FN Thomson Reuters Web of Science™
VR 1.0
PT J
AU Vintzileos, AM
Ananth, CV
AF Vintzileos, Anthony M.
Ananth, Cande V.
TI Does augmentation or induction of labor with oxytocin increase the risk
for autism? Reply
SO AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
LA English
DT Letter
C1 [Vintzileos, Anthony M.] Winthrop Univ Hosp, Dept Obstet & Gynecol, Mineola, NY 11501 USA.
[Ananth, Cande V.] Columbia Univ Coll Phys & Surg, Dept Obstet & Gynecol, Dept Epidemiol, Mailman Sch Publ Hlth, New York, NY 10032 USA.
RP Vintzileos, AM (reprint author), Winthrop Univ Hosp, Dept Obstet & Gynecol, 259 First St, Mineola, NY 11501 USA.
EM avintzileos@winthrop.org
CR Gregory SG, 2013, JAMA PEDIATR, V167, P959, DOI 10.1001/jamapediatrics.2013.2904
Lash TL, 2012, INT J BIOSTAT, V8, DOI 10.2202/1557-4679.1345
Vintzileos A, 2014, JAMA PEDIATR, V168, P190, DOI 10.1001/jamapediatrics.2013.4795
Vintzileos AM, 2013, AM J OBSTET GYNECOL, V209, P502, DOI 10.1016/j.ajog.2013.09.003
Vintzileos AM, 2014, AM J OBSTET GYNECOL, V210, P493, DOI 10.1016/j.ajog.2013.12.039
NR 5
TC 0
Z9 0
PU MOSBY-ELSEVIER
PI NEW YORK
PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0002-9378
EI 1097-6868
J9 AM J OBSTET GYNECOL
JI Am. J. Obstet. Gynecol.
PD MAY
PY 2014
VL 210
IS 5
BP 496
EP 496
DI 10.1016/j.ajog.2014.02.016
PG 1
WC Obstetrics & Gynecology
SC Obstetrics & Gynecology
GA AG6EF
UT WOS:000335510700044
PM 24534185
ER
PT J
AU Milosavljevic, N
Monet, M
Lena, I
Brau, F
Lacas-Gervais, S
Feliciangeli, S
Counillon, L
Poet, M
AF Milosavljevic, Nina
Monet, Michael
Lena, Isabelle
Brau, Frederic
Lacas-Gervais, Sandra
Feliciangeli, Sylvain
Counillon, Laurent
Poet, Mallorie
TI The Intracellular Na+/H+ Exchanger NHE7 Effects a Na+-Coupled, but Not
K+-Coupled Proton-Loading Mechanism in Endocytosis
SO CELL REPORTS
LA English
DT Article
ID LYSOSOMAL STORAGE DISEASE; TRANS-GOLGI NETWORK; MENTAL-RETARDATION;
H+-ATPASE; PH; ENDOSOMES; CHLORIDE; SLC9A6; MUTATION; PATHWAY
AB Vesicular H+-ATPases and ClC-chloride transporters are described to acidify intracellular compartments, which also express the highly conserved Na+/H+ exchangers NHE6, NHE7, and NHE9. Mutations of these exchangers cause autism-spectrum disorders and neurodegeneration. NHE6, NHE7, and NHE9 are hypothesized to exchange cytosolic K+ for H+ and alkalinize vesicles, but this notion has remained untested in K+ because their intracellular localization prevents functional measurements. Using protonkilling techniques, we selected a cell line that expresses wild-type NHE7 at the plasma membrane, enabling measurement of the exchanger's transport parameters. We found that NHE7 transports Li+ and Na+, but not K+, is nonreversible in physiological conditions and is constitutively activated by cytosolic H+. Therefore, NHE7 acts as a proton-loading transporter rather than a proton leak. NHE7 mediates an acidification of intracellular vesicles that is additive to that of V-ATPases and that accelerates endocytosis. This study reveals an unexpected function for vesicular Na+/H+ exchangers and provides clues for understanding NHE-linked neurological disorders.
C1 [Milosavljevic, Nina; Monet, Michael; Lena, Isabelle; Counillon, Laurent; Poet, Mallorie] Univ Nice Sophia Antipolis, LP2M, CNRS UMR 7370, Fac Med, F-06107 Nice, France.
[Brau, Frederic; Feliciangeli, Sylvain] Univ Nice Sophia Antipolis, IPMC, CNRS UMR 7275, F-06560 Valbonne, France.
[Lacas-Gervais, Sandra] Univ Nice Sophia Antipolis, CCMA, Fac Sci, F-06108 Nice, France.
RP Counillon, L (reprint author), Univ Nice Sophia Antipolis, LP2M, CNRS UMR 7370, Fac Med, 28 Ave Valombrose, F-06107 Nice, France.
EM laurent.counillon@unice.fr
FU University of Nice-Sophia Antipolis; ANR (JCJC SVSE1 NHEint); Basileus
EMECW
FX This work was supported by the University of Nice-Sophia Antipolis, the
ANR (JCJC SVSE1 NHEint), and the CNRS. N.M. was funded by the Basileus
EMECW project. We thank Drs. Jacques Barhanin (LP2M CNRS-UMR 7370),
Bruno Antonny (IPMC, CNRS-UMR 7275), and Mireille Cormont (C3M INSERM-U
1065) for fruitful discussions, Dr. Ellen Van Obberghen-Schilling (IBV
CNRS-UMR 7277) for critical reading of the manuscript, and Fabien Labbal
(LP2M CNRS-UMR 7370) for assistance in cell culture.
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NR 36
TC 1
Z9 1
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 2211-1247
J9 CELL REP
JI Cell Reports
PD MAY
PY 2014
VL 7
IS 3
BP 689
EP 696
DI 10.1016/j.celrep.2014.03.054
PG 8
WC Cell Biology
SC Cell Biology
GA AG6WZ
UT WOS:000335560900011
PM 24767989
ER
PT J
AU Jiang-Xie, LF
Liao, HM
Chen, CH
Chen, YT
Ho, SY
Lu, DH
Lee, LJ
Liou, HH
Fu, WM
Gau, SSF
AF Jiang-Xie, Li-Feng
Liao, Hsiao-Mei
Chen, Chia-Hsiang
Chen, Yuh-Tarng
Ho, Shih-Yin
Lu, Dai-Hua
Lee, Li-Jen
Liou, Horng-Huei
Fu, Wen-Mei
Gau, Susan Shur-Fen
TI Autism-associated gene Dlgap2 mutant mice demonstrate exacerbated
aggressive behaviors and orbitofrontal cortex deficits
SO MOLECULAR AUTISM
LA English
DT Article
DE Dlgap2; aggressive behavior; orbitofrontal cortex; autism; synapse;
mouse model
ID OBSESSIVE-COMPULSIVE DISORDER; SPECTRUM DISORDERS; SOCIAL-BEHAVIOR;
PSYCHIATRIC-DISORDERS; STRUCTURAL VARIATION; SYNAPTIC FUNCTION; INBRED
STRAINS; MOUSE; MUTATIONS; DYSFUNCTION
AB Background: As elegant structures designed for neural communication, synapses are the building bricks of our mental functions. Recently, many studies have pointed out that synaptic protein-associated mutations may lead to dysfunctions of social cognition. Dlgap2, which encodes one of the main components of scaffold proteins in postsynaptic density (PSD), has been addressed as a candidate gene in autism spectrum disorders. To elucidate the disturbance of synaptic balance arising from Dlgap2 loss-of-function in vivo, we thus generated Dlgap2(-/-) mice to investigate their phenotypes of synaptic function and social behaviors.
Methods: The creation of Dlgap2(-/-) mice was facilitated by the recombineering-based method, Cre-loxP system and serial backcross. Reversal learning in a water T-maze was used to determine repetitive behaviors. The three-chamber approach task, resident-intruder test and tube task were performed to characterize the social behaviors of mutant mice. Cortical synaptosomal fraction, Golgi-Cox staining, whole-cell patch electrophysiology and transmission electron microscopy were all applied to investigate the function and structure of synapses in the orbitofrontal cortex (OFC) of Dlgap2(-/-) mice.
Results: Dlgap2(-/-) mice displayed exacerbated aggressive behaviors in the resident-intruder task, and elevated social dominance in the tube test. In addition, Dlgap2(-/-) mice exhibited a clear reduction of receptors and scaffold proteins in cortical synapses. Dlgap2(-/-) mice also demonstrated lower spine density, decreased peak amplitude of miniature excitatory postsynaptic current and ultra-structural deficits of PSD in the OFC.
Conclusions: Our findings clearly demonstrate that Dlgap2 plays a vital role in social behaviors and proper synaptic functions of the OFC. Moreover, these results may provide valuable insights into the neuropathology of autism.
C1 [Jiang-Xie, Li-Feng; Liao, Hsiao-Mei; Chen, Chia-Hsiang; Gau, Susan Shur-Fen] Natl Taiwan Univ Hosp, Dept Psychiat, Taipei 10002, Taiwan.
[Jiang-Xie, Li-Feng; Chen, Yuh-Tarng; Lee, Li-Jen; Liou, Horng-Huei; Fu, Wen-Mei; Gau, Susan Shur-Fen] Natl Taiwan Univ, Grad Inst Brain & Mind Sci, Taipei, Taiwan.
[Chen, Chia-Hsiang] Chang Gung Mem Hosp Linkou, Dept Psychiat, Taoyuan, Taiwan.
[Chen, Chia-Hsiang] Chang Gung Univ, Dept & Grad Inst Biomed Sci, Taoyuan, Taiwan.
[Ho, Shih-Yin; Lu, Dai-Hua; Liou, Horng-Huei; Fu, Wen-Mei] Natl Taiwan Univ, Coll Med, Sch Med, Dept Pharmacol, Taipei 10051, Taiwan.
[Lee, Li-Jen] Natl Taiwan Univ, Coll Med, Dept Anat & Cell Biol, Taipei, Taiwan.
RP Fu, WM (reprint author), Natl Taiwan Univ Hosp, Dept Psychiat, 7 Chung Shan South Rd, Taipei 10002, Taiwan.
EM wenmei@ntu.edu.tw; gaushufe@ntu.edu.tw
FU National Science Council, Taiwan [NSC 97-3112-B-002-009, NSC
98-3112-B-002-004, NSC 99-3112-B-002-036, NSC 101-2314-B-002-136-MY3];
National Taiwan University Hospital [NTUH 100-S1525]; National Taiwan
University (AIM for Top University Excellent Research Project)
[10R81918-03101R892103, 102R892103]
FX This work was supported by National Science Council, Taiwan (NSC
97-3112-B-002-009, NSC 98-3112-B-002-004, NSC 99-3112-B-002-036 and NSC
101-2314-B-002-136-MY3 to SSG), National Taiwan University Hospital
(NTUH 100-S1525 to SSG) and National Taiwan University (AIM for Top
University Excellent Research Project: 10R81918-03101R892103, 102R892103
to SSG). We thank the technical services provided by the Transgenic
Mouse Model Core Facility of the National Core Facility Program for
Biotechnology, the National Science Council and the Gene Knockout Mouse
Core Laboratory of the National Taiwan University Center of Genomic
Medicine. We would like to express our thanks to Su-Mei Lai for
assisting in creating ultrathin sections for the electron microscopy
experiments.
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NR 54
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD MAY 1
PY 2014
VL 5
AR 32
DI 10.1186/2040-2392-5-32
PG 13
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AG7OH
UT WOS:000335606900001
PM 25071926
ER
PT J
AU Vogel-Ciernia, A
Wood, MA
AF Vogel-Ciernia, Annie
Wood, Marcelo A.
TI Neuron-specific chromatin remodeling: A missing link in epigenetic
mechanisms underlying synaptic plasticity, memory, and intellectual
disability disorders
SO NEUROPHARMACOLOGY
LA English
DT Review
DE Chromatin remodeling; Nucleosome remodeling; Epigenetics; Long-term
memory; Long-term potentiation; Intellectual disability disorder; Autism
spectrum disorder
ID DE-NOVO MUTATIONS; MAMMALIAN SWI/SNF COMPLEXES; LONG-TERM POTENTIATION;
CORTICAL PYRAMIDAL NEURONS; AUTISM SPECTRUM DISORDERS; DENDRITIC SPINE
DENSITY; COFFIN-SIRIS SYNDROME; EMBRYONIC STEM-CELLS; SWI-SNF COMPLEX;
TRANSCRIPTION FACTORS
AB Long-term memory formation requires the coordinated regulation of gene expression. Until recently nucleosome remodeling, one of the major epigenetic mechanisms for controlling gene expression, had been largely unexplored in the field of neuroscience. Nucleosome remodeling is carried out by chromatin remodeling complexes (CRCs) that interact with DNA and histones to physically alter chromatin structure and ultimately regulate gene expression. Human exome sequencing and gene wide association studies have linked mutations in CRC subunits to intellectual disability disorders, autism spectrum disorder and schizophrenia. However, how mutations in CRC subunits were related to human cognitive disorders was unknown. There appears to be both developmental and adult specific roles for the neuron specific CRC nBAF (neuronal Brg1/hBrm Associated Factor). nBAF regulates gene expression required for dendritic arborization during development, and in the adult, contributes to long-term potentiation, a form of synaptic plasticity, and long-term memory. We propose that the nBAF complex is a novel epigenetic mechanism for regulating transcription required for long-lasting forms of synaptic plasticity and memory processes and that impaired nBAF function may result in human cognitive disorders. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Vogel-Ciernia, Annie; Wood, Marcelo A.] Univ Calif Irvine, Dept Neurobiol & Behav, Irvine, CA 92697 USA.
[Vogel-Ciernia, Annie; Wood, Marcelo A.] Univ Calif Irvine, Ctr Neurobiol Learning & Memory, Irvine, CA 92717 USA.
RP Wood, MA (reprint author), Univ Calif Irvine, Dept Neurobiol & Behav, Ctr Neurobiol Learning & Memory, 301 Qureshey Res Labs, Irvine, CA 92697 USA.
EM mwood@uci.edu
FU NIMH [F31-MH098565]; NIDA [MH081004, MH101491, DA025922, DA 036984]
FX This work was funded by NIMH and NIDA grants (MH081004, MH101491,
DA025922, DA 036984) to M.A. Wood and NIMH (F31-MH098565) to A.V.C.
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NR 100
TC 8
Z9 8
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3908
EI 1873-7064
J9 NEUROPHARMACOLOGY
JI Neuropharmacology
PD MAY
PY 2014
VL 80
SI SI
BP 18
EP 27
DI 10.1016/j.neuropharm.2013.10.002
PG 10
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA AG7RG
UT WOS:000335614900003
PM 24140580
ER
PT J
AU Weng, PL
Maeda, Y
Bouck, EC
AF Weng, Pei-Lin
Maeda, Yukiko
Bouck, Emily C.
TI Effectiveness of Cognitive Skills-Based Computer-Assisted Instruction
for Students With Disabilities A Synthesis
SO REMEDIAL AND SPECIAL EDUCATION
LA English
DT Article
DE technology; meta-analysis; learning outcomes; computer-assisted
instruction; research methodology
ID AUTISM SPECTRUM DISORDERS; SINGLE-SUBJECT RESEARCH; SPECIAL-EDUCATION;
INTELLECTUAL DISABILITY; LEARNING-DISABILITIES; TEACHING MACHINES;
CHILDREN; METAANALYSIS; TECHNOLOGY; INTERVENTION
AB Computer-assisted instruction (CAI) for students with disabilities can be categorized into the following categories: visual, auditory, mobile, and cognitive skills-based CAI. Cognitive-skills based CAI differs from other types of CAI largely in terms of an emphasis on instructional design features. We conducted both systematic review of literatures and meta-analysis of studies using cognitive skills-based CAI to determine the effectiveness of this technology on the learning outcomes of students with disabilities. This study also scrutinized critical instructional design features of CAI used in the synthesized studies. Results indicated (a) a moderate weighted average effect size of 0.35 for group-comparison design studies; (b) relatively large effect sizes, but inconsistent among different indices, in single-subject experimental design studies; and (c) insufficient information available on design features of the CAI used in the primary studies. Limitations, implications, and future research directions were discussed.
C1 [Weng, Pei-Lin; Maeda, Yukiko; Bouck, Emily C.] Purdue Univ, W Lafayette, IN 47907 USA.
RP Maeda, Y (reprint author), Purdue Univ, Dept Educ Studies, 100 N Univ St, W Lafayette, IN 47907 USA.
EM ymaeda@purdue.edu
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NR 100
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0741-9325
EI 1538-4756
J9 REM SPEC EDUC
JI Remedial Spec. Educ.
PD MAY
PY 2014
VL 35
IS 3
BP 167
EP 180
DI 10.1177/0741932513514858
PG 14
WC Education, Special
SC Education & Educational Research
GA AG5JS
UT WOS:000335455900004
ER
PT J
AU McKone, E
Jeffery, L
Boeing, A
Clifford, CWG
Rhodes, G
AF McKone, Elinor
Jeffery, Linda
Boeing, Alexandra
Clifford, Colin W. G.
Rhodes, Gillian
TI Face identity aftereffects increase monotonically with adaptor extremity
over, but not beyond, the range of natural faces
SO VISION RESEARCH
LA English
DT Article
DE Face perception; Face identification; Face adaptation; Face aftereffects
ID VISUAL REPRESENTATION; FACIAL IDENTITY; ADAPTATION; PERCEPTION;
CHILDREN; SIZE; DISTINCTIVENESS; RECOGNITION; MECHANISMS; AUTISM
AB Face identity aftereffects have been used to test theories of the neural coding underlying expert face recognition. Previous studies reported larger aftereffects for adaptors that are morphed further from the average face than for adaptors closer to the average, which appeared to support opponent coding along face-identity dimensions. However, only two levels were tested and it is not clear where they were located relative to the range of naturally occurring faces. This range is of interest given the functional need of the visual system both to produce good discrimination of real everyday faces and to process novel kinds of faces that we may encounter. Here, Experiment 1 establishes the boundary of faces judged as being able to occur in everyday life. Experiment 2 then shows that aftereffects increase with adaptor extremity up to this natural-range boundary, drop significantly immediately outside the boundary, and then remain stable with no drop towards zero even for highly distorted adaptors far beyond the boundary. Computational modelling shows that this unexpected pattern cannot be explained either by a simple opponent or by a classic multichannel model. However, its qualitative features can be captured either by a combination of opponent and multichannel coding (raising the possibility that not all identity-related face dimensions are opponent coded), or by a 3-pool model containing two S-shaped-response channels and a central bell-shaped channel around the average face (raising the possibility of unexpected similarities with coding of eye and head direction). (C) 2014 Elsevier Ltd. All rights reserved.
C1 [McKone, Elinor] Australian Natl Univ, Res Sch Psychol, Canberra, ACT 0200, Australia.
[Jeffery, Linda; Boeing, Alexandra; Rhodes, Gillian] Univ Western Australia, ARC Ctr Excellence Cognit & Its Disorders, Sch Psychol, Nedlands, WA 6009, Australia.
[Clifford, Colin W. G.] Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
RP McKone, E (reprint author), Australian Natl Univ, Sch Psychol, GPO Box 4, Canberra, ACT 0200, Australia.
EM elinor.mckone@anu.edu.au
FU Australian Research Council Centre of Excellence in Cognition and its
Disorders [CE110001021]; ARC Professorial Fellowship [DP0877379]; ARC
Queen Elizabeth II Fellowship [DP0984558]; Australian Research Council
Future Fellowship [FT110100150]
FX This research was supported by the Australian Research Council Centre of
Excellence in Cognition and its Disorders (CE110001021), an ARC
Professorial Fellowship to Rhodes (DP0877379), an ARC Queen Elizabeth II
Fellowship to McKone (DP0984558), and Australian Research Council Future
Fellowship to Clifford (FT110100150). We thank Eleni Avard and Stephen
Pond for assistance with testing, Stephen Pond for preparing the figures
and Mayu Nishimura and Daphne Maurer for co-creating the "Robbers Task".
Ethical approval was granted by the Human Research Ethics Committee of
the University of Western Australia.
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NR 45
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0042-6989
EI 1878-5646
J9 VISION RES
JI Vision Res.
PD MAY
PY 2014
VL 98
BP 1
EP 13
DI 10.1016/j.visres.2014.01.007
PG 13
WC Neurosciences; Ophthalmology
SC Neurosciences & Neurology; Ophthalmology
GA AG7UJ
UT WOS:000335624000001
PM 24582798
ER
PT J
AU Zuckerman, KE
Sinche, B
Mejia, A
Cobian, M
Becker, T
Nicolaidis, C
AF Zuckerman, Katharine E.
Sinche, Brianna
Mejia, Angie
Cobian, Martiza
Becker, Thomas
Nicolaidis, Christina
TI Latino Parents' Perspectives on Barriers to Autism Diagnosis
SO ACADEMIC PEDIATRICS
LA English
DT Article
DE autism spectrum disorder; delayed diagnosis; health services
accessibility; Hispanic Americans; qualitative research
ID SPECTRUM DISORDERS; ETHNIC DISPARITIES; EARLY INTERVENTION; HEALTH-CARE;
SERVICE USE; CHILDREN; ACCESS; AGE; IDENTIFICATION; INFORMATION
AB OBJECTIVE: Latino children are diagnosed with autism spectrum disorders (ASDs) at older ages and at the point of more severe symptoms. We sought to qualitatively describe community, family, and health care system barriers to ASD diagnosis in Latino children.
METHODS: Five focus groups and 4 qualitative interviews were conducted with 33 parents of Latino children previously diagnosed with an ASD. Participants described Latino community perceptions of autism and barriers they experienced during the diagnostic process. Sessions were audiorecorded and transcribed. Transcripts were coded by 2 researchers, and data were analyzed using thematic, analysis.
RESULTS: Parents reported low levels of ASD information and high levels of mental health and disability stigma in the Latino community. Parents had poor access to care as a result of poverty, limited English proficiency, and lack of empowerment to take advantage of services. Providers sometimes dismissed parents' concerns. The ASD diagnostic process itself was slow, inconvenient, confusing, and uncomfortable for the child. These factors led many parents to normalize their child's early behaviors, deny that a problem existed, and lose trust in the medical system.
CONCLUSIONS: Additional educational outreach to Latino families, destigmatization of ASD, streamlining the ASD diagnostic process, and providing additional support to Latino parents of at-risk children may decrease delays in ASD diagnosis among Latino, children.
C1 [Zuckerman, Katharine E.; Sinche, Brianna; Mejia, Angie; Cobian, Martiza] Oregon Hlth & Sci Univ, Child & Adolescent Hlth Measurement Initiat, Portland, OR 97239 USA.
[Zuckerman, Katharine E.] Oregon Hlth & Sci Univ, Div Gen Pediat, Portland, OR 97239 USA.
[Mejia, Angie] Syracuse Univ, Dept Sociol, Syracuse, NY USA.
[Cobian, Martiza] Univ Pacific, Dept Psychol, Hillsboro, OR USA.
[Becker, Thomas; Nicolaidis, Christina] Oregon Hlth & Sci Univ, Dept Publ Hlth & Prevent Med, Portland, OR 97239 USA.
[Nicolaidis, Christina] Oregon Hlth & Sci Univ, Dept Internal Med & Geriatr, Portland, OR 97239 USA.
[Nicolaidis, Christina] Portland State Univ, Sch Social Work, Portland, OR 97207 USA.
RP Zuckerman, KE (reprint author), Oregon Hlth & Sci Univ, 707 SW Gaines Rd,Mail Code,CDRC P, Portland, OR 97239 USA.
EM zuckerma@ohsu.edu
FU National Institute of Mental Health [1K23MH095828]; Academic Pediatric
Association/Commonwealth Fund Young Investigator Award
FX The authors would like to acknowledge Drs Ellen Lipstein and Somnath
Saha for their guidance regarding qualitative methods; Dr Christina
Bethell for material support; Teresa Gomez and the OHSU Autism Clinic
staff for help in recruitment; and Susie Larios and Erendira Valdivia
for their helpful perspectives and assistance with data analysis. Funded
by grant 1K23MH095828 from the National Institute of Mental Health
(PI=Zuckerman); partially funded by an Academic Pediatric
Association/Commonwealth Fund Young Investigator Award (PI=Zuckerman).
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Zuckerman KE, CLIN PEDIAT IN PRESS
NR 36
TC 1
Z9 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1876-2859
EI 1876-2867
J9 ACAD PEDIATR
JI Acad. Pediatr.
PD MAY-JUN
PY 2014
VL 14
IS 3
BP 301
EP 308
DI 10.1016/j.acap.2013.12.004
PG 8
WC Pediatrics
SC Pediatrics
GA AG4CX
UT WOS:000335368000013
PM 24767783
ER
PT J
AU Thakkar, KN
Peterman, JS
Park, S
AF Thakkar, Katharine N.
Peterman, Joel S.
Park, Sohee
TI Altered Brain Activation During Action Imitation and Observation in
Schizophrenia: A Translational Approach to Investigating Social
Dysfunction in Schizophrenia
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Article
ID SCALE; PERCEPTION; MECHANISMS; DISORDERS; COGNITION; LANGUAGE; BEHAVIOR;
AUTISM; MONKEY; SELF
AB Objective: Social impairments are a key feature of schizophrenia, but their underlying mechanisms are poorly understood. Imitation, a process through which we understand the minds of others, involves the so-called mirror neuron system, a network comprising the inferior parietal lobe, inferior frontal gyrus, and posterior superior temporal sulcus. The authors examined mirror neuron system function in schizophrenia.
Method: Sixteen medicated schizophrenia patients and 16 healthy comparison subjects performed an action imitation/observation task during functional MRI. Participants saw a video of a moving,hand or spatial cue and were instructed to either execute finger movements associated with the stimulus or simply observe. Activation in the mirror neuron system was measured during imitative versus nonimitative actions and observation of a moving hand versus a moving spatial cue. These contrasts were compared across groubs.
Results: Activation in the mirror neuron system was less specific for imitation in schizophrenia. Relative to healthy subjects, patients had reduced activity in the posterior superior temporal sulcus during imitation and greater activity in the posterior superior temporal sulcus and inferior parietal lobe during nonimitative action. Patients also showed reduced activity in these regions during action observation. Mirror neuron system activation was related to symptom severity and social functioning in patients and to schizotypal syndrome in comparison subjects.
Conclusions: Given the role of the inferior parietal lobe and posterior superior temporal sulcus in imitation and social cognition, impaired imitative ability in schizophrenia may stem from faulty perception of biological. motion and transformations from perception to action. These findings extend our understanding of social dysfunction in schizophrenia.
C1 [Thakkar, Katharine N.; Peterman, Joel S.; Park, Sohee] Vanderbilt Univ, Dept Psychol, Nashville, TN 37240 USA.
RP Park, S (reprint author), Vanderbilt Univ, Dept Psychol, Nashville, TN 37240 USA.
EM sohee.park@vanderbilt.edu
FU NIMH [R01-MH073028, F31-MH085405-01]; NARSAD; Netherlands Organization
for Scientific Research; National Center for Research Resources [UL1
RR024975-01]
FX Supported by NIMH grants R01-MH073028 to Dr. Park and F31-MH085405-01 to
Dr. Thakkar; a NARSAD Distinguished Investigator Award to Dr. Park; a
Rubicon grant from the Netherlands Organization for Scientific Research
to Dr. Thakkar; and grant UL1 RR024975-01 from the National Center for
Research Resources.
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NR 38
TC 8
Z9 8
PU AMER PSYCHIATRIC PUBLISHING, INC
PI ARLINGTON
PA 1000 WILSON BOULEVARD, STE 1825, ARLINGTON, VA 22209-3901 USA
SN 0002-953X
EI 1535-7228
J9 AM J PSYCHIAT
JI Am. J. Psychiat.
PD MAY
PY 2014
VL 171
IS 5
BP 539
EP 548
DI 10.1176/appi.ajp.2013.13040498
PG 10
WC Psychiatry
SC Psychiatry
GA AG0SI
UT WOS:000335125500012
PM 24626638
ER
PT J
AU Karvat, G
Segal, H
Barzilay, R
Ganz, J
Barak, N
Edry, L
Offen, D
Kimchi, T
AF Karvat, Golan
Segal, Hadar
Barzilay, Ran
Ganz, Javier
Barak, Noy
Edry, Liat
Offen, Daniel
Kimchi, Tali
TI Mesenchymal Stem Cell Transplantation Promotes Neurogenesis and
Ameliorates Autism Related Behaviors in BTBR Mice
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE Autism; BTBR; Mesenchymal Stem Cells; BDNF; Neurogenesis
C1 [Karvat, Golan; Barak, Noy; Edry, Liat; Offen, Daniel; Kimchi, Tali] Weizmann Inst Sci, Dept Neurobiol, IL-76100 Rehovot, Israel.
[Segal, Hadar; Barzilay, Ran; Ganz, Javier] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 44
BP 15S
EP 15S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101800046
ER
PT J
AU Sakurai, T
Ueda, S
AF Sakurai, Takeshi
Ueda, Shuhei
TI Genes Involved in Williams-Beuren Syndrome and Autism Spectrum Disorders
to Study Social Behavior Development
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE Williams-Beuren syndrome; Autism spectrum disorders; social behavior;
mouse model
C1 [Sakurai, Takeshi; Ueda, Shuhei] Kyoto Univ, Grad Sch Med, Med Innovat Ctr, Kyoto, Japan.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 123
BP 38S
EP 38S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101800117
ER
PT J
AU Shevelkin, AV
Abazyan, BN
Button, B
Rudow, GL
Ross, CA
Troncoso, JC
Pletnikov, MV
AF Shevelkin, Alexey V.
Abazyan, Bagrat N.
Button, Berry
Rudow, Gay L.
Ross, Christopher A.
Troncoso, Juan C.
Pletnikov, Mikhail V.
TI Behavioral Phenotyping and Stereological Assessment of Transgenic Mouse
Model of Inducible Expression of Mutant DISC1 in Purkinje Cells
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE autism; neurodevelopment; cerebellum; Purkinje cells; DISC1
C1 [Shevelkin, Alexey V.; Abazyan, Bagrat N.; Button, Berry; Ross, Christopher A.; Pletnikov, Mikhail V.] Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA.
[Shevelkin, Alexey V.] PK Anokhin Inst Norm Physiol, Moscow, Russia.
[Rudow, Gay L.; Troncoso, Juan C.] Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD 21205 USA.
[Ross, Christopher A.; Pletnikov, Mikhail V.] Johns Hopkins Univ, Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD 21205 USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 126
BP 39S
EP 39S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101800120
ER
PT J
AU Fineberg, NA
AF Fineberg, Naomi A.
TI Autistic Traits in Obsessive-compulsive Disorder: A UK Cross-sectional
Survey
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE Obsessive-compulsive; autistic; ASD; OCD; Autism
C1 [Fineberg, Naomi A.] Univ Hertfordshire, Queen Elizabeth II Hosp, Welwyn Garden City, Herts, England.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 209
BP 65S
EP 65S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101800203
ER
PT J
AU Solomon, M
Lesh, TA
Niendam, TA
Matter, JC
Beck, JS
Carter, CS
Ragland, JD
AF Solomon, Marjorie
Lesh, Tyler A.
Niendam, Tara A.
Matter, John C.
Beck, Jonathan S.
Carter, Cameron S.
Ragland, J. Daniel
TI The Neural Substrates of the Generalization of Learning in Autism
Spectrum Disorders (ASD)
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE autism; learning; fMRI; inference; aolescence
C1 [Solomon, Marjorie; Lesh, Tyler A.; Niendam, Tara A.; Matter, John C.; Beck, Jonathan S.; Carter, Cameron S.; Ragland, J. Daniel] Univ Calif Davis, Sacramento, CA 95817 USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 208
BP 65S
EP 65S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101800202
ER
PT J
AU Gordon, I
Vander Wyk, BC
Lucas, MV
Cordeaux, C
Bennett, RH
Eilbott, JA
Zagoory-Sharon, O
Leckman, JF
Feldman, R
Pelphrey, KA
AF Gordon, Ilanit
Vander Wyk, Brent C.
Lucas, Molly V.
Cordeaux, Cara
Bennett, Randi H.
Eilbott, Jeffrey A.
Zagoory-Sharon, Orna
Leckman, James F.
Feldman, Ruth
Pelphrey, Kevin A.
TI The Neural Attunement Effects of Oxytocin in Children with Autism
Disorders
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
C1 [Gordon, Ilanit] Bar Ilan Univ, Ramat Gan, Israel.
[Gordon, Ilanit; Vander Wyk, Brent C.; Lucas, Molly V.; Cordeaux, Cara; Bennett, Randi H.; Eilbott, Jeffrey A.; Leckman, James F.; Pelphrey, Kevin A.] Yale Univ, Sch Med, New Haven, CT USA.
[Zagoory-Sharon, Orna; Feldman, Ruth] Bar Ilan Univ, Gonda Brain Res Ctr, Ramat Gan, Israel.
[Feldman, Ruth] Bar Ilan Univ, Dept Psychol, Ramat Gan, Israel.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 269
BP 84S
EP 84S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101800263
ER
PT J
AU Alaerts, K
Geerlings, F
Herremans, L
Swinnen, SP
Wenderoth, N
AF Alaerts, Kaat
Geerlings, Franca
Herremans, Lynn
Swinnen, Stephan P.
Wenderoth, Nicole
TI Functional Network Organization of the Action Observation Network in
Autism Spectrum Disorders: A Graph Theory Approach.
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE Autism spectrum disorders; fMRI; Emotion recognition; Action observation
network; Graph theory
C1 [Alaerts, Kaat; Geerlings, Franca; Herremans, Lynn; Swinnen, Stephan P.] Katholieke Univ Leuven, Movement Control & Neuroplast Res Grp, Leuven, Belgium.
[Wenderoth, Nicole] ETH, Neural Control Movement Lab, Zurich, Switzerland.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 271
BP 85S
EP 85S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101800265
ER
PT J
AU Nickl-Jockschat, T
Rottschy, C
Thommes, J
Schneider, F
Laird, AR
Fox, PT
Eickhoff, SB
AF Nickl-Jockschat, Thomas
Rottschy, Claudia
Thommes, Johanna
Schneider, Frank
Laird, Angela R.
Fox, Peter T.
Eickhoff, Simon B.
TI Evidence for Structure-function Interaction in Dysfunctional Face
Processing in Autism Spectrum Disorder (ASD)
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE autism; face processing; structure-function relationship; V5;
meta-analysis
C1 [Nickl-Jockschat, Thomas; Rottschy, Claudia; Thommes, Johanna; Schneider, Frank] Rhein Westfal TH Aachen, Aachen, Germany.
[Laird, Angela R.] Florida Int Univ, Dept Phys, Miami, FL 33199 USA.
[Fox, Peter T.] Univ Texas Hlth Sci Ctr San Antonio, Res Imaging Inst, San Antonio, TX 78229 USA.
[Eickhoff, Simon B.] Univ Dusseldorf, Inst Clin Neurosci & Med Psychol, Dusseldorf, Germany.
RI Eickhoff, Simon/K-2061-2013; Fox, Peter/B-4725-2010
OI Eickhoff, Simon/0000-0001-6363-2759; Fox, Peter/0000-0002-0465-2028
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 274
BP 86S
EP 86S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101800268
ER
PT J
AU Koolschijn, PCM
Geurts, HM
AF Koolschijn, P. Cedric M.
Geurts, Hilde M.
TI The Neural Correlates of Perceptual Closure in Adults and Elderly with
Autism Spectrum Disorders
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE Autism spectrum disorder; perceptual closure; face-recognition; fMRI;
adults and elderly
C1 [Koolschijn, P. Cedric M.; Geurts, Hilde M.] Univ Amsterdam, Dutch Autism & ADHD Res Ctr, Amsterdam, Netherlands.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 319
BP 101S
EP 101S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101800313
ER
PT J
AU Hiroi, N
Hiramoto, T
Boku, S
Takahashi, T
Izumi, T
Kang, G
Hishimoto, A
AF Hiroi, Noboru
Hiramoto, Takeshi
Boku, Shuken
Takahashi, Tomohisa
Izumi, Takeshi
Kang, Gina
Hishimoto, Akitoyo
TI Identification of Chromosomal Segments and Specific Individual Genes
Critical for Schizophrenia-related Phenotypes in Mouse Models of 22q11.2
Copy Number Variants
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE 22q11.2; Copy number variant; autism; schizophrenia; mouse model
C1 [Hiroi, Noboru; Hiramoto, Takeshi; Boku, Shuken; Takahashi, Tomohisa; Izumi, Takeshi; Kang, Gina; Hishimoto, Akitoyo] Albert Einstein Coll Med, Bronx, NY 10467 USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 512
BP 139S
EP 139S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101801013
ER
PT J
AU Kana, R
AF Kana, Rajesh
TI Multimodal Neuroimaging Markers of Autism Spectrum Disorders
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE Autsim
C1 [Kana, Rajesh] Univ Alabama Birmingham, Birmingham, AL USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 515
BP 139S
EP 140S
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101801016
ER
PT J
AU Vaidya, C
AF Vaidya, Chandan
TI Atypical Task and State-related Modulation of Functional Connectivity in
Autism Spectrum Disorder
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
C1 [Vaidya, Chandan] Georgetown Univ, Washington, DC 20057 USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 513
BP 139S
EP 139S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101801014
ER
PT J
AU Uddin, LQ
AF Uddin, Lucina Q.
TI Salience-network Based Classification of Autism
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE autism; connectivity; insula; brain network; resting state fMRI
C1 [Uddin, Lucina Q.] Stanford Univ, Palo Alto, CA 94304 USA.
[Uddin, Lucina Q.] Univ Miami, Coral Gables, FL 33124 USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 516
BP 140S
EP 140S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101801017
ER
PT J
AU Di Martino, A
Somandepalli, K
Craddock, CR
Milham, MP
AF Di Martino, Adriana
Somandepalli, Krishna
Craddock, Cameron R.
Milham, Michael P.
TI An Emerging Paradigm for Examination of Autism in Early Brain
Development
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE Autism; resting state; sleep; clustering; thalamus
C1 [Di Martino, Adriana; Somandepalli, Krishna] NYU, Langone Med Ctr, CSC, New York, NY USA.
[Craddock, Cameron R.; Milham, Michael P.] Child Mind Inst, New York, NY USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 530
BP 144S
EP 145S
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101801031
ER
PT J
AU McCracken, JT
AF McCracken, James T.
TI Re-Thinking Clinical Trials in Autism Spectrum Disorders: The NIMH
FAST-ASD Network
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE Autism; Clinical trials; Biomarkers; GABA
C1 [McCracken, James T.] Univ Calif Los Angeles, Div Child & Adolescent Psychiat, Semel Inst, Los Angeles, CA USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 536
BP 146S
EP 146S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101801037
ER
PT J
AU Mansour, H
El-Tabei, D
Shahin, O
Hoffner, L
Sathanoori, M
Surti, U
Nimgaonkar, V
AF Mansour, Hader
El-Tabei, Dina
Shahin, Ola
Hoffner, Lori
Sathanoori, Malini
Surti, Urvachi
Nimgaonkar, Vishwajit
TI First Report on a Multiplex, Consanguineous, Family with Autism and
Chromosome 15 Duplication
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE Autism; Genetic; Consanguinity; Chromosome
C1 [Mansour, Hader; Nimgaonkar, Vishwajit] Univ Pittsburgh, Sch Med, Western Psychiat Inst & Clin, Pittsburgh, PA USA.
[El-Tabei, Dina; Shahin, Ola] Cairo Univ, Cairo, Egypt.
[Hoffner, Lori; Sathanoori, Malini; Surti, Urvachi] Univ Pittsburgh, Magee Womens Hosp, Sch Med, Pittsburgh Cytogenet Lab, Pittsburgh, PA 15213 USA.
[Nimgaonkar, Vishwajit] Univ Pittsburgh, Grad Sch Publ Hlth, Pittsburgh, PA USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 603
BP 169S
EP 169S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101801104
ER
PT J
AU Edgar, JC
Chen, YH
Herrington, J
Bloy, L
Chow, V
Pandey, J
Levy, S
Schultz, RT
Roberts, TPL
AF Edgar, J. Christopher
Chen, Yu-Han
Herrington, John
Bloy, Luke
Chow, Vivian
Pandey, Judi
Levy, Sue
Schultz, Robert T.
Roberts, Timothy P. L.
TI Resting-state Alpha Abnormalities in ASD
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE autism spectrum disorders; alpha; resting-state; magnetoencephalography
C1 [Edgar, J. Christopher; Chen, Yu-Han; Bloy, Luke; Chow, Vivian; Roberts, Timothy P. L.] Childrens Hosp Philadelphia, Lurie Family Fdn MEG Imaging Ctr, Philadelphia, PA 19104 USA.
[Herrington, John; Pandey, Judi; Levy, Sue; Schultz, Robert T.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 784
BP 228S
EP 228S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101801284
ER
PT J
AU Khundrakpam, B
Lewis, J
Tohka, J
Evans, A
AF Khundrakpam, Budhachandra
Lewis, John
Tohka, Jussi
Evans, Alan
TI Dissociating Autistic from Normal Brains Based on Prediction of
Biological Maturity
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE Autism; Cortical Thickness; Structural MRI; Development; Predictive
Model
C1 [Khundrakpam, Budhachandra; Lewis, John; Evans, Alan] McGill Univ, Montreal Neurol Inst, McConnell Brain Imaging Ctr, Montreal, PQ, Canada.
[Tohka, Jussi] Tampere Univ Technol, Dept Signal Proc, FIN-33101 Tampere, Finland.
RI Tohka, Jussi/D-2385-2013
OI Tohka, Jussi/0000-0002-6748-5116
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 789
BP 229S
EP 229S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101801289
ER
PT J
AU Wiggins, JL
Swartz, JR
Peltier, SJ
Lord, C
Monk, CS
AF Wiggins, Jillian Lee
Swartz, Johnna R.
Peltier, Scott J.
Lord, Catherine
Monk, Christopher S.
TI Context-dependent Amygdala-prefrontal Connectivity in Youth with Autism
Spectrum Disorders
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE autism; amygdala; fMRI; connectivity; prefrontal
C1 [Wiggins, Jillian Lee] NIH, Emot & Dev Branch, Bethesda, MD 20892 USA.
[Swartz, Johnna R.] Univ N Carolina, Ctr Dev Sci, Chapel Hill, NC USA.
[Swartz, Johnna R.] Duke Univ, Lab Neurogenet, Durham, NC USA.
[Peltier, Scott J.] Univ Michigan, Funct MRI Lab, Ann Arbor, MI 48109 USA.
[Lord, Catherine] Weill Cornell Med Coll, New York, NY USA.
[Monk, Christopher S.] Univ Michigan, Ann Arbor, MI 48109 USA.
RI Monk, Christopher/J-1805-2014
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 791
BP 230S
EP 230S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101801291
ER
PT J
AU Kennedy, DN
Mitchell, TV
Hodge, S
Cochran, D
Frazier, JA
AF Kennedy, David N.
Mitchell, Teresa V.
Hodge, Steven
Cochran, David
Frazier, Jean A.
TI Altered Interhemispheric Resting- State Connectivity in Autism
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE autism; resting state fMRI; neuroimaging; corpus callosum;
interhemispheric
C1 [Kennedy, David N.; Mitchell, Teresa V.; Hodge, Steven; Cochran, David; Frazier, Jean A.] Univ Massachusetts, Worcester, MA 01605 USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 795
BP 231S
EP 232S
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101801295
ER
PT J
AU Carson, DS
Howerton, CL
Garner, JP
Libove, RA
Hyde, SA
Phillips, JM
Hardan, AY
Parker, KJ
AF Carson, Dean S.
Howerton, Christopher L.
Garner, Joseph P.
Libove, Robin A.
Hyde, Shellie A.
Phillips, Jennifer M.
Hardan, Antonio Y.
Parker, Karen J.
TI Plasma Vasopressin Levels Positively Predict Social Cognition in
Children with Autism Spectrum Disorder but not in Siblings of Probands
or Healthy Controls
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE Autism Spectrum Disorder; arginine vasopressin; biomarker; social
functioning; theory of mind
C1 [Carson, Dean S.; Howerton, Christopher L.; Garner, Joseph P.; Libove, Robin A.; Hyde, Shellie A.; Phillips, Jennifer M.; Hardan, Antonio Y.; Parker, Karen J.] Stanford Univ, Sch Med, Stanford, CA 94305 USA.
RI Garner, Joseph/C-8422-2009
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 868
BP 255S
EP 256S
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101801368
ER
PT J
AU Hollocks, MJ
Howlin, P
Simonoff, E
AF Hollocks, Matthew J.
Howlin, Patricia
Simonoff, Emily
TI Using Cognitive and Biological Measures to Independently and
Cumulatively Predict Co-Occurring Anxiety Disorders in Autism Spectrum
Disorders
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE Autism; Anxiety; Cortisol; ANS; Cognitive
C1 [Hollocks, Matthew J.; Howlin, Patricia; Simonoff, Emily] Kings Coll London, Inst Psychiat, London WC2R 2LS, England.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 866
BP 255S
EP 255S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101801366
ER
PT J
AU Dichter, GS
AF Dichter, Gabriel S.
TI Neural Mechanisms and Psychophysiology of Emotion Regulation Impairments
in Autism
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE autism; emotion regulation; psychophysiology; fMRI
C1 [Dichter, Gabriel S.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
[Dichter, Gabriel S.] Univ N Carolina, Dept Psychol, Chapel Hill, NC USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 1016
BP 280S
EP 280S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101802017
ER
PT J
AU Rannals, MD
Jaffe, AE
Page, SC
Campbell, M
Shin, JH
Tao, R
Briley, A
Hyde, TM
Kleinman, J
Weinberger, DR
Maher, BJ
AF Rannals, Matthew D.
Jaffe, Andrew E.
Page, Stephanie C.
Campbell, Morganne
Shin, Joo Heon
Tao, Ran
Briley, Aaron
Hyde, Thomas M.
Kleinman, Joel
Weinberger, Daniel R.
Maher, Brady J.
TI The Schizophrenia and Autism Spectrum Disorder Gene TCF4 Regulates
Neuronal Migration and Intrinsic Excitability in the Developing
Neocortex
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE schizophrenia; development; autism; TCF4; electrophysiology
C1 [Rannals, Matthew D.; Jaffe, Andrew E.; Page, Stephanie C.; Campbell, Morganne; Shin, Joo Heon; Tao, Ran; Briley, Aaron; Hyde, Thomas M.; Kleinman, Joel; Weinberger, Daniel R.; Maher, Brady J.] Lieber Inst Brain Dev, Baltimore, MD USA.
[Jaffe, Andrew E.] Johns Hopkins Bloomberg Sch Hlth, Baltimore, MD USA.
[Hyde, Thomas M.; Weinberger, Daniel R.; Maher, Brady J.] Johns Hopkins Sch Med, Baltimore, MD USA.
[Weinberger, Daniel R.] Johns Hopkins Sch Med, Inst Med Genet, Baltimore, MD USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 1109
BP 308S
EP 308S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101802102
ER
PT J
AU Hollander, E
Rubido, MD
Khwaja, O
Squassante, L
Ferretti, CJ
Taylor, BP
Berlin, G
Noone, R
Antar, L
McCracken, J
Scahill, L
Shic, F
Umbricht, D
AF Hollander, Eric
Rubido, Marta del Valle
Khwaja, Omar
Squassante, Lisa
Ferretti, Casara J.
Taylor, Bonnie P.
Berlin, Gregory
Noone, Rachel
Antar, Laura
McCracken, James
Scahill, Lawrence
Shic, Frederick
Umbricht, Daniel
TI Affective Speech Recognition Clinical Biomarker Effects of a Novel
Vasopressin 1a Receptor Antagonist Vs Placebo in Adult Autism
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
C1 [Hollander, Eric; Ferretti, Casara J.; Taylor, Bonnie P.; Berlin, Gregory; Noone, Rachel; Antar, Laura] Univ Hosp Albert Einstein CoM, Montefiore Med Ctr, Bronx, NY USA.
[Rubido, Marta del Valle] Roche, CNS Translat Med Grp, Basel, Switzerland.
[Khwaja, Omar; Umbricht, Daniel] Roche, Translat Med, Basel, Switzerland.
[Squassante, Lisa] Roche, Basel, Switzerland.
[McCracken, James] Univ Calif Los Angeles, Los Angeles, CA USA.
[Scahill, Lawrence] Emory Univ, Marcus Autism Ctr, Atlanta, GA 30322 USA.
[Shic, Frederick] Yale Univ, Ctr Child Study, New Haven, CT 06520 USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 1159
BP 324S
EP 325S
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101802152
ER
PT J
AU Noone, RH
Ferretti, CJ
Taylor, BP
Racine, E
Kirsch, J
Hollander, E
AF Noone, Rachel H.
Ferretti, Casara J.
Taylor, Bonnie P.
Racine, Emma
Kirsch, Jonathan
Hollander, Eric
TI Modulation of the Locus Coeruleus-Noradrenergic System with Milnacipran
vs Placebo in Autism Spectrum Disorder
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE Autism Spectrum Disorder; ASD; Milnacipran; Locus Coeruleus; Fever
Response
C1 [Noone, Rachel H.; Ferretti, Casara J.; Taylor, Bonnie P.; Racine, Emma; Kirsch, Jonathan; Hollander, Eric] Montefiore Med Ctr, Psychiat & Behav Sci Autism & Obsess Compuls Spec, Bronx, NY 10467 USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 1158
BP 324S
EP 324S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101802151
ER
PT J
AU Ou, JJ
Shi, LJ
Liu, MM
Luo, XR
Zhao, JP
AF Ou, Jianjun
Shi, Lijuan
Liu, Mengmeng
Luo, Xuerong
Zhao, Jingping
TI Parental Intelligence Quotient and Autistic Behaviors in Children with
Autism
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE autism; Parental Intelligence Quotient; Autistic Behaviors
C1 [Ou, Jianjun; Shi, Lijuan; Liu, Mengmeng; Luo, Xuerong; Zhao, Jingping] Cent S Univ, Xiangya Hosp 2, Mental Hlth Inst, Changsha, Hunan, Peoples R China.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 1169
BP 327S
EP 328S
PG 2
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101802162
ER
PT J
AU Supekar, K
Odriozola, P
Owen, M
Lynch, CJ
Iuculano, T
Menon, V
AF Supekar, Kaustubh
Odriozola, Paola
Owen, Meriel
Lynch, Charles J.
Iuculano, Teresa
Menon, Vinod
TI Fusiform-Hippocampal White-Matter Pathway Predicts both Cognitive
Strengths and Social Deficits in Children with Autism
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE autism; diffusion tensor imaging; mathematics; social communication;
white-matter
C1 [Supekar, Kaustubh; Odriozola, Paola; Owen, Meriel; Lynch, Charles J.; Iuculano, Teresa; Menon, Vinod] Stanford Univ, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 1168
BP 327S
EP 327S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101802161
ER
PT J
AU Mallya, KS
Spilman, SL
Laughlin, CP
McCracken, JT
Nurmi, EL
AF Mallya, Karyn S.
Spilman, Samantha L.
Laughlin, Christopher P.
McCracken, James T.
Nurmi, Erika L.
CA RUPP Autism Network
TI Mounting Genetic Evidence for c-AMP Dependent Protein Kinase Signaling
(PRKAR2B) in Antipsychotic-Induced Weight Gain
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE Pharmacogenetics; Pharmacogenomics; Antipsychotic-induced weight gain;
Autism; PRKAR2B
C1 [Mallya, Karyn S.; Spilman, Samantha L.; Laughlin, Christopher P.; McCracken, James T.; Nurmi, Erika L.; RUPP Autism Network] Univ Calif Los Angeles, Los Angeles, CA USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 1235
BP 348S
EP 348S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101802228
ER
PT J
AU Umbricht, D
Rubido, MD
Shik, F
McCracken, JT
Scahill, L
Khwaja, O
Squassante, L
Fontoura, P
Hollander, E
AF Umbricht, Daniel
Rubido, Marta del Valle
Shik, Fred
McCracken, James T.
Scahill, Lawrence
Khwaja, Omar
Squassante, Lisa
Fontoura, Paulo
Hollander, Eric
TI Deficient Olfaction is Associated with Impaired Ability to Recognize
Emotions in High Functioning Autistic Subjects and may be Improved by a
Vasopressin 1a Receptor Antagonist
SO BIOLOGICAL PSYCHIATRY
LA English
DT Meeting Abstract
CT 69th Annual Scientific Convention and Meeting of the
Society-of-Biological-Psychiatry
CY 2014
CL New York, NY
SP Soc Biol Psychiat
DE Autism; Olfaction; Vasopressin System; Emotion Recognition; Social
cognition
C1 [Umbricht, Daniel; Rubido, Marta del Valle; Khwaja, Omar; Squassante, Lisa; Fontoura, Paulo] F Hoffmann La Roche & Co Ltd, Neurosci, CH-4002 Basel, Switzerland.
[Shik, Fred] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06510 USA.
[McCracken, James T.] UCLA Semel Inst CAN Clin, Los Angeles, CA USA.
[Scahill, Lawrence] Marcus Autism Ctr, Atlanta, GA USA.
[Hollander, Eric] Albert Einstein Coll Med, Bronx, NY 10467 USA.
NR 0
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD MAY 1
PY 2014
VL 75
IS 9
SU S
MA 1359
BP 388S
EP 388S
PG 1
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE6KS
UT WOS:000334101802352
ER
PT J
AU Rubia, K
Alegria, A
Brinson, H
AF Rubia, Katya
Alegria, Analucia
Brinson, Helen
TI Imaging the ADHD brain: disorder-specificity, medication effects and
clinical translation
SO EXPERT REVIEW OF NEUROTHERAPEUTICS
LA English
DT Review
DE obsessive-compulsive disorder; atomoxetine; methylphenidate; diffusion
tensor imaging; attention deficit hyperactivity disorder; conduct
disorder; autism spectrum disorder; psychostimulants; MRI; functional
magnetic resonance imaging; bipolar disorder
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
DEFICIT-HYPERACTIVITY-DISORDER; FUNCTIONAL MAGNETIC-RESONANCE;
OBSESSIVE-COMPULSIVE DISORDER; PEDIATRIC BIPOLAR DISORDER; DEFAULT-MODE
NETWORK; FRONTO-STRIATAL UNDERACTIVATION; PURE CONDUCT DISORDER; 33-YEAR
FOLLOW-UP; DRUG-NAIVE BOYS
AB A plethora of magnetic resonance imaging studies have shown that ADHD is characterized by multiple functional and structural neural network abnormalities beyond the classical fronto-striatal model, including fronto-parieto-temporal, fronto-cerebellar and even fronto-limbic networks. There is evidence for a maturational delay in brain structure development which likely extends to brain function and structural and functional connectivity, but this needs corroboration by longitudinal imaging studies. Dysfunction of the ventrolateral prefrontal cortex seems to be more pronounced relative to other pediatric disorders and is also the most consistent target of acute psychostimulant medication. Future studies are likely to focus on using neuroimaging for clinical translation such as for individual diagnostic and prognostic classification and as a neurotherapy to reverse brain function abnormalities.
C1 [Rubia, Katya; Alegria, Analucia; Brinson, Helen] Kings Coll London, Dept Child & Adolescent Psychiat, Inst Psychiat, London WC2R 2LS, England.
RP Rubia, K (reprint author), Kings Coll London, Dept Child & Adolescent Psychiat, Inst Psychiat, London WC2R 2LS, England.
EM katya.rubia@kcl.ac.uk
FU Lilly Pharmaceuticals; National Institute of Health Research (NIHR)
Biomedical Research Centre (BRC) for Mental Health at South London;
Maudsley NHS Foundation Trust; Institute of Psychiatry, Kings College
London; Action Medical Research; Institute of Psychiatry PhD excellence
award
FX KR has received research support from Lilly Pharmaceuticals and
speaker's honoraria from Lilly, Medice and Novartis. KR received support
from the National Institute of Health Research (NIHR) Biomedical
Research Centre (BRC) for Mental Health at South London and Maudsley NHS
Foundation Trust and Institute of Psychiatry, Kings College London and
Lilly Pharmaceuticals. Dr Helen Brinson received post-doctoral support
from Action Medical Research. Ms Alegria was supported by an Institute
of Psychiatry PhD excellence award. The authors have no other relevant
affiliations or financial involvement with any organization or entity
with a financial interest in or financial conflict with the subject
matter or materials discussed in the manuscript. This includes
employment, consultancies, honoraria, stock ownership or options, expert
testimony, grants or patents received or pending or royalties.
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NR 162
TC 6
Z9 6
PU EXPERT REVIEWS
PI LONDON
PA UNITEC HOUSE, 3RD FL, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON N3 1QB,
ENGLAND
SN 1473-7175
EI 1744-8360
J9 EXPERT REV NEUROTHER
JI Expert Rev. Neurother.
PD MAY
PY 2014
VL 14
IS 5
BP 519
EP 538
DI 10.1586/14737175.2014.907526
PG 20
WC Clinical Neurology; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA AF6CG
UT WOS:000334801400007
PM 24738703
ER
PT J
AU Miniscalco, C
Rudling, M
Rastam, M
Gillberg, C
Johnels, JA
AF Miniscalco, Carmela
Rudling, Maja
Rastam, Maria
Gillberg, Christopher
Johnels, Jakob Asberg
TI Imitation (rather than core language) predicts pragmatic development in
young children with ASD: a preliminary longitudinal study using CDI
parental reports
SO INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS
LA English
DT Article
DE imitation; pre-linguistic skills; autism; development; CDI; pragmatic
ID AUTISM SPECTRUM DISORDERS; COMMUNICATIVE DEVELOPMENT INVENTORY; JOINT
ATTENTION; IMPAIRMENT; ENGAGEMENT; SKILLS; PLAY
AB Background
Research in the last decades has clearly pointed to the important role of language and communicative level when trying to understand developmental trajectories in children with autism spectrum disorders (ASD).
Aims
The purpose of this longitudinal study was to investigate whether (1) core language skills, measured as expressive vocabulary and grammar, and/or (2) pre-linguistic social-communicative skills, including gestures and imitation abilities, drive pragmatic language development in young children with ASD.
Methods & Procedures
We examined correlates and longitudinal predictors of pragmatic growth in a sample of 34 children with Autism spectrum disorder (ASD), whose parents were given parts of two MacArthur Communicative Developmental Inventories (CDI: Words & Gestures and CDI: Words & Sentences) for completion at two time points (at time 1 the mean child age was 41 months, and at time 2 it was 54 months). A novel feature in this study is that the relevant parts from both CDI forms were included at both time points, allowing us to examine whether pre-linguistic social-communication skills (e.g. imitation and gesturing) and/or core language skills (i.e. grammar and vocabulary) predict pragmatic language growth.
Outcomes & Results
The results show that basically all pre-linguistic, linguistic and pragmatic skills were associated concurrently. When controlling for possible confounders and for the autoregressive effect, imitation skills predicted pragmatic growth over time, whereas core language did not. This could only have been shown by the use of both CDI forms.
Conclusions & Implications
This preliminary study may be of both conceptual and methodological importance for research in the field of language and communication development in ASD. Imitation may play a pivotal role in the development of subsequent conversational pragmatic abilities in young children with ASD. Future research should be directed at unravelling the mechanisms underlying this association.
C1 [Miniscalco, Carmela; Gillberg, Christopher; Johnels, Jakob Asberg] Univ Gothenburg, Inst Neurosci & Physiol, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden.
[Miniscalco, Carmela; Johnels, Jakob Asberg] Univ Gothenburg, Inst Neurosci & Physiol, Div Speech & Language Pathol, Gothenburg, Sweden.
[Rudling, Maja; Rastam, Maria] Lund Univ, Dept Clin Sci Lund Child & Adolescent Psychiat, S-22100 Lund, Sweden.
[Johnels, Jakob Asberg] Univ Gothenburg, Dept Psychol, Gothenburg, Sweden.
RP Miniscalco, C (reprint author), Gillberg Neuropsychiat Ctr, Kungsgatan 12, S-41119 Gothenburg, Sweden.
EM carmela.miniscalco@neuro.gu.se
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NR 43
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1368-2822
EI 1460-6984
J9 INT J LANG COMM DIS
JI Int. J. Lang. Commun. Disord.
PD MAY
PY 2014
VL 49
IS 3
BP 369
EP 375
DI 10.1111/1460-6984.12085
PG 7
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AG0AZ
UT WOS:000335078200009
PM 24684579
ER
PT J
AU Siu, AFY
Zhou, Y
AF Siu, Angela F. Y.
Zhou, Ya
TI Behavioral Assessment of the Dysexecutive Syndrome for Children An
Examination of Clinical Utility for Children With Attention-Deficit
Hyperactivity Disorder (ADHD)
SO JOURNAL OF CHILD NEUROLOGY
LA English
DT Article
DE executive function; ecological validity; Hong Kong; assessment; ADHD
ID LATENT-VARIABLE ANALYSIS; PERFORMANCE-BASED MEASURES; AUTISM SPECTRUM
DISORDERS; EXECUTIVE FUNCTION; RATING INVENTORY; DEFICIT/HYPERACTIVITY
DISORDER; ECOLOGICAL VALIDITY; CONSTRUCT-VALIDITY; INTERFERENCE;
SUBTYPES
AB The present study evaluated the utility of the Behavioral Assessment of Dysexecutive Syndrome for Children for discerning differences in executive functioning between attention-deficit hyperactivity disorder (ADHD) children and normal controls and examined its associations with real-life executive function as rated by parent reports on the Dysexecutive Questionnaire for Children. Sixty-three children diagnosed with ADHD and 60 normal healthy peers were recruited for this study. All participants completed the Behavioral Assessment of Dysexecutive Syndrome for Children, while their parents completed the Dysexecutive Questionnaire for Children. Results revealed that the ADHD group exhibited significantly poorer performance than the controls on 3 subtests of the Behavioral Assessment of Dysexecutive Syndrome for Children (ie, Playing Cards Test, Water Test, and Zoo Map Test 2), as well as on the total Dysexecutive Questionnaire for Children. Significant correlation was found between the total Dysexecutive Questionnaire for Children and the 6-Part Test. Findings suggested that some subtests of the Behavioral Assessment of Dysexecutive Syndrome for Children were particularly useful for detecting real-life executive dysfunction in ADHD. Yet, further studies are needed to provide extended validity data.
C1 [Siu, Angela F. Y.; Zhou, Ya] Chinese Univ Hong Kong, Dept Educ Psychol, Shatin, Hong Kong, Peoples R China.
RP Siu, AFY (reprint author), Chinese Univ Hong Kong, Dept Educ Psychol, Shatin, Hong Kong, Peoples R China.
EM afysiu@cuhk.edu.hk
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NR 63
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0883-0738
EI 1708-8283
J9 J CHILD NEUROL
JI J. Child Neurol.
PD MAY
PY 2014
VL 29
IS 5
BP 608
EP 616
DI 10.1177/0883073813516191
PG 9
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AG0FJ
UT WOS:000335090400006
PM 24453147
ER
PT J
AU Marques, F
Brito, MJ
Conde, M
Pinto, M
Moreira, A
AF Marques, Filipa
Brito, Maria Joao
Conde, Marta
Pinto, Monica
Moreira, Ana
TI Autism Spectrum Disorder Secondary to Enterovirus Encephalitis
SO JOURNAL OF CHILD NEUROLOGY
LA English
DT Article
DE children; enterovirus; autism spectrum disorder; encephalitis
ID HERPES-SIMPLEX ENCEPHALITIS; CENTRAL-NERVOUS-SYSTEM; PCR ASSAY;
INFECTIONS; CHILDHOOD; MENINGITIS; DIAGNOSIS; SYMPTOMS; CHILDREN; COHORT
AB Millions of children are infected by enteroviruses each year, usually exhibiting only mild symptoms. Nevertheless, these viruses are also associated with severe and life-threatening infections, such as meningitis and encephalitis. We describe a 32-month-old patient with enteroviral encephalitis confirmed by polymerase chain reaction in cerebrospinal fluid, with unfavorable clinical course with marked developmental regression, autistic features, persistent stereotypes and aphasia. She experienced slow clinical improvement, with mild residual neurologic and developmental deficits at follow-up. Viral central nervous system infections in early childhood have been associated with autism spectrum disorders but the underlying mechanisms are still poorly understood. This case report is significant in presenting a case of developmental regression with autistic features and loss of language improving on follow-up. To our knowledge, this is the first published report of enterovirus encephalitis leading to an autism spectrum disorder.
C1 [Marques, Filipa; Brito, Maria Joao; Conde, Marta] Ctr Hosp Lisboa Cent EPE, Hosp Dona Estefania, Infect Dis Unit, P-1169045 Lisbon, Portugal.
[Pinto, Monica] Ctr Hosp Lisboa Cent EPE, Hosp Dona Estefania, Child Dev Ctr, P-1169045 Lisbon, Portugal.
[Moreira, Ana] Ctr Hosp Lisboa Cent EPE, Hosp Dona Estefania, Paediat Neurol Unit, P-1169045 Lisbon, Portugal.
RP Marques, F (reprint author), Ctr Hosp Lisboa Cent EPE, Hosp Dona Estefania, Infect Dis Unit, Rua Jacinto Marto, P-1169045 Lisbon, Portugal.
EM filipa3marques@gmail.com
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NR 28
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0883-0738
EI 1708-8283
J9 J CHILD NEUROL
JI J. Child Neurol.
PD MAY
PY 2014
VL 29
IS 5
BP 708
EP 714
DI 10.1177/0883073813508314
PG 7
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AG0FJ
UT WOS:000335090400022
PM 24782421
ER
PT J
AU Puts, NAJ
Wodka, EL
Tommerdahl, M
Mostofsky, SH
Edden, RAE
AF Puts, Nicolaas A. J.
Wodka, Ericka L.
Tommerdahl, Mark
Mostofsky, Stewart H.
Edden, Richard A. E.
TI Impaired tactile processing in children with autism spectrum disorder
SO JOURNAL OF NEUROPHYSIOLOGY
LA English
DT Article
DE autism; inhibition; tactile; somatosensory; psychophysics
ID GABA CONCENTRATION; CANDIDATE GENE; SENSITIVITY; ADAPTATION; DISRUPTION;
GABRB3; ADULTS; DISCRIMINATION; INDIVIDUALS; PERCEPTION
AB Impaired responses to tactile stimulation are a commonly reported symptom among children with autism spectrum disorder (ASD). Furthermore, impairments in filtering or habituation to tactile input have been described in ASD. This study measured different aspects of tactile processing to investigate atypical touch sensitivity in children with ASD, methodology that has not been previously used in this population. Sixty-seven typically developing children (TDC) and 32 children with ASD (ages 8-12) completed vibrotactile tasks assessing: reaction time (RT); static and dynamic detection threshold (DT); amplitude discrimination with and without single-site adaptation; frequency discrimination; and temporal order judgment (TOJ) with and without concurrent stimulation. Children with ASD showed raised static detection thresholds and an absence of the effect of a dynamically increasing subthreshold stimulus on static detection threshold. Children with ASD also showed poorer amplitude discrimination than TDC, as well as decreased adaptation. There were no significant differences in frequency discrimination or TOJ performance between the groups. Differences in the effect of dynamic stimulation on detection threshold suggest impaired feed-forward inhibition in autism, which may be linked to poor sensory filtering. Increased baseline amplitude discrimination thresholds in ASD suggest that lateral inhibitory connections are weaker in ASD, and an absence of the effect of adaptation suggests impaired modulation of lateral inhibitory connections in ASD, which may relate to aberrant habituation. These results suggest a functional deficit in the somatosensory inhibitory system in autism. Understanding the specific mechanisms underlying sensory symptoms in autism may allow for more specific therapeutic or drug targeting in the near future.
C1 [Puts, Nicolaas A. J.; Edden, Richard A. E.] Johns Hopkins Univ, Sch Med, Russell H Morgan Dept Radiol & Radiol Sci, Baltimore, MD 21287 USA.
[Puts, Nicolaas A. J.; Edden, Richard A. E.] Kennedy Krieger Inst, FM Kirby Ctr Funct Brain Imaging, Baltimore, MD USA.
[Wodka, Ericka L.; Mostofsky, Stewart H.] Kennedy Krieger Inst, Lab Neurocognit & Imaging Res, Baltimore, MD USA.
[Wodka, Ericka L.] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD USA.
[Mostofsky, Stewart H.] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA.
[Wodka, Ericka L.; Mostofsky, Stewart H.] Johns Hopkins Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD USA.
[Tommerdahl, Mark] Univ N Carolina, Dept Biomed Engn, Chapel Hill, NC USA.
RP Puts, NAJ (reprint author), Johns Hopkins Univ, Sch Med, Russell H Morgan Dept Radiol & Radiol Sci, 600 N Wolfe St, Baltimore, MD 21287 USA.
EM nputs1@jhmi.edu
FU Autism Speaks Translational Postdoctoral Fellowship; Organization for
Autism Research; National Institutes of Health [P41-EB-015909,
R21-MH-098228, 2-R01-NS-048527-08, 2-R01-MH-078160-06A1]; Johns Hopkins
University School of Medicine Institute for Clinical and Translational
Research National Institutes of Health/ National Center for Research
Resources Clinical and Translational Science Award Program
[UL1-RR-025005]
FX N. A. Puts is funded by an Autism Speaks Translational Postdoctoral
Fellowship. E. L. Wodka is supported by the Organization for Autism
Research. This work was further supported by National Institutes of
Health Grants P41-EB-015909, R21-MH-098228, 2-R01-NS-048527-08, and
2-R01-MH-078160-06A1 and Johns Hopkins University School of Medicine
Institute for Clinical and Translational Research National Institutes of
Health/ National Center for Research Resources Clinical and
Translational Science Award Program UL1-RR-025005. None of the funding
bodies had influence on the acquisition or analysis of the data nor on
the writing and submission of this article.
CR Blakemore SJ, 2006, BRAIN COGNITION, V61, P5, DOI 10.1016/j.bandc.2005.12.013
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NR 36
TC 6
Z9 6
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0022-3077
EI 1522-1598
J9 J NEUROPHYSIOL
JI J. Neurophysiol.
PD MAY
PY 2014
VL 111
IS 9
BP 1803
EP 1811
DI 10.1152/jn.00890.2013
PG 9
WC Neurosciences; Physiology
SC Neurosciences & Neurology; Physiology
GA AG9ZR
UT WOS:000335779300009
PM 24523518
ER
PT J
AU Kim, YS
Fombonne, E
Koh, YJ
Kim, SJ
Cheon, KA
Leventhal, BL
AF Kim, Young Shin
Fombonne, Eric
Koh, Yun-Joo
Kim, Soo-Jeong
Cheon, Keun-Ah
Leventhal, Bennett L.
TI A Comparison of DSM-IV Pervasive Developmental Disorder and DSM-5 Autism
Spectrum Disorder Prevalence in an Epidemiologic Sample
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE ASD; SCD; DSM-IV; DSM-5; prevalence
ID CRITERIA; CHILDREN
AB Objective: Changes in autism diagnostic criteria found in DSM-5 may affect autism spectrum disorder (ASD) prevalence, research findings, diagnostic processes, and eligibility for clinical and other services. Using our published, total-population Korean prevalence data, we compute DSM-5 ASD and social communication disorder (SCD) prevalence and compare them with DSM-IV pervasive developmental disorder (PDD) prevalence estimates. We also describe individuals previously diagnosed with DSM-IV PDD when diagnoses change with DSM-5 criteria. Method: The target population was all children from 7 to 12 years of age in a South Korean community (N = 55,266), those in regular and special education schools, and a disability registry. We used the Autism Spectrum Screening Questionnaire for systematic, multi-informant screening. Parents of screen-positive children were offered comprehensive assessments using standardized diagnostic procedures, including the Autism Diagnostic Interview Revised and Autism Diagnostic Observation Schedule. Best-estimate clinical diagnoses were made using DSM-IV PDD and DSM-5 ASD and SCD criteria. Results: DSM-5 ASD estimated prevalence was 2.20% (95% confidence interval = 1.77-3.64). Combined DSM-5 ASD and SCD prevalence was virtually the same as DSM-IV PDD prevalence (2.64%). Most children with autistic disorder (99%), Asperger disorder (92%), and PDD-NOS (63%) met DSM-5 ASD criteria, whereas 1%, 8%, and 32%, respectively, met SCD criteria. All remaining children (2%) had other psychopathology, principally attention-deficit/hyperactivity disorder and anxiety disorder. Conclusion:. Our findings suggest that most individuals with a prior DSM-IV PDD meet DSM-5 diagnostic criteria for ASD and SCD. PDD, ASD or SCD; extant diagnostic criteria identify a large, clinically meaningful group of individuals and families who require evidence-based services.
C1 [Kim, Young Shin] Yale Univ, Ctr Child Study, New Haven, CT 06520 USA.
[Kim, Young Shin; Leventhal, Bennett L.] Nathan S Kline Inst Psychiat Res, Orangeburg, NY 10962 USA.
[Kim, Young Shin; Cheon, Keun-Ah; Leventhal, Bennett L.] Yonsei Univ, Seoul 120749, South Korea.
[Fombonne, Eric] Oregon Hlth & Sci Univ, Portland, OR 97201 USA.
[Koh, Yun-Joo] Korea Inst Childrens Social Dev Rudolph, Seoul, South Korea.
[Kim, Soo-Jeong] Univ Washington, Seattle, WA 98195 USA.
[Leventhal, Bennett L.] Univ Illinois, Chicago, IL USA.
RP Leventhal, BL (reprint author), Nathan S Kline Inst Psychiat Res, 140 Old Orangeburg Rd,Bldg 35, Orangeburg, NY 10962 USA.
FU Autism Speaks Pilot Research Grant; Brain Research Foundation; Simons
Foundation [137032 M134793]; National Institute for Mental Health (NIMH)
[5K01MH079317-02, K23MH082883]; National Institute of Environmental
Health Sciences (NIEHS) [R01 ES021462-01]; Korean Health Technology
Research and Development Project, Ministry of Health and Welfare
[HI12C0021, HI12C0245-A120029]; Jean Young and Walden W. Shaw
Foundation; Daniel X. and Mary Freedman Foundation; Dukyoung Foundation;
[7996]
FX This research was funded by an Autism Speaks Pilot Research Grant, and a
Supplement Grant (7996), a Brain Research Foundation Research Grant, a
Simons Foundation Autism Research Initiative Pilot Grant (137032
M134793), the National Institute for Mental Health (NIMH) Career Awards
(5K01MH079317-02 [Y.S.K.] and K23MH082883 [S.J.K.]), the National
Institute of Environmental Health Sciences (NIEHS) R01 Award (R01
ES021462-01), and the Korean Health Technology Research and Development
Project, Ministry of Health and Welfare (HI 12C0021;
HI12C0245-A120029).Additional funding was provided by the Jean Young and
Walden W. Shaw Foundation, the Daniel X. and Mary Freedman Foundation,
and the Dukyoung Foundation.
CR American Psychiatric Association, 2013, DSM5 AM PSYCH ASS
American Psychiatric Association, 2013, A05 SOC COMM
[Anonymous], 2012, NY TIMES
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TC 2
Z9 3
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
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EI 1527-5418
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PY 2014
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IS 5
BP 500
EP 508
DI 10.1016/j.jaac.2013.12.021
PG 9
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AG0HJ
UT WOS:000335096200004
PM 24745950
ER
PT J
AU Jordan, L
AF Jordan, Lisa
TI Kids in the Syndrome Mix of ADHD, LD, Autism Spectrum, Tourette's,
Anxiety, and More! The One Stop Guide for Parents, Teachers, and Other
Professionals, 2nd edition
SO LIBRARY JOURNAL
LA English
DT Book Review
C1 [Jordan, Lisa] Johnsen Cty Lib, Gardner, KS 66030 USA.
RP Jordan, L (reprint author), Johnsen Cty Lib, Gardner, KS 66030 USA.
CR KUTSCHER ML, 2014, KIDS SYNDROME MIX AD
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Z9 0
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PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010 USA
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GA AG3DN
UT WOS:000335296100130
ER
PT J
AU Strickland, AD
AF Strickland, Alan D.
TI Prevention of cerebral palsy, autism spectrum disorder, and attention
deficit - Hyperactivity disorder
SO MEDICAL HYPOTHESES
LA English
DT Article
ID FETAL HYPOXIA-ISCHEMIA; FATTY-ACID COMPOSITION; WHITE-MATTER;
DEFICIT/HYPERACTIVITY DISORDER; DOCOSAHEXAENOIC ACID; NEONATAL-RATS;
BRAIN; INFLAMMATION; MICROGLIA; DAMAGE
AB This hypothesis states that cerebral palsy (CP), autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD) are all caused by an exaggerated central nervous system inflammatory response to a prenatal insult. This prenatal insult may be one or more episodes of ischemia-reperfusion, an infectious disease of the mother or the fetus, or other causes of maternal inflammation such as allergy or autoimmune disease. The resultant fetal inflammatory hyper-response injures susceptible neurons in the developing white matter of the brain in specific areas at specific gestational ages. The exaggerated neuroinflammatory response is theorized to occur between about 19 and 34 post-conception weeks for CP, about 32 and 40 weeks for ADHD, and about 36 and 48 weeks (i.e. 2 months after delivery) for ASD. The exaggerated inflammatory response is hypothesized to occur because present diets limit intake of effective antioxidants and omega-3 polyunsaturated fatty acids while increasing intake of omega-6 polyunsaturated fatty acids. Oxidation products of the omega-3 fatty acids docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA) limit neuroinflammation while oxidation products of the omega-6 fatty acid arachidonic acid exacerbate inflammation. Preventative treatment should begin in all pregnant women during the first trimester and should include both DHA and an effective antioxidant for prevention of neuroinflammation. The suggested antioxidant would be N-acetylcysteine, though melatonin could be chosen instead. Combined DHA and NAC therapy is theorized to decrease the incidence of the three disorders by more than 75%. (C) 2014 Elsevier Ltd. All rights reserved.
RP Strickland, AD (reprint author), 101 Waterlily, Lake Jackson, TX 77566 USA.
EM astricklandcons@gmail.com
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NR 71
TC 3
Z9 3
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 0306-9877
EI 1532-2777
J9 MED HYPOTHESES
JI Med. Hypotheses
PD MAY
PY 2014
VL 82
IS 5
BP 522
EP 528
DI 10.1016/j.mehy.2014.02.003
PG 7
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AG0KT
UT WOS:000335105100004
PM 24581674
ER
PT J
AU Wen, W
Wen, SW
AF Wen, Wendy
Wen, Shi Wu
TI Expanding upon the 'extreme male brain' theory of autism as a common
link between other major risk factors: A hypothesis
SO MEDICAL HYPOTHESES
LA English
DT Article
ID SEX-DIFFERENCES; EMPATHY QUOTIENT; AGGRESSION; MECHANISMS
AB On average, males have a stronger preference for physical systems and machines over interpersonal interactions; they have lower average levels of cognitive empathy or social cognition than females; and they have higher rates of 'extreme' intelligence when it comes to abstract concepts such as those found in mathematics and sciences. All three traits are also commonly associated with individuals with an autism spectrum disorder or ASD; clearly, it is not coincidental that incidence rates of autism are reportedly four times higher in males than in females.
The common link between the majority of risk factors assessed in this review (including technological advancements, advanced parental age, socioeconomic status, and genetic predispositions towards ASDs in families of scientists and engineers) can be traced to a specific hormone, testosterone. It was established that traits which are typically associated with males are also typically associated with ASDs as well as individuals with antisocial personality disorder, or APD. The key distinction between individuals who are considered to be 'autistic' as opposed to those who are considered 'sociopathic' lies in the difference between their empathy deficits: whereas those who are 'autistic' are said to lack cognitive empathy (the ability to identify and understand the thoughts and feelings of others and to respond to these with appropriate emotions), those who are 'sociopathic' are said to lack emotional empathy (which is responsible for inhibiting acts of physical aggression or violence). This would explain why autistic individuals can have elevated testosterone levels without becoming physically aggressive. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Wen, Wendy] Univ Ottawa, Dept Math & Stat, Fac Sci, Ottawa, ON K1H 8L6, Canada.
[Wen, Shi Wu] Univ Ottawa, Dept Obstet & Gynecol, OMNI Res Grp, Ottawa, ON K1H 8L6, Canada.
[Wen, Shi Wu] Ottawa Hosp Res Inst, Clin Epidemiol Program, Ottawa, ON, Canada.
[Wen, Shi Wu] Univ Ottawa, Dept Epidemiol & Community Med, Ottawa, ON K1H 8L6, Canada.
RP Wen, SW (reprint author), Univ Ottawa, Dept Obstet & Gynecol, OMNI Res Grp, Fac Med, 501 Smyth Rd,Box 241, Ottawa, ON K1H 8L6, Canada.
EM swwen@ohri.ca
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NR 21
TC 0
Z9 0
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 0306-9877
EI 1532-2777
J9 MED HYPOTHESES
JI Med. Hypotheses
PD MAY
PY 2014
VL 82
IS 5
BP 615
EP 618
DI 10.1016/j.mehy.2014.02.020
PG 4
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AG0KT
UT WOS:000335105100019
PM 24629356
ER
PT J
AU Lionello-DeNolf, KM
Farber, R
Jones, BM
Dube, WV
AF Lionello-DeNolf, Karen M.
Farber, Rachel
Jones, B. Max
Dube, William V.
TI Thematic matching as remedial teaching for symbolic matching for
individuals with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Matching-to-sample; Symbolic behavior; Thematic matching; Children with
ASD
ID COMMUNICATION-SYSTEM PECS; MENTALLY-RETARDED ADULTS; CONDITIONAL
DISCRIMINATION; ERROR-CORRECTION; CHILDREN; DISABILITIES; EQUIVALENCE;
ACQUISITION; SKILLS
AB Matching-to-sample (MTS) is often used to teach symbolic relationships between spoken or printed words and their referents to children with intellectual and developmental disabilities. However, many children have difficulty learning symbolic matching, even though they may demonstrate generalized identity matching. The current study investigated whether training on symbolic MTS tasks in which the stimuli are physically dissimilar but members of familiar categories (i.e., thematic matching) can remediate an individual's difficulty learning symbolic MTS tasks involving non-representative stimuli. Three adolescent males diagnosed with autism spectrum disorder were first trained on symbolic MTS tasks with unfamiliar, non-representative form stimuli. Thematic matching was introduced after the participants failed to learn 0, 2 or 4 symbolic MTS tasks and before additional symbolic MTS tasks were introduced. After exposure to thematic matching, accuracy on symbolic MTS tasks with novel stimuli increased to above chance for all participants. For two participants, high accuracy (>90%) was achieved on a majority of these sessions. Thus, thematic matching may be an effective intervention for students with limited verbal repertoires and who have difficulty learning symbolic MTS tasks. Possible explanations for the facilitative effect of thematic matching are considered and warrant further investigation. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Lionello-DeNolf, Karen M.; Farber, Rachel; Dube, William V.] Univ Massachusetts, Sch Med, Shriver Ctr, Worcester, MA 01655 USA.
[Jones, B. Max] Curtin Univ, Sch Psychol & Speech Pathol, Perth, WA 6845, Australia.
RP Lionello-DeNolf, KM (reprint author), Univ Massachusetts, Sch Med, Shriver Ctr, Lake Ave North S3-301, Worcester, MA 01655 USA.
EM Karen.Lionello-DeNolf@umassmed.edu; Rachel.Farber@umassmed.edu;
Brent.jones@curtin.edu.au; William.Dube@umassmed.edu
CR BARNES D, 1994, PSYCHOL REC, V44, P91
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NR 33
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2014
VL 8
IS 5
BP 455
EP 462
DI 10.1016/j.rasd.2014.01.004
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AG0LO
UT WOS:000335107200001
ER
PT J
AU Horlin, C
Albrecht, MA
Falkmer, M
Leung, D
Ordqvist, A
Tan, T
Lee, WL
Falkmer, T
AF Horlin, Chiara
Albrecht, Matthew A.
Falkmer, Marita
Leung, Denise
Ordqvist, Anna
Tan, Tele
Lee, Wee Lih
Falkmer, Torbjorn
TI Visual search strategies of children with and without autism spectrum
disorders during an embedded figures task
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE ASD; Eye tracking; Embedded figures test; Visual search
ID ASPERGER SYNDROME; SUPERIOR; PERFORMANCE; COHERENCE; ADULTS
AB Individuals with ASD often demonstrate superior performance on embedded figures tasks (EFTs). We investigated visual scanning behaviour in children with ASD during an EFT in an attempt replicating a previous study examining differences in visual search behaviour. Twenty-three children with, and 31 children without an ASD were shown 16 items from the Figure-Ground subtest of the TVPS-3 while wearing an eye tracker. Children with ASD exhibited fewer fixations, and less time per fixation, on the target figure. Accuracy was similar between the two groups. There were no other noteworthy differences between children with and without ASD. Differences in visual scanning patterns in the presence of typical behavioural performance suggest that any purported differences in processing style may not be detrimental to cognitive performance and further refinement of the current methodology may lead to support for a purported advantageous cognitive style. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Horlin, Chiara; Falkmer, Marita; Leung, Denise; Falkmer, Torbjorn] Curtin Univ, CHIRI, Sch Occupat Therapy & Social Work, Perth, WA 6845, Australia.
[Albrecht, Matthew A.] Curtin Univ, Sch Psychol & Speech Pathol, CHIRI, Perth, WA 6845, Australia.
[Falkmer, Marita] Jonkoping Univ, Inst Disabil Res, CHILD Programme, Sch Educ & Commun, Jonkoping, Sweden.
[Ordqvist, Anna; Falkmer, Torbjorn] Linkoping Univ, Fac Hlth Sci, Dept Med & Hlth Sci IMH, SE-58185 Linkoping, Sweden.
[Ordqvist, Anna; Falkmer, Torbjorn] Pain & Rehabil Ctr, SE-58185 Linkoping, Sweden.
[Tan, Tele] Curtin Univ, Dept Mech Engn, Perth, WA 6845, Australia.
[Lee, Wee Lih] Curtin Univ, Dept Elect & Comp Engn, Perth, WA 6845, Australia.
[Falkmer, Torbjorn] La Trobe Univ, Sch Occupat Therapy, Melbourne, Vic 3086, Australia.
RP Falkmer, T (reprint author), Curtin Univ Technol, CHIRI, Sch Occupat Therapy & Social Work, Fac Hlth Sci, GPO Box U1987, Perth, WA 6845, Australia.
EM T.Falkmer@curtin.edu.au
CR Albrecht M. A., 2014, J AUTISM DEV DISORDE
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NR 29
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2014
VL 8
IS 5
BP 463
EP 471
DI 10.1016/j.rasd.2014.01.006
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AG0LO
UT WOS:000335107200002
ER
PT J
AU Stasolla, F
Perilli, V
Damiani, R
AF Stasolla, Fabrizio
Perilli, Viviana
Damiani, Rita
TI Self monitoring to promote on-task behavior by two high functioning boys
with autism spectrum disorders and symptoms of ADHD
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Self monitoring; Autism spectrum disorders; ADHD; Stereotypy; Indices of
happiness; Social validation
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; SCANNING KEYBOARD EMULATOR;
MICROSWITCH-BASED PROGRAMS; DEVELOPMENTAL-DISABILITIES; MOTOR
DISABILITIES; MULTIPLE DISABILITIES; YOUNG-CHILDREN; INTERVENTION;
ENGAGEMENT; MANAGEMENT
AB We assessed a self-monitoring procedure to promote on-task behavior in classroom by two high functioning boys with autism spectrum and attention deficit hyperactivity disorders.A second aim of the study was to reduce stereotyped behaviors for both boys. Finally, a third goal was to verify the effects of the intervention on the participant's mood. The study was conducted according to a non concurrent multiple baseline design across participants. Results show an increase of on-task behavior and indices of happiness during the intervention phase. Moreover, the stereotyped behaviors decreased during intervention phase for both boys. Participants maintained their performance during the maintenance phase, which occurred a month after the end of the intervention. The effectiveness of the rehabilitation program was confirmed by 72 university students involved in a social validation assessment as raters. Psychological and practical implications of the findings are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Stasolla, Fabrizio] Lega del Filo dOro Res Ctr, Molfetta, Italy.
[Perilli, Viviana] Lega del Filo dOro Res Ctr, Lesmo, Italy.
[Damiani, Rita] Univ Bari, Dept Educ Sci, I-70121 Bari, Italy.
RP Stasolla, F (reprint author), Lega del Filo dOro Res Ctr, Molfetta, Italy.
EM f.stasolla@psico.uniba.it
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NR 62
TC 6
Z9 6
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2014
VL 8
IS 5
BP 472
EP 479
DI 10.1016/j.rasd.2014.01.007
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AG0LO
UT WOS:000335107200003
ER
PT J
AU Daou, N
Vener, SM
Poulson, CL
AF Daou, Nidal
Vener, Susan M.
Poulson, Claire L.
TI Analysis of three components of affective behavior in children with
autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Affective behavior; Applied behavior analysis; Autism; Emotion; Facial
expression; Vocal intonation
ID GENERALIZED IMITATION; SKILLS; EXPRESSION; YOUTH
AB Affective behavior is a crucial ingredient for appropriate, sustainable social interactions. People with autism have deficits in social interaction that are apparent in nonverbal behavior. Few studies have applied behavioral procedures to increase appropriate affective responding in people with autism. This study adds to that literature by examining three components of affective behavior, thus reinforcing the notion that it is not only what the learner says (verbal responding), but also how she says it (vocal intonation); not only whether the learner makes eye contact with his conversation partner, but also how he presents himself (facial expression). A multiple-baseline design evaluated the effects of an affect-training program on the percentage of appropriate responding emitted by three children with autism. The program consisted of reinforcement, prompting, script-fading, and shaping procedures. The percentage of appropriate affective responding emitted by participants across categories increased systematically following treatment; so did performance on nonreinforced probes. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Daou, Nidal; Poulson, Claire L.] CUNY Queens Coll, Flushing, NY 11367 USA.
[Daou, Nidal; Poulson, Claire L.] CUNY, Grad Ctr, New York, NY 10016 USA.
[Daou, Nidal; Vener, Susan M.] New York Child Learning Inst, Coll Point, NY 11356 USA.
RP Daou, N (reprint author), Amer Univ Beirut, Dept Psychol, Beirut 11072020, Lebanon.
EM nn07@aub.edu.lb; nyclismv@nycli.org; claire.poulson@qc.cuny.edu
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NR 28
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2014
VL 8
IS 5
BP 480
EP 501
DI 10.1016/j.rasd.2014.01.005
PG 22
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AG0LO
UT WOS:000335107200004
ER
PT J
AU Cervantes, PE
Matson, JL
Williams, LW
Jang, JN
AF Cervantes, Paige E.
Matson, Johnny L.
Williams, Lindsey W.
Jang, Jina
TI The effect of cognitive skills and autism spectrum disorder on
stereotyped behaviors in infants and toddlers
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE ASD; Stereotypies; BISCUIT; BDI-2; Cognitive skills
ID PERVASIVE DEVELOPMENTAL DISORDER; SELF-INJURIOUS-BEHAVIOR; INTELLECTUAL
DISABILITY; CHALLENGING BEHAVIORS; REPETITIVE BEHAVIORS; VOCAL
STEREOTYPY; MOTOR STEREOTYPIES; CHILDREN; ADULTS; AGGRESSION
AB Stereotyped behaviors are prominent in both the ASD and ID populations; stereotypies can impede social skill acquisition, interfere with learning, and adversely affect an individual's quality of life. The current study explored the effect of cognitive skills and autism spectrum disorder (ASD) on the rate of stereotypies in 2019 children aged 17-39 months. Cognitive abilities were assessed using the cognitive developmental quotient (DQ) on the Battelle Developmental Inventory, Second Edition (BDI-2); two levels of cognitive skill were used: (1) low (cognitive DQ less than or equal to 70), and (2) typical (cognitive DQ greater than 70). Stereotypies were examined utilizing the Baby and Infant Screen for Children with aUtIsm Traits, Part 3 (BISCUIT-Part 3). Children with ASD were found to have greater rates of overall stereotyped behaviors compared to children with atypical development, regardless of cognitive level; however, children with ASD and typical cognitive ability evinced the highest rate of stereotypies. An examination of specific stereotyped behaviors (i.e., unusual play with objects, repeated and unusual vocalizations, repeated and unusual body movements) revealed disparate results. Research and clinical implications regarding these findings are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Cervantes, Paige E.; Matson, Johnny L.; Williams, Lindsey W.; Jang, Jina] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Cervantes, PE (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM pcerva2@lsu.edu
CR Ahearn WH, 2007, J APPL BEHAV ANAL, V40, P263, DOI 10.1901/jaba.2007.30-06
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Matson JL, 2009, RES DEV DISABIL, V30, P1203, DOI 10.1016/j.ridd.2009.04.001
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NR 51
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2014
VL 8
IS 5
BP 502
EP 508
DI 10.1016/j.rasd.2014.01.008
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AG0LO
UT WOS:000335107200005
ER
PT J
AU Van der Paelt, S
Warreyn, P
Roeyers, H
AF Van der Paelt, Sara
Warreyn, Petra
Roeyers, Herbert
TI Social-communicative abilities and language in preschoolers with autism
spectrum disorders: Associations differ depending on language age
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Language development; Imitation; Joint
attention; Pretend play; Social-communicative abilities
ID JOINT ATTENTION; YOUNG-CHILDREN; INDIVIDUAL-DIFFERENCES; PRETEND PLAY;
2ND YEAR; IMITATION; ACQUISITION; TODDLERS; INFANTS; SKILLS
AB The aim of this study was to look at the unique contributions of imitation, pretend play and joint attention to differences in receptive and expressive language. Associations between social-communicative and language abilities were assessed thoroughly in a large sample (n = 83) of preschoolers with ASD. We hypothesized that these associations are dependent of language age. Therefore the sample was divided in two subsamples based on either the receptive or expressive language age for each of the analyses. Results revealed that imitation, pretend play, response to joint attention and imperative and declarative joint attention, were all uniquely associated with language. However, these relationships were different for receptive and expressive language and they also differed depending on the language age of the children. While imitation and pretend play showed unique associations with language in children with a language age under 2 years old and children with a language age above 2 years old, joint attention abilities were only uniquely associated with language in children with the youngest language age. These findings lend support to the idea that social-communicative abilities are important intervention targets for children with ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Van der Paelt, Sara; Warreyn, Petra; Roeyers, Herbert] Univ Ghent, Dept Expt Clin & Hlth Psychol, Res Grp Dev Disorders, B-9000 Ghent, Belgium.
RP Van der Paelt, S (reprint author), Univ Ghent, Dept Expt Clin & Hlth Psychol, Henri Dunantlaan 2, B-9000 Ghent, Belgium.
EM Sara.Vanderpaelt@ugent.be; Petra.Warreyn@ugent.be;
Herbert.roeyers@ugent.be
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NR 54
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2014
VL 8
IS 5
BP 518
EP 528
DI 10.1016/j.rasd.2014.01.010
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AG0LO
UT WOS:000335107200007
ER
PT J
AU Lanovaz, MJ
Rapp, JT
Maciw, I
Pregent-Pelletier, E
Dorion, C
Ferguson, S
Saade, S
AF Lanovaz, Marc J.
Rapp, John T.
Maciw, Isabella
Pregent-Pelletier, Emilie
Dorion, Catherine
Ferguson, Stephanie
Saade, Sabine
TI Effects of multiple interventions for reducing vocal stereotypy:
Developing a sequential intervention model
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Differential reinforcement; Intervention model; Music; Prompting;
Stereotypy
ID AUTISM SPECTRUM DISORDERS; RESPONSE INTERRUPTION; NONCONTINGENT
REINFORCEMENT; DEVELOPMENTAL-DISABILITIES; AUTOMATIC REINFORCEMENT;
CHILDREN; BEHAVIOR; STIMULATION; REDIRECTION; MUSIC
AB Despite the availability of several interventions designed to reduce engagement in vocal stereotypy, few studies have compared two or more interventions together. Consequently, practitioners have limited amount of data to make informed decisions on whether an intervention may be more suitable than another to begin treating vocal stereotypy. The purpose of the study was to address this limitation by examining the direct and collateral effects of multiple interventions in 12 individuals with autism and other developmental disabilities in order to guide the development of a sequential intervention model. Using single-case experimental designs, we conducted a series of four experiments which showed that (a) noncontingent music generally produced more desirable outcomes than differential reinforcement of alternative behavior, (b) differential reinforcement of other behavior reduced vocal stereotypy in two participants for whom noncontingent music had failed to do so, (c) the addition of simple prompting procedures may enhance the effects of the interventions, and (d) the effects of noncontingent music may persist during sessions with extended durations. Based on these results, we propose a sequential intervention model to facilitate the initial and subsequent selection of an intervention most likely to reduce vocal stereotypy while producing desired collateral outcomes. (C) 2014 The Authors. Published by Elsevier Ltd. All rights reserved.
C1 [Lanovaz, Marc J.; Maciw, Isabella; Pregent-Pelletier, Emilie; Dorion, Catherine; Ferguson, Stephanie; Saade, Sabine] Univ Montreal, Ecole Psychoeduc, Montreal, PQ H3C 3J7, Canada.
[Rapp, John T.] Auburn Univ, Dept Psychol, Auburn, AL 36849 USA.
RP Lanovaz, MJ (reprint author), Univ Montreal, Ecole Psychoeduc, CP 6128,Succ Ctr Ville, Montreal, PQ H3C 3J7, Canada.
EM marc.lanovaz@umontreal.ca
CR Ahearn WH, 2007, J APPL BEHAV ANAL, V40, P263, DOI 10.1901/jaba.2007.30-06
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Rozenblat E, 2009, BEHAV INTERVENT, V24, P1, DOI 10.1002/bin.270
Saylor S, 2012, J APPL BEHAV ANAL, V45, P185, DOI 10.1901/jaba.2012.45-185
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NR 31
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2014
VL 8
IS 5
BP 529
EP 545
DI 10.1016/j.rasd.2014.01.009
PG 17
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AG0LO
UT WOS:000335107200008
ER
PT J
AU Magiati, I
Chan, JY
Tan, WLJ
Poon, KK
AF Magiati, Iliana
Chan, Jing Yi
Tan, Wen-Li Julianne
Poon, Kenneth K.
TI Do non-referred young people with Autism Spectrum Disorders and their
caregivers agree when reporting anxiety symptoms? A preliminary
investigation using the Spence Children's Anxiety Scale
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Anxiety; Assessment; Screening; Agreement; Reliability
ID PSYCHOMETRIC PROPERTIES; ASPERGER-SYNDROME; PSYCHIATRIC-DISORDERS;
BEHAVIORAL-PROBLEMS; CONTROLLED-TRIAL; ADOLESCENTS; PARENT; YOUTH;
SAMPLE; RELIABILITY
AB Anxiety difficulties and disorders are common in children and youth people with Autism Spectrum Disorders (ASD), but only a few studies have specifically examined informant agreement in non-referred samples. The present study examined informant agreement between 38 Singaporean caregiver-child dyads using the Spence Children's Anxiety Scale Parent Version (SCAS-P) and the SCAS Child self-report (SCAS-C) respectively. The young people with ASD (mean age 12 years 10 months) completed the SCAS-C, while their caregivers completed the SCAS-P, the Scales of Independent Behavior-Revised and the Developmental Behavior Checklist. There was overall moderately good agreement between caregivers and children's reporting of anxiety symptoms. Intra-class correlations were highest in the Separation Anxiety, Generalized Anxiety and Physical Injury subscales. Fourteen of the 38 SCAS items, most of which described overt anxiety symptoms, showed strong or moderate inter-rater agreement. Higher severity of autism symptoms was associated with poorer agreement in the Generalized Anxiety, Panic and Obsessions/Compulsions SCAS subscales. These preliminary findings suggest that the SCAS may be a useful measure for reporting anxiety symptoms in terms of satisfactory agreement between caregivers and young people in non-referred settings. Implications for screening for anxiety in non-referred young people with ASD are also discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Magiati, Iliana; Chan, Jing Yi; Tan, Wen-Li Julianne] Natl Univ Singapore, Dept Psychol, Singapore 117570, Singapore.
[Poon, Kenneth K.] Natl Inst Educ, Singapore 637616, Singapore.
RP Magiati, I (reprint author), Natl Univ Singapore, Dept Psychol, 9 Arts Link, Singapore 117570, Singapore.
EM psyim@nus.edu.sg; jingyi32@gmail.com; tan.julianne@gmail.com;
kenneth.poon@nie.edu.sg
RI Chan, Julia/C-5392-2008
OI Chan, Julia/0000-0003-4434-2160
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Zainal H., 2014, J AUTISM DE IN PRESS
NR 62
TC 3
Z9 3
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2014
VL 8
IS 5
BP 546
EP 558
DI 10.1016/j.rasd.2014.01.015
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AG0LO
UT WOS:000335107200009
ER
PT J
AU Albrecht, MA
Foster, JK
Joosten, A
Falkmer, M
Tang, J
Leung, D
Ordqvist, A
Falkmer, T
AF Albrecht, Matthew A.
Foster, Jonathan K.
Joosten, Annette
Falkmer, Marita
Tang, Julia
Leung, Denise
Ordqvist, Anna
Falkmer, Torbjorn
TI Visual search strategies during facial recognition in children with ASD
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Face recognition; Eye-tracking; Developmental; Visual search
ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; ASPERGER SYNDROME;
FACE RECOGNITION; COGNITIVE-STYLE; EYE-TRACKING; ABILITY
AB Facial recognition is a complex skill necessary for successful human interpersonal and social interactions. Given that the most prevalent disorder of social interaction is autism spectrum disorder (ASD), a number of studies have investigated and found impaired facial recognition abilities in people with ASD. Further, this impairment may be critically involved in mediating the deficits in interpersonal and social interactions in people with ASD. We sought to address the question of whether face processing is impaired in children with ASD in the current study. While there were a number of differences in visual search behaviours between the 19 children with ASD and the 15 controls, this did not manifest in deficits in facial recognition accuracy. In addition, there were notable differences with respect to eye fixation behaviours and recognition accuracy in this study compared to the findings in a previous similar study conducted in adults with ASD. These differences suggest a performance enhancing developmental trajectory in facial processing in controls that may not be present in individuals with ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Albrecht, Matthew A.; Foster, Jonathan K.] Curtin Univ, Sch Psychol & Speech Pathol, Perth, WA 6845, Australia.
[Foster, Jonathan K.] Dept WA, Neurosci Unit, Perth, WA, Australia.
[Joosten, Annette; Falkmer, Marita; Tang, Julia; Leung, Denise; Ordqvist, Anna; Falkmer, Torbjorn] Curtin Univ, CHIRI, Sch Occupat Therapy & Social Work, Perth, WA 6845, Australia.
[Falkmer, Marita] Jonkoping Univ, Inst Disabil Res, CHILD Programme, Sch Educ & Commun, Jonkoping, Sweden.
[Falkmer, Torbjorn] Jonkoping Univ, Sch Hlth Sci, Dept Rehabil, Jonkoping, Sweden.
[Falkmer, Torbjorn] Linkoping Univ, Fac Hlth Sci, Dept Med & Hlth Sci IMH, Linkoping, Sweden.
[Falkmer, Torbjorn] Pain & Rehabil Ctr, Linkoping, Sweden.
[Falkmer, Torbjorn] La Trobe Univ, Sch Occupat Therapy, Melbourne, Vic, Australia.
RP Falkmer, T (reprint author), Curtin Univ Technol, CHIRI, Sch Occupat Therapy & Social Work, Fac Hlth Sci, GPO Box U1987, Perth, WA 6845, Australia.
EM T.Falkmer@curtin.edu.au
CR Bar-Haim Y, 2006, J AUTISM DEV DISORD, V36, P131, DOI 10.1007/s10803-005-0046-1
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Plummer Martyn, 2003, P 3 INT WORKSH DISTR
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NR 32
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2014
VL 8
IS 5
BP 559
EP 569
DI 10.1016/j.rasd.2014.01.014
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AG0LO
UT WOS:000335107200010
ER
PT J
AU Hong, ER
Ganz, JB
Gilliland, W
Ninci, J
AF Hong, Ee Rea
Ganz, Jennifer B.
Gilliland, Whitney
Ninci, Jennifer
TI Teaching caregivers to implement an augmentative and alternative
communication intervention to an adult with ASD
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Adult with autism; Complex communication needs; Tap to Talk (TM)
application; Primary caregivers; AAC implementation; Single-case
research
ID AUTISM SPECTRUM DISORDERS; PARTICIPANT CHARACTERISTICS; PSYCHOSOCIAL
OUTCOMES; TREATMENT INTEGRITY; SPECIAL-EDUCATION; YOUNG-CHILDREN;
FOLLOW-UP; LANGUAGE; INDIVIDUALS; PARADIGM
AB Many researchers have investigated the effectiveness of augmentative and alternative communication (AAC) systems on improving communication skills of children with autism spectrum disorder (ASD) and communication complex needs (CCN); however, few studies included adults with ASD. Also, there is a lack of research on primary caregiver implemented interventions with high treatment fidelity although primary caregiver-implemented interventions have been used effectively with adults with ASD and their families. This study investigated the accuracy of primary caregivers' implementation of a tablet-computer based AAC system while they were providing instruction to an adult with ASD. Also, independent use of AAC system of the participant was examined. We implemented a multiple probe design across three instructional coaching steps to examine the accuracy of the caregivers' AAC implementation. One adult with autism and CCN and his four primary caregivers participated in this study, twice a week for seven weeks. Both visual and statistical analyses were utilized. Results indicated that, with instructional coaching, all of the caregivers were able to implement the procedures of the AAC mode with the participant accurately, as demonstrated via visual inspection and statistical analyses. Nevertheless, there was little improvement in the participant's independent use of the AAC mode. Limitations and suggestions for future researchers are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hong, Ee Rea; Ganz, Jennifer B.; Gilliland, Whitney; Ninci, Jennifer] Texas A&M Univ, College Stn, TX 77843 USA.
RP Hong, ER (reprint author), Texas A&M Univ, College Stn, TX 77843 USA.
EM ghdeerea@neo.tamu.edu
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NR 46
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2014
VL 8
IS 5
BP 570
EP 580
DI 10.1016/j.rasd.2014.01.012
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AG0LO
UT WOS:000335107200011
ER
PT J
AU Bjorgaas, HM
Elgen, I
Ryland, HK
Hysing, M
AF Bjorgaas, H. M.
Elgen, I.
Ryland, H. K.
Hysing, M.
TI Autism spectrum symptoms in children with cerebral palsy: Prevalence and
co-occurring conditions
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Cerebral palsy; Mental health; Psychiatric
disorders; Peer problems
ID SCHOOL-AGE-CHILDREN; SCREENING QUESTIONNAIRE; PSYCHOLOGICAL-PROBLEMS;
PSYCHIATRIC-DISORDERS; BEHAVIORAL-PROBLEMS; PEER PROBLEMS; POPULATION;
HEMIPLEGIA; ILLNESS; ADHD
AB Purpose: To explore autism spectrum symptoms in children with cerebral palsy (CP), and the association between autism spectrum symptoms and medical and psychiatric comorbidity.
Methodology: Parents of children with CP in a Norwegian population were interviewed with a child psychiatric diagnostic instrument, and completed the Autism Spectrum Screening Questionnaire (ASSQ). Medical and socio-demographic data were obtained. ASSQ mean scores were compared to the Bergen Child Study (BCS), both to healthy controls and to subgroups of children with chronic illness in general, and neurological disorders specifically.
Results: Interviews and data collection were completed for 47 children, of whom 30 were boys, most had spastic CP, and were less severely affected by CP. Large effect sizes were found when comparing ASSQ mean scores in children with CP to children with chronic illnesses and normal controls. One in five children was ASSQ high scorers defined as a score above the 98th percentile of normal controls. A high rate of co-occurring psychiatric disorders, mainly AD/HD, was found in ASSQ high scorers.
Conclusions: More attention should be given to autism spectrum symptoms in the regular follow-up of children with CP in an attempt to enhance social functioning. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Bjorgaas, H. M.] Stavanger Univ Hosp, Stavanger HF, Dept Pediat Habilitat, N-4068 Stavanger, Norway.
[Bjorgaas, H. M.; Elgen, I.] Univ Bergen, Dept Clin Med, N-5020 Bergen, Norway.
[Elgen, I.] Haukeland Hosp, Dept Pediat, Child Habilitat Unit, N-5021 Bergen, Norway.
[Ryland, H. K.] Haukeland Hosp, Dept Pediat Habilitat, N-5021 Bergen, Norway.
[Hysing, M.] Uni Res, Uni Hlth, Reg Ctr Child & Youth Mental Hlth & Child Welf, Bergen, Norway.
RP Bjorgaas, HM (reprint author), Stavanger Univ Hosp, Osterlide Barnehabilitering, Stavanger HF, POB 8100, N-4068 Stavanger, Norway.
EM hanne.bjorgaas@lyse.net
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NR 31
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2014
VL 8
IS 5
BP 581
EP 588
DI 10.1016/j.rasd.2014.01.011
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AG0LO
UT WOS:000335107200012
ER
PT J
AU Siller, M
Swanson, MR
Serlin, G
Teachworth, AG
AF Siller, Michael
Swanson, Meghan R.
Serlin, Gayle
Teachworth, Ann G.
TI Internal state language in the storybook narratives of children with and
without autism spectrum disorder: Investigating relations to theory of
mind abilities
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Narrative; Internal state language; Theory of
mind
ID DIAGNOSTIC OBSERVATION SCHEDULE; HIGH-FUNCTIONING CHILDREN; BELIEFS;
ADULTS; COMPREHENSION; CHARACTERS; MEMORIES; DEFICITS; STORIES
AB The current study examines narratives elicited using a wordless picture book, focusing on language used to describe the characters' thoughts and emotions (i.e., internal state language, ISL). The sample includes 21 children with autism spectrum disorder (ASD) and 24 typically developing controls, matched on children's gender, IQ as well as receptive and expressive vocabulary. This research had three major findings. First, despite equivalent performance on standardized language assessments, the volume of children's narratives (i.e., the number of utterances and words, the range of unique verbs and adjectives) was lower in children with ASD than in typically developing controls. Second, after controlling for narrative volume, the narratives of children with ASD were less likely to reference the characters' emotions than was the case for typically developing controls. Finally, our results revealed a specific association between children's use of emotion terms and their performance on a battery of experimental tasks evaluating children's Theory of Mind abilities. Implications for our understanding of narrative deficits in ASD as well as interventions that use narrative as a context for improving social comprehension are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Siller, Michael; Swanson, Meghan R.; Serlin, Gayle] CUNY, Grad Ctr, New York, NY 10016 USA.
[Siller, Michael; Swanson, Meghan R.; Serlin, Gayle; Teachworth, Ann G.] CUNY Hunter Coll, New York, NY 10065 USA.
RP Siller, M (reprint author), CUNY Hunter Coll, Dept Psychol Hunter, 695 Pk Ave,North 611, New York, NY 10065 USA.
EM msiller@hunter.cuny.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 45
TC 3
Z9 3
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAY
PY 2014
VL 8
IS 5
BP 589
EP 596
DI 10.1016/j.rasd.2014.02.002
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AG0LO
UT WOS:000335107200013
ER
PT J
AU Matson, JL
Cervantes, PE
AF Matson, Johnny L.
Cervantes, Paige E.
TI Commonly studied comorbid psychopathologies among persons with autism
spectrum disorder
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Review
DE Autism; Comorbidity; Psychopathology; ADHD; Intellectual disability
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; PERVASIVE DEVELOPMENTAL
DISORDER; DEFICIT HYPERACTIVITY DISORDER; INTELLECTUALLY DISABLED
ADULTS; OPPOSITIONAL DEFIANT DISORDER; HIGH-FUNCTIONING AUTISM; CHILDREN
ASD-CC; II DASH-II; PSYCHIATRIC-DISORDERS; ASPERGERS-DISORDER
AB The study of comorbid psychopathology among persons with autism spectrum disorder (ASD) is picking up steam. The purpose of this paper was to review and describe important characteristics of existing studies. Among the current crop of papers, depression, anxiety, and attention-deficit/hyperactivity disorder (ADHD) have been frequently evaluated. Groups studied have most frequently been children. Persons with ASD and normal intelligence quotient (IQ) scores have been studied more often than individuals with ASD and intellectual disability. Additional characteristics are discussed, and the implications of these data for future developments in the field are reviewed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Matson, Johnny L.; Cervantes, Paige E.] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
RP Cervantes, PE (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM pcerva2@lsu.edu
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NR 97
TC 4
Z9 4
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD MAY
PY 2014
VL 35
IS 5
BP 952
EP 962
DI 10.1016/j.ridd.2014.02.012
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AF1MU
UT WOS:000334478800003
PM 24629541
ER
PT J
AU Cederlund, M
Miniscalco, C
Gillberg, C
AF Cederlund, Mats
Miniscalco, Carmela
Gillberg, Christopher
TI Pre-schoolchildren with autism spectrum disorders are rarely
macrocephalic: A population study
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Preschool children; ASD; Macrocephaly; Population study
ID HEAD CIRCUMFERENCE; ASPERGER-SYNDROME; BRAIN OVERGROWTH; BIRTH-WEIGHT;
BODY LENGTH; 1ST YEAR; LIFE; GROWTH; CHILDREN; PROGRAM
AB Numerous clinical studies over the past decades have concluded that there is an association between autism spectrum disorders (ASD) and large head size. Lately, some studies have reported conflicting results. The present study was conducted with a view to assess the presence of macrocephaly in a community-representative group of pre-school children with ASD. The prevalence of ASD in this general population was 0.8%.
Thirty-three children (5 girls, 28 boys) recruited after general population screening for ASD, and diagnosed with ASD (two-thirds not globally delayed) were assessed as regards growth parameters; height, weight, and head circumference (HC), at birth and at comprehensive medical-psychiatric diagnostic examinations at a mean age of 3 years. Macrocephaly in the present study was defined as HC above the 97th percentile, and >= 2 SD above recorded length/height. Only one of the 33 children (3%) had macrocephaly which is similar to the general population prevalence. Another 9% had a big but proportional head. None of the children were microcephalic. In this community-based study we found no evidence to support a strong link between a large head size and ASD. Conclusions must be guarded because of the relatively small number of ASD cases included. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Cederlund, Mats; Miniscalco, Carmela; Gillberg, Christopher] Univ Gothenburg, Sahlgrenska Acad, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden.
RP Gillberg, C (reprint author), Gillberg Neuropsychiat Ctr, Kungsgatan 12, S-41119 Gothenburg, Sweden.
EM christopher.gillberg@gnc.gu.se
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NR 36
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD MAY
PY 2014
VL 35
IS 5
BP 992
EP 998
DI 10.1016/j.ridd.2014.02.006
PG 7
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AF1MU
UT WOS:000334478800007
PM 24629539
ER
PT J
AU Franco, F
Itakura, S
Pomorska, K
Abramowski, A
Nikaido, K
Dimitriou, D
AF Franco, Fabia
Itakura, Shoji
Pomorska, Krystyna
Abramowski, Anna
Nikaido, Kozue
Dimitriou, Dagmara
TI Can children with autism read emotions from the eyes? The Eyes Test
revisited
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE ASD; Emotion recognition; Eye-test; Developmental disorders; Theory of
mind (TOM)
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; FACIAL EXPRESSIONS; SPECTRUM
DISORDER; WILLIAMS-SYNDROME; SOCIAL COGNITION; MIND DEVELOPMENT; CROWD
EVIDENCE; MENTAL STATES; FALSE BELIEF
AB This study aimed to test two new, simplified tasks related to the eye-test, targeting children with autism spectrum disorder (ASD) and typically developing controls (TD). Test-I assessed the recognition of emotion/mental states with displays using one word and two eye-pictures, whereas Test-2 presented displays using two words and one eye-picture. Black and white photographs of children were used as materials. A cross-cultural study (Caucasian/East-Asian) with adults was initially carried out to verify generalizability across different ethnic groups. Cross-sectional trajectory analyses were used to compare emotion recognition from the eyes in the two tests. Trajectories were constructed linking performance on both tests either to chronological age or to different measures of mental age (receptive vocabulary based on the BPVS, CARS or ASQ for the ASD group). Performance improved with chronological age in both the ASD and TD groups of children. However, performance in Test-I was significantly superior in children with ASD, who showed delayed onset and slower rate of improvement than TO children in Test-2. In both the ASD and TO groups the lowest error rate was recorded for the item 'anger', suggesting that threat-detection cue mechanisms may be intact in autism. In general, all children showed good performance on our novel tests, thus making them good candidates for assessing younger children and those with lower general abilities. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Franco, Fabia; Nikaido, Kozue] Middlesex Univ, Sch Hlth & Educ, Dept Psychol, London NW4 4BT, England.
[Itakura, Shoji] Kyoto Univ, Dept Psychol, Kyoto 6068501, Japan.
[Pomorska, Krystyna] Univ Social Sci & Humanities, Warsaw, Poland.
[Abramowski, Anna] City Univ London, London, England.
[Dimitriou, Dagmara] Univ London, Inst Educ, Dept Psychol & Human Dev, London WC1N 1AZ, England.
RP Franco, F (reprint author), Middlesex Univ, Sch Hlth & Educ, Dept Psychol, Town Hall, London NW4 4BT, England.
EM f.franco@mdx.ac.uk
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NR 68
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD MAY
PY 2014
VL 35
IS 5
BP 1015
EP 1026
DI 10.1016/j.ridd.2014.01.037
PG 12
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AF1MU
UT WOS:000334478800009
PM 24636022
ER
PT J
AU Thurman, AJ
McDuffie, A
Hagerman, R
Abbeduto, L
AF Thurman, Angela John
McDuffie, Andrea
Hagerman, Randi
Abbeduto, Leonard
TI Psychiatric symptoms in boys with fragile X syndrome: A comparison with
nonsyndromic autism spectrum disorder
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Fragile X syndrome; Autism spectrum disorder; Anxiety; Hyperactivity;
Social avoidance; Psychiatric symptoms
ID DEVELOPMENTAL DISORDERS; BEHAVIORAL-PHENOTYPE; PRESCHOOL-CHILDREN;
ATTENTION; HYPERACTIVITY; INDIVIDUALS; MINOCYCLINE; DIAGNOSIS; ANXIETY;
MALES
AB In the present study, we examined the profile of psychiatric symptoms in boys with fragile X syndrome (FXS) using a parent report instrument. In addition, by comparing boys with FXS to boys with nonsyndromic autism spectrum disorder (ASD) utilizing multiple matching strategies, we examined between-group differences in the types of psychiatric symptoms observed and in the strength of their concurrent associations. Across all matching strategies, symptoms of manic/hyperactive behaviors and general anxiety were more frequently reported for boys with FXS than for boys with nonsyndromic ASD. Results also indicated a positive association between social avoidance and general anxiety in FXS that was stronger than that observed in nonsyndromic ASD across all matching strategies. Theoretical and treatment implications are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Thurman, Angela John; McDuffie, Andrea; Hagerman, Randi; Abbeduto, Leonard] Univ Calif Davis, MIND Inst, Davis, CA 95616 USA.
[Thurman, Angela John; McDuffie, Andrea; Abbeduto, Leonard] Univ Calif Davis, Dept Psychiat & Behav Sci, Davis, CA 95616 USA.
[Hagerman, Randi] Univ Calif Davis, Dept Pediat, Davis, CA 95616 USA.
RP Thurman, AJ (reprint author), Univ Calif Davis, Dept Psychiat & Behav Sci, MIND Inst, 2825 50th St,Room 2101, Sacramento, CA 95817 USA.
EM angela.thurman@ucdmc.ucdavis.edu
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NR 67
TC 7
Z9 9
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD MAY
PY 2014
VL 35
IS 5
BP 1072
EP 1086
DI 10.1016/j.ridd.2014.01.032
PG 15
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AF1MU
UT WOS:000334478800014
PM 24629733
ER
PT J
AU Hao, G
Layton, TL
Zou, XB
Li, DY
AF Hao, Grace
Layton, Thomas L.
Zou, Xiao-Bing
Li, Dong-Yun
TI Evaluating autism in a Chinese population: the Clinical Autism
Diagnostic Scale
SO WORLD JOURNAL OF PEDIATRICS
LA English
DT Article
DE autism spectrum disorders; diagnosis; rating scale
AB Background: The purpose of this study was to report on the psychometric measures and discriminatory function of a new diagnostic test for autism spectrum disorders, the Clinical Autism Diagnostic Scale (CADS).
Methods: The CADS was used to test 216 children in the study, including 86 with low-functioning autism specturm disorders (ASD), 16 children with high-functioning ASD, 16 with pervasive developmental disorder, not otherwise specified, 7 with Asperger syndrome, 65 with typical development, 11 children with language impairments and 15 with intellectual disabilities. Ages ranged from 38-73 months. Behaviors for the groups were compared across seven domains.
Results: The results indicated the instrument was reliable, valid, and successfully differentiated the different groups of children with and without autism. All ASD groups were found to display difficulties in the domains of sensory behaviors and stereotyped behaviors. The play and social domains were found to measure similar underlying concepts of behaviors, while the receptive language and expressive language domains were also found to measure similar underlying-language concepts. The group of children diagnosed as having low-functioning autism performed less well on all tested domains in the instrument than did the other three groups of children with ASD, and these other three groups each also presented unique patterns of behaviors and differed on individual domains.
Conclusions: CADS is a reliable and valid test. It successfully differentiates the abilities of children with ASD at different levels of functioning.
C1 [Hao, Grace] N Carolina Cent Univ, Dept Allied Profess, Durham, NC 27707 USA.
[Layton, Thomas L.] T&T Commun Serv Inc, Durham, NC 27713 USA.
[Zou, Xiao-Bing; Li, Dong-Yun] Sun Yet Sen Univ, Affiliated Hosp 3, Children Dev & Behav Ctr, Guangzhou 510630, Guangdong, Peoples R China.
RP Hao, G (reprint author), N Carolina Cent Univ, Dept Allied Profess, 710 Cecil St, Durham, NC 27707 USA.
EM jhao@nccu.edu
CR Centeno J, 2003, ELL COMPANION REDUCI, P171
Huang AX, 2013, J AUTISM DEV DISORD, V43, P1991, DOI 10.1007/s10803-012-1722-6
Layton T, 2013, CLIN AUTISM DIAGNOST
Le Couteur A., 2003, AUTISM DIAGNOSTIC IN
Schopler E., 2005, PSYCHOEDUCATIONAL PR
Van de Vijver F, 1996, EUR PSYCHOL, V1, P89, DOI 10.1027/1016-9040.1.2.89
NR 6
TC 0
Z9 0
PU ZHEJIANG UNIV SCH MEDICINE
PI HANGZHOU
PA CHILDRENS HOSPITAL, 57 ZHUGAN XIANG, HANGZHOU, 310003, PEOPLES R CHINA
SN 1708-8569
EI 1867-0687
J9 WORLD J PEDIATR
JI World Journal of Pediatrics
PD MAY
PY 2014
VL 10
IS 2
BP 160
EP 163
DI 10.1007/s12519-014-0466-0
PG 4
WC Pediatrics
SC Pediatrics
GA AG4CT
UT WOS:000335367600011
PM 24599613
ER
PT J
AU Preller, KH
Hulka, LM
Vonmoos, M
Jenni, D
Baumgartner, MR
Seifritz, E
Dziobek, I
Quednow, BB
AF Preller, Katrin H.
Hulka, Lea M.
Vonmoos, Matthias
Jenni, Daniela
Baumgartner, Markus R.
Seifritz, Erich
Dziobek, Isabel
Quednow, Boris B.
TI Impaired emotional empathy and related social network deficits in
cocaine users
SO ADDICTION BIOLOGY
LA English
DT Article
DE social network; Cocaine; theory of mind; empathy; criminal behavior;
mentalizing
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; HIGH-FUNCTIONING AUTISM;
ASPERGER-SYNDROME; DRUG-USE; ADOLESCENT ALCOHOL; IMPULSE CONTROL;
DEPENDENCE; MIND; ADULTS; QUESTIONNAIRE
AB Chronic cocaine users consistently display neurochemical and functional alterations in brain areas involved in social cognition (e.g. medial and orbitofrontal cortex). Although social functioning plays a crucial role in the development and treatment of drug dependence, studies investigating social cognition in cocaine users are lacking. Therefore, we investigated mental perspective taking ('theory of mind') and emotional and cognitive empathy in recreational (RCU) and dependent (DCU) cocaine users. Furthermore, we related these measures to real-life indicators of social functioning. One-hundred cocaine users (69 RCU, 31 DCU) and 68 stimulant-naive healthy controls were tested with the Multifaceted Empathy Test (MET), Movie for the Assessment of Social Cognition (MASC) and Reading the Mind in the Eyes Test (RMET). The Social Network Questionnaire was conducted to assess social network size. Furthermore, participants provided information on committed criminal offenses. RCU and DCU showed less emotional empathy compared to controls (MET), whereas cognitive empathy was not impaired (MET, RMET). Additionally, DCU made more errors in mental perspective taking (MASC). Notably, cocaine users committed more criminal offenses and displayed a smaller social network and higher cocaine use was correlated with less social contacts. Diminished mental perspective taking was tentatively correlated with more intense cocaine use as well. Finally, younger age of onset of cocaine use was associated with more pronounced empathy impairment. In conclusion, social cognition impairments in cocaine users were related to real-life social functioning and should therefore be considered in therapy and prevention strategies.
C1 [Preller, Katrin H.; Hulka, Lea M.; Vonmoos, Matthias; Jenni, Daniela; Seifritz, Erich; Quednow, Boris B.] Univ Hosp Psychiat, Dept Psychiat Psychotherapy & Psychosomat, CH-8032 Zurich, Switzerland.
[Baumgartner, Markus R.] Univ Zurich, Ctr Forens Hairanalyt, Inst Forens Med, CH-8006 Zurich, Switzerland.
[Dziobek, Isabel] Free Univ Berlin, Cluster Languages Emot, Berlin, Germany.
[Quednow, Boris B.] Univ Zurich, Zurich Ctr Integrat Human Physiol, CH-8006 Zurich, Switzerland.
RP Quednow, BB (reprint author), Univ Hosp Psychiat, Lenggstr 31, CH-8032 Zurich, Switzerland.
EM preller@bli.uzh.ch; quednow@bli.uzh.ch
RI Quednow, Boris/A-1666-2008
OI Quednow, Boris/0000-0001-7933-2865
FU Swiss National Science Foundation (SNSF) [PP00P1-123516, PP00P1_146326];
Olga Mayenfisch Foundation
FX This work was supported by grants from the Swiss National Science
Foundation (SNSF; PP00P1-123516 and PP00P1_146326) and the Olga
Mayenfisch Foundation. Experimental design, data acquisition,
statistical analyses and interpretation of the results were conducted
without input from any pharmaceutical company or any other funding
source.
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NR 64
TC 5
Z9 5
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1369-1600
J9 ADDICT BIOL
JI Addict. Biol.
PD MAY
PY 2014
VL 19
IS 3
BP 452
EP 466
DI 10.1111/adb.12070
PG 15
WC Biochemistry & Molecular Biology; Substance Abuse
SC Biochemistry & Molecular Biology; Substance Abuse
GA AF3FS
UT WOS:000334597500014
PM 23800218
ER
PT J
AU Al-Kateb, H
Khanna, G
Filges, I
Hauser, N
Grange, DK
Shen, J
Smyser, CD
Kulkarni, S
Shinawi, M
AF Al-Kateb, Hussam
Khanna, Geetika
Filges, Isabel
Hauser, Natalie
Grange, Dorothy K.
Shen, Joseph
Smyser, Christopher D.
Kulkarni, Shashikant
Shinawi, Marwan
TI Scoliosis and Vertebral Anomalies: Additional Abnormal Phenotypes
Associated with Chromosome 16p11.2 Rearrangement
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 16p11; 2 rearrangement; scoliosis; vertebral anomalies; deletion;
duplication; phenotype
ID ADOLESCENT IDIOPATHIC SCOLIOSIS; CANDIDATE REGIONS; LOCUS;
SUSCEPTIBILITY; GENES; IDENTIFICATION; MICRODELETION; DISORDERS; DOSAGE;
AUTISM
AB The typical chromosome 16p11.2 rearrangements are estimated to occur at a frequency of approximately 0.6% of all samples tested clinically and have been identified as a major cause of autism spectrum disorders, developmental delay, behavioral abnormalities, and seizures. Careful examination of patients with these rearrangements revealed association with abnormal head size, obesity, dysmorphism, and congenital abnormalities. In this report, we extend this list of phenotypic abnormalities to include scoliosis and vertebral anomalies. We present detailed characterization of phenotypic and radiological data of 10 new patients, nine with the 16p11.2 deletion and one with the duplication within the coordinates chr16:29,366,195 and 30,306,956 (hg19) with a minimal size of 555kb. We discuss the phenotypical and radiological findings in our patients and review 5 previously reported patients with 16p11.2 rearrangement and similar skeletal abnormalities. Our data suggest that patients with the recurrent 16p11.2 rearrangement have increased incidence of scoliosis and vertebral anomalies. However, additional studies are required to confirm this observation and to establish the incidence of these anomalies. We discuss the potential implications of our findings on the diagnosis, surveillance and genetic counseling of patients with 16p11.2 rearrangement. (c) 2014 Wiley Periodicals, Inc.
C1 [Al-Kateb, Hussam; Kulkarni, Shashikant] Washington Univ, Sch Med, Dept Pathol & Immunol, St Louis, MO 63110 USA.
[Khanna, Geetika] Washington Univ, Sch Med, Dept Radiol, St Louis, MO 63110 USA.
[Filges, Isabel] Univ British Columbia, Dept Med Genet, Childrens & Womens Hosp, Vancouver, BC, Canada.
[Hauser, Natalie; Shen, Joseph] Childrens Hosp Cent Calif, Dept Med Genet & Metab, Madera, CA USA.
[Grange, Dorothy K.; Shinawi, Marwan] Washington Univ, Sch Med, Dept Pediat Genet & Genom Med, St Louis, MO 63110 USA.
[Smyser, Christopher D.] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA.
[Smyser, Christopher D.] Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA.
RP Shinawi, M (reprint author), Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, One Childrens Pl,Northwest Tower, St Louis, MO 63110 USA.
EM Shinawi_M@kids.wustl.edu
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NR 31
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD MAY
PY 2014
VL 164
IS 5
BP 1118
EP 1126
DI 10.1002/ajmg.a.36401
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA AE8YZ
UT WOS:000334290300005
PM 24458548
ER
PT J
AU Talisa, VB
Boyle, L
Crafa, D
Kaufmann, WE
AF Talisa, Victor B.
Boyle, Lia
Crafa, Daina
Kaufmann, Walter E.
TI Autism and Anxiety in Males with Fragile X Syndrome: An Exploratory
Analysis of Neurobehavioral Profiles from a Parent Survey
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE fragile X; autism; anxiety; survey
ID SELF-INJURIOUS-BEHAVIOR; SPECTRUM DISORDER; CHILDREN; PREVALENCE;
PHENOTYPE; SYMPTOMS; BOYS
AB Although it is suspected that anxiety modifies the clinical presentation of autism in fragile X syndrome (FXS), neuropsychiatric co-morbidity profiles of these two disorders have not been extensively studied. The National Fragile X Survey was completed for 1,027 males with FXS, for whom yes/no information regarding the presence of several disorders is provided. Although the survey exhibited limited depth and lacked validation by standardized measures, this exploratory study was conducted to take advantage of the data as an opportunity for identifying future lines of inquiry. We addressed the following questions: (i) how do the co-morbidity profiles of FXS males with both autism and anxiety compare to those without anxiety?; (ii) do individuals with autism exhibit specific co-morbidity profiles compared to FXS males with anxiety only, or without either autism or anxiety?; (iii) how do co-morbidity profiles in children ages 3-11 differ from profiles of individuals >12 years? The group with autism and anxiety reported the highest prevalence of attention problems, hyperactivity/impulsivity, self-injurious behavior and aggressiveness. In addition, the lowest prevalence rates of these conditions were often observed in non-anxious groups regardless of autism status. Overall, this exploratory analysis generated several hypotheses for further study: (i) anxiety increases the severity of autism in FXS, particularly through additional behavioral abnormalities; (ii) some neuropsychiatric and behavioral conditions (i.e., attention problems, hyperactivity/impulsivity, aggressiveness) are primarily related to comorbid anxiety, not autism; (iii) prevalence of behavioral abnormalities increases with age. Future studies evaluating these hypotheses should incorporate validated neurobehavioral assessments, and control for cognitive level. (c) 2014 Wiley Periodicals, Inc.
C1 [Talisa, Victor B.; Boyle, Lia; Crafa, Daina; Kaufmann, Walter E.] Kennedy Krieger Inst, Ctr Genet Disorders Cognit & Behav, Baltimore, MD USA.
[Talisa, Victor B.; Boyle, Lia; Crafa, Daina; Kaufmann, Walter E.] Johns Hopkins Univ, Sch Med, Baltimore, MD USA.
[Kaufmann, Walter E.] Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.
[Kaufmann, Walter E.] Harvard Univ, Sch Med, Boston, MA USA.
RP Kaufmann, WE (reprint author), Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USA.
EM walter.kaufmann@childrens.harvard.edu
FU Centers for Disease Control and Prevention (CDC); Association for
Prevention Teaching and Research (APTR) [U50/CCU300860, TS-1380]; NIH
[HD 24061]
FX Grant sponsor: Centers for Disease Control and Prevention (CDC) and the
Association for Prevention Teaching and Research (APTR) Cooperative
Agreement; Grant number: U50/CCU300860, Project TS-1380; Grant sponsor:
NIH; Grant number: HD 24061.
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TRANEBAERG L, 1991, COMPR PSYCHIAT, V32, P83, DOI 10.1016/0010-440X(91)90073-L
NR 28
TC 4
Z9 4
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD MAY
PY 2014
VL 164
IS 5
BP 1198
EP 1203
DI 10.1002/ajmg.a.36468
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA AE8YZ
UT WOS:000334290300017
PM 24664669
ER
PT J
AU Bartholdi, D
Stray-Pedersen, A
Azzarello-Burri, S
Kibaek, M
Kirchhoff, M
Oneda, B
Rodningen, O
Schmitt-Mechelke, T
Rauch, A
Kjaergaard, S
AF Bartholdi, Deborah
Stray-Pedersen, Asbjorg
Azzarello-Burri, Silvia
Kibaek, Maria
Kirchhoff, Maria
Oneda, Beatrice
Rodningen, Olaug
Schmitt-Mechelke, Thomas
Rauch, Anita
Kjaergaard, Susanne
TI A Newly Recognized 13q12.3 Microdeletion Syndrome Characterized by
Intellectual Disability, Microcephaly, and Eczema/Atopic Dermatitis
Encompassing the HMGB1 and KATNAL1 Genes
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE microdeletion 13q12; 3; KATNAL1; HMGB1; intellectual disability;
microarray analysis
ID PETERS PLUS SYNDROME; DE-NOVO MUTATIONS; DELETION; KATANIN;
MICROTUBULES; PHENOTYPE; ANOMALIES; PATIENT; AUTISM
AB Proximal deletions of the long arm of chromosome 13 have been reported only rarely. Here we present three unrelated patients with heterozygous, apparently de novo deletions encompassing 13q12.3. The patients present with moderate demonstrated or apparent intellectual disability, postnatal microcephaly, and eczema/atopic dermatitis as the predominant symptoms. In addition, they had pronounced feeding difficulties in early infancy. They displayed similar facial features such as malar flattening, a prominent nose with underdeveloped alae nasi, a smooth philtrum, and a thin vermillion of the upper lip. The proximal and distal breakpoints were clustered and the deletions spanned from 1.4 to 1.7Mb, comprising at least 11 RefSeq genes. However, heterozygous deletions partially overlapping those observed in the present patients have been described in healthy parents of patients with Peters-Plus syndrome, an autosomal recessive disorder caused by inactivation of the B3GALTL gene. We therefore propose that the critical region of the 13q12.3 microdeletion syndrome contains only three genes, namely, KATNAL1, HMGB1, and LINC00426, a non-protein coding RNA. The KATNAL1 protein belongs to a family of microtubule severing enzymes that have been implicated in CNS plasticity in experimental models, but little is known about its function in humans. The HMGB1 protein is an evolutionarily conserved chromatin-associated protein involved in many biologically important processes. In summary, we propose that microdeletion 13q12.3 represents a novel clinically recognizable condition and that the microtubule severing gene KATNAL1 and the chromatin-associated gene HMGB1 are candidate genes for intellectual disability inherited in an autosomal dominant pattern. (c) 2014 Wiley Periodicals, Inc.
C1 [Bartholdi, Deborah; Azzarello-Burri, Silvia; Oneda, Beatrice; Rauch, Anita] Univ Zurich, Inst Med Genet, Zurich, Switzerland.
[Stray-Pedersen, Asbjorg; Rodningen, Olaug] Oslo Univ Hosp, Dept Med Genet, Oslo, Norway.
[Stray-Pedersen, Asbjorg] Baylor Coll Med, Houston, TX 77030 USA.
[Kibaek, Maria] Odense Univ Hosp, Dept Pediat, DK-5000 Odense, Denmark.
[Kirchhoff, Maria; Kjaergaard, Susanne] Rigshosp, Dept Clin Genet, Univ Hosp Copenhagen, DK-2100 Copenhagen, Denmark.
[Schmitt-Mechelke, Thomas] Childrens Hosp, Luzern, Switzerland.
RP Bartholdi, D (reprint author), Klinikum Stuttgart, Inst Clin Genet, Bismarckstr 3, D-70176 Stuttgart, Germany.
EM deborah.bartholdi@usb.ch
RI Rauch, Anita/C-5568-2014
OI Rauch, Anita/0000-0003-2930-3163
FU Swiss National Science Foundation [SNF 320030_135669]
FX Grant sponsor: Swiss National Science Foundation; Grant number: SNF
320030_135669.
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Vissers LELM, 2010, J MED GENET, V47, P289, DOI 10.1136/jmg.2009.072942
Yu WQ, 2005, J NEUROSCI, V25, P5573, DOI 10.1523/JNEUROSCI.0834-05.2005
NR 20
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD MAY
PY 2014
VL 164
IS 5
BP 1277
EP 1283
DI 10.1002/ajmg.a.36439
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AE8YZ
UT WOS:000334290300031
PM 24664804
ER
PT J
AU Grynszpan, O
Weiss, PL
Perez-Diaz, F
Gal, E
AF Grynszpan, Ouriel
Weiss, Patrice L. (Tamar)
Perez-Diaz, Fernando
Gal, Eynat
TI Innovative technology- based interventions for autism spectrum
disorders: A meta- analysis
SO AUTISM
LA English
DT Article
DE autism spectrum disorders; computer; innovative technology;
meta-analysis; remediation; robotics; systematic review; training;
virtual reality
ID COMPUTER-ASSISTED-INSTRUCTION; HIGH-FUNCTIONING AUTISM; COMPLEX EMOTION
RECOGNITION; ASPERGER-SYNDROME; VIRTUAL-REALITY; SOCIAL-SKILLS;
INTERACTIVE MULTIMEDIA; COMMUNICATION-SKILLS; ANIMATED TUTOR; CHILDREN
AB This article reports the results of a meta-analysis of technology-based intervention studies for children with autism spectrum disorders. We conducted a systematic review of research that used a pre-post design to assess innovative technology interventions, including computer programs, virtual reality, and robotics. The selected studies provided interventions via a desktop computer, interactive DVD, shared active surface, and virtual reality. None employed robotics. The results provide evidence for the overall effectiveness of technology-based training. The overall mean effect size for posttests of controlled studies of children with autism spectrum disorders who received technology-based interventions was significantly different from zero and approached the medium magnitude, d = 0.47 (confidence interval: 0.08-0.86). The influence of age and IQ was not significant. Differences in training procedures are discussed in the light of the negative correlation that was found between the intervention durations and the studies' effect sizes. The results of this meta-analysis provide support for the continuing development, evaluation, and clinical usage of technology-based intervention for individuals with autism spectrum disorders.
C1 [Grynszpan, Ouriel] Univ Paris 06, F-75252 Paris 05, France.
[Grynszpan, Ouriel; Perez-Diaz, Fernando] CNRS, USR 3246, F-75700 Paris, France.
[Weiss, Patrice L. (Tamar); Gal, Eynat] Univ Haifa, IL-31999 Haifa, Israel.
RP Grynszpan, O (reprint author), Hop La Pitie Salpetriere, CNRS, Ctr Emot, USR 3246, Pavillon Clerambault,47 Blvd Hop, F-75013 Paris, France.
EM ouriel.grynszpan@upmc.fr
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NR 97
TC 2
Z9 2
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2014
VL 18
IS 4
BP 346
EP 361
DI 10.1177/1362361313476767
PG 16
WC Psychology, Developmental
SC Psychology
GA AF0BU
UT WOS:000334377400001
PM 24092843
ER
PT J
AU White, SW
Smith, LA
Schry, AR
AF White, Susan W.
Smith, Laura A.
Schry, Amie R.
TI Assessment of global functioning in adolescents with autism spectrum
disorders: Utility of the Developmental Disability- Child Global
Assessment Scale
SO AUTISM
LA English
DT Article
DE adolescents; autism; global functioning; treatment
ID RANDOMIZED CONTROLLED-TRIAL; ANXIETY; INTERVENTION; INDIVIDUALS;
CHALLENGES; ISSUES
AB Assessment of global functioning is an important consideration in treatment outcome research; yet, there is little guidance on its evidence-based assessment for children with autism spectrum disorders. This study investigated the utility and validity of clinician-rated global functioning using the Developmental Disability-Child Global Assessment Scale in a sample of higher functioning adolescents with autism spectrum disorders and comorbid anxiety disorders enrolled in a randomized controlled trial (n = 30). Pretreatment Developmental Disability-Child Global Assessment Scale scores correlated with severity of autism spectrum disorders core symptoms (r = -.388, p = .034), pragmatic communication (r = .407, p = .032), and verbal ability (r = .449, p = .013) and did not correlate with severity of anxiety symptoms or with parent-reported adaptive behavior. Change in Developmental Disability-Child Global Assessment Scale scores during treatment was associated with autism spectrum disorders symptomatic improvement (r = .414, p = .040) and with improved general communication (r = .499, p = .013). Results support the importance of assessing global functioning in addition to symptom change and treatment response in clinical trials.
C1 [White, Susan W.; Smith, Laura A.; Schry, Amie R.] Virginia Tech, Blacksburg, VA 24061 USA.
RP White, SW (reprint author), Virginia Tech, Dept Psychol, 109 Williams Hall 0436, Blacksburg, VA 24061 USA.
EM sww@vt.edu
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NR 35
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2014
VL 18
IS 4
BP 362
EP 369
DI 10.1177/1362361313481287
PG 8
WC Psychology, Developmental
SC Psychology
GA AF0BU
UT WOS:000334377400002
PM 23965288
ER
PT J
AU Locke, J
Rotheram-Fuller, E
Xie, M
Harker, C
Mandell, D
AF Locke, Jill
Rotheram-Fuller, Erin
Xie, Ming
Harker, Colleen
Mandell, David
TI Correlation of cognitive and social outcomes among children with autism
spectrum disorder in a randomized trial of behavioral intervention
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; intervention; social deficits
ID SKILLS INTERVENTIONS
AB Although social impairments are considered the hallmark deficit of autism, many behavioral intervention studies rely on cognitive functioning as a primary outcome. Fewer studies have examined whether changes in cognition are associated with changes in social functioning. This study examined whether cognitive gains among 192 students from 47 kindergarten-through-second-grade autism support classrooms participating in a year-long behavioral intervention study were associated with gains in social functioning. Children's gains in cognitive ability were modestly associated with independent assessors' and teachers' evaluations of social functioning but were not associated with changes in parent ratings. Observed social gains were not commensurate with gains in cognition, suggesting the need both for interventions that directly target social functioning and relevant field measures of social functioning.
C1 [Locke, Jill; Xie, Ming; Mandell, David] Univ Penn, Philadelphia, PA 19104 USA.
[Rotheram-Fuller, Erin] Temple Univ, Philadelphia, PA 19122 USA.
[Harker, Colleen] Univ Washington, Seattle, WA 98195 USA.
RP Locke, J (reprint author), Univ Penn, 3535 Market St,3rd Floor, Philadelphia, PA 19104 USA.
EM jlocke@upenn.edu
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
CR Arick J., 2004, STAR PROGRAM STRATEG
Arick J. R., 2003, FOCUS AUTISM OTHER D, V18, P75, DOI [10.1177/108835760301800201, DOI 10.1177/108835760301800201]
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NR 27
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2014
VL 18
IS 4
BP 370
EP 375
DI 10.1177/1362361313479181
PG 6
WC Psychology, Developmental
SC Psychology
GA AF0BU
UT WOS:000334377400003
PM 24104511
ER
PT J
AU Must, A
Phillips, SM
Curtin, C
Anderson, SE
Maslin, M
Lividini, K
Bandini, LG
AF Must, Aviva
Phillips, Sarah M.
Curtin, Carol
Anderson, Sarah E.
Maslin, Melissa
Lividini, Keith
Bandini, Linda G.
TI Comparison of sedentary behaviors between children with autism spectrum
disorders and typically developing children
SO AUTISM
LA English
DT Article
DE autism spectrum disorders; body mass index; children; sedentary
behavior; television viewing
ID NUTRITION EXAMINATION SURVEY; PHYSICAL-ACTIVITY; SCREEN TIME;
NATIONAL-HEALTH; WEIGHT STATUS; US CHILDREN; MEDIA USE; ADOLESCENTS;
OBESITY; ADIPOSITY
AB Time spent in sedentary behavior is largely due to time spent engaged with electronic screen media. Little is known about the extent to which sedentary behaviors for children with autism spectrum disorder differ from typically developing children. We used parental report to assess and compare time spent in sedentary behaviors for 53 children with autism spectrum disorder and 58 typically developing children aged 3-11 years. We also determined how sedentary behavior was related to child weight status (body mass index z-score). Overall, children with autism spectrum disorder spent an hour more in sedentary behaviors on weekdays compared to typically developing children (5.2 vs 4.2 h, p = 0.03), and most of this difference was due to screen time. The age- and sex-adjusted estimate of weekday total daily screen time was 1.6 h (typically developing) compared to 2.5 h (autism spectrum disorder, p = 0.004 for difference). A significant relationship between BMI z-score and total sedentary behavior time on weekend days was observed among young children with ASD, but not among TD children. The modest association between weekend sedentary behaviour time and BMI z-score among children with ASD suggests that sedentary behaiour is linked to relative weight status in these children. Further research is needed to confirm these findings and identify causal pathways.
C1 [Must, Aviva; Phillips, Sarah M.] Tufts Univ, Sch Med, Boston, MA 02111 USA.
[Curtin, Carol; Maslin, Melissa; Bandini, Linda G.] Univ Massachusetts, Sch Med, Amherst, MA 01003 USA.
[Anderson, Sarah E.] Ohio State Univ, Columbus, OH 43210 USA.
[Lividini, Keith] HarvestPlus Int Food Policy Res Inst, Washington, DC USA.
RP Must, A (reprint author), Tufts Univ, Sch Med, Dept Publ Hlth & Community Med, 136 Harrison Ave, Boston, MA 02111 USA.
EM aviva.must@tufts.edu
CR Anderson SE, 2008, BMC PUBLIC HEALTH, V8, DOI 10.1186/1471-2458-8-366
Baggett CD, 2010, INT J OBESITY, V34, P1193, DOI 10.1038/ijo.2010.31
Bandini LG, 2013, AUTISM, V17, P44, DOI 10.1177/1362361312437416
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NR 38
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2014
VL 18
IS 4
BP 376
EP 384
DI 10.1177/1362361313479039
PG 9
WC Psychology, Developmental
SC Psychology
GA AF0BU
UT WOS:000334377400004
PM 24113339
ER
PT J
AU Wu, CC
Chiang, CH
AF Wu, Chin-Chin
Chiang, Chung-Hsin
TI The developmental sequence of socialcommunicative skills in young
children with autism: A longitudinal study
SO AUTISM
LA English
DT Article
DE autism; developmental sequence; social-communicative skills
ID JOINT ATTENTION; PRETEND PLAY; IMITATION; LANGUAGE; DISORDER
AB To explore the different developmental trajectories of social-communicative skills in children with autism and typically developing infants, two longitudinal studies were conducted. In Study 1, we examined the developmental sequence of social-communicative skills in 26 typically developing infants when they were 9 months old and reexamined them when they were 12 and 15 months old. The results indicated a reliable developmental sequence of social-communicative skills in infants with typical development. In Study 2, we explored the emergence sequence of social-communicative skills of 23 children with autism and 23 children with developmental delay between the ages of 2 and 4 years. The results demonstrated that the developmental sequence of social-communicative skills in young children with autism and children with developmental delays was different.
C1 [Wu, Chin-Chin] Kaohsiung Med Univ, Dept Psychol, Kaohsiung, Taiwan.
[Chiang, Chung-Hsin] Natl Chengchi Univ, Dept Psychol, Taipei 11605, Taiwan.
[Chiang, Chung-Hsin] Natl Chengchi Univ, Res Ctr Mind Brain & Learning, Taipei 11605, Taiwan.
RP Chiang, CH (reprint author), Natl Chengchi Univ, Dept Psychol, 64,Sec 2,ZhiNan Rd, Taipei 11605, Taiwan.
EM chchiang@nccu.edu.tw
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NR 31
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2014
VL 18
IS 4
BP 385
EP 392
DI 10.1177/1362361313479832
PG 8
WC Psychology, Developmental
SC Psychology
GA AF0BU
UT WOS:000334377400005
PM 23921662
ER
PT J
AU Wojcik, DZ
Waterman, AH
Lestie, C
Moulin, CJA
Souchay, C
AF Wojcik, Dominika Z.
Waterman, Amanda H.
Lestie, Claire
Moulin, Chris J. A.
Souchay, Celine
TI Metacognitive judgments- of- learning in adolescents with autism
spectrum disorder
SO AUTISM
LA English
DT Review
DE autism; judgment-of-learning; memory; metamemory
ID HIGH-FUNCTIONING AUTISM; STUDY-TIME ALLOCATION; ASPERGERS-SYNDROME;
AUTOBIOGRAPHICAL MEMORY; UNANSWERABLE QUESTIONS; ACCESSIBILITY MODEL;
CHILDRENS KNOWLEDGE; ALZHEIMERS-DISEASE; OLDER-ADULTS; FREE-RECALL
AB This study investigated metacognitive monitoring abilities in adolescents with autism spectrum disorder in two experiments using the judgment-of-learning paradigm. Participants were asked to predict their future recall of unrelated word pairs during the learning phase. Experiment 1 compared judgments-of-learning made immediately after learning and judgments-of-learning made after a delay. We found that both groups overestimated their memory performance but that overall there were no group differences in judgment-of-learning accuracy. Additionally, both groups displayed the standard delayed judgment-of-learning effect (yielding greater judgment accuracy in delayed compared to immediate judgments), suggesting that both groups were able to use appropriate information in making their judgments-of-learning. Experiment 2 assessed whether adolescents with autism spectrum disorder could regulate their study time according to their judgments-of-learning using a self-paced learning procedure. Results showed that both groups spent more time learning items given lower judgments-of-learning. Finally, Experiment 2 showed that judgments-of-learning and study time varied according to item difficulty in both groups. As a whole, these findings demonstrate that adolescents with autism spectrum disorder can accurately gauge their memory performance while learning new word associations and use these skills to control their study time at learning.
C1 [Wojcik, Dominika Z.] Univ Valladolid, E-47002 Valladolid, Spain.
[Waterman, Amanda H.] Univ Leeds, Leeds LS2 9JT, W Yorkshire, England.
[Lestie, Claire; Moulin, Chris J. A.; Souchay, Celine] Univ Bourgogne, LEAD UMR CNRS 5022, F-21065 Dijon, France.
RP Souchay, C (reprint author), Univ Bourgogne, LEAD CNRS UMR 5022, Pole AAFE, BP 26513, F-21065 Dijon, France.
EM celine.souchay@u-bourgogne.fr
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NR 106
TC 2
Z9 2
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2014
VL 18
IS 4
BP 393
EP 408
DI 10.1177/1362361313479453
PG 16
WC Psychology, Developmental
SC Psychology
GA AF0BU
UT WOS:000334377400006
PM 24151127
ER
PT J
AU Geurts, HM
de Wit, S
AF Geurts, Hilde M.
de Wit, Sanne
TI Goal- directed action control in children with autism spectrum disorders
SO AUTISM
LA English
DT Article
DE autism; goal-directed action; habit; response inhibition; working memory
ID OBSESSIVE-COMPULSIVE DISORDER; BEHAVIOR QUESTIONNAIRE CSBQ; REPETITIVE
BEHAVIORS; INHIBITORY CONTROL; PREFRONTAL CORTEX; COGNITIVE CONTROL;
BASAL GANGLIA; NEUROBIOLOGY; STRIATUM; SYMPTOMS
AB Repetitive behavior is a key characteristic of autism spectrum disorders. Our aim was to investigate the hypothesis that this abnormal behavioral repetition results from a tendency to over-rely on habits at the expense of flexible, goal-directed action. Twenty-four children with autism spectrum disorders and 24 age- and gender-matched controls (8-12 years) initially learned to give specific responses to different pictorial stimuli in order to gain valuable outcomes. Subsequently, in the slips-of-action test, some of these outcomes were no longer valuable. Children needed to refrain from responding when stimuli were shown that signaled the availability of those outcomes while continuing to respond for the still-valuable outcomes. Reliance on habits should lead to slips of action toward no longer valuable outcomes. Therefore, the children's ability to respond selectively for still-valuable outcomes provides a measure of relative habitual versus goal-directed control. Two additional tasks were included to control for general task characteristics (i.e. working memory and inhibition). Children with autism spectrum disorders learned equally well as controls and were not impaired at flexibly adjusting their behavior to devaluation of the outcomes or stimuli. We found no evidence for a disruption in the balance between goal-directed and habitual behavioral control in children with autism spectrum disorders.
C1 [Geurts, Hilde M.; de Wit, Sanne] Univ Amsterdam, Dept Psychol, NL-1018 XA Amsterdam, Netherlands.
[Geurts, Hilde M.; de Wit, Sanne] Univ Amsterdam, Cognit Sci Ctr Amsterdam, NL-1018 XA Amsterdam, Netherlands.
[Geurts, Hilde M.] Autism Clin, Oosterbeek, Netherlands.
[Geurts, Hilde M.] Dutch Autism & ADHD Res Ctr dArc, Amsterdam, Netherlands.
RP Geurts, HM (reprint author), Univ Amsterdam, Dept Brain & Cognit, Weesperpl 4, NL-1018 XA Amsterdam, Netherlands.
EM h.m.geurts@uva.nl
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NR 48
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2014
VL 18
IS 4
BP 409
EP 418
DI 10.1177/1362361313477919
PG 10
WC Psychology, Developmental
SC Psychology
GA AF0BU
UT WOS:000334377400007
PM 24072663
ER
PT J
AU Zablotsky, B
Bradshaw, CP
Anderson, CM
Law, P
AF Zablotsky, Benjamin
Bradshaw, Catherine P.
Anderson, Connie M.
Law, Paul
TI Risk factors for bullying among children with autism spectrum disorders
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; bullying; schools; special needs
ID LEARNING-DISABILITIES; PEER VICTIMIZATION; PSYCHOSOCIAL ADJUSTMENT;
PSYCHIATRIC-DISORDERS; ASPERGER-SYNDROME; MIDDLE SCHOOL; SELF-ESTEEM;
PREVALENCE; INCLUSION; STUDENTS
AB Although children with disabilities have been found to be at an increased risk of bullying, there are limited studies investigating predictors of bullying involvement in children with autism spectrum disorders. The current study presents findings from 1221 parents of children diagnosed with autism spectrum disorder who were selected from a national web-based registry. Parents completed a survey dedicated to the school and bullying experiences of their child, and multivariate logistic regression analyses were conducted to identify child and school risk factors for involvement as victim, bully, or bully-victim. Additional analyses examined the risk of bullying involvement based on the amount of time spent in general education classrooms. Children diagnosed with Asperger's disorder, attending a public school or a school with a general education population, were at the greatest risk of being victimized in the past month. Children with comorbid conditions and a high level of autistic traits were the most likely to be victims, bullies, and bully-victims. Finally, children in full inclusion classrooms were more likely to be victimized than those who spend the majority of their time in special education settings. Future research studies should be invested in finding appropriate supports for children with autism spectrum disorder placed in inclusive settings.
C1 [Zablotsky, Benjamin; Bradshaw, Catherine P.] Johns Hopkins Bloomberg Sch Publ Hlth, Baltimore, MD 21205 USA.
[Anderson, Connie M.] Towson Univ, Baltimore, MD USA.
[Law, Paul] Kennedy Krieger Inst, Baltimore, MD USA.
RP Zablotsky, B (reprint author), Johns Hopkins Bloomberg Sch Publ Hlth, Dept Mental Hlth, 624 North Broadway, Baltimore, MD 21205 USA.
EM bzablots@jhsph.edu
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NR 60
TC 2
Z9 2
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2014
VL 18
IS 4
BP 419
EP 427
DI 10.1177/1362361313477920
PG 9
WC Psychology, Developmental
SC Psychology
GA AF0BU
UT WOS:000334377400008
PM 23901152
ER
PT J
AU Tavassoli, T
Miller, LJ
Schoen, SA
Nielsen, DM
Baron-Cohen, S
AF Tavassoli, Teresa
Miller, Lucy J.
Schoen, Sarah A.
Nielsen, Darci M.
Baron-Cohen, Simon
TI Sensory over- responsivity in adults with autism spectrum conditions
SO AUTISM
LA English
DT Article
DE autism spectrum conditions; autistic traits; Sensory Over-Responsivity
Scale
ID QUOTIENT AQ; CHILDRENS VERSION; OVER-RESPONSIVITY; ASPERGER-SYNDROME;
DISORDERS; PROFILE; PATTERNS; MODULATION; VALIDITY
AB Anecdotal reports and empirical evidence suggest that sensory processing issues are a key feature of autism spectrum conditions. This study set out to investigate whether adults with autism spectrum conditions report more sensory over-responsivity than adults without autism spectrum conditions. Another goal of the study was to identify whether autistic traits in adults with and without autism spectrum conditions were associated with sensory over-responsivity. Adults with (n = 221) and without (n = 181) autism spectrum conditions participated in an online survey. The Autism Spectrum Quotient, the Raven Matrices and the Sensory Processing Scale were used to characterize the sample. Adults with autism spectrum conditions reported more sensory over-responsivity than control participants across various sensory domains (visual, auditory, tactile, olfactory, gustatory and proprioceptive). Sensory over-responsivity correlated positively with autistic traits (Autism Spectrum Quotient) at a significant level across groups and within groups. Adults with autism spectrum conditions experience sensory over-responsivity to daily sensory stimuli to a high degree. A positive relationship exists between sensory over-responsivity and autistic traits. Understanding sensory over-responsivity and ways of measuring it in adults with autism spectrum conditions has implications for research and clinical settings.
C1 [Tavassoli, Teresa; Baron-Cohen, Simon] Univ Cambridge, Cambridge CB2 1TN, England.
[Tavassoli, Teresa] Icahn Sch Med Mt Sinai, Seaver Autism Ctr, New York, NY 10129 USA.
[Miller, Lucy J.; Schoen, Sarah A.] Sensory Therapies & Res STAR Ctr, Greenwood Village, CO 80111 USA.
[Miller, Lucy J.; Schoen, Sarah A.; Nielsen, Darci M.] Sensory Proc Disorder Fdn, Greenwood Village, CO USA.
[Miller, Lucy J.] Univ Colorado Denver, Denver, CO USA.
[Miller, Lucy J.; Schoen, Sarah A.] Rocky Mt Univ Hlth Profess, Provo, UT 84606 USA.
RP Tavassoli, T (reprint author), Icahn Sch Med Mt Sinai, Seaver Autism Ctr, 1428 Madison Ave, New York, NY 10129 USA.
EM teresa.tavassoli@mssm.edu
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NR 31
TC 2
Z9 2
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2014
VL 18
IS 4
BP 428
EP 432
DI 10.1177/1362361313477246
PG 5
WC Psychology, Developmental
SC Psychology
GA AF0BU
UT WOS:000334377400009
PM 24085741
ER
PT J
AU Siller, M
Reyes, N
Hotez, E
Hutman, T
Sigman, M
AF Siller, Michael
Reyes, Nuri
Hotez, Emily
Hutman, Ted
Sigman, Marian
TI Longitudinal change in the use of services in autism spectrum disorder:
Understanding the role of child characteristics, family demographics,
and parent cognitions
SO AUTISM
LA English
DT Article
DE autism; children; family; interventions; parent; school; services
ID MOTHERS; COMMUNICATION; PRESCHOOLERS; INTERVENTION; SATISFACTION;
INDIVIDUALS; DIAGNOSIS; EFFICACY; STRESS; ACCESS
AB The aim of this study was to identify child characteristics, family demographics, and parent cognitions that may affect access to early intervention, special education, and related services. The sample included 70 families of young children with autism spectrum disorders. All parents were enrolled in a short education program, providing them with basic information and resources on advocating for a young child with autism spectrum disorders (Parent Advocacy Coaching). Longitudinal change in children's intervention program in the community was evaluated over a period of about 27 months, starting 12 months prior to enrollment in Parent Advocacy Coaching. Results revealed large individual differences in the intensity of children's individual and school-based services. Despite this variability, only two child characteristics (age, gender) emerged as independent predictors. In contrast, the intensity of children's intervention programs was independently predicted by a broad range of demographic characteristics, including parental education, child ethnicity and race, and family composition. Finally, even after child characteristics and family demographics were statistically controlled, results revealed associations between specific parental cognitions (parenting efficacy, understanding of child development) and the subsequent rate of change in the intensity of children's intervention programs. Implications for improving educational programs that aim to enhance parent advocacy are discussed.
C1 [Siller, Michael; Reyes, Nuri; Hutman, Ted; Sigman, Marian] Univ Calif Los Angeles, Los Angeles, CA USA.
[Siller, Michael; Hotez, Emily] CUNY, New York, NY USA.
[Reyes, Nuri] Virginia Tech, Nashville, TN USA.
RP Siller, M (reprint author), CUNY Hunter Coll, Dept Psychol, RM 611 HN,695 Pk Ave, New York, NY 10065 USA.
EM msiller@hunter.cuny.edu
CR Barrett B, 2011, J AUTISM DEV DISORD, V42, P797
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NR 28
TC 3
Z9 3
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2014
VL 18
IS 4
BP 433
EP 446
DI 10.1177/1362361313476766
PG 14
WC Psychology, Developmental
SC Psychology
GA AF0BU
UT WOS:000334377400010
PM 24108191
ER
PT J
AU Kakooza-Mwesige, A
Ssebyala, K
Karamagi, C
Kiguli, S
Smith, K
Anderson, MC
Croen, LA
Trevathan, E
Hansen, R
Smith, D
Grether, JK
AF Kakooza-Mwesige, Angelina
Ssebyala, Keron
Karamagi, Charles
Kiguli, Sarah
Smith, Karen
Anderson, Meredith C.
Croen, Lisa A.
Trevathan, Edwin
Hansen, Robin
Smith, Daniel
Grether, Judith K.
TI Adaptation of the " ten questions" to screen for autism and other
neurodevelopmental disorders in Uganda
SO AUTISM
LA English
DT Article
DE autism spectrum disorder screening and assessment; developing countries;
low- and middle-income countries; neurodevelopmental disorder screening
and assessment; Uganda
ID CHILDHOOD DISABILITY; CHILDREN; PREVALENCE; VALIDITY; EPILEPSY; JAMAICA;
RELIABILITY; IMPAIRMENT; BANGLADESH; COUNTRIES
AB Neurodevelopmental disorders are recognized to be relatively common in developing countries but little data exist for planning effective prevention and intervention strategies. In particular, data on autism spectrum disorders are lacking. For application in Uganda, we developed a 23-question screener (23Q) that includes the Ten Questions screener and additional questions on autism spectrum disorder behaviors. We then conducted household screening of 1169 children, 2-9 years of age, followed by clinical assessment of children who screened positive and a sample of those who screened negative to evaluate the validity of the screener. We found that 320 children (27% of the total) screened positive and 68 children received a clinical diagnosis of one or more moderate to severe neurodevelopmental disorders (autism spectrum disorder; cerebral palsy; epilepsy; cognitive, speech and language, hearing, or vision impairment), including 8 children with autism spectrum disorders. Prevalence and validity of the screener were evaluated under different statistical assumptions. Sensitivity of the 23Q ranged from 0.55 to 0.80 and prevalence for 1 neurodevelopmental disorders from 7.7/100 children to 12.8/100 children depending on which assumptions were used. The combination of screening positive on both autism spectrum disorders and Ten Questions items was modestly successful in identifying a subgroup of children at especially high risk of autism spectrum disorders. We recommend that autism spectrum disorders and related behavioral disorders be included in studies of neurodevelopmental disorders in low-resource settings to obtain essential data for planning local and global public health responses.
C1 [Kakooza-Mwesige, Angelina; Ssebyala, Keron; Karamagi, Charles; Kiguli, Sarah] Makerere Univ, Mulago Natl Referral Hosp, Kampala, Uganda.
[Smith, Karen; Anderson, Meredith C.; Smith, Daniel; Grether, Judith K.] Sequoia Fdn, USA Kaiser Permanente Div Res, Berkeley, CA 94703 USA.
[Croen, Lisa A.] St Louis Univ, Sch Publ Hlth & Social Justice, St Louis, MO 63103 USA.
[Trevathan, Edwin] Univ Calif Davis, Davis, CA 95616 USA.
[Hansen, Robin] Sequoia Fdn, Berkeley, CA 94703 USA.
RP Grether, JK (reprint author), Sequoia Fdn, 1633 Channing Way, Berkeley, CA 94703 USA.
EM jkgrether@gmail.com
CR ADOH TO, 1994, VISION RES, V34, P555, DOI 10.1016/0042-6989(94)90168-6
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 35
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2014
VL 18
IS 4
BP 447
EP 457
DI 10.1177/1362361313475848
PG 11
WC Psychology, Developmental
SC Psychology
GA AF0BU
UT WOS:000334377400011
PM 23536263
ER
PT J
AU Plavnick, JB
Hume, KA
AF Plavnick, Joshua B.
Hume, Kara A.
TI Observational learning by individuals with autism: A review of teaching
strategies
SO AUTISM
LA English
DT Article
DE autism; group instruction; modeling; observational learning
ID SMALL-GROUP INSTRUCTION; SPECTRUM DISORDERS; REINFORCEMENT
CONTINGENCIES; DEVELOPMENTAL-DISABILITIES; PRESCHOOL-CHILDREN; IN-VIVO;
BEHAVIOR; SKILLS; ACQUISITION; STUDENTS
AB Observational learning is the process used to explain the acquisition of novel behaviors or performance of previously acquired behaviors under novel conditions after observing the behavior of another person and the consequences that follow the behavior. Many learners with autism do not attend to environmental stimuli at a level sufficient to learn a range of prosocial behaviors through observation of others. Modeling, group or dyadic instruction, and explicit observation training can improve the extent to which individuals with autism learn through observation. This article reviews previous research that involved observational learning by individuals with autism and outlines future research that could benefit instructional practices.
C1 [Plavnick, Joshua B.] Michigan State Univ, E Lansing, MI 48824 USA.
[Hume, Kara A.] Univ N Carolina, Chapel Hill, NC USA.
RP Plavnick, JB (reprint author), Michigan State Univ, Dept Counseling Educ Psychol & Special Educ, 341 Erickson Hall, E Lansing, MI 48824 USA.
EM plavnick@msu.edu
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NR 43
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2014
VL 18
IS 4
BP 458
EP 466
DI 10.1177/1362361312474373
PG 9
WC Psychology, Developmental
SC Psychology
GA AF0BU
UT WOS:000334377400012
PM 24101717
ER
PT J
AU Chang, YC
Laugeson, EA
Gantman, A
Ellingsen, R
Frankel, F
Dillon, AR
AF Chang, Ya-Chih
Laugeson, Elizabeth A.
Gantman, Alexander
Ellingsen, Ruth
Frankel, Fred
Dillon, Ashley R.
TI Predicting treatment success in social skills training for adolescents
with autism spectrum disorders: The UCLA Program for the Education and
Enrichment of Relational Skills
SO AUTISM
LA English
DT Article
DE adolescents; autism spectrum disorders; friendship; predictors; Program
for the Education and Enrichment of Relational Skills; social skills
ID ASPERGER-SYNDROME; CHILDREN
AB This study seeks to examine the predictors of positive social skills outcomes from the University of California, Los Angeles Program for the Education and Enrichment of Relational Skills, an evidence-based parent-assisted social skills program for high-functioning middle school and high school adolescents with autism spectrum disorders. The results revealed that adolescents with higher parent-reported baseline social skills and lower self-reported perceived social functioning demonstrated greater improvement in social skills following the intervention.
C1 [Dillon, Ashley R.] Pacific Grad Sch Psychol, Palo Alto, CA USA.
RP Chang, YC (reprint author), Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, 300 Med Plaza,Suite 1273, Los Angeles, CA 90095 USA.
EM yjchang@mednet.ucla.edu
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NR 16
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2014
VL 18
IS 4
BP 467
EP 470
DI 10.1177/1362361313478995
PG 4
WC Psychology, Developmental
SC Psychology
GA AF0BU
UT WOS:000334377400013
PM 24108192
ER
PT J
AU Marrus, N
Veenstra-VanderWeele, J
Hellings, JA
Stigler, KA
Szymanski, L
King, BH
Carlisle, LL
Cook, EH
Pruett, JR
AF Marrus, Natasha
Veenstra-VanderWeele, Jeremy
Hellings, Jessica A.
Stigler, Kimberly A.
Szymanski, Ludwik
King, Bryan H.
Carlisle, L. Lee
Cook, Edwin H., Jr.
Pruett, John R., Jr.
CA Amer Acad Child Adolescent
TI Training of child and adolescent psychiatry fellows in autism and
intellectual disability
SO AUTISM
LA English
DT Article
DE autism; intellectual disability; education; fellowship training
ID PSYCHOTROPIC MEDICATION USE; SPECTRUM DISORDERS
AB Patients with autism spectrum disorders and intellectual disability can be clinically complex and often have limited access to psychiatric care. Because little is known about post-graduate clinical education in autism spectrum disorder and intellectual disability, we surveyed training directors of child and adolescent psychiatry fellowship programs. On average, child and adolescent psychiatry directors reported lectures of 3 and 4 h per year in autism spectrum disorder and intellectual disability, respectively. Training directors commonly reported that trainees see 1-5 patients with autism spectrum disorder or intellectual disability per year for outpatient pharmacological management and inpatient treatment. Overall, 43% of directors endorsed the need for additional resources for training in autism spectrum disorder and intellectual disability, which, coupled with low didactic and clinical exposure, suggests that current training is inadequate.
C1 [Marrus, Natasha; Pruett, John R., Jr.] Washington Univ, Sch Med, St Louis, MO 63110 USA.
[Veenstra-VanderWeele, Jeremy] Vanderbilt Univ, Nashville, TN USA.
[Hellings, Jessica A.] Ohio State Univ, Nisonger Ctr, Columbus, OH 43210 USA.
[Stigler, Kimberly A.] Indiana Univ, Sch Med, Bloomington, IN 47405 USA.
[Szymanski, Ludwik] Boston Childrens Hosp, Boston, MA USA.
[King, Bryan H.; Carlisle, L. Lee] Univ Washington, Sch Med, Seattle, WA 98195 USA.
[King, Bryan H.; Carlisle, L. Lee] Seattle Childrens Hosp, Seattle, WA USA.
[Cook, Edwin H., Jr.] Univ Illinois, Chicago, IL USA.
RP Marrus, N (reprint author), Washington Univ, Sch Med, Dept Psychiat, Div Adolescent & Child, 660 South Euclid Ave,Box 8134, St Louis, MO 63110 USA.
EM marrusn@psychiatry.wustl.edu
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NR 14
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD MAY
PY 2014
VL 18
IS 4
BP 471
EP 475
DI 10.1177/1362361313477247
PG 5
WC Psychology, Developmental
SC Psychology
GA AF0BU
UT WOS:000334377400014
PM 24113341
ER
PT J
AU Wang, Y
Kasper, LH
AF Wang, Yan
Kasper, Lloyd H.
TI The role of microbiome in central nervous system disorders
SO BRAIN BEHAVIOR AND IMMUNITY
LA English
DT Review
DE Microbiome; Central nervous system; Gut-brain axis; Neuro-immune
disorders; Neuro-psychiatric disorders
ID EXPERIMENTAL AUTOIMMUNE ENCEPHALOMYELITIS; IRRITABLE-BOWEL-SYNDROME;
ANXIETY-LIKE BEHAVIOR; REGULATORY T-CELLS; POSTMYOCARDIAL INFARCTION
DEPRESSION; PROBIOTIC BIFIDOBACTERIUM-INFANTIS; INDUCED VISCERAL
HYPERSENSITIVITY; EXACERBATE NEUROLOGICAL SYMPTOMS; AUTISM SPECTRUM
DISORDER; GUILLAIN-BARRE-SYNDROME
AB Mammals live in a co-evolutionary association with the plethora of microorganisms that reside at a variety of tissue microenvironments. The microbiome represents the collective genomes of these co-existing microorganisms, which is shaped by host factors such as genetics and nutrients but in turn is able to influence host biology in health and disease. Niche-specific microbiome, prominently the gut microbiome, has the capacity to effect both local and distal sites within the host. The gut microbiome has played a crucial role in the bidirectional gut-brain axis that integrates the gut and central nervous system (CNS) activities, and thus the concept of microbiome-gut-brain axis is emerging. Studies are revealing how diverse forms of neuro-immune and neuro-psychiatric disorders are correlated with or modulated by variations of microbiome, microbiota-derived products and exogenous antibiotics and probiotics. The microbiome poises the peripheral immune homeostasis and predisposes host susceptibility to CNS autoimmune diseases such as multiple sclerosis. Neural, endocrine and metabolic mechanisms are also critical mediators of the microbiome-CNS signaling, which are more involved in neuro-psychiatric disorders such as autism, depression, anxiety, stress. Research on the role of microbiome in CNS disorders deepens our academic knowledge about host-microbiome commensalism in central regulation and in practicality, holds conceivable promise for developing novel prognostic and therapeutic avenues for CNS disorders. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Kasper, Lloyd H.] Dartmouth Coll, Geisel Sch Med, Dept Microbiol & Immunol, Hanover, NH 03755 USA.
Dartmouth Coll, Geisel Sch Med, Dept Med, Hanover, NH 03755 USA.
RP Kasper, LH (reprint author), Dartmouth Coll, Geisel Sch Med, Dept Microbiol & Immunol, Hanover, NH 03755 USA.
EM Lloyd.H.Kasper@dartmouth.edu
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NR 159
TC 16
Z9 16
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0889-1591
EI 1090-2139
J9 BRAIN BEHAV IMMUN
JI Brain Behav. Immun.
PD MAY
PY 2014
VL 38
BP 1
EP 12
DI 10.1016/j.bbi.2013.12.015
PG 12
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AF8RU
UT WOS:000334984100001
PM 24370461
ER
PT J
AU Piras, IS
Haapanen, L
Napolioni, V
Sacco, R
Van de Water, J
Persico, AM
AF Piras, I. S.
Haapanen, L.
Napolioni, V.
Sacco, R.
Van de Water, J.
Persico, A. M.
TI Anti-brain antibodies are associated with more severe cognitive and
behavioral profiles in Italian children with Autism Spectrum Disorder
SO BRAIN BEHAVIOR AND IMMUNITY
LA English
DT Article
DE Autism; Autism Spectrum Disorder; Autoantibodies; Autoimmunity;
Cerebellum; Cognitive impairment; Language development; Macrocephaly;
Sleep/wake cycle
ID PRINCIPAL PATHOGENETIC COMPONENTS; MATERNAL AUTOANTIBODIES; IMMUNE
DYSFUNCTION; BRAIN; CEREBELLUM; AUTOIMMUNITY; NARCOLEPSY; PROTEINS;
PLASMA; SYSTEM
AB Circulating 45 and 62 kDa antibodies targeting the cerebellum were previously associated with Autism Spectrum Disorder (ASD), lower adaptive/cognitive function and aberrant behaviors. Moreover, 37, 39 and 73 kDa maternal antibodies (mAb) targeting the fetal brain were previously correlated with broad autism spectrum, irritability, abnormal brain enlargement and impaired expressive language. The present study aims towards clinically characterizing individuals with brain-targeted IgG and/or exposed to maternal antibrain antibodies in a large sample of Italian autistic children (N = 355), their unaffected siblings (N = 142) and mothers (N = 333). The presence of patient- and mother-produced anti-brain antibodies does not confer increased risk of autism within the same sibship. However, the 45 and 62 kDa antibodies are correlated with autism severity: the 45 kDa Ab is associated with cognitive impairment and lower scores at the Vineland Adaptive Behavior Scales, the 62 kDa Ab with motor stereotypies, while both correlate with larger head circumference (all P < 0.05). On the other hand, maternal 37, 39 and 73 kDa antibrain antibodies, either alone or in combination, are correlated with impaired verbal and non-verbal language development, neurodevelopmental delay and sleep/wake cycle disturbances in their autistic children (P < 0.05). Presence of the 62 kDa autoAb in the child is significantly associated with presence of the 39 and/or 73 kDa antibodies in his/her mother. Our results confirm and extend previous observations in an ethnically distinct sample, providing further evidence of a pathomorphic role for antibrain antibodies in autism while demonstrating their familial clustering. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Piras, I. S.; Napolioni, V.; Sacco, R.; Persico, A. M.] Univ Campus Biomed, Lab Mol Psychiat & Neurogenet, Unit Child & Adolescent NeuroPsychiat, Rome, Italy.
[Haapanen, L.; Van de Water, J.] Univ Calif Davis, Dept Internal Med, Davis, CA 95616 USA.
[Haapanen, L.; Van de Water, J.] Univ Calif Davis, Davis MIND Inst, Davis, CA 95616 USA.
[Haapanen, L.; Van de Water, J.] Univ Calif Davis, Childrens Ctr Environm Hlth, Davis, CA 95616 USA.
[Sacco, R.; Persico, A. M.] Fdn Santa Lucia, IRCCS, Dept Expt Neurosci, Rome, Italy.
[Persico, A. M.] Mafalda Luce Ctr Pervas Dev Disorders, Milan, Italy.
RP Persico, AM (reprint author), Univ Campus Biomed, Lab Mol Psychiat & Neurogenet, Unit Child & Adolescent NeuroPsychiat, Via Alvaro Portillo 21, Rome, Italy.
EM a.persico@unicampus.it
FU Italian Ministry for University, Scientific Research and Technology
(PRIN) [2006058195, 2008BACT54_002]; Italian Ministry of Health
[RFPS-2007-5-640174, RF-2011-02350537, CCM2012-Progetto NIDA];
Fondazione Gaetano e Mafalda Luce (Milan, Italy); Autism Aid ONLUS
(Naples, Italy); Autism Speaks (Princeton, NJ); Autism Research
Institute (San Diego, CA); Innovative Medicines Initiative Joint
Undertaking (EU-AIMS) [115300]; NIEHS [1 P01 ES11269-01, 1
R01-ES015359]; U.S. Environmental Protection Agency (U.S.EPA) through
the Science to Achieve Results (STAR) program [R829388]; UC Davis
M.I.N.D. Institute
FX The Authors wish to thank all the patients and families who participated
in this study. This work was supported by the Italian Ministry for
University, Scientific Research and Technology (PRIN no. 2006058195 and
no. 2008BACT54_002), the Italian Ministry of Health (RFPS-2007-5-640174,
RF-2011-02350537 and CCM2012-Progetto NIDA), the Fondazione Gaetano e
Mafalda Luce (Milan, Italy), Autism Aid ONLUS (Naples, Italy), Autism
Speaks (Princeton, NJ), the Autism Research Institute (San Diego, CA),
and the Innovative Medicines Initiative Joint Undertaking (EU-AIMS, no.
115300), NIEHS 1 P01 ES11269-01, the U.S. Environmental Protection
Agency (U.S.EPA) through the Science to Achieve Results (STAR) program
(Grant R829388), NIEHS 1 R01-ES015359, the UC Davis M.I.N.D. Institute.
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NR 42
TC 5
Z9 5
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0889-1591
EI 1090-2139
J9 BRAIN BEHAV IMMUN
JI Brain Behav. Immun.
PD MAY
PY 2014
VL 38
BP 91
EP 99
DI 10.1016/j.bbi.2013.12.020
PG 9
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AF8RU
UT WOS:000334984100010
PM 24389156
ER
PT J
AU Onore, CE
Schwartzer, JJ
Careaga, M
Berman, RF
Ashwood, P
AF Onore, Charity E.
Schwartzer, Jared J.
Careaga, Milo
Berman, Robert F.
Ashwood, Paul
TI Maternal immune activation leads to activated inflammatory macrophages
in offspring
SO BRAIN BEHAVIOR AND IMMUNITY
LA English
DT Article
DE MIA; Maternal; Immune activation; Macrophage; M1; M2; Mouse; Autism;
Behavior; Inflammation
ID AUTISM SPECTRUM DISORDERS; T-CELLS; DENDRITIC RETRACTION;
CONGENITAL-RUBELLA; NEONATAL MICE; RETT-SYNDROME; POLARIZATION;
INFECTION; SCHIZOPHRENIA; BRAIN
AB Several epidemiological studies have shown an association between infection or inflammation during pregnancy and increased risk of autism in the child. In addition, animal models have illustrated that maternal inflammation during gestation can cause autism-relevant behaviors in the offspring; so called maternal immune activation (MIA) models. More recently, permanent changes in T cell cytokine responses were reported in children with autism and in offspring of MIA mice; however, the cytokine responses of other immune cell populations have not been thoroughly investigated in these MIA models. Similar to changes in T cell function, we hypothesized that following MIA, offspring will have long-term changes in macrophage function. To test this theory, we utilized the poly (I:C) MIA mouse model in C57BL/6J mice and examined macrophage cytokine production in adult offspring. Pregnant dams were given either a single injection of 20 mg/kg polyinosinic-polycytidylic acid, poly (I:C), or saline delivered intraperitoneally on gestational day 12.5. When offspring of poly (I:C) treated dams reached 10 weeks of age, femurs were collected and bone marrow-derived macrophages were generated. Cytokine production was measured in bone marrow-derived macrophages incubated for 24 h in either growth media alone, LPS, IL-4/LPS, or IFN-gamma/LPS. Following stimulation with LPS alone, or the combination of IFN-gamma/LPS, macrophages from offspring of poly (I:C) treated dams produced higher levels of IL-12(p40) (p < 0.04) suggesting an increased M1 polarization. In addition, even without the presence of a polarizing cytokine or LPS stimulus, macrophages from offspring of poly (I:C) treated dams exhibited a higher production of CCL3 (p = 0.05). Moreover, CCL3 levels were further increased when stimulated with LPS, or polarized with either IL-4/LPS or IFN-gamma/LPS (p < 0.05) suggesting a general increase in production of this chemokine. Collectively, these data suggest that MIA can produce lasting changes in macrophage function that are sustained into adulthood. (C) 2014 Published by Elsevier Inc.
C1 [Onore, Charity E.; Careaga, Milo; Ashwood, Paul] Univ Calif Davis, Dept Med Microbiol & Immunol, Davis, CA 95616 USA.
[Onore, Charity E.; Schwartzer, Jared J.; Careaga, Milo; Berman, Robert F.; Ashwood, Paul] Univ Calif Davis, MIND Inst, Davis, CA 95616 USA.
[Schwartzer, Jared J.; Berman, Robert F.] Univ Calif Davis, Dept Psychiat & Behav Sci, Davis, CA 95616 USA.
[Berman, Robert F.] Univ Calif Davis, Dept Neurol Surg, Davis, CA 95616 USA.
[Schwartzer, Jared J.] Mt Holyoke Coll, Dept Psychol & Educ, S Hadley, MA 01075 USA.
RP Ashwood, P (reprint author), MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM pashwood@ucdavis.edu
FU NIH [T32MH073124]; Jane Botsford Johnson Foundation; Peter Emch
Foundation; Barbara and Michael Bass Foundation; Brain & Behavior
Research Foundation; Autism Research Institute
FX This work was supported by NIH T32MH073124, Jane Botsford Johnson
Foundation, Peter Emch Foundation, Barbara and Michael Bass Foundation,
the Brain & Behavior Research Foundation (formerly known as National
Alliance for Research on Schizophrenia and Depression) and the Autism
Research Institute. This research was conducted in the absence of any
commercial or financial relationships that could be construed as a
potential conflict of interest.
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NR 61
TC 4
Z9 4
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0889-1591
EI 1090-2139
J9 BRAIN BEHAV IMMUN
JI Brain Behav. Immun.
PD MAY
PY 2014
VL 38
BP 220
EP 226
DI 10.1016/j.bbi.2014.02.007
PG 7
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AF8RU
UT WOS:000334984100024
PM 24566386
ER
PT J
AU Gokcen, E
Petrides, KV
Hudry, K
Frederickson, N
Smillie, LD
AF Goekcen, Elif
Petrides, Konstantinos V.
Hudry, Kristelle
Frederickson, Norah
Smillie, Luke D.
TI Sub-threshold autism traits: The role of trait emotional intelligence
and cognitive flexibility
SO BRITISH JOURNAL OF PSYCHOLOGY
LA English
DT Article
ID SPECTRUM QUOTIENT AQ; HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME;
EXECUTIVE FUNCTION; EMPATHY QUOTIENT; MIND; CHILDREN; INDIVIDUALS;
PERSONALITY; RELIABILITY
AB Theory and research suggests that features of autism are not restricted to individuals diagnosed with autism spectrum disorders (ASDs), and that autism-like traits vary throughout the general population at lower severities. The present research first investigated the relationship of autism traits with trait emotional intelligence and empathy in a sample of 163 adults aged between 18 and 51years (44% male). It then examined performance on a set of tasks assessing social cognition and cognitive flexibility in 69 participants with either high or low scores on ASD traits. Results confirm that there is pronounced variation within the general population relating to ASD traits, which reflect similar (though less severe) social-cognitive and emotional features to those observed in ASDs.
C1 [Goekcen, Elif; Petrides, Konstantinos V.] UCL, London Psychometr Lab, London WC1E 6BT, England.
[Hudry, Kristelle] La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Bundoora, Vic 3086, Australia.
[Frederickson, Norah] UCL, Res Dept Clin Educ & Hlth Psychol, London WC1E 6BT, England.
[Smillie, Luke D.] Univ Melbourne, Melbourne Sch Psychol Sci, Melbourne, Vic 3010, Australia.
RP Petrides, KV (reprint author), UCL, Dept Psychol, Gower St, London WC1E 6BT, England.
EM k.petrides@ucl.ac.uk
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NR 43
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0007-1269
EI 2044-8295
J9 BRIT J PSYCHOL
JI Br. J. Psychol.
PD MAY
PY 2014
VL 105
IS 2
BP 187
EP 199
DI 10.1111/bjop.12033
PG 13
WC Psychology, Multidisciplinary
SC Psychology
GA AF6BE
UT WOS:000334798600004
PM 24754807
ER
PT J
AU Danielsson, K
Mun, LJ
Lordemann, A
Mao, J
Lin, CHJ
AF Danielsson, Krissi
Mun, Liew Jun
Lordemann, Amanda
Mao, Jimmy
Lin, Cheng-Ho Jimmy
TI Next-generation sequencing applied to rare diseases genomics
SO EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
LA English
DT Review
DE bioethics; rare diseases; next-generation sequencing; diagnostics;
genomics
ID DE-NOVO MUTATIONS; AMYOTROPHIC-LATERAL-SCLEROSIS; LEBER CONGENITAL
AMAUROSIS; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; AUTISM SPECTRUM
DISORDERS; HUMAN-GENETICS RESEARCH; SPINOCEREBELLAR ATAXIA; INCIDENTAL
FINDINGS; MITOCHONDRIAL CARDIOMYOPATHY; METHYLMALONIC ACIDURIA
AB Genomics has revolutionized the study of rare diseases. In this review, we overview the latest technological development, rare disease discoveries, implementation obstacles and bioethical challenges. First, we discuss the technology of genome and exome sequencing, including the different next-generation platforms and exome enrichment technologies. Second, we survey the pioneering centers and discoveries for rare diseases, including few of the research institutions that have contributed to the field, as well as an overview survey of different types of rare diseases that have had new discoveries due to next-generation sequencing. Third, we discuss the obstacles and challenges that allow for clinical implementation, including returning of results, informed consent and privacy. Last, we discuss possible outlook as clinical genomics receives wider adoption, as third-generation sequencing is coming onto the horizon, and some needs in informatics and software to further advance the field.
C1 [Danielsson, Krissi; Mun, Liew Jun; Lordemann, Amanda; Mao, Jimmy; Lin, Cheng-Ho Jimmy] Rare Genom Inst, St Louis, MO 63108 USA.
RP Lin, CHJ (reprint author), Rare Genom Inst, 4100 Forest Pk Ave,Suite 204, St Louis, MO 63108 USA.
EM jimmy.lin@raregenomics.org
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NR 145
TC 1
Z9 1
PU EXPERT REVIEWS
PI LONDON
PA UNITEC HOUSE, 3RD FL, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON N3 1QB,
ENGLAND
SN 1473-7159
EI 1744-8352
J9 EXPERT REV MOL DIAGN
JI Expert Rev. Mol. Diagn.
PD MAY
PY 2014
VL 14
IS 4
BP 469
EP 487
DI 10.1586/14737159.2014.904749
PG 19
WC Pathology
SC Pathology
GA AF3FW
UT WOS:000334597900008
PM 24702023
ER
PT J
AU Xue, J
Ooh, J
Magiati, I
AF Xue, J.
Ooh, J.
Magiati, I.
TI Family functioning in Asian families raising children with autism
spectrum disorders: the role of capabilities and positive meanings
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE reframing; coping; stressors; family functioning; autism spectrum
disorders; adjustment
ID DOUBLE ABCX MODEL; COPING STRATEGIES; BEHAVIOR PROBLEMS; INTELLECTUAL
DISABILITY; PARENTING STRESS; DOWN-SYNDROME; HONG-KONG; MOTHERS; IMPACT;
WELL
AB Background
There has been increasing interest in exploring the factors contributing to successful adaptation and family functioning in ethnically and culturally diverse families who raise children with autism spectrum disorders (ASD), in order to inform more appropriate strength-based family support services. This pilot study used the Family Adjustment and Adaptation Response (FAAR) model as a theoretical framework to investigate the role of families' capabilities (coping strategies and resources of support) and positive meanings in raising a child with ASD in family functioning in an Asian context.
Methods
Sixty-five Singaporean parents of 3- to 11-year-old children with ASD completed a series of questionnaires on demands, coping strategies, social support, positive meanings and family functioning.
Results
Families reported a number of helpful coping strategies. Coping through family integration/optimism was most helpful, followed by understanding the condition and by developing esteem and psychological stability. Reported capabilities, but not positive meanings, mediated the relationship between demands and family functioning.
Conclusion
The findings are discussed in relation to existing literature, possible specific cultural issues, and the strengths and limitations of the study. Implications for supporting families of children with ASD in different social and cultural contexts are also discussed.
C1 [Xue, J.; Magiati, I.] Natl Univ Singapore, Singapore 117570, Singapore.
[Ooh, J.] Natl Univ Singapore Hosp, Singapore 117548, Singapore.
RP Magiati, I (reprint author), Natl Univ Singapore, AS4 02-24,9 ARTS LINK, Singapore 117570, Singapore.
EM psyim@nus.edu.sg
CR Abbeduto L, 2004, AM J MENT RETARD, V109, P237, DOI 10.1352/0895-8017(2004)109<237:PWACIM>2.0.CO;2
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 65
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD MAY
PY 2014
VL 58
IS 5
BP 406
EP 420
DI 10.1111/jir.12034
PG 15
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AE7KU
UT WOS:000334177500002
PM 23510076
ER
PT J
AU Pozo, P
Sarria, E
Brioso, A
AF Pozo, P.
Sarria, E.
Brioso, A.
TI Family quality of life and psychological well-being in parents of
children with autism spectrum disorders: a double ABCX model
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE coping strategies; family quality of life; autism spectrum disorders;
double ABCX model; psychological well-being; sense of coherence
ID SCHOOL-AGE-CHILDREN; DEVELOPMENTAL-DISABILITIES; MENTAL-RETARDATION;
COPING STRATEGIES; BEHAVIOR-PROBLEMS; YOUNG-CHILDREN; POSITIVE
PERCEPTIONS; PRESCHOOL-CHILDREN; COHERENCE SCALE; SOCIAL SUPPORT
AB Background
This study examined family quality of life (FQOL) and psychological well-being from a multidimensional perspective. The proposed model was based on the double ABCX model, with severity of the disorder, behaviour problems, social support, sense of coherence (SOC) and coping strategies as components.
Method
One hundred and eighteen parents (59 mothers and 59 fathers) with a child diagnosed with autism spectrum disorders (ASD) participated in the study. Separate path analyses were performed to evaluate models of FQOL and psychological well-being for mothers and fathers.
Results
In all models, behaviour problems had a negative indirect effect on adaptation (FQOL and psychological well-being) through SOC. For both mothers and fathers, the severity of the disorder and social support played significant roles in FQOL models. Coping strategies were related with adaptation, active avoidance coping with FQOL for fathers and positive and problem-focused coping with psychological well-being for mothers.
Conclusions
The results of this study highlight the value of the multidimensional approach. The specific patterns of results for mothers and fathers contribute to comprehension of the psychological adaptation of parents. Findings could be taken into account in interventions with families.
C1 [Pozo, P.; Sarria, E.; Brioso, A.] UNED Natl Univ Distance Educ, Fac Psychol, Madrid, Spain.
RP Sarria, E (reprint author), UNED, Fac Psychol, C Juan del Rosal 10, Madrid 28040, Spain.
EM esarria@psi.uned.es
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NR 82
TC 5
Z9 5
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD MAY
PY 2014
VL 58
IS 5
BP 442
EP 458
DI 10.1111/jir.12042
PG 17
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AE7KU
UT WOS:000334177500005
PM 23600450
ER
PT J
AU Gillespie-Smith, K
Riby, DM
Hancock, PJB
Doherty-Sneddon, G
AF Gillespie-Smith, K.
Riby, D. M.
Hancock, P. J. B.
Doherty-Sneddon, G.
TI Children with autism spectrum disorder (ASD) attend typically to faces
and objects presented within their picture communication systems
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE eye-tracking; cognitive behaviour; communication; autism spectrum
disorder
ID WILLIAMS-SYNDROME; BEHAVIOR; LOOKING; PECS
AB Background
Children with autism spectrum disorder (ASD) may require interventions for communication difficulties. One type of intervention is picture communication symbols which are proposed to improve comprehension of linguistic input for children with ASD. However, atypical attention to faces and objects is widely reported across the autism spectrum for several types of stimuli.
Method
In this study we used eye-tracking methodology to explore fixation duration and time taken to fixate on the object and face areas within picture communication symbols. Twenty-one children with ASD were compared with typically developing matched groups.
Results
Children with ASD were shown to have similar fixation patterns on face and object areas compared with typically developing matched groups.
Conclusions
It is proposed that children with ASD attend to the images in a manner that does not differentiate them from typically developing individuals. Therefore children with and without autism have the same opportunity to encode the available information. We discuss what this may imply for interventions using picture symbols.
C1 [Gillespie-Smith, K.; Hancock, P. J. B.] Univ Stirling, Dept Psychol, Sch Nat Sci, Stirling FK9 4LA, Scotland.
[Riby, D. M.] Newcastle Univ, Sch Psychol, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
[Doherty-Sneddon, G.] Northumbria Univ, Sch Life Sci, Dept Psychol, Newcastle Upon Tyne NE1 8ST, Tyne & Wear, England.
RP Gillespie-Smith, K (reprint author), Univ Edinburgh, Dept Philosophy Psychol & Language, Edinburgh EH8 9JZ, Midlothian, Scotland.
EM Karri.Gillespie-Smith@ed.ac.uk
RI Hancock, Peter/A-4633-2009
OI Hancock, Peter/0000-0001-6025-7068
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 35
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD MAY
PY 2014
VL 58
IS 5
BP 459
EP 470
DI 10.1111/jir.12043
PG 12
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AE7KU
UT WOS:000334177500006
PM 23600472
ER
PT J
AU Ly, AR
Goldberg, WA
AF Ly, A. R.
Goldberg, W. A.
TI New measure for fathers of children with developmental challenges
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE developmental disabilities; fathering; autism; parenting measures; scale
development; developmental challenges
ID PARENTING STRESS; DISABILITIES; MOTHERS; AUTISM; INVOLVEMENT; FAMILIES;
SYSTEMS; PARTICIPATION
AB Background
There is a relative lack of measures tailored to the study of fathers of children with developmental challenges (DCs). The goal of the current study was to create and validate a brief measure designed to capture the perceptions and experiences of these fathers. The Fathers of Children with Developmental Challenges (FCDC) questionnaire was designed to assess fathers' perceptions of the supports for, and challenges to, their efforts to be involved in the rearing of their children.
Method
Participants were 101 fathers of children with DCs who completed an online survey. Scale validation included tests to determine reliability, validity and factor structure. Used to establish validity were measures of parenting stress, parenting commitment, parent personality and child social-communicative skills.
Results
Analyses indicated that the FCDC is reliable (alpha = 0.89), demonstrates content validity, construct validity and acts in theoretically expected ways. Factor analysis on the 20-item measure yielded two sub-scales: (1) impact on parenting, and (2) involvement with child intervention.
Conclusions
The FCDC fills a gap in the literature by offering an easy-to-administer self-report measure of fathers' perceptions of supports for, and barriers to, their involvement with their children with DCs. The FCDC could assist professionals in delivering support services specifically for fathers of children with DCs.
C1 [Ly, A. R.] Univ Delaware, Newark, DE 19716 USA.
[Goldberg, W. A.] Univ Calif Irvine, Irvine, CA USA.
RP Ly, AR (reprint author), Univ Delaware, 108 Wolf Hall, Newark, DE 19716 USA.
EM aly@psych.udel.edu
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NR 48
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD MAY
PY 2014
VL 58
IS 5
BP 471
EP 484
DI 10.1111/jir.12044
PG 14
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AE7KU
UT WOS:000334177500007
PM 23627678
ER
PT J
AU Jung, JY
DeLuca, TF
Nelson, TH
Wall, DP
AF Jung, Jae-Yoon
DeLuca, Todd F.
Nelson, Tristan H.
Wall, Dennis P.
TI A literature search tool for intelligent extraction of
disease-associated genes
SO JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
LA English
DT Article
ID HUMAN GENOME EPIDEMIOLOGY; BIPOLAR DISORDER; MULTIPLE-SCLEROSIS;
CANDIDATE GENES; AUTISM; NORMALIZATION; EXPRESSION; MUTATIONS; MODELS;
TEXT
AB Objective To extract disorder-associated genes from the scientific literature in PubMed with greater sensitivity for literature-based support than existing methods.
Methods We developed a PubMed query to retrieve disorder-related, original research articles. Then we applied a rule-based text-mining algorithm with keyword matching to extract target disorders, genes with significant results, and the type of study described by the article.
Results We compared our resulting candidate disorder genes and supporting references with existing databases. We demonstrated that our candidate gene set covers nearly all genes in manually curated databases, and that the references supporting the disorder-gene link are more extensive and accurate than other general purpose gene-to-disorder association databases.
Conclusions We implemented a novel publication search tool to find target articles, specifically focused on links between disorders and genotypes. Through comparison against gold-standard manually updated gene-disorder databases and comparison with automated databases of similar functionality we show that our tool can search through the entirety of PubMed to extract the main gene findings for human diseases rapidly and accurately.
C1 [Jung, Jae-Yoon; DeLuca, Todd F.; Wall, Dennis P.] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA 02115 USA.
[Nelson, Tristan H.; Wall, Dennis P.] Beth Israel Deaconess Med Ctr, Boston, MA 02215 USA.
RP Wall, DP (reprint author), Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA 02115 USA.
EM dpwall@hms.harvard.edu
FU National Science Foundation [0543480, 0640809]; National Institutes of
Health [LM009261]
FX This work was supported by the National Science Foundation grant nos
0543480 and 0640809 to DPW; and the National Institutes of Health grant
no. LM009261 to DPW.
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NR 96
TC 1
Z9 1
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 1067-5027
EI 1527-974X
J9 J AM MED INFORM ASSN
JI J. Am. Med. Inf. Assoc.
PD MAY
PY 2014
VL 21
IS 3
BP 399
EP 405
DI 10.1136/amiajnl-2012-001563
PG 7
WC Computer Science, Information Systems; Computer Science,
Interdisciplinary Applications; Health Care Sciences & Services;
Information Science & Library Science; Medical Informatics
SC Computer Science; Health Care Sciences & Services; Information Science &
Library Science; Medical Informatics
GA AF3KR
UT WOS:000334611600003
PM 23999671
ER
PT J
AU Ahn, K
Gotay, N
Andersen, TM
Anvari, AA
Gochman, P
Lee, Y
Sanders, S
Guha, S
Darvasi, A
Glessner, JT
Hakonarson, H
Lencz, T
State, MW
Shugart, YY
Rapoport, JL
AF Ahn, K.
Gotay, N.
Andersen, T. M.
Anvari, A. A.
Gochman, P.
Lee, Y.
Sanders, S.
Guha, S.
Darvasi, A.
Glessner, J. T.
Hakonarson, H.
Lencz, T.
State, M. W.
Shugart, Y. Y.
Rapoport, J. L.
TI High rate of disease-related copy number variations in childhood onset
schizophrenia
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE CNV; genetics; neurodevelopment; schizophrenia
ID AUTISM SPECTRUM DISORDERS; HIDDEN-MARKOV MODEL; SNP GENOTYPING DATA;
RECURRENT MICRODELETIONS; DEVELOPMENTAL DELAY; INCREASE RISK;
DOUBLE-BLIND; DELETIONS; VARIANTS; 16P11.2
AB Copy number variants (CNVs) are risk factors in neurodevelopmental disorders, including autism, epilepsy, intellectual disability (ID) and schizophrenia. Childhood onset schizophrenia (COS), defined as onset before the age of 13 years, is a rare and severe form of the disorder, with more striking array of prepsychotic developmental disorders and abnormalities in brain development. Because of the well-known phenotypic variability associated with pathogenic CNVs, we conducted whole genome genotyping to detect CNVs and then focused on a group of 46 rare CNVs that had well-documented risk for adult onset schizophrenia (AOS), autism, epilepsy and/or ID. We evaluated 126 COS probands, 69 of which also had a healthy full sibling. When COS probands were compared with their matched related controls, significantly more affected individuals carried disease-related CNVs (P = 0.017). Moreover, COS probands showed a higher rate than that found in AOS probands (P < 0.0001). A total of 15 (11.9%) subjects exhibited at least one such CNV and four of these subjects (26.7%) had two. Five of 15 (4.0% of the sample) had a 2.5-3Mb deletion mapping to 22q11.2, a rate higher than that reported for adult onset (0.3-1%) (P < 0.001) or autism spectrum disorder and, indeed, the highest rate reported for any clinical population to date. For one COS subject, a duplication found at 22q13.3 had previously only been associated with autism, and for four patients CNVs at 8q11.2, 10q22.3, 16p11.2 and 17q21.3 had only previously been associated with ID. Taken together, these findings support the well-known pleiotropic effects of these CNVs suggesting shared abnormalities early in brain development. Clinically, broad CNV-based population screening is needed to assess their overall clinical burden.
C1 [Ahn, K.; Gotay, N.; Andersen, T. M.; Anvari, A. A.; Gochman, P.; Lee, Y.; Rapoport, J. L.] NIMH, Childhood Psychiat Branch, NIH, Bethesda, MD 20892 USA.
[Sanders, S.; State, M. W.] Yale Univ, Sch Med, Dept Genet, Program Neurogenet,Child Study Ctr,Dept Psychiat, New Haven, CT 06510 USA.
[Guha, S.; Lencz, T.] Zucker Hillside Hosp, Glen Oaks, NY USA.
[Darvasi, A.] Hebrew Univ Jerusalem, Inst Life Sci, Dept Genet, IL-91904 Jerusalem, Israel.
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EM rapoporj@mail.nih.gov
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NR 50
TC 6
Z9 6
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD MAY
PY 2014
VL 19
IS 5
BP 568
EP 572
DI 10.1038/mp.2013.59
PG 5
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AF7VY
UT WOS:000334924300009
PM 23689535
ER
PT J
AU Jones, B
AF Jones, Bryony
TI HUMAN GENETICS Autism - clues from brains and protein domains
SO NATURE REVIEWS GENETICS
LA English
DT Editorial Material
CR Davis JM, 2014, PLOS GENET, V10, DOI 10.1371/journal.pgen.1004241
Stoner R, 2014, NEW ENGL J MED, V370, P1209, DOI 10.1056/NEJMoa1307491
NR 2
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1471-0056
EI 1471-0064
J9 NAT REV GENET
JI Nat. Rev. Genet.
PD MAY
PY 2014
VL 15
IS 5
BP 287
EP 287
DI 10.1038/nrg3715
PG 1
WC Genetics & Heredity
SC Genetics & Heredity
GA AF3GM
UT WOS:000334599700001
PM 24709752
ER
PT J
AU Sham, PC
Purcell, SM
AF Sham, Pak C.
Purcell, Shaun M.
TI STUDY DESIGNS Statistical power and significance testing in large-scale
genetic studies
SO NATURE REVIEWS GENETICS
LA English
DT Review
ID GENOME-WIDE ASSOCIATION; AUTISM SPECTRUM DISORDERS; SAMPLE-SIZE
REQUIREMENTS; MONTE-CARLO PROCEDURES; EMPIRICAL P-VALUES; RARE VARIANTS;
COMPLEX TRAITS; QUANTITATIVE TRAITS; SEQUENCE DATA; ENVIRONMENT
INTERACTION
AB Significance testing was developed as an objective method for summarizing statistical evidence for a hypothesis. It has been widely adopted in genetic studies, including genome-wide association studies and, more recently, exome sequencing studies. However, significance testing in both genome-wide and exome-wide studies must adopt stringent significance thresholds to allow multiple testing, and it is useful only when studies have adequate statistical power, which depends on the characteristics of the phenotype and the putative genetic variant, as well as the study design. Here, we review the principles and applications of significance testing and power calculation, including recently proposed gene-based tests for rare variants.
C1 [Sham, Pak C.] Univ Hong Kong, Li Ka Shing Fac Med, Ctr Genom Sci, Hong Kong, Hong Kong, Peoples R China.
[Sham, Pak C.] Univ Hong Kong, Li Ka Shing Fac Med, State Key Lab Brain & Cognit Sci, Hong Kong, Hong Kong, Peoples R China.
[Purcell, Shaun M.] Univ Hong Kong, Li Ka Shing Fac Med, Dept Psychiat, Hong Kong, Hong Kong, Peoples R China.
[Purcell, Shaun M.] Icahn Sch Med Mt Sinai, Ctr Stat Genet, New York, NY 10029 USA.
[Purcell, Shaun M.] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA.
[Purcell, Shaun M.] Harvard Univ, Sch Med, Boston, MA 02114 USA.
RP Sham, PC (reprint author), Univ Hong Kong, Li Ka Shing Fac Med, Ctr Genom Sci, Jockey Club Bldg Interdisciplinary Res, Hong Kong, Hong Kong, Peoples R China.
EM pcsham@hku.hk
FU University of Hong Kong Strategic Research Theme on Genomics; Hong Kong
Research Grants Council (HKRGC) [777511M, 776412M, 776513M]; HKRGC
Theme-Based Research Scheme [T12-705/11, T12-708/12-N]; European
Community Seventh Framework Programme Grant on European Network of
National Schizophrenia Networks Studying Gene-Environment Interactions
(EU-GEI); US National Institutes of Health [R01 MH099126, R01 HG005827]
FX This work was supported by The University of Hong Kong Strategic
Research Theme on Genomics; Hong Kong Research Grants Council (HKRGC)
General Research Funds 777511M, 776412M and 776513M; HKRGC Theme-Based
Research Scheme T12-705/11 and T12-708/12-N; and the European Community
Seventh Framework Programme Grant on European Network of National
Schizophrenia Networks Studying Gene-Environment Interactions (EU-GEI);
and the US National Institutes of Health grants R01 MH099126 and R01
HG005827 (to S. M. P.). The authors thank R. Porsch and S.-W. Choi for
technical assistance with the manuscript.
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NR 97
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Z9 20
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1471-0056
EI 1471-0064
J9 NAT REV GENET
JI Nat. Rev. Genet.
PD MAY
PY 2014
VL 15
IS 5
BP 335
EP 346
DI 10.1038/nrg3706
PG 12
WC Genetics & Heredity
SC Genetics & Heredity
GA AF3GM
UT WOS:000334599700011
PM 24739678
ER
PT J
AU Egger, G
Roetzer, KM
Noor, A
Lionel, AC
Mahmood, H
Schwarzbraun, T
Boright, O
Mikhailov, A
Marshall, CR
Windpassinger, C
Petek, E
Scherer, SW
Kaschnitz, W
Vincent, JB
AF Egger, Gerald
Roetzer, Katharina M.
Noor, Abdul
Lionel, Anath C.
Mahmood, Huda
Schwarzbraun, Thomas
Boright, Oliver
Mikhailov, Anna
Marshall, Christian R.
Windpassinger, Christian
Petek, Erwin
Scherer, Stephen W.
Kaschnitz, Wolfgang
Vincent, John B.
TI Identification of risk genes for autism spectrum disorder through copy
number variation analysis in Austrian families
SO NEUROGENETICS
LA English
DT Article
DE Autism; Copy number variant; Genomic; Gephyrin; Synapse
ID LINKED MENTAL-RETARDATION; DEVELOPMENTAL DELAY; EXONIC DELETIONS;
DE-NOVO; MUTATIONS; SCHIZOPHRENIA; OBESITY; REGION; SHANK3; DUPLICATIONS
AB Autism or autism spectrum disorder (ASD) is a range of neurodevelopmental disorders starting in early childhood and is characterized by impairments in communication and reciprocal social interaction and presence of restricted and repetitive patterns of behavior. The contribution of genetic factors to autism is clear in twin and family studies. It is apparent that, overall, ASD is a complex non-Mendelian disorder. Recent studies suggest that copy number variations (CNVs) play a significant role in the etiology of ASD. For the current work, we recruited 245 family members from 73 ASD families from Styria, Austria. The DNA from probands was genotyped with Affymetrix single nucleotide polymorphism (SNP) 6.0 microarrays to screen for CNVs in their genomes. Analysis of the microarray data was performed using three different algorithms, and a list of stringent calls was compared to existing CNV data from over 2,357 controls of European ancestry. For stringent calls not present in controls, quantitative real-time PCR (qRT-PCR) was used to validate the CNVs in the probands and in their family members. Twenty-two CNVs were validated from this set (five of which are apparently de novo), many of which appear likely to disrupt genes that may be considered as good candidates for neuropsychiatric disorders, including DLG2, S100B, ARX, DIP2A, HPCAL1, and GPHN. Several others disrupt genes that have previously been implicated in autism, such as BDNF, AUTS2, DPP6, and C18orf22, and our data add to the growing evidence of their involvement in ASD.
C1 [Egger, Gerald; Noor, Abdul; Mahmood, Huda; Boright, Oliver; Mikhailov, Anna; Vincent, John B.] CAMH, Neurogenet Sect, Campbell Family Brain Res Inst, Toronto, ON M5T 1R8, Canada.
[Egger, Gerald; Roetzer, Katharina M.; Schwarzbraun, Thomas; Windpassinger, Christian; Petek, Erwin] Med Univ Graz, Inst Human Genet, Graz, Austria.
[Noor, Abdul] Hosp Sick Children, Dept Pediat & Lab Med, Toronto, ON M5G 1X8, Canada.
[Lionel, Anath C.; Marshall, Christian R.; Scherer, Stephen W.] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada.
[Lionel, Anath C.; Marshall, Christian R.; Scherer, Stephen W.] Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 1X8, Canada.
[Lionel, Anath C.; Marshall, Christian R.; Scherer, Stephen W.] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
[Lionel, Anath C.; Marshall, Christian R.; Scherer, Stephen W.] Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada.
[Kaschnitz, Wolfgang] Med Univ Graz, Univ Clin Child & Adolescent Med, Graz, Austria.
[Vincent, John B.] Univ Toronto, Dept Psychiat, Toronto, ON, Canada.
[Vincent, John B.] Univ Toronto, Inst Med Sci, Toronto, ON, Canada.
RP Vincent, JB (reprint author), CAMH, Neurogenet Sect, Campbell Family Brain Res Inst, R-30,250 Coll St, Toronto, ON M5T 1R8, Canada.
EM john_vincent@camh.net
RI Scherer, Stephen /B-3785-2013
OI Scherer, Stephen /0000-0002-8326-1999
FU Genome Canada; Ontario Genomics Institute; ONB Jubilaumsfonds [13226];
NeuroDevNet; Wellcome Trust
FX We thank the patients and their families for participating in this
study. This work was supported by grants from Genome Canada and the
Ontario Genomics Institute, and ONB Jubilaumsfonds (Project Number
13226). A. C. L. holds a NeuroDevNet doctoral fellowship. S. W. S. holds
the GlaxoSmithKline-CIHR Chair in Genome Sciences at the University of
Toronto and The Hospital for Sick Children. This study makes use of data
generated by the DECIPHER and ISCA (www.iscaconsortium.org) consortia. A
full list of centers contributing to the generation of the DECIPHER data
is available from http://decipher.sanger.ac.uk and via email from
decipher@sanger.ac.uk. Funding for the DECIPHER project was provided by
the Wellcome Trust.
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NR 46
TC 2
Z9 3
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1364-6745
EI 1364-6753
J9 NEUROGENETICS
JI Neurogenetics
PD MAY
PY 2014
VL 15
IS 2
BP 117
EP 127
DI 10.1007/s10048-014-0394-0
PG 11
WC Genetics & Heredity; Clinical Neurology
SC Genetics & Heredity; Neurosciences & Neurology
GA AF7SY
UT WOS:000334916200007
PM 24643514
ER
PT J
AU Grant, PJ
Joseph, LA
Farmer, CA
Luckenbaugh, DA
Lougee, LC
Zarate, CA
Swedo, SE
AF Grant, Paul J.
Joseph, Lisa A.
Farmer, Cristan A.
Luckenbaugh, David A.
Lougee, Lorraine C.
Zarate, Carlos A., Jr.
Swedo, Susan E.
TI 12-Week, Placebo-Controlled Trial of Add-on Riluzole in the Treatment of
Childhood-Onset Obsessive-Compulsive Disorder
SO NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
DE mood/anxiety/stress disorders; psychiatry and behavioral sciences;
clinical pharmacology/clinical trials; psychopharmacology; riluzole;
obsessive-compulsive disorder
ID OF-THE-LITERATURE; AUTISTIC DISORDER; CHILDREN; ADOLESCENTS;
METAANALYSIS; RELIABILITY; VALIDITY; SCALE; PHARMACOTHERAPY; SCHEDULE
AB Many children with childhood-onset obsessive compulsive disorder (OCD) fail to respond adequately to standard therapies. Evidence from preclinical and clinical studies suggests that the glutamatergic neurotransmitter system might be an alternative treatment target. This study examined the efficacy of riluzole, a glutamatergic modulator, as an adjunctive therapy for children with treatment-resistant OCD. In a 12-week, double-blind, placebo-controlled study, 60 treatment-resistant children and adolescents (mean age=14.5 +/- 2.4 years), with moderate to severe OCD (mean Children's Yale-Brown Obsessive Compulsive Scale (CY-BOCS)=28.2 +/- 3.7), 17 of whom also had concomitant autism spectrum disorder, were randomized to receive riluzole (final dose of 100 mg/day) or placebo in addition to the existing treatment regimen. Fifty-nine subjects completed the randomized trial. Primary outcome measures were changes on the CY-BOCS, the Clinical Global Impressions Scale, and the Children's Global Assessment Scale. Riluzole was fairly well tolerated, although it was associated with one case of pancreatitis and five instances of slight increases in transaminases. All subjects showed significant reductions in CY-BOCS scores during treatment; however, there was no significant difference between placebo and riluzole on any of the primary or secondary outcome measures. The study failed to demonstrate superiority of riluzole over placebo as an adjunctive treatment for children with childhood-onset OCD. However, future studies may show benefits for less treatment-refractory children with fewer concomitant medications.
C1 [Grant, Paul J.; Joseph, Lisa A.; Farmer, Cristan A.; Lougee, Lorraine C.; Swedo, Susan E.] NIMH, Pediat & Dev Neurosci Branch, NIH, Bethesda, MD 20892 USA.
[Luckenbaugh, David A.; Zarate, Carlos A., Jr.] NIMH, Expt Therapeut & Pathophysiol Branch, NIH, Bethesda, MD 20892 USA.
RP Swedo, SE (reprint author), NIMH, Pediat & Dev Neurosci Branch, NIH, 10 Ctr Dr MSC 1255,Bldg 10,Room 1C250, Bethesda, MD 20892 USA.
EM swedos@mail.nih.gov
FU Intramural Program of the National Institute of Mental Health (NIMH) of
the National Institutes of Health (NIH) [1ZIAMH002913]
FX This research (protocol 05-M-0225) was supported by the Intramural
Program of the National Institute of Mental Health (NIMH) of the
National Institutes of Health (NIH; Grant # 1ZIAMH002913).
ClinicalTrials.gov identifier NCF00251303.
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NR 32
TC 3
Z9 4
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0893-133X
EI 1740-634X
J9 NEUROPSYCHOPHARMACOL
JI Neuropsychopharmacology
PD MAY
PY 2014
VL 39
IS 6
BP 1453
EP 1459
DI 10.1038/npp.2013.343
PG 7
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AF2RV
UT WOS:000334560600016
PM 24356715
ER
PT J
AU de Theije, CGM
Bavelaar, BM
da Silva, SL
Korte, SM
Olivier, B
Garssen, J
Kraneveld, AD
AF de Theije, Caroline G. M.
Bavelaar, Bas M.
da Silva, Sofia Lopes
Korte, Sijmen Mechiel
Olivier, Berend
Garssen, Johan
Kraneveld, Aletta D.
TI Food allergy and food-based therapies in neurodevelopmental disorders
SO PEDIATRIC ALLERGY AND IMMUNOLOGY
LA English
DT Review
DE attention deficit hyperactivity disorder; autism spectrum disorder; food
allergy; food-based therapy; gut-brain axis; neurodevelopment
ID AUTISM SPECTRUM DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
DEFICIT HYPERACTIVITY DISORDER; IRRITABLE-BOWEL-SYNDROME;
POLYUNSATURATED FATTY-ACIDS; TUBEROUS SCLEROSIS COMPLEX; PRENATAL IMMUNE
ACTIVATION; CELIAC-DISEASE; MAST-CELLS; GASTROINTESTINAL SYMPTOMS
AB Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are neurodevelopmental disorders which occur in childhood and may persist into adulthood. Although the etiology of these disorders is largely unknown, genetic and environmental factors are thought to play a role in the development of ASD and ADHD. Allergic immune reactions, in prenatal and postnatal phases, are examples of these environmental factors, and adverse reactions to foods are reported in these children. In this review, we address the clinical and preclinical findings of (food) allergy in ASD and ADHD and suggest possible underlying mechanisms. Furthermore, opportunities for nutritional interventions in neurodevelopmental disorders are provided.
C1 [de Theije, Caroline G. M.; Bavelaar, Bas M.; Korte, Sijmen Mechiel; Olivier, Berend; Garssen, Johan; Kraneveld, Aletta D.] Univ Utrecht, Utrecht Inst Pharmaceut Sci, Fac Sci, Div Pharmacol, Utrecht, Netherlands.
[da Silva, Sofia Lopes; Garssen, Johan] Nutricia Res, Utrecht, Netherlands.
[Korte, Sijmen Mechiel; Olivier, Berend] Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr Rudolf Magnus, Utrecht, Netherlands.
RP de Theije, CGM (reprint author), Univ Weg 99, NL-3584 CG Utrecht, Netherlands.
EM c.g.m.detheije@uu.nl
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NR 116
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0905-6157
EI 1399-3038
J9 PEDIAT ALLERG IMM-UK
JI Pediatr. Allergy Immunol.
PD MAY
PY 2014
VL 25
IS 3
BP 218
EP 226
DI 10.1111/pai.12149
PG 9
WC Allergy; Immunology; Pediatrics
SC Allergy; Immunology; Pediatrics
GA AF4NX
UT WOS:000334691100003
PM 24236934
ER
PT J
AU Janeslatt, G
Kottorp, A
Granlund, M
AF Janeslatt, Gunnel
Kottorp, Anders
Granlund, Mats
TI Evaluating intervention using time aids in children with disabilities
SO SCANDINAVIAN JOURNAL OF OCCUPATIONAL THERAPY
LA English
DT Article
DE assistive devices; child; intervention; time management; time perception
ID PROCESSING ABILITY; ASSISTIVE TECHNOLOGY; DEVELOPMENTAL-DISABILITIES;
MAINSTREAM SCHOOLS; CONTROLLED-TRIAL; RASCH ANALYSIS; ADHD; MANAGEMENT;
STUDENTS; AUTISM
AB Objective: The aim of this study was to evaluate complex intervention using time aids for children with intellectual and developmental disabilities who exhibit limitations in daily time management. Methods: Participating children (n = 47) (F17/M30) were aged 6-11 with ADHD, autism spectrum disorders, mild or moderate intellectual disability, spina bifida, and cerebral palsy. This study used a Randomized Block and Waiting List control group design, with 25 children allocated to control and 22 to intervention group. In total 10 children (21.3%), five from each group, dropped out, leaving 37 children in the data analysis. Results: Children in both groups gained significantly in time-processing ability between the first and second data collection, but the children in the intervention group improved time-processing ability significantly more than controls. The control group also displayed significant changes after receiving intervention between the second and third data collection. The intervention had a large effect (ES Cohen's d = 0.81) on time-processing ability and a medium effect (ES Cohen's d = 0.68) on managing one's time. Conclusions: This study provides preliminary evidence that time-processing ability and managing one's time can be improved by intervention using time aids in children with intellectual and developmental disabilities, supporting the need to consider time aids in intervention in these children.
C1 [Janeslatt, Gunnel] Uppsala Univ, Dept Publ Hlth & Caring Sci Disabil & Habilitat, Uppsala, Sweden.
[Janeslatt, Gunnel] Ctr Clin Res Dalarna, SE-79182 Falun, Sweden.
[Kottorp, Anders] Karolinska Inst, Dept NVS, Div Occupat Therapy, Huddinge, Sweden.
[Kottorp, Anders] Zurich Univ Appl Sci, Inst Occupat Therapy, Zurich, Switzerland.
[Janeslatt, Gunnel; Granlund, Mats] Jonkoping Univ, Sch Hlth Sci, CHILD, Jonkoping, Sweden.
RP Janeslatt, G (reprint author), Ctr Clin Res Dalarna, Nissers Vag 3, SE-79182 Falun, Sweden.
EM gunnel.janeslatt@ltdalarna.se
FU Clas Groschinskys Minnesfond; Centre for Clinical Research in Dalarna;
Stiftelsen Sunnerdahls Handikappfond
FX First, the authors would like to thank all 47 participating children and
their families. The funding from Clas Groschinskys Minnesfond and Centre
for Clinical Research in Dalarna supported the education of the OTs and
teachers helping out in this study, including collecting data. The
authors are also grateful to Nilbild AB for allowing the use of their
pictures in KaTid. Thanks are also offered to Specialpedagogiska
Institutet, SIH Laromedel, Umea for permission to use photos and two
painted pictures originating from "Bildbanken", with design, sample, and
photo by Manne Liden. The funding from Stiftelsen Sunnerdahls
Handikappfond and Center for Clinical Research in Dalarna made the
research possible.
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NR 44
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1103-8128
EI 1651-2014
J9 SCAND J OCCUP THER
JI Scand. J. Occup. Ther.
PD MAY
PY 2014
VL 21
IS 3
BP 181
EP 190
DI 10.3109/11038128.2013.870225
PG 10
WC Rehabilitation
SC Rehabilitation
GA AF5JO
UT WOS:000334750000004
PM 24417452
ER
PT J
AU McCarthy, SE
McCombie, WR
Corvin, A
AF McCarthy, Shane E.
McCombie, W. Richard
Corvin, Aiden
TI Unlocking the Treasure Trove: From Genes to Schizophrenia Biology
SO SCHIZOPHRENIA BULLETIN
LA English
DT Article
DE schizophrenia; genomics; CRISPR; sequencing; model systems
ID DE-NOVO MUTATIONS; NEURODEVELOPMENTAL DISORDERS; INTELLECTUAL
DISABILITY; HUMAN-CELLS; RISK LOCI; AUTISM; SPECTRUM; PLURIPOTENCY;
NETWORKS; PARADIGM
AB Significant progress is being made in defining the genetic etiology of schizophrenia. As the list of implicated genes grows, parallel developments in gene editing technology provide new methods to investigate gene function in model systems. The confluence of these two research fields-gene discovery and functional biology-may offer novel insights into schizophrenia etiology. We review recent advances in these fields, consider the likely obstacles to progress, and consider strategies as to how these can be overcome.
C1 [McCarthy, Shane E.; McCombie, W. Richard] Cold Spring Harbor Lab, Stanley Inst Cognit Genom, Woodbury, NY USA.
[Corvin, Aiden] Univ Dublin Trinity Coll, Dept Psychiat, Dublin 2, Ireland.
[Corvin, Aiden] Univ Dublin Trinity Coll, Inst Mol Med, Neuropsychiat Genet Res Grp, Dublin 2, Ireland.
RP Corvin, A (reprint author), Univ Dublin Trinity Coll, Dept Psychiat, Dublin 2, Ireland.
EM acorvin@tcd.ie
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NR 51
TC 2
Z9 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0586-7614
EI 1745-1701
J9 SCHIZOPHRENIA BULL
JI Schizophr. Bull.
PD MAY
PY 2014
VL 40
IS 3
BP 492
EP 496
DI 10.1093/schbul/sbu042
PG 5
WC Psychiatry
SC Psychiatry
GA AF5JW
UT WOS:000334750800004
PM 24674812
ER
PT J
AU Chung, YS
Barch, D
Strube, M
AF Chung, Yu Sun
Barch, Deanna
Strube, Michael
TI A Meta-Analysis of Mentalizing Impairments in Adults With Schizophrenia
and Autism Spectrum Disorder
SO SCHIZOPHRENIA BULLETIN
LA English
DT Article
DE mentalizing; schizophrenia; autism; social cognition
ID HIGH-FUNCTIONING AUTISM; UNAFFECTED 1ST-DEGREE RELATIVES; NORMALLY
DEVELOPING-CHILDREN; ASPERGER-SYNDROME; SOCIAL COGNITION; JOINT
ATTENTION; LONGITUDINAL ASSOCIATIONS; EXECUTIVE FUNCTION; BIPOLAR
DISORDER; FALSE BELIEF
AB Mentalizing has been examined both in autism spectrum disorder (ASD) and schizophrenia (SCZ) primarily by either cognitive-linguistic (referred to as verbal) or emotion recognition from eyes (referred to as visual) mentalizing tasks. Each type of task is thought to measure different aspects of mentalizing. Differences in clinical features and developmental courses of each disorder may predict distinct patterns of mentalizing performance across disorders on each type of task. To test this, a meta-analysis was conducted using 37 studies that assessed mentalizing either verbally or visually in adults with SCZ or ASD. We found that the estimated effect sizes of impairments in verbal and visual mentalizing tasks for both clinical groups were statistically large and at a similar level (overall Hedges' g = 0.73-1.05). For each disorder, adults with SCZ showed a trend towards larger impairments on verbal (overall Hedges' g = 0.99) than on visual mentalizing task (overall Hedges' g = 0.73; Qbet = 3.45, p =. 06, df = 1). Adults with ASD did not show different levels of impairment on the verbal versus visual tasks (Qbet = 0.08, p =. 78, df = 1). These results suggest that both clinical groups share, at least in part, some common cognitive processing deficits associated with mentalizing impairments.
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[Barch, Deanna] Washington Univ, Dept Psychol Psychiat & Radiol, St Louis, MO 63130 USA.
RP Chung, YS (reprint author), Washington Univ, Dept Psychol, Campus Box 1125,One Brookings Dr, St Louis, MO 63130 USA.
EM yschung@wustl.edu
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NR 103
TC 8
Z9 8
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0586-7614
EI 1745-1701
J9 SCHIZOPHRENIA BULL
JI Schizophr. Bull.
PD MAY
PY 2014
VL 40
IS 3
BP 602
EP 616
DI 10.1093/schbul/sbt048
PG 15
WC Psychiatry
SC Psychiatry
GA AF5JW
UT WOS:000334750800019
PM 23686020
ER
PT J
AU Johnson, S
Hollis, C
Marlow, N
Simms, V
Wolke, D
AF Johnson, Samantha
Hollis, Chris
Marlow, Neil
Simms, Victoria
Wolke, Dieter
TI Screening for childhood mental health disorders using the Strengths and
Difficulties Questionnaire: the validity of multi-informant reports
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Article
ID LOW-BIRTH-WEIGHT; PSYCHIATRIC-DISORDERS; BEHAVIORAL OUTCOMES; CHILDREN
BORN; ADOLESCENTS; PRETERM; SYMPTOMS; AGE; PSYCHOPATHOLOGY; PREVALENCE
AB Aim
This study investigated the diagnostic accuracy of the Strengths and Difficulties Questionnaire (SDQ) in a population of children born extremely preterm (<26wks gestation).
Method
Parents and teachers of 219 extremely preterm children (118 females, 101 males; age 11y) were asked to complete the SDQ to screen for psychological problems. Multi-informant ratings were aggregated using two methods: combined (parent or teacher rated the child with problems) and pervasive (parent and teacher rated the child with problems). Psychiatric diagnoses were assigned using the Development and Well-Being Assessment.
Results
Pervasive ratings had the greatest diagnostic accuracy for emotional disorders (89%), conduct disorders (94%), attention-deficit-hyperactivity disorder (ADHD; 90%), and autism spectrum disorders (ASDs; 94%), but were associated with low sensitivity (<= 50%). For clinical use, combined ratings were best for detecting emotional disorders (sensitivity 77%, specificity 75%), conduct disorders (83%, 88%), and ADHD (85%, 72%). Parent ratings were best for ASDs (93%, 66%). Teacher ratings significantly improved prediction over parent ratings alone for conduct disorders ( increment chi(2)=9.3, p=0.002) and ADHD ( increment chi(2)=24.1, p<0.001) only.
Interpretation
Multi-informant data are preferable for assessing most mental health outcomes using the SDQ. As an outcome measure, pervasive ratings have the best predictive accuracy. For screening, combined ratings are best for detecting ADHD and emotional and conduct disorders. For ASDs, parent ratings were best.
C1 [Johnson, Samantha; Simms, Victoria] Univ Leicester, Dept Hlth Sci, Leicester LE1 6TP, Leics, England.
[Hollis, Chris] Univ Nottingham, Sch Med, Div Psychiat & Appl Psychol, Nottingham, England.
[Marlow, Neil] UCL, Res Dept Acad Neonatol, Inst Womens Hlth, London, England.
[Wolke, Dieter] Univ Warwick, Dept Psychol, Warwick Med Sch, Coventry CV4 7AL, W Midlands, England.
[Wolke, Dieter] Univ Warwick, Hlth Sci Res Inst, Warwick Med Sch, Coventry CV4 7AL, W Midlands, England.
RP Johnson, S (reprint author), Univ Leicester, Dept Hlth Sci, 22-28 Princess Rd West, Leicester LE1 6TP, Leics, England.
EM sjj19@le.ac.uk
RI Marlow, Neil/D-2918-2009
OI Marlow, Neil/0000-0001-5890-2953
FU Medical Research Council, UK; Department of Health's NIHR Biomedical
Research Centres funding scheme at UCLH/UCL; Action Medical Research
project grant
FX This study was funded by the Medical Research Council, UK. Neil Marlow
receives a proportion of funding from the Department of Health's NIHR
Biomedical Research Centres funding scheme at UCLH/UCL. Victoria Simms's
post was funded by an Action Medical Research project grant. We are
indebted to the schools and teachers who supported assessments and
completed questionnaires for this study, and to the children and parents
for their continued participation in the EPICure Studies. EPICure
co-investigators were Neil Marlow (UCL; Chief Investigator), Kate
Costeloe (London), Enid Hennessy (London), Janet Stocks (London), and
Elizabeth Draper (Leicester). The 11-year Developmental Group also
comprised Neil Marlow (UCL), Samantha Johnson (Leicester), Dieter Wolke
(Warwick), Chris Hollis (Nottingham), and Enid Hennessy (London).
Heather Palmer was the study manager.
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NR 29
TC 4
Z9 4
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0012-1622
EI 1469-8749
J9 DEV MED CHILD NEUROL
JI Dev. Med. Child Neurol.
PD MAY
PY 2014
VL 56
IS 5
BP 453
EP 459
DI 10.1111/dmcn.12360
PG 7
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AE7DG
UT WOS:000334156300012
PM 24410039
ER
PT J
AU Ware, TL
Earl, J
Salomons, GS
Struys, EA
Peters, HL
Howell, KB
Pitt, JJ
Freeman, JL
AF Ware, Tyson L.
Earl, John
Salomons, Gajja S.
Struys, Eduard A.
Peters, Heidi L.
Howell, Katherine B.
Pitt, James J.
Freeman, Jeremy L.
TI Typical and atypical phenotypes of PNPO deficiency with elevated CSF and
plasma pyridoxamine on treatment
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Article
ID NEONATAL EPILEPTIC ENCEPHALOPATHY; PYRIDOXINE; OXIDASE; METABOLISM;
SEIZURES
AB Pyridox(am)ine phosphate oxidase (PNPO) deficiency causes severe early infantile epileptic encephalopathy and has been characterized as responding to pyridoxal-5 '-phosphate but not to pyridoxine. Two males with PNPO deficiency and novel PNPO mutations are reported and their clinical, metabolic, and video-electroencephalographic (EEG) findings described. The first child showed electro-clinical responses to pyridoxine and deterioration when pyridoxine was withheld. At last review, he has well-controlled epilepsy with pyridoxal-5 '-phosphate monotherapy and an autism spectrum disorder. The second child had a perinatal middle cerebral artery infarct and a myoclonic encephalopathy. He failed to respond to pyridoxine but responded well to pyridoxal-5 '-phosphate. At the age of 21months he has global developmental delay and hemiparesis but is seizure-free with pyridoxal-5 '-phosphate monotherapy. Plasma and cerebrospinal fluid pyridoxamine levels were increased in both children during treatment with pyridoxine or pyridoxal-5 '-phosphate. These observations indicate that differential responses to pyridoxine and pyridoxal-5 '-phosphate treatment cannot be relied upon to diagnose PNPO deficiency.
C1 [Ware, Tyson L.; Howell, Katherine B.; Freeman, Jeremy L.] Royal Childrens Hosp, Dept Neurol, Melbourne, Vic, Australia.
[Earl, John] Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia.
[Salomons, Gajja S.; Struys, Eduard A.] Vrije Univ Amsterdam Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands.
[Peters, Heidi L.] Royal Childrens Hosp, Dept Metab Genet, Melbourne, Vic, Australia.
[Pitt, James J.] Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia.
RP Freeman, JL (reprint author), Royal Childrens Hosp, Dept Neurol, 50 Flemington Rd, Parkville, Vic 3052, Australia.
EM jeremy.freeman@rch.org.au
FU Victorian Government's Operational Infrastructure Support Program
FX The authors wish to thank Avantika Mishra for amino acid analysis and
Trent Burgess for providing the single nucleotide polymorphism
microarray results. Portions of this work were supported by the
Victorian Government's Operational Infrastructure Support Program. The
authors have stated that they had no interests which might be perceived
as posing a conflict or bias.
CR Bagci S, 2008, ARCH DIS CHILD-FETAL, V93, pF151, DOI 10.1136/adc.2006.115162
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Schmitt B, 2010, DEV MED CHILD NEUROL, V52, pe133, DOI 10.1111/j.1469-8749.2010.03660.x
NR 14
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0012-1622
EI 1469-8749
J9 DEV MED CHILD NEUROL
JI Dev. Med. Child Neurol.
PD MAY
PY 2014
VL 56
IS 5
BP 498
EP 502
DI 10.1111/dmcn.12346
PG 5
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AE7DG
UT WOS:000334156300018
PM 24266778
ER
PT J
AU Davidson, C
Greenwood, N
Stansfield, A
Wright, S
AF Davidson, Conor
Greenwood, Nick
Stansfield, Alison
Wright, Stephen
TI Prevalence of Asperger syndrome among patients of an Early Intervention
in Psychosis team
SO EARLY INTERVENTION IN PSYCHIATRY
LA English
DT Article
DE Asperger syndrome; autism; early intervention; psychosis; schizophrenia
ID AUTISM SPECTRUM DISORDERS; DIAGNOSTIC-CRITERIA; SCHIZOPHRENIA;
COMORBIDITY; ADULTS
AB BackgroundThere is a lack of systematic studies into comorbidity of Asperger syndrome and psychosis.
AimTo determine the prevalence of Asperger syndrome among patients of an early intervention in psychosis service.
MethodsThis study was a cross-sectional survey consisting of three phases: screening, case note review and diagnostic interviews. All patients on caseload (n=197) were screened using the Autism Spectrum Disorder in Adults Screening Questionnaire. The case notes of patients screened positive were then reviewed for information relevant to Asperger syndrome. Those suspected of having Asperger syndrome were invited for a diagnostic interview.
ResultsThirty patients were screened positive. Three of them already had a diagnosis of Asperger syndrome made by child and adolescent mental health services. After case note review, 13 patients were invited to interview. Four did not take part, so nine were interviewed. At interview, four were diagnosed with Asperger syndrome. In total, seven patients had Asperger syndrome. Thus, the prevalence rate in this population is at least 3.6%.
ConclusionsThe results suggest that the prevalence of Asperger syndrome in first-episode psychosis is considerably higher than that in the general population. Clinicians working in early intervention teams need to be alert to the possibility of Asperger syndrome when assessing patients.
C1 [Davidson, Conor; Greenwood, Nick; Wright, Stephen] Aspire, Leeds Early Intervent Psychosis Serv, Leeds LS85LJ, W Yorkshire, England.
[Davidson, Conor; Stansfield, Alison; Wright, Stephen] Leeds & York Partnerships NHS Fdn Trust, Leeds, W Yorkshire, England.
[Davidson, Conor] Univ Leeds, Leeds, W Yorkshire, England.
RP Davidson, C (reprint author), Aspire, Leeds Early Intervent Psychosis Serv, Bank House,Roundhay Rd, Leeds LS85LJ, W Yorkshire, England.
EM conor.davidson@nhs.net
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NR 27
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1751-7885
EI 1751-7893
J9 EARLY INTERV PSYCHIA
JI Early Interv. Psychiatry
PD MAY
PY 2014
VL 8
IS 2
BP 138
EP 146
DI 10.1111/eip.12039
PG 9
WC Psychiatry
SC Psychiatry
GA AE9RG
UT WOS:000334345800006
PM 23472601
ER
PT J
AU Thabet, EM
AF Thabet, Elsaeid M.
TI Ocular vestibular evoked myogenic potentials n10 response in autism
spectrum disorders children with auditory hypersensitivity: an indicator
of semicircular canal dehiscence
SO EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
LA English
DT Article
DE Autism spectrum disorders; Auditory hypersensitivity; oVEMP; Superior
canal dehiscence
ID BONE-CONDUCTED VIBRATION; COMPUTED-TOMOGRAPHY; VESTIBULOOCULAR REFLEX;
FZ
AB Sensitivity to sound is one of the most commonly reported challenges in ASD. No compelling evidence shows that hearing of ASD individuals differs physiologically from normal peers. Superior semicircular canal dehiscence was found to be more common in ASD children with auditory hypersensitivity (29 %) by means of high-resolution CT scan than the reported (14 %) in normal pediatric population by other investigators. The increased prevalence of radiographic dehiscence might be due to inability of CT scan to visualize immature bone. We wished to determine whether ocular vestibular evoked myogenic potentials in ASD children with auditory hypersensitivity produces similar responses to those obtained in adult superior canal dehiscence, and whether it could help differentiate radiographic dehiscence due to bone immaturity from true canal dehiscence syndrome. A prospective study on 14 ASD children complaining of auditory hypersensitivity served as the study group. 15 ASD children without auditory hypersensitivity, age and gender matched, served as a control group. oVEMP and high-resolution CT scan of petrous and temporal bone were performed to all participants. Mean amplitude of n10 was 1.83 +/- A 0.11 and 1.79 +/- A 0.09 mu V in the control group with mean peak latency of 9.79 +/- A 0.42 and 9.77 +/- A 0.30 ms for the right and left ears, respectively. Asymmetry ratio was 2.04 +/- A 1.37. In the study group, the mean amplitude of n10 was 2.07 +/- A 0.46 and 1.89 +/- A 0.30 mu V, with mean peak latency of 9.52 +/- A 0.33 and 9.59 +/- A 0.21 ms for the right and left ears, respectively, with asymmetry 5.23 +/- A 6.93 %. No statistically significant difference was observed for the studied parameters. In the study group, the number of ears showing an augmented amplitude (> 2SD) of n10 was (N = 5). Furthermore, the study group demonstrated a radiographic SSCD in 6 ears. n10 was normal in the control group while radiographic SSCD was observed in 3 of them. Conclusion: oVEMPs show diagnostic ability in differentiating ASD children complaining of auditory hypersensitivity due to superior canal dehiscence from those with radiographic dehiscence only due to bone immaturity or atypical cortical development.
C1 Mansoura Univ, ENT HNS Dept, Audiol Unit, Mansoura, Egypt.
RP Thabet, EM (reprint author), Mansoura Univ, ENT HNS Dept, Audiol Unit, Mansoura, Egypt.
EM saeed_thabet@hotmail.com
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NR 28
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0937-4477
EI 1434-4726
J9 EUR ARCH OTO-RHINO-L
JI Eur. Arch. Oto-Rhino-Laryn.
PD MAY
PY 2014
VL 271
IS 5
BP 1283
EP 1288
DI 10.1007/s00405-013-2736-1
PG 6
WC Otorhinolaryngology
SC Otorhinolaryngology
GA AF0NB
UT WOS:000334410200060
PM 24100882
ER
PT J
AU Scherff, A
Taylor, M
Eley, TC
Happe, F
Charman, T
Ronald, A
AF Scherff, Aline
Taylor, Mark
Eley, Thalia C.
Happe, Francesca
Charman, Tony
Ronald, Angelica
TI What Causes Internalising Traits and Autistic Traits to Co-occur in
Adolescence? A Community-Based Twin Study
SO JOURNAL OF ABNORMAL CHILD PSYCHOLOGY
LA English
DT Article
DE Adolescence; Autistic disorder; Comorbidity; Genetics; Internalising
disorders
ID SPECTRUM QUOTIENT AQ; DIFFICULTIES QUESTIONNAIRE; GENERAL-POPULATION;
DISORDERS; CHILDREN; STRENGTHS; ASSOCIATION; DEPRESSION; VALIDITY;
ANXIETY
AB Autism shows a high degree of comorbidity with anxiety disorders. Adolescence is a time of increased stress and vulnerability to internalising problems. This study addresses for the first time the degree of genetic and environmental overlap between autistic traits (total measure and subscales) and internalising traits in a community-based adolescent twin sample. Parents of 12-14-year-old twins (N = 3,232 pairs; 3,460 males, 3,004 females) reported on the twins' internalising and autistic traits. Autistic trait subscales were created using principal component analysis. Bivariate twin model-fitting was conducted. Autistic and internalising traits correlated moderately (r = 0.30). Genetic influences on individual traits were substantial but genetic overlap between traits was moderate (genetic correlation: males = 0.30, females = 0.12). Shared environmental influences were low for internalising traits and moderate for autistic traits, and showed considerable overlap (shared environmental correlation: males = 0.53, females = 1). Nonshared environmental influences were moderate for internalising traits and low for autistic traits and showed low overlap. A multiple component solution was found for autistic traits and of the derived subscales, autistic-like 'Social Unease' showed the most phenotypic and genetic overlap with internalising traits.
C1 [Scherff, Aline; Ronald, Angelica] Univ London, Ctr Brain & Cognit Dev, Dept Psychol Sci, London WC1E 7JL, England.
[Taylor, Mark] Univ London, Ctr Res Autism & Educ, Dept Psychol & Human Dev, Inst Educ, London WC1E 7JL, England.
[Eley, Thalia C.; Happe, Francesca] Kings Coll London, Inst Psychiat, Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England.
[Charman, Tony] Kings Coll London, Dept Psychol, Inst Psychiat, London WC2R 2LS, England.
RP Scherff, A (reprint author), Univ London, Ctr Brain & Cognit Dev, Dept Psychol Sci, 32 Torrington Sq, London WC1E 7JL, England.
EM a.scherff@psychology.bbk.ac.uk
RI Charman, Tony/A-2085-2014; Ronald, Angelica/C-7812-2009
OI Charman, Tony/0000-0003-1993-6549; Ronald, Angelica/0000-0002-9576-2176
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World Health Organization, 1992, ICD 10 CLASSIFICATIO
NR 49
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0091-0627
EI 1573-2835
J9 J ABNORM CHILD PSYCH
JI J. Abnorm. Child Psychol.
PD MAY
PY 2014
VL 42
IS 4
BP 601
EP 610
DI 10.1007/s10802-013-9796-y
PG 10
WC Psychology, Clinical; Psychology, Developmental
SC Psychology
GA AE8TI
UT WOS:000334274500008
PM 23975079
ER
PT J
AU Imaizumi, Y
Okano, H
AF Imaizumi, Yoichi
Okano, Hideyuki
TI Modeling human neurological disorders with induced pluripotent stem
cells
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Review
DE human disease model; induced pluripotent stem cells; neurological
disorders; Parkinson's disease
ID MIDBRAIN DOPAMINERGIC-NEURONS; FAMILIAL ALZHEIMERS-DISEASE;
MUSCULAR-ATROPHY PATIENT; IPSC-DERIVED NEURONS; HUNTINGTONS-DISEASE;
PARKINSONS-DISEASE; OXIDATIVE STRESS; GENE-EXPRESSION;
FUNCTIONAL-NEURONS; HUMAN FIBROBLASTS
AB Human induced pluripotent stem (iPS) cells obtained by reprogramming technology are a source of great hope, not only in terms of applications in regenerative medicine, such as cell transplantation therapy, but also for modeling human diseases and new drug development. In particular, the production of iPS cells from the somatic cells of patients with intractable diseases and their subsequent differentiation into cells at affected sites (e.g., neurons, cardiomyocytes, hepatocytes, and myocytes) has permitted the in vitro construction of disease models that contain patient-specific genetic information. For example, disease-specific iPS cells have been established from patients with neuropsychiatric disorders, including schizophrenia and autism, as well as from those with neurodegenerative diseases, including Parkinson's disease and Alzheimer's disease. A multi-omics analysis of neural cells originating from patient-derived iPS cells may thus enable investigators to elucidate the pathogenic mechanisms of neurological diseases that have heretofore been unknown. In addition, large-scale screening of chemical libraries with disease-specific iPS cells is currently underway and is expected to lead to new drug discovery. Accordingly, this review outlines the progress made via the use of patient-derived iPS cells toward the modeling of neurological disorders, the testing of existing drugs, and the discovery of new drugs.
C1 [Imaizumi, Yoichi; Okano, Hideyuki] Keio Univ, Sch Med, Dept Physiol, Tokyo 1608582, Japan.
[Imaizumi, Yoichi] Eisai & Co Ltd, Next Generat Syst CFU, Ibaraki, Japan.
RP Okano, H (reprint author), Keio Univ, Sch Med, Dept Physiol, Shinjuku Ku, 35 Shinanomachi, Tokyo 1608582, Japan.
EM hidokano@a2.keio.jp
RI Okano, Hideyuki/J-5973-2013
FU Program for Intractable Disease Research utilizing disease-specific iPS
Cells from the Japan Science and Technology Agency (JST)
FX We thank all of the members of the Okano laboratory for their
encouragement and support. This study was supported by the Program for
Intractable Disease Research utilizing disease-specific iPS Cells from
the Japan Science and Technology Agency (JST) to H.O. Dr H. Okano is a
scientific consultant for San Bio, Inc., Eisai Co., Ltd, and Daiichi
Sankyo Co., Ltd. Dr Y. Imaizumi is currently employed by Eisai Co., Ltd.
The authors have no conflict of interest to declare.
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NR 82
TC 9
Z9 9
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
EI 1471-4159
J9 J NEUROCHEM
JI J. Neurochem.
PD MAY
PY 2014
VL 129
IS 3
BP 388
EP 399
DI 10.1111/jnc.12625
PG 12
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AF1QT
UT WOS:000334489100004
PM 24286589
ER
PT J
AU Williams, K
Woolfenden, S
Roberts, J
Rodger, S
Bartak, L
Prior, M
AF Williams, Katrina
Woolfenden, Susan
Roberts, Jacqueline
Rodger, Sylvia
Bartak, Lawrence
Prior, Margot
TI Autism in context 1: Classification, counting and causes
SO JOURNAL OF PAEDIATRICS AND CHILD HEALTH
LA English
DT Review
DE international child health; behavioural; developmental
ID SPECTRUM DISORDERS; PREVALENCE; EPIDEMIOLOGY; CRITERIA
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C1 [Williams, Katrina] Royal Childrens Hosp, Melbourne, Vic, Australia.
[Williams, Katrina] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia.
[Williams, Katrina] Univ Melbourne, Murdoch Childrens Res Inst, Melbourne, Vic, Australia.
[Prior, Margot] Univ Melbourne, Melbourne, Vic, Australia.
[Bartak, Lawrence] Monash Univ, Fac Educ, Melbourne, Vic 3004, Australia.
[Woolfenden, Susan] Sydney Childrens Hosp Network, Randwick, NSW, Australia.
[Roberts, Jacqueline] Griffith Univ, Autism Ctr Excellence, Brisbane, Qld 4111, Australia.
[Rodger, Sylvia] Univ Queensland, Sch Hlth & Rehabil Sci, Brisbane, Qld, Australia.
RP Williams, K (reprint author), Royal Childrens Hosp, Flemington Rd, Parkville, Vic 3052, Australia.
EM katrina.williams@rch.org.au
RI Williams, Katrina/B-6828-2015
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NR 40
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1034-4810
EI 1440-1754
J9 J PAEDIATR CHILD H
JI J. Paediatr. Child Health
PD MAY
PY 2014
VL 50
IS 5
BP 335
EP 340
DI 10.1111/jpc.12451
PG 6
WC Pediatrics
SC Pediatrics
GA AF1EI
UT WOS:000334456800002
PM 24383615
ER
PT J
AU Williams, K
Woolfenden, S
Roberts, J
Rodger, S
Bartak, L
Prior, M
AF Williams, Katrina
Woolfenden, Susan
Roberts, Jacqueline
Rodger, Sylvia
Bartak, Lawrence
Prior, Margot
TI Autism in context 2: Assessment, intervention and services in Australia
SO JOURNAL OF PAEDIATRICS AND CHILD HEALTH
LA English
DT Review
DE behavioural; developmental; international child health
ID OPEN-LABEL TRIAL; SPECTRUM DISORDERS; DIAGNOSTIC INTERVIEW;
YOUNG-CHILDREN; THERAPY; SLEEP
AB Continuing from part 1, part 2 of the autism spectrum disorders review explores clinical practice and service delivery aspects of autism spectrum disorders including current assessment approaches in Australia, family-centred models of care, and key service structure and delivery issues. Treatments including behavioural interventions, established and emergent medication, and complementary and alternative therapies are discussed. The key role of paediatricians as both individual child and family care providers and advocates, as well as agents of service reform in Australia, is evident. Much still needs to be done.
C1 [Williams, Katrina] Royal Childrens Hosp, Melbourne, Vic, Australia.
[Williams, Katrina] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia.
[Williams, Katrina] Univ Melbourne, Murdoch Childrens Res Inst, Melbourne, Vic, Australia.
[Prior, Margot] Univ Melbourne, Melbourne, Vic, Australia.
[Bartak, Lawrence] Monash Univ, Fac Educ, Melbourne, Vic 3004, Australia.
[Woolfenden, Susan] Sydney Childrens Hosp Network, Randwick, NSW, Australia.
[Roberts, Jacqueline] Griffith Univ, Autism Ctr Excellence, Brisbane, Qld 4111, Australia.
[Rodger, Sylvia] Univ Queensland, Sch Hlth & Rehabil Sci, Brisbane, Qld, Australia.
RP Williams, K (reprint author), Royal Childrens Hosp, Flemington Rd, Parkville, Vic 3052, Australia.
EM katrina.williams@rch.org.au
RI Williams, Katrina/B-6828-2015
OI Williams, Katrina/0000-0002-1686-4458
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NR 60
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1034-4810
EI 1440-1754
J9 J PAEDIATR CHILD H
JI J. Paediatr. Child Health
PD MAY
PY 2014
VL 50
IS 5
BP 341
EP 346
DI 10.1111/jpc.12456
PG 6
WC Pediatrics
SC Pediatrics
GA AF1EI
UT WOS:000334456800003
PM 24422663
ER
PT J
AU Sidrak, S
Yoong, T
Woolfenden, S
AF Sidrak, Samuel
Yoong, Terence
Woolfenden, Susan
TI Iron deficiency in children with global developmental delay and autism
spectrum disorder
SO JOURNAL OF PAEDIATRICS AND CHILD HEALTH
LA English
DT Article
DE pervasive developmental disorder; child; autistic disorder; iron
deficiency; Australia; anaemia
ID PRESCHOOL-CHILDREN; YOUNG-CHILDREN; PREVALENCE; ANEMIA; CHILDHOOD;
DIAGNOSIS; INFANTS; SUPPLEMENTATION; PREVENTION; AUSTRALIA
AB Aim To investigate the prevalence of and risk factors for iron deficiency in children with global developmental delay and/or autism spectrum disorder (ASD). Method A retrospective review was conducted of the files of children referred to community paediatric clinics in South West Sydney from May 2009 to July 2011 who were diagnosed with global developmental delay and/or ASD. Data were extracted on iron studies and potential risk factors. Data were analysed using Pearson's divided by(2)-test and Fisher's exact test. Results Subjects included 122 children. The prevalence of iron depletion was 2.5% (95% CI 0.5-7.0%); that of iron deficiency was 6.6% (95% CI 2.9-12.5%), and that of iron deficiency anaemia was 4.1% (95% CI 1.3-9.3%). In children with global developmental delay without ASD, the prevalence of iron depletion was 1.8% (95% CI 0-9.7%), that of iron deficiency 5.5% (95% CI 1.1-15.1%) and that of iron deficiency anaemia 5.5% (95% CI 1.1-15.1%). In children with ASD with or without global developmental delay, the prevalence of iron depletion was 3.0% (95% CI 0.4-10.4%), that of iron deficiency 7.5% (95% CI 2.5-16.6%) and that of iron deficiency anaemia 3.0% (95% CI 0.4-10.4%). Univariate analysis demonstrated three significant potential risk factors for iron depletion, iron deficiency and iron deficiency anaemia: problems sucking, swallowing or chewing (P = 0.002); poor eating behaviour (P = 0.008); and inadequate amounts of meat, chicken, eggs or fish (P = 0.002). Conclusion Iron deficiency and iron deficiency anaemia were more common in this clinical sample of children with global developmental delay and/or ASD than in the general population.
C1 [Sidrak, Samuel; Yoong, Terence] Sydney & South Western Sydney Local Hlth Dist, Dept Community Paediat, Sydney, NSW, Australia.
[Woolfenden, Susan] Sydney Childrens Hosp, Sydney Childrens Community Hlth Ctr, Sydney, NSW, Australia.
RP Yoong, T (reprint author), Sydney & South Western Sydney Local Hlth Dist, Dept Community Paediat, Level 3,Hlth Serv Bldg,Cnr Campbell & Goulburn St, Liverpool, NSW 2170, Australia.
EM Terence.Yoong@sswahs.nsw.gov.au
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NR 44
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1034-4810
EI 1440-1754
J9 J PAEDIATR CHILD H
JI J. Paediatr. Child Health
PD MAY
PY 2014
VL 50
IS 5
BP 356
EP 361
DI 10.1111/jpc.12483
PG 6
WC Pediatrics
SC Pediatrics
GA AF1EI
UT WOS:000334456800006
PM 24372984
ER
PT J
AU Brock, S
AF Brock, Stuart
TI The Phenomenological Objection to Fictionalism
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NR 34
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0031-8205
EI 1933-1592
J9 PHILOS PHENOMEN RES
JI Philos. Phenomenol. Res.
PD MAY
PY 2014
VL 88
IS 3
BP 574
EP 592
DI 10.1111/phpr.12011
PG 19
WC Philosophy
SC Philosophy
GA AF3CJ
UT WOS:000334588800004
ER
PT J
AU Bekhet, AK
Zauszniewski, JA
AF Bekhet, Abir K.
Zauszniewski, Jaclene A.
TI Psychometric Properties of the Resourcefulness Scale Among Caregivers of
Persons With Autism Spectrum Disorder
SO WESTERN JOURNAL OF NURSING RESEARCH
LA English
DT Article
DE population focus behavior/symptom focus; caregivers; clinical focus;
mental health; instrument development
ID DEPRESSIVE SYMPTOMS; SOCIAL SUPPORT; CHILDREN; MOTHERS; BURDEN; WOMEN;
SCHEDULE; STRESS; ELDERS; HEALTH
AB Caregiving for children with autism spectrum disorder (ASD) can be very costly to caregivers' well-being. Resourcefulness interventions have shown increases in positive health outcomes. However, before delivering the intervention, there should be a reliable and a valid measure to test resourcefulness. The psychometric properties of the Resourcefulness Scale (RS) have not been examined among ASD caregivers. This study examined the psychometrics of the 28-item RS in a convenience sample of 204 ASD caregivers. A Cronbach's alpha of .91 showed the internal consistency of the RS. Construct validity was supported by the emergence of two dimensions of resourcefulness (personal and social) in a confirmatory factor analysis and by substantial intercorrelations between the two subscales (r = .48, p < .001). Findings suggested the reliability and validity of RS among ASD caregivers, which is a necessary step toward implementing resourcefulness interventions to help ASD caregivers to deal with their stress and improve their quality of life.
C1 [Bekhet, Abir K.] Marquette Univ, Coll Nursing, Milwaukee, WI 53233 USA.
[Zauszniewski, Jaclene A.] Case Western Reserve Univ, Cleveland, OH 44106 USA.
RP Bekhet, AK (reprint author), Marquette Univ, Coll Nursing, Clark Hall,530 N 16th St, Milwaukee, WI 53233 USA.
EM abir.bekhet@marquette.edu
FU American Psychiatric Nurses Foundation (APNF) [74614]; Marquette
University
FX The author(s) disclosed receipt of the following financial support for
the research, authorship, and/or publication of this article: The parent
studies are funded by the American Psychiatric Nurses Foundation (APNF)
Grant 74614 and by the Way Klinger Young Scholar Award from Marquette
University. Both grants were awarded to the principal investigator (Dr.
Abir K. Bekhet).
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NR 59
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0193-9459
EI 1552-8456
J9 WESTERN J NURS RES
JI West. J. Nurs. Res.
PD MAY
PY 2014
VL 36
IS 5
BP 685
EP 702
DI 10.1177/0193945913509141
PG 18
WC Nursing
SC Nursing
GA AE8ZH
UT WOS:000334291100007
PM 24151172
ER
PT J
AU Stagg, SD
Linnell, KJ
Heaton, P
AF Stagg, Steven D.
Linnell, Karina J.
Heaton, Pamela
TI Investigating eye movement patterns, language, and social ability in
children with autism spectrum disorder
SO DEVELOPMENT AND PSYCHOPATHOLOGY
LA English
DT Article
ID ASPERGER-SYNDROME; DIAGNOSTIC INTERVIEW; FACE RECOGNITION; 1ST YEAR;
ATTENTION; GAZE; INDIVIDUALS; BEHAVIOR; COMPETENCE; CAREGIVERS
AB Although all intellectually high-functioning children with autism spectrum disorder (ASD) display core social and communication deficits, some develop language within a normative timescale and others experience significant delays and subsequent language impairment. Early attention to social stimuli plays an important role in the emergence of language, and reduced attention to faces has been documented in infants later diagnosed with ASD. We investigated the extent to which patterns of attention to social stimuli would differentiate early and late language onset groups. Children with ASD (mean age = 10 years) differing on language onset timing (late/normal) and a typically developing comparison group completed a task in which visual attention to interacting and noninteracting human figures was mapped using eye tracking. Correlations on visual attention data and results from tests measuring current social and language ability were conducted. Patterns of visual attention did not distinguish typically developing children and ASD children with normal language onset. Children with ASD and late language onset showed significantly reduced attention to salient social stimuli. Associations between current language ability and social attention were observed. Delay in language onset is associated with current language skills as well as with specific eye-tracking patterns.
C1 [Stagg, Steven D.] Anglia Ruskin Univ, Cambridge CB1 1PT, England.
[Linnell, Karina J.; Heaton, Pamela] Univ London, London WC1E 7HU, England.
RP Stagg, SD (reprint author), Anglia Ruskin Univ, Dept Psychol, East Rd, Cambridge CB1 1PT, England.
EM steven.stagg@anglia.ac.uk
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 52
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0954-5794
EI 1469-2198
J9 DEV PSYCHOPATHOL
JI Dev. Psychopathol.
PD MAY
PY 2014
VL 26
IS 2
BP 529
EP 537
DI 10.1017/S0954579414000108
PG 9
WC Psychology, Developmental
SC Psychology
GA AE5RS
UT WOS:000334047100017
PM 24622054
ER
PT J
AU Cauda, F
Costa, T
Palermo, S
D'Agata, F
Diano, M
Bianco, F
Duca, S
Keller, R
AF Cauda, Franco
Costa, Tommaso
Palermo, Sara
D'Agata, Federico
Diano, Matteo
Bianco, Francesca
Duca, Sergio
Keller, Roberto
TI Concordance of white matter and gray matter abnormalities in autism
spectrum disorders: A voxel-based meta-analysis study
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE DTI; white matter changes; VBM; gray matter changes; ALE meta-analysis;
autism spectrum disorder
ID HIGH-FUNCTIONING AUTISM; LIKELIHOOD ESTIMATION METAANALYSIS;
OBSESSIVE-COMPULSIVE DISORDER; MIRROR-NEURON SYSTEM; HUMAN
CEREBRAL-CORTEX; ALZHEIMERS-DISEASE; CORTICAL THICKNESS;
ASPERGERS-SYNDROME; HUMAN BRAIN; FRACTIONAL ANISOTROPY
AB There are at least two fundamental unanswered questions in the literature on autism spectrum disorders (ASD): Are abnormalities in white (WM) and gray matter (GM) consistent with one another? Are WM morphometric alterations consistent with alterations in the GM of regions connected by these abnormal WM bundles and vice versa? The aim of this work is to bridge this gap. After selecting voxel-based morphometry and diffusion tensor imaging studies comparing autistic and normally developing groups of subjects, we conducted an activation likelihood estimation (ALE) meta-analysis to estimate consistent brain alterations in ASD. Multidimensional scaling was used to test the similarity of the results. The ALE results were then analyzed to identify the regions of concordance between GM and WM areas. We found statistically significant topological relationships between GM and WM abnormalities in ASD. The most numerous were negative concordances, found bilaterally but with a higher prevalence in the right hemisphere. Positive concordances were found in the left hemisphere. Discordances reflected the spatial distribution of negative concordances. Thus, a different hemispheric contribution emerged, possibly related to pathogenetic factors affecting the right hemisphere during early developmental stages. Besides, WM fiber tracts linking the brain structures involved in social cognition showed abnormalities, and most of them had a negative concordance with the connected GM regions. We interpreted the results in terms of altered brain networks and their role in the pervasive symptoms dramatically impairing communication and social skills in ASD patients. Hum Brain Mapp 35:2073-2098, 2014. (c) 2013 Wiley Periodicals, Inc.
C1 [Cauda, Franco; D'Agata, Federico; Diano, Matteo; Duca, Sergio] Koelliker Hosp, CCS fMRI, Turin, Italy.
[Cauda, Franco; Costa, Tommaso; Palermo, Sara; D'Agata, Federico; Diano, Matteo] Univ Turin, Dept Psychol, I-10123 Turin, Italy.
[Bianco, Francesca; Keller, Roberto] ASL To2, Adult Autism Ctr, Turin, Italy.
RP Cauda, F (reprint author), Univ Turin, Dept Psychol, Via Po 14, I-10123 Turin, Italy.
EM franco.cauda@unito.it
RI Cauda, Franco /G-5021-2010
OI Cauda, Franco /0000-0003-1526-8475
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Waiter GD, 2005, NEUROIMAGE, V24, P455, DOI 10.1016/j.neuroimage.2004.08.049
Xu L, 2009, NEUROIMAGE, V44, P777, DOI 10.1016/j.neuroimage.2008.09.051
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NR 119
TC 4
Z9 4
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1065-9471
EI 1097-0193
J9 HUM BRAIN MAPP
JI Hum. Brain Mapp.
PD MAY
PY 2014
VL 35
IS 5
BP 2073
EP 2098
DI 10.1002/hbm.22313
PG 26
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AE5FB
UT WOS:000334012100021
PM 23894001
ER
PT J
AU Pride, NA
Korgaonkar, MS
Barton, B
Payne, JM
Vucic, S
North, KN
AF Pride, Natalie A.
Korgaonkar, Mayuresh S.
Barton, Belinda
Payne, Jonathan M.
Vucic, Steve
North, Kathryn N.
TI The genetic and neuroanatomical basis of social dysfunction: Lessons
from neurofibromatosis type 1
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE social cognition; voxel-based morphometry; neurofibromatosis 1; emotion
perception; theory of mind
ID SUPERIOR TEMPORAL SULCUS; BRAIN ABNORMALITIES; FACIAL EXPRESSIONS; FACE
PERCEPTION; HUMAN AMYGDALA; CHILDREN; AUTISM; COGNITION; GYRUS;
ADOLESCENTS
AB Neurofibromatosis type 1 (NF1) is a common genetic condition associated with cognitive and social dysfunction as well as abnormal brain structure. The pathophysiology underlying social dysfunction in NF1 is poorly understood. Here, we investigate for the first time whether there is a broad deficit of social cognition in NF1 and explore the neural correlates for these deficits. Twenty-nine adults with NF1 and 30 controls were administered an ecologically based test of social cognition, The Awareness of Social Inference Test (TASIT), to identify deficits in emotion recognition and sarcasm detection. We employed voxel-based morphometry in a subset of NF1 patients (n = 16) and 16 additional controls to examine the neural correlates of these deficits. Results indicated that adults with NF1 were impaired in their ability to understand paradoxical sarcasm and their capacity to recognize emotion, particularly anger. TASIT performance was not associated with measures of attention, visuospatial skills or executive function. Relative to controls, gray matter (GM) volume within the right superior temporal gyrus (STG) was decreased, after controlling for total brain volume. Decreased volume in this region was significantly associated with social cognitive deficits in adults with NF1. We conclude that patients with NF1 are at high risk for a social cognitive deficit and provide evidence for a neuroanatomical basis for this deficit; GM volumetric reductions in the right STG. These findings improve our understanding of the nature of social interaction impairments in NF1 and add to the growing body of literature indicating the STG as a critical brain region for social cognition. Hum Brain Mapp 35:2372-2382, 2014. (c) 2013 Wiley Periodicals, Inc.
C1 [Pride, Natalie A.; Payne, Jonathan M.; North, Kathryn N.] Sydney Childrens Hosp Network, Inst Neurosci & Muscle Res, Westmead, NSW 2145, Australia.
[Pride, Natalie A.; Barton, Belinda; Payne, Jonathan M.; North, Kathryn N.] Univ Sydney, Discipline Paediat & Child Hlth, Fac Med, Sydney, NSW 2006, Australia.
[Korgaonkar, Mayuresh S.] Westmead Millennium Inst, Brain Dynam Ctr, Sydney, NSW, Australia.
[Korgaonkar, Mayuresh S.] Univ Sydney, Sch Med, Sydney, NSW 2006, Australia.
[Korgaonkar, Mayuresh S.] Univ Sydney, Westmead Hosp, Discipline Psychiat, Med Sch Western, Sydney, NSW 2006, Australia.
[Barton, Belinda] Sydney Childrens Hosp Network, Childrens Hosp Educ Res Inst, Sydney, NSW, Australia.
[Vucic, Steve] Univ Sydney, Western Clin Sch, Sydney, NSW 2006, Australia.
[North, Kathryn N.] Murdoch Childrens Res Inst, Melbourne, Vic, Australia.
RP North, KN (reprint author), Murdoch Childrens Res Inst, Flemington Rd, Parkville, Vic 3052, Australia.
EM Natalie.Pride@health.nsw.gov.au; Kathryn.North@mcri.edu.au
RI North, Kathryn/K-6476-2012
OI North, Kathryn/0000-0003-0841-8009
FU Sherman Fellowship in Neurofibromatosis 1 Research, Australia
FX Contract grant sponsor: Sherman Fellowship in Neurofibromatosis 1
Research, Australia
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NR 63
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1065-9471
EI 1097-0193
J9 HUM BRAIN MAPP
JI Hum. Brain Mapp.
PD MAY
PY 2014
VL 35
IS 5
BP 2372
EP 2382
DI 10.1002/hbm.22334
PG 11
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AE5FB
UT WOS:000334012100041
PM 23881898
ER
PT J
AU Limeres, J
Martinez, F
Feijoo, JF
Ramos, I
Linares, A
Diz, P
AF Limeres, J.
Martinez, F.
Feijoo, J. F.
Ramos, I.
Linares, A.
Diz, P.
TI A new indicator of the oral hygiene habits of disabled persons:
relevance of the carer's personal appearance and interest in oral health
SO INTERNATIONAL JOURNAL OF DENTAL HYGIENE
LA English
DT Article
DE oral hygiene habits; motivation; disability; dental hygiene
ID CHILDREN; ATTITUDES; PARENTS; AUTISM; DISABILITIES; KNOWLEDGE; BEHAVIOR;
ADULTS
AB Objective
To investigate whether there is a relationship between the oral hygiene habits of individuals with severe disability the carer's personal appearance and interest in oral health.
Patients and methods
The study group was formed of 60 disabled persons and their respective carers who came for the first time to consultation in the Special-Needs Dentistry Unit of the University of Santiago de Compostela, Spain. All the carers answered a standardised questionnaire of 28 questions divided into four sections: disabled individual's demographic data, disabled individual's general medical details, social aspects of the carer (personal appearance of the carer and interest in oral health), and disabled individual's oral hygiene habits. The personal appearance of the carers and their interest in the disabled individual's oral health were evaluated using independent scales designed specifically for the study, with five binary items in each scale.
Results
The carer's personal appearance and interest in the disabled individual's oral health showed a statistically significant relationship with the individual's oral hygiene habits, particularly with respect to the frequency and duration of toothbrushing, need for physical restraint during toothbrushing, use of a manual toothbrush and use of toothpaste.
Conclusions
The carer's personal appearance and interest in the disabled individual's oral health are good indicators of the oral hygiene habits of an individual with severe disability. Consideration should be given to the inclusion of these aspects as a complementary element of the dental record.
C1 [Limeres, J.; Martinez, F.; Feijoo, J. F.; Ramos, I.; Linares, A.; Diz, P.] Univ Santiago de Compostela, Sch Med & Dent, Grp Invest Odontol Med Quirurg OMEQUI, Santiago De Compostela 15782, A Coruna, Spain.
RP Limeres, J (reprint author), Univ Santiago de Compostela, Sch Med & Dent, Grp Invest Odontol Med Quirurg OMEQUI, C Entrerrios Sn, Santiago De Compostela 15782, A Coruna, Spain.
EM jacobo.limeres@usc.es
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NR 26
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1601-5029
EI 1601-5037
J9 INT J DENT HYG
JI Int. J. Dent. Hyg.
PD MAY
PY 2014
VL 12
IS 2
BP 121
EP 126
DI 10.1111/idh.12033
PG 6
WC Dentistry, Oral Surgery & Medicine
SC Dentistry, Oral Surgery & Medicine
GA AE4BG
UT WOS:000333922500009
PM 23730898
ER
PT J
AU Hampshire, PK
Butera, GD
Dustin, TJ
AF Hampshire, Patricia Korzekwa
Butera, Gretchen D.
Dustin, Timothy J.
TI Promoting Homework Independence for Students With Autism Spectrum
Disorders
SO INTERVENTION IN SCHOOL AND CLINIC
LA English
DT Article
DE disabilities; parents; family/families; autism; involvement;
partnerships with professionals; self-management/regulation
ID SELF-MANAGEMENT; CHILDREN; INVOLVEMENT; PERFORMANCE; PREFERENCE;
ATTENTION; ACCURACY; BEHAVIOR
AB For students with autism, homework time may be especially challenging due to problems in self-organization and difficulties generalizing skills from one setting to another. Although often problematic, homework can provide a valuable context for teaching organizational skills that become essential as students become more independent. By learning to self-manage, students develop a set of skills necessary for self-determination. This article describes the process for developing an intervention plan for students who may be struggling to complete homework successfully.
C1 [Hampshire, Patricia Korzekwa] Boise State Univ, Boise, ID 83725 USA.
[Butera, Gretchen D.] Indiana Univ, Bloomington, IN USA.
[Dustin, Timothy J.] St Josephs Orphanage Villa Acad, Cincinnati, OH USA.
RP Hampshire, PK (reprint author), Boise State Univ, Dept Special Educ & Early Childhood Studies, MS 1725, Boise, ID 83725 USA.
EM patriciahampshire@boisestate.edu
CR Adams L., 2004, FOCUS AUTISM OTHER D, V19, P87, DOI DOI 10.1177/10883576040190020301
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Bryant R., 1999, RURAL SPECIAL ED Q, V18, P5
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Hampshire P. K., 2011, THESIS INDIANA U BLO
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Xu JZ, 2010, J EDUC RES, V103, P171, DOI 10.1080/00220670903382939
NR 27
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1053-4512
EI 1538-4810
J9 INTERV SCH CLIN
JI Interv. Sch. Clin.
PD MAY
PY 2014
VL 49
IS 5
BP 290
EP 297
DI 10.1177/1053451213513955
PG 8
WC Education, Special
SC Education & Educational Research
GA AE5KQ
UT WOS:000334028300004
ER
PT J
AU Larsson, H
Sariaslan, A
Langstrom, N
D'Onofrio, B
Lichtenstein, P
AF Larsson, Henrik
Sariaslan, Amir
Langstroem, Niklas
D'Onofrio, Brian
Lichtenstein, Paul
TI Family income in early childhood and subsequent attention
deficit/hyperactivity disorder: a quasi-experimental study
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE causality; family income; ADHD; quasi-experimental approaches; childhood
ID DEFICIT HYPERACTIVITY DISORDER; TELEPHONE INTERVIEW; BEHAVIOR PROBLEMS;
AUTISM-TICS; DSM-IV; A-TAC; ADHD; ADVERSITY; ASSOCIATION; CHILDREN
AB Background
Studies have found negative associations between socioeconomic position and attention deficit/hyperactivity disorder (ADHD), but it remains unclear if this association is causal.The aim of this study was to determine the extent to which the association between family income in early childhood and subsequent ADHD depends on measured and unmeasured selection factors.
Methods
A total of 811,803 individuals born in Sweden between 1992 and 2000 were included in this nationwide population-based cohort study. Diagnosis of ADHD was assessed via the Swedish national Patient Register and the Swedish Prescribed Drug Register. Annual family income during offspring's first 5years in life was collected prospectively from the Swedish Integrated Database for Labour Market Research and divided into quartiles by (lower) family disposable income. We predicted ADHD from family income while controlling for covariates and also comparing differently exposed cousins and siblings to control for unmeasured familial confounding.
Results
The crude analyses suggested that children exposed to lower income levels were at increased risk for ADHD (HRQuartile1=2.52; 95% CI, 2.42-2.63; HRQuartile2=1.52; 95% CI, 1.45-1.58; HRQuartile3=1.20; 95% CI, 1.14-1.15). This dose-dependent association decreased after adjustment for measured covariates (HRQuartile1=2.09; 95% CI, 2.00-2.19; HRQuartile2=1.36; 95% CI, 1.30-1.42; HRQuartile3=1.13; 95% CI, 1.08-1.18). Although the association was attenuated in cousin comparisons (HRQuartile1=1.61; 95% CI, 1.40-1.84; HRQuartile2=1.28; 95% CI, 1.12-1.45; HRQuartile3=1.14; 95% CI, 1.01-1.28) and sibling comparison models (HRQuartile1=1.37; 95% CI, 1.07-1.75; HRQuartile2=1.37; 95% CI, 1.12-1.68; HRQuartile3=1.23; 95% CI, 1.04-1.45), it remained statistically significant across all levels of decreased disposable family income.
Conclusions
Our results indicated that low family income in early childhood was associated with increased likelihood of ADHD. The link remained even after controlling for unmeasured selection factors, highlighting family income in early childhood as a marker of causal factors for ADHD.
C1 [Larsson, Henrik; Sariaslan, Amir; Langstroem, Niklas; Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden.
[D'Onofrio, Brian] Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN USA.
RP Larsson, H (reprint author), Karolinska Inst, Dept Med Epidemiol & Biostat, POB 281, SE-17177 Stockholm, Sweden.
EM Henrik.Larsson@ki.se
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World Health Organization, 1992, INT CLASS DIS
NR 36
TC 7
Z9 7
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9630
EI 1469-7610
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD MAY
PY 2014
VL 55
IS 5
BP 428
EP 435
DI 10.1111/jcpp.12140
PG 8
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AE2QA
UT WOS:000333816800003
PM 24111650
ER
PT J
AU Anderson, DK
Liang, JW
Lord, C
AF Anderson, Deborah K.
Liang, Jessie W.
Lord, Catherine
TI Predicting young adult outcome among more and less cognitively able
individuals with autism spectrum disorders
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Very Positive Outcome; ASD; longitudinal; Autism; adult outcome
ID DIAGNOSTIC-OBSERVATION-SCHEDULE; REVISED ALGORITHMS; FOLLOW-UP;
CHILDREN; ABILITIES; ADOLESCENCE; CHILDHOOD; PATTERNS; AVERAGE; GROWTH
AB Background The range of outcomes for young adults with Autism Spectrum Disorders (ASD) and the early childhood factors associated with this diversity have implications for clinicians and scientists. Methods This prospective study provided a unique opportunity to predict outcome 17years later for a relatively large sample of children diagnosed with ASD at 2 years old. Diagnostic and psychometric instruments were administered between 2 and 19 with data from 2, 3, and 19 included in this study. Clinicians administered tests without knowledge of previous assessments whenever possible. Caregivers provided additional information through questionnaires. Results Significant intellectual disabilities at 19 were predicted by age 2 about 85% of the time from VIQ and NVIQ scores together, though prediction of young adult outcome for youths with average or higher intelligence was more complex. By 19, 9% of participants had largely overcome core difficulties associated with ASD and no longer retained a diagnosis. These youths with Very Positive Outcomes were more likely to have participated in treatment and had a greater reduction in repetitive behaviors between age 2 and 3 compared to other Cognitively Able youths (VIQ >= 70) with ASD. Very Positive Outcome youths did not differ phenotypically from Cognitively Able ASD individuals at 2 but both groups differed from Cognitively Less Able individuals (VIQ <70). Conclusion Those most at risk for intellectual disabilities and ASD can be reliably identified at an early age to receive comprehensive treatment. Findings also suggest that some cognitively able children with ASD who participate in early intervention have very positive outcomes, although replication with randomized, larger samples is needed. In order to improve understanding of very positive outcomes in ASD, future research will need to identify how variations in child characteristics and environmental factors contribute to the nature and timing of growth across individuals and areas of development.
C1 [Anderson, Deborah K.; Lord, Catherine] Weill Cornell Med Coll, CADB, White Plains, NY USA.
[Liang, Jessie W.] Univ Denver, Grad Sch Social Work, Denver, CO USA.
RP Anderson, DK (reprint author), Univ Michagan, Ctr Comprehens Canc, Clin Trials Complex,North Campus Res Complex, Ann Arbor, MI 48109 USA.
EM debcarl87@gmail.com
FU National Institute of Mental Health [MH081873]; National Institute of
Child Health and Human Development [U 19 HD 035482]; Autism Speaks
FX This work was supported by grants from the National Institute of Mental
Health (MH081873), the National Institute of Child Health and Human
Development (U 19 HD 035482), and Autism Speaks (dated 11 January 2008)
to C. L. The funding sources played no role in the writing of the
manuscript or the decision to submit it for publication, including study
design, recruitment of the sample, or the collection, analysis and
interpretation of the data. The authors were not paid by a
pharmaceutical company to write this article. The authors had full
access to all of the data in the study as well as the final
responsibility for the decision to submit for publication.
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NR 43
TC 7
Z9 8
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9630
EI 1469-7610
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD MAY
PY 2014
VL 55
IS 5
BP 485
EP 494
DI 10.1111/jcpp.12178
PG 10
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AE2QA
UT WOS:000333816800010
PM 24313878
ER
PT J
AU Mok, PLH
Pickles, A
Durkin, K
Conti-Ramsden, G
AF Mok, Pearl L. H.
Pickles, Andrew
Durkin, Kevin
Conti-Ramsden, Gina
TI Longitudinal trajectories of peer relations in children with specific
language impairment
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE peer relations; developmental trajectories; prosocial behaviour;
pragmatic language impairment; autistic symptomatology; Specific
language impairment
ID RANDOMIZED CONTROLLED-TRIAL; AUTISM SPECTRUM DISORDER; SOCIAL-BEHAVIOR;
SLI; ADOLESCENTS; HISTORY; DIFFICULTIES; QUESTIONNAIRE; PREVALENCE;
OUTCOMES
AB Background
Peer relations is a vulnerable area of functioning in children with specific language impairment (SLI), but little is known about the developmental trajectories of individuals.
Methods
Peer problems were investigated over a 9-year period (from 7 to 16years of age) in 171 children with a history of SLI. Discrete factor growth modelling was used to chart developmental trajectories. Multinomial logistic regression analysis was conducted to investigate factors associated with group membership.
Results
Four distinct developmental trajectories were identified: low-level/no problems in peer relations (22.2% of participants), childhood-limited problems (12.3%), childhood-onset persistent problems (39.2%) and adolescent-onset problems (26.3%). Risk of poor trajectories of peer relations was greater for those children with pragmatic language difficulties. Prosocial behaviour was the factor most strongly associated with trajectory group membership. Overall, the more prosocial children with better pragmatic language skills and lower levels of emotional problems had less difficulty in developing peer relations.
Conclusions
Analysis of developmental trajectories enriches our understanding of social development. A sizeable minority in the present sample sustained positive relations through childhood and adolescence, and others overcame early difficulties to achieve low levels of problems by their early teens; the majority, however, showed childhood-onset persistent or adolescent-onset problems.
C1 [Mok, Pearl L. H.; Conti-Ramsden, Gina] Univ Manchester, Manchester M13 9PL, Lancs, England.
[Pickles, Andrew] Kings Coll London, London WC2R 2LS, England.
[Durkin, Kevin] Univ Strathclyde, Glasgow, Lanark, Scotland.
RP Conti-Ramsden, G (reprint author), Univ Manchester, Sch Psychol Sci, Ellen Wilkinson Bldg,Oxford Rd, Manchester M13 9PL, Lancs, England.
EM gina.conti-ramsden@manchester.ac.uk
RI Pickles, Andrew/A-9625-2011
OI Pickles, Andrew/0000-0003-1283-0346
FU Economic and Social Research Council [RES-062-23-2745]; Nuffield
Foundation [AT251[OD], DIR/28, EDU 8366, EDU 32083]; Wellcome Trust
[060774]; Medical Research Council [G0802307]
FX The authors acknowledge the support of the Economic and Social Research
Council (grant RES-062-23-2745). We also acknowledge the support of the
Nuffield Foundation for grants AT251[OD], DIR/28, EDU 8366 and EDU 32083
and the Wellcome Trust for grant 060774 which supported the data
collection. A. P. additionally received funding from the Medical
Research Council (G0802307). The authors have declared that they have no
competing or potential conflicts of interest. The authors thank all the
families that have participated in the study and the research assistants
who helped with data gathering.
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NR 61
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9630
EI 1469-7610
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD MAY
PY 2014
VL 55
IS 5
BP 516
EP 527
DI 10.1111/jcpp.12190
PG 12
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AE2QA
UT WOS:000333816800013
PM 24410167
ER
PT J
AU Gatto, CL
Pereira, D
Broadie, K
AF Gatto, Cheryl L.
Pereira, Daniel
Broadie, Kendal
TI GABAergic circuit dysfunction in the Drosophila Fragile X syndrome model
SO NEUROBIOLOGY OF DISEASE
LA English
DT Article
DE Fragile X mental retardation protein (FMRP); Mushroom Body; Glutamic
acid decarboxylase; Synapse; Calcium signaling; Associative learning
ID MENTAL-RETARDATION PROTEIN; LONG-TERM-MEMORY; MUSHROOM BODY NEURONS;
KNOCKOUT MOUSE MODEL; CELL MARKER MARCM; GABA(A) RECEPTOR; ADULT
DROSOPHILA; TEMPORAL REQUIREMENTS; SIGNALING COMPONENTS; SYNAPTIC
STRUCTURE
AB Fragile X syndrome (FXS), caused by loss of FMR1 gene function, is the most common heritable cause of intellectual disability and autism spectrum disorders. The FMR1 protein (FMRP) translational regulator mediates activity-dependent control of synapses. In addition to the metabotropic glutamate receptor (mGluR) hyperexcitation FXS theory, the GABA theory postulates that hypoinhibition is causative for disease state symptoms. Here, we use the Drosophila FXS model to assay central brain GABAergic circuitry, especially within the Mushroom Body (MB) learning center. All 3 GABA(A) receptor (GABA(A)R) subunits are reportedly downregulated in dfmr1 null brains. We demonstrate parallel downregulation of glutamic acid decarboxylase (GAD), the rate-limiting GABA synthesis enzyme, although GABAergic cell numbers appear unaffected. Mosaic analysis with a repressible cell marker (MARCM) single-cell clonal studies show that dfmr1 null GABAergic neurons innervating the MB calyx display altered architectural development, with early underdevelopment followed by later overelaboration. In addition, a new class of extra-calyx terminating GABAergic neurons is shown to include MB intrinsic alpha/beta Kenyon Cells (KCs), revealing a novel level of MB inhibitory regulation. Functionally, dfmr1 null GABAergic neurons exhibit elevated calcium signaling and altered kinetics in response to acute depolarization. latest the role of these GABAergic changes, we attempted to pharmacologically restore GABAergic signaling and assay effects on the compromised MB-dependent olfactory learning in dfmr1 mutants, but found no improvement Our results show that GABAergic circuit structure and function are impaired in the FXS disease state, but that correction of hypoinhibition alone is not sufficient to rescue a behavioral learning impairment (C) 2014 Elsevier Inc. All rights reserved.
C1 Vanderbilt Univ, Dept Biol Sci, Nashville, TN 37232 USA.
Vanderbilt Univ, Dept Cell & Dev Biol, Nashville, TN 37232 USA.
Vanderbilt Univ, Kennedy Ctr Res Human Dev, Nashville, TN 37203 USA.
RP Broadie, K (reprint author), 6270A MRB 3,465 21st Ave South,PMB 35-1634, Nashville, TN 37232 USA.
EM kendal.broadie@vanderbilt.edu
FU NIH [R01 MH084989]
FX We are grateful to Terry Page for expert guidance in olfactory learning
experiments. We thank generous donors of key reagents: dfmr1<SUP>2</SUP>
from Thomas Dockendorff (University of Tennessee, Knoxville, TN),
GAD-Gal4 from Gero Misenbock (University of Oxford, Oxford, UK), and
anti-GAD from F. Rob Jackson (Tufts University, Boston, MA). We also
thank Broadie Lab members, especially Caleb Doll, Neil Dani, William
Parkinson, and Emma Rushton for insightful discussions on the study and
critical feedback during manuscript preparation, He Zhu for assistance
with time-lapse data management and Eriny Hanna for continued
experimental interest. This work was supported by the NIH R01 MH084989
to K.B.
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NR 89
TC 4
Z9 4
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0969-9961
EI 1095-953X
J9 NEUROBIOL DIS
JI Neurobiol. Dis.
PD MAY
PY 2014
VL 65
BP 142
EP 159
DI 10.1016/j.nbd.2014.01.008
PG 18
WC Neurosciences
SC Neurosciences & Neurology
GA AD8WL
UT WOS:000333546300014
PM 24423648
ER
PT J
AU Stenberg, N
Bresnahan, M
Gunnes, N
Hirtz, D
Hornig, M
Lie, KK
Lipkin, WI
Lord, C
Magnus, P
Reichborn-Kjennerud, T
Schjolberg, S
Suren, P
Susser, E
Svendsen, BK
von Tetzchner, S
Oyen, AS
Stoltenberg, C
AF Stenberg, Nina
Bresnahan, Michaeline
Gunnes, Nina
Hirtz, Deborah
Hornig, Mady
Lie, Kari Kveim
Lipkin, W. Ian
Lord, Catherine
Magnus, Per
Reichborn-Kjennerud, Ted
Schjolberg, Synnve
Suren, Pal
Susser, Ezra
Svendsen, Britt Kveim
von Tetzchner, Stephen
Oyen, Anne-Siri
Stoltenberg, Camilla
TI Identifying Children with Autism Spectrum Disorder at 18 Months in a
General Population Sample
SO PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
LA English
DT Article
DE Norwegian Mother and Child Cohort Study; early identification; Autism
Birth Cohort Study; longitudinal studies; M-CHAT; autism spectrum
disorders
ID PERVASIVE DEVELOPMENTAL DISORDERS; MODIFIED CHECKLIST; SCREENING
INSTRUMENT; EARLY RECOGNITION; TODDLERS; AGE; DIAGNOSIS; COHORT; 1ST;
SIGNS
AB Background
Previous research on clinical and high-risk samples suggests that signs of autism spectrum disorder (ASD) can be detected between 1 and 2 years of age. We investigated signs of ASD at 18 months in a population-based sample and the association with later ASD diagnosis.
Methods
The study sample includes 52 026 children born 2003 through 2008 and is a subset of children that participated in the Norwegian Mother and Child Cohort (MoBa), a population-based longitudinal study, and the Autism Birth Cohort (ABC), a sub-study on ASD. Parents completed all 23 items from the Modified Checklist for Autism in Toddlers (M-CHAT) at 18 months.
Results
The M-CHAT 6-critical-item criterion and the 23-item criterion had a specificity of 97.9% and 92.7% and a sensitivity of 20.8% and 34.1%, respectively. In the 173 children diagnosed with ASD to date, 60 children (34.7%) scored above the cut-off on either of the screening criteria. The items with the highest likelihood ratios were 'interest in other children', 'show objects to others' and 'response to name'.
Conclusion
Even though one-third of the children who later received an ASD diagnosis were identified through M-CHAT items, the majority scored below cut-off on the screening criteria at 18 months. The results imply that it might not be possible to detect all children with ASD at this age.
C1 [Stenberg, Nina; Gunnes, Nina; Lie, Kari Kveim; Magnus, Per; Reichborn-Kjennerud, Ted; Schjolberg, Synnve; Suren, Pal; Oyen, Anne-Siri; Stoltenberg, Camilla] Norwegian Inst Publ Hlth, N-0403 Oslo, Norway.
[Bresnahan, Michaeline; Hornig, Mady; Lipkin, W. Ian; Susser, Ezra] Columbia Univ, Mailman Sch Publ Hlth, New York, NY USA.
[von Tetzchner, Stephen] Univ Oslo, Inst Psychol, Oslo, Norway.
[Susser, Ezra] New York State Psychiat Inst & Hosp, New York, NY 10032 USA.
[Hornig, Mady; Lipkin, W. Ian] Columbia Univ, Ctr Infect & Immun, New York, NY USA.
[Svendsen, Britt Kveim; Oyen, Anne-Siri] Lovisenberg Hosp, Nic Waals Inst, Oslo, Norway.
[Hirtz, Deborah] NINDS, NIH, Bethesda, MD 20892 USA.
[Lord, Catherine] New York Presbyterian Hosp, Weill Cornell Med Coll, Inst Brain Dev, New York, NY USA.
[Lord, Catherine] Columbia Univ, Med Ctr, New York, NY USA.
[Stoltenberg, Camilla] Univ Bergen, Dept Global Publ Hlth & Primary Care, Bergen, Norway.
[Reichborn-Kjennerud, Ted] Univ Oslo, Inst Psychiat, Oslo, Norway.
RP Stenberg, N (reprint author), Norwegian Inst Publ Hlth, POB 4404 Nydalen, N-0403 Oslo, Norway.
EM nist@fhi.no
FU Norwegian Ministry of Health and Care Services; Norwegian Ministry of
Education and Research; Research Council of Norway/FUGE [151918];
National Institute of Neurological Disorders and Stroke (NIH/NINDS),
Bethesda, MD, USA [NS47537]; National Institute of Environmental Health
Sciences (NIH/NIEHS), Research Triangle Park, NC, USA [NO-ES-75558];
National Institute of Neurological Disorders and Stroke, (NIH/NINDS),
Bethesda, MD, USA [NS47537]; Norwegian Research Council [196452]
FX The authors would like to acknowledge and thank all participating
families. The Norwegian Mother and Child Cohort Study is funded by the
Norwegian Ministry of Health and Care Services, the Norwegian Ministry
of Education and Research, the Research Council of Norway/FUGE (grant
no. 151918), the National Institute of Neurological Disorders and Stroke
(NIH/NINDS), Bethesda, MD, USA (grant no. NS47537) and the National
Institute of Environmental Health Sciences (NIH/NIEHS), Research
Triangle Park, NC, USA (contract no. NO-ES-75558). The Autism Birth
Cohort study is funded by the National Institute of Neurological
Disorders and Stroke, (NIH/NINDS), Bethesda, MD, USA (grant no.
NS47537). The present study was supported by a grant from the Norwegian
Research Council (grant no. 196452).
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NR 42
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0269-5022
EI 1365-3016
J9 PAEDIATR PERINAT EP
JI Paediatr. Perinat. Epidemiol.
PD MAY
PY 2014
VL 28
IS 3
BP 255
EP 262
DI 10.1111/ppe.12114
PG 8
WC Public, Environmental & Occupational Health; Obstetrics & Gynecology;
Pediatrics
SC Public, Environmental & Occupational Health; Obstetrics & Gynecology;
Pediatrics
GA AE2KH
UT WOS:000333801300009
PM 24547686
ER
PT J
AU Ikeda, E
Hinckson, E
Krageloh, C
AF Ikeda, Erika
Hinckson, Erica
Kraegeloh, Chris
TI Assessment of quality of life in children and youth with autism spectrum
disorder: a critical review
SO QUALITY OF LIFE RESEARCH
LA English
DT Review
DE Adolescents; Autism; Health-related quality of life; Paediatric;
Self-report; Social Functioning
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; HIGH-FUNCTIONING AUTISM;
HEALTH UTILITIES INDEX; ASPERGER-SYNDROME; ADOLESCENTS; RELIABILITY;
QUESTIONNAIRE; METAANALYSIS; INSTRUMENTS; CHALLENGES
AB To review the use of quality of life (QOL) measures utilised in children and youth with autism spectrum disorder (ASD).
Relevant articles were identified through database searches using MEDLINE, CINAHL Plus with Full Text and SPORTDiscus with Full Text via EBSCO Health Database, PsycINFO and ProQuest Health and Medicine (from 2000 to May 2013). Original research articles were included that measured QOL in children and youth with ASD aged 5-20 years. Searches were limited to articles from peer-reviewed journals, in English or German, and those available in full text.
The search identified 1,165 titles and 13 met the inclusion criteria. The review identified a number of QOL measures used in children and youth with ASD, with the most common one being the Pediatric Quality of Life Inventory (TM) (PedsQL). QOL measures using self-reports were uncommon, and the reliability and validity of QOL measures were not sufficiently reported for this population. Large discrepancies in QOL scores were found between self-reports and proxy-reports. Despite the differences in study design and methodological quality, there was consistency in the results among studies; children and youth with ASD provided lower QOL scores, particularly for social domains, compared to their healthy counterparts.
The PedsQL is likely to be an appropriate QOL measure for use in children and youth with ASD. Future research should focus on examining the appropriateness, reliability and validity of QOL self-reports for use in this population.
C1 [Ikeda, Erika; Hinckson, Erica; Kraegeloh, Chris] Auckland Univ Technol, Fac Hlth & Environm Sci, Auckland 1142, New Zealand.
RP Hinckson, E (reprint author), Auckland Univ Technol, Fac Hlth & Environm Sci, Private Bag 92006, Auckland 1142, New Zealand.
EM erica.hinckson@aut.ac.nz
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World Health Organization, 2012, PROGR MENT HLTH WHOQ
NR 52
TC 3
Z9 3
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0962-9343
EI 1573-2649
J9 QUAL LIFE RES
JI Qual. Life Res.
PD MAY
PY 2014
VL 23
IS 4
BP 1069
EP 1085
DI 10.1007/s11136-013-0591-6
PG 17
WC Health Care Sciences & Services; Health Policy & Services; Public,
Environmental & Occupational Health
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health
GA AD6SK
UT WOS:000333391000005
PM 24310317
ER
PT J
AU Wood, BK
Drogan, RR
Janney, DM
AF Wood, Brenna K.
Drogan, Robin R.
Janney, Donna M.
TI Early Childhood Practitioner Involvement in Functional Behavioral
Assessment and Function-Based Interventions: A Literature Review
SO TOPICS IN EARLY CHILDHOOD SPECIAL EDUCATION
LA English
DT Article
DE functional behavioral assessment; function-based interventions; early
childhood; challenging behavior; teacher involvement
ID CHALLENGING BEHAVIOR; TREATMENT INTEGRITY; YOUNG-CHILDREN; EXTINCTION;
KNOWLEDGE; SETTINGS; AUTISM; FUTURE
AB Reviewers analyzed studies published from 1990 to 2012 to determine early childhood practitioner involvement in functional behavioral assessment (FBA) and function-based behavioral intervention plans (BIP) for children with challenging behavior, age 6 and younger. Coding of 30 studies included practitioner involvement in FBA and BIP processes, training received to conduct FBAs and implement BIPs, and social validity and treatment integrity data. Findings indicate that early childhood practitioners had a limited role in FBAs and BIPs. Practitioner training occurred more often for the BIP than for the FBA. Approximately one fourth of the studies included a description of practitioners in a collaborative role with researchers during the FBA, and approximately one-half during the BIP process, even though practitioners implemented the BIP in the majority of studies reviewed. More than one half of the studies included social validity and/or treatment integrity measures.
C1 [Wood, Brenna K.; Drogan, Robin R.] Lehigh Univ, Bethlehem, PA 18015 USA.
[Janney, Donna M.] Towson Univ, Towson, MD USA.
RP Wood, BK (reprint author), Lehigh Univ, Dept Educ & Human Serv, 111 Res Dr, Bethlehem, PA 18015 USA.
EM bkw209@lehigh.edu
CR Bambara L., 2005, INDIVIDUALIZED SUPPO
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Wood BK, 2009, TOP EARLY CHILD SPEC, V29, P68, DOI 10.1177/0271121409337951
NR 35
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0271-1214
EI 1538-4845
J9 TOP EARLY CHILD SPEC
JI Top. Early Child. Spec. Educ.
PD MAY
PY 2014
VL 34
IS 1
BP 16
EP 26
DI 10.1177/0271121413489736
PG 11
WC Education, Special
SC Education & Educational Research
GA AE2PZ
UT WOS:000333816700002
ER
PT J
AU Fettig, A
Barton, EE
AF Fettig, Angel
Barton, Erin E.
TI Parent Implementation of Function-Based Intervention to Reduce
Children's Challenging Behavior: A Literature Review
SO TOPICS IN EARLY CHILDHOOD SPECIAL EDUCATION
LA English
DT Article
DE collaboration; families; challenging behaviors; intervention strategies
ID YOUNG-CHILDREN; SOCIAL COMPETENCE; SUPPORT; AUTISM; MODEL; PERSPECTIVES;
PREVENTION; TODDLERS; STUDENTS
AB The purpose of this literature review was to analyze the research on parent-implemented functional assessment (FA)-based interventions for reducing children's challenging behaviors. Thirteen studies met the review inclusion criteria. These studies were analyzed across independent variables, types of parent coaching and support provided, measurement of implementation and intervention fidelity, child dependent variables, social validity, and study rigor. Overall, the evidence provide some support that parents can be trained to implement FA-based interventions with follow-up coaching and support, and these interventions reduce children's challenging behaviors and increase children's use of appropriate behaviors. However, inadequacies in study rigor and reporting of the implementation and intervention fidelity limit interpretations. Implications for practice and future research are discussed.
C1 [Fettig, Angel] Univ Massachusetts, Boston, MA 02125 USA.
[Barton, Erin E.] Vanderbilt Univ, Nashville, TN 37235 USA.
RP Fettig, A (reprint author), Univ Massachusetts, Dept Curriculum & Instruct, 100 Morrissey Blvd, Boston, MA 02125 USA.
EM angel.fettig@umb.edu
CR Albin R. W., 1996, POSITIVE BEHAV SUPPO, P81
Barton E. E., 2013, J EARLY INTERVENTION
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Carr EG, 2002, J POSIT BEHAV INTERV, V4, P4, DOI 10.1177/109830070200400102
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Wood BK, 2009, TOP EARLY CHILD SPEC, V29, P68, DOI 10.1177/0271121409337951
NR 52
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0271-1214
EI 1538-4845
J9 TOP EARLY CHILD SPEC
JI Top. Early Child. Spec. Educ.
PD MAY
PY 2014
VL 34
IS 1
BP 49
EP 61
DI 10.1177/0271121413513037
PG 13
WC Education, Special
SC Education & Educational Research
GA AE2PZ
UT WOS:000333816700005
ER
PT J
AU Fu, RR
Wang, H
AF Fu, Rongrong
Wang, Hong
TI DETECTION OF DRIVING FATIGUE BY USING NONCONTACT EMG AND ECG SIGNALS
MEASUREMENT SYSTEM
SO INTERNATIONAL JOURNAL OF NEURAL SYSTEMS
LA English
DT Article
DE Driver fatigue; sensor; EMG; ECG; Mahalanobis distance
ID INDEPENDENT COMPONENT ANALYSIS; FUNCTION NEURAL-NETWORK; EEG-BASED
DIAGNOSIS; FUZZY SYNCHRONIZATION LIKELIHOOD; WAVELET-CHAOS METHODOLOGY;
AUTISM SPECTRUM DISORDER; WORK ZONE CAPACITY; INCIDENT-DETECTION;
SEIZURE DETECTION; DRIVER FATIGUE
AB Driver fatigue can be detected by constructing a discriminant mode using some features obtained from physiological signals. There exist two major challenges of this kind of methods. One is how to collect physiological signals from subjects while they are driving without any interruption. The other is to find features of physiological signals that are of corresponding change with the loss of attention caused by driver fatigue. Driving fatigue is detected based on the study of surface electromyography (EMG) and electrocardiograph (ECG) during the driving period. The noncontact data acquisition system was used to collect physiological signals from the biceps femoris of each subject to tackle the first challenge. Fast independent component analysis (FastICA) and digital filter were utilized to process the original signals. Based on the statistical analysis results given by Kolmogorov-Smirnov Z test, the peak factor of EMG (p < 0.001) and the maximum of the cross-relation curve of EMG and ECG (p < 0.001) were selected as the combined characteristic to detect fatigue of drivers. The discriminant criterion of fatigue was obtained from the training samples by using Mahalanobis distance, and then the average classification accuracy was given by 10-fold cross-validation. The results showed that the method proposed in this paper can give well performance in distinguishing the normal state and fatigue state. The noncontact, onboard vehicle drivers' fatigue detection system was developed to reduce fatigue-related risks.
C1 [Fu, Rongrong; Wang, Hong] Northeastern Univ, Sch Mech Engn & Automat, Lab Biomechatron Engn, Shenyang 110189, Peoples R China.
RP Wang, H (reprint author), Northeastern Univ, Sch Mech Engn & Automat, Lab Biomechatron Engn, Shenyang 110189, Peoples R China.
EM hgwang@mail.neu.edu.cn
FU Natural Science Foundation of China [61071057]; Fundamental Research
Funds for the Central Universities of China [N100603003]
FX This work was supported by Natural Science Foundation of China (Project
No. 61071057) and Fundamental Research Funds for the Central
Universities of China (Project No. N100603003). The author would like to
thank Dr. Shalini Puwar, Dr. Wenbo Zhao and Dr. Morteza Delgir for
helpful discussions about the manuscript. In addition, the authors would
like to thank the reviewers and the editor, whose inputs significantly
improved this manuscript.
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NR 80
TC 2
Z9 2
PU WORLD SCIENTIFIC PUBL CO PTE LTD
PI SINGAPORE
PA 5 TOH TUCK LINK, SINGAPORE 596224, SINGAPORE
SN 0129-0657
EI 1793-6462
J9 INT J NEURAL SYST
JI Int. J. Neural Syst.
PD MAY
PY 2014
VL 24
IS 3
AR 1450006
DI 10.1142/S0129065714500063
PG 15
WC Computer Science, Artificial Intelligence
SC Computer Science
GA AB8LE
UT WOS:000332040900005
PM 24552510
ER
PT J
AU Owen, JP
Chang, YS
Pojman, NJ
Bukshpun, P
Wakahiro, MLJ
Marco, EJ
Berman, JI
Spiro, JE
Chung, WK
Buckner, RL
Roberts, TPL
Nagarajan, SS
Sherr, EH
Mukherjee, P
AF Owen, Julia P.
Chang, Yi Shin
Pojman, Nicholas J.
Bukshpun, Polina
Wakahiro, Mari L. J.
Marco, Elysa J.
Berman, Jeffrey I.
Spiro, John E.
Chung, Wendy K.
Buckner, Randy L.
Roberts, Timothy P. L.
Nagarajan, Srikantan S.
Sherr, Elliott H.
Mukherjee, Pratik
CA Simons VIP Consortium
TI Aberrant White Matter Microstructure in Children with 16p11.2 Deletions
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE autism; copy number variants; diffusion tensor imaging; genetics;
magnetic resonance imaging; neurodevelopmental disorders
ID AUTISM SPECTRUM DISORDER; BRAIN MATURATION; DIFFUSION; PHENOTYPES;
DOSAGE
AB Copy number variants (CNVs) of the chromosomal locus 16p11.2, consisting of either deletions or duplications, have been implicated in autism, schizophrenia, epilepsy, and other neuropsychiatric disorders. Since abnormal white matter microstructure can be seen in these more broadly defined clinical disorders, we used diffusion magnetic resonance imaging and tract-based spatial statistics to investigate white matter microstructural integrity in human children with 16p11.2 deletions. We show that deletion carriers, compared with typically developing matched controls, have increased axial diffusivity (AD) in many major central white matter tracts, including the anterior corpus callosum as well as bilateral internal and external capsules. Higher AD correlated with lower nonverbal IQ in the deletion carriers, but not controls. Increases in fractional anisotropy and mean diffusivity were also found in some of the same tracts with elevated AD. Closer examination with neurite orientation dispersion and density imaging revealed that fiber orientation dispersion was decreased in some central white matter tracts. Notably, these alterations of white matter are unlike microstructural differences reported for any other neurodevelopmental disorders, including autism spectrum disorders that have phenotypic overlap with the deletion carriers. These findings suggest that deletion of the 16p11.2 locus is associated with a unique widespread pattern of aberrant white matter microstructure that may underlie the impaired cognition characteristic of this CNV.
C1 [Owen, Julia P.; Chang, Yi Shin; Nagarajan, Srikantan S.; Mukherjee, Pratik] Univ Calif San Francisco, Dept Radiol & Biomed Imaging, San Francisco, CA 94107 USA.
[Owen, Julia P.; Nagarajan, Srikantan S.; Mukherjee, Pratik] Univ Calif San Francisco, Bioengn Program, San Francisco, CA 94158 USA.
[Pojman, Nicholas J.; Bukshpun, Polina; Wakahiro, Mari L. J.; Marco, Elysa J.; Sherr, Elliott H.] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USA.
[Berman, Jeffrey I.; Roberts, Timothy P. L.] Childrens Hosp Philadelphia, Dept Radiol, Philadelphia, PA 19104 USA.
[Spiro, John E.] Simons Fdn, New York, NY 10010 USA.
[Chung, Wendy K.] Columbia Univ, Dept Pediat, Med Ctr, New York, NY 10032 USA.
[Chung, Wendy K.] Columbia Univ, Dept Med, Med Ctr, New York, NY 10032 USA.
[Buckner, Randy L.] Harvard Univ, Ctr Brain Sci, Cambridge, MA 02138 USA.
RP Mukherjee, P (reprint author), Univ Calif San Francisco, Dept Radiol & Biomed Imaging, Ctr Mol & Funct Imaging, UCSF Box 0946,185 Berry St,Suite 350, San Francisco, CA 94107 USA.
EM pratik.mukherjee@ucsf.edu
FU Simons Foundation [Simons Foundation Autism Research Initiative (SFARI)]
[220843]
FX This work was supported by a grant from the Simons Foundation [Simons
Foundation Autism Research Initiative (SFARI) Award # 220843 to E.H.S.].
We are grateful to all of the families at the participating Simons
Variation in Individuals Project (Simons VIP) sites, as well as the
Simons VIP working group (Simons VIP Consortium, 2012). We appreciate
obtaining access to phenotypic data on SFARI Base.
CR Barnea-Goraly N, 2003, AM J PSYCHIAT, V160, P1863, DOI 10.1176/appi.ajp.160.10.1863
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NR 33
TC 3
Z9 4
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD APR 30
PY 2014
VL 34
IS 18
BP 6214
EP 6223
DI 10.1523/JNEUROSCI.4495-13.2014
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AH2AA
UT WOS:000335921900011
PM 24790192
ER
PT J
AU Nakajima, M
Nishikawa, C
Miyasaka, Y
Kikkawa, Y
Mori, H
Tsuruta, M
Okuyama, S
Furukawa, Y
AF Nakajima, Mitsunari
Nishikawa, Chisa
Miyasaka, Yuki
Kikkawa, Yoshiaki
Mori, Hisamichi
Tsuruta, Momoko
Okuyama, Satoshi
Furukawa, Yoshiko
TI Dilation of the inferior colliculus and hypersensitivity to sound in
Wnt1-cre and Wnt1-GAL4 double-transgenic mice
SO NEUROSCIENCE LETTERS
LA English
DT Article
DE Animal model; Wnt1-cre; Psychiatric disorder
ID WILLIAMS-SYNDROME; CRE RECOMBINASE; NEURAL CREST; HEARING-LOSS;
ABNORMALITIES; BEHAVIOR; AUTISM
AB The processing of sound information is mediated by the cochlea and the central auditory system. Among the central auditory system, the inferior colliculus (IC) has leading roles in the acoustic processing. In a previous study, we demonstrated psychiatric disorder-related behavioral abnormalities in a genetically modified animal of Wnt1-cre and Wnt1-GAL4 double-transgenic (dTg) mouse. Here we report an abnormal morphology of the IC and dysacusis in the dTg mice. The IC in the brain of the dTg mice is dilated in appearance and histologic analysis revealed a high cell-density in the IC. Also, the dTg mice showed high scores in a startle response test using a click box that emits a 20-kHz sound. Auditory brainstem response (ABR) test revealed lower ABR thresholds of the dTg mice at a test-stimulus frequency of 32 kHz, but not at 4-16 kHz. These findings suggest that the dTg mice could be a useful animal model for studying the physiologic function of the IC and the pathophysiology of psychiatric disorder-related dysacusis. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Nakajima, Mitsunari; Nishikawa, Chisa; Mori, Hisamichi; Tsuruta, Momoko; Okuyama, Satoshi; Furukawa, Yoshiko] Matsuyama Univ, Coll Pharmaceut Sci, Sch Clin Pharm, Dept Pharmaceut Pharmacol, Matsuyama, Ehime 7908578, Japan.
[Miyasaka, Yuki; Kikkawa, Yoshiaki] Tokyo Metropolitan Inst Med Sci, Mammalian Genet Project, Setagaya Ku, Tokyo 1568506, Japan.
[Miyasaka, Yuki] Niigata Univ, Grad Sch Med & Dent Sci, Niigata 9518510, Japan.
RP Nakajima, M (reprint author), Matsuyama Univ, Coll Pharmaceut Sci, Sch Clin Pharm, Dept Pharmaceut Pharmacol, 4-2 Bunkyo Cho, Matsuyama, Ehime 7908578, Japan.
EM mnakajim@cc.matsuyama-u.ac.jp
FU JSPS KAKENHI Grant [25461567]
FX We thank K. Kamiya and K. Ikeda in Juntendo University School of
Medicine for helpful discussion. This work was supported by JSPS KAKENHI
Grant number 25461567. The authors declare no competing financial
interests. Author contributions: M.N., Y.K., and Y.F. designed the
research; C.N., Y.M., H.M., M.T., and S.O. performed the research; M.N.,
Y.K., and Y.F. wrote the manuscript.
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NR 22
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0304-3940
EI 1872-7972
J9 NEUROSCI LETT
JI Neurosci. Lett.
PD APR 30
PY 2014
VL 566
BP 236
EP 240
DI 10.1016/j.neulet.2014.02.061
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA AG7QV
UT WOS:000335613800047
PM 24607930
ER
PT J
AU Gupta, AR
Pirruccello, M
Cheng, F
Kang, HJ
Fernandez, TV
Baskin, JM
Choi, M
Liu, L
Ercan-Sencicek, AG
Murdoch, JD
Klei, L
Neale, BM
Franjic, D
Daly, MJ
Lifton, RP
De Camilli, P
Zhao, HY
Sestan, N
State, MW
AF Gupta, Abha R.
Pirruccello, Michelle
Cheng, Feng
Kang, Hyo Jung
Fernandez, Thomas V.
Baskin, Jeremy M.
Choi, Murim
Liu, Li
Ercan-Sencicek, Adife Gulhan
Murdoch, John D.
Klei, Lambertus
Neale, Benjamin M.
Franjic, Daniel
Daly, Mark J.
Lifton, Richard P.
De Camilli, Pietro
Zhao, Hongyu
Sestan, Nenad
State, Matthew W.
TI Rare deleterious mutations of the gene EFR3A in autism spectrum
disorders
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorder; Genetics; Rare variants; EFR3A; Synapse;
Phosphoinositide metabolism
ID DE-NOVO MUTATIONS; PLASMA-MEMBRANE; TUBEROUS-SCLEROSIS; ROLLING
BLACKOUT; EVOLUTION; IDENTITY; COMPLEX; IMPACT; REGION; EXOMES
AB Background: Whole-exome sequencing studies in autism spectrum disorder (ASD) have identified de novo mutations in novel candidate genes, including the synaptic gene Eighty-five Requiring 3A (EFR3A). EFR3A is a critical component of a protein complex required for the synthesis of the phosphoinositide PtdIns4P, which has a variety of functions at the neural synapse. We hypothesized that deleterious mutations in EFR3A would be significantly associated with ASD.
Methods: We conducted a large case/control association study by deep resequencing and analysis of whole-exome data for coding and splice site variants in EFR3A. We determined the potential impact of these variants on protein structure and function by a variety of conservation measures and analysis of the Saccharomyces cerevisiae Efr3 crystal structure. We also analyzed the expression pattern of EFR3A in human brain tissue.
Results: Rare nonsynonymous mutations in EFR3A were more common among cases (16 / 2,196 = 0.73%) than matched controls (12 / 3,389 = 0.35%) and were statistically more common at conserved nucleotides based on an experiment-wide significance threshold (P = 0.0077, permutation test). Crystal structure analysis revealed that mutations likely to be deleterious were also statistically more common in cases than controls (P = 0.017, Fisher exact test). Furthermore, EFR3A is expressed in cortical neurons, including pyramidal neurons, during human fetal brain development in a pattern consistent with ASD-related genes, and it is strongly co-expressed (P < 2.2 x 10-16, Wilcoxon test) with a module of genes significantly associated with ASD.
Conclusions: Rare deleterious mutations in EFR3A were found to be associated with ASD using an experiment-wide significance threshold. Synaptic phosphoinositide metabolism has been strongly implicated in syndromic forms of ASD. These data for EFR3A strengthen the evidence for the involvement of this pathway in idiopathic autism.
C1 [Gupta, Abha R.] Yale Sch Med, Dept Pediat, New Haven, CT 06520 USA.
[Gupta, Abha R.; Fernandez, Thomas V.] Yale Sch Med, Ctr Child Study, New Haven, CT 06520 USA.
[Pirruccello, Michelle] Scholar Rock LLC, Cambridge, MA 02142 USA.
[Cheng, Feng; Kang, Hyo Jung; Franjic, Daniel; Sestan, Nenad] Yale Sch Med, Kavli Inst Neurosci, Dept Neurobiol, New Haven, CT 06520 USA.
[Cheng, Feng] Univ S Florida, Coll Pharm, Tampa, FL 33612 USA.
[Kang, Hyo Jung] Chung Ang Univ, Dept Life Sci, Seoul 156756, South Korea.
[Fernandez, Thomas V.] Yale Sch Med, Dept Psychiat, New Haven, CT 06520 USA.
[Baskin, Jeremy M.; De Camilli, Pietro] Yale Sch Med, Howard Hughes Med Inst, Dept Cell Biol, Program Cellular Neurosci Neurodegenerat & Repair, New Haven, CT 06520 USA.
[Choi, Murim; Lifton, Richard P.] Yale Sch Med, Howard Hughes Med Inst, Dept Genet, New Haven, CT 06520 USA.
[Liu, Li] Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA.
[Ercan-Sencicek, Adife Gulhan] Yale Sch Med, Ctr Child Study, Program Neurogenet, New Haven, CT 06520 USA.
[Murdoch, John D.] Yale Sch Med, Ctr Child Study, Dept Genet, Dept Psychiat,Program Neurogenet, New Haven, CT 06520 USA.
[Klei, Lambertus] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15213 USA.
[Neale, Benjamin M.; Daly, Mark J.] Harvard & MIT, Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA.
[Zhao, Hongyu] Yale Sch Med, Dept Biostat, New Haven, CT 06520 USA.
[Zhao, Hongyu] Yale Sch Med, Dept Genet, New Haven, CT 06520 USA.
[State, Matthew W.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA 94143 USA.
RP Gupta, AR (reprint author), Yale Sch Med, Dept Pediat, New Haven, CT 06520 USA.
EM abha.gupta@yale.edu; matthew.state@ucsf.edu
RI Liu, Li/G-1897-2015
FU National Institutes of Health [K08MH087639, K99HL11134001, R01MH089208,
R37NS036251, R01GM59507, U01MH081896, R01MH081754-04, RC2MH089956]; Jane
Coffin Childs Fund; Howard Hughes Medical Institute; James S McDonnell
Foundation Scholar Award; Simons Foundation
FX We are very grateful to all of the families participating in the cohorts
described in this paper. We thank the members of the AASC for
whole-exome sequencing data and Weizhen Ji for providing the NE control
samples. We greatly appreciate the expertise of Karin Reinisch and
Xudong Wu in analyzing the EFR3A human mutations using their Efr3
crystal structure. We thank Bernie Devlin, Kenneth Kidd, and Ellen J
Hoffman for helpful discussions and Gordon T Ober, Michael F Walker,
Nicholas M DiLullo and Cynthia A Zerillo for technical assistance. This
work was supported by the National Institutes of Health (grants
K08MH087639 to ARG, K99HL11134001 to MC, R01MH089208 to MJD, R37NS036251
to PDC, R01GM59507 to HZ, U01MH081896 to NS, R01MH081754-04 and
RC2MH089956 to MWS), the Jane Coffin Childs Fund (JMB), the Howard
Hughes Medical Institute (RPL), the James S McDonnell Foundation Scholar
Award (NS) and the Simons Foundation (PDC and MWS).
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NR 42
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD APR 29
PY 2014
VL 5
AR 31
DI 10.1186/2040-2392-5-31
PG 14
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AI2IU
UT WOS:000336681900001
PM 24860643
ER
PT J
AU Leitner, Y
AF Leitner, Yael
TI The co-occurrence of autism and attention deficit hyperactivity disorder
in children - what do we know?
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Review
DE autistic spectrum disorders; attention deficit hyperactivity disorder;
diagnostic and statistical manual; co-morbidity; co-occurrence
ID PERVASIVE DEVELOPMENTAL DISORDERS; RANDOMIZED CLINICAL-TRIAL;
DEFICIT/HYPERACTIVITY-DISORDER; SPECTRUM DISORDERS; FOLLOW-UP;
SOCIAL-COMMUNICATION; ADHD; BEHAVIOR; SYMPTOMS; TRAITS
AB Symptoms of attention deficit hyperactivity disorder (ADHD) and autistic spectrum disorder (ASD) often co-occur. The DSM-IV had specified that an ASD diagnosis is an exclusion criterion for ADHD, thereby limiting research of this common clinical co-occurrence. As neurodevelopmental disorders, both ASD and ADHD share some phenotypic similarities, but are characterized by distinct diagnostic criteria. The present review will examine the frequency and implications of this clinical co-occurrence in children, with an emphasis on the available data regarding pre-school age. The review will highlight possible etiologies explaining it, and suggest future research directions necessary to enhance our understanding of both etiology and therapeutic interventions, in light of the new DSM-V criteria, allowing for a dual diagnosis.
C1 [Leitner, Yael] Dana Dwek Childrens Hosp, Tel Aviv Sourasky Med Ctr, Child Dev Ctr, IL-6423906 Tel Aviv, Israel.
[Leitner, Yael] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel.
RP Leitner, Y (reprint author), Dana Dwek Childrens Hosp, Tel Aviv Sourasky Med Ctr, Child Dev Ctr, Weitzman St 6, IL-6423906 Tel Aviv, Israel.
EM leitnery@tlvmc.gov.il
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NR 74
TC 6
Z9 6
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD APR 29
PY 2014
VL 8
AR 268
DI 10.3389/fnhum.2014.00268
PG 8
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AH4JG
UT WOS:000336092600001
PM 24808851
ER
PT J
AU Puscian, A
Leski, S
Gorkiewicz, T
Meyza, K
Lipp, HP
Knapska, E
AF Puscian, Alicja
Leski, Szymon
Gorkiewicz, Tomasz
Meyza, Ksenia
Lipp, Hans-Peter
Knapska, Ewelina
TI A novel automated behavioral test battery assessing cognitive rigidity
in two genetic mouse models of autism
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE autism; perseveration; cognitive rigidity; valproate mouse model;
IntelliCages; automatic behavioral tests
ID CIRCADIAN-RHYTHM; HISTONE DEACETYLASE; SODIUM VALPROATE; ANIMAL-MODEL;
MICE; MELATONIN; CHILDREN; EXPOSURE; DEFICITS; CORTEX
AB Repetitive behaviors are a key feature of many pervasive developmental disorders, such as autism. As a heterogeneous group of symptoms, repetitive behaviors are conceptualized into two main subgroups: sensory/motor (lower-order) and cognitive rigidity (higher-order). Although lower-order repetitive behaviors are measured in mouse models in several paradigms, so far there have been no high-throughput tests directly measuring cognitive rigidity. We describe a novel approach for monitoring repetitive behaviors during reversal learning in mice in the automated IntelliCage system. During the reward-motivated place preference reversal learning, designed to assess cognitive abilities of mice, visits to the previously rewarded places were recorded to measure cognitive flexibility. Thereafter, emotional flexibility was assessed by measuring conditioned fear extinction. Additionally, to look for neuronal correlates of cognitive impairments, we measured CA3-CA1 hippocampal long term potentiation (LIP). To standardize the designed tests we used C57BL/6 and BALB/c mice, representing two genetic backgrounds, for induction of autism by prenatal exposure to the sodium valproate. We found impairments of place learning related to perseveration and no LIP impairments in C57BL/6 valproate-treated mice. In contrast, BALB/c valproate-treated mice displayed severe deficits of place learning not associated with perseverative behaviors and accompanied by hippocampal LIP impairments. Alterations of cognitive flexibility observed in C57BL/6 valproate-treated mice were related to neither restricted exploration pattern nor to emotional flexibility. Altogether, we showed that the designed tests of cognitive performance and perseverative behaviors are efficient and highly replicable. Moreover, the results suggest that genetic background is crucial for the behavioral effects of prenatal valproate treatment.
C1 [Puscian, Alicja; Leski, Szymon; Gorkiewicz, Tomasz; Meyza, Ksenia; Knapska, Ewelina] M Nencki Inst Expt Biol, Dept Neurophysiol, PL-02093 Warsaw, Poland.
[Lipp, Hans-Peter] Univ Zurich, Inst Anat, Div Funct Neuroanat, Zurich, Switzerland.
[Lipp, Hans-Peter] Kwazulu Natal Univ, Dept Physiol, Sch Lab Med, Durban, South Africa.
RP Knapska, E (reprint author), Nencki Inst Expt Biol PAS, Neurobiol Emot Lab, Dept Neurophysiol, Pasteur 3, PL-02093 Warsaw, Poland.
EM e.knapska@nencki.gov.pl
FU Switzerland through the Swiss Contribution to the enlarged European
Union [PSPB-210/2010]; Foundation for Polish Science [HOMING
PLUS/2012-6/6]
FX This work was supported by a grant from Switzerland through the Swiss
Contribution to the enlarged European Union (PSPB-210/2010 to Ewelina
Knapska and Hans-Peter Lipp) and Ksenia Meyza was supported by the
Foundation for Polish Science (HOMING PLUS/2012-6/6). We are thankful to
Leszek Kaczmarek for critical reading the previous version of the
manuscript and Agata Romanowska-Lasek for excellent technical
assistance.
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NR 36
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5153
J9 FRONT BEHAV NEUROSCI
JI Front. Behav. Neurosci.
PD APR 29
PY 2014
VL 8
AR 140
DI 10.3389/fnbeh.2014.00140
PG 11
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AG0UL
UT WOS:000335131000001
PM 24808839
ER
PT J
AU Alabdali, A
Al-Ayadhi, L
El-Ansary, A
AF Alabdali, Altaf
Al-Ayadhi, Laila
El-Ansary, Afaf
TI A key role for an impaired detoxification mechanism in the etiology and
severity of autism spectrum disorders
SO BEHAVIORAL AND BRAIN FUNCTIONS
LA English
DT Article
DE Autism Spectrum Disorder; Social Responsiveness Scale (SRS); Childhood
Autism Rating Scale (CARS); Lead; Mercury; Glutathione-s-transferase;
Vitamin E
ID VS. NEUROTYPICAL CHILDREN; LEAD-EXPOSURE; SAUDI-ARABIA; BLOOD LEAD;
VITAMIN-E; MERCURY; ASSOCIATION; BIOMARKERS; EXPRESSION; PATHWAYS
AB Background: Autism Spectrum Disorders (ASD) is a syndrome with a number of etiologies and different mechanisms that lead to abnormal development. The identification of autism biomarkers in patients with different degrees of clinical presentation (i.e., mild, moderate and severe) will give greater insight into the pathogenesis of this disease and will enable effective early diagnostic strategies and treatments for this disorder.
Methods: In this study, the concentration of two toxic heavy metals, lead (Pb) and mercury (Hg), were measured in red blood cells, while glutathione-s-transferase (GST) and vitamin E, as enzymatic and non-enzymatic antioxidants, respectively, were measured in the plasma of subgroups of autistic patients with different Social Responsiveness Scale (SRS) and Childhood Autism Rating Scale (CARS) scores. The results were compared to age- and gender-matched healthy controls.
Results: The obtained data showed that the patients with autism spectrum disorder had significantly higher Pb and Hg levels and lower GST activity and vitamin E concentrations compared with the controls. The levels of heavy metals (Hg and Pb), GST and vitamin E were correlated with the severity of the social and cognitive impairment measures (SRS and CARS). Receiver Operating Characteristics (ROC) analysis and predictiveness curves indicated that the four parameters show satisfactory sensitivity, very high specificity and excellent predictiveness. Multiple regression analyses confirmed that higher levels of Hg and Pb, together with lower levels of GST and vitamin E, can be used to predict social and cognitive impairment in patients with autism spectrum disorders.
Conclusion: This study confirms earlier studies that implicate toxic metal accumulation as a consequence of impaired detoxification in autism and provides insight into the etiological mechanism of autism.
C1 [Alabdali, Altaf; El-Ansary, Afaf] King Saud Univ, Coll Sci, Dept Biochem, Riyadh 11495, Saudi Arabia.
[Al-Ayadhi, Laila; El-Ansary, Afaf] Autism Res & Treatment Ctr, Riyadh, Saudi Arabia.
[Al-Ayadhi, Laila; El-Ansary, Afaf] King Saud Univ, Shaik AL Amodi Autism Res Chair, Riyadh 11495, Saudi Arabia.
[Al-Ayadhi, Laila] King Saud Univ, Fac Med, Dept Physiol, Riyadh 11495, Saudi Arabia.
[El-Ansary, Afaf] Natl Res Ctr, Dept Med Chem, Cairo, Egypt.
RP El-Ansary, A (reprint author), King Saud Univ, Coll Sci, Dept Biochem, POB 22452, Riyadh 11495, Saudi Arabia.
EM elansary@ksu.edu.sa
FU research center of the center for female scientific and medical colleges
in King Saud University
FX This research project was supported by a grant from the research center
of the center for female scientific and medical colleges in King Saud
University.
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NR 50
TC 4
Z9 4
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1744-9081
J9 BEHAV BRAIN FUNCT
JI Behav. Brain Funct.
PD APR 28
PY 2014
VL 10
AR 14
DI 10.1186/1744-9081-10-14
PG 11
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AH1DF
UT WOS:000335859200001
PM 24776096
ER
PT J
AU Doherty, JL
Owen, MJ
AF Doherty, Joanne L.
Owen, Michael J.
TI Genomic insights into the overlap between psychiatric disorders:
implications for research and clinical practice
SO GENOME MEDICINE
LA English
DT Review
ID DEFICIT HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; COPY-NUMBER VARIATION; DE-NOVO
MUTATIONS; 22Q11.2 DELETION SYNDROME; RARE CHROMOSOMAL DELETIONS;
BIPOLAR-DISORDER; INTELLECTUAL DISABILITY; MENTAL-RETARDATION
AB Psychiatric disorders such as schizophrenia, bipolar disorder, major depressive disorder, attention-deficit/hyperactivity disorder and autism spectrum disorder are common and result in significantmorbidity andmortality. Although currently classified into distinct disorder categories, they show clinical overlap and familial co-aggregation, and share genetic risk factors. Recent advances in psychiatric genomics have provided insight into the potential mechanisms underlying the overlap between these disorders, implicating genes involved in neurodevelopment, synaptic plasticity, learning andmemory. Furthermore, evidence from copy number variant, exome sequencing and genome-wide association studies supports a gradient of neurodevelopmental psychopathology indexed by mutational load ormutational severity, and cognitive impairment. These findings have important implications for psychiatric research, highlighting the need for new approaches to stratifying patients for research. They also point the way for work aiming to advance our understanding of the pathways from genotype to clinical phenotype, which will be required in order to inform new classification systems and to develop novel therapeutic strategies.
C1 [Owen, Michael J.] Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales.
Cardiff Univ, Neurosci & Mental Hlth Res Inst, Cardiff CF24 4HQ, S Glam, Wales.
RP Owen, MJ (reprint author), Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Hadyn Ellis Buildin,Maindy Rd, Cardiff CF24 4HQ, S Glam, Wales.
EM owenmj@cardiff.ac.uk
FU Medical Research Council Centre [G0800509, G0801418]; European
Community's Seventh Framework Programme [HEALTH-F2-2010-241909];
National Institute of Mental Health [2 P50MH066392-05A1]; Wellcome Trust
Strategic Award [100202/Z/12/Z)]; Wellcome Trust Clinical Research
[102003/Z/13/Z]
FX MJO is supported by the Medical Research Council Centre (G0800509) and
Program Grants (G0801418), the European Community's Seventh Framework
Programme (HEALTH-F2-2010-241909 (Project EU-GEI)), the National
Institute of Mental Health (2 P50MH066392-05A1) and a Wellcome Trust
Strategic Award (100202/Z/12/Z). JLD is supported by a Wellcome Trust
Clinical Research Training Fellowship (102003/Z/13/Z).
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NR 150
TC 6
Z9 6
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1756-994X
J9 GENOME MED
JI Genome Med.
PD APR 28
PY 2014
VL 6
AR 29
DI 10.1186/gm546
PG 13
WC Genetics & Heredity
SC Genetics & Heredity
GA AG4RX
UT WOS:000335409000001
PM 24944580
ER
PT J
AU Wang, XM
Xu, Q
Bey, AL
Lee, Y
Jiang, YH
AF Wang, Xiaoming
Xu, Qiong
Bey, Alexandra L.
Lee, Yoonji
Jiang, Yong-hui
TI Transcriptional and functional complexity of Shank3 provides a molecular
framework to understand the phenotypic heterogeneity of SHANK3 causing
autism and Shank3 mutant mice
SO MOLECULAR AUTISM
LA English
DT Article
DE Activity dependent gene regulation; Alternative splicing; Autism
spectrum disorder; Phenotypic heterogeneity; Shank3 isoform
ID DE-NOVO MUTATIONS; POSTSYNAPTIC DENSITY PROTEINS; SPECTRUM DISORDERS;
DNA METHYLATION; FAMILY; EXPRESSION; BRAIN; BEHAVIORS; RECEPTOR; MOUSE
AB Background: Considerable clinical heterogeneity has been well documented amongst individuals with autism spectrum disorders (ASD). However, little is known about the biological mechanisms underlying phenotypic diversity. Genetic studies have established a strong causal relationship between ASD and molecular defects in the SHANK3 gene. Individuals with various defects of SHANK3 display considerable clinical heterogeneity. Different lines of Shank3 mutant mice with deletions of different portions of coding exons have been reported recently. Variable synaptic and behavioral phenotypes have been reported in these mice, which makes the interpretations for these data complicated without the full knowledge of the complexity of the Shank3 transcript structure.
Methods: We systematically examined alternative splicing and isoform-specific expression of Shank3 across different brain regions and developmental stages by regular RT-PCR, quantitative real time RT-PCR (q-PCR), and western blot. With these techniques, we also investigated the effects of neuronal activity and epigenetic modulation on alternative splicing and isoform-specific expression of Shank3. We explored the localization and influence on dendritic spine development of different Shank3 isoforms in cultured hippocampal neurons by cellular imaging.
Results: The Shank3 gene displayed an extensive array of mRNA and protein isoforms resulting from the combination of multiple intragenic promoters and extensive alternative splicing of coding exons in the mouse brain. The isoform-specific expression and alternative splicing of Shank3 were brain-region/cell-type specific, developmentally regulated, activity-dependent, and involved epigenetic regulation. Different subcellular distribution and differential effects on dendritic spine morphology were observed for different Shank3 isoforms.
Conclusions: Our results indicate a complex transcriptional regulation of Shank3 in mouse brains. Our analysis of select Shank3 isoforms in cultured neurons suggests that different Shank3 isoforms have distinct functions. Therefore, the different types of SHANK3 mutations found in patients with ASD and different exonic deletions of Shank3 in mutant mice are predicted to disrupt selective isoforms and result in distinct dysfunctions at the synapse with possible differential effects on behavior. Our comprehensive data on Shank3 transcriptional regulation thus provides an essential molecular framework to understand the phenotypic diversity in SHANK3 causing ASD and Shank3 mutant mice.
C1 [Wang, Xiaoming; Xu, Qiong; Lee, Yoonji; Jiang, Yong-hui] Duke Univ, Sch Med, Dept Pediat, Div Med Genet, Durham, NC 27710 USA.
[Bey, Alexandra L.; Jiang, Yong-hui] Duke Univ, Sch Med, Dept Neurobiol, Durham, NC 27710 USA.
[Xu, Qiong] Fudan Univ, Childrens Hosp, Dept Child Hlth Care, Shanghai 201102, Peoples R China.
RP Jiang, YH (reprint author), Duke Univ, Sch Med, Dept Pediat, Div Med Genet, Durham, NC 27710 USA.
EM yong-hui.jiang@duke.edu
RI wang, xiaoming/I-2158-2013
OI wang, xiaoming/0000-0002-7763-690X
FU Phelan-McDermid Syndrome Foundation; Natural Science Foundation of
China, NSFC [81371270]; Ruth K. Broad Foundation; National Institutes of
Health [R01MH098114-01]; Autism Speaks grant
FX We thank Shengli Zhao and Tingting Wang for generous gifts of EGFP
plasmids. We thank Xinyu Cao for technical assistance. XW is supported
by a postdoctoral fellowship from Phelan-McDermid Syndrome Foundation.
QX is supported by a grant from Natural Science Foundation of China,
NSFC (No. 81371270). ALB is a pre-doctoral fellow supported by Ruth K.
Broad Foundation. YHJ is supported by an Autism Speaks grant, Ruth K.
Broad Foundation, and National Institutes of Health grant
R01MH098114-01.
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NR 48
TC 3
Z9 3
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD APR 25
PY 2014
VL 5
AR 30
DI 10.1186/2040-2392-5-30
PG 14
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AG7OG
UT WOS:000335606800001
PM 25071925
ER
PT J
AU Tavassoli, T
Hoekstra, RA
Baron-Cohen, S
AF Tavassoli, Teresa
Hoekstra, Rosa A.
Baron-Cohen, Simon
TI The Sensory Perception Quotient (SPQ): development and validation of a
new sensory questionnaire for adults with and without autism
SO MOLECULAR AUTISM
LA English
DT Article
DE autism spectrum conditions; sensory questionnaire; sensory perception
quotient
ID SPECTRUM QUOTIENT; YOUNG-CHILDREN; TYPICAL DEVELOPMENT; FUNCTIONING
AUTISM; PROFILE; AQ; DISORDERS; ABNORMALITIES; DISABILITIES; PERFORMANCE
AB Background: Questionnaire-based studies suggest atypical sensory perception in over 90% of individuals with autism spectrum conditions (ASC). Sensory questionnaire-based studies in ASC mainly record parental reports of their child's sensory experience; less is known about sensory reactivity in adults with ASC. Given the DSM-5 criteria for ASC now include sensory reactivity, there is a need for an adult questionnaire investigating basic sensory functioning. We aimed to develop and validate the Sensory Perception Quotient (SPQ), which assesses basic sensory hyper-and hyposensitivity across all five modalities.
Methods: A total of 359 adults with (n = 196) and without (n = 163) ASC were asked to fill in the SPQ, the Sensory Over-Responsivity Inventory (SensOR) and the Autism-Spectrum Quotient (AQ) online.
Results: Adults with ASC reported more sensory hypersensitivity on the SPQ compared to controls (P <.001). SPQ scores were correlated with AQ scores both across groups (r =.-38) and within the ASC (r = -.18) and control groups (r = -.15). Principal component analyses conducted separately in both groups indicated that one factor comprising 35 items consistently assesses sensory hypersensitivity. The SPQ showed high internal consistency for both the total SPQ (Cronbach's alpha =.92) and the reduced 35-item version (alpha =.93). The SPQ was significantly correlated with the SensOR across groups (r = -.46) and within the ASC (r = -.49) and control group (r = -.21).
Conclusions: The SPQ shows good internal consistency and concurrent validity and differentiates between adults with and without ASC. Adults with ASC report more sensitivity to sensory stimuli on the SPQ. Finally, greater sensory sensitivity is associated with more autistic traits. The SPQ provides a new tool to measure individual differences on this dimension.
C1 [Tavassoli, Teresa; Hoekstra, Rosa A.; Baron-Cohen, Simon] Univ Cambridge, Autism Res Ctr, Dept Psychiat, Cambridge CB2 8AH, England.
[Tavassoli, Teresa] Icahn Sch Med, Seaver Autism Ctr, New York, NY 10129 USA.
[Hoekstra, Rosa A.] Open Univ, Dept Life Hlth & Chem Sci, Milton Keynes MK7 6AA, Bucks, England.
[Baron-Cohen, Simon] Cambridgeshire & Peterborough NHS Fdn Trust, CLASS Clin, Cambridge CB21 5EF, England.
RP Tavassoli, T (reprint author), Univ Cambridge, Autism Res Ctr, Dept Psychiat, 18b Trumpington Rd, Cambridge CB2 8AH, England.
EM teresa.tavassoli@mssm.edu
FU Wallace Research Foundation; Autism Science Foundation; MRC UK; Wellcome
Trust; Autism Research Trust
FX TT was supported by the Wallace Research Foundation and the Autism
Science Foundation. SBC was supported by the MRC UK, the Wellcome Trust,
and the Autism Research Trust. This work was conducted in association
with the NIHR CLAHRC EoE. We are grateful to the participants for their
generous cooperation, and to Dr. Carrie Allison for her help.
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
APA, 1987, DIAGN STAT MAN MENT
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NR 36
TC 2
Z9 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD APR 24
PY 2014
VL 5
AR 29
DI 10.1186/2040-2392-5-29
PG 10
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AG4UN
UT WOS:000335415900001
PM 24791196
ER
PT J
AU MacArthur, DG
Manolio, TA
Dimmock, DP
Rehm, HL
Shendure, J
Abecasis, GR
Adams, DR
Altman, RB
Antonarakis, SE
Ashley, EA
Barrett, JC
Biesecker, LG
Conrad, DF
Cooper, GM
Cox, NJ
Daly, MJ
Gerstein, MB
Goldstein, DB
Hirschhorn, JN
Leal, SM
Pennacchio, LA
Stamatoyannopoulos, JA
Sunyaev, SR
Valle, D
Voight, BF
Winckler, W
Gunter, C
AF MacArthur, D. G.
Manolio, T. A.
Dimmock, D. P.
Rehm, H. L.
Shendure, J.
Abecasis, G. R.
Adams, D. R.
Altman, R. B.
Antonarakis, S. E.
Ashley, E. A.
Barrett, J. C.
Biesecker, L. G.
Conrad, D. F.
Cooper, G. M.
Cox, N. J.
Daly, M. J.
Gerstein, M. B.
Goldstein, D. B.
Hirschhorn, J. N.
Leal, S. M.
Pennacchio, L. A.
Stamatoyannopoulos, J. A.
Sunyaev, S. R.
Valle, D.
Voight, B. F.
Winckler, W.
Gunter, C.
TI Guidelines for investigating causality of sequence variants in human
disease
SO NATURE
LA English
DT Article
ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; PROTEIN-CODING GENES;
HUMAN GENOME; INTELLECTUAL DISABILITY; COMPLEX TRAITS; RARE VARIANTS;
ASSOCIATION; POPULATION; PHENOTYPE
AB The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing disease-causing sequence variants from the many potentially functional variants present in any human genome are urgently needed. Without rigorous standards we risk an acceleration of false-positive reports of causality, which would impede the translation of genomic research findings into the clinical diagnostic setting and hinder biological understanding of disease. Here we discuss the key challenges of assessing sequence variants in human disease, integrating both gene-level and variant-level support for causality. We propose guidelines for summarizing confidence in variant pathogenicity and highlight several areas that require further resource development.
C1 [MacArthur, D. G.; Daly, M. J.] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
[MacArthur, D. G.; Daly, M. J.; Hirschhorn, J. N.; Winckler, W.] Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA 02142 USA.
[Manolio, T. A.] NHGRI, Div Genom Med, Bethesda, MD 20892 USA.
[Dimmock, D. P.] Med Coll Wisconsin, Dept Pediat, Div Genet, Milwaukee, WI 53226 USA.
[Rehm, H. L.] Partners Healthcare Ctr Personalized Genet Med, Mol Med Lab, Cambridge, MA 02139 USA.
[Rehm, H. L.] Harvard Univ, Sch Med, Dept Pathol, Boston, MA 02115 USA.
[Shendure, J.] Univ Washington, Dept Genome Sci, Seattle, WA 98115 USA.
[Abecasis, G. R.] Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA.
[Adams, D. R.] NIH, NIH Undiagnosed Dis Program, Off Rare Dis Res, Bethesda, MD 20892 USA.
[Adams, D. R.] NHGRI, Bethesda, MD 20892 USA.
[Adams, D. R.] NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA.
[Altman, R. B.] Stanford Univ, Dept Bioengn, Stanford, CA 94305 USA.
[Altman, R. B.] Stanford Univ, Dept Genet, Stanford, CA 94305 USA.
[Antonarakis, S. E.] Univ Geneva, Sch Med, Dept Med Genet, CH-1211 Geneva, Switzerland.
[Antonarakis, S. E.] iGE3 Inst Genet & Genom Geneva, CH-1211 Geneva, Switzerland.
[Ashley, E. A.] Stanford Univ, Sch Med, Ctr Inherited Cardiovasc Dis, Stanford, CA 94305 USA.
[Barrett, J. C.] Wellcome Trust Sanger Inst, Cambridge CB10 1HH, England.
[Biesecker, L. G.] NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA.
[Conrad, D. F.] Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA.
[Conrad, D. F.] Washington Univ, Sch Med, Dept Pathol, St Louis, MO 63110 USA.
[Conrad, D. F.] Washington Univ, Sch Med, Dept Immunol, St Louis, MO 63110 USA.
[Cooper, G. M.; Gunter, C.] HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA.
[Cox, N. J.] Univ Chicago, Dept Med, Med Genet Sect, Chicago, IL 60637 USA.
[Gerstein, M. B.] Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT 06520 USA.
[Gerstein, M. B.] Yale Univ, Dept Comp Sci, New Haven, CT 06520 USA.
[Gerstein, M. B.] Yale Univ, Dept Mol Biophys, New Haven, CT 06520 USA.
[Gerstein, M. B.] Yale Univ, Dept Biochem, New Haven, CT 06520 USA.
[Goldstein, D. B.] Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA.
[Hirschhorn, J. N.] Childrens Hosp, Div Genet, Boston, MA 02115 USA.
[Hirschhorn, J. N.] Childrens Hosp, Div Endocrinol, Boston, MA 02115 USA.
[Leal, S. M.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
[Pennacchio, L. A.] Univ Calif Berkeley, Lawrence Berkeley Natl Lab, Genom Div, Berkeley, CA 94720 USA.
[Pennacchio, L. A.] US DOE, Joint Genome Inst, Walnut Creek, CA 94598 USA.
[Stamatoyannopoulos, J. A.] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA.
[Sunyaev, S. R.] Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA.
[Sunyaev, S. R.] Harvard Univ, Sch Med, Boston, MA 02115 USA.
[Valle, D.] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USA.
[Voight, B. F.] Univ Penn, Perelman Sch Med, Dept Pharmacol, Philadelphia, PA 19104 USA.
[Voight, B. F.] Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA.
RP MacArthur, DG (reprint author), Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
EM macarthur@atgu.mgh.harvard.edu; drchrisgunter@gmail.com
RI Antonarakis, Stylianos/N-8866-2014
OI Antonarakis, Stylianos/0000-0001-8907-5823
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NR 60
TC 82
Z9 83
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0028-0836
EI 1476-4687
J9 NATURE
JI Nature
PD APR 24
PY 2014
VL 508
IS 7497
BP 469
EP 476
DI 10.1038/nature13127
PG 8
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AF5GI
UT WOS:000334741600026
PM 24759409
ER
PT J
AU Fricano, CJ
DeSpenza, T
Frazel, PW
Li, MJ
O'Malley, AJ
Westbrook, GL
Luikart, BW
AF Fricano, Catherine J.
DeSpenza, Tyrone, Jr.
Frazel, Paul W.
Li, Meijie
O'Malley, A. James
Westbrook, Gary L.
Luikart, Bryan W.
TI Fatty acids increase neuronal hypertrophy of Pten knockdown neurons
SO FRONTIERS IN MOLECULAR NEUROSCIENCE
LA English
DT Article
DE Pten; mTOR; pS6; fatty acids; neuronal hypertrophy; PI3K; rapamycin
ID COMPREHENSIVE METAANALYSIS; RISK-FACTORS; AUTISM; METABOLISM; MUTATIONS;
CELLS; INDIVIDUALS; ACTIVATION; DISORDERS; DISEASE
AB Phosphatase and tensin homolog (Pten) catalyzes the reverse reaction of PI3K by dephosphorylating PIP3 to PIP2. This negatively regulates downstream Akt/mTOR/S6 signaling resulting in decreased cellular growth and proliferation. Co-injection of a lentivirus knocking Pten down with a control lentivirus allows us to compare the effects of Pten knockdown between individual neurons within the same animal. We find that knockdown of Pten results in neuronal hypertrophy by 21 days post-injection. This neuronal hypertrophy is correlated with increased p-S6 and p-mTOR in individual neurons. We used this system to test whether an environmental factor that has been implicated in cellular hypertrophy could influence the severity of the Pten knockdown-induced hypertrophy. Implantation of mini-osmotic pumps delivering fatty acids results in increased neuronal hypertrophy and p-S6/p-mTOR staining. These hypertrophic effects were reversed in response to rapamycin treatment. However, we did not observe a similar increase in hypertrophy in response to dietary manipulations of fatty acids. Thus, we conclude that by driving growth signaling with fatty acids and knocking down a critical regulator of growth, Pten, we are able to observe an additive morphological phenotype of increased soma size mediated by the mTOR pathway.
C1 [Fricano, Catherine J.; DeSpenza, Tyrone, Jr.; Frazel, Paul W.; Li, Meijie; Luikart, Bryan W.] Geisel Sch Med Dartmouth, Dept Physiol & Neurobiol, Lebanon, NH 03756 USA.
[O'Malley, A. James] Geisel Sch Med Dartmouth, Dartmouth Inst Hlth Policy & Clin Practice, Lebanon, NH 03756 USA.
[Westbrook, Gary L.] Oregon Hlth & Sci Univ, Vollum Inst, Portland, OR 97201 USA.
RP Luikart, BW (reprint author), Geisel Sch Med Dartmouth, 1 Med Ctr Dr, Lebanon, NH 03756 USA.
EM bryan.w.luikart@dartmouth.edu
FU Autism Speaks Pilot Grant [7359]; [R01 MH097949-01]
FX This work was supported by R01 MH097949-01 (Bryan W. Luikart) and Autism
Speaks Pilot Grant #7359 (Bryan W. Luikart). The imaging was made
possible by the Optical Cellular Imaging Shared Resource and the Norris
Cotton Cancer Center at the Geisel School of Medicine at Dartmouth (5
P30 CA023108).
CR Abrahams BS, 2008, NAT REV GENET, V9, P341, DOI 10.1038/nrg2346
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NR 28
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5099
J9 FRONT MOL NEUROSCI
JI Front. Molec. Neurosci.
PD APR 23
PY 2014
VL 7
AR 30
DI 10.3389/fnmol.2014.00030
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AZ0YZ
UT WOS:000347969000001
PM 24795563
ER
PT J
AU Kerekes, N
Lundstrom, S
Chang, Z
Tajnia, A
Jern, P
Lichtenstein, P
Nilsson, T
Anckarsater, H
AF Kerekes, Nora
Lundstrom, Sebastian
Chang, Zheng
Tajnia, Armin
Jern, Patrick
Lichtenstein, Paul
Nilsson, Thomas
Anckarsater, Henrik
TI Oppositional defiant- and conduct disorder-like problems:
neurodevelopmental predictors and genetic background in boys and girls,
in a nationwide twin study
SO PEERJ
LA English
DT Article
DE Oppositional defiant disorder; Conduct disorder; Attention deficit
hyperactivity disorder; Autism spectrum disorder; Social interaction;
Boys; Girls
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT-HYPERACTIVITY
DISORDER; RELATIONAL AGGRESSION; SEX-DIFFERENCES; SYMPTOMS; CHILDREN;
ADHD; PSYCHOPATHOLOGY; COVARIATION; ASSOCIATION
AB Background. Previous research has supported gender-specific aetiological factors in oppositional defiant disorder (ODD) and conduct disorder (CD). The aims of this study were to identify gender-specific associations between the behavioural problems-ODD/CD-like problems-and the neurodevelopmental disorders-attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD)-and to investigate underlying genetic effects.
Methods. 17,220 twins aged 9 or 12 were screened using the Autism-Tics, AD/HD and other Comorbidities inventory. The main covariates of ODD- and CD-like problems were investigated, and the relative importance of unique versus shared hereditary and environmental effects was estimated using twin model fitting.
Results. Social interaction problems (one of the ASD subdomains) was the strongest neurodevelopmental covariate of the behavioural problems in both genders, while ADHD-related hyperactivity/impulsiveness in boys and inattention in girls stood out as important covariates of CD-like problems. Genetic effects accounted for 50%-62% of the variance in behavioural problems, except in CD-like problems in girls (26%). Genetic and environmental effects linked to ADHD and ASD also influenced ODD-like problems in both genders and, to a lesser extent, CD-like problems in boys, but not in girls.
Conclusions. The gender-specific patterns should be considered in the assessment and treatment, especially of CD.
C1 [Kerekes, Nora; Lundstrom, Sebastian; Tajnia, Armin; Nilsson, Thomas; Anckarsater, Henrik] Univ Gothenburg, Inst Neurosci & Physiol, Ctr Eth Law & Mental Health, CELAM, Gothenburg, Sweden.
[Kerekes, Nora; Lundstrom, Sebastian] Swedish Prison & Probat Serv, Res & Dev Unit, Gothenburg, Sweden.
[Lundstrom, Sebastian] Univ Gothenburg, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden.
[Chang, Zheng; Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
[Jern, Patrick] Abo Akad Univ, Dept Psychol & Logoped, Turku, Finland.
[Jern, Patrick] Queensland Inst Med Res, Genet Epidemiol Lab, Brisbane, Qld 4006, Australia.
RP Kerekes, N (reprint author), Univ Gothenburg, Inst Neurosci & Physiol, Ctr Eth Law & Mental Health, CELAM, Gothenburg, Sweden.
EM nora.kerekes@neuro.gu.se
RI Kerekes, Nora/C-6474-2009
FU Swedish Council for Working Life and Social Research; Swedish Research
Council (Medicine); Agreement on Medical Training and Research
FX The CATSS-9/12-study is supported by the Swedish Council for Working
Life and Social Research, the Swedish Research Council (Medicine) and by
the Agreement on Medical Training and Research. The funders had no role
in study design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 29
TC 0
Z9 0
PU PEERJ INC
PI LONDON
PA 341-345 OLD ST, THIRD FLR, LONDON, EC1V 9LL, ENGLAND
SN 2167-8359
J9 PEERJ
JI PeerJ
PD APR 22
PY 2014
VL 2
AR e359
DI 10.7717/peerj.359
PG 17
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AY4TS
UT WOS:000347571500002
PM 24795851
ER
PT J
AU Rossignol, DA
Frye, RE
AF Rossignol, Daniel A.
Frye, Richard E.
TI Evidence linking oxidative stress, mitochondrial dysfunction, and
inflammation in the brain of individuals with autism
SO FRONTIERS IN PHYSIOLOGY
LA English
DT Review
DE autism; brain; oxidative stress; mitochondrial dysfunction; inflammation
ID NECROSIS-FACTOR-ALPHA; MAGNETIC-RESONANCE-SPECTROSCOPY; DISABILITIES
MONITORING NETWORK; DORSOLATERAL PREFRONTAL CORTEX; GLUTATHIONE REDOX
IMBALANCE; SPECTRUM DISORDERS; MICROGLIAL ACTIVATION;
PSYCHIATRIC-DISORDERS; METABOLIC BIOMARKERS; CEREBROSPINAL-FLUID
AB Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders that are defined solely on the basis of behavioral observations. Therefore, ASD has traditionally been framed as a behavioral disorder. However, evidence is accumulating that ASD is characterized by certain physiological abnormalities, including oxidative stress, mitochondrial dysfunction and immune dysregulation/inflammation. While these abnormalities have been reported in studies that have examined peripheral biomarkers such as blood and urine, more recent studies have also reported these abnormalities in brain tissue derived from individuals diagnosed with ASD as compared to brain tissue derived from control individuals. A majority of these brain tissue studies have been published since 2010. The brain regions found to contain these physiological abnormalities in individuals with ASD are involved in speech and auditory processing, social behavior, memory, and sensory and motor coordination. This manuscript examines the evidence linking oxidative stress, mitochondrial dysfunction and immune dysregulation/inflammation in the brain of ASD individuals, suggesting that ASD has a clear biological basis with features of known medical disorders. This understanding may lead to new testing and treatment strategies in individuals with ASD.
C1 [Rossignol, Daniel A.] Rossignol Med Ctr, Irvine, CA 92618 USA.
[Frye, Richard E.] Univ Arkansas Med Sci, Arkansas Childrens Hosp, Res Inst, Dept Pediat, Little Rock, AR 72205 USA.
RP Rossignol, DA (reprint author), Rossignol Med Ctr, 16251 Laguna Canyon Rd Suite 175, Irvine, CA 92618 USA.
EM rossignolmd@gmail.com
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NR 140
TC 7
Z9 7
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-042X
J9 FRONT PHYSIOL
JI Front. Physiol.
PD APR 22
PY 2014
VL 5
AR 150
DI 10.3389/fphys.2014.00150
PG 15
WC Physiology
SC Physiology
GA AX6NN
UT WOS:000347038900001
PM 24795645
ER
PT J
AU Chenier, S
Yoon, G
Argiropoulos, B
Lauzon, J
Laframboise, R
Ahn, JW
Ogilvie, CM
Lionel, AC
Marshall, CR
Vaags, AK
Hashemi, B
Boisvert, K
Mathonnet, G
Tihy, F
So, J
Scherer, SW
Lemyre, E
Stavropoulos, DJ
AF Chenier, Sebastien
Yoon, Grace
Argiropoulos, Bob
Lauzon, Julie
Laframboise, Rachel
Ahn, Joo Wook
Ogilvie, Caroline Mackie
Lionel, Anath C.
Marshall, Christian R.
Vaags, Andrea K.
Hashemi, Bita
Boisvert, Karine
Mathonnet, Geraldine
Tihy, Frederique
So, Joyce
Scherer, Stephen W.
Lemyre, Emmanuelle
Stavropoulos, Dimitri J.
TI CHD2 haploinsufficiency is associated with developmental delay,
intellectual disability, epilepsy and neurobehavioural problems
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; CHD2; Developmental delay; Epilepsy; Learning
disability
ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; GENOME-WIDE ASSOCIATION;
COPY NUMBER VARIATION; SUSCEPTIBILITY LOCI; FAMILY; ENCEPHALOPATHIES;
POPULATIONS; VARIANTS; PROTEINS
AB Background: The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 protein plays a critical role in embryonic development, tumor suppression and survival. Like other genes encoding members of the CHD family, pathogenic mutations in the CHD2 gene are expected to be implicated in human disease. In fact, there is emerging evidence suggesting that CHD2 might contribute to a broad spectrum of neurodevelopmental disorders. Despite growing evidence, a description of the full phenotypic spectrum of this condition is lacking.
Methods: We conducted a multicentre study to identify and characterise the clinical features associated with haploinsufficiency of CHD2. Patients with deletions of this gene were identified from among broadly ascertained clinical cohorts undergoing genomic microarray analysis for developmental delay, congenital anomalies and/or autism spectrum disorder.
Results: Detailed clinical assessments by clinical geneticists showed recurrent clinical symptoms, including developmental delay, intellectual disability, epilepsy, behavioural problems and autism-like features without characteristic facial gestalt or brain malformations observed on magnetic resonance imaging scans. Parental analysis showed that the deletions affecting CHD2 were de novo in all four patients, and analysis of high-resolution microarray data derived from 26,826 unaffected controls showed no deletions of this gene.
Conclusions: The results of this study, in addition to our review of the literature, support a causative role of CHD2 haploinsufficiency in developmental delay, intellectual disability, epilepsy and behavioural problems, with phenotypic variability between individuals.
C1 [Chenier, Sebastien] CHU Sherbrooke, Dept Pediat, Div Med Genet, Sherbrooke, PQ J1H 5N4, Canada.
[Yoon, Grace; Hashemi, Bita] Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, Canada.
[Yoon, Grace; Hashemi, Bita; Stavropoulos, Dimitri J.] Univ Toronto, Toronto, ON M5G 1X8, Canada.
[Argiropoulos, Bob; Lauzon, Julie] Univ Calgary, Alberta Childrens Hosp Res Inst, Dept Med Genet, Calgary, AB T3B 6A8, Canada.
[Laframboise, Rachel; Boisvert, Karine] Ctr Hosp Univ Quebec, Dept Pediat, Div Med Genet, Quebec City, PQ G1V 4G2, Canada.
[Ahn, Joo Wook; Ogilvie, Caroline Mackie] Guys & St Thomas NHS Fdn Trust, Cytogenet Dept, London SE1 9RT, England.
[Lionel, Anath C.; Marshall, Christian R.; Scherer, Stephen W.] Hosp Sick Children, Dept Mol Genet, Toronto, ON M5G 0A4, Canada.
[Lionel, Anath C.; Marshall, Christian R.; Scherer, Stephen W.] Hosp Sick Children, McLaughlin Ctr, Ctr Appl Genom, Toronto, ON M5G 0A4, Canada.
[Lionel, Anath C.; Marshall, Christian R.; Scherer, Stephen W.] Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 0A4, Canada.
[Lionel, Anath C.; Marshall, Christian R.; Scherer, Stephen W.] Univ Toronto, Toronto, ON M5G 0A4, Canada.
[Vaags, Andrea K.] Calgary Lab Serv, Cytogenet Lab, Div Anat Pathol & Cytopathol, Calgary, AB T3B 6A8, Canada.
[Vaags, Andrea K.] Alberta Childrens Prov Gen Hosp, Calgary, AB T3B 6A8, Canada.
[Mathonnet, Geraldine; Tihy, Frederique; Lemyre, Emmanuelle] Univ Montreal, Dept Pediat, Div Med Genet, Ctr Hosp Univ St Justine, Montreal, PQ H3T 1C5, Canada.
[So, Joyce] Lakeridge Hlth Oshawa, Dept Clin Genet, Oshawa, ON L1G 2B9, Canada.
[Stavropoulos, Dimitri J.] Hosp Sick Children, Dept Paediat Lab Med, Toronto, ON M5G 1X8, Canada.
RP Stavropoulos, DJ (reprint author), Hosp Sick Children, Dept Paediat Lab Med, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
EM james.stavropoulos@sickkids.ca
RI Scherer, Stephen /B-3785-2013
OI Scherer, Stephen /0000-0002-8326-1999
FU University of Toronto McLaughlin Centre; Genome Canada through the
Ontario Genomics Institute; Canadian Institutes of Health Research
(CIHR); NeuroDevNet doctoral fellowship; National Institute of Diabetes
and Digestive and Kidney Diseases (NIDDK); NIDDK Central Repositories;
National Institutes of Health (NIH) Genes, Environment and Health
Initiative (GEI) [U01 HG004399]; National Institutes of Health [CA87969,
CA55075, DK58845]; Gene Environment Association Studies GENEVA
coordinating center [U01 HG004446]; National Center for Biotechnology
Information; NIH GEI [U01 HG004424]; Division of Aging Biology, National
Institute on Aging, NIH; Division of Geriatrics and Clinical
Gerontology, National Institute on Aging, NIH; National Eye Institute,
NIH; Gene Environment Association Studies (GENEVA) Coordinating Center
[U01 HG004446]; University of Wisconsin Transdisciplinary Tobacco Use
Research Center [P50 DA019706, P50 CA084724]; [1 X01 HG005274-01];
[P01 CA089392]
FX The authors wish to thank the patients and their families for
participating in this study. This work was supported by grants from the
University of Toronto McLaughlin Centre, Genome Canada through the
Ontario Genomics Institute, and the Canadian Institutes of Health
Research (CIHR). ACL was supported by a NeuroDevNet doctoral fellowship.
SWS holds the GlaxoSmithKline-CIHR Chair in Genome Sciences at the
University of Toronto and The Hospital for Sick Children. The authors
would like to thank Dr Marsha Speevak for permission to include
statistics from the patient database at Credit Valley Hospital. Control
data sets were obtained, along with permission for their use, from the
database of Genotypes and Phenotypes (dbGaP)
(http://www.ncbi.nlm.nih.gov/gap) through dbGaP accession numbers
phs000143.v1.p1 (Starr County Health Studies' Genetics of Diabetes
Study), phs000091.v2.p1 (GENEVA Genes and Environment Initiatives in
Type 2 Diabetes (Nurses' Health Study/Health Professionals Follow-up
Study), phs000169.v1.p1 (Whole Genome Association Study of Visceral
Adiposity in the Health Aging and Body Composition (Health ABC) Study),
phs000303.v1.p1 (Genetic Epidemiology of Refractive Error in the KORA
(Kooperative Gesundheitsforschung in der Region Augsburg) Study) and
phs000404.v1.p1 (Collaborative Genetic Study of Nicotine Dependence
(COGEND); The Genetic Architecture of Smoking and Smoking Cessation).
The Starr County Health Studies Genetics of Diabetes Study was supported
by the National Institute of Diabetes and Digestive and Kidney Diseases
(NIDDK) and the NIDDK Central Repositories. Support for the genome-wide
association study (GWAS) of the GENEVA Genes and Environment Initiatives
in Type 2 Diabetes (Nurses' Health Study/Health Professionals Follow-up
Study) was provided by the National Institutes of Health (NIH) Genes,
Environment and Health Initiative (GEI) (grant U01 HG004399). The
participants in the GWAS derive from The Nurses' Health Study and Health
Professionals' Follow-up Study, which are supported by National
Institutes of Health grants CA87969, CA55075 and DK58845. Assistance
with phenotype harmonization and genotype cleaning, as well as with
general study coordination, was provided by the Gene Environment
Association Studies GENEVA coordinating center (grant U01 HG004446) and
the National Center for Biotechnology Information. Support for
genotyping, which was performed at the Broad Institute of the
Massachusetts Institute of Technology and Harvard University, was
provided by the NIH GEI (grant U01 HG004424). Support for the Johns
Hopkins University Center for Inherited Disease Research (CIDR) Visceral
Adiposity Study was provided through the Division of Aging Biology and
the Division of Geriatrics and Clinical Gerontology, National Institute
on Aging, NIH. Assistance with phenotype harmonization and genotype
cleaning, as well as with general study coordination, was provided by
the Health Aging and Body Composition (Health ABC) Study Investigators.
The KORA data set was obtained from the NEI Refractive Error
Collaboration (NEIREC) Database, funding support for which was provided
by the National Eye Institute, NIH. Funding support for genotyping of
the COGEND samples, which was performed at the Center for Inherited
Disease Research, was provided by grant 1 X01 HG005274-01. Assistance
with genotype cleaning of the COGEND samples, as well as with general
study coordination, was provided by the Gene Environment Association
Studies (GENEVA) Coordinating Center (grant U01 HG004446).Funding
support for collection of COGEND data sets and samples was provided by
COGEND (grant P01 CA089392) and the University of Wisconsin
Transdisciplinary Tobacco Use Research Center (grants P50 DA019706 and
P50 CA084724).
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NR 28
TC 5
Z9 5
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD APR 22
PY 2014
VL 6
AR 9
DI 10.1186/1866-1955-6-9
PG 9
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AG6MN
UT WOS:000335532800001
PM 24834135
ER
PT J
AU Lloyd-Fox, S
Papademetriou, M
Darboe, MK
Everdell, NL
Wegmuller, R
Prentice, AM
Moore, SE
Elwell, CE
AF Lloyd-Fox, Sarah
Papademetriou, M.
Darboe, M. K.
Everdell, N. L.
Wegmuller, R.
Prentice, A. M.
Moore, S. E.
Elwell, C. E.
TI Functional near infrared spectroscopy (fNIRS) to assess cognitive
function in infants in rural Africa.
SO SCIENTIFIC REPORTS
LA English
DT Article
ID 1ST 2 YEARS; SPEECH-PERCEPTION; DEVELOPING BRAIN; EYE GAZE; GROWTH;
AUTISM; VOICE; LIFE; FACE; SUPPLEMENTATION
AB Cortical mapping of cognitive function during infancy is poorly understood in low-income countries due to the lack of transportable neuroimaging methods. We have successfully piloted functional near infrared spectroscopy (fNIRS) as a neuroimaging tool in rural Gambia. Four-to-eight month old infants watched videos of Gambian adults perform social movements, while haemodynamic responses were recorded using fNIRS. We found distinct regions of the posterior superior temporal and inferior frontal cortex that evidenced either visual-social activation or vocally selective activation (vocal. non-vocal). The patterns of selective cortical activation in Gambian infants replicated those observed within similar aged infants in the UK. These are the first reported data on the measurement of localized functional brain activity in young infants in Africa and demonstrate the potential that fNIRS offers for field-based neuroimaging research of cognitive function in resource-poor rural communities.
C1 [Lloyd-Fox, Sarah] Birkbeck Univ London, Ctr Brain & Cognit Dev, London, England.
[Papademetriou, M.; Everdell, N. L.; Elwell, C. E.] UCL, Dept Med Phys & Bioengn, London, England.
[Darboe, M. K.; Wegmuller, R.; Prentice, A. M.; Moore, S. E.] MRC, Int Nutr Grp, MRC Keneba, MRC Unit, Keneba, Gambia.
[Prentice, A. M.; Moore, S. E.] London Sch Hyg & Trop Med, MRC, Int Nutr Grp, London WC1, England.
RP Lloyd-Fox, S (reprint author), Birkbeck Univ London, Ctr Brain & Cognit Dev, London, England.
EM s.fox@bbk.ac.uk
FU Bill & Melinda Gates Foundation Phase One Grand Challenges Exploration
Grant [OPP1061089, MC-A760-5QX00]; Medical Research Council UK; UK
Department for International Development (DfID) under the MRC/DfID
COncordant agreement; UK Medical Research Council [G0701484]
FX We would like to thank the parents and infants who took part in this
study as well as the field workers at the MRC Keneba Field Station
without whom this work would not have been possible. This study was
supported by a Bill & Melinda Gates Foundation Phase One Grand
Challenges Exploration Grant OPP1061089, core funding MC-A760-5QX00 to
the International Nutrition Group by the Medical Research Council UK and
the UK Department for International Development (DfID) under the
MRC/DfID COncordant agreement, and a UK Medical Research Council
(G0701484) grant.
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NR 60
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD APR 22
PY 2014
VL 4
AR 4740
DI 10.1038/srep04740
PG 8
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AF4FO
UT WOS:000334667300001
PM 24751935
ER
PT J
AU Zamzow, RM
Christ, SE
Saklayen, SS
Moffitt, AJ
Bodner, KE
Higgins, KF
Beversdorf, DQ
AF Zamzow, Rachel M.
Christ, Shawn E.
Saklayen, Sanjida S.
Moffitt, Amanda J.
Bodner, Kimberly E.
Higgins, Katherine F.
Beversdorf, David Q.
TI Effect of propranolol on facial scanning in autism spectrum disorder: A
preliminary investigation
SO JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY
LA English
DT Article
DE Autism; Eye tracking; Noradrenergic; Facial scanning; Propranolol
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS;
BETA-ADRENERGIC MODULATION; COGNITIVE FLEXIBILITY; EYE-TRACKING;
NORADRENERGIC MODULATION; FIXATION PATTERNS; ASPERGER-SYNDROME;
WILLIAMS-SYNDROME; FACE RECOGNITION
AB Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication impairments and restricted, repetitive behaviors. Whereas current pharmacological interventions for ASD focus primarily on psychiatric symptoms, including agitation and obsessive behaviors, few agents target core symptomatology. It has been previously hypothesized that abnormalities in facial scanning, such as reduced eye contact or increased mouth fixation, contribute to social communication deficits in ASD. In addition, previous reports have suggested elevated stress and anxiety in ASD, symptoms that are believed to impact facial scanning patterns. Objectives: The present pilot study sought to explore the effects of pharmacological intervention via propranolol, a nonselective beta-adrenergic antagonist and known anxiolytic, on facial scanning in ASD. Specifically, we wished to determine whether there is an increase in eye contact and a decrease in mouth fixation with administration of propranolol. Method: A sample of 14 participants with ASD and 14 matched controls participated in two study sessions in which propranolol and placebo were administered in a counterbalanced, double-blinded manner. At each session, ocular fixation data were collected during presentation of video stimuli of 16 human faces. Fixation time on the eye, nose, and mouth regions of the face stimuli was analyzed. Results: The baseline fixation patterns for the ASD and control groups did not significantly differ; however, administration of propranolol was associated with a significant reduction in mouth fixation for the ASD group. Additionally, mouth fixation was positively related to nonverbal communication impairment in the ASD group. Conclusions: Although eye fixation in ASD appears typical in the present study, the effect of propranolol in reducing mouth fixation suggests an important focus for further research. Future studies are needed to better characterize the relationship between stress and anxiety and facial scanning in ASD, as well as the effects of pharmacological intervention.
C1 [Zamzow, Rachel M.] Univ Missouri, Interdisciplinary Neurosci Program, Columbia, MO USA.
[Christ, Shawn E.; Moffitt, Amanda J.; Bodner, Kimberly E.; Beversdorf, David Q.] Univ Missouri, Dept Psychol Sci, Columbia, MO USA.
[Christ, Shawn E.; Beversdorf, David Q.] Univ Missouri, Thompson Ctr Autism & Neurodev Disorders, Columbia, MO USA.
[Saklayen, Sanjida S.] Ohio State Univ, Coll Med, Columbus, OH 43210 USA.
[Saklayen, Sanjida S.] Ohio State Univ, Integrated Biomed Grad Program, Columbus, OH 43210 USA.
[Higgins, Katherine F.] Univ Missouri, Coll Arts & Sci, Columbia, MO USA.
[Beversdorf, David Q.] Univ Missouri, Dept Radiol, Columbia, MO USA.
[Beversdorf, David Q.] Univ Missouri, Dept Neurol, Columbia, MO USA.
RP Beversdorf, DQ (reprint author), Univ Missouri Hlth Care, Ctr Translat Neurosci, Dept Radiol, DC069-10,One Hosp Dr, Columbia, MO 65212 USA.
EM beversdorfd@health.missouri.edu
FU MU Thompson Center for Autism and Neurodevelopmental Disorders;
Department of Radiology Research Investment Fund at the University of
Missouri; University of Missouri Life Sciences Predoctoral Fellowship
FX We acknowledge support from a Research Scholar grant from the MU
Thompson Center for Autism and Neurodevelopmental Disorders, the
Department of Radiology Research Investment Fund at the University of
Missouri, and the University of Missouri Life Sciences Predoctoral
Fellowship.
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NR 85
TC 0
Z9 0
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 530 WALNUT STREET, STE 850, PHILADELPHIA, PA 19106 USA
SN 1380-3395
EI 1744-411X
J9 J CLIN EXP NEUROPSYC
JI J. Clin. Exp. Neuropsychol.
PD APR 21
PY 2014
VL 36
IS 4
BP 431
EP 445
DI 10.1080/13803395.2014.904844
PG 15
WC Psychology, Clinical; Clinical Neurology; Psychology
SC Psychology; Neurosciences & Neurology
GA AH0YS
UT WOS:000335847300009
PM 24730708
ER
PT J
AU Breitenkamp, AFS
Matthes, J
Nass, RD
Sinzig, J
Lehmkuhl, G
Nurnberg, P
Herzig, S
AF Breitenkamp, Alexandra F. S.
Matthes, Jan
Nass, Robert Daniel
Sinzig, Judith
Lehmkuhl, Gerd
Nuernberg, Peter
Herzig, Stefan
TI Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected
Families Alter Calcium Channel Function
SO PLOS ONE
LA English
DT Article
ID GATED CA2+ CHANNELS; BETA-SUBUNITS; TIMOTHY-SYNDROME; HUMAN HEART;
EXPRESSION; DISORDERS; GENETICS; LOCALIZATION; INACTIVATION;
HETEROGENEITY
AB Autism Spectrum Disorders (ASD) are complex neurodevelopmental diseases clinically defined by dysfunction of social interaction. Dysregulation of cellular calcium homeostasis might be involved in ASD pathogenesis, and genes coding for the L-type calcium channel subunits Ca(V)1.2 (CACNA1C) and Ca-V beta 2 (CACNB2) were recently identified as risk loci for psychiatric diseases. Here, we present three rare missense mutations of CACNB2 (G167S, S197F, and F240L) found in ASD-affected families, two of them described here for the first time (G167S and F240L). All these mutations affect highly conserved regions while being absent in a sample of ethnically matched controls. We suggest the mutations to be of physiological relevance since they modulate whole-cell Ba2+ currents through calcium channels when expressed in a recombinant system (HEK-293 cells). Two mutations displayed significantly decelerated time-dependent inactivation as well as increased sensitivity of voltage-dependent inactivation. In contrast, the third mutation (F240L) showed significantly accelerated time-dependent inactivation. By altering the kinetic parameters, the mutations are reminiscent of the CACNA1C mutation causing Timothy Syndrome, a Mendelian disease presenting with ASD. In conclusion, the results of our first-time biophysical characterization of these three rare CACNB2 missense mutations identified in ASD patients support the hypothesis that calcium channel dysfunction may contribute to autism.
C1 [Breitenkamp, Alexandra F. S.; Matthes, Jan; Nass, Robert Daniel; Herzig, Stefan] Univ Cologne, Dept Pharmacol, D-50931 Cologne, Germany.
[Sinzig, Judith] LVR Klin Bonn, Dept Child & Adolescent Psychiat & Psychotherapy, Bonn, Germany.
[Sinzig, Judith; Lehmkuhl, Gerd] Univ Cologne, Dept Child & Adolescent Psychiat & Psychotherapy, D-50931 Cologne, Germany.
[Nuernberg, Peter] Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany.
[Herzig, Stefan] Univ Cologne, Ctr Mol Med, D-50931 Cologne, Germany.
RP Herzig, S (reprint author), Univ Cologne, Dept Pharmacol, D-50931 Cologne, Germany.
EM stefan.herzig@uni-koeln.de
FU "Koeln Fortune'' program and DFG [KF 20/2006, KF 93/2007]; German
Research Foundation [He 1578 15-1]
FX This study was supported by the "Koeln Fortune'' program (KF 20/2006 and
KF 93/2007) and DFG, the German Research Foundation, (He 1578 15-1). The
funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 47
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD APR 21
PY 2014
VL 9
IS 4
AR e95579
DI 10.1371/journal.pone.0095579
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AG2DX
UT WOS:000335227400080
PM 24752249
ER
PT J
AU Gibson, KA
AF Gibson, Katie Alexandra
TI Appreciating the world of autism through the lens of video interaction
guidance: an exploration of a parent's perceptions, experiences and
emerging narratives on autism
SO DISABILITY & SOCIETY
LA English
DT Article
DE narratives; parental efficacy; video interaction guidance; autism
spectrum disorder
ID SPECTRUM DISORDER; SELF-EFFICACY; MENTAL-HEALTH; CHILDREN; DISABILITY;
CONSTRUCTION; CHALLENGES; MOTHERS
AB This study seeks to identify understandings and narratives around autism spectrum disorder (ASD) through the application of video interaction guidance (VIG). In adopting a social constructionist approach, the case study used a person-centred model to explore a parent's experiences and emerging narratives of ASD through the lens of VIG. Findings of the current study suggest that VIG offers an effective tool for in-depth exploration of complex, multi-storied understandings of ASD and the perceived parental role. The intervention was perceived to promote greater awareness of the child's communication skills, beyond the 'common' understandings of ASD, by providing a novel outsider perspective on interactions. The intervention also promoted parental efficacy through recognition of parenting skills in supporting the development of strength-based narratives. VIG was seen to provide a platform for an exploration of existing narratives and the construction of new, preferred realities.
C1 Educ Psychol Serv, Stockton On Tees, England.
RP Gibson, KA (reprint author), Educ Psychol Serv, Stockton On Tees, England.
EM katie_short19@hotmail.com
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NR 55
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0968-7599
EI 1360-0508
J9 DISABIL SOC
JI Disabil. Soc.
PD APR 21
PY 2014
VL 29
IS 4
BP 568
EP 582
DI 10.1080/09687599.2013.844096
PG 15
WC Rehabilitation; Social Sciences, Interdisciplinary
SC Rehabilitation; Social Sciences - Other Topics
GA AF7PM
UT WOS:000334907000007
ER
PT J
AU Bernardini, S
Porayska-Pomsta, K
Smith, TJ
AF Bernardini, Sara
Porayska-Pomsta, Kaska
Smith, Tim J.
TI ECHOES: An intelligent serious game for fostering social communication
in children with autism
SO INFORMATION SCIENCES
LA English
DT Article
DE Virtual social partner; Pedagogical agent; Autonomous intelligent agent;
Artificial intelligence planning; Autism; Social communication
ID SPECTRUM DISORDERS; VIRTUAL ENVIRONMENTS; ADOLESCENTS; INSTRUCTION;
VOCABULARY; REALITY; AGENTS; MODEL
AB This paper presents ECHOES, a serious game built to help young children with autism spectrum conditions practice social communication skills. We focus on the design and implementation of the interactive learning activities, which take place in a two-dimensional sensory garden, and the autonomous virtual agent, which acts as a credible social partner to children with autism. Both the activities and the agent are based on principles of best autism practice and input from users. Specification guidelines are given for building an autonomous socially competent agent that supports learning in this context. We present experimental results pertaining to the effectiveness of the agent based on an extensive evaluation of the ECHOES platform, which show encouraging tendencies for a number of children. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Bernardini, Sara] Kings Coll London, Dept Informat, London WC2R 2LS, England.
[Porayska-Pomsta, Kaska] Inst Educ, London Knowledge Lab, London WC1N 3QS, England.
[Smith, Tim J.] Birkbeck Coll, Dept Psychol Sci, London WC1E 7HX, England.
RP Bernardini, S (reprint author), Kings Coll London, Dept Informat, London WC2R 2LS, England.
EM sara.bernardini@kcl.ac.uk
FU Engineering and Physical Sciences Research Council (EPSRC); Economic and
Social Sciences Researcher Council (ESRC) under the TLRP-TEL programme
[RES-139-25-0395-A]
FX The ECHOES project has been funded jointly by the Engineering and
Physical Sciences Research Council (EPSRC) and Economic and Social
Sciences Researcher Council (ESRC) under the TLRP-TEL programme, Grant
No.: RES-139-25-0395-A. We thank all the other members of the ECHOES
project (A. Alcorn, K. Avramides, J. Chen, M.E. Foster, C. Frauenberger,
J. Good, K. Guldberg, W. Keay-Bright, C. Kossyvaki, O. Lemon, L
Mademtzi, R. Menzies, H. Pain, T. Rajendran, A. Waller, and S. Wass) for
their contribution to the construction of the system and its evaluation.
We are also very grateful to all the teachers, children and parents who
have participated in the project for their insightful suggestions and
their involvement in the game's evaluation.
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NR 72
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0020-0255
EI 1872-6291
J9 INFORM SCIENCES
JI Inf. Sci.
PD APR 20
PY 2014
VL 264
BP 41
EP 60
DI 10.1016/j.ins.2013.10.027
PG 20
WC Computer Science, Information Systems
SC Computer Science
GA AD8BW
UT WOS:000333492500005
ER
PT J
AU Gee, CE
Peterlik, D
Neuhauser, C
Bouhelal, R
Kaupmann, K
Laue, G
Uschold-Schmidt, N
Feuerbach, D
Zimmermann, K
Ofner, S
Cryan, JF
van der Putten, H
Fendt, M
Vranesic, I
Glatthar, R
Flor, PJ
AF Gee, Christine E.
Peterlik, Daniel
Neuhaeuser, Christoph
Bouhelal, Rochdi
Kaupmann, Klemens
Laue, Grit
Uschold-Schmidt, Nicole
Feuerbach, Dominik
Zimmermann, Kaspar
Ofner, Silvio
Cryan, John F.
van der Putten, Herman
Fendt, Markus
Vranesic, Ivo
Glatthar, Ralf
Flor, Peter J.
TI Blocking Metabotropic Glutamate Receptor Subtype 7 ( mGlu7) via the
Venus Flytrap Domain ( VFTD) Inhibits Amygdala Plasticity, Stress, and
Anxiety-related Behavior
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
DE Glutamate Receptors Metabotropic; Neurotransmitter Release;
Pharmacology; Stress; Synaptic Plasticity; Elevated Plus-Maze; Fear
Conditioning; XAP044
ID PROTEIN-COUPLED RECEPTORS; CENTRAL-NERVOUS-SYSTEM; NEGATIVE ALLOSTERIC
MODULATOR; CELL-DEPENDENT PLASTICITY; IN-VITRO; PHARMACOLOGICAL
CHARACTERIZATION; LATERAL AMYGDALA; RELEASE SITES; MICE LACKING;
ACTIVATION
AB Background: Behavioral genetics identified mGlu7 as a key regulator of brain emotion circuits. Results: An mGlu7-selective, Venus flytrap domain (VFTD)-directed antagonist inhibits fear, synaptic plasticity, stress, and anxiety in rodents. Conclusion: Pharmacological blockers of mGlu7 may represent promising future anxiolytics and antidepressants in man. Significance: The VFTD region of class C GPCRs provides a promising target for computer-assisted drug design.
The metabotropic glutamate receptor subtype 7 (mGlu7) is an important presynaptic regulator of neurotransmission in the mammalian CNS. mGlu7 function has been linked to autism, drug abuse, anxiety, and depression. Despite this, it has been difficult to develop specific blockers of native mGlu7 signaling in relevant brain areas such as amygdala and limbic cortex. Here, we present the mGlu7-selective antagonist 7-hydroxy-3-(4-iodophenoxy)-4H-chromen-4-one (XAP044), which inhibits lateral amygdala long term potentiation (LTP) in brain slices from wild type mice with a half-maximal blockade at 88 nm. There was no effect of XAP044 on LTP of mGlu7-deficient mice, indicating that this pharmacological effect is mGlu7-dependent. Unexpectedly and in contrast to all previous mGlu7-selective drugs, XAP044 does not act via the seven-transmembrane region but rather via a binding pocket localized in mGlu7's extracellular Venus flytrap domain, a region generally known for orthosteric agonist binding. This was shown by chimeric receptor studies in recombinant cell line assays. XAP044 demonstrates good brain exposure and wide spectrum anti-stress and antidepressant- and anxiolytic-like efficacy in rodent behavioral paradigms. XAP044 reduces freezing during acquisition of Pavlovian fear and reduces innate anxiety, which is consistent with the phenotypes of mGlu7-deficient mice, the results of mGlu7 siRNA knockdown studies, and the inhibition of amygdala LTP by XAP044. Thus, we present an mGlu7 antagonist with a novel molecular mode of pharmacological action, providing significant application potential in psychiatry. Modeling the selective interaction between XAP044 and mGlu7's Venus flytrap domain, whose three-dimensional structure is already known, will facilitate future drug development supported by computer-assisted drug design.
C1 [Gee, Christine E.; Bouhelal, Rochdi; Kaupmann, Klemens; Laue, Grit; Feuerbach, Dominik; Zimmermann, Kaspar; Ofner, Silvio; Cryan, John F.; van der Putten, Herman; Fendt, Markus; Vranesic, Ivo; Glatthar, Ralf; Flor, Peter J.] Novartis AG, Novartis Inst BioMed Res, CH-4057 Basel, Switzerland.
[Gee, Christine E.] Univ Med Ctr Hamburg Eppendorf, Ctr Mol Neurobiol Hamburg, D-20249 Hamburg, Germany.
[Peterlik, Daniel; Neuhaeuser, Christoph; Uschold-Schmidt, Nicole; Flor, Peter J.] Univ Regensburg, Fac Biol & Preclin Med, Lab Mol & Cellular Neurobiol, D-93053 Regensburg, Germany.
[Cryan, John F.] Natl Univ Ireland Univ Coll Cork, Dept Anat & Neurosci, Cork, Ireland.
[Fendt, Markus] Univ Magdeburg, Inst Pharmacol & Toxicol, D-39120 Magdeburg, Germany.
[Fendt, Markus] Univ Magdeburg, Ctr Behav Brain Sci, D-39120 Magdeburg, Germany.
RP Glatthar, R (reprint author), Novartis Pharma AG, CH-4057 Basel, Switzerland.
EM ralf.glatthar@novartis.com; peter.flor@biologie.uni-regensburg.de
FU German Research Foundation [FL 729/2-1]
FX Supported by Grant FL 729/2-1 from the German Research Foundation. To
whom correspondence may be addressed: Faculty of Biology and Preclinical
Medicine, University of Regensburg, D-93053 Regensburg, Germany. Tel.:
49-941-3079; Fax: 49-941-3052; E-mail:
peter.flor@biologie.uni-regensburg.de.
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NR 63
TC 5
Z9 5
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
SN 0021-9258
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD APR 18
PY 2014
VL 289
IS 16
BP 10975
EP 10987
DI 10.1074/jbc.M113.542654
PG 13
WC Biochemistry & Molecular Biology
SC Biochemistry & Molecular Biology
GA AF3UT
UT WOS:000334638500004
PM 24596089
ER
PT J
AU Zalla, T
Amsellem, F
Chaste, P
Ervas, F
Leboyer, M
Champagne-Lavau, M
AF Zalla, Tiziana
Amsellem, Frederique
Chaste, Pauline
Ervas, Francesca
Leboyer, Marion
Champagne-Lavau, Maud
TI Individuals with Autism Spectrum Disorders Do Not Use Social Stereotypes
in Irony Comprehension
SO PLOS ONE
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; COMPUTER-MEDIATED COMMUNICATION;
ASPERGER-SYNDROME; DIAGNOSTIC INTERVIEW; VERBAL IRONY; FAUX PAS;
CHILDREN; MIND; LANGUAGE; SYNDROME.
AB Social and communication impairments are part of the essential diagnostic criteria used to define Autism Spectrum Disorders (ASDs). Difficulties in appreciating non-literal speech, such as irony in ASDs have been explained as due to impairments in social understanding and in recognizing the speaker's communicative intention. It has been shown that social-interactional factors, such as a listener's beliefs about the speaker's attitudinal propensities (e.g., a tendency to use sarcasm, to be mocking, less sincere and more prone to criticism), as conveyed by an occupational stereotype, do influence a listener's interpretation of potentially ironic remarks. We investigate the effect of occupational stereotype on irony detection in adults with High Functioning Autism or Asperger Syndrome (HFA/AS) and a comparison group of typically developed adults. We used a series of verbally presented stories containing ironic or literal utterances produced by a speaker having either a "sarcastic'' or a "non-sarcastic'' occupation. Although individuals with HFA/AS were able to recognize ironic intent and occupational stereotypes when the latter are made salient, stereotype information enhanced irony detection and modulated its social meaning (i.e., mockery and politeness) only in comparison participants. We concluded that when stereotype knowledge is not made salient, it does not automatically affect pragmatic communicative processes in individuals with HFA/AS.
C1 [Zalla, Tiziana; Ervas, Francesca] Ecole Normale Super, CNRS, Inst Jean Nicod, Inst Etud Cognit,UMR 8129, Paris, France.
[Amsellem, Frederique; Chaste, Pauline; Leboyer, Marion] Hop Henri Mondor, INSERM, IMRB, U955, F-94010 Creteil, France.
[Amsellem, Frederique; Chaste, Pauline; Leboyer, Marion] Univ Paris Est Creteil, Henri Mondor Albert Chenevier Hosp, AP HP, Dept Psychiat,Fdn FondaMental,French Natl Sci Fdn, Creteil, France.
[Champagne-Lavau, Maud] Aix Marseille Univ, CNRS, LPL UMR 7309, F-13100 Aix En Provence, France.
RP Zalla, T (reprint author), Ecole Normale Super, CNRS, Inst Jean Nicod, Inst Etud Cognit,UMR 8129, Paris, France.
EM tiziana.zalla@ens.fr
FU Fondation FondaMental and Fondation Orange; "Ville de Paris'' research
grant; Fonds de la Recherche en Sante du Quebec grant; Agence Nationale
de la Recherche grant [ANR-11-BSH2-006-01]
FX This research was supported by Fondation FondaMental and Fondation
Orange to TZ and ML, and by a "Ville de Paris'' research grant to FE,
and by a Fonds de la Recherche en Sante du Quebec grant and the Agence
Nationale de la Recherche grant ( ANR-11-BSH2-006-01) to MC-L. The
funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 48
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD APR 18
PY 2014
VL 9
IS 4
AR e95568
DI 10.1371/journal.pone.0095568
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AG2DP
UT WOS:000335226500124
PM 24748103
ER
PT J
AU Siniscalco, D
Bradstreet, JJ
Cirillo, A
Antonucci, N
AF Siniscalco, Dario
Bradstreet, James Jeffrey
Cirillo, Alessandra
Antonucci, Nicola
TI The in vitro GcMAF effects on endocannabinoid system transcriptionomics,
receptor formation, and cell activity of autism-derived macrophages
SO JOURNAL OF NEUROINFLAMMATION
LA English
DT Article
DE GcMAF; Endocannabinoids; Gene expression; Macrophages; Autism
ID HUMAN PERIPHERAL-BLOOD; VITAMIN-D; ACTIVATING FACTOR; SPECTRUM
DISORDERS; VITAMIN-D-3-BINDING PROTEIN; CHILDREN; ANGIOGENESIS;
AUTOIMMUNITY; EXPRESSION; BINDING
AB Background: Immune system dysregulation is well-recognized in autism and thought to be part of the etiology of this disorder. The endocannabinoid system is a key regulator of the immune system via the cannabinoid receptor type 2 (CB2R) which is highly expressed on macrophages and microglial cells. We have previously published significant differences in peripheral blood mononuclear cell CB2R gene expression in the autism population. The use of the Gc protein-derived Macrophage Activating Factor (GcMAF), an endogenous glycosylated vitamin D binding protein responsible for macrophage cell activation has demonstrated positive effects in the treatment of autistic children. In this current study, we investigated the in vitro effects of GcMAF treatment on the endocannabinoid system gene expression, as well as cellular activation in blood monocyte-derived macrophages (BMDMs) from autistic patients compared to age-matched healthy developing controls.
Methods: To achieve these goals, we used biomolecular, biochemical and immunocytochemical methods.
Results: GcMAF treatment was able to normalize the observed differences in dysregulated gene expression of the endocannabinoid system of the autism group. GcMAF also down-regulated the over-activation of BMDMs from autistic children.
Conclusions: This study presents the first observations of GcMAF effects on the transcriptionomics of the endocannabinoid system and expression of CB2R protein. These data point to a potential nexus between endocannabinoids, vitamin D and its transporter proteins, and the immune dysregulations observed with autism.
C1 [Siniscalco, Dario] Univ Naples 2, Dept Expt Med, I-80138 Naples, Italy.
[Siniscalco, Dario] Ctr Autism La Forza Silenzio, I-81036 Caserta, Italy.
[Siniscalco, Dario] Cancellautismo No Profit Assoc Autism Care, I-50132 Florence, Italy.
[Bradstreet, James Jeffrey] Brain Treatment Ctr Atlanta, Atlanta, GA 30518 USA.
[Bradstreet, James Jeffrey] Western Univ Hlth Sci, Pomona, CA 91766 USA.
[Cirillo, Alessandra] Natl Res Council Italy, Inst Biosci & Bioresources, I-80128 Naples, Italy.
[Antonucci, Nicola] Biomed Ctr Autism Res & Treatment, I-70126 Bari, Italy.
RP Siniscalco, D (reprint author), Univ Naples 2, Dept Expt Med, Via S Maria di Costantinopoli 16, I-80138 Naples, Italy.
EM dariosin@uab.edu
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NR 62
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1742-2094
J9 J NEUROINFLAMM
JI J. Neuroinflamm.
PD APR 17
PY 2014
VL 11
AR 78
DI 10.1186/1742-2094-11-78
PG 11
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AF8HE
UT WOS:000334955600001
PM 24739187
ER
PT J
AU Lugo, JN
Smith, GD
Arbuckle, EP
White, J
Holley, AJ
Floruta, CM
Ahmed, N
Gomez, MC
Okonkwo, O
AF Lugo, Joaquin N.
Smith, Gregory D.
Arbuckle, Erin P.
White, Jessika
Holley, Andrew J.
Floruta, Crina M.
Ahmed, Nowrin
Gomez, Maribel C.
Okonkwo, Obi
TI Deletion of PTEN produces autism-like behavioral deficits and
alterations in synaptic proteins
SO FRONTIERS IN MOLECULAR NEUROSCIENCE
LA English
DT Article
DE Pten; PI3K/AKT/mTOR; FMRP; Kv4.2; autism spectrum disorders; autism;
repetitive behavior; mGluR
ID FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; TUBEROUS SCLEROSIS
COMPLEX; LHERMITTE-DUCLOS-DISEASE; KNOCKOUT MOUSE MODEL; SPECTRUM
DISORDERS; POTASSIUM CHANNELS; SOCIAL-INTERACTION; PYRAMIDAL NEURONS;
MAMMALIAN TARGET
AB Many genes have been implicated in the underlying cause of autism but each gene accounts for only a small fraction of those diagnosed with autism. There is increasing evidence that activity-dependent changes in neuronal signaling could act as a convergent mechanism for many of the changes in synaptic proteins. One candidate signaling pathway that may have a critical role in autism is the PI3K/AKT/mTOR pathway. A major regulator of this pathway is the negative repressor phosphatase and tensin homolog (PTEN). In the current study we examined the behavioral and molecular consequences in mice with neuron subset-specific deletion of PTEN. The knockout (KO) mice showed deficits in social chamber and social partition test. KO mice demonstrated alterations in repetitive behavior, as measured in the marble burying test and hole-board test. They showed no changes in ultrasonic vocalizations emitted on postnatal day 10 or 12 compared to wildtype (WT) mice. They exhibited less anxiety in the elevated-plus maze test and were more active in the open field test compared to WT mice. In addition to the behavioral alterations, KO mice had elevation of phosphorylated AKT, phosphorylated S6, and an increase in S6K. KO mice had a decrease in mGluR but an increase in total and phosphorylated fragile X mental retardation protein. The disruptions in intracellular signaling may be why the KO mice had a decrease in the dendritic potassium channel Kv4.2 and a decrease in the synaptic scaffolding proteins PSD-95 and SAP102. These findings demonstrate that deletion of PTEN results in long-term alterations in social behavior, repetitive behavior, activity, and anxiety. In addition, deletion of PTEN significantly alters mGluR signaling and many synaptic proteins in the hippocampus. Our data demonstrates that deletion of PTEN can result in many of the behavioral features of autism and may provide insights into the regulation of intracellular signaling on synaptic proteins.
C1 [Lugo, Joaquin N.; White, Jessika; Holley, Andrew J.; Floruta, Crina M.; Ahmed, Nowrin; Gomez, Maribel C.; Okonkwo, Obi] Baylor Univ, Dept Psychol & Neurosci, Waco, TX 76798 USA.
[Lugo, Joaquin N.; Smith, Gregory D.; Arbuckle, Erin P.] Baylor Univ, Inst Biomed Studies, Waco, TX 76798 USA.
RP Lugo, JN (reprint author), Baylor Univ, Dept Psychol & Neurosci, One Bear Pl 97334, Waco, TX 76798 USA.
EM joaquin_lugo@baylor.edu
FU Baylor University Research Council grant; Baylor University Young
Investigator Developmental Program grant; Epilepsy Foundation
FX This study was supported from a Baylor University Research Council
grant, Baylor University Young Investigator Developmental Program grant,
and a research grant from the Epilepsy Foundation. We would also like to
acknowledge the Baylor University Molecular Biosciences Center for the
use of equipment used for this study and to acknowledge Dr, Brad Keele
for the use of the Noldus Ethovision equipment for the behavioral
studies.
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NR 51
TC 5
Z9 5
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5099
J9 FRONT MOL NEUROSCI
JI Front. Molec. Neurosci.
PD APR 16
PY 2014
VL 7
AR 27
DI 10.3389/fnmol.2014.00027
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AZ0YT
UT WOS:000347968500001
PM 24795561
ER
PT J
AU Fusaro, VA
Daniels, J
Duda, M
DeLuca, TF
D'Angelo, O
Tamburello, J
Maniscalco, J
Wall, DP
AF Fusaro, Vincent A.
Daniels, Jena
Duda, Marlena
DeLuca, Todd F.
D'Angelo, Olivia
Tamburello, Jenna
Maniscalco, James
Wall, Dennis P.
TI The Potential of Accelerating Early Detection of Autism through Content
Analysis of YouTube Videos
SO PLOS ONE
LA English
DT Article
ID DIAGNOSTIC OBSERVATION SCHEDULE; SPECTRUM DISORDER; HOME VIDEOTAPES;
HIGH-RISK; INFANTS; CHILDREN; AGE; TODDLERS; PATTERNS; 1ST
AB Autism is on the rise, with 1 in 88 children receiving a diagnosis in the United States, yet the process for diagnosis remains cumbersome and time consuming. Research has shown that home videos of children can help increase the accuracy of diagnosis. However the use of videos in the diagnostic process is uncommon. In the present study, we assessed the feasibility of applying a gold-standard diagnostic instrument to brief and unstructured home videos and tested whether video analysis can enable more rapid detection of the core features of autism outside of clinical environments. We collected 100 public videos from YouTube of children ages 1-15 with either a self-reported diagnosis of an ASD (N = 45) or not (N = 55). Four non-clinical raters independently scored all videos using one of the most widely adopted tools for behavioral diagnosis of autism, the Autism Diagnostic Observation Schedule-Generic (ADOS). The classification accuracy was 96.8%, with 94.1% sensitivity and 100% specificity, the inter-rater correlation for the behavioral domains on the ADOS was 0.88, and the diagnoses matched a trained clinician in all but 3 of 22 randomly selected video cases. Despite the diversity of videos and non-clinical raters, our results indicate that it is possible to achieve high classification accuracy, sensitivity, and specificity as well as clinically acceptable inter-rater reliability with nonclinical personnel. Our results also demonstrate the potential for video-based detection of autism in short, unstructured home videos and further suggests that at least a percentage of the effort associated with detection and monitoring of autism may be mobilized and moved outside of traditional clinical environments.
C1 [Fusaro, Vincent A.; Daniels, Jena; Duda, Marlena; DeLuca, Todd F.; D'Angelo, Olivia; Tamburello, Jenna; Maniscalco, James; Wall, Dennis P.] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA 02138 USA.
[Wall, Dennis P.] Beth Israel Deaconess Med Ctr, Dept Pathol, Boston, MA 02215 USA.
[Daniels, Jena; Duda, Marlena; Wall, Dennis P.] Stanford Univ, Dept Pediat, Div Syst Med, Stanford, CA 94305 USA.
RP Wall, DP (reprint author), Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA 02138 USA.
EM dpwall@stanford.edu
FU Simons Foundation; Nancy Lurie Marks Family Foundation; Harvard Catalyst
Program; National Institutes of Health [1R01MH090611-01A1]; National
Library of Medicine [1K99LM011020-01]
FX Work was supported in part by funds to DPW from the Simons Foundation,
Nancy Lurie Marks Family Foundation, the Harvard Catalyst Program, and
grant 1R01MH090611-01A1 from the National Institutes of Health. VAF was
supported by grant 1K99LM011020-01 from the National Library of
Medicine. The funders had no role in study design, data collection and
analysis, decision to publish, or preparation of the manuscript.
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NR 25
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD APR 16
PY 2014
VL 9
IS 4
AR e93533
DI 10.1371/journal.pone.0093533
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AI4VW
UT WOS:000336863900022
PM 24740236
ER
PT J
AU Hemmat, M
Rumple, MJ
Mahon, LW
Strom, CM
Anguiano, A
Talai, M
Nguyen, B
Boyar, FZ
AF Hemmat, Morteza
Rumple, Melissa J.
Mahon, Loretta W.
Strom, Charles M.
Anguiano, Arturo
Talai, Maryam
Bryant Nguyen
Boyar, Fatih Z.
TI Short stature, digit anomalies and dysmorphic facial features are
associated with the duplication of miR-17 similar to 92 cluster
SO MOLECULAR CYTOGENETICS
LA English
DT Article
DE miRNA; MIR17HG; miR-17 similar to 92; GCP5; Digital anomaly; Skeletal
defects
ID POLYDACTYLY TYPE A2; MICRORNA CLUSTER; MALIGNANT-LYMPHOMA; EXPRESSION;
PROLIFERATION; AMPLIFICATION; PROGRESSION; DELETION; CANCERS; FAMILY
AB MicroRNAs (miRNAs) are key regulators of gene expression, playing important roles in development, homeostasis, and disease. Recent experimental evidence indicates that mutation or deregulation of the MIR17HG gene (miR-17 similar to 92 cluster) contributes to the pathogenesis of a variety of human diseases, including cancer and congenital developmental defects. We report on a 9-year-old boy who presented with developmental delay, autism spectrum disorder, short stature, mild macrocephaly, lower facial weakness, hypertelorism, downward slanting palpebral fissures, brachydactyly, and clinodactyly. SNP-microarray analysis revealed 516 kb microduplication at 13q31.3 involving the entire MIR17HG gene encoding the miR-17 similar to 92 polycistronic miRNA cluster, and the first five exons of the GPC5 gene. Family study confirmed that the microduplication was maternally inherited by the proband and one of his five half-brothers; digit and other skeletal anomalies were exclusive to the family members harboring the microduplication.
This case represents the smallest reported microduplication to date at 13q31.3 and provides evidence supporting the important role of miR-17 similar to 92 gene dosage in normal growth and skeletal development. We postulate that any dosage abnormality of MIR17HG, either deletion or duplication, is sufficient to interrupt skeletal developmental pathway, with variable outcome from growth retardation to overgrowth.
C1 [Hemmat, Morteza; Strom, Charles M.; Anguiano, Arturo; Talai, Maryam; Bryant Nguyen; Boyar, Fatih Z.] Quest Diagnost, Dept Cytogenet, San Juan Capistrano, CA 92675 USA.
[Rumple, Melissa J.] Banner Child Neurol, Glendale, AZ 85306 USA.
[Mahon, Loretta W.] Quest Diagnost, Los Angeles, CA 91304 USA.
RP Hemmat, M (reprint author), Quest Diagnost, Dept Cytogenet, 33608 Ortega Hwy, San Juan Capistrano, CA 92675 USA.
EM morteza.x.hemmat@questdiagnostics.com
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NR 25
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1755-8166
J9 MOL CYTOGENET
JI Mol. Cytogenet.
PD APR 16
PY 2014
VL 7
AR 27
DI 10.1186/1755-8166-7-27
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA AG3TX
UT WOS:000335343800001
PM 24739087
ER
PT J
AU Galicia-Connolly, E
Adams, D
Bateman, J
Dagenais, S
Clifford, T
Baydala, L
King, WJ
Vohra, S
AF Galicia-Connolly, Elaine
Adams, Denise
Bateman, Justin
Dagenais, Simon
Clifford, Tammy
Baydala, Lola
King, W. James
Vohra, Sunita
TI CAM Use in Pediatric Neurology: An Exploration of Concurrent Use with
Conventional Medicine
SO PLOS ONE
LA English
DT Article
ID DEFICIT HYPERACTIVITY DISORDER; ALTERNATIVE MEDICINE; SPECTRUM DISORDER;
THERAPY USE; COMPLEMENTARY; CHILDREN; EPILEPSY; CANCER; ILLNESS; AUTISM
AB Background: Previous studies have found that up to 60% of children with neurologic conditions have tried complementary and alternative medicine (CAM).
Objective: To assess the use of CAM among patients presenting to neurology clinics at two academic centers in Canada.
Methods: A survey instrument was developed to inquire about use of CAM products and therapies, including reasons for use, perceived helpfulness, and concurrent use with conventional medicine, and administered to patients or their parents/guardians at the Stollery Children's Hospital in Edmonton and the Children's Hospital of Eastern Ontario (CHEO) in Ottawa.
Results: Overall CAM use at the Stollery was 78%, compared to 48% at CHEO. The most common CAM products used were multi-vitamins (84%), vitamin C (37%), homeopathic remedies (24%), and fish oil/omega 3 s (22%). The most common CAM practices used were massage (47%), chiropractic (37%), faith healing (18%), aromatherapy (16%), homeopathy (16%), and relaxation (16%). Many patients used CAM products at the same time as conventional medicine but just over half (57%) discussed this concurrent use with their physician.
Conclusion: CAM use is common in pediatric neurology patients and most respondents felt that it was helpful, with few or no harms associated. However, this use is often undisclosed, increasing possibility of interactions with conventional drugs. We urge clinicians to inquire about CAM use during routine history taking at every patient visit. Parents would clearly like more information about CAM from their specialty clinics; such information would be easier to share if more primary data were available about the safety and effectiveness of commonly used therapies.
C1 [Galicia-Connolly, Elaine; Adams, Denise] Univ Alberta, Dept Pediat, CARE Program, Edmonton, AB, Canada.
[Bateman, Justin] Univ Alberta, Fac Med & Dent, Edmonton, AB, Canada.
[Dagenais, Simon] Palladian Hlth, West Seneca, NY USA.
[Clifford, Tammy] Univ Ottawa, Dept Pediat, Ottawa, ON K1N 6N5, Canada.
[Clifford, Tammy] Univ Ottawa, Dept Epidemiol & Community Med, Ottawa, ON, Canada.
[Clifford, Tammy] Canadian Agcy Drugs & Technol Hlth, Ottawa, ON, Canada.
[Clifford, Tammy; Baydala, Lola] Univ Alberta, Dept Pediat, Fac Med & Dent, Edmonton, AB, Canada.
[King, W. James] Univ Ottawa, Dept Pediat, Div Pediat Med, Ottawa, ON K1N 6N5, Canada.
[King, W. James] Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
[Vohra, Sunita] Univ Alberta, Dept Pediat, PedCAM Network, Fac Med & Dent,CARE Program, Edmonton, AB, Canada.
[Vohra, Sunita] Univ Alberta, Sch Publ Hlth, Edmonton, AB, Canada.
RP Vohra, S (reprint author), Univ Alberta, Dept Pediat, PedCAM Network, Fac Med & Dent,CARE Program, Edmonton, AB, Canada.
EM svohra@ualberta.ca
FU SickKids Foundation; Alberta Innovates-Health Solutions
FX This project was supported by a grant from the SickKids Foundation.
Sunita Vohra receives salary support from Alberta Innovates-Health
Solutions (formerly Alberta Heritage Foundation for Medical Research),
which is a government agency that supports research in Alberta. The
funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 37
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD APR 15
PY 2014
VL 9
IS 4
AR e94078
DI 10.1371/journal.pone.0094078
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AI5PW
UT WOS:000336922600043
PM 24736474
ER
PT J
AU Lin, MY
Zhao, DJ
Hrabovsky, A
Pedrosa, E
Zheng, DY
Lachman, HM
AF Lin, Mingyan
Zhao, Dejian
Hrabovsky, Anastasia
Pedrosa, Erika
Zheng, Deyou
Lachman, Herbert M.
TI Heat Shock Alters the Expression of Schizophrenia and Autism Candidate
Genes in an Induced Pluripotent Stem Cell Model of the Human
Telencephalon
SO PLOS ONE
LA English
DT Article
ID CARDIO-FACIAL SYNDROME; MATERNAL IMMUNE ACTIVATION; NERVE GROWTH-FACTOR;
GENOME-WIDE ASSOCIATION; COPY NUMBER VARIATIONS; SPECTRUM DISORDERS;
PREFRONTAL CORTEX; BIPOLAR DISORDER; NEUROTROPHIC FACTOR;
ALZHEIMERS-DISEASE
AB Schizophrenia (SZ) and autism spectrum disorders (ASD) are highly heritable neuropsychiatric disorders, although environmental factors, such as maternal immune activation (MIA), play a role as well. Cytokines mediate the effects of MIA on neurogenesis and behavior in animal models. However, MIA stimulators can also induce a febrile reaction, which could have independent effects on neurogenesis through heat shock (HS)-regulated cellular stress pathways. However, this has not been well-studied. To help understand the role of fever in MIA, we used a recently described model of human brain development in which induced pluripotent stem cells (iPSCs) differentiate into 3-dimensional neuronal aggregates that resemble a first trimester telencephalon. RNA-seq was carried out on aggregates that were heat shocked at 39 degrees C for 24 hours, along with their control partners maintained at 37 degrees C. 186 genes showed significant differences in expression following HS (p<0.05), including known HS-inducible genes, as expected, as well as those coding for NGFR and a number of SZ and ASD candidates, including SMARCA2, DPP10, ARNT2, AHI1 and ZNF804A. The degree to which the expression of these genes decrease or increase during HS is similar to that found in copy loss and copy gain copy number variants (CNVs), although the effects of HS are likely to be transient. The dramatic effect on the expression of some SZ and ASD genes places HS, and perhaps other cellular stressors, into a common conceptual framework with disease-causing genetic variants. The findings also suggest that some candidate genes that are assumed to have a relatively limited impact on SZ and ASD pathogenesis based on a small number of positive genetic findings, such as SMARCA2 and ARNT2, may in fact have a much more substantial role in these disorders - as targets of common environmental stressors.
C1 [Lin, Mingyan; Zheng, Deyou; Lachman, Herbert M.] Albert Einstein Coll Med, Dept Genet, Bronx, NY 10467 USA.
[Zhao, Dejian; Zheng, Deyou] Albert Einstein Coll Med, Dept Neurol, Bronx, NY 10467 USA.
[Hrabovsky, Anastasia; Pedrosa, Erika; Lachman, Herbert M.] Albert Einstein Coll Med, Dept Psychiat & Behav Sci, Bronx, NY 10467 USA.
[Zheng, Deyou; Lachman, Herbert M.] Albert Einstein Coll Med, Dominick Purpura Dept Neurosci, Bronx, NY 10467 USA.
[Lachman, Herbert M.] Albert Einstein Coll Med, Dept Med, Bronx, NY 10467 USA.
RP Zheng, DY (reprint author), Albert Einstein Coll Med, Dept Genet, Bronx, NY 10467 USA.
EM deyou.zheng@einstein.yu.edu; herb.lachman@einstein.yu.edu
FU National Institute of Mental Health [MH073164, MH097893, MH087840]
FX This work was supported by the National Institute of Mental Health
(MH073164, MH097893 and MH087840). The funders had no role in study
design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 145
TC 2
Z9 2
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD APR 15
PY 2014
VL 9
IS 4
AR e94968
DI 10.1371/journal.pone.0094968
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AI5PW
UT WOS:000336922600115
PM 24736721
ER
PT J
AU Anagnostou, E
Zwaigenbaum, L
Szatmari, P
Fombonne, E
Fernandez, BA
Woodbury-Smith, M
Brian, J
Bryson, S
Smith, IM
Drmic, I
Buchanan, JA
Roberts, W
Scherer, SW
AF Anagnostou, Evdokia
Zwaigenbaum, Lonnie
Szatmari, Peter
Fombonne, Eric
Fernandez, Bridget A.
Woodbury-Smith, Marc
Brian, Jessica
Bryson, Susan
Smith, Isabel M.
Drmic, Irene
Buchanan, Janet A.
Roberts, Wendy
Scherer, Stephen W.
TI Autism spectrum disorder: advances in evidence-based practice
SO CANADIAN MEDICAL ASSOCIATION JOURNAL
LA English
DT Review
ID PERVASIVE DEVELOPMENTAL DISORDERS; SOCIAL COMMUNICATION QUESTIONNAIRE;
INTENSIVE BEHAVIORAL INTERVENTION; MODIFIED CHECKLIST; EARLY
IDENTIFICATION; MEDICAL DISORDERS; RISK-FACTORS; LARGE-SCALE; CHILDREN;
TODDLERS
C1 [Roberts, Wendy] Univ Toronto, Holland Bloorview Kids Rehabil Ctr, Toronto, ON, Canada.
[Anagnostou, Evdokia; Brian, Jessica] Univ Toronto, Bloorview Res Inst, Toronto, ON, Canada.
[Scherer, Stephen W.] Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada.
[Zwaigenbaum, Lonnie] Univ Alberta, Dept Pediat, Edmonton, AB, Canada.
[Szatmari, Peter] Hosp Sick Children, Dept Psychiat, Toronto, ON M5G 1X8, Canada.
[Drmic, Irene; Roberts, Wendy] Hosp Sick Children, Austism Res Unit, Toronto, ON M5G 1X8, Canada.
[Buchanan, Janet A.; Scherer, Stephen W.] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada.
[Szatmari, Peter] Ctr Addict & Mental Hlth, Dept Child & Adolescent Psychiat, Toronto, ON, Canada.
[Fombonne, Eric] Montreal Childrens Hosp, Dept Psychiat, Montreal, PQ H3H 1P3, Canada.
[Fombonne, Eric] McGill Univ, Montreal, PQ, Canada.
[Fernandez, Bridget A.] Mem Univ Newfoundland, Discipline Genet, St John, NF, Canada.
[Fernandez, Bridget A.] Mem Univ Newfoundland, Discipline Med, St John, NF, Canada.
[Woodbury-Smith, Marc] McMaster Univ, Hamilton, ON, Canada.
[Drmic, Irene] McMaster Univ, Offord Ctr Child Studies, Hamilton, ON, Canada.
[Bryson, Susan; Smith, Isabel M.] Dalhousie Univ, Halifax, NS, Canada.
[Bryson, Susan; Smith, Isabel M.] IWK Hlth Ctr, Autism Res Ctr, Halifax, NS, Canada.
RP Scherer, SW (reprint author), Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada.
EM eanagnostou@hollandbloorview.ca; stephen.scherer@sickkids.ca
RI Scherer, Stephen /B-3785-2013
OI Scherer, Stephen /0000-0002-8326-1999
FU University of Toronto McLaughlin Centre
FX Janet Buchanan's work on this article was supported by funds from the
University of Toronto McLaughlin Centre. Lonnie Zwaigenbaum holds the
Stollery Children's Hospital Foundation Chair in Autism. Peter Szatmari
holds the Jamie and Patsy Anderson Chair in Child and Youth Mental
Health at the Hospital for Sick Children, Centre for Addiction and
Mental Health and University of Toronto. Eric Fombonne holds the Monique
H. Bourgeois Chair for Research on Pervasive Developmental Disorders and
a Canada Research Chair in Child Psychiatry Tier I. Susan Bryson holds
the Joan and Jack Craig Chair in Autism Research at Dalhousie
University. Stephen Scherer holds the GlaxoSmithKline Canadian
Institutes of Health Research Pathfinder Chair in Genome Sciences at the
University of Toronto and the Hospital for Sick Children.
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NR 88
TC 4
Z9 4
PU CMA-CANADIAN MEDICAL ASSOC
PI OTTAWA
PA 1867 ALTA VISTA DR, OTTAWA, ONTARIO K1G 5W8, CANADA
SN 0820-3946
EI 1488-2329
J9 CAN MED ASSOC J
JI Can. Med. Assoc. J.
PD APR 15
PY 2014
VL 186
IS 7
BP 509
EP 519
DI 10.1503/cmaj.121756
PG 11
WC Medicine, General & Internal
SC General & Internal Medicine
GA AE9BJ
UT WOS:000334298500017
PM 24418986
ER
PT J
AU Lamperski, T
AF Lamperski, Terry
TI The Other Half of Asperger Syndrome (Autism Spectrum Disorder): A Guide
to Living in an Intimate Relationship with a Partner Who Is on the
Autism Spectrum
SO LIBRARY JOURNAL
LA English
DT Book Review
C1 [Lamperski, Terry] Carnegie Lib Pittsburgh, Pittsburgh, PA 15213 USA.
RP Lamperski, T (reprint author), Carnegie Lib Pittsburgh, Pittsburgh, PA 15213 USA.
CR ASTON M, 2014, OTHER HALF ASPERGER
NR 1
TC 0
Z9 0
PU REED BUSINESS INFORMATION
PI NEW YORK
PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010 USA
SN 0363-0277
J9 LIBR J
JI Libr. J.
PD APR 15
PY 2014
VL 139
IS 7
BP 98
EP 98
PG 1
WC Information Science & Library Science
SC Information Science & Library Science
GA AE8PJ
UT WOS:000334263500210
ER
PT J
AU Lazar, SM
Evans, DW
Myers, SM
Moreno-De Luca, A
Moore, GJ
AF Lazar, Steven M.
Evans, David W.
Myers, Scott M.
Moreno-De Luca, Andres
Moore, Gregory J.
TI Social cognition and neural substrates of face perception: Implications
for neurodevelopmental and neuropsychiatric disorders
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE FMRI; Face processing; Autism spectrum disorder; Social cognition;
Quantitative traits
ID HIGH-FUNCTIONING AUTISM; EVENT-RELATED POTENTIALS; NORMAL
SEX-DIFFERENCES; GENERAL-POPULATION; ASPERGER-SYNDROME; SYSTEMATIZING
QUOTIENT; INDIVIDUAL-DIFFERENCES; SPECTRUM DISORDERS;
MULTIPLE-INCIDENCE; CHILDRENS RITUALS
AB Background: Social cognition is an important aspect of social behavior in humans. Social cognitive deficits are associated with neurodevelopmental and neuropsychiatric disorders. In this study we examine the neural substrates of social cognition and face processing in a group of healthy young adults to examine the neural substrates of social cognition.
Methods: Fifty-seven undergraduates completed a battery of social cognition tasks and were assessed with electroencephalography (EEG) during a face-perception task. A subset (N=22) were administered a face-perception task during functional magnetic resonance imaging.
Results: Variance in the N170 EEG was predicted by social attribution performance and by a quantitative measure of empathy. Neurally, face processing was more bilateral in females than in males. Variance in fMRI voxel count in the face-sensitive fusiform gyrus was predicted by quantitative measures of social behavior, including the Social Responsiveness Scale (SRS) and the Empathizing Quotient.
Conclusions: When measured as a quantitative trait, social behaviors in typical and pathological populations share common neural pathways. The results highlight the importance of viewing neurodevelopmental and neuropsychiatric disorders as spectrum phenomena that may be informed by studies of the normal distribution of relevant traits in the general population. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Lazar, Steven M.; Evans, David W.; Myers, Scott M.; Moreno-De Luca, Andres; Moore, Gregory J.] Geisinger Bucknell Autism & Dev Med Ctr, Lewisburg, PA 17837 USA.
RP Evans, DW (reprint author), Geisinger Bucknell Autism & Dev Med Ctr, 120 Hamm Dr, Lewisburg, PA 17837 USA.
EM dwevans@bucknell.edu
FU Bucknell-Geisinger Research Initiative Grant (BGRI)
FX None of the authors reports any biomedical financial interests or
potential conflicts of interest. The authors acknowledge financial
support from the Bucknell-Geisinger Research Initiative Grant (BGRI),
awarded to DWE and GJM.
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NR 62
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD APR 15
PY 2014
VL 263
BP 1
EP 8
DI 10.1016/j.bbr.2014.01.010
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AE3NR
UT WOS:000333883700001
PM 24462962
ER
PT J
AU Merali, Z
Presti-Torres, J
MacKay, JC
Johnstone, J
Du, L
St-Jean, A
Levesque, D
Kent, P
Schwartsmann, G
Roesler, R
Schroder, N
Anisman, H
AF Merali, Z.
Presti-Torres, J.
MacKay, J. C.
Johnstone, J.
Du, L.
St-Jean, A.
Levesque, D.
Kent, P.
Schwartsmann, G.
Roesler, R.
Schroder, N.
Anisman, H.
TI Long-term behavioral effects of neonatal blockade of gastrin-releasing
peptide receptors in rats: Similarities to autism spectrum disorders
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Gastrin-releasing peptide receptor; RC-3095; Social interaction;
Restrictive behavior; Learned fear; Autism spectrum disorder
ID BOMBESIN-RELATED PEPTIDES; MEMORY CONSOLIDATION; NEURODEVELOPMENTAL
DISORDERS; ANTAGONIST RC-3095; EXTENDED AMYGDALA; CONDITIONED FEAR;
BIPOLAR DISORDER; CINGULATE CORTEX; SOCIAL APPROACH; MOUSE MODELS
AB Gastrin releasing peptide, the mammalian counterpart of the amphibian peptide, bombesin, has been increasingly implicated in regulating normal brain function as well as in the pathogenesis of psychiatric and/or neurodevelopmental disorders. We have previously shown that the neonatal blockade of the gastrin-releasing peptide receptor (GRPr) in rats produces long-lasting consequences during central nervous system development that are commonly observed in neurodevelopmental disorders such as autism spectrum disorders. The present investigation assessed in further detail, long-term behavioral effects of neonatal GRPr blockade. During postnatal days 1-10, male Wistar rat pups (n = 5-10/litter) were injected (subcutaneously) with the GRPr antagonist, RC-3095 (1 mg/kg), or a vehicle (control), twice daily. Following the drug treatment regimen, several behaviors were assessed (starting on postnatal day 14) including specific social behaviors (namely, group huddling characteristics, social interaction, and social approach), restrictive/repetitive and stereotyped behaviors (y-maze, repetitive novel object contact task, observation for stereotypies) and anxiety/fear-related responses (open field, elevated plus maze and contextual fear conditioning). Rats treated neonatally with RC-3095 showed reduced sociability, restrictive interests, motor stereotypies and enhanced learned fear response compared to the controls (vehicle-treated rats). These behavioral abnormalities are consistent with those observed in autism spectrum disorders and provide further evidence that neonatal blockade of GRPr could potentially serve as a useful model to gain a better understanding of the underlying neurodevelopmental disruptions contributing to the expression of autism-relevant phenotypes. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Merali, Z.; MacKay, J. C.; Johnstone, J.; St-Jean, A.; Levesque, D.; Kent, P.] Univ Ottawa, Sch Psychol, Ottawa, ON K1N 6N5, Canada.
[Merali, Z.] Univ Ottawa, Dept Psychiat, Ottawa, ON K1N 6N5, Canada.
[Merali, Z.] Univ Ottawa, Dept Cellular & Mol Med, Ottawa, ON K1N 6N5, Canada.
[Anisman, H.] Carleton Univ, Inst Neurosci, Ottawa, ON K1S 5B6, Canada.
[Merali, Z.; Presti-Torres, J.; MacKay, J. C.; Johnstone, J.; Du, L.; Kent, P.; Anisman, H.] Univ Ottawa, Mental Hlth Res Inst, Ottawa, ON K1Z 7K4, Canada.
[Presti-Torres, J.; Schroder, N.] Pontifical Catholic Univ, Neurobiol & Dev Biol Lab, BR-90619900 Porto Alegre, RS, Brazil.
[Schwartsmann, G.] Univ Fed Rio Grande do Sul, Sch Med, Dept Internal Med, BR-90035003 Porto Alegre, RS, Brazil.
[Schwartsmann, G.; Roesler, R.] Univ Fed Rio Grande do Sul, Univ Hosp Res Ctr CPE HCPA, Canc Res Lab, BR-90035003 Porto Alegre, RS, Brazil.
[Schwartsmann, G.; Roesler, R.; Schroder, N.] Natl Inst Translat Med INCT TM, BR-90035003 Porto Alegre, RS, Brazil.
[Roesler, R.] Univ Fed Rio Grande do Sul, Inst Basic Hlth Sci, Dept Pharmacol, Lab Neuropharmacol & Neural Tumor Biol, BR-90050170 Porto Alegre, RS, Brazil.
RP Merali, Z (reprint author), Univ Ottawa, Mental Hlth Res Inst, 1145 Carling Ave Rm 5432,Res Tower, Ottawa, ON K1Z 7K4, Canada.
EM merali@uottawa.ca
FU Canadian Institute of Health Research (CIHR); CNPq
FX Technical contributions of Sarah Paluck, Samantha Graitson, Kaitlin
Baenziger, Kelsey Johnston, Christian Cayer and Jonathan James are
gratefully acknowledged. This research was supported by the Canadian
Institute of Health Research (CIHR). J.P.T. is supported by a CNPq
fellowship.
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NR 104
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD APR 15
PY 2014
VL 263
BP 60
EP 69
DI 10.1016/j.bbr.2014.01.008
PG 10
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AE3NR
UT WOS:000333883700008
PM 24462726
ER
PT J
AU Kim, DS
Ross, PJ
Zaslavsky, K
Ellis, J
AF Kim, Dae-Sung
Ross, P. Joel
Zaslavsky, Kirill
Ellis, James
TI Optimizing neuronal differentiation from induced pluripotent stem cells
to model ASD
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Review
DE human pluripotent stem cells; neural differentiation; neocortical
neurons; disease modeling; autism spectrum disorders (ASD); cellular
phenotype
ID DEVELOPING CEREBRAL-CORTEX; AUTISM SPECTRUM DISORDERS;
PRADER-WILLI-SYNDROME; IPSC-DERIVED NEURONS; RETT-SYNDROME; DIRECTED
DIFFERENTIATION; HUMAN ES; NEURAL DEVELOPMENT; FUNCTIONAL MATURATION;
CORTICAL INTERNEURONS
AB Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder characterized by deficits in social communication, and restricted and repetitive patterns of behavior. Despite its high prevalence, discovery of pathophysiological mechanisms underlying ASD has lagged due to a lack of appropriate model systems. Recent advances in induced pluripotent stem cell (iPSC) technology and neural differentiation techniques allow for detailed functional analyses of neurons generated from living individuals with ASD. Refinement of cortical neuron differentiation methods from iPSCs will enable mechanistic studies of specific neuronal subpopulations that may be preferentially impaired in ASD. In this review, we summarize recent accomplishments in differentiation of cortical neurons from human pluripotent stems cells and efforts to establish in vitro model systems to study ASD using personalized neurons.
C1 [Kim, Dae-Sung; Ross, P. Joel; Zaslavsky, Kirill; Ellis, James] Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, Canada.
[Zaslavsky, Kirill; Ellis, James] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.
RP Ellis, J (reprint author), Hosp Sick Children, Peter Gilgan Ctr Res & Learning, Program Dev & Stem Cell Biol, Room 16-9-715,686 Bay St, Toronto, ON M5G 0A4, Canada.
EM jellis@sickkids.ca
RI Ellis, James/F-4789-2011
FU Canadian Institutes of Health Research [EPS-129129]; Ontario Brain
Institute; Canadian Institute for Military and Veteran Health Research
[W7714-125624/001/SV]; National Institutes of Health [R33MH087908];
National Research Foundation of Korea (NRF) - Ministry of Education,
Science and Technology [2012039296]; Ontario Stem Cell Initiative;
Canada Vanier Graduate Scholarship
FX The authors thank Wesley Lai and Ugljesa Djuric for comments on the
manuscript. This work was supported by grants from the Canadian
Institutes of Health Research (EPS-129129), the Ontario Brain Institute,
Canadian Institute for Military and Veteran Health Research
(W7714-125624/001/SV), and the National Institutes of Health
(R33MH087908). Dae-Sung Kim was supported by Basic Science Research
Program through the National Research Foundation of Korea (NRF) funded
by the Ministry of Education, Science and Technology (#2012039296). P.
Joel Ross was supported by postdoctoral fellowships from the Ontario
Stem Cell Initiative and Kirill Zaslavsky was funded by the Canada
Vanier Graduate Scholarship.
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NR 137
TC 6
Z9 6
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD APR 11
PY 2014
VL 8
AR 109
DI 10.3389/fncel.2014.00109
PG 16
WC Neurosciences
SC Neurosciences & Neurology
GA AE9PR
UT WOS:000334340600001
PM 24782713
ER
PT J
AU Gabryel, B
Kapalka, A
Sobczyk, W
Labuzek, K
Gaweda, A
Janas-Kozik, M
AF Gabryel, Bozena
Kapalka, Agata
Sobczyk, Wojciech
Labuzek, Krzysztof
Gaweda, Agnieszka
Janas-Kozik, Malgorzata
TI Dysregulation of the mTOR signaling pathway in the pathogenesis of
autism spectrum disorders
SO POSTEPY HIGIENY I MEDYCYNY DOSWIADCZALNEJ
LA Polish
DT Review
DE autism spectrum disorders; mTOR signaling pathway; rapamycin
ID TUBEROUS SCLEROSIS COMPLEX; FRAGILE-X-SYNDROME; ACTIVATED
PROTEIN-KINASE; NEUROFIBROMATOSIS TYPE-1; COGNITIVE DEFICITS;
LEARNING-DEFICITS; BINDING PARTNER; COWDEN-SYNDROME; NERVOUS-SYSTEM;
RAPAMYCIN TOR
AB Mammalian target of rapamycin (mTor) plays multiple role in central nervous system and is involved in regulation of cell viability, differentiation, transcription, translation, protein degradation, actin cytoskeletal organization and autophagy. Recent experimental and clinical studies reveal that disturbances of mTOR signaling are involved in the pathogenesis of autism spectrum disorders (ASD). This article reviews current data on the alteration in the mTOR transduction cascade, which may contribute to common neurobehavioral disorders typical for ASD. Moreover, the results of the latest experimental studies on the potential of mTOR inhibitors for the treatment of ASD are reviewed.
C1 [Gabryel, Bozena; Kapalka, Agata; Sobczyk, Wojciech] Slaski Uniwersytet Med, Zaklad Farmakol Katedry Farmakol, Wydzial Lekarski Katowicach, PL-40752 Katowice, Poland.
[Labuzek, Krzysztof] Slaski Uniwersytet Med, Klin Chorob Wewnetrznych & Farmakol, Wydzial Lekarski Katowicach, Klin Katedry Farmakol, PL-40752 Katowice, Poland.
[Gaweda, Agnieszka; Janas-Kozik, Malgorzata] Slaski Uniwersytet Med, Oddzial Klin Psychiat & Psychoterapii Wieku Rozwo, PL-40752 Katowice, Poland.
[Janas-Kozik, Malgorzata] Slaski Uniwersytet Med, Katedra Psychiat & Psychoterapii, PL-40752 Katowice, Poland.
RP Gabryel, B (reprint author), Slaski Uniwersytet Med, Zaklad Farmakol Katedry Farmakol, Ul Medykow 18, PL-40752 Katowice, Poland.
EM bgabryel@interia.pl
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NR 78
TC 0
Z9 0
PU POLISH ACAD SCIENCES, INST IMMUNOL & EXP THERAPY
PI WROCLAW
PA RUDOLF WEIGL 12, WROCLAW, 53-114, POLAND
SN 0032-5449
EI 1732-2693
J9 POSTEP HIG MED DOSW
JI Postep. Hig. Med. Dosw.
PD APR 10
PY 2014
VL 68
BP 375
EP 383
PG 9
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AK7VQ
UT WOS:000338636200001
PM 24864089
ER
PT J
AU Zampieri, BL
Fernandez, F
Pearson, JN
Stasko, MR
Costa, ACS
AF Zampieri, Bruna L.
Fernandez, Fabian
Pearson, Jennifer N.
Stasko, Melissa R.
Costa, Alberto C. S.
TI Ultrasonic vocalizations during male-female interaction in the mouse
model of Down syndrome Ts65Dn
SO PHYSIOLOGY & BEHAVIOR
LA English
DT Article
DE Down syndrome; Ultrasonic vocalizations; Ts65Dn; Speech impairment;
Mouse models; Intellectual disability; USV; Spectral analysis; Voice;
Sonograms
ID FRAGILE-X-SYNDROME; SYNDROME CHILDREN; COMMUNICATION CALLS; LANGUAGE
IMPAIRMENT; MICE; INDIVIDUALS; DISORDER; RODENTS; SPEECH; AUTISM
AB Down syndrome (DS) is the leading cause of genetically defined intellectual disability. Although speech and language impairments are salient features of this disorder, the nature of these phenotypes and the degree to which they are exacerbated by concomitant oromotor dysfunction and/or hearing deficit are poorly understood. Mouse models like Ts65Dn, the most extensively used DS animal model, have been critical to understanding the genetic and developmental mechanisms that contribute to intellectual disability. In the present study, we characterized the properties of the ultrasonic vocalizations (USVs) emitted by Ts65Dn males during courtship episodes with female partners. USVs emitted by mice in this setting have been proposed to have some basic correlation to human speech. Data were collected and analyzed from 22 Ts65Dn mice and 22 of their euploid littermates. We found that both the minimum and maximum peak frequencies of Ts65Dn calls were lower than those produced by euploid mice, whereas the mean individual duration of "down" and "complex" syllable types was significantly longer. Peak, minimal and maximal, and the fundamental frequencies of short syllables generated by Ts65Dn mice were lower compared to those by euploid mice. Finally, Ts65Dn males made fewer multiple jumps calls during courtship and the mean total duration of their "arc", "u", and "complex" syllables was longer. We discuss the human correlates to these findings, their translational potential, and the limitations of this approach. To our knowledge, this is the first characterization of differences between adult Ts65Dn and euploid control mice with respect to USVs. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Zampieri, Bruna L.] Fac Med Sao Jose Rio Preto, Unidade Pesquisa Biol Mol & Genet, Sao Paulo, Brazil.
[Zampieri, Bruna L.; Stasko, Melissa R.; Costa, Alberto C. S.] Case Western Reserve Univ, Dept Pediat, Div Pediat Neurol, Cleveland, OH 44106 USA.
[Fernandez, Fabian] Johns Hopkins Univ, Sch Med, Dept Physiol, Baltimore, MD 21205 USA.
[Pearson, Jennifer N.] Univ Colorado, Neurosci Program, Aurora, CO USA.
RP Costa, ACS (reprint author), Case Western Reserve Univ, Dept Pediat, Div Pediat Neurol, 11100 Euclid Ave,Mail Stop RBC 6090, Cleveland, OH 44106 USA.
EM alberto.costa@case.edu
FU Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior, Brazil
[CAPES 0191-12-4]
FX The present study was supported in part by the Fondation Jerome Lejeune
(FF, ACSC), Instituto Alana (ACSC), and the Awakening Angles Foundation
(ACSC). B. L Zampieri was the recipient of a fellowship from Coordenacao
de Aperfeicoamento de Pessoal de Nivel Superior (CAPES 0191-12-4),
Brazil. We thank Dr. Daniel Tollin at the University of Colorado for
generously providing the ultrasound sensitive microphone used in the
experiments described here. The authors have no conflicts of interest to
declare.
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NR 74
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0031-9384
J9 PHYSIOL BEHAV
JI Physiol. Behav.
PD APR 10
PY 2014
VL 128
BP 119
EP 125
DI 10.1016/j.physbeh.2014.02.020
PG 7
WC Psychology, Biological; Behavioral Sciences
SC Psychology; Behavioral Sciences
GA AG0LE
UT WOS:000335106200018
PM 24534182
ER
PT J
AU Madden, AMK
Zup, SL
AF Madden, Amanda M. K.
Zup, Susan L.
TI Effects of developmental hyperserotonemia on juvenile play behavior,
oxytocin and serotonin receptor expression in the hypothalamus are age
and sex dependent
SO PHYSIOLOGY & BEHAVIOR
LA English
DT Article
DE Serotonin receptor; Oxytocin; Juvenile play behavior; Sex difference;
Autism; Hypothalamus
ID MESSENGER-RNA EXPRESSION; FINCH SONG SYSTEM; SOCIAL PLAY;
PARAVENTRICULAR NUCLEUS; RAT-BRAIN; 17-BETA-ESTRADIOL TREATMENT;
HORSERADISH-PEROXIDASE; SPECTRUM DISORDERS; GONADAL-STEROIDS; PIONEER
NEURONS
AB There is a striking sex difference in the diagnosis of Autism Spectrum Disorder (ASD), such that males are diagnosed more often than females, usually in early childhood. Given that recent research has implicated elevated blood serotonin (hyperserotonemia) in perinatal development as a potential factor in the pathogenesis of ASD, we sought to evaluate the effects of developmental hyperserotonemia on social behavior and relevant brain morphology in juvenile males and females. Administration of 5-methoxytryptamine (5-MT) both pre- and postnatally was found to disrupt normal social play behavior in juveniles. In addition, alterations in the number of oxytocinergic cells in the lateral and medial paraventricular nucleus (PVN) were evident on postnatal day 18 (PND18) in 5-MT treated females, but not treated males. 5-MT treatment also changed the relative expression of 5-HT1A and 5-HT2A receptors in the PVN, in males at PND10 and in females at PND18. These data suggest that serotonin plays an organizing role in the development of the PVN in a sexually dimorphic fashion, and that elevated serotonin levels during perinatal development may disrupt normal organization, leading to neurochemical and behavioral changes. Importantly, these data also suggest that the inclusion of both juvenile males and females in studies will be necessary to fully understand the role of serotonin in development, especially in relation to ASD. (C) 2014 Elsevier Inc. All rights reserved.
C1 Univ Massachusetts, Grad Program Dev & Brain Sci, Boston, MA 02125 USA.
[Zup, Susan L.] Univ Massachusetts, Dept Psychol, Boston, MA 02125 USA.
RP Zup, SL (reprint author), Univ Massachusetts, Dept Psychol, 100 Morrissey Blvd, Boston, MA 02125 USA.
EM susan.zup@umb.edu
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NR 88
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0031-9384
J9 PHYSIOL BEHAV
JI Physiol. Behav.
PD APR 10
PY 2014
VL 128
BP 260
EP 269
DI 10.1016/j.physbeh.2014.01.036
PG 10
WC Psychology, Biological; Behavioral Sciences
SC Psychology; Behavioral Sciences
GA AG0LE
UT WOS:000335106200037
PM 24530263
ER
PT J
AU Correia, CT
Conceicao, IC
Oliveira, B
Coelho, J
Sousa, I
Sequeira, AF
Almeida, J
Cafe, C
Duque, F
Mouga, S
Roberts, W
Gao, K
Lowe, JK
Thiruvahindrapuram, B
Walker, S
Marshall, CR
Pinto, D
Nurnberger, JI
Scherer, SW
Geschwind, DH
Oliveira, G
Vicente, AM
AF Correia, Catarina T.
Conceicao, Ines C.
Oliveira, Barbara
Coelho, Joana
Sousa, Ines
Sequeira, Ana F.
Almeida, Joana
Cafe, Catia
Duque, Frederico
Mouga, Susana
Roberts, Wendy
Gao, Kun
Lowe, Jennifer K.
Thiruvahindrapuram, Bhooma
Walker, Susan
Marshall, Christian R.
Pinto, Dalila
Nurnberger, John I.
Scherer, Stephen W.
Geschwind, Daniel H.
Oliveira, Guiomar
Vicente, Astrid M.
TI Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum
disorders
SO MOLECULAR AUTISM
LA English
DT Article
DE ANXA1; Autism; Brain homeostasis; Copy number variants; Duplication;
Glucocorticoids
ID COPY NUMBER VARIATION; DE-NOVO MUTATIONS; HIDDEN-MARKOV MODEL; SNP
GENOTYPING DATA; HUMAN GENOME; VARIANTS; CHILDREN; CORTISOL;
GLUCOCORTICOIDS; ASSOCIATION
AB Background: Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study.
Methods: From the AGP CNV genomic screen in 2,147 ASD individuals, we selected for characterization an ANXA1 gene duplication that was absent in 4,964 population-based controls. We further screened the duplication in a follow-up sample including 1,496 patients and 410 controls, and evaluated clinical correlations and family segregation. Sequencing of exonic/ downstream ANXA1 regions was performed in 490 ASD patients for identification of additional variants.
Results: The ANXA1 duplication, overlapping the last four exons and 3' UTR region, had an overall prevalence of 11/ 3,643 (0.30%) in unrelated ASD patients but was not identified in 5,374 controls. Duplication carriers presented no distinctive clinical phenotype. Family analysis showed neuropsychiatric deficits and ASD traits in multiple relatives carrying the duplication, suggestive of a complex genetic inheritance. Sequencing of exonic regions and the 3 ' UTR identified 11 novel changes, but no obvious variants with clinical significance.
Conclusions: We provide multilevel evidence for a role of ANXA1 in ASD etiology. Given its important role as mediator of glucocorticoid function in a wide variety of brain processes, including neuroprotection, apoptosis, and control of the neuroendocrine system, the results add ANXA1 to the growing list of rare candidate genetic etiological factors for ASD.
C1 [Correia, Catarina T.; Conceicao, Ines C.; Oliveira, Barbara; Coelho, Joana; Sousa, Ines; Sequeira, Ana F.; Vicente, Astrid M.] Inst Nacl Saude Doutor Ricardo Jorge, P-1649016 Lisbon, Portugal.
[Correia, Catarina T.; Conceicao, Ines C.; Oliveira, Barbara; Coelho, Joana; Sousa, Ines; Sequeira, Ana F.; Vicente, Astrid M.] Univ Lisbon, Fac Sci, Ctr Biodivers Funct & Integrat Genom, P-1749016 Lisbon, Portugal.
[Correia, Catarina T.; Conceicao, Ines C.; Oliveira, Barbara; Coelho, Joana; Sousa, Ines; Sequeira, Ana F.; Vicente, Astrid M.] Inst Gulbenkian Ciencias, P-2780156 Oeiras, Portugal.
[Almeida, Joana; Cafe, Catia; Duque, Frederico; Mouga, Susana; Oliveira, Guiomar] Ctr Hosp Coimbra, Hosp Pediat, Ctr Desenvolvimento Crianca, Unidade Neurodesenvolvimento & Autismo, P-3000602 Coimbra, Portugal.
[Almeida, Joana; Cafe, Catia; Duque, Frederico; Mouga, Susana; Oliveira, Guiomar] Ctr Hosp Coimbra, Hosp Pediat, Ctr Invest & Formacao Clin, P-3000602 Coimbra, Portugal.
[Almeida, Joana; Cafe, Catia; Duque, Frederico; Mouga, Susana; Oliveira, Guiomar] Univ Coimbra, P-3000602 Coimbra, Portugal.
[Mouga, Susana; Oliveira, Guiomar] Univ Coimbra, Fac Med, Inst Biomed Imaging & Life Sci, P-3000548 Coimbra, Portugal.
[Roberts, Wendy] Univ Toronto, Hosp Sick Children, Autism Res Unit, Toronto, ON M5G 1X8, Canada.
[Roberts, Wendy] Univ Toronto, Bloorview Kids Rehab, Toronto, ON M5G 1X8, Canada.
[Gao, Kun; Lowe, Jennifer K.; Geschwind, Daniel H.] Univ Calif Los Angeles, David Geffen Sch Med, Ctr Autism Res & Treatment, Program Neurogenet,Dept Neurol,Semel Inst, Los Angeles, CA 90095 USA.
[Thiruvahindrapuram, Bhooma; Walker, Susan; Marshall, Christian R.; Scherer, Stephen W.] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 0A4, Canada.
[Thiruvahindrapuram, Bhooma; Walker, Susan; Marshall, Christian R.; Scherer, Stephen W.] Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 0A4, Canada.
[Pinto, Dalila] Mt Sinai Sch Med, Seaver Autism Ctr, Dept Psychiat, New York, NY 10029 USA.
[Pinto, Dalila] Mt Sinai Sch Med, Seaver Autism Ctr, Dept Genet, New York, NY 10029 USA.
[Pinto, Dalila] Mt Sinai Sch Med, Seaver Autism Ctr, Dept Genom Sci, New York, NY 10029 USA.
[Pinto, Dalila] Mt Sinai Sch Med, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA.
[Nurnberger, John I.] Indiana Univ Sch Med, Dept Psychiat, Inst Psychiat Res, Indianapolis, IN 46202 USA.
[Nurnberger, John I.] Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA.
[Scherer, Stephen W.] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A1, Canada.
[Scherer, Stephen W.] Univ Toronto, McLaughlin Ctr, Toronto, ON M5S 1A1, Canada.
RP Vicente, AM (reprint author), Inst Nacl Saude Doutor Ricardo Jorge, P-1649016 Lisbon, Portugal.
EM astrid.vicente@insa.min-saude.pt
RI Scherer, Stephen /B-3785-2013; Duque, Frederico/H-3692-2014
OI Scherer, Stephen /0000-0002-8326-1999; Duque,
Frederico/0000-0001-5684-1472
FU Autism Speaks (USA); Health Research Board (HRB, Ireland [AUT/2006/1,
AUT/2006/2, PD/2006/48]; Medical Research Council (MRC,UK); Genome
Canada/Ontario Genomics Institute and the Hilibrand Foundation (USA); US
National Institutes of Health (NIH) [HD055751, HD055782, HD055784,
MH52708, MH55284, MH061009, MH06359, MH080647, MH081754, MH66766,
NS026630, NS042165, NS049261]; NS049261), the Canadian Institutes for
Health Research (CIHR), Assistance Publique - Hopitaux de Paris (France)
FX We gratefully acknowledge the children with ASD and their families for
their collaboration. We thank the AGP investigators for sharing data,
resources, and scientific discussions. The AGP study was funded by
Autism Speaks (USA), the Health Research Board (HRB, Ireland;
AUT/2006/1,AUT/2006/2, PD/2006/48), The Medical Research Council
(MRC,UK), Genome Canada/ Ontario Genomics Institute and the Hilibrand
Foundation ( USA). Additional support for individual groups was provided
by the US National Institutes of Health (NIH Grants: HD055751, HD055782,
HD055784, MH52708, MH55284, MH061009, MH06359, MH066673, MH080647,
MH081754, MH66766, NS026630, NS042165, NS049261), the Canadian
Institutes for Health Research (CIHR), Assistance Publique - Hopitaux de
Paris ( France), Autism Speaks UK, Canada Foundation for
Innovation/Ontario Innovation Trust, Deutsche Forschungsgemeinschaft (
Grant: Po 255/17-4) ( Germany), EC Sixth FP AUTISM MOLGEN, Fundacao
Calouste Gulbenkian ( Portugal), Fondation de France, Fondation
FondaMental ( France), Fondation Orange ( France), Fondation pour la
Recherche Medicale ( France), Fundacao para a Clencia e Tecnologia (
Portugal), the Hospital for Sick Children Foundation and University of
Toronto ( Canada), INSERM ( France), Institut Pasteur ( France), the
Italian Ministry of Health ( convention 181 of 19 October 2001), the
John P Hussman Foundation ( USA), McLaughlin Centre ( Canada), Ontario
Ministry of Research and Innovation ( Canada), the Seaver Foundation (
USA), the Swedish Science Council, the Centre for Applied Genomics (
Canada), the Utah Autism Foundation ( USA), and the Wellcome Trust core
award 075491/Z/04 ( UK). We gratefully acknowledge the resources
provided by the Autism Genetic Resource Exchange ( AGRE) Consortium and
the participating AGRE families. The Autism Genetic Resource Exchange is
a program of Autism Speaks and is supported, in part, by grant
1U24MH081810 from the National Institute of Mental Health to Clara M.
Lajonchere ( PI). Catarina Correia and Ines C. Conceicao are supported
by grants SFRH/BPD/64281/2009 and SFRH/BPD/74739/2010, respectively,
from Fundacao para a Clencia e Tecnologia. Ethical approval was obtained
from: i) the Ethics Committee at Hospital Pediatrico de Coimbra (
Portugal) for the Portuguese cases not included in AGP; ii) the Ethics
Committee at the Instituto Nacional de Sa de Doutor Ricardo Jorge (
Portugal) for the Portuguese controls; and iii) the Institutional Review
Board at UCLA for the AGRE sample. The control data from OHI, approved
by the Research Ethics Board of the University of Ottawa Heart
Institute; PopGen, approved by the Ethics Committee of the Medical
Faculty of Kiel and by the data protection officer of the University
Hospital Schleswig-Holstein; CHOP, approved by the Children's Hospital
of Philadelphia Institutional Review Board; and SAGE, approved by the
Institutional Review Board at each contributing institution (COGA, FSCD,
and COGEND) are published and available. The AGP data involves several
research centres and has already been published; the data is available.
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NR 81
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD APR 10
PY 2014
VL 5
AR 28
DI 10.1186/2040-2392-5-28
PG 14
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4YG
UT WOS:000334720000001
PM 24720851
ER
PT J
AU Belengeanu, V
Gamage, TH
Farcas, S
Stoian, M
Andreescu, N
Belengeanu, A
Frengen, E
Misceo, D
AF Belengeanu, V.
Gamage, T. H.
Farcas, S.
Stoian, M.
Andreescu, N.
Belengeanu, A.
Frengen, E.
Misceo, D.
TI A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old
developmentally delayed girl
SO GENE
LA English
DT Article
DE 2q24.2q243 deletion; Developmental delay; PSMD14; TBR1; SLC4A10; DPP4;
KCNH7; FIGN
ID EXPRESSION; TBR1; MICRODELETION; DISRUPTION; EPILEPSY; SLC4A10; BRAIN;
FETUS
AB We report a 20-month-old girl ascertained at the age of 11 months for developmental delay. She presented with hypotonia and delayed motor development. The patient had severe language impairment and showed behaviour consistent with autism spectrum disorder. She was microcephalic with mild dysmorphic features and had joint hyperlaxity. We detected a 2.3 Mb de novo deletion in 2q242q243 on her paternal chromosome. We compare the clinical features of our patient to six previously published patients with a deletion in 2q24.2q24.3, and one patient reported in the ECARUCA database. Although the clinical presentation of these patients is not highly consistent, likely due to the different deletion size and gene content, the following features seem to be recurrent: disturbance in the central nervous system, poor growth, hypotonia, and joint hyperlaxity. The region deleted in our patient contains 13 genes including PSMD14, TBR1, SLC4A10, DPP4, KCNH7, and FIGN. We briefly review the knowledge of these genes and their possible involvement in the aetiology of this developmental delay syndrome. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Belengeanu, V.; Farcas, S.; Stoian, M.; Andreescu, N.] Univ Med & Pharm, Discipline Med Genet, Timisoara, Romania.
[Gamage, T. H.; Frengen, E.; Misceo, D.] Univ Oslo, Dept Med Genet, N-0316 Oslo, Norway.
[Gamage, T. H.; Frengen, E.; Misceo, D.] Oslo Univ Hosp, Dept Med Genet, N-0407 Oslo, Norway.
[Belengeanu, A.] Univ Med & Pharm, Discipline Cellular & Mol Biol, Timisoara, Romania.
RP Misceo, D (reprint author), Oslo Univ Hosp, Dept Med Genet, Kirkeveien 166, N-0407 Oslo, Norway.
EM belvtim@yahoo.com; t.y.gamage@studmed.uio.no; sfarcas2004@yahoo.com;
monistoian_dr@yahoo.com; nicollandreescu@yahoo.com; alinabele@yahoo.com;
eirik.frengen@medisin.uio.no; doriana.misceo@medisin.uio.no
FU Ulleval University Hospital Research Fund (VIRUUS); Anders Jahres fond
til vitenskapens fremme
FX We are grateful to the family for participating in this study. This work
was supported by a grant from the Ulleval University Hospital Research
Fund (VIRUUS). DM was supported by "Anders Jahres fond til vitenskapens
fremme".
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NR 25
TC 2
Z9 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
EI 1879-0038
J9 GENE
JI Gene
PD APR 10
PY 2014
VL 539
IS 1
BP 168
EP 172
DI 10.1016/j.gene.2014.01.060
PG 5
WC Genetics & Heredity
SC Genetics & Heredity
GA AD8DK
UT WOS:000333496500025
PM 24508274
ER
PT J
AU Pohl, A
Cassidy, S
Auyeung, B
Baron-Cohen, S
AF Pohl, Alexa
Cassidy, Sarah
Auyeung, Bonnie
Baron-Cohen, Simon
TI Uncovering steroidopathy in women with autism: a latent class analysis
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism; Sex steroids; Polycystic ovary syndrome; Testosterone; Hormones
ID POLYCYSTIC-OVARY-SYNDROME; PREMENSTRUAL DYSPHORIC DISORDER; CONGENITAL
ADRENAL-HYPERPLASIA; CAG REPEAT POLYMORPHISM; ANDROGEN RECEPTOR GENE;
SPECTRUM QUOTIENT AQ; ANOREXIA-NERVOSA; CATAMENIAL EPILEPSY; FETAL
TESTOSTERONE; ASPERGER-SYNDROME
AB Background: Prenatal exposure to increased androgens has been implicated in both polycystic ovary syndrome (PCOS) and autism spectrum conditions (ASC), suggesting that PCOS may be increased among women with ASC. One study suggested elevated steroidopathic symptoms ('steroidopathy') in women with ASC. As the symptoms are not independent, we conducted a latent class analysis (LCA). The objectives of the current study are: (1) to test if these findings replicate in a larger sample; and (2) to use LCA to uncover affected clusters of women with ASC.
Methods: We tested two groups of women, screened using the Autism Spectrum Quotient -Group 1: n = 415 women with ASC (mean age 36.39 +/- 11.98 years); and Group 2: n = 415 controls (mean age 39.96 +/- 11.92 years). All participants completed the Testosterone-related Medical Questionnaire online. A multiple-group LCA was used to identify differences in latent class structure between women with ASC and controls.
Results: There were significant differences in frequency of steroid-related conditions and symptoms between women with ASC and controls. A two-class semi-constrained model best fit the data. Based on response patterns, we identified the classes as 'Typical' and 'Steroidopathic'. The prevalence of the 'Steroidopathic' class was significantly increased within the ASC group (Delta G(2) = 15, df = 1, P = 0.0001). In particular, we confirmed higher frequencies of epilepsy, amenorrhea, dysmenorrhea, severe acne, gender dysphoria, and transsexualism, and differences in sexual preference in women with ASC.
Conclusions: Women with ASC are at increased risk for symptoms and conditions linked to steroids. LCA revealed this steroidopathy despite the apparent underdiagnosis of PCOS.
C1 [Pohl, Alexa; Cassidy, Sarah; Auyeung, Bonnie; Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 8AH, England.
[Cassidy, Sarah] Coventry Univ, Dept Psychol & Behav Sci, Coventry CV1 5LW, W Midlands, England.
[Auyeung, Bonnie] Univ Edinburgh, Dept Psychol, Edinburgh EH8 9AD, Midlothian, Scotland.
[Baron-Cohen, Simon] Fulborn Hosp, Chitra Sethia Autism Ctr, Cambridgeshire & Peterborough Mental Hlth Fdn NHS, CLASS Clin, Cambridge CB21 5EF, England.
RP Pohl, A (reprint author), Univ Cambridge, Dept Psychiat, Autism Res Ctr, Douglas House,18B Trumpington Rd, Cambridge CB2 8AH, England.
EM ap728@medschl.cam.ac.uk
FU PhD studentship from Trinity College, Cambridge; MRC; Autism Research
Trust; Wellcome Trust
FX We are grateful to Mike Lombardo, Liliana Ruta, Bhismadev Chakrabarti,
Meng-Chuan Lai, Melissa Hines, Michelle St Clair, Rachel Grove, and
Ieuan Hughes for helpful discussions. AP was supported by a PhD
studentship from Trinity College, Cambridge, and SB-C was supported by
the MRC, the Autism Research Trust, and the Wellcome Trust during the
period of this work. This project was conducted in association with the
NIHR CLAHRC for Cambridgeshire and Peterborough NHS Foundation Trust.
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NR 88
TC 6
Z9 6
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD APR 9
PY 2014
VL 5
AR 27
DI 10.1186/2040-2392-5-27
PG 12
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AG4UH
UT WOS:000335415300001
PM 24717046
ER
PT J
AU Corradi-Dell'Acqua, C
Schwartz, S
Meaux, E
Hubert, B
Vuilleumier, P
Deruelle, C
AF Corradi-Dell'Acqua, Corrado
Schwartz, Sophie
Meaux, Emilie
Hubert, Benedicte
Vuilleumier, Patrik
Deruelle, Christine
TI Neural responses to emotional expression information in high- and
low-spatial frequency in autism: evidence for a cortical dysfunction
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE autism; facial expression; emotion expression; spatial frequency; fMRI
ID PERVASIVE DEVELOPMENTAL DISORDER; FUSIFORM FACE AREA; HUMAN EXTRASTRIATE
CORTEX; WEAK CENTRAL COHERENCE; SPECTRUM DISORDERS; ASPERGER-SYNDROME;
HUMAN AMYGDALA; VISUAL-PERCEPTION; FACIAL EXPRESSIONS; FEARFUL FACES
AB Despite an overall consensus that Autism Spectrum Disorder (ASD) entails atypical processing of human faces and emotional expressions, the role of neural structures involved in early facial processing remains unresolved. An influential model for the neurotypical brain suggests that face processing in the fusiform gyrus and the amygdala is based on both high-spatial frequency (HSF) information carried by a parvocellular pathway, and low-spatial frequency (LSF) information separately conveyed by a magnocellular pathway. Here, we tested the fusiform gyrus and amygdala sensitivity to emotional face information conveyed by these distinct pathways in ASD individuals (and matched Controls). During functional Magnetical Resonance Imaging (fMRI), participants reported the apparent gender of hybrid face stimuli, made by merging two different faces (one in LSF and the other in HSF), out of which one displayed an emotional expression (fearful or happy) and the other was neutral. Controls exhibited increased fusiform activity to hybrid faces with an emotional expression (relative to hybrids composed only with neutral faces), regardless of whether this was conveyed by LSFs or HSFs in hybrid stimuli. ASD individuals showed intact fusiform response to LSF, but not HSF, expressions. Furthermore, the amygdala (and the ventral occipital cortex) was more sensitive to HSF than LSF expressions in Controls, but exhibited an opposite preference in ASD. Our data suggest spared LSF face processing in ASD, while cortical analysis of HSF expression cues appears affected. These findings converge with recent accounts suggesting that ASD might be characterized by a difficulty in integrating multiple local information and cause global processing troubles unexplained by losses in low spatial frequency inputs.
C1 [Corradi-Dell'Acqua, Corrado; Vuilleumier, Patrik] Univ Geneva, Swiss Ctr Affect Sci, CH-1211 Geneva, Switzerland.
[Corradi-Dell'Acqua, Corrado; Schwartz, Sophie; Meaux, Emilie; Vuilleumier, Patrik] Univ Med Ctr, Dept Neurosci, Lab Neurol & Imaging Cognit, Geneva, Switzerland.
[Corradi-Dell'Acqua, Corrado; Schwartz, Sophie; Meaux, Emilie; Vuilleumier, Patrik] Univ Med Ctr, Neurol Clin, Geneva, Switzerland.
[Hubert, Benedicte] Univ Montreal, Hop Riviere de Praires, Montreal, PQ, Canada.
[Hubert, Benedicte; Deruelle, Christine] Aix Marseille Univ, CNRS, Inst Inst Neurosci Timone, Marseille, France.
RP Corradi-Dell'Acqua, C (reprint author), Univ Geneva CISA, Swiss Ctr Affect Sci, NCCR Affect Sci, Campus Biotech,24 Rue Gen Dufour, CH-1211 Geneva, Switzerland.
EM corrado.corradi@unige.ch
RI deruelle, christine/E-2130-2015
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NR 112
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD APR 9
PY 2014
VL 8
AR 189
DI 10.3389/fnhum.2014.00189
PG 18
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AE5TA
UT WOS:000334051000001
PM 24782735
ER
PT J
AU Itahashi, T
Yamada, T
Watanabe, H
Nakamura, M
Jimbo, D
Shioda, S
Toriizuka, K
Kato, N
Hashimoto, R
AF Itahashi, Takashi
Yamada, Takashi
Watanabe, Hiromi
Nakamura, Motoaki
Jimbo, Daiki
Shioda, Seiji
Toriizuka, Kazuo
Kato, Nobumasa
Hashimoto, Ryuichiro
TI Altered Network Topologies and Hub Organization in Adults with Autism: A
Resting-State fMRI Study
SO PLOS ONE
LA English
DT Article
ID BRAIN FUNCTIONAL NETWORKS; ANTERIOR CINGULATE CORTEX; MAJOR DEPRESSIVE
DISORDER; SUPERIOR TEMPORAL SULCUS; VOXEL-BASED MORPHOMETRY; MIRROR
NEURON SYSTEM; SPECTRUM QUOTIENT AQ; SMALL-WORLD NETWORKS; GRAY-MATTER
VOLUME; INHIBITORY CONTROL
AB Recent functional magnetic resonance imaging (fMRI) studies on autism spectrum condition (ASC) have identified dysfunctions in specific brain networks involved in social and non-social cognition that persist into adulthood. Although increasing numbers of fMRI studies have revealed atypical functional connectivity in the adult ASC brain, such functional alterations at the network level have not yet been fully characterized within the recently developed graph-theoretical framework. Here, we applied a graph-theoretical analysis to resting-state fMRI data acquired from 46 adults with ASC and 46 age- and gender-matched controls, to investigate the topological properties and organization of autistic brain network. Analyses of global metrics revealed that, relative to the controls, participants with ASC exhibited significant decreases in clustering coefficient and characteristic path length, indicating a shift towards randomized organization. Furthermore, analyses of local metrics revealed a significantly altered organization of the hub nodes in ASC, as shown by analyses of hub disruption indices using multiple local metrics and by a loss of '' hubness '' in several nodes (e. g., the bilateral superior temporal sulcus, right dorsolateral prefrontal cortex, and precuneus) that are critical for social and non-social cognitive functions. In particular, local metrics of the anterior cingulate cortex consistently showed significant negative correlations with the Autism-Spectrum Quotient score. Our results demonstrate altered patterns of global and local topological properties that may underlie impaired social and non-social cognition in ASC.
C1 [Itahashi, Takashi; Toriizuka, Kazuo] Showa Univ, Sch Med, Dept Pharmacognosy & Phytochem, Tokyo 142, Japan.
[Yamada, Takashi; Watanabe, Hiromi; Nakamura, Motoaki; Kato, Nobumasa; Hashimoto, Ryuichiro] Showa Univ, Sch Med, Dept Psychiat, Tokyo 142, Japan.
[Nakamura, Motoaki] Kinko Hosp, Kanagawa Psychiat Ctr, Kanagawa, Japan.
[Jimbo, Daiki; Shioda, Seiji] Showa Univ, Sch Med, Dept Anat, Tokyo 142, Japan.
[Hashimoto, Ryuichiro] Tokyo Metropolitan Univ, Grad Sch Humanities, Dept Language Sci, Tokyo 158, Japan.
RP Hashimoto, R (reprint author), Showa Univ, Sch Med, Dept Psychiat, Tokyo 142, Japan.
EM dbridges50@gmail.com
FU Japan Society for the Promotion of Science (JSPS) [25870738]; Ministry
of Education, Culture, Sports, Science, and Technology of Japan
[23118003]
FX A part of this study is the result of "Development of BMI Technologies
for Clinical Application" carried out under the Strategic Research
Program for Brain Sciences by the Ministry of Education, Culture,
Sports, Science and Technology of Japan. This work was also supported by
the Japan Society for the Promotion of Science (JSPS) Grant-in-Aid for
Young Scientists (B) (25870738 to T. I.) and by a Grant-in-Aid for
Scientific Research on Innovative Areas (23118003; Adolescent Mind &
Self-Regulation to R. H.) from the Ministry of Education, Culture,
Sports, Science, and Technology of Japan. The funders had no role in
study design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 121
TC 1
Z9 2
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD APR 8
PY 2014
VL 9
IS 4
AR e94115
DI 10.1371/journal.pone.0094115
PG 15
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AE7FA
UT WOS:000334160900086
PM 24714805
ER
PT J
AU Evans, DW
Kleinpeter, FL
Slane, MM
Boomer, KB
AF Evans, David W.
Kleinpeter, F. Lee
Slane, Mylissa M.
Boomer, K. B.
TI Adaptive and Maladaptive Correlates of Repetitive Behavior and
Restricted Interests in Persons with Down Syndrome and
Developmentally-Matched Typical Children: A Two-Year Longitudinal
Sequential Design
SO PLOS ONE
LA English
DT Article
ID OBSESSIVE-COMPULSIVE DISORDER; AUTISM SPECTRUM DISORDERS;
PRADER-WILLI-SYNDROME; YOUNG-CHILDREN; MENTAL-RETARDATION; CHILDHOOD
RITUALS; STEREOTYPIES; PSYCHOPATHOLOGY; DISINHIBITION; ANNOTATION
AB We examined the course of repetitive behavior and restricted interests (RBRI) in children with and without Down syndrome (DS) over a two-year time period. Forty-two typically-developing children and 43 persons with DS represented two mental age (MA) levels: `` younger'' 2-4 years; `` older'' 5-11 years. For typically developing younger children some aspects of RBRI increased from Time 1 to Time 2. In older children, these aspects remained stable or decreased over the two-year period. For participants with DS, RBRI remained stable or increased over time. Time 1 RBRI predicted Time 2 adaptive behavior (measured by the Vineland Scales) in typically developing children, whereas for participants with DS, Time 1 RBRI predicted poor adaptive outcome (Child Behavior Checklist) at Time 2. The results add to the body of literature examining the adaptive and maladaptive nature of repetitive behavior.
C1 [Evans, David W.; Slane, Mylissa M.] Geisinger Bucknell Autism & Dev Med Inst, Dev Neuropsychol Lab, Lewisburg, PA 17837 USA.
[Evans, David W.] Bucknell Univ, Dept Neurosci, Lewisburg, PA 17837 USA.
[Kleinpeter, F. Lee] River Parishes Community Coll, Dept Psychol, Sorrento, LA USA.
[Boomer, K. B.] Bucknell Univ, Dept Math, Lewisburg, PA 17837 USA.
RP Evans, DW (reprint author), Geisinger Bucknell Autism & Dev Med Inst, Dev Neuropsychol Lab, Lewisburg, PA 17837 USA.
EM dwevans@bucknell.edu
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NR 60
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD APR 7
PY 2014
VL 9
IS 4
AR e93951
DI 10.1371/journal.pone.0093951
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AE7EP
UT WOS:000334159800075
PM 24710387
ER
PT J
AU Kodama, S
Yamada, T
Imai, J
Sawada, S
Takahashi, K
Tsukita, S
Kaneko, K
Uno, K
Ishigaki, Y
Oka, Y
Katagiri, H
AF Kodama, Shinjiro
Yamada, Tetsuya
Imai, Junta
Sawada, Shojiro
Takahashi, Kei
Tsukita, Sohei
Kaneko, Keizo
Uno, Kenji
Ishigaki, Yasushi
Oka, Yoshitomo
Katagiri, Hideki
TI Simultaneous Copy Number Losses within Multiple Subtelomeric Regions in
Early-Onset Type2 Diabetes Mellitus
SO PLOS ONE
LA English
DT Article
ID GENOME-WIDE ASSOCIATION; INCREASE RISK; ARRAY CGH; GENE; SUSCEPTIBILITY;
DISORDERS; VARIANTS; MUTATION; AUTISM; SCHIZOPHRENIA
AB Genetic factors play very important roles in the onset and progression of type 2 diabetes mellitus (T2DM). However, the genetic factors correlating with T2DM onset have not as yet been fully clarified. We previously found that copy number losses in the subtelomeric region on chromosome 4p16.3 were detected in early-onset Japanese T2DM patients (onset age,35 years) at a high frequency. Herein, we additionally found two novel copy number losses within the subtelomeric regions on chromosomes 16q24.2-3 and 22q13.31-33, which have significant associations with early-onset Japanese T2DM. The associations were statistically significant by Fisher's exact tests with P values of 5.19x10(-3) and 1.8x10(-3) and odds ratios of 5.7 and 4.4 for 16q24.2-3 and 22q13.31-33, respectively. Furthermore, copy number variation (CNV) analysis of the whole genome using the CNV BeadChip system verified simultaneous copy number losses in all three subtelomeric regions in 11 of our 100 T2DM subjects, while none of 100 non-diabetic controls showed the copy number losses in all three regions. Our results suggest that the mechanism underlying induction of CNVs is involved in the pathogenesis of early-onset T2DM. Thus, copy number losses within multiple subtelomeric regions are strongly associated with early-onset T2DM and examination of simultaneous CNVs in these three regions may lead to the development of an accurate and selective procedure for detecting genetic susceptibility to T2DM.
C1 [Kodama, Shinjiro; Yamada, Tetsuya; Imai, Junta; Sawada, Shojiro; Takahashi, Kei; Tsukita, Sohei; Kaneko, Keizo; Uno, Kenji; Ishigaki, Yasushi; Oka, Yoshitomo; Katagiri, Hideki] Tohoku Univ, Grad Sch Med, Div Metab & Diabet, Sendai, Miyagi 980, Japan.
[Katagiri, Hideki] Japan Sci & Technol Agcy, CREST, Tokyo, Japan.
RP Katagiri, H (reprint author), Tohoku Univ, Grad Sch Med, Div Metab & Diabet, Sendai, Miyagi 980, Japan.
EM katagiri@med.tohoku.ac.jp
FU Ministry of Health, Labor, and Welfare of Japan [H19-genome-005];
Global-COE Programs for "Network Medicine"
FX This study was supported by a Grant-in-Aid for Scientific Research to Y.
Oka (H19-genome-005) from the Ministry of Health, Labor, and Welfare of
Japan, and was also supported by a grant from the Global-COE Programs
for "Network Medicine" to Y. Oka and H. Katagiri from the Ministry of
Education, Culture, Sports, Science, and Technology of Japan. The
funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 41
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD APR 7
PY 2014
VL 9
IS 4
AR e88602
DI 10.1371/journal.pone.0088602
PG 8
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AE7EP
UT WOS:000334159800006
PM 24709989
ER
PT J
AU Boeckx, C
Benitez-Burraco, A
AF Boeckx, Cedric
Benitez-Burraco, Antonio
TI The shape of the human language-ready brain
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE language-ready brain; cognitive biology; evolution of language;
comparative neuroscience; human evolution; globularity; biolinguistics
ID UPSTREAM STIMULATORY FACTOR; ARTIFICIAL CRANIAL DEFORMATION; AUTISM
SPECTRUM DISORDER; SUBUNIT GENE-EXPRESSION; ELEMENT-BINDING PROTEIN;
TRANSCRIPTION FACTORS; ALZHEIMERS-DISEASE; REGULATORY ELEMENT; BASAL
GANGLIA; DLX GENES
AB Our core hypothesis is that the emergence of our species-specific language-ready brain ought to be understood in light of the developmental changes expressed at the levels of brain morphology and neural connectivity that occurred in our species after the split from Neanderthals-Denisovans and that gave us a more globular braincase configuration. In addition to changes at the cortical level, we hypothesize that the anatomical shift that led to globularity also entailed significant changes at the subcortical level. We claim that the functional consequences of such changes must also be taken into account to gain a fuller understanding of our linguistic capacity. Here we focus on the thalamus, which we argue is central to language and human cognition, as it modulates fronto-parietal activity. With this new neurobiological perspective in place, we examine its possible molecular basis. We construct a candidate gene set whose members are involved in the development and connectivity of the thalamus, in the evolution of the human head, and are known to give rise to language-associated cognitive disorders. We submit that the new gene candidate set opens up new windows into our understanding of the genetic basis of our linguistic capacity. Thus, our hypothesis aims at generating new testing grounds concerning core aspects of language ontogeny and phylogeny.
C1 [Boeckx, Cedric] Catalan Inst Adv Studies & Res ICREA, Barcelona, Spain.
[Boeckx, Cedric] Univ Barcelona, Dept Linguist, E-08007 Barcelona, Spain.
[Benitez-Burraco, Antonio] Univ Huelva, Dept Spanish Philol & Its Didact, Huelva, Spain.
RP Boeckx, C (reprint author), Univ Barcelona, Dept Linguist, Gran Via Corts Catalanes 585, E-08007 Barcelona, Spain.
EM cedric.boeckx@ub.edu
RI Benitez-Burraco, Antonio/N-3339-2014
OI Benitez-Burraco, Antonio/0000-0003-4574-5666
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NR 282
TC 7
Z9 8
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD APR 4
PY 2014
VL 5
DI 10.3389/fpsyg.2014.00282
PG 23
WC Psychology, Multidisciplinary
SC Psychology
GA AE1VC
UT WOS:000333757900001
PM 24772099
ER
PT J
AU Crewther, DP
Crewther, DP
AF Crewther, Daniel P.
Crewther, David P.
TI Peripheral global neglect in high vs. low autistic tendency
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE global percept; local percept; diamond illusion; magnocellular;
parvocellular; autism; autistic tendency; AQ
ID SPECTRUM DISORDERS; VISUAL-CORTEX; FUNCTIONING AUTISM; MOTION
PERCEPTION; BORDER OWNERSHIP; COHERENCE; SEARCH; TASK; INTERFERENCE;
MECHANISM
AB In addition to its core social deficits, autism is characterized by altered visual perception, with a preference for local percept in those high in autistic tendency. Here, the balance of global vs. local percepts for the perceptually rivalrous diamond illusion was assessed between groups scoring high and low on the Autism Spectrum Quotient (AQ). The global percept of a diamond shape oscillating horizontally behind three occluders can as easily be interpreted as the local percept of four line elements, each moving vertically. Increasing the luminance contrast of the occluders with respect to background resulted in an increase of initial global percept in both groups, with no difference in sensitivity between groups. Presenting the target further into the periphery resulted in a marked increase in the percentage of global perception with visual field eccentricity. However, while the performance for centrally presented diamond targets was not different between AQ groups, the peripheral global performance of the High AQ group was significantly reduced compared with the Low AQ group. On the basis of other imaging studies, this peripheral but not foveal global perceptual neglect may indicate an abnormal interaction between striate cortex and the Lateral Occipital Complex (LOC), or to differences in the deployment of attention between the two groups.
C1 [Crewther, Daniel P.; Crewther, David P.] Swinburne Univ Technol, Ctr Human Psychopharmacol, Melbourne, Vic 3122, Australia.
RP Crewther, DP (reprint author), Swinburne Univ Technol, Ctr Human Psychopharmacol, 1 Alfred St, Melbourne, Vic 3122, Australia.
EM dcrewther@swin.edu.au
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NR 42
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD APR 4
PY 2014
VL 5
DI 10.3389/fpsyg.2014.00284
PG 6
WC Psychology, Multidisciplinary
SC Psychology
GA AE1VF
UT WOS:000333758300001
ER
PT J
AU Tushir, JS
Akbarian, S
AF Tushir, J. S.
Akbarian, S.
TI CHROMATIN-BOUND RNA AND THE NEUROBIOLOGY OF PSYCHIATRIC DISEASE
SO NEUROSCIENCE
LA English
DT Review
DE polycomb repressor complex; antisense; brain-derived neurotrophic
factor; dipeptidyl-peptidase 10; non-coding RNA; histone methylation
ID AUTISM SPECTRUM DISORDER; LONG NONCODING RNAS; LINKED
MENTAL-RETARDATION; TRANSCRIPTIONAL UP-REGULATION; H3 LYSINE 27; HISTONE
METHYLATION; DNA METHYLATION; PREFRONTAL CORTEX; DEVELOPMENTAL
REGULATION; NEUROTROPHIC FACTOR
AB A large, and still rapidly expanding literature on epigenetic regulation in the nervous system has provided fundamental insights into the dynamic regulation of DNA methylation and post-translational histone modifications in the context of neuronal plasticity in health and disease. Remarkably, however, very little is known about the potential role of chromatin-bound RNAs, including many long non-coding transcripts and various types of small RNAs. Here, we provide an overview on RNA-mediated regulation of chromatin structure and function, with focus on histone lysine methylation and psychiatric disease. Examples of recently discovered chromatin-bound long non-coding RNAs important for neuronal health and function include the brain-derived neurotrophic factor antisense transcript (Bdnf-AS) which regulates expression of the corresponding sense transcript, and LOC389023 which is associated with human-specific histone methylation signatures at the chromosome 2q14.1 neurodevelopmental risk locus by regulating expression of DPP10, an auxillary subunit for voltage-gated K(+) channels. We predict that the exploration of chromatin-bound RNA will significantly advance our current knowledge base in neuroepigenetics and biological psychiatry.
This article is part of a Special Issue entitled: Epigenetics in Brain Function. (C) 2013 IBRO. Published by Elsevier Ltd. All rights reserved.
C1 [Tushir, J. S.; Akbarian, S.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, Dept Psychiat, New York, NY 10029 USA.
RP Akbarian, S (reprint author), Hess Ctr Sci & Med, Friedman Brain Inst, Room 9-105,1470 Madison Ave, New York, NY 10029 USA.
EM Schahram.akbarian@mssm.edu
FU National Institutes of Health
FX Work in the authors' laboratory is supported by the research awards from
the National Institutes of Health. The authors report no conflict.
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NR 135
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0306-4522
EI 1873-7544
J9 NEUROSCIENCE
JI Neuroscience
PD APR 4
PY 2014
VL 264
BP 131
EP 141
DI 10.1016/j.neuroscience.2013.06.051
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AD2VK
UT WOS:000333093700012
PM 23831425
ER
PT J
AU Dillenburger, K
McKerr, L
Jordan, JA
AF Dillenburger, Karola
McKerr, Lyn
Jordan, Julie-Ann
TI Lost in Translation: Public Policies, Evidence-based Practice, and
Autism Spectrum Disorder
SO INTERNATIONAL JOURNAL OF DISABILITY DEVELOPMENT AND EDUCATION
LA English
DT Review
DE applied behaviour analysis; early intensive behavioural intervention;
disability policies; autism; autism spectrum disorder
ID INTENSIVE BEHAVIORAL INTERVENTION; YOUNG-CHILDREN; COMPREHENSIVE
TREATMENTS; ADULTS; METAANALYSIS; MANAGEMENT; EMPLOYMENT; DIAGNOSIS;
HISTORY; STATE
AB Prevalence rates of autism spectrum disorder have risen dramatically over the past few decades (now estimated at 1:50 children). The estimated total annual cost to the public purse in the United States is US$137 billion, with an individual lifetime cost in the United Kingdom estimated at between 0.8 pound million and 1.23 pound million depending on the level of functioning. The United Nations Convention for the Rights of Persons with Disabilities has enshrined full and equal human rights-for example, for inclusion, education and employment-and there is ample evidence that much can be achieved through adequate support and early intensive behavioural interventions. Not surprisingly, most governments worldwide have devised laws, policies, and strategies to improve services related to autism spectrum disorder, yet intriguingly the approaches differ considerably across the globe. Using Northern Ireland as a case in point, we look at relevant governmental documents and offer international comparisons that illustrate inconsistencies akin to a "postcode lottery" of services.
C1 [Dillenburger, Karola; McKerr, Lyn; Jordan, Julie-Ann] Queens Univ Belfast, Sch Educ, Ctr Behav Anal, Belfast, Antrim, North Ireland.
RP Dillenburger, K (reprint author), Queens Univ Belfast, Sch Educ, Ctr Behav Anal, Belfast, Antrim, North Ireland.
EM k.dillenburger@qub.ac.uk
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NR 108
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1034-912X
EI 1465-346X
J9 INT J DISABIL DEV ED
JI Int. J. Disabil. Dev. Educ.
PD APR 3
PY 2014
VL 61
IS 2
SI SI
BP 134
EP 151
DI 10.1080/1034912X.2014.905059
PG 18
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH0WL
UT WOS:000335841400004
ER
PT J
AU Ling, R
AF Ling, Rebecca
TI Co-opting the Smarts: Why Zak Kukoff's Autism Ambassadors Matters
SO INTERNATIONAL JOURNAL OF DISABILITY DEVELOPMENT AND EDUCATION
LA English
DT Article
C1 Univ Queensland, Sch Educ, Brisbane, Qld, Australia.
RP Ling, R (reprint author), Univ Queensland, Sch Educ, Brisbane, Qld, Australia.
EM r.ling@uq.edu.au
CR ACARA (Australian Curriculum Assessment and Reporting Authority), 2010, AUSTR CURR VERS 6 0
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NR 13
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1034-912X
EI 1465-346X
J9 INT J DISABIL DEV ED
JI Int. J. Disabil. Dev. Educ.
PD APR 3
PY 2014
VL 61
IS 2
SI SI
BP 178
EP 182
DI 10.1080/1034912X.2014.905065
PG 5
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AH0WL
UT WOS:000335841400007
ER
PT J
AU Yap, D
Lau, L
Nasir, N
Cameron, C
Matthews, J
Tang, HN
Moore, DW
AF Yap, Dorcas
Lau, Lily
Nasir, Nasriah
Cameron, Christine
Matthews, Jan
Tang, Hui Nee
Moore, Dennis W.
TI Evaluation of a parenting program for children with behavioural
problems: Signposts in Singapore
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Article
DE cross-cultural implementation; challenging behaviour; program
evaluation; Signposts parenting program; difficult behaviour; parent
support
ID INTELLECTUAL DISABILITY; SUPPORT PROGRAM; STRESS; MOTHERS; AUTISM;
IMPLEMENTATION; DEPRESSION; COGNITIONS; EFFICACY
AB Background The Signposts for Building Better Behaviour program, developed by the Parenting Research Centre, Victoria, Australia, was conducted at a public hospital facility in Singapore.
Method More than 1,000 parents completed the program, and filled in questionnaires about their child's behaviours.
Results Parents rated themselves in the questionnaires as being significantly less hassled, stressed, depressed, and anxious after attending the program. They were more confident and satisfied with managing their child, and rated their children's behaviours as having improved. Effect sizes ranged from 0.12 to 0.59. The findings were maintained 3 months after completion of the program.
Conclusions The study provides evidence of the cross-cultural applicability of the principles underlying the Signposts program. As there are long-term repercussions when children's behaviour problems are not dealt with appropriately, such behaviour management programs should be made more available to parents and caregivers.
C1 [Yap, Dorcas; Lau, Lily; Nasir, Nasriah; Tang, Hui Nee] KK Womens & Childrens Hosp, Dept Child Dev, Singapore 229899, Singapore.
[Cameron, Christine; Matthews, Jan] Parenting Res Ctr, Melbourne, Vic, Australia.
[Moore, Dennis W.] Monash Univ, Fac Educ, Melbourne, Vic 3004, Australia.
RP Yap, D (reprint author), KK Womens & Childrens Hosp, Dept Child Dev, 100 Bukit Timah Rd, Singapore 229899, Singapore.
EM Dorcas.Yap.FF@kkh.com.sg
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NR 28
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PD APR 3
PY 2014
VL 39
IS 2
SI SI
BP 214
EP 221
DI 10.3109/13668250.2014.899567
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AF7WP
UT WOS:000334926300012
ER
PT J
AU Al-Ayadhi, LY
Mostafa, GA
AF Al-Ayadhi, Laila Yousef
Mostafa, Gehan Ahmed
TI Serum antinucleosome-specific antibody as a marker of autoimmunity in
children with autism
SO JOURNAL OF NEUROINFLAMMATION
LA English
DT Article
DE Antinucleosome-specific antibodies; Autism; Autoimmunity; Family history
of autoimmunity
ID SYSTEMIC-LUPUS-ERYTHEMATOSUS; DISEASE-ACTIVITY; NUCLEOSOME ANTIBODIES;
SPECTRUM DISORDERS; NULL ALLELE; AUTOANTIBODIES; ASSOCIATION; FREQUENCY;
NEPHRITIS; RESPONSES
AB Background: Increasing evidence of autoimmune phenomena in some individuals with autism could represent the presence of altered or inappropriate immune responses in this disorder. The role of the nucleosome in the induction of antibody response in some autoimmune-mediated tissue damage may provide novel targets for treatment. Due to the paucity of studies investigating the frequency of systemic auto-antibodies in autism, we are the first to investigate the frequency of antinucleosome-specific antibodies in a group of autistic children.
Methods: Serum antinucleosome-specific antibodies were measured by ELISA in 60 autistic children, between the ages of 3 and 12 years, in comparison to 60 healthy children. Autistic severity was assessed using the Childhood Autism Rating Scale (CARS).
Results: Autistic children had significantly higher serum antinucleosome-specific antibodies than healthy children (P < 0.001). The seropositivity of antinucleosome-specific antibodies was found in 46.7% of autistic children. Autistic children with a family history of autoimmunity (40%) had a significantly higher frequency of serum antinucleosome-specific antibodies (83.3%) than patients without such a history (22.2%, P < 0.001).
Conclusions: Serum levels of antinucleosome-specific antibodies were increased in some autistic children. However, these data should be treated with caution until further investigations are performed with a larger subject population to determine whether these antibodies have a role in the induction of autoimmunity in a subgroup of autistic children. The role of immunotherapy in children with autism should be also studied.
C1 [Al-Ayadhi, Laila Yousef; Mostafa, Gehan Ahmed] King Saud Univ, Fac Med, Autism Res & Treatment Ctr, AL Amodi Autism Res Chair,Dept Physiol, Riyadh, Saudi Arabia.
[Mostafa, Gehan Ahmed] Ain Shams Univ, Fac Med, Dept Pediat, Cairo 11511, Egypt.
RP Mostafa, GA (reprint author), King Saud Univ, Fac Med, Autism Res & Treatment Ctr, AL Amodi Autism Res Chair,Dept Physiol, Riyadh, Saudi Arabia.
EM gehan.mostafa2000@yahoo.com
FU King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia;
NPST, Health Research and Studies program at Kind Saud University
FX This work was financially supported by the King Abdulaziz City for
Science and Technology, Riyadh, Saudi Arabia. It was also supported by
NPST, Health Research and Studies program at Kind Saud University.
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NR 50
TC 0
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1742-2094
J9 J NEUROINFLAMM
JI J. Neuroinflamm.
PD APR 3
PY 2014
VL 11
AR 69
DI 10.1186/1742-2094-11-69
PG 6
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AF8FW
UT WOS:000334952000002
PM 24708718
ER
PT J
AU Chan, GWL
Goh, ECL
AF Chan, Gina W. L.
Goh, Esther C. L.
TI 'My Parents told us that they will always Treat my Brother Differently
Because he is Autistic' - Are Siblings of Autistic Children the
Forgotten Ones?
SO JOURNAL OF SOCIAL WORK PRACTICE
LA English
DT Article
DE agency; neuro-typical children; autism spectrum disorders; bidirectional
influences; social relations theory; parent-child relationship
ID SPECTRUM DISORDER; ADJUSTMENT; INTERVENTION; SISTERS; SUPPORT
AB Autism spectrum disorder (ASD) does not only affect the child alone, but the family unit as well. This qualitative study explored the impacts of ASD on the relationship between parents and their neuro-typical children and how the neuro-typical children cope with the impacts of having an autistic sibling in the family. Utilising principles of the social relations theory, five Singaporean families (n=10) consisting of five mothers and five neuro-typical children were interviewed. Both the mothers and the neuro-typical children were seen to be equal agents in influencing the interactions with each other, and contributed in maintaining the close relationship through various strategies. Findings revealed that having an autistic child in the family imposed certain constraints and additional responsibilities for the family members. Despite so, the neuro-typical children coped well with such constraints. The in-depth data highlight the value of considering both the agency of mothers and the neuro-typical children and how they bidirectionally influence each other while sharing the caregiving roles for the autistic child in the family. It is strongly recommended for practitioners to incorporate elements of child's agency when expanding their scope of psychosocial intervention work with the neuro-typical children.
C1 [Chan, Gina W. L.] Care Corner Family Serv Ctr, Singapore, Singapore.
[Goh, Esther C. L.] Natl Univ Singapore, SW Dept, Singapore 117570, Singapore.
RP Chan, GWL (reprint author), Care Corner Family Serv Ctr, Singapore, Singapore.
EM wwjd_ginachan@hotmail.com; esther_goh@nus.edu.sg
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WeCAN Early Intervention Programme, 2012, AB AUT
NR 42
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0265-0533
EI 1465-3885
J9 J SOC WORK PRACT
JI J. Soc. Work Pract.
PD APR 3
PY 2014
VL 28
IS 2
BP 155
EP 171
DI 10.1080/02650533.2013.844114
PG 17
WC Social Work
SC Social Work
GA AF4ZK
UT WOS:000334723300003
ER
PT J
AU Uljarevic, M
Prior, MR
Leekam, SR
AF Uljarevic, Mirko
Prior, Margot R.
Leekam, Susan R.
TI First evidence of sensory atypicality in mothers of children with Autism
Spectrum Disorder (ASD)
SO MOLECULAR AUTISM
LA English
DT Article
DE Sensory atypicality; Parents; Autism spectrum disorders
ID TYPICALLY DEVELOPING-CHILDREN; CANDIDATE GENE; SENSITIVITY;
OVERRESPONSIVITY; DEFENSIVENESS; POPULATION; ANXIETY; TACTILE; GABRB3;
ADULTS
AB Background: Atypical reactions to sensory stimuli show heritability in the general population and are a known risk factor for affective disorders. As sensory problems are highly prevalent in individuals with ASD and their siblings, and the occurrence of affective disorders is elevated in parents of children with ASD, investigating sensory symptoms in parents is important both from clinical and theoretical standpoints.
Fifty mothers of children and adolescents with ASD completed the Adolescent and Adult Sensory Profile (AASP). The AASP is a norm-referenced questionnaire that provides scores for four types of responses to sensory stimuli (sensory quadrants): hypo-sensitivity, hyper-sensitivity, sensation seeking, and sensory avoiding.
Findings: Mothers' scores were compared with AASP norms. Ninety eight percent of mothers had sensory scores at least one standard deviation (SD) above the normative mean and 44% were two or more SDs above the mean for at least one sensory quadrant.
Conclusions: This study provides the first evidence for sensory atypicality in parents of children with ASD. Further research is needed to elucidate the contribution of genetic and environmental influences on the expression of sensory problems in ASD.
C1 [Uljarevic, Mirko; Leekam, Susan R.] Cardiff Univ, Sch Psychol, Wales Autism Res Ctr, Cardiff CF10 3A, S Glam, Wales.
[Prior, Margot R.] Univ Melbourne, Melbourne Sch Psychol Sci, Melbourne, Vic 3010, Australia.
RP Uljarevic, M (reprint author), Cardiff Univ, Sch Psychol, Wales Autism Res Ctr, 70 Pk Pl, Cardiff CF10 3A, S Glam, Wales.
EM uljarevicm@cardiff.ac.uk
FU Wales Office of Research and Development for Health and Social Care,
National Institute for Social Care and Health Research; School of
Psychology, Cardiff University
FX This research was supported by PhD funding to MU and SL from the Wales
Office of Research and Development for Health and Social Care, National
Institute for Social Care and Health Research and the School of
Psychology, Cardiff University. We deeply appreciate the support and
time given by the parents who were involved in the research. We thank Dr
Sarah Carrington for helpful comments. We also thank Lynda Morgan and
Bev Winn for their help with recruitment.
CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 25
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD APR 3
PY 2014
VL 5
AR 26
DI 10.1186/2040-2392-5-26
PG 4
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4YD
UT WOS:000334719600001
PM 24694290
ER
PT J
AU Orlic-Milacic, M
Kaufman, L
Mikhailov, A
Cheung, AYL
Mahmood, H
Ellis, J
Gianakopoulos, PJ
Minassian, BA
Vincent, JB
AF Orlic-Milacic, Marija
Kaufman, Liana
Mikhailov, Anna
Cheung, Aaron Y. L.
Mahmood, Huda
Ellis, James
Gianakopoulos, Peter J.
Minassian, Berge A.
Vincent, John B.
TI Over-Expression of Either MECP2_e1 or MECP2_e2 in Neuronally
Differentiated Cells Results in Different Patterns of Gene Expression
SO PLOS ONE
LA English
DT Article
ID SEVERE MENTAL-RETARDATION; RETT-SYNDROME PHENOTYPES; CPG-BINDING
PROTEIN-2; CONGENITAL VARIANT; LANGUAGE DISORDER; FOXG1 MUTATIONS;
TARGET GENES; COPY NUMBER; ISOFORM; AUTISM
AB Mutations in MECP2 are responsible for the majority of Rett syndrome cases. MECP2 is a regulator of transcription, and has two isoforms, MECP2_e1 and MECP2_e2. There is accumulating evidence that MECP2_e1 is the etiologically relevant variant for Rett. In this study we aim to detect genes that are differentially transcribed in neuronal cells over-expressing either of these two MECP2 isoforms. The human neuroblastoma cell line SK-N-SH was stably infected by lentiviral vectors over-expressing MECP2_e1, MECP2_e2, or eGFP, and were then differentiated into neurons. The same lentiviral constructs were also used to infect mouse Mecp2 knockout (Mecp2(tm1.1Bird)) fibroblasts. RNA from these cells was used for microarray gene expression analysis. For the human neuronal cells, similar to 800 genes showed >three-fold change in expression level with the MECP2_e1 construct, and similar to 230 with MECP2_e2 (unpaired t-test, uncorrected p value <0.05). We used quantitative RT-PCR to verify microarray results for 41 of these genes. We found significant up-regulation of several genes resulting from overexpression of MECP2_e1 including SRPX2, NAV3, NPY1R, SYN3, and SEMA3D. DOCK8 was shown via microarray and qRT-PCR to be upregulated in both SK-N-SH cells and mouse fibroblasts. Both isoforms up-regulated GABRA2, KCNA1, FOXG1 and FOXP2. Down-regulation of expression in the presence of MECP2_e1 was seen with UNC5C and RPH3A. Understanding the biology of these differentially transcribed genes and their role in neurodevelopment may help us to understand the relative functions of the two MECP2 isoforms, and ultimately develop a better understanding of RTT etiology and determine the clinical relevance of isoform-specific mutations.
C1 [Orlic-Milacic, Marija; Kaufman, Liana; Mikhailov, Anna; Mahmood, Huda; Gianakopoulos, Peter J.; Vincent, John B.] Ctr Addict & Mental Hlth, Campbell Family Mental Hlth Res Inst, Mol Neuropsychiat & Dev Lab, Toronto, ON, Canada.
[Cheung, Aaron Y. L.; Ellis, James] Hosp Sick Children, Dev & Stem Cell Biol Program, Toronto, ON M5G 1X8, Canada.
[Minassian, Berge A.] Hosp Sick Children, Program Genet & Genom Biol, Toronto, ON M5G 1X8, Canada.
[Minassian, Berge A.] Hosp Sick Children, Dept Paediat, Div Neurol, Toronto, ON M5G 1X8, Canada.
[Vincent, John B.] Univ Toronto, Dept Psychiat, Toronto, ON, Canada.
[Vincent, John B.] Univ Toronto, Inst Med Sci, Toronto, ON, Canada.
RP Vincent, JB (reprint author), Ctr Addict & Mental Hlth, Campbell Family Mental Hlth Res Inst, Mol Neuropsychiat & Dev Lab, Toronto, ON, Canada.
EM john.vincent@camh.ca
RI Ellis, James/F-4789-2011
FU International Rett Syndrome Foundation; Ontario Mental Health
Foundation; Cure Autism Now
FX This work was supported by funding from International Rett Syndrome
Foundation, Ontario Mental Health Foundation, and Cure Autism Now to JBV
and BAM. JBV is a National Alliance for Research on Schizophrenia and
Depression Independent Investigator. The funders had no role in study
design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 54
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD APR 3
PY 2014
VL 9
IS 4
AR e91742
DI 10.1371/journal.pone.0091742
PG 17
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AE6LR
UT WOS:000334105000015
PM 24699272
ER
PT J
AU Kim, S
AF Kim, Seahwa
TI A Defence of Semantic Pretence Hermeneutic Fictionalism Against the
Autism Objection
SO AUSTRALASIAN JOURNAL OF PHILOSOPHY
LA English
DT Article
DE hermeneutic fictionalism; autism; mathematics; Yablo; pretence; autism
objection; Walton
ID ELICITED PLAY; CHILDREN; MIND
AB I defend pretence hermeneutic fictionalism against the Autism Objection. The objection is this: since people with autism have no difficulty in engaging with mathematics even if they cannot pretend, it is not the case that engagement with mathematics involves pretence. I show that a previous response to the objection is inadequate as a defence of the kind of pretence hermeneutic fictionalism put forward as a semantic thesis about the discourse in question. I claim that a more general response to the Autism Objection is to deny the premise that people with autism cannot pretend. To motivate this response, I appeal to psychological studies suggesting that people with autism can understand pretence and they can pretend under certain conditions. Finally, I provide explanations for why it is the case that people with autism do not have a problem with engaging in mathematics whereas they have so much difficulty with other kinds of figurative language and pretence.
C1 Ewha Womans Univ, Seoul, South Korea.
RP Kim, S (reprint author), Ewha Womans Univ, Seoul, South Korea.
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NR 29
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0004-8402
EI 1471-6828
J9 AUSTRALAS J PHILOS
JI Australas. J. Philos.
PD APR 3
PY 2014
VL 92
IS 2
BP 321
EP 333
DI 10.1080/00048402.2013.832787
PG 13
WC Philosophy
SC Philosophy
GA AE7EI
UT WOS:000334159100008
ER
PT J
AU McGillicuddy, S
O'Donnell, GM
AF McGillicuddy, Sarah
O'Donnell, Grainne M.
TI Teaching students with autism spectrum disorder in mainstream
post-primary schools in the Republic of Ireland
SO INTERNATIONAL JOURNAL OF INCLUSIVE EDUCATION
LA English
DT Article
DE initial teacher education; educational system; inclusive education;
special educational needs; continuing professional development
ID SPECIAL EDUCATIONAL-NEEDS; GENERAL-EDUCATION; INCLUSIVE EDUCATION;
INCLUDING CHILDREN; SECONDARY-SCHOOLS; ASPERGER-SYNDROME; ATTITUDES;
EXPERIENCES; CLASSROOMS; TEACHERS
AB This qualitative study explored teachers' perceptions of the inclusive education of students with autism spectrum disorder (ASD) at the post-primary level, specifically those with Asperger syndrome. Semi-structured interviews were conducted with eight mainstream teachers in the Republic of Ireland. One of the main findings of the study was that the teachers' implicit model of inclusion was more consistent with integration than with inclusive education. Although systemic barriers to inclusive education were identified, the teachers' focus tended to be on managing within the system rather than on bringing about systemic change. Mainstream post-primary education was endorsed by teachers for their students with ASD, despite perceiving that these students were unhappy and socially excluded. The teachers were confident in teaching students with ASD, primarily as a result of their experience. The implications of the study for teacher educators and future researchers are discussed.
C1 [McGillicuddy, Sarah; O'Donnell, Grainne M.] Natl Univ Ireland Univ Coll Dublin, Sch Educ, Roebuck Off, Dublin 4, Ireland.
RP McGillicuddy, S (reprint author), Natl Univ Ireland Univ Coll Dublin, Sch Educ, Roebuck Off, Dublin 4, Ireland.
EM smcgillicuddy1@gmail.com
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NR 83
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1360-3116
EI 1464-5173
J9 INT J INCLUSIVE EDUC
JI Int. J. Incl. Educ.
PD APR 3
PY 2014
VL 18
IS 4
BP 323
EP 344
DI 10.1080/13603116.2013.764934
PG 22
WC Education & Educational Research
SC Education & Educational Research
GA AE5MQ
UT WOS:000334033700001
ER
PT J
AU Skovlund, H
AF Skovlund, Henrik
TI Inclusive and exclusive aspects of diagnosed children's self-concepts in
special needs institutions
SO INTERNATIONAL JOURNAL OF INCLUSIVE EDUCATION
LA English
DT Article
DE pragmatism; attention deficit hyperactivity disorder; autism; special
needs institutions; self-concept
ID LEARNING-DISABILITIES; ACADEMIC-ACHIEVEMENT; EMPOWERMENT; ADHD
AB Eight children between 7 and 11 years of age were interviewed about their understanding of their own diagnoses. The diagnoses in question were attention deficit hyperactivity disorder, autism and nonverbal learning disorder. They were from different special schools that are segregated from state schools. In addition to the interviews, a role play setting with dolls representing a school teacher, parents, peers, a school psychologist and a doctor was used as a basis for speaking about the children's understanding of the special school in relation to their diagnoses. The study revealed that the children use a simplified medical model for understanding their diagnoses and behaviour. Furthermore, they partly perceive the special school as a medical institution, as well as an educational institution. Finally, the study showed that the children consider themselves different from normal children and incapable of participating in shared learning communities such as state schools. This is of particular interest in relation to these children's future transition from special schools to public learning institutions, especially with regard to their inclusion in the latter.
C1 Univ Aarhus, Dept Educ, DK-2400 Copenhagen NV, Denmark.
RP Skovlund, H (reprint author), Univ Aarhus, Dept Educ, Tuborgvej 164,Bldg D,202, DK-2400 Copenhagen NV, Denmark.
EM hens@dpu.dk
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NR 45
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1360-3116
EI 1464-5173
J9 INT J INCLUSIVE EDUC
JI Int. J. Incl. Educ.
PD APR 3
PY 2014
VL 18
IS 4
BP 392
EP 410
DI 10.1080/13603116.2013.778336
PG 19
WC Education & Educational Research
SC Education & Educational Research
GA AE5MQ
UT WOS:000334033700005
ER
PT J
AU Knott, F
Taylor, A
AF Knott, Fiona
Taylor, Angela
TI Life at university with Asperger syndrome: a comparison of student and
staff perspectives
SO INTERNATIONAL JOURNAL OF INCLUSIVE EDUCATION
LA English
DT Article
DE student experience; high functioning autism; student support; student
voice; Asperger syndrome; university
ID HIGHER-EDUCATION; AUTISM SPECTRUM; DISABILITIES; DIAGNOSIS; SUPPORT
AB Although increasing numbers of students with disabilities are accessing higher education, there is relatively little information about the needs of students with Asperger syndrome (AS). Crucially, students themselves have rarely been included in research examining their needs or the supports they might find helpful. Three focus groups, one with students with AS and two with staff were conducted to explore the challenges, barriers and supports to students' successful progress through one university in the UK. Thematic analysis revealed some key differences between staff and student perspectives, particularly with regard to impact of sensory sensitivities and daily life difficulties on academic progress. Students and staff also held differing views about what is helpful, relating to disclosure of diagnosis and the value of formal social supports. The study highlights the importance of developing services beyond traditional academic supports that students with AS themselves feel are valuable.
C1 [Knott, Fiona; Taylor, Angela] Univ Reading, Sch Psychol & Clin Language Sci, Reading RG6 6AL, Berks, England.
RP Knott, F (reprint author), Univ Reading, Sch Psychol & Clin Language Sci, Reading RG6 6AL, Berks, England.
EM f.j.knott@reading.ac.uk
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NR 30
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1360-3116
EI 1464-5173
J9 INT J INCLUSIVE EDUC
JI Int. J. Incl. Educ.
PD APR 3
PY 2014
VL 18
IS 4
BP 411
EP 426
DI 10.1080/13603116.2013.781236
PG 16
WC Education & Educational Research
SC Education & Educational Research
GA AE5MQ
UT WOS:000334033700006
ER
PT J
AU Grozeva, D
Carss, K
Spasic-Boskovic, O
Parker, MJ
Archer, H
Firth, HV
Park, SM
Canham, N
Holder, SE
Wilson, M
Hackett, A
Field, M
Floyd, JAB
Hurles, M
Raymond, FL
AF Grozeva, Detelina
Carss, Keren
Spasic-Boskovic, Olivera
Parker, Michael J.
Archer, Hayley
Firth, Helen V.
Park, Soo-Mi
Canham, Natalie
Holder, Susan E.
Wilson, Meredith
Hackett, Anna
Field, Michael
Floyd, James A. B.
Hurles, Matthew
Raymond, F. Lucy
CA UK10K Consortium
TI De Novo Loss-of-Function Mutations in SETD5, Encoding a
Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region,
Cause Intellectual Disability
SO AMERICAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
ID KABUKI SYNDROME; DELETION SYNDROME; PATIENT; SPECTRUM; FEATURES; GENES;
MLL2; HAPLOINSUFFICIENCY; 3P25.3-P26.1; DISEASE
AB To identify further Mendelian causes of intellectual disability (ID), we screened a cohort of 996 individuals with ID for variants in 565 known or candidate genes by using a targeted next-generation sequencing approach. Seven loss-of-function (LoF) mutations-four nonsense (c.1195A>T [p. Lys399*], c.1333C>T [p.Arg445*], c.1866C>G [p.Tyr622*], and c.3001C>T [p.Arg1001*]) and three frameshift (c.2177_2178del [p.Thr726Asnfs*39], c.3771dup [p.Ser1258Glufs*65], and c.3856del [p.Ser1286Leufs*84])-were identified in SETD5, a gene predicted to encode a methyltransferase. All mutations were compatible with de novo dominant inheritance. The affected individuals had moderate to severe ID with additional variable features of brachycephaly; a prominent high forehead with synophrys or striking full and broad eyebrows; a long, thin, and tubular nose; long, narrow upslanting palpebral fissures; and large, fleshy low-set ears. Skeletal anomalies, including significant leg-length discrepancy, were a frequent finding in two individuals. Congenital heart defects, inguinal hernia, or hypospadias were also reported. Behavioral problems, including obsessive-compulsive disorder, hand flapping with ritualized behavior, and autism, were prominent features. SETD5 lies within the critical interval for 3p25 microdeletion syndrome. The individuals with SETD5 mutations showed phenotypic similarity to those previously reported with a deletion in 3p25, and thus loss of SETD5 might be sufficient to account for many of the clinical features observed in this condition. Our findings add to the growing evidence that mutations in genes encoding methyltransferases regulating histone modification are important causes of ID. This analysis provides sufficient evidence that rare de novo LoF mutations in SETD5 are a relatively frequent (0.7%) cause of ID.
C1 [Grozeva, Detelina; Spasic-Boskovic, Olivera; Raymond, F. Lucy] Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Cambridge CB2 0XY, England.
[Carss, Keren; Floyd, James A. B.; Hurles, Matthew; UK10K Consortium] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England.
[Parker, Michael J.] Sheffield Childrens Hosp, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, England.
[Archer, Hayley] Univ Hosp Wales, Inst Med Genet, Cardiff CF14 4XW, S Glam, Wales.
[Firth, Helen V.; Park, Soo-Mi] Cambridge Univ Hosp NHS Fdn Trust, Addenbrookes Treatment Ctr, Cambridge CB2 0QQ, England.
[Canham, Natalie; Holder, Susan E.] North West London Hosp NHS Trust, Kennedy Galton Ctr, North West Thames Reg Genet Serv, Harrow HA1 3UJ, Middx, England.
[Wilson, Meredith] Childrens Hosp Westmead, Dept Clin Genet, Westmead, NSW 2145, Australia.
[Hackett, Anna] Hunter Genet, Genet Learning Disabil Serv, Waratah, NSW 2298, Australia.
[Field, Michael] Royal N Shore Hosp, Dept Med Genet, St Leonards, NSW 2298, Australia.
[Floyd, James A. B.] Queen Mary Univ London, John Vane Sci Ctr, Genome Ctr, London EC1M 6BQ, England.
RP Raymond, FL (reprint author), Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Cambridge CB2 0XY, England.
EM flr24@cam.ac.uk
FU Wellcome Trust [WT091310]; Action Medical Research; Birth Defect
Foundation; Cambridge National Institute for Health Research Biomedical
Research Centre
FX We are indebted to all individuals who participated in the study. This
study made use of data generated by the UK10K Project. Funding for the
UK10K Project was provided by the Wellcome Trust under award WT091310. A
full list of consortium members can be found at the UK10K Project
website. This study was supported by grants from Action Medical
Research, the Birth Defect Foundation, and the Cambridge National
Institute for Health Research Biomedical Research Centre.
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NR 29
TC 5
Z9 5
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0002-9297
EI 1537-6605
J9 AM J HUM GENET
JI Am. J. Hum. Genet.
PD APR 3
PY 2014
VL 94
IS 4
BP 618
EP 624
DI 10.1016/j.ajhg.2014.03.006
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AE1XC
UT WOS:000333765300012
PM 24680889
ER
PT J
AU Beaudry, O
Roy-Charland, A
Perron, M
Cormier, I
Tapp, R
AF Beaudry, Olivia
Roy-Charland, Annie
Perron, Melanie
Cormier, Isabelle
Tapp, Roxane
TI Featural processing in recognition of emotional facial expressions
SO COGNITION & EMOTION
LA English
DT Article
DE Facial expressions; Recognition task; Eye-tracking; Featural processing
ID FACE; IDENTIFICATION; ORIENTATION; PERCEPTION; PROTOTYPES; INVERSION;
PATTERNS; CHILDREN; AUTISM; ADULTS
AB The present study aimed to clarify the role played by the eye/brow and mouth areas in the recognition of the six basic emotions. In Experiment 1, accuracy was examined while participants viewed partial and full facial expressions; in Experiment 2, participants viewed full facial expressions while their eye movements were recorded. Recognition rates were consistent with previous research: happiness was highest and fear was lowest. The mouth and eye/brow areas were not equally important for the recognition of all emotions. More precisely, while the mouth was revealed to be important in the recognition of happiness and the eye/brow area of sadness, results are not as consistent for the other emotions. In Experiment 2, consistent with previous studies, the eyes/brows were fixated for longer periods than the mouth for all emotions. Again, variations occurred as a function of the emotions, the mouth having an important role in happiness and the eyes/brows in sadness. The general pattern of results for the other four emotions was inconsistent between the experiments as well as across different measures. The complexity of the results suggests that the recognition process of emotional facial expressions cannot be reduced to a simple feature processing or holistic processing for all emotions.
C1 [Beaudry, Olivia; Roy-Charland, Annie; Perron, Melanie; Tapp, Roxane] Laurentian Univ, Dept Psychol, Sudbury, ON P3E 2C6, Canada.
[Cormier, Isabelle] Univ Moncton, Ecole Psychol, Moncton, NB E1A 3E9, Canada.
RP Beaudry, O (reprint author), Laurentian Univ, Dept Psychol, 935 Ramsey Lake Rd, Sudbury, ON P3E 2C6, Canada.
EM eob9556@umoncton.ca
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NR 42
TC 1
Z9 1
PU PSYCHOLOGY PRESS
PI HOVE
PA 27 CHURCH RD, HOVE BN3 2FA, EAST SUSSEX, ENGLAND
SN 0269-9931
EI 1464-0600
J9 COGNITION EMOTION
JI Cogn. Emot.
PD APR 3
PY 2014
VL 28
IS 3
BP 416
EP 432
DI 10.1080/02699931.2013.833500
PG 17
WC Psychology, Experimental
SC Psychology
GA 301AL
UT WOS:000330505000002
PM 24047413
ER
PT J
AU Verma, D
Chakraborti, B
Karmakar, A
Bandyopadhyay, T
Singh, AS
Sinha, S
Chatterjee, A
Ghosh, S
Mohanakumar, KP
Mukhopadhyay, K
Rajamma, U
AF Verma, Deepak
Chakraborti, Barnali
Karmakar, Arijit
Bandyopadhyay, Tirthankar
Singh, Asem Surindro
Sinha, Swagata
Chatterjee, Anindita
Ghosh, Saurabh
Mohanakumar, Kochupurackal P.
Mukhopadhyay, Kanchan
Rajamma, Usha
TI Sexual dimorphic effect in the genetic association of monoamine oxidase
A (MAOA) markers with autism spectrum disorder
SO PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Allele; Autism spectrum disorder; Genetic association; Haplotype;
Monoamine oxidase A; Sexual dimorphism
ID POPULATION-BASED ASSOCIATION; FUNCTIONAL POLYMORPHISM; VNTR
POLYMORPHISM; INDIAN POPULATION; PROMOTER-REGION; POINT MUTATION; A
GENE; VARIANTS; BEHAVIOR; MICE
AB Autism spectrum disorders are heritable and behaviorally-defined neurodevelopmental disorders having skewed sex ratio. Serotonin as modulator of behavior and implication of serotonergic dysfunction in ASD etiology corroborates that serotonergic system genes are potential candidates for autism susceptibility. In the current study X-chromosomal gene, MAOA responsible for degradation of serotonin is investigated for possible association with ASD using population-based approach. Study covers analysis of 8 markers in 421 subjects including cases and ethnically-matched controls from West Bengal. MAOA marker, rs6323 and various haplotypes formed between the markers show significant association with the disorder. Stratification on the basis of sex reveals significant genetic effect of rs6323 with low activity T allele posing higher risk in males, but not in females. Haplotypic association results also show differential effect both in males and females. Contrasting linkage disequilibrium pattern between pair of markers involving rs6323 in male cases and controls further supports the sex-bias in genetic association. Bioinformatic analysis shows presence of Y-encoded SRY transcription factor binding sites in the neighborhood of rs1137070. C allele of rs1137070 causes deletion of GATA-2 binding site and GATA-2 is known to interact with SRY. This is the first study highlighting male-specific effect of rs6323 marker and its haplotypes in ASD etiology and it suggests sexual dimorphic effect of MAOA in this disorder. Overall results of this study identify MAOA as a possible ASD susceptibility locus and the differential genetic effect in males and females might contribute to the sex ratio differences and molecular pathology of the disorder. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Verma, Deepak; Chakraborti, Barnali; Karmakar, Arijit; Bandyopadhyay, Tirthankar; Singh, Asem Surindro; Mukhopadhyay, Kanchan; Rajamma, Usha] Manovikas Kendra, Manovikas Biomed Res & Diagnost Ctr, Kolkata 700107, W Bengal, India.
[Sinha, Swagata; Chatterjee, Anindita] Manovikas Kendra, Out Patients Dept, Kolkata 700107, W Bengal, India.
[Mohanakumar, Kochupurackal P.] CSIR Indian Inst Chem Biol, Cell Biol & Physiol Div, Lab Clin & Expt Neurosci, Kolkata, W Bengal, India.
[Ghosh, Saurabh] Indian Stat Inst, Human Genet Unit, Kolkata, W Bengal, India.
RP Rajamma, U (reprint author), Manovikas Kendra, Manovikas Biomed Res & Diagnost Ctr, 482 Madudah,Plot I-24,Sect J,EM Bypass, Kolkata 700107, W Bengal, India.
EM ushamvk@yahoo.co.in
FU Department of Biotechnology (DBT), Govt. of India
[BT/PR14637MED/30/561/2010]; Council of Scientific and Industrial
Research (CSIR), Govt. of India (Junior Research Fellowship) [Admn
9/840(0009) EMR-I/2011]
FX The present study is supported by the Department of Biotechnology (DBT),
Govt. of India grant to KPM, KM and UR vide BT/PR14637MED/30/561/2010
dated 28/11/2011 and the Council of Scientific and Industrial Research
(CSIR), Govt. of India (Junior Research Fellowship to DV, award no. Admn
9/840(0009) EMR-I/2011 dated 25/03/2011). BC and AK have been working
for this project as Junior Research Fellows. TB was a summer project
student who worked in this project.
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NR 55
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0278-5846
J9 PROG NEURO-PSYCHOPH
JI Prog. Neuro-Psychopharmacol. Biol. Psychiatry
PD APR 3
PY 2014
VL 50
BP 11
EP 20
DI 10.1016/j.pnpbp.2013.11.010
PG 10
WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA 302AQ
UT WOS:000330574000002
PM 24291416
ER
PT J
AU Stewart, AM
Nguyen, M
Wong, K
Poudel, MK
Kalueff, AV
AF Stewart, Adam Michael
Nguyen, Michael
Wong, Keith
Poudel, Manoj K.
Kalueff, Allan V.
TI Developing zebrafish models of autism spectrum disorder (ASD)
SO PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
LA English
DT Review
DE Autism spectrum disorder; Behavioral tests; Social deficits;
Translational research; Zebrafish
ID ANXIETY-RELATED BEHAVIOR; SOCIAL APPROACH BEHAVIOR; BTBR MOUSE MODEL;
DANIO-RERIO; REPETITIVE BEHAVIOR; OXYTOCIN SECRETION; DEVELOPING
UTILITY; ADULT ZEBRAFISH; ANIMAL-MODELS; KNOCKOUT MICE
AB Autismspectrumdisorder (ASD) is a serious neurodevelopmental disorder with complex symptoms and unclear, multi-factorial pathogenesis. Animal (rodent) models of ASD-like behavior are extensively used to study genetics, circuitry and molecular mechanisms of ASD. The evolutionarily conserved nature of social behavior and its molecular pathways suggests that alternative experimental models can be developed to complement and enhance the existing rodent ASD paradigms. The zebrafish (Danio rerio) is rapidly becoming a popular model organism in neuroscience and biological psychiatry to study brain function, model human brain disorders and explore their genetic or pharmacological modulation. Representing highly social animals, zebrafish emerge as a strong potential model organism to study normal and pathological social phenotypes, as well as several other ASD-like symptoms. Here, we discuss the developing utility of zebrafish in modeling ASD as a new emerging field in translational neuroscience and drug discovery. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Stewart, Adam Michael; Poudel, Manoj K.; Kalueff, Allan V.] ZENEREI Inst, Slidell, LA 70458 USA.
[Stewart, Adam Michael; Poudel, Manoj K.; Kalueff, Allan V.] ZNRC, Slidell, LA 70458 USA.
[Stewart, Adam Michael] Univ Pittsburgh, Dept Neurosci, Pittsburgh, PA 15260 USA.
[Nguyen, Michael] Univ Virginia, Dept Biomed Engn, Charlottesville, VA 22908 USA.
[Wong, Keith] UCSD, Sch Med, La Jolla, CA 92093 USA.
RP Kalueff, AV (reprint author), ZENEREI Inst, 309 Palmer Court, Slidell, LA 70458 USA.
EM avkalueff@gmail.com
FU International Zebrafish Neuroscience Research Consortium (ZNRC); ZENEREI
Institute
FX The authors' research has been supported by the International Zebrafish
Neuroscience Research Consortium (ZNRC) and the ZENEREI Institute.
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NR 132
TC 9
Z9 9
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0278-5846
J9 PROG NEURO-PSYCHOPH
JI Prog. Neuro-Psychopharmacol. Biol. Psychiatry
PD APR 3
PY 2014
VL 50
BP 27
EP 36
DI 10.1016/j.pnpbp.2013.11.014
PG 10
WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA 302AQ
UT WOS:000330574000004
PM 24315837
ER
PT J
AU Sugarman, LI
Garrison, BL
Williford, KL
AF Sugarman, Laurence I.
Garrison, Brian L.
Williford, Kelsey L.
TI Symptoms as Solutions: Hypnosis and Biofeedback for Autonomic Regulation
in Autism Spectrum Disorders
SO AMERICAN JOURNAL OF CLINICAL HYPNOSIS
LA English
DT Article
DE autism; autism spectrum disorder; autonomic regulation; biofeedback;
hypnosis; repetitive behaviors
ID COMPUTER-ASSISTED-INSTRUCTION; TERM-FOLLOW-UP; REPETITIVE BEHAVIOR;
YOUNG-CHILDREN; ANIMAL-MODELS; SELF-HYPNOSIS; HEART-RATE; OXYTOCIN;
ANXIETY; DYSFUNCTION
AB The Autonomic Dysregulation Theory of autism posits that a phylogenetically early autonomic defect leads to overarousal and impairments in language and social engagement. Cognitive rigidity and repetitive behaviors manifest as mitigating efforts. Focusing on the implications of this premise may provide more productive therapeutic approaches than existing methods. It suggests that self-regulation therapy using hypnosis and biofeedback should be highly effective, especially for young people. Hypnotic strategies can utilize restrictive repetitive behaviors in trance as resources for comfort and control. Biofeedback training can be tailored to focus on autonomic regulation. The authors develop this theory and describe methods of integrating hypnosis and biofeedback that have been therapeutic for people with autism. Directions for future research to validate this approach are discussed.
C1 [Sugarman, Laurence I.; Garrison, Brian L.; Williford, Kelsey L.] Rochester Inst Technol, Rochester, NY 14623 USA.
RP Sugarman, LI (reprint author), Rochester Inst Technol, Coll Hlth Sci & Technol, 153 Lomb Mem Dr, Rochester, NY 14623 USA.
EM lisdsp@rit.edu
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NR 88
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0002-9157
J9 AM J CLIN HYPN
JI Am. J. Clin. Hypn.
PD APR 3
PY 2014
VL 56
IS 2
BP 152
EP 173
DI 10.1080/00029157.2013.768197
PG 22
WC Psychology, Clinical
SC Psychology
GA 212QB
UT WOS:000323996800005
ER
PT J
AU McCarthy, M
AF McCarthy, Michael
TI Autism diagnoses in the US rise by 30%, CDC reports
SO BMJ-BRITISH MEDICAL JOURNAL
LA English
DT News Item
CR Parks SE, 2014, MMWR SURVEILL SUMM, V63, P1
NR 1
TC 1
Z9 1
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 1756-1833
J9 BMJ-BRIT MED J
JI BMJ-British Medical Journal
PD APR 2
PY 2014
VL 348
AR g2520
DI 10.1136/bmj.g2520
PG 1
WC Medicine, General & Internal
SC General & Internal Medicine
GA AE4TP
UT WOS:000333977000014
PM 24696178
ER
PT J
AU Eisinger, BE
Driessen, TM
Zhao, CJ
Gammie, SC
AF Eisinger, Brian E.
Driessen, Terri M.
Zhao, Changjiu
Gammie, Stephen C.
TI Medial prefrontal cortex: genes linked to bipolar disorder and
schizophrenia have altered expression in the highly social maternal
phenotype
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE microarray; bipolar disorder; schizophrenia; maternal behavior; social
behavior
ID RIBONUCLEIC-ACID LEVELS; PDGF BETA-RECEPTOR; LATERAL SEPTUM;
CAENORHABDITIS-ELEGANS; PSYCHIATRIC-DISORDERS; POSTPARTUM PSYCHOSIS;
EMOTIONAL RESPONSES; STRESS RESPONSES; NERVOUS-SYSTEM; GROWTH-FACTOR
AB The transition to motherhood involves CNS changes that modify sociability and affective state. However, these changes also put females at risk for post-partum depression and psychosis, which impairs parenting abilities and adversely affects children. Thus, changes in expression and interactions in a core subset of genes may be critical for emergence of a healthy maternal phenotype, but inappropriate changes of the same genes could put women at risk for post-partum disorders. This study evaluated microarray gene expression changes in medial prefrontal cortex (mPFC), a region implicated in both maternal behavior and psychiatric disorders. Post-partum mice were compared to virgin controls housed with females and isolated for identical durations. Using the Modular Single-set Enrichment Test (MSET), we found that the genetic landscape of maternal mPFC bears statistical similarity to gene databases associated with schizophrenia (5 of 5 sets) and bipolar disorder (BPD, 3 of 3 sets). In contrast to previous studies of maternal lateral septum (LS) and medial preoptic area (MPOA), enrichment of autism and depression-linked genes was not significant (2 of 9 sets, 0 of 4 sets). Among genes linked to multiple disorders were fatty acid binding protein 7 (Fabp7), glutamate metabotropic receptor 3 (Grm3), platelet derived growth factor, beta polypeptide (Pdgfrb), and nuclear receptor subfamily 1, group D, member 1 (Nr1d1). RT-qPCR confirmed these gene changes as well as FMS-like tyrosine kinase 1 (Flt1) and proenkephalin (Penk). Systems-level methods revealed involvement of developmental gene networks in establishing the maternal phenotype and indirectly suggested a role for numerous microRNAs and transcription factors in mediating expression changes. Together, this study suggests that a subset of genes involved in shaping the healthy maternal brain may also be dysregulated in mental health disorders and put females at risk for post-partum psychosis with aspects of schizophrenia and BPD.
C1 [Eisinger, Brian E.; Driessen, Terri M.; Zhao, Changjiu; Gammie, Stephen C.] Univ Wisconsin, Dept Zool, Madison, WI 53706 USA.
[Gammie, Stephen C.] Univ Wisconsin, Neurosci Training Program, Madison, WI 53706 USA.
RP Eisinger, BE (reprint author), Univ Wisconsin, Dept Zool, 430 Lincoln Dr, Madison, WI 53706 USA.
EM beeisinger@wisc.edu
RI Zhao, Changjiu/M-8263-2014
FU United States National Institutes of Health [R01 MH 085642]
FX The authors wish to thank Sharon Stevenson for managerial support, Wayne
Davis and the University of Wisconsin-Madison Gene Expression Center for
microarray technical assistance, and Kate Skogen and Jeff Alexander for
animal care. This work was supported by the United States National
Institutes of Health Grant R01 MH 085642 to Stephen Gammie.
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NR 104
TC 2
Z9 2
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5153
J9 FRONT BEHAV NEUROSCI
JI Front. Behav. Neurosci.
PD APR 2
PY 2014
VL 8
AR 110
DI 10.3389/fnbeh.2014.00110
PG 14
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AD9KB
UT WOS:000333582800001
PM 24765068
ER
PT J
AU Simms, BA
Zamponi, GW
AF Simms, Brett A.
Zamponi, Gerald W.
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SO NEURON
LA English
DT Review
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STATIONARY NIGHT BLINDNESS; T-TYPE CHANNELS; CORTICAL SPREADING
DEPRESSION; HEMIPLEGIC MIGRAINE MUTATIONS; CHILDHOOD ABSENCE EPILEPSY;
AUTISM SPECTRUM DISORDERS; CEREBELLAR PURKINJE-CELLS;
PROTEIN-INTERACTION SITE
AB Voltage-gated calcium channels are the primary mediators of depolarization-induced calcium entry into neurons. There is great diversity of calcium channel subtypes due to multiple genes that encode calcium channel alpha 1 subunits, coassembly with a variety of ancillary calcium channel subunits, and alternative splicing. This allows these channels to fulfill highly specialized roles in specific neuronal subtypes and at particular subcellular loci. While calcium channels are of critical importance to brain function, their inappropriate expression or dysfunction gives rise to a variety of neurological disorders, including, pain, epilepsy, migraine, and ataxia. This Review discusses salient aspects of voltage-gated calcium channel function, physiology, and pathophysiology.
C1 [Simms, Brett A.; Zamponi, Gerald W.] Univ Calgary, Hotchkiss Brain Inst, Dept Physiol & Pharmacol, Calgary, AB T2N 4N1, Canada.
RP Zamponi, GW (reprint author), Univ Calgary, Hotchkiss Brain Inst, Dept Physiol & Pharmacol, Calgary, AB T2N 4N1, Canada.
EM zamponi@ucalgary.ca
FU AIHS
FX G.W.Z. is a Canada Research Chair and an Alberta Innovates-Health
Solutions (AIHS) Scientist. B.A.S. holds an AIHS doctoral studentship.
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NR 318
TC 25
Z9 25
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
EI 1097-4199
J9 NEURON
JI Neuron
PD APR 2
PY 2014
VL 82
IS 1
BP 24
EP 45
DI 10.1016/j.neuron.2014.03.016
PG 22
WC Neurosciences
SC Neurosciences & Neurology
GA AE2LP
UT WOS:000333804800005
PM 24698266
ER
PT J
AU Chu, MY
Meyer, A
Foulkes, L
Kita, S
AF Chu, Mingyuan
Meyer, Antje
Foulkes, Lucy
Kita, Sotaro
TI Individual Differences in Frequency and Saliency of Speech-Accompanying
Gestures: The Role of Cognitive Abilities and Empathy
SO JOURNAL OF EXPERIMENTAL PSYCHOLOGY-GENERAL
LA English
DT Article
DE gesture production; working memory; spatial transformation ability;
conceptualization ability; empathy
ID CONVERSATIONAL HAND GESTURES; EXECUTIVE FUNCTIONS; LEXICAL MOVEMENTS;
COMMUNICATION; AUTISM; RECOGNITION; INFORMATION; PERSONALITY;
REGRESSION; RETRIEVAL
AB The present study concerns individual differences in gesture production. We used correlational and multiple regression analyses to examine the relationship between individuals' cognitive abilities and empathy levels and their gesture frequency and saliency. We chose predictor variables according to experimental evidence of the functions of gesture in speech production and communication. We examined 3 types of gestures: representational gestures, conduit gestures, and palm-revealing gestures. Higher frequency of representational gestures was related to poorer visual and spatial working memory, spatial transformation ability, and conceptualization ability; higher frequency of conduit gestures was related to poorer visual working memory, conceptualization ability, and higher levels of empathy; and higher frequency of palm-revealing gestures was related to higher levels of empathy. The saliency of all gestures was positively related to level of empathy. These results demonstrate that cognitive abilities and empathy levels are related to individual differences in gesture frequency and saliency.
C1 [Chu, Mingyuan] Max Planck Inst Psycholinguist, Neurobiol Language Dept, NL-6500 AH Nijmegen, Netherlands.
[Meyer, Antje] Max Planck Inst Psycholinguist, Psychol Language Dept, NL-6500 AH Nijmegen, Netherlands.
[Meyer, Antje] Radboud Univ Nijmegen, Sch Psychol, NL-6525 ED Nijmegen, Netherlands.
[Foulkes, Lucy] UCL, Dept Clin Educ & Hlth Psychol, London, England.
[Kita, Sotaro] Univ Birmingham, Sch Psychol, Birmingham B15 2TT, W Midlands, England.
RP Chu, MY (reprint author), Max Planck Inst Psycholinguist, Neurobiol Language Dept, POB 310, NL-6500 AH Nijmegen, Netherlands.
EM mingyuan.chu@mpi.nl
RI Kita, Sotaro/B-2860-2008
OI Kita, Sotaro/0000-0002-0088-3654
FU Economic and Social Research Council [RES-062-23-2002]
FX This research was supported by Economic and Social Research Council
Grant RES-062-23-2002 to Sotaro Kita and Antje Meyer. For more
information about the research materials underlying this article, please
contact the corresponding author. We thank Farzana Bhaiyat, Christina
Chelioti, Dayal Dhiman, Rachel Furness, Alicia Griffiths, Beatrice
Hannah, Sagar Jilka, Johnny King Lau, Valentina Lee, Zeshu Shao, Callie
Steadman, and Laura Torney for their help with data collection and
coding. We thank Birmingham City University, Bishop Vesey's Grammar
School, City College Birmingham, CTC Kingshurst Academy, and University
College Birmingham for their participation in our research.
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NR 68
TC 5
Z9 5
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0096-3445
EI 1939-2222
J9 J EXP PSYCHOL GEN
JI J. Exp. Psychol.-Gen.
PD APR
PY 2014
VL 143
IS 2
BP 694
EP 709
DI 10.1037/a0033861
PG 18
WC Psychology, Experimental
SC Psychology
GA CB6WR
UT WOS:000349768000019
PM 23915128
ER
PT J
AU Wilkinson, KM
O'Neill, T
Mcllvane, WJ
AF Wilkinson, Krista M.
O'Neill, Tara
Mcllvane, William J.
TI Eye-Tracking Measures Reveal How Changes in the Design of Aided AAC
Displays Influence the Efficiency of Locating Symbols by School-Age
Children Without Disabilities
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE augmentative and alternative communication; children; developmental
disorders; intervention
ID SHORT-TERM-MEMORY; VISUAL-SEARCH; DOWN-SYNDROME; ATTENTION DEFICITS;
WORKING-MEMORY; YOUNG-CHILDREN; COLOR; AUTISM; INDIVIDUALS; TARGET
AB Purpose: Many individuals with communication impairments use aided augmentative and alternative communication (AAC) systems involving letters, words, or line drawings that rely on the visual modality. It seems reasonable to suggest that display design should incorporate information about how users attend to and process visual information. The organization of AAC symbols can influence the speed and accuracy with which children select a target symbol on a display. This research examined why some displays facilitate responding.
Method: Eye-tracking technology recorded point-of-gaze while children without disabilities engaged in a visual search task with 2 AAC displays. In 1 display, symbols sharing an internal color were clustered together. In the other display, like-colored symbols were distributed. Dependent measures were (a) latency to fixate on the target compared with distracters and (b) the number of fixations to target and distracters.
Results: Participants were significantly slower to fixate on the target when like-colored symbols were distributed; there was a significant increase in the number of fixations to distracters that did not share color with the target.
Conclusions: Efficient search was related to minimizing fixations to nonrelevant distracters. Vulnerability to distraction can be a significant problem in individuals with disabilities who use AAC. Minimizing the intrusion of such distraction may, therefore, be of importance in AAC display design.
C1 [Wilkinson, Krista M.; O'Neill, Tara] Penn State Univ, University Pk, PA 16802 USA.
[Wilkinson, Krista M.; Mcllvane, William J.] Univ Massachusetts, Sch Med, Shriver Ctr, Amherst, MA 01003 USA.
RP Wilkinson, KM (reprint author), Penn State Univ, University Pk, PA 16802 USA.
EM kmw22@psu.edu
FU National Institute of Child Health and Human Development [HD P01 25995];
UMMS-Shriver Center [P30 HD 004147]; Hintz Family Endowed Chair in
Children's Communicative Competence
FX This research was supported by Project 2 of National Institute of Child
Health and Human Development Grant HD P01 25995 (awarded to the first
author), UMMS-Shriver Center Grant P30 HD 004147 (awarded to the third
author), and an award from the Hintz Family Endowed Chair in Children's
Communicative Competence (awarded to the first author). Thanks to all
the individuals who contributed their time and effort, including Kelly
McStravock, Chihui Yong, Kara Weasen, Maggie Kennedy, and Megan
Warrenfeltz (ISCAN analysis) and Hilary Lee, Amanda Lippert, and Jenn
Nauss (TOBii analysis). We thank the participants and their families and
the Families Interested in Research Studies (FIRSt) Families database at
The Pennsylvania State University.
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NR 45
TC 4
Z9 4
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD APR
PY 2014
VL 57
IS 2
BP 455
EP 466
DI 10.1044/2013_JSLHR-L-12-0159
PG 12
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4MM
UT WOS:000348195600016
PM 24129007
ER
PT J
AU Ellawadi, AB
Weismer, SE
AF Ellawadi, Allison Bean
Weismer, Susan Ellis
TI Assessing Gestures in Young Children With Autism Spectrum Disorder
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE assessment; autism; language; gestures
ID EARLY LANGUAGE-DEVELOPMENT; JOINT ATTENTION; COMMUNICATION;
INTERVENTION; DIAGNOSIS; TODDLERS; AGE
AB Purpose: The purpose of this study was to determine whether scoring of the gestures point, give, and show were correlated across measurement tools used to assess gesture production in children with an autism spectrum disorder (ASD).
Method: Seventy-eight children with ASD between the ages of 23 and 37 months participated. Correlational analyses were conducted to determine whether performance of 3 key gestures related to joint attention and behavior regulation (point, give, show) were correlated across 3 different measurement tools: the Autism Diagnostic Observation Schedule, the Early Social Communication Scale, and the MacArthur-Bates Communicative Development Inventory: Words and Gestures. To establish whether different measures were related at different points in development, children were subdivided into 2 groups based on their expressive language levels.
Results: The scoring of gesture performance was not entirely consistent across assessment methods. The score that a child received appeared to be influenced by theoretical perspective, gesture definition, and assessment methodology, as well as developmental level.
Conclusion: When assessing the gestures of children with ASD, clinicians should determine what aspects of gesture they are interested in profiling, gather data from multiple sources, and consider performance in light of the measurement tool.
C1 [Ellawadi, Allison Bean; Weismer, Susan Ellis] Ohio State Univ, Columbus, OH 43210 USA.
RP Ellawadi, AB (reprint author), Ohio State Univ, Columbus, OH 43210 USA.
EM ellawadi.1@osu.edu
FU National Institutes of Health [NIDCD R01 DC007223, T32 DC05359, NICHD
P30 HD03352]
FX This research was supported by the National Institutes of Health Grant
NIDCD R01 DC007223 and Training Grant T32 DC05359 (S. Ellis Weismer,
PI), as well as by a core grant to the Waisman Center, NICHD P30 HD03352
(M. Mailick, PI). We also wish to express our sincere thanks to the
children and parents who participated in this research.
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Wong VCN, 2010, J AUTISM DEV DISORD, V40, P677, DOI 10.1007/s10803-009-0916-z
NR 38
TC 0
Z9 1
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD APR
PY 2014
VL 57
IS 2
BP 524
EP 531
DI 10.1044/2013_JSLHR-L-12-0244
PG 8
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4MM
UT WOS:000348195600021
PM 24129012
ER
PT J
AU Bernier, R
Aaronson, B
Kresse, A
AF Bernier, Raphael
Aaronson, Benjamin
Kresse, Anna
TI EEG Mu Rhythm in Typical and Atypical Development
SO JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
LA English
DT Article
DE Medicine; Issue 86; Electroencephalography (EEG); mu rhythm; imitation;
autism spectrum disorder; social cognition; mirror neuron system
ID AUTISM SPECTRUM DISORDERS; HIGH-RESOLUTION EEG; FUNCTIONAL-SIGNIFICANCE;
CHILDREN; DESYNCHRONIZATION; PERCEPTION; MOVEMENT; INFANTS; SUPPRESSION;
ACTIVATION
AB Electroencephalography (EEG) is an effective, efficient, and noninvasive method of assessing and recording brain activity. Given the excellent temporal resolution, EEG can be used to examine the neural response related to specific behaviors, states, or external stimuli. An example of this utility is the assessment of the mirror neuron system (MNS) in humans through the examination of the EEG mu rhythm. The EEG mu rhythm, oscillatory activity in the 8-12 Hz frequency range recorded from centrally located electrodes, is suppressed when an individual executes, or simply observes, goal directed actions. As such, it has been proposed to reflect activity of the MNS. It has been theorized that dysfunction in the mirror neuron system (MNS) plays a contributing role in the social deficits of autism spectrum disorder (ASD). The MNS can then be noninvasively examined in clinical populations by using EEG mu rhythm attenuation as an index for its activity. The described protocol provides an avenue to examine social cognitive functions theoretically linked to the MNS in individuals with typical and atypical development, such as ASD.
C1 [Bernier, Raphael; Aaronson, Benjamin; Kresse, Anna] Univ Washington, Dept Psychiat, Seattle, WA 98195 USA.
[Bernier, Raphael; Aaronson, Benjamin] Univ Washington, Dept Educ Psychol, Seattle, WA 98195 USA.
RP Bernier, R (reprint author), Univ Washington, Dept Psychiat, Seattle, WA 98195 USA.
EM rab2@u.washington.edu
FU Simons Foundation (SFARI) [89638]
FX This work was supported by a grant from the Simons Foundation (SFARI
#89638 to RB).
CR American Psychiatric Association APA, 2013, DIAGN STAT MAN MENT, V5th
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NR 40
TC 0
Z9 0
PU JOURNAL OF VISUALIZED EXPERIMENTS
PI CAMBRIDGE
PA 1 ALEWIFE CENTER, STE 200, CAMBRIDGE, MA 02140 USA
SN 1940-087X
J9 JOVE-J VIS EXP
JI J. Vis. Exp.
PD APR
PY 2014
IS 86
AR e5141
DI 10.3791/51412
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA CA0LK
UT WOS:000348609000059
ER
PT J
AU Kreis, P
Leondaritis, G
Lieberam, I
Eickholt, BJ
AF Kreis, Patricia
Leondaritis, George
Lieberam, Ivo
Eickholt, Britta J.
TI Subcellular targeting and dynamic regulation of PTEN: implications for
neuronal cells and neurological disorders
SO FRONTIERS IN MOLECULAR NEUROSCIENCE
LA English
DT Review
DE PTEN phosphohydrolase; neuronal morphology; synaptic transmission;
membranes; PI3K/AKT/mTOR
ID TUMOR-SUPPRESSOR PTEN; AUTISM SPECTRUM DISORDERS;
LHERMITTE-DUCLOS-DISEASE; GROWTH CONE COLLAPSE; LONG-TERM DEPRESSION;
TENSIN HOMOLOG; NUCLEAR PTEN; PHOSPHATASE-ACTIVITY; PLASMA-MEMBRANE;
IN-VIVO
AB PTEN is a lipid and protein phosphatase that regulates a diverse range of cellular mechanisms. PTEN is mainly present in the cytosol and transiently associates with the plasma membrane to dephosphorylate P1(3,4,5)P3, thereby antagonizing the P13-Kinase signaling pathway. Recently, PTEN has been shown to associate also with organelles such as the endoplasmic reticulum (ER), the mitochondria, or the nucleus, and to be secreted outside of the cell. In addition, PTEN dynamically localizes to specialized sub-cellular compartments such as the neuronal growth cone or dendritic spines. The diverse localizations of PTEN imply a tight temporal and spatial regulation, orchestrated by mechanisms such as posttranslational modifications, formation of distinct protein-protein interactions, or the activation/recruitment of PTEN downstream of external cues. The regulation of PTEN function is thus not only important at the enzymatic activity level, but is also associated to its spatial distribution. In this review we will summarize (i) recent findings that highlight mechanisms controlling PTEN movement and sub-cellular localization, and (ii) current understanding of how PTEN localization is achieved by mechanisms controlling posttranslational modification, by association with binding partners and by PTEN structural or activity requirements. Finally, we will discuss the possible roles of compartmentalized PTEN in developing and mature neurons in health and disease.
C1 [Kreis, Patricia; Leondaritis, George; Lieberam, Ivo; Eickholt, Britta J.] Kings Coll London, MRC Ctr Dev Neurobiol, London WC2R 2LS, England.
[Leondaritis, George; Eickholt, Britta J.] Charite, Inst Biochem, D-10117 Berlin, Germany.
RP Eickholt, BJ (reprint author), Charite, Inst Biochem, Charitepl 1, D-10117 Berlin, Germany.
EM britta.eickholt@charite.de
FU Biotechnology and Biological Science Research Council [BB/I022392/1]
FX This work was funded by a grant of the Biotechnology and Biological
Science Research Council to Britta J. Eickholt and Ivo Lieberam
(BB/I022392/1). We thank members of the Britta J. Eickholt lab for
helpful discussions.
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NR 168
TC 8
Z9 8
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5099
J9 FRONT MOL NEUROSCI
JI Front. Molec. Neurosci.
PD APR 1
PY 2014
VL 7
AR 23
DI 10.3389/fnmol.2014.00023
PG 19
WC Neurosciences
SC Neurosciences & Neurology
GA AZ0YK
UT WOS:000347967600001
PM 24744697
ER
PT J
AU Chalkia, D
Derbeneva, O
Lvova, M
Lakatos, A
Leipzig, J
Hadley, D
Hakonarson, H
Wallace, D
AF Chalkia, Dimitra
Derbeneva, Olga
Lvova, Maria
Lakatos, Anita
Leipzig, Jeremy
Hadley, Dexter
Hakonarson, Hakon
Wallace, Douglas
TI A mitochondrial bioenergetic hypothesis for autism spectrum disorder
SO FASEB JOURNAL
LA English
DT Meeting Abstract
CT Experimental Biology Meeting
CY APR 26-30, 2014
CL San Diego, CA
SP Cenveo, LI COR, Wiley, Mead Johnson Pediat Nutr Inst, IPRECIO, F1000 Res, Amer Assoc Anatomists, Amer Physiol Soc, Amer Soc Biochem & Mol Biol, Amer Soc Investigat Pathol, Amer Soc Nutr, Amer Soc Pharmacol & Expt Therapeut
C1 [Hadley, Dexter; Hakonarson, Hakon] Childrens Hosp Philadelphia, Div Genet, Ctr Appl Genom, Philadelphia, PA 19104 USA.
[Leipzig, Jeremy] Childrens Hosp Philadelphia, Res Inst, Ctr Biomed Informat, Philadelphia, PA 19104 USA.
[Chalkia, Dimitra; Derbeneva, Olga; Lvova, Maria; Wallace, Douglas] Childrens Hosp Philadelphia, Res Inst, Ctr Mitochondrial & Epigen Med, Philadelphia, PA 19104 USA.
[Wallace, Douglas] Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA USA.
[Lakatos, Anita] Univ Calif Irvine, Dept Psychiat & Human Behav, Irvine, CA 92717 USA.
NR 0
TC 0
Z9 0
PU FEDERATION AMER SOC EXP BIOL
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0892-6638
EI 1530-6860
J9 FASEB J
JI Faseb J.
PD APR
PY 2014
VL 28
IS 1
SU S
MA 570.3
PG 1
WC Biochemistry & Molecular Biology; Biology; Cell Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics; Cell Biology
GA AX0MP
UT WOS:000346646701437
ER
PT J
AU Hamlin, J
Crook, T
James, J
Gonzales, D
Hakkak, R
AF Hamlin, JoAnna
Crook, Tina
James, Jill
Gonzales, Dana
Hakkak, Reza
TI Correlation between dietary intake and plasma levels of choline and
betaine in children with autism
SO FASEB JOURNAL
LA English
DT Meeting Abstract
CT Experimental Biology Meeting
CY APR 26-30, 2014
CL San Diego, CA
SP Cenveo, LI COR, Wiley, Mead Johnson Pediat Nutr Inst, IPRECIO, F1000 Res, Amer Assoc Anatomists, Amer Physiol Soc, Amer Soc Biochem & Mol Biol, Amer Soc Investigat Pathol, Amer Soc Nutr, Amer Soc Pharmacol & Expt Therapeut
C1 [Hamlin, JoAnna; Crook, Tina; James, Jill; Gonzales, Dana; Hakkak, Reza] UAMS, Little Rock, AR USA.
NR 0
TC 0
Z9 0
PU FEDERATION AMER SOC EXP BIOL
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0892-6638
EI 1530-6860
J9 FASEB J
JI Faseb J.
PD APR
PY 2014
VL 28
IS 1
SU S
MA 827.1
PG 2
WC Biochemistry & Molecular Biology; Biology; Cell Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics; Cell Biology
GA AX0MP
UT WOS:000346646705010
ER
PT J
AU Martinez, L
Tejada-Simon, M
AF Martinez, Luis
Tejada-Simon, Maria
TI Targeting hyperactive Rho GTPase regulatory proteins in autism
SO FASEB JOURNAL
LA English
DT Meeting Abstract
CT Experimental Biology Meeting
CY APR 26-30, 2014
CL San Diego, CA
SP Cenveo, LI COR, Wiley, Mead Johnson Pediat Nutr Inst, IPRECIO, F1000 Res, Amer Assoc Anatomists, Amer Physiol Soc, Amer Soc Biochem & Mol Biol, Amer Soc Investigat Pathol, Amer Soc Nutr, Amer Soc Pharmacol & Expt Therapeut
C1 [Martinez, Luis; Tejada-Simon, Maria] Univ Houston, Houston, TX USA.
NR 0
TC 0
Z9 0
PU FEDERATION AMER SOC EXP BIOL
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0892-6638
EI 1530-6860
J9 FASEB J
JI Faseb J.
PD APR
PY 2014
VL 28
IS 1
SU S
MA 845.7
PG 2
WC Biochemistry & Molecular Biology; Biology; Cell Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics; Cell Biology
GA AX0MP
UT WOS:000346646705149
ER
PT J
AU Penn, A
Lai, T
Carver, L
Taylor, S
Schmid-Schonbein, G
Dobkins, K
AF Penn, Alexander
Lai, Tiffany
Carver, Leslie
Taylor, Sharon
Schmid-Schoenbein, Geert
Dobkins, Karen
TI Intestinal permeability as measured by lactulose mannitol ratio
continues to decrease during infancy after 3 months of age for both
control infants and infants at high risk for autism spectrum disorders
SO FASEB JOURNAL
LA English
DT Meeting Abstract
C1 [Penn, Alexander; Lai, Tiffany; Carver, Leslie; Taylor, Sharon; Schmid-Schoenbein, Geert; Dobkins, Karen] Univ Calif San Diego, La Jolla, CA USA.
NR 0
TC 0
Z9 0
PU FEDERATION AMER SOC EXP BIOL
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0892-6638
EI 1530-6860
J9 FASEB J
JI Faseb J.
PD APR
PY 2014
VL 28
IS 1
SU S
MA LB751
PG 1
WC Biochemistry & Molecular Biology; Biology; Cell Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics; Cell Biology
GA AX0OG
UT WOS:000346651005128
ER
PT J
AU Sealey, L
Bagasra, O
AF Sealey, Leanna
Bagasra, Omar
TI The male gender bias in autism may be due to preferential depletions of
oxytocin and arginine-vasopressin receptors positive neurons exposed to
certain fragrances during fetal development
SO FASEB JOURNAL
LA English
DT Meeting Abstract
C1 [Sealey, Leanna; Bagasra, Omar] Claflin Univ, Orangeburg, SC USA.
NR 0
TC 0
Z9 0
PU FEDERATION AMER SOC EXP BIOL
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3998 USA
SN 0892-6638
EI 1530-6860
J9 FASEB J
JI Faseb J.
PD APR
PY 2014
VL 28
IS 1
SU S
MA LB502
PG 2
WC Biochemistry & Molecular Biology; Biology; Cell Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics; Cell Biology
GA AX0OG
UT WOS:000346651004443
ER
PT J
AU Cavalari, RNS
DuBard, M
Luiselli, JK
AF Cavalari, Rachel N. S.
DuBard, Melanie
Luiselli, James K.
TI Simplified Habit Reversal and Treatment Fading for Chronic Skin Picking
in an Adolescent With Autism
SO CLINICAL CASE STUDIES
LA English
DT Article
DE skin picking; simplified habit reversal; competing response training;
differential reinforcement; autism
ID SELF-INJURIOUS-BEHAVIOR; POPULATION; PREVALENCE
AB We evaluated the effects of simplified habit reversal (HR) that combined competing response training and differential reinforcement on skin picking by an adolescent female with autism attending a classroom at a specialized school. The competing response training procedure allowed her to manipulate preferred sensory stimuli independently and when instructed by classroom staff. Differential reinforcement included praise and tokens that she received following intervals without skin picking and when she performed competing response training. Compared with a baseline phase, skin picking decreased with simplified HR and during a subsequent phase when treatment was faded by implementing differential reinforcement without competing response training. We discuss the clinical implications of these findings.
C1 [Cavalari, Rachel N. S.; Luiselli, James K.] May Inst, Randolph, MA USA.
[DuBard, Melanie] May Inst, Educ Serv, Randolph, MA USA.
[DuBard, Melanie] May Inst, Clin Serv, Randolph, MA USA.
[Luiselli, James K.] May Inst, Training Predoctoral Internship Program Clin Psyc, Randolph, MA USA.
[Luiselli, James K.] May Inst, Training Postdoctoral Fellowship Program Clin Psy, Randolph, MA USA.
[Cavalari, Rachel N. S.] SUNY Binghamton, Dept Psychol, Binghamton, NY 13902 USA.
RP Cavalari, RNS (reprint author), SUNY Binghamton, Dept Psychol, POB 6000, Binghamton, NY 13902 USA.
EM rstraub1@binghamton.edu
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NR 29
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1534-6501
EI 1552-3802
J9 CLIN CASE STUD
JI Clin. Case Stud.
PD APR
PY 2014
VL 13
IS 2
BP 190
EP 198
DI 10.1177/1534650113510348
PG 9
WC Psychology, Clinical; Psychiatry
SC Psychology; Psychiatry
GA AW9OY
UT WOS:000346588100006
ER
PT J
AU Fernandes, FDM
Amato, CAH
Defense-Netrval, DA
Molini-Avejonas, DR
AF Miranda Fernandes, Fernanda Dreux
Amato, Cibelle A. H.
Defense-Netrval, Danielle A.
Molini-Avejonas, Daniela R.
TI Speech-Language Intervention for Children With Autism Spectrum Disorder
in Brazil
SO TOPICS IN LANGUAGE DISORDERS
LA English
DT Article
DE autistic disorder; child language; language and hearing sciences; public
policies; speech; Unified Health System
AB Brazil has more than 200 million inhabitants living in an area of more than 8.5 million km(2) (Ministerio da Saude, Brasil, 2013a,b). Granting access to health and educational services for populations in such different environments clearly demands different actions and resources. Official policies regarding rehabilitation services and education to children and adolescents with autism spectrum disorders (ASDs) are being gradually defined and implemented. This article aims to present an overview of the Brazilian health system that considers health as a universal right and a state's duty. Some of the strategies created to provide services to persons with different needs living in different environments are outlined. Specifically in what refers to persons with ASD, there are laws, bills of rights, and guidelines, but their implementation is gradual and uneven. More developed regions provide more comprehensive support to these persons and their families, but some initiatives of outreach are being implemented. Speech-language pathology services are integrated to the health system and present their own challenges. Undergraduate programs for speech-language pathology include ASD as part of the mandatory training, and there are postgraduate studies in the field. Some challenges are being met by several initiatives by different groups as parents, scientific associations, and universities. Issues such as tests and protocols that can be used to Portuguese-speaking children and the identification of efficient methods that can be applied in different situations and orientation to parents and families have been object of research for some decades. There are still many challenges that must be addressed to provide adequate health and educational services to children with ASD and their families in Brazil.
C1 [Miranda Fernandes, Fernanda Dreux; Defense-Netrval, Danielle A.; Molini-Avejonas, Daniela R.] Univ Sao Paulo FMUSP, Sch Med, Sao Paulo, Brazil.
[Amato, Cibelle A. H.] FMUSP, Autism Spectrum Disorders Res Lab LIF DEA, Sao Paulo, Brazil.
RP Fernandes, FDM (reprint author), Univ Sao Paulo, Fac Med, Dept Fisioterapia Fonoaudiol & Terapia Ocupac, Rua Cipotanea 51, BR-05360 Sao Paulo, Brazil.
EM fernandadreux@usp.br
CR ABC da Saude, 2013, AUTISMO
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Autismo e Realidade, 2013, SOBRE O AUTISMO
Balestro J. I., 2012, REVISTA DA SOCIEDADE, V17, P279
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Ministerio da Saude Brasil, 2013, LINHA DE CUIDADO PAR
Ministerio Publico do Estado de Sao Paulo, 2001, AUTISMOACAO CIVIL PU
Molini-Avejonas D. R., 2003, PRO-FONO REV ATUAL C, V15, P149
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NR 56
TC 2
Z9 2
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0271-8294
EI 1550-3259
J9 TOP LANG DISORD
JI Top. Lang. Disord.
PD APR-JUN
PY 2014
VL 34
IS 2
BP 155
EP 167
DI 10.1097/TLD.0000000000000011
PG 13
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AT6CU
UT WOS:000345027500006
ER
PT J
AU Lee, YJ
Oh, SH
Park, C
Hong, MH
Lee, AR
Yoo, HJ
Shin, CY
Cheon, KA
Bahn, GH
AF Lee, Yeon Jung
Oh, Soo Hyun
Park, Chanmin
Hong, Minha
Lee, Ah Rah
Yoo, Hee Jeong
Shin, Chan Young
Cheon, Keun-Ah
Bahn, Geon Ho
TI Advanced Pharmacotherapy Evidenced by Pathogenesis of Autism Spectrum
Disorder
SO CLINICAL PSYCHOPHARMACOLOGY AND NEUROSCIENCE
LA English
DT Review
DE Child development disorders; pervasive; Drug therapy; Etiology
ID PERVASIVE DEVELOPMENTAL DISORDERS; OXYTOCIN-RECEPTOR GENE; OPEN-LABEL
TRIAL; VITAMIN-D; ALTERNATIVE MEDICINE; N-ACETYLCYSTEINE;
NEURODEGENERATIVE DISEASES; NEURONAL DIFFERENTIATION;
TUBEROUS-SCLEROSIS; SOCIAL-INTERACTION
AB In clinical practice, pharmacological treatment is mostly focused on behavioral symptoms in everyday life. Nevertheless, persistent effort continues to develop medication for causal treatment. Recent changes in diagnostic criteria from Diagnostic and Statistical Manual of Mental Disorders, 4th edition, text revision (DSM-IV-TR) to DSM-5 would affect not only diagnosing approaches, but also therapeutic approaches. Because previous pervasive developmental disorders have been integrated into a single entity, the autism spectrum disorder (ASD), we have to prepare for what medications are valuable for the ASD. In this article, we reviewed the following etiological treatment: acetylcholine and glutamate related medicine; amino acid medicine such as secret in, endogenous opioid, and oxytocin; complementary and alternative medicine such as chelating agents, vitamins, and omega-3; promising drugs related to the scope of pharmacogenetics currently under study.
C1 [Lee, Yeon Jung; Park, Chanmin; Bahn, Geon Ho] Kyung Hee Univ, Sch Med, Dept Psychiat, Seoul 130702, South Korea.
[Oh, Soo Hyun] Ewha Womans Univ, Dept Life Sci, Seoul, South Korea.
[Lee, Ah Rah] Kyung Hee Univ, Sch Med, Seoul 130702, South Korea.
[Yoo, Hee Jeong] Seoul Natl Univ, Bundang Hosp, Dept Neuropsychiat, Songnam, South Korea.
[Shin, Chan Young] Konkuk Univ, Sch Med, Dept Pharmacol, Seoul, South Korea.
[Cheon, Keun-Ah] Yonsei Univ, Coll Med, Dept Psychiat, Seoul, South Korea.
[Hong, Minha] Dankook Univ, Coll Med, Dept Psychiat, Chungnam, South Korea.
RP Bahn, GH (reprint author), Kyung Hee Univ, Sch Med, Dept Psychiat, 23 Kyungheedae Ro, Seoul 130702, South Korea.
EM mompeian@khu.ac.kr
FU Korean Health Technology R&D Project, Ministry of Health and Welfare,
Republic of Korea [A120029]
FX This work was supported by a grant of the Korean Health Technology R&D
Project, Ministry of Health and Welfare, Republic of Korea (No.
A120029).
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NR 110
TC 1
Z9 1
PU KOREAN COLL NEUROPSYCHOPHARMACOLOGY
PI SEOUL
PA RN 1003 OFFICETEL 40, 63-RO YEONGDEUNGPO-GU, SEOUL, 150-731, SOUTH KOREA
SN 1738-1088
EI 2093-4327
J9 CLIN PSYCHOPHARM NEU
JI Clin. Psychopharmacol. Neurosci.
PD APR
PY 2014
VL 12
IS 1
BP 19
EP 30
DI 10.9758/cpn.2014.12.1.19
PG 12
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA AQ5NJ
UT WOS:000342855600003
PM 24851117
ER
PT J
AU Bone, D
Lee, CC
Narayanan, S
AF Bone, Daniel
Lee, Chi-Chun
Narayanan, Shrikanth
TI Robust Unsupervised Arousal Rating: A Rule-Based Framework with
Knowledge-Inspired Vocal Features
SO IEEE TRANSACTIONS ON AFFECTIVE COMPUTING
LA English
DT Article
DE Arousal; activation; rule-based rating; knowledge-inspired features;
cross-corpora classification; continuous affect tracking
ID ACOUSTIC EMOTION RECOGNITION; ACTIVATION; SPEECH; MODEL; PERCEPTION;
EXPRESSION; RESPONSES; AUTISM; SCALES
AB Studies in classifying affect from vocal cues have produced exceptional within-corpus results, especially for arousal (activation or stress); yet cross-corpora affect recognition has only recently garnered attention. An essential requirement of many behavioral studies is affect scoring that generalizes across different social contexts and data conditions. We present a robust, unsupervised (rule-based) method for providing a scale-continuous, bounded arousal rating operating on the vocal signal. The method incorporates just three knowledge-inspired features chosen based on empirical and theoretical evidence. It constructs a speaker's baseline model for each feature separately, and then computes single-feature arousal scores. Lastly, it advantageously fuses the single-feature arousal scores into a final rating without knowledge of the true affect. The baseline data is preferably labeled as neutral, but some initial evidence is provided to suggest that no labeled data is required in certain cases. The proposed method is compared to a state-of-the-art supervised technique which employs a high-dimensional feature set. The proposed framework achieves highly-competitive performance with additional benefits. The measure is interpretable, scale-continuous as opposed to discrete, and can operate without any affective labeling. An accompanying Matlab tool is made available with the paper.
C1 [Bone, Daniel; Narayanan, Shrikanth] Univ So Calif, Dept Elect Engn, Los Angeles, CA 90089 USA.
[Lee, Chi-Chun] Natl Tsing Hua Univ, Dept Elect Engn, Hsinchu, Taiwan.
RP Bone, D (reprint author), Univ So Calif, Dept Elect Engn, Los Angeles, CA 90089 USA.
EM dbone@usc.edu; cclee@ee.nthu.edu.tw; shri@sipi.usc.edu
FU NSF; NIH; Achievement Rewards for College Scientists Foundation
FX The authors would like to thank the researchers who made their databases
available for our study. This work was supported by funds from NSF and
NIH. The first author was also supported by the Achievement Rewards for
College Scientists Foundation.
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PI PISCATAWAY
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SN 1949-3045
J9 IEEE T AFFECT COMPUT
JI IEEE Trans. Affect. Comput.
PD APR-JUN
PY 2014
VL 5
IS 2
BP 201
EP 213
DI 10.1109/TAFFC.2014.2326393
PG 13
WC Computer Science, Artificial Intelligence; Computer Science, Cybernetics
SC Computer Science
GA AN2PQ
UT WOS:000340428200009
ER
PT J
AU Hashemian, M
Pourghassem, H
AF Hashemian, M.
Pourghassem, H.
TI Diagnosing Autism Spectrum Disorders Based on EEG Analysis: a Survey
SO NEUROPHYSIOLOGY
LA English
DT Article
DE autism spectrum disorders (ASDs); EEG; feature extraction;
classification; ASD diagnosis algorithms
ID BETA-SYNCHRONIZATION; BRAIN OSCILLATIONS; MU-RHYTHMS; GAMMA-BAND;
MEMORY; RESPONSES; MOVEMENT; ALPHA; ELECTROENCEPHALOGRAPHY; PREVALENCE
AB Autism spectrum disorders (ASDs) are pervasive neurodevelopmental conditions characterized by impairments in reciprocal social interactions, communication skills, and stereotyped behavior. Since EEG recording and analysis is one of the fundamental tools in diagnosing and identifying disorders in neurophysiology, researchers strive to use the EEG signals for diagnosing individuals with ASD. We found that studies on ASD diagnosis using EEG techniques could be divided into two groups in which where analysis was based on either comparison techniques or pattern recognition techniques. In this paper, we try to explain these two sets of algorithms along with their applied methods and results. Lastly, evaluation measures of diagnosis algorithms are discussed.
C1 [Hashemian, M.; Pourghassem, H.] Islamic Azad Univ, Najafabad Branch, Dept Elect Engn, Esfahan, Iran.
RP Hashemian, M (reprint author), Islamic Azad Univ, Najafabad Branch, Dept Elect Engn, Esfahan, Iran.
EM h_pourghasem@iaun.ac.ir
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NR 76
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0090-2977
EI 1573-9007
J9 NEUROPHYSIOLOGY+
JI Neurophysiology
PD APR
PY 2014
VL 46
IS 2
BP 183
EP 195
DI 10.1007/s11062-014-9427-4
PG 13
WC Neurosciences; Physiology
SC Neurosciences & Neurology; Physiology
GA AL3SV
UT WOS:000339050300014
ER
PT J
AU Lepoutre, T
AF Lepoutre, Thomas
TI On the ambiguity of negativism
SO EVOLUTION PSYCHIATRIQUE
LA French
DT Article
DE Negativism; Schizophrenia; Semiology; Autism; Symptom; Psychical
process; Clinical practice; Freud S; Theoretical study
AB This paper is a clinical contribution to the problem of schizophrenic negativism. The author tries to highlight the ambiguity of this symptom, because both its semiological acceptation and his importance in schizophrenic symptomatology are not properly qualified. The study of its clinical manifestations leads to call into question both its accepted meaning and its interpretation. While most authors seem to agree that negativistic behavior is an effect of the withdrawal of object love and seems therefore to reinforce the autistic position of schizophrenic patient, the author underlines what is left unexplained by such theories: the common alternation between states of negativism and states of complete submission to an all-powerful object. This frequent reversal of the sign of the object relation shows that negativism could be precisely understood as an attempt to re-establish an object cathexis, that is to say, an attempt to heal. (C) 2012 Elsevier Masson SAS. All rights reserved.
C1 [Lepoutre, Thomas] Univ Paris Diderot, CRPMS, Sorbonne Paris Cite, EA 3522, F-75205 Paris 13, France.
[Lepoutre, Thomas] Etab Publ Sante Erasme, F-92161 Antony, France.
RP Lepoutre, T (reprint author), Univ Paris Diderot, CRPMS, Sorbonne Paris Cite, 5 Rue Thomas Mann, F-75205 Paris 13, France.
EM thomaslepoutre@free.fr
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NR 47
TC 0
Z9 0
PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
PI PARIS
PA 23 RUE LINOIS, 75724 PARIS, FRANCE
SN 0014-3855
EI 1769-6674
J9 EVOL PSYCHIATR
JI Evol. Psychiatr.
PD APR-JUN
PY 2014
VL 79
IS 2
BP 321
EP 344
DI 10.1016/j.evopsy.2012.09.008
PG 24
WC Psychiatry
SC Psychiatry
GA AJ6BZ
UT WOS:000337776000010
ER
PT J
AU Vannucchi, G
Masi, G
Toni, C
Dell'Osso, L
Marazziti, D
Perugi, G
AF Vannucchi, Giulia
Masi, Gabriele
Toni, Cristina
Dell'Osso, Liliana
Marazziti, Donatella
Perugi, Giulio
TI Clinical features, developmental course, and psychiatric comorbidity of
adult autism spectrum disorders
SO CNS SPECTRUMS
LA English
DT Review
DE Adult autistic spectrum disorders; mood disorders; personality
disorders; psychiatric comorbidity; schizophrenia
ID HIGH-FUNCTIONING AUTISM; OBSESSIVE-COMPULSIVE DISORDER;
ASPERGER-SYNDROME; REPETITIVE BEHAVIORS; BIPOLAR DISORDER;
FAMILY-HISTORY; PERSONALITY-DISORDER; MULTIPLE-INCIDENCE;
INFANTILE-AUTISM; YOUNG-ADULTS
AB Autism spectrum disorders (ASDs) include a heterogeneous group of neurodevelopmental disorders with early onset in childhood. ASDs should be considered lifelong clinical entities, although there is a certain variability in developmental trajectories, and therefore should be considered of great interest also for adulthood psychiatrists. A few studies have been carried out to explore the clinical picture and course development of these disorders during adulthood, or their relationship with other mental disorders. Indeed, ASDs often share overlapping features with other disorders, such as schizophrenia and obsessive-compulsive, mood, and personality disorders, and as a result misdiagnoses often occur. The aim of this review is to summarize the available literature on ASDs in adulthood with a specific focus on the clinical picture, course, and psychiatric comorbidity. It is proposed that a careful diagnostic screening for ASDs in adults would contribute to clarifying the relationship with comorbid psychiatric disorders, while improving the possibility of treatment and outcome of such conditions.
C1 [Vannucchi, Giulia; Dell'Osso, Liliana; Marazziti, Donatella; Perugi, Giulio] Univ Pisa, Psychiat Unit, Dept Clin & Expt Med, I-56100 Pisa, Italy.
[Masi, Gabriele] IRCCS Stella Maris, Sci Inst Child Neurol & Psychiat, Pisa, Italy.
[Toni, Cristina; Perugi, Giulio] Inst Behav Sci G De Lisio, Pisa, Italy.
RP Perugi, G (reprint author), Univ Pisa, Clin Psichiatr, Via Roma 67, I-56100 Pisa, Italy.
EM giulio.perugi@med.unipi.it
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NR 84
TC 4
Z9 4
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 1092-8529
EI 2165-6509
J9 CNS SPECTRUMS
JI CNS Spectr.
PD APR
PY 2014
VL 19
IS 2
BP 157
EP 164
DI 10.1017/S1092852913000941
PG 8
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AJ5SM
UT WOS:000337748000008
PM 24352005
ER
PT J
AU Koike, S
Bundo, M
Iwamoto, K
Suga, M
Kuwabara, H
Ohashi, Y
Shinoda, K
Takano, Y
Iwashiro, N
Satomura, Y
Nagai, T
Natsubori, T
Tada, M
Yamasue, H
Kasai, K
AF Koike, S.
Bundo, M.
Iwamoto, K.
Suga, M.
Kuwabara, H.
Ohashi, Y.
Shinoda, K.
Takano, Y.
Iwashiro, N.
Satomura, Y.
Nagai, T.
Natsubori, T.
Tada, M.
Yamasue, H.
Kasai, K.
TI A snapshot of plasma metabolites in first-episode schizophrenia: a
capillary electrophoresis time-of-flight mass spectrometry study
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; CREATINE-KINASE LEVELS;
METHYLENETETRAHYDROFOLATE REDUCTASE; EARLY INTERVENTION;
PERIPHERAL-BLOOD; AMINO-ACIDS; PSYCHOSIS; DISEASE; SERUM; HOMOCYSTEINE
AB Few biomarkers have been known that can easily measure clinical conditions in mental illnesses such as schizophrenia. Capillary electrophoresis time-of-flight mass spectrometry (CE-TOFMS) is a new method that can measure ionized and low-molecular-weight metabolites. To explore global metabolomic alterations that characterize the onset of schizophrenia and identify biomarkers, we profiled the relative and absolute concentrations of the plasma metabolites from 30 patients with first-episode schizophrenia (FESZ, four drug-naive samples), 38 healthy controls and 15 individuals with autism spectrum disorders using CE-TOFMS. Five metabolites had robust changes (increased creatine and decreased betaine, nonanoic acid, benzoic acid and perillic acid) in two independent sample sets. Altered levels of these metabolites are consistent with well-known hypotheses regarding abnormalities of the homocysteine metabolism, creatine kinase-emia and oxidative stress. Although it should be considered that most patients with FESZ received medication, these metabolites are candidate biomarkers to improve the determination of diagnosis, severity and clinical stages, especially for FESZ.
C1 [Koike, S.; Suga, M.; Kuwabara, H.; Takano, Y.; Iwashiro, N.; Satomura, Y.; Nagai, T.; Natsubori, T.; Tada, M.; Yamasue, H.; Kasai, K.] Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Tokyo 1138655, Japan.
[Koike, S.] Univ Tokyo, Div Counseling & Support, Tokyo 1138655, Japan.
[Bundo, M.; Iwamoto, K.] Univ Tokyo, Grad Sch Med, Dept Mol Psychiat, Tokyo 1138655, Japan.
[Kuwabara, H.] Univ Tokyo, Grad Sch Med, Dept Child Neuropsychiat, Tokyo 1138655, Japan.
[Ohashi, Y.; Shinoda, K.] Human Metabolome Technol, Tsuruoka, Yamagata, Japan.
[Yamasue, H.] Japan Sci & Technol Agcy, CREST, Tokyo, Japan.
[Kasai, K.] Japan Sci & Technol Agcy, NBDC, Tokyo, Japan.
RP Kasai, K (reprint author), Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Bunkyo Ku, 7-3-1 Hongo, Tokyo 1138655, Japan.
EM kasaik-tky@umin.net
FU Ministry of Health, Labour and Welfare (Health and Labour Sciences
Research Grants); Research on Psychiatric and Neurological Diseases and
Mental Health [H22seishin-ippan-015]; Health and Labour Science Research
Grant for Comprehensive Research on Disability Health and Welfare
[H23-seishin-ippan-002]; JSPS/MEXT [22791108, 24791200, 21249064];
Scientific Research on Innovative Areas (Comprehensive Brain Science
Network and Adolescent Mind & Self-Regulation [23118001, 23118004];
Japan Health Sciences Foundation
FX We thank Fumiko Sunaga for substantial support in sample management, and
Chie Shimojyo, Aki Takei, Eriko Ichikawa, and Aya Kikutugi for
substantial support in clinical data assessment and management. This
study was supported by grants from the Ministry of Health, Labour and
Welfare (Health and Labour Sciences Research Grants, Research on
Psychiatric and Neurological Diseases and Mental Health
H22seishin-ippan-015 to KK and Health and Labour Science Research Grant
for Comprehensive Research on Disability Health and Welfare
H23-seishin-ippan-002 to HY) and from the JSPS/MEXT (No. 22791108 &
24791200 to MS, and No. 21249064 & Grant-in-Aid for Scientific Research
on Innovative Areas (Comprehensive Brain Science Network and Adolescent
Mind & Self-Regulation (23118001 & 23118004)) to KK), and by grant from
Japan Health Sciences Foundation (publicprivate sector joint research on
publicly essential drugs to KI). A portion of this study was also the
result of a project entitled 'Development of biomarker candidates for
social behavior' carried out under the Strategic Research Program for
Brain Sciences by the MEXT.
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NR 60
TC 3
Z9 3
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD APR
PY 2014
VL 4
AR e379
DI 10.1038/tp.2014.19
PG 8
WC Psychiatry
SC Psychiatry
GA AJ2RV
UT WOS:000337509000004
PM 24713860
ER
PT J
AU Rose, S
Frye, RE
Slattery, J
Wynne, R
Tippett, M
Melnyk, S
James, SJ
AF Rose, S.
Frye, R. E.
Slattery, J.
Wynne, R.
Tippett, M.
Melnyk, S.
James, S. J.
TI Oxidative stress induces mitochondrial dysfunction in a subset of
autistic lymphoblastoid cell lines
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID NECROSIS-FACTOR-ALPHA; SPARE RESPIRATORY CAPACITY; N-ACETYLCYSTEINE;
COMPLEX-I; PARKINSONS-DISEASE; ALZHEIMERS-DISEASE; METHYL MERCURY;
CYTOCHROME-C; DOUBLE-BLIND; APOPTOSIS
AB There is an increasing recognition that mitochondrial dysfunction is associated with autism spectrum disorders. However, little attention has been given to the etiology of mitochondrial dysfunction and how mitochondrial abnormalities might interact with other physiological disturbances such as oxidative stress. Reserve capacity is a measure of the ability of the mitochondria to respond to physiological stress. In this study, we demonstrate, for the first time, that lymphoblastoid cell lines (LCLs) derived from children with autistic disorder (AD) have an abnormal mitochondrial reserve capacity before and after exposure to reactive oxygen species (ROS). Ten (44%) of 22 AD LCLs exhibited abnormally high reserve capacity at baseline and a sharp depletion of reserve capacity when challenged with ROS. This depletion of reserve capacity was found to be directly related to an atypical simultaneous increase in both proton-leak respiration and adenosine triphosphate-linked respiration in response to increased ROS in this AD LCL subgroup. In this AD LCL subgroup, 48-hour pretreatment with N-acetylcysteine, a glutathione precursor, prevented these abnormalities and improved glutathione metabolism, suggesting a role for altered glutathione metabolism associated with this type of mitochondrial dysfunction. The results of this study suggest that a significant subgroup of AD children may have alterations in mitochondrial function, which could render them more vulnerable to a pro-oxidant microenvironment as well as intrinsic and extrinsic sources of ROS such as immune activation and pro-oxidant environmental toxins. These findings are consistent with the notion that AD is caused by a combination of genetic and environmental factors.
C1 [Rose, S.; Frye, R. E.; Slattery, J.; Wynne, R.; Tippett, M.; Melnyk, S.; James, S. J.] Univ Arkansas Med Sci, Arkansas Childrens Hosp Res Inst, Dept Pediat, Little Rock, AR 72202 USA.
RP Frye, RE (reprint author), Univ Arkansas Med Sci, Arkansas Childrens Hosp Res Inst, Dept Pediat, Slot 512-41B,Room R4041,13 Childrens Way, Little Rock, AR 72202 USA.
EM REFrye@uams.edu
FU National Institute for Child Health and Development; Arkansas
Biosciences Institute; Jane Botsford Johnson Foundation
FX This research was funded by the National Institute for Child Health and
Development (SJJ), the Arkansas Biosciences Institute (REF, SJJ), and
the Jane Botsford Johnson Foundation (REF).
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NR 57
TC 4
Z9 4
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD APR
PY 2014
VL 4
AR e377
DI 10.1038/tp.2014.15
PG 8
WC Psychiatry
SC Psychiatry
GA AJ2RV
UT WOS:000337509000002
PM 24690598
ER
PT J
AU Sampino, S
Juszczak, GR
Zacchini, F
Swiergiel, AH
Modlinski, JA
Loi, P
Ptak, GE
AF Sampino, S.
Juszczak, G. R.
Zacchini, F.
Swiergiel, A. H.
Modlinski, J. A.
Loi, P.
Ptak, G. E.
TI Grand-paternal age and the development of autism-like symptoms in mice
progeny
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID DE-NOVO MUTATIONS; MOUSE MODEL; SPECTRUM DISORDERS; SOCIAL-BEHAVIOR;
MUTANT MICE; RISK; RATS; SCHIZOPHRENIA; RELEVANT; VOCALIZATIONS
AB Advanced paternal age (APA) contributes to the risk of autism spectrum disorders (ASDs) in children. In this study, we used a mouse model to investigate the effects of APA on behavioral features related to autistic syndromes (that is, social deficits, communication impairments and stereotypic/repetitive behaviors). We also examined whether such effects are transmitted across generations. To do this, males aged 15 months (APA) and 4 months (control) were bred with 4-month-old females, and the resulting offspring (F1) and their progeny (F2; conceived by 4-month-old parents) were tested for the presence and severity of ASD-like behaviors. Our results indicate that APA resulted in offspring that displayed distinctive symptoms of ASD. We found that both F1 conceived from old fathers and F2 derived from old grandfathers displayed increased ultrasound vocalization (USV) activity, decreased sociability, increased grooming activity and increased anxiety-like responses. Moreover, such abnormalities were partially transmitted to the second generation of mice, having APA grandfathers. In conclusion, our study suggests that the risk of ASD could develop over generations, consistent with heritable mutations and/or epigenetic alterations associated with APA.
C1 [Sampino, S.; Zacchini, F.; Loi, P.; Ptak, G. E.] Univ Teramo, Fac Vet Med, I-64100 Teramo, Italy.
[Sampino, S.; Juszczak, G. R.; Modlinski, J. A.; Ptak, G. E.] Polish Acad Sci, Inst Genet & Anim Breeding, Jastrzebiec, Poland.
[Swiergiel, A. H.] Univ Gdansk, Fac Biol, PL-80952 Gdansk, Poland.
[Swiergiel, A. H.] LSUHSC, Dept Pharmacol Toxicol & Neurosci, Shreveport, LA USA.
RP Ptak, GE (reprint author), Univ Teramo, Fac Vet Med, Pza Aldo Moro 45, I-64100 Teramo, Italy.
EM gptak@unite.it
FU European Research Council [210103]; FECUND [312097,
FP7-KBBE-2012.1.3-04]; MIUR/CNR; IGAB PAS project [S.III.1.3]; Programme
FIRB; GenHome [B81J12002520001]
FX This work was supported by the European Research Council
(FP7/2007-2013)/Programme IDEAS GA no. 210103 to GEP; Programme
FP7-KBBE-2012.1.3-04, GA no. 312097 Acronym: FECUND, to GEP; MIUR/CNR,
Programme FIRB. GA n. B81J12002520001 Acronym: GenHome, to PL. This
study was also partially financed by the IGAB PAS project (S.III.1.3).
The authors are participating in the COST action FA 1201 'Epiconcept'
Epigenetic and Periconception Environment.
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NR 61
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD APR
PY 2014
VL 4
AR e386
DI 10.1038/tp.2014.27
PG 7
WC Psychiatry
SC Psychiatry
GA AJ2RV
UT WOS:000337509000011
PM 24780920
ER
PT J
AU Rehg, JM
Rozga, A
Abowd, GD
Goodwin, MS
AF Rehg, James M.
Rozga, Agata
Abowd, Gregory D.
Goodwin, Matthew S.
TI Behavioral Imaging and Autism
SO IEEE PERVASIVE COMPUTING
LA English
DT Editorial Material
C1 [Rehg, James M.; Rozga, Agata; Abowd, Gregory D.] Georgia Inst Technol, Coll Comp, Atlanta, GA 30332 USA.
[Goodwin, Matthew S.] Northeastern Univ, Dept Hlth Sci, Boston, MA USA.
[Goodwin, Matthew S.] Northeastern Univ, Coll Comp & Informat Sci, Boston, MA USA.
RP Rehg, JM (reprint author), Georgia Inst Technol, Coll Comp, Atlanta, GA 30332 USA.
EM rehg@gatech.edu; agata@gatech.edu; abowd@gatech.edu; m.goodwin@neu.edu
CR Cordero J., 2006, CDC ICDL COLLABORATI
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NR 4
TC 1
Z9 1
PU IEEE COMPUTER SOC
PI LOS ALAMITOS
PA 10662 LOS VAQUEROS CIRCLE, PO BOX 3014, LOS ALAMITOS, CA 90720-1314 USA
SN 1536-1268
EI 1558-2590
J9 IEEE PERVAS COMPUT
JI IEEE Pervasive Comput.
PD APR-JUN
PY 2014
VL 13
IS 2
BP 84
EP 87
PG 4
WC Computer Science, Information Systems; Engineering, Electrical &
Electronic; Telecommunications
SC Computer Science; Engineering; Telecommunications
GA AI8FX
UT WOS:000337146300015
ER
PT J
AU Ikeda, Y
Okuzumi, H
Kokubun, M
AF Ikeda, Yoshifumi
Okuzumi, Hideyuki
Kokubun, Mitsuru
TI Inhibitory control in children with intellectual disabilities with and
without autism spectrum disorders in animal size tests
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE inhibition; executive function; executive dysfunction; cognitive
control; intellectual and developmental disabilities; Autistic
ID AGE-RELATED TRENDS; EXECUTIVE FUNCTIONS; WILLIAMS-SYNDROME;
INDIVIDUAL-DIFFERENCES; YOUNG-CHILDREN; DOWNS-SYNDROME; STROOP;
INTERFERENCE; INTELLIGENCE; ATTENTION
AB Objectives: Inhibitory control plays an important role in various aspects of child development. The aim of this study was to compare inhibitory control of children with intellectual disabilities (ID) of unknown etiology, children with ID and autism spectrum disorders (ASD), and typically developing (TD) children.
Methods: This study examined 41 children in three groups: 11 children with ID of unknown etiology, 9 children with ID and ASD, and 21 TD children who were matched for mental age. Two Stroop-like tasks were administered: the Real Animal Size Test and the Pictorial Animal Size Test. In these tests, participants are presented with pictures of animals (large animals such as an elephant, a giraffe, and a whale vs. small animals such as a frog, a bird, and a squirrel) printed as either big or small images that are mismatched with the animal's real size. Participants must decide the size of the animals (big vs. small) based either on the size in real life or the size of the picture, resisting interference of irrelevant sizes in real life or in a picture.
Results: Interference was greater in the Pictorial Animal Size Test for all groups. Interference was greater in children with ID of unknown etiology compared to TD children, whereas interference was comparable between children with ID and ASD and TD children.
Conclusion: Results of this study suggest that inhibitory control is unimpaired in children with ID and ASD but impaired in children with ID of unknown etiology, relative to mental-age matched TD children.
C1 [Ikeda, Yoshifumi; Okuzumi, Hideyuki; Kokubun, Mitsuru] Tokyo Gakugei Univ, Fac Educ, Tokyo 1848501, Japan.
RP Ikeda, Y (reprint author), Tokyo Gakugei Univ, Fac Educ, 4-1-1 Nukuikita, Tokyo 1848501, Japan.
EM r113001n@st.u-gakugei.ac.jp
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NR 55
TC 0
Z9 0
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 2047-3869
EI 2047-3877
J9 INT J DEV DISABIL
JI Int. J. Dev. Disabil.
PD APR
PY 2014
VL 60
IS 2
BP 80
EP 88
DI 10.1179/2047387713Y.0000000024
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AI7SW
UT WOS:000337099700003
ER
PT J
AU Ahmed-Husain, S
Dunsmuir, S
AF Ahmed-Husain, Sajda
Dunsmuir, Sandra
TI An evaluation of the effectiveness of Comic Strip Conversations in
promoting the inclusion of young people with autism spectrum disorder in
secondary schools
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Comic Strip Conversations; Autism Spectrum Disorder; intervention;
evaluation
ID QUANTITATIVE SYNTHESIS; ASPERGER-SYNDROME; SOCIAL STORIES; CHILDREN;
LONELINESS; STUDENTS; BEHAVIOR; SKILLS
AB Objectives: Comic Strip Conversations (CSCs; Gray 1994) can be used to improve the social skills of individuals on the autism spectrum as well as pupils with other learning and/or speech difficulties. This study aimed to evaluate this intervention to improve specific problematic target behaviours of eleven to fourteen year old pupils with Autism Spectrum Disorder (ASD), to ascertain whether or not including a written (visual) action plan or a discussion about actions (auditory action plan) would have an impact and to find out whether more effective action plans matched participants' visual and verbal skill profiles.
Methods: A total of eight participants ranging from eleven to fourteen years of age received the intervention in school. Cognitive assessments were conducted to assess verbal and non-verbal functioning. A multiple baseline design across behaviours was implemented. Structured observations were conducted in order to determine whether or not the CSC intervention had an impact on target behaviours.
Results: The percentage of data points exceeding the median (PEM) of the baseline phase and Tau-U analyses were calculated from the observational data. Combined with visual inspection of graphs, the intervention was found to be moderately to highly effective at reducing/improving target behaviours in seven out of eight participants.
Conclusion: Although there was no general association between the type of action plan (visual or verbal) and outcome, the more successful action plans included highly specified, unambiguous target behaviours, realistic and implementable strategies/solutions, regular reviews of the CSC and a mode of presentation that matched the participants' skill preferences.
C1 [Ahmed-Husain, Sajda] Civ Ctr, Hounslow Early Intervent Adults & Childrens Serv, Hounslow TW3 4DN, England.
[Dunsmuir, Sandra] UCL, Res Dept Clin Educ & Hlth Psychol, London WC1E 0AP, England.
RP Ahmed-Husain, S (reprint author), DECPsy, London, England.
EM sajdaruk@yahoo.co.uk
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NR 57
TC 0
Z9 0
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 2047-3869
EI 2047-3877
J9 INT J DEV DISABIL
JI Int. J. Dev. Disabil.
PD APR
PY 2014
VL 60
IS 2
BP 89
EP 108
DI 10.1179/2047387713Y.0000000025
PG 20
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AI7SW
UT WOS:000337099700004
ER
PT J
AU Bodur, S
Ceylan, MF
Iseri, E
Sener, S
Yucel, AA
AF Bodur, Sahin
Ceylan, Mehmet Fatih
Iseri, Elvan
Sener, Sahnur
Yucel, Aysegul Atak
TI Serum neopterin levels in patients with autism
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE autism; autism spectrum disorder; neopterin; cellular immunity
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; SPECTRUM DISORDER;
CONGENITAL-RUBELLA; CHILDHOOD AUTISM; OXIDATIVE STRESS;
INFANTILE-AUTISM; RATING-SCALES; RISK-FACTORS; CHILDREN; DISEASE
AB Objective: Autism is a chronic neurodevelopmental disorder with an aetiology that is not fully understood. Published findings have identified widespread changes in the immune systems of children with autism. The latest findings show that the pathophysiology of autism may be associated with cellular immunity. Neopterin is a good indicator of cellular immunity, and changes in neopterin may have diagnostic importance.
Methods: The study group consisted of 23 patients with autism. An age- and gender-matched control group was composed of 21 healthy subjects. Venous blood samples were collected, and the levels of neopterin were measured.
Results: The levels of neopterin were significantly higher in the autistic children than in the comparison subjects.
Conclusions: Cellular immunity may have a role in the aetiopathogenesis of autism. Increased serum neopterin levels may have diagnostic importance in autism.
C1 [Bodur, Sahin; Ceylan, Mehmet Fatih] Dr Sami Ulus Childrens Hosp, Dept Child & Adolescent Psychiat, TR-06080 Ankara, Turkey.
[Iseri, Elvan; Sener, Sahnur] Gazi Univ, Fac Med, Dept Child & Adolescent Psychiat, Ankara, Turkey.
[Yucel, Aysegul Atak] Gazi Univ, Fac Med, Dept Immunol, Ankara, Turkey.
RP Ceylan, MF (reprint author), Dr Sami Ulus Childrens Hosp, Dept Child & Adolescent Psychiat, TR-06080 Ankara, Turkey.
EM mehmetfceylan@yahoo.com
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NR 59
TC 1
Z9 1
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 2047-3869
EI 2047-3877
J9 INT J DEV DISABIL
JI Int. J. Dev. Disabil.
PD APR
PY 2014
VL 60
IS 2
BP 109
EP 115
DI 10.1179/2047387713Y.0000000029
PG 7
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AI7SW
UT WOS:000337099700005
ER
PT J
AU Sarginson, C
AF Sarginson, Catherine
TI Practical mathematics for children with an autism spectrum disorder and
other developmental delays
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES
LA English
DT Book Review
CR ADKINS J, 2013, PRACTICAL MATH CHILD
NR 1
TC 0
Z9 0
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 2047-3869
EI 2047-3877
J9 INT J DEV DISABIL
JI Int. J. Dev. Disabil.
PD APR
PY 2014
VL 60
IS 2
BP 117
EP 118
PG 2
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AI7SW
UT WOS:000337099700008
ER
PT J
AU Culling, E
AF Culling, Ewan
TI Development and brain systems in autism
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES
LA English
DT Book Review
CR JUST MA, 2013, DEV BRAIN SYSTEMS AU
NR 1
TC 0
Z9 0
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 2047-3869
EI 2047-3877
J9 INT J DEV DISABIL
JI Int. J. Dev. Disabil.
PD APR
PY 2014
VL 60
IS 2
BP 118
EP 119
PG 2
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AI7SW
UT WOS:000337099700009
ER
PT J
AU Streck, EL
Goncalves, CL
Furlanetto, CB
Scaini, G
Dal-Pizzol, F
Quevedo, J
AF Streck, Emilio L.
Goncalves, Cinara L.
Furlanetto, Camila B.
Scaini, Giselli
Dal-Pizzol, Felipe
Quevedo, Joao
TI Mitochondria and the central nervous system: searching for a
pathophysiological basis of psychiatric disorders
SO REVISTA BRASILEIRA DE PSIQUIATRIA
LA English
DT Article
DE Mitochondria; central nervous system; neuroplasticity; cell death
ID OBSESSIVE-COMPULSIVE DISORDER; LONG-TERM POTENTIATION;
MAGNETIC-RESONANCE-SPECTROSCOPY; ENDOPLASMIC-RETICULUM CA2+; INCREASED
OXIDATIVE STRESS; AUTISM SPECTRUM DISORDERS; MAJOR DEPRESSIVE DISORDER;
GLUTATHIONE-S-TRANSFERASE; APOPTOSIS-INDUCING FACTOR; OXYGEN SPECIES
PRODUCTION
AB Introduction: Mitochondrial dysfunction has been postulated to participate in the development of many neuropsychiatric disorders, but there is no consensus as to its role. The aim of this paper is to review recent studies and to outline the current understanding of the association between mitochondrial dysfunction and psychiatric disorders.
Methodology: We reviewed articles that evaluated mitochondrial dysfunction and psychiatric disorders, with a particular focus on depression, bipolar disorder, anxiety disorders, obsessive-compulsive disorder, and autism spectrum disorder, and the association between mitochondrial dysfunction and development of these disorders.
Results: Evidence suggests that alterations in mitochondrial morphology, brain energy metabolism, and mitochondrial enzyme activity may be involved in the pathophysiology of different neuropsychiatric disorders, given their key role in energy metabolism in the cell.
Conclusions: Understanding the interactions between mitochondrial dysfunction and development of psychiatric disorders may help establish more effective therapeutic strategies for these disorders and thus lead to better outcomes for affected subjects.
C1 [Streck, Emilio L.; Goncalves, Cinara L.; Furlanetto, Camila B.; Scaini, Giselli; Dal-Pizzol, Felipe] Univ Extremo Sul Catarinense UNESC, Bioenerget Lab, Grad Program Hlth Sci, Criciuma, SC, Brazil.
[Streck, Emilio L.; Goncalves, Cinara L.; Furlanetto, Camila B.; Scaini, Giselli; Dal-Pizzol, Felipe; Quevedo, Joao] Natl Sci & Technol Inst Translat Med INCT TM, Porto Alegre, RS, Brazil.
[Streck, Emilio L.; Goncalves, Cinara L.; Furlanetto, Camila B.; Scaini, Giselli; Dal-Pizzol, Felipe; Quevedo, Joao] Ctr Excellence Appl Neurosci Santa Catarina NENAS, Florianopolis, SC, Brazil.
[Quevedo, Joao] Univ Extremo Sul Catarinense, Grad Program Hlth Sci, Neurosci Lab, Criciuma, SC, Brazil.
RP Streck, EL (reprint author), Univ Extremo Sul Catarinense, Lab Bioenerget, Av Univ 1105, BR-88806000 Criciuma, SC, Brazil.
EM emiliostreck@gmail.com
RI Scaini, Giselli/G-1378-2014; Dal-Pizzol, Felipe/F-2756-2015
OI Scaini, Giselli/0000-0002-9880-0887;
FU Graduate Program in Health Sciences at Universidade do Extremo Sul
Catarinense (UNESC); Coordenacao de Aperfeicoamento de Pessoal de Nivel
Superior (CAPES); Conselho Nacional de Desenvolvimento Cientifico e
Tecnologico (CNPq)
FX This study was supported by grants from the Graduate Program in Health
Sciences at Universidade do Extremo Sul Catarinense (UNESC), Coordenacao
de Aperfeicoamento de Pessoal de Nivel Superior (CAPES), and Conselho
Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq).
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NR 176
TC 2
Z9 2
PU ASSOC BRASILEIRA PSIQUIATRIA
PI SAO PAULO
PA SUBSCRIPTION DEPARTMENT, RUA PEDRO DE TOLEDO, 967 - CASA 01, SAO PAULO,
SP 04039-032 A, BRAZIL
SN 1516-4446
J9 REV BRAS PSIQUIATR
JI Rev. Bras. Psiquiatr.
PD APR-JUN
PY 2014
VL 36
IS 2
BP 156
EP 167
DI 10.1590/1516-4446-2013-1224
PG 12
WC Psychiatry
SC Psychiatry
GA AI8ZJ
UT WOS:000337215200010
PM 24845118
ER
PT J
AU Iosa, M
Morelli, D
Nisi, E
Sorbara, C
Negrini, S
Gentili, P
Paolucci, S
Fusco, A
AF Iosa, Marco
Morelli, Daniela
Nisi, Enrica
Sorbara, Carlo
Negrini, Stefano
Gentili, Paola
Paolucci, Stefano
Fusco, Augusto
TI Assessment of upper body accelerations in young adults with intellectual
disabilities while walking, running, and dual-task running
SO HUMAN MOVEMENT SCIENCE
LA English
DT Article
DE Kinematic analysis; Accelerometry; Down syndrome; Autism disorders;
Pervasive developmental disorders; Biomechanics
ID INERTIAL MEASUREMENT UNIT; GAIT ANALYSIS; TRIAXIAL ACCELEROMETER;
AUTISTIC-CHILDREN; EXERCISE; RELIABILITY; BALANCE; PATTERNS; MOTION;
LEVEL
AB There is an increasing interest about upper body accelerations during locomotion and how they are altered by physical impairments. Recent studies have demonstrated that cognitive impairments affect gait stability in the elderly (i.e., their capacity for smoothing upper body accelerations during walking) but little attention has been paid to young adults with intellectual disabilities. The purpose of this study was to examine upright stability in young adults with intellectual disabilities during walking, running, and dual-task running (playing soccer). To this aim a wearable trunk-mounted device that permits on-field assessment was used to quantify trunk acceleration of 18 male teenagers with intellectual disabilities (IDG) and 7 mental-age-matched healthy children (HCG) who participated in the same soccer program. We did not find any significant difference during walking in terms of speed, whereas speed differences were found during running (p = .001). Upper body accelerations were altered in a pathology-specific manner during the dual task: the performance of subjects with autistic disorders was compromised while running and controlling the ball with the feet. Differences in upright locomotor patterns between IDG and HCG emerged during more demanding motor tasks in terms of a loss in the capacity of smoothing accelerations at the trunk level. Crown Copyright (C) 2014 Published by Elsevier B.V. All rights reserved.
C1 [Iosa, Marco; Paolucci, Stefano; Fusco, Augusto] Fdn Santa Lucia, IRCCS, Clin Lab Expt Neurorehabil, I-00179 Rome, Italy.
[Morelli, Daniela; Gentili, Paola; Paolucci, Stefano] Fdn Santa Lucia, IRCCS, I-00179 Rome, Italy.
[Nisi, Enrica; Sorbara, Carlo] Totti Soccer Sch, Rome, Italy.
[Negrini, Stefano] Univ Brescia, I-25121 Brescia, Italy.
[Negrini, Stefano] Fdn Don C Gnocchi, IRCCS, Milan, Italy.
RP Iosa, M (reprint author), Fdn Santa Lucia, IRCCS, Clin Lab Expt Neurorehabil, Via Ardeatina 306, I-00179 Rome, Italy.
EM m.iosa@hsantalucia.it
RI Negrini, Stefano/B-6667-2013; Fusco, Augusto/K-5794-2012
OI Negrini, Stefano/0000-0002-1878-2747; Fusco, Augusto/0000-0002-8528-7834
FU provincial government "Provincia di Roma" through the SPORT-AB
(Sport-Ability); CARESS (from Childhood to Adulthood: Rehabilitation and
Enabling Sport for Sociability) projects
FX This study was supported by our Foundation and by the provincial
government "Provincia di Roma" through the SPORT-AB (Sport-Ability) and
CARESS (from Childhood to Adulthood: Rehabilitation and Enabling Sport
for Sociability) projects, based on the initiatives of Antonio Rosati
and Patrizia Prestipino.
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NR 41
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0167-9457
EI 1872-7646
J9 HUM MOVEMENT SCI
JI Hum. Mov. Sci.
PD APR
PY 2014
VL 34
BP 187
EP 195
DI 10.1016/j.humov.2014.02.005
PG 9
WC Neurosciences; Psychology; Psychology, Experimental; Sport Sciences
SC Neurosciences & Neurology; Psychology; Sport Sciences
GA AI6TM
UT WOS:000337009900017
PM 24630612
ER
PT J
AU Holmes, LG
Himle, MB
Sewell, KK
Carbone, PS
Strassberg, DS
Murphy, NA
AF Holmes, Laura G.
Himle, Michael B.
Sewell, Kelsey K.
Carbone, Paul S.
Strassberg, Donald S.
Murphy, Nancy A.
TI Addressing Sexuality in Youth with Autism Spectrum Disorders: Current
Pediatric Practices and Barriers
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Article
DE autism spectrum disorder; adolescence; sexuality; puberty; prevention
ID ADOLESCENTS; ADULTS; DISABILITIES; PERSPECTIVES; CHILDREN; ISSUES;
SAMPLE
AB Objective: Research on adolescents and young adults with autism spectrum disorders (ASDs) has focused on promoting independence and optimizing quality of life, yet the areas of sexual development and sexuality has been largely neglected. The American Academy of Pediatrics encourages pediatricians to address sexuality issues in youth with disabilities to foster healthy development and minimize negative consequences. However, it is unclear to what extent pediatricians address sexuality issues in this population. Methods: Two hundred three pediatricians who regularly care for youth with ASD completed an online survey about their experiences in providing sexuality-related care to families and youth with ASD. Results: Respondents discussed an average of 10.9 of 26 sexuality topics with all families at least once during routine visits. Experience in caring for youth with ASD correlated positively with the number of sexuality-related topics discussed and with self-reported comfort discussing sexuality with parents of youth with ASD. The most common barriers to providing comprehensive sexuality-related care to youth with ASD included logistical barriers, pediatrician and parent discomfort, lack of training, and absence of information and materials to help pediatricians address sexuality in this population. Conclusions: Although most pediatricians acknowledged the importance of addressing sexuality-related issues with youth with ASD and their families, several important sexuality-related topics were rarely discussed due to a variety of perceived barriers. Implications and recommendations are discussed.
C1 [Holmes, Laura G.; Himle, Michael B.; Sewell, Kelsey K.; Strassberg, Donald S.] Univ Utah, Dept Psychol, Salt Lake City, UT 84112 USA.
[Carbone, Paul S.; Murphy, Nancy A.] Univ Utah, Sch Med, Dept Pediat, Salt Lake City, UT 84112 USA.
RP Himle, MB (reprint author), Univ Utah, Dept Psychol, Salt Lake City, UT 84112 USA.
EM michael.himle@utah.edu
CR Akers AY, 2010, J WOMENS HEALTH, V19, P1163, DOI 10.1089/jwh.2009.1735
Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal Investigators Centers for Disease Control and Prevention, 2012, MMWR SURVEILL SUMM, V61, P1
Ballan MS, 2012, J AUTISM DEV DISORD, V42, P676, DOI 10.1007/s10803-011-1293-y
Barbaro J, 2009, J DEV BEHAV PEDIATR, V30, P447, DOI 10.1097/DBP.0b013e3181ba0f9f
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World Health Organization, 2002, DEF SEX HLTH REP TEC
NR 23
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0196-206X
EI 1536-7312
J9 J DEV BEHAV PEDIATR
JI J. Dev. Behav. Pediatr.
PD APR
PY 2014
VL 35
IS 3
BP 172
EP 178
PG 7
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA AI4QE
UT WOS:000336849100002
PM 24651831
ER
PT J
AU Davignon, MN
Friedlaender, E
Cronholm, PF
Paciotti, B
Levy, SE
AF Davignon, Meghan N.
Friedlaender, Eron
Cronholm, Peter F.
Paciotti, Breah
Levy, Susan E.
TI Parent and Provider Perspectives on Procedural Care for Children with
Autism Spectrum Disorders
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Article
DE autism spectrum disorders; medical procedures; communication;
preparation; delivery of healthcare
ID COMMUNICATION
AB Objective: Children with autism spectrum disorders (CWASDs) have more difficulty tolerating hospital procedures than many other children. The aim of this study was to identify parent and provider perspectives on barriers and facilitators to procedural care for CWASDs. Methods: Semistructured interviews were conducted with medical staff and parents of CWASDs. Those parents whose child with autism required a procedure in a tertiary care sedation unit and those whose child was enrolled in autismMatch (a research registry for individuals with autism) were recruited. Staff providing direct patient care in the tertiary care sedation unit were recruited. Participants were asked open-ended questions about factors contributing to or interfering with successful completion of medical procedures for CWASDs. Interviews were audio-recorded, transcribed verbatim, coded, and analyzed using modified grounded theory techniques. Results: Twenty mothers and 20 medical staff members were interviewed. Participants described 2 domains essential to care of CWASDs but in which barriers existed: (1) productive interactions between providers and families, largely dependent on advanced preparation and (2) modifications to healthcare organization and delivery in the areas of patient flow and clinical environment. Individualized care is essential to quality care in both domains. Conclusions: Children with autism spectrum disorders require individualized interventions to maximize the quality of procedural care. However, many hospitals and providers are not sufficiently equipped to accommodate these children's needs. This study suggests that targeted improvements in preparation and communication between providers and families as well as modifications in patient flow and clinical environments have the potential to improve the quality and successful completion of procedures.
C1 [Davignon, Meghan N.; Levy, Susan E.] Childrens Hosp Philadelphia, Dept Child Dev, Philadelphia, PA 19104 USA.
[Davignon, Meghan N.] Permanente Med Grp Inc, Oakland, CA USA.
[Davignon, Meghan N.] Kaiser Roseville Med Ctr, Roseville, CA USA.
[Friedlaender, Eron] Childrens Hosp Philadelphia, Dept Emergency Med, Philadelphia, PA 19104 USA.
[Friedlaender, Eron; Cronholm, Peter F.; Paciotti, Breah; Levy, Susan E.] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Cronholm, Peter F.] Univ Penn, Dept Family Med & Community Hlth, Philadelphia, PA 19104 USA.
[Cronholm, Peter F.] Univ Penn, Ctr Publ Hlth Initiat, Philadelphia, PA 19104 USA.
[Cronholm, Peter F.] Univ Penn, Leonard Davis Inst Hlth Econ, Philadelphia, PA 19104 USA.
[Levy, Susan E.] Ctr Autism Res, Philadelphia, PA USA.
RP Davignon, MN (reprint author), Kaiser Permanente, Roseville Med Ctr, 1600 Eureka Rd,MOB 2,2nd Floor, Roseville, CA 95661 USA.
EM davignonmeghan@gmail.com
FU Maternal Child Health Bureau [T77MC00012, T73MC00051]; Health Resources
and Services Administration; Department of Health and Human Services;
Chairman's Initiative Grant of the Department of Pediatrics at The
Children's Hospital of Philadelphia
FX M. N. Davignon was supported by projects T77MC00012 and T73MC00051 from
the Maternal Child Health Bureau (Public Health Service Act, Section
399BB(e)(1)(A), as amended by the Combating Autism Act of 2006), Health
Resources and Services Administration, Department of Health and Human
Services. The project was also supported by the Chairman's Initiative
Grant of the Department of Pediatrics at The Children's Hospital of
Philadelphia (E.F.). The authors declare no conflict of interest.
CR America Committee on Quality of Health Care (Institute of Medicine), 2001, CROSSING QUALITY CHA, P61
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[Anonymous], 2010, NVIVO QUALITATIVE DA
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CDC, 2012, MMWR SURVEILL SUMM, V61, P1
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Woldoff S, 2009, P 8 ANN INT M AUST R
NR 26
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0196-206X
EI 1536-7312
J9 J DEV BEHAV PEDIATR
JI J. Dev. Behav. Pediatr.
PD APR
PY 2014
VL 35
IS 3
BP 207
EP 215
PG 9
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA AI4QE
UT WOS:000336849100007
PM 24662617
ER
PT J
AU Harstad, E
Mauras, C
Weissman, L
Augustyn, M
AF Harstad, Elizabeth
Mauras, Carrie
Weissman, Laura
Augustyn, Marilyn
TI Autism After DSM 5: The Potential Impact in One Child's Case
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Editorial Material
ID SPECTRUM DISORDER; DIAGNOSIS; CRITERIA; TODDLERS
AB CASE: Max is a 21-month old boy with speech and language delay presenting for diagnostic clarification and treatment recommendations. Max was born at 37 weeks after a twin gestation. He is medically healthy and lives at home with supportive parents and a typically developing twin sister. Max began speech and language therapy when he was 14 months old.
Max spoke his first word at 16 months. He uses fewer than 10 words or word approximations; however, he does not use these words spontaneously to communicate. Max has decreased use of eye contact and rarely uses nonverbal means of communication. Max whines but does not point or reference his parents to request their help when he wants something out of reach. Max responds to 1-step directions about 50% of the time. An audiology assessment was normal. Max does not bring objects of interest to show others, rarely initiates interactions and does not consistently respond to social overtures.
Max is described as an easy-going child. He is content to play on his own and shows little interest in other children. He likes to spin wheels for the purpose of watching them. Max has no rigidities or rituals and is easy to redirect. He has no sensory seeking behaviors or aversions. He does not engage in any repetitive motor mannerisms.
On formal evaluation, Max's cognitive skills were assessed within the average range; language and gross motor skills were below average. Performance on the Autism Diagnostic Observation Schedule, Toddler Module was concerning for an Autism Spectrum Disorder (ASD).
Max's evaluation was concerning for deficits in social and communication functioning. A new Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) was recently published, resulting in a change in the diagnostic criteria for ASDs. Max meets criteria for autistic disorder under DSM, 4th edition, text revision (DSM-4-TR), but does not meet criteria for an ASD under DSM-5. Specifically by DSM-4-TR, he met all criteria under social interaction, 2 criteria under communication, and 1 under restricted and repetitive behaviors. By DSM-5, he met all of criteria A and just 1 of criteria B. How would you proceed diagnostically and what treatment recommendations would you make?
C1 [Harstad, Elizabeth; Mauras, Carrie; Weissman, Laura] Harvard Univ, Sch Med, Boston Childrens Hosp, Div Dev Med, Boston, MA 02163 USA.
[Augustyn, Marilyn] Boston Univ, Sch Med, Boston Med Ctr, Div Dev & Behav Pediat, Boston, MA 02118 USA.
RP Harstad, E (reprint author), Harvard Univ, Sch Med, Boston Childrens Hosp, Div Dev Med, Boston, MA 02163 USA.
CR Barton ML, 2013, J AUTISM DEV DISORD, V43, P1184, DOI 10.1007/s10803-013-1817-8
Dawson G, 2010, PEDIATRICS, V125, pE17, DOI 10.1542/peds.2009-0958
Guthrie W, 2013, J CHILD PSYCHOL PSYC, V54, P582, DOI 10.1111/jcpp.12008
Maenner MJ, JAMA PSYCHIAT
Matson JL, 2012, J AUTISM DEV DISORD, V42, P1549, DOI 10.1007/s10803-012-1582-0
Matson JL, 2012, DEV NEUROREHABIL, V15, P185, DOI 10.3109/17518423.2012.672341
Reiff MI, 2014, J DEV BEHAV PEDIATR, V35, P68, DOI 10.1097/DBP.0000000000000017
Vismara LA, 2010, ANNU REV CLIN PSYCHO, V6, P447, DOI 10.1146/annurev.clinpsy.121208.131151
Wong C, EVIDENCE BASED PRACT
Zwaigenbaum L, 2012, DEV MED CHILD NEUROL, V54, P871, DOI 10.1111/j.1469-8749.2012.04424.x
NR 10
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0196-206X
EI 1536-7312
J9 J DEV BEHAV PEDIATR
JI J. Dev. Behav. Pediatr.
PD APR
PY 2014
VL 35
IS 3
BP 228
EP 229
PG 2
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA AI4QE
UT WOS:000336849100010
PM 24695121
ER
PT J
AU Tragea, C
Chrousos, GP
Alexopoulos, EC
Darviri, C
AF Tragea, Christina
Chrousos, George P.
Alexopoulos, Evangelos C.
Darviri, Christina
TI A randomized controlled trial of the effects of a stress management
programme during pregnancy
SO COMPLEMENTARY THERAPIES IN MEDICINE
LA English
DT Article
DE Anxiety; Stress; Pregnancy; Relaxation; Stress management
ID MATERNAL PRENATAL STRESS; PSYCHOSOCIAL PREDICTORS; PERCEIVED STRESS;
PRETERM BIRTH; RELAXATION; EXPOSURE; OUTCOMES; ANXIETY; AUTISM; WOMEN
AB Background: Prenatal maternal stress is associated with adverse birth outcomes. Relaxation techniques might be effective in reducing stress during that period. The purpose of this study was to evaluate the effects of applied relaxation in reducing anxiety and stress in pregnant women in their second trimester, as well as raising their sense of control. Also we expected to see a difference in some lifestyle factors associated with stress. A randomized control trial with a prospective pretest-posttest experimental design was used.
Methods: Sixty primigravida women in their second trimester were assigned randomly to receive a 6-week stress management programme (N = 31) (relaxation breathing and progressive muscle relaxation, RB-PMR, twice a day) or not (N = 29). Self-reported validated measures were used to evaluate perceived stress, health locus of control and anxiety at baseline and at the end of the 6-weeks follow-up.
Results: The results of the study demonstrated significant benefits from the use of the techniques in the psychological state of the pregnant women. The systematic implementation of the proposed relaxation techniques contributed in the reduction of perceived stress (mean change -3.23, 95% Cl: -4.29 to -0.29) and increased the sense of control (mean change 1.99, 95% Cl: 0.02-3.7).
Conclusion: The findings suggest beneficial effects of relaxation on reducing perceived stress as well as increment of sense of control in pregnant women. The results of this study support the claim that training in the proposed relaxation techniques may constitute an ideal, non-pharmaceutical, intervention that can promote well-being, at least during pregnancy. Longer studies will be necessary in the future, in order to examine the long-term effects of relaxation techniques. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Tragea, Christina; Chrousos, George P.; Alexopoulos, Evangelos C.; Darviri, Christina] Univ Athens, Postgrad Course Stress Management & Hlth Promot, Biomed Res Fdn, Sch Med,Acad Athens, GR-11527 Athens, Greece.
[Chrousos, George P.] Univ Athens, Dept Pediat 1, Childrens Hosp Aghia Sofia, Sch Med, GR-11527 Athens, Greece.
RP Darviri, C (reprint author), Soranou Ephessiou Str 4, GR-11527 Athens, Greece.
EM cdarviri@yahoo.com
FU Attikon maternity hospital in Attica from the Department of Foetal
Medicine
FX The research was specifically supported by the Attikon maternity
hospital in Attica, more specifically from the Department of Foetal
Medicine. We are grateful to Professor Kassanos who gave us access to
the above department. We would also like to thank the obstetrician
gynaecologists (Dr. Alexopoulos E., Dr. Salakos N., Dr. Mouzalas I., Dr.
Tzeferakos A., and Dr. Athanasiou S.) who gave us access to their
private clinics and for their support.
CR Anagnostopoulou T, 2002, PSYCHOMETRIC TOOLS G
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NR 51
TC 0
Z9 0
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 0965-2299
EI 1873-6963
J9 COMPLEMENT THER MED
JI Complement. Ther. Med.
PD APR
PY 2014
VL 22
IS 2
BP 203
EP 211
DI 10.1016/j.ctim.2014.01.006
PG 9
WC Integrative & Complementary Medicine
SC Integrative & Complementary Medicine
GA AH9OR
UT WOS:000336472200002
PM 24731890
ER
PT J
AU Cederlof, M
Ostberg, P
Pettersson, E
Anckarsater, H
Gumpert, C
Lundstrom, S
Lichtenstein, P
AF Cederlof, M.
Ostberg, P.
Pettersson, E.
Anckarsater, H.
Gumpert, C.
Lundstrom, S.
Lichtenstein, P.
TI Language and mathematical problems as precursors of psychotic-like
experiences and juvenile mania symptoms
SO PSYCHOLOGICAL MEDICINE
LA English
DT Article
DE Juvenile mania symptoms; language problems; mathematical problems;
psychotic-like experiences
ID BIPOLAR DISORDER; BIRTH-COHORT; SCHIZOPHRENIFORM DISORDER; TELEPHONE
INTERVIEW; YOUNG-PEOPLE; AUTISM-TICS; A-TAC; CHILDHOOD; ANTECEDENTS;
VALIDATION
AB Background. Psychotic-like experiences (PLEs) and juvenile mania in adolescence index risk for severe psychopathology in adulthood. The importance of childhood problems with communication, reading, speech and mathematics for the development of PLEs and juvenile mania is not well understood.
Method. Through the Child and Adolescent Twin Study in Sweden, we identified 5812 children. The parents were interviewed about their children's development at age 9 or 12 years. At age 15 or 18 years, children and parents completed questionnaires targeting current PLEs and juvenile mania symptoms. Logistic regressions were used to assess associations between problems with communication, reading, speech and mathematics and PLEs/juvenile mania symptoms. To evaluate the relative importance of genes and environment in these associations, we used bivariate twin analyses based on structural equation models.
Results. Children with parent-endorsed childhood problems with communication, reading and mathematics had an increased risk of developing auditory hallucinations and parental-reported juvenile mania symptoms in adolescence. The most consistent finding was that children with childhood problems with communication, reading and mathematics had an increased risk of developing auditory hallucinations [for example, the risk for self-reported auditory hallucinations at age 15 was increased by 96% for children with communication problems: OR (odds ratio) 1.96, 95% confidence interval (CI) 1.33-2.88]. The twin analyses showed that genetic effects accounted for the increased risk of PLEs and juvenile mania symptoms among children with communication problems.
Conclusions. Childhood problems with communication, reading and mathematics predict PLEs and juvenile mania symptoms in adolescence. Similar to the case for schizophrenia and bipolar disorder, PLEs and juvenile mania may share genetic aetiological factors.
C1 [Cederlof, M.; Pettersson, E.; Lichtenstein, P.] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden.
[Ostberg, P.] Karolinska Inst, Dept Clin Sci Intervent & Technol, Div Speech & Language Pathol, SE-17177 Stockholm, Sweden.
[Anckarsater, H.] Lund Univ, Dept Clin Sci, S-22100 Lund, Sweden.
[Anckarsater, H.] Univ Gothenburg, Inst Neurosci & Physiol, Gothenburg, Sweden.
[Gumpert, C.] Karolinska Inst, Sect Forens Psychiat, Dept Clin Neurosci, SE-17177 Stockholm, Sweden.
[Lundstrom, S.] Univ Gothenburg, Ctr Eth Law & Mental Hlth CELAM, Gothenburg, Sweden.
[Lundstrom, S.] Univ Gothenburg, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden.
RP Cederlof, M (reprint author), Karolinska Inst, Dept Med Epidemiol & Biostat, Box 281, SE-17177 Stockholm, Sweden.
EM Martin.Cederlof@ki.se
FU Swedish Research Council [2011-2492]
FX We thank the children and parents who participated in this study. M. C.
received funding from the Swedish Research Council (grant no.
2011-2492).
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NR 33
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0033-2917
EI 1469-8978
J9 PSYCHOL MED
JI Psychol. Med.
PD APR
PY 2014
VL 44
IS 6
BP 1293
EP 1302
DI 10.1017/S0033291713002018
PG 10
WC Psychology, Clinical; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AI2DX
UT WOS:000336668700016
PM 23942194
ER
PT J
AU Bennett, RH
Bolling, DZ
Anderson, LC
Pelphrey, KA
Kaiser, MD
AF Bennett, Randi H.
Bolling, Danielle Z.
Anderson, Laura C.
Pelphrey, Kevin A.
Kaiser, Martha D.
TI fNIRS detects temporal lobe response to affective touch
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE affective touch; autistic traits; CT afferents; fNIRS; superior temporal
sulcus
ID NEAR-INFRARED SPECTROSCOPY; DORSOLATERAL PREFRONTAL CORTEX; UNMYELINATED
TACTILE AFFERENTS; VISUAL-STIMULATION; INSULAR CORTEX; PLEASANT TOUCH;
SOCIAL BRAIN; INFANTS; OXYGENATION; ACTIVATION
AB Touch plays a crucial role in social-emotional development. Slow, gentle touch applied to hairy skin is processed by C-tactile (CT) nerve fibers. Furthermore, 'social brain' regions, such as the posterior superior temporal sulcus (pSTS) have been shown to process CT-targeted touch. Research on the development of these neural mechanisms is scant, yet such knowledge may inform our understanding of the critical role of touch in development and its dysfunction in disorders involving sensory issues, such as autism. The aim of this study was to validate the ability of functional near-infrared spectroscopy (fNIRS), an imaging technique well-suited for use with infants, to measure temporal lobe responses to CT-targeted touch. Healthy adults received brushing to the right forearm (CT) and palm (non-CT) separately, in a block design procedure. We found significant activation in right pSTS and dorsolateral prefrontal cortex to arm > palm touch. In addition, individual differences in autistic traits were related to the magnitude of peak activation within pSTS. These findings demonstrate that fNIRS can detect brain responses to CT-targeted touch and lay the foundation for future work with infant populations that will characterize the development of brain mechanisms for processing CT-targeted touch in typical and atypical populations.
C1 [Bennett, Randi H.; Bolling, Danielle Z.; Anderson, Laura C.; Pelphrey, Kevin A.; Kaiser, Martha D.] Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT 06520 USA.
RP Kaiser, MD (reprint author), Yale Univ, 230 South Frontage Rd, New Haven, CT 06520 USA.
EM martha.kaiser@yale.edu
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NR 73
TC 4
Z9 4
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD APR
PY 2014
VL 9
IS 4
BP 470
EP 476
DI 10.1093/scan/nst008
PG 7
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AH9UI
UT WOS:000336488700010
PM 23327935
ER
PT J
AU Watanabe, H
Nakamura, M
Ohno, T
Itahashi, T
Tanaka, E
Ohta, H
Yamada, T
Kanai, C
Iwanami, A
Kato, N
Hashimoto, R
AF Watanabe, Hiromi
Nakamura, Motoaki
Ohno, Taisei
Itahashi, Takashi
Tanaka, Eizaburo
Ohta, Haruhisa
Yamada, Takashi
Kanai, Chieko
Iwanami, Akira
Kato, Nobumasa
Hashimoto, Ryuichiro
TI Altered orbitofrontal sulcogyral patterns in adult males with
high-functioning autism spectrum disorders
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE autism spectrum disorder; magnetic resonance imaging; orbitofrontal
cortex; brain sulcus; autistic trait
ID OBSESSIVE-COMPULSIVE DISORDER; REPETITIVE BEHAVIOR; PREFRONTAL CORTEX;
QUOTIENT AQ; VOLUME REDUCTION; SCHIZOPHRENIA; BRAIN; METAANALYSIS;
CHILDREN; GYRIFICATION
AB Functions of the orbitofrontal cortex include diverse social, cognitive and affective processes, many of which are abnormal in autism spectrum disorders (ASDs). Recently, altered orbitofrontal sulcogyral patterns have been revealed in several psychiatric conditions, such as schizophrenia, indicating a possibility that altered orbitofrontal sulcogyral morphology reflects abnormal neurodevelopment. However, the presence of sulcal alterations in ASD remains unexplored. Using structural magnetic resonance imaging, subtypes of the 'H-shaped' sulcus (Type I, II and III, in order of frequency), posterior orbital sulcus (POS) and intermediate orbital sulcus were identified in each hemisphere of adult males with ASD (n = 51) and matched normal controls (n = 55) based on the study by Chiavaras and Petrides. ASD showed a significantly altered distribution of H-shaped sulcal subtypes in both hemispheres, with a significant increase of Type III. A significant alteration in the distribution of sulcal subtypes was also identified in the right hemisphere POS of ASD. Categorical regression analysis revealed that Type I and II expressions predicted a reduced total Autism-Spectrum Quotient score. Furthermore, Type I expression was associated with a reduced 'attention' to detail' subscale score. The results demonstrate that altered sulcogyral morphology can be a marker for abnormal neurodevelopment leading to the increased risk of developing autism.
C1 [Watanabe, Hiromi; Nakamura, Motoaki; Ohno, Taisei; Tanaka, Eizaburo; Ohta, Haruhisa; Yamada, Takashi; Kanai, Chieko; Iwanami, Akira; Kato, Nobumasa; Hashimoto, Ryuichiro] Showa Univ, Dept Psychiat, Sch Med, Tokyo 1578577, Japan.
[Nakamura, Motoaki] Kinkou Hosp, Kanagawa Psychiat Ctr, Yokohama, Kanagawa, Japan.
[Nakamura, Motoaki; Kanai, Chieko; Kato, Nobumasa; Hashimoto, Ryuichiro] Japan Sci & Technol Agcy, CREST, Tokyo, Japan.
[Itahashi, Takashi] Showa Univ, Sch Med, Dept Pharmacognosy & Phytochem, Tokyo 142, Japan.
[Tanaka, Eizaburo] Nagoya Univ, Dept Social Life Sci, Grad Sch Med, Nagoya, Aichi 4648601, Japan.
[Hashimoto, Ryuichiro] Tokyo Metropolitan Univ, Dept Language Sci, Grad Sch Humanities, Tokyo 158, Japan.
RP Hashimoto, R (reprint author), Showa Univ, Dept Psychiat, Sch Med, Setagaya Ku, 6-11-11 Kita Karasuyama, Tokyo 1578577, Japan.
EM dbridges50@gmail.com
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NR 59
TC 0
Z9 0
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD APR
PY 2014
VL 9
IS 4
BP 520
EP 528
DI 10.1093/scan/nst016
PG 9
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AH9UI
UT WOS:000336488700016
PM 23386741
ER
PT J
AU Elsabbagh, M
Bedford, R
Senju, A
Charman, T
Pickles, A
Johnson, MH
AF Elsabbagh, Mayada
Bedford, Rachael
Senju, Atsushi
Charman, Tony
Pickles, Andrew
Johnson, Mark H.
CA BASIS Team
TI What you see is what you get: contextual modulation of face scanning in
typical and atypical development
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE infant; autism; language development; eye tracking
ID BROADER AUTISM PHENOTYPE; EYE CONTACT; LANGUAGE-DEVELOPMENT; SOCIAL
ATTENTION; JOINT ATTENTION; GAZE-FIXATION; INFANTS; CHILDREN;
INDIVIDUALS; ACTIVATION
AB Infants' visual scanning of social scenes is influenced by both exogenously and endogenously driven shifts of attention. We manipulate these factors by contrasting individual infants' distribution of visual attention to the eyes relative to the mouth when viewing complex dynamic scenes with multiple communicative signals (e.g. peek-a-boo), relative to the same infant viewing simpler scenes where only single features move (moving eyes, mouth and hands). We explore the relationship between context-dependent scanning patterns and later social and communication outcomes in two groups of infants, with and without familial risk for autism. Our findings suggest that in complex scenes requiring more endogenous control of attention, increased scanning of the mouth region relative to the eyes at 7 months is associated with superior expressive language (EL) at 36 months. This relationship holds even after controlling for outcome group. In contrast, in simple scenes where only the mouth is moving, those infants, irrespective of their group membership, who direct their attention to the repetitive moving feature, i.e. the mouth, have poorer EL at 36 months. Taken together, our findings suggest that scanning of complex social scenes does not begin as strikingly different in those infants later diagnosed with autism.
C1 [Elsabbagh, Mayada; Senju, Atsushi] McGill Univ, Fac Med, Dept Psychiat, Montreal, PQ H3A 1A1, Canada.
[Bedford, Rachael; Charman, Tony; Johnson, Mark H.; BASIS Team] Univ London, Ctr Brain & Cognit Dev, London, England.
[Pickles, Andrew] Kings Coll London, Inst Psychiat, London WC2R 2LS, England.
RP Elsabbagh, M (reprint author), McGill Univ, Fac Med, Dept Psychiat, 1033 Pine Ave West, Montreal, PQ H3A 1A1, Canada.
EM mayada.elsabbagh@mcgill.ca
RI Charman, Tony/A-2085-2014; Pickles, Andrew/A-9625-2011
OI Charman, Tony/0000-0003-1993-6549; Pickles, Andrew/0000-0003-1283-0346
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NR 48
TC 6
Z9 6
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD APR
PY 2014
VL 9
IS 4
BP 538
EP 543
DI 10.1093/scan/nst012
PG 6
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AH9UI
UT WOS:000336488700018
PM 23386743
ER
PT J
AU Stahmer, AC
AF Stahmer, Aubyn C.
TI Effective strategies by any other name
SO AUTISM
LA English
DT Editorial Material
ID AUTISM
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NR 16
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD APR
PY 2014
VL 18
IS 3
BP 211
EP 212
DI 10.1177/1362361314523357
PG 2
WC Psychology, Developmental
SC Psychology
GA AD7OY
UT WOS:000333454700001
PM 24754061
ER
PT J
AU Cridland, EK
Jones, SC
Magee, CA
Caputi, P
AF Cridland, Elizabeth K.
Jones, Sandra C.
Magee, Christopher A.
Caputi, Peter
TI Family-focused autism spectrum disorder research: A review of the
utility of family systems approaches
SO AUTISM
LA English
DT Review
DE support services; resilience; family functioning; subsystem; ambiguous
loss; stress; holistic approaches; dyad; family systems; autism spectrum
disorders; traumatic growth
ID QUALITY-OF-LIFE; PARTNER INTERDEPENDENCE MODEL; HIGH-FUNCTIONING
CHILDREN; ASPERGER-SYNDROME; DEVELOPMENTAL-DISABILITIES;
LEARNING-DISABILITIES; SOCIAL-INTERACTION; BEHAVIOR PROBLEMS;
YOUNG-CHILDREN; AMBIGUOUS LOSS
AB A family member with an autism spectrum disorder presents pervasive and bidirectional influences on the entire family system, suggesting a need for family-focused autism spectrum disorder research. While there has been increasing interest in this research area, family-focused autism spectrum disorder research can still be considered relatively recent, and there are limitations to the existing literature. The purpose of this article is to provide theoretical and methodological directions for future family-focused autism spectrum disorder research. In particular, this article proposes Family Systems approaches as a common theoretical framework for future family-focused autism spectrum disorder research by considering theoretical concepts such as Boundaries, Ambiguous Loss, Resilience and Traumatic Growth. We discuss reasons why these concepts are important to researching families living with autism spectrum disorder and provide recommendations for future research. The potential for research grounded in Family Systems approaches to influence clinical support services is also discussed.
C1 [Cridland, Elizabeth K.; Jones, Sandra C.; Magee, Christopher A.; Caputi, Peter] Univ Wollongong, Wollongong, NSW 2522, Australia.
RP Cridland, EK (reprint author), Univ Wollongong, Ctr Hlth Initiat, Bldg 233 ITAMS,Innovat Campus,Northfields Ave, Wollongong, NSW 2522, Australia.
EM ekc977@uowmail.edu.au
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NR 88
TC 4
Z9 4
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD APR
PY 2014
VL 18
IS 3
BP 213
EP 222
DI 10.1177/1362361312472261
PG 10
WC Psychology, Developmental
SC Psychology
GA AD7OY
UT WOS:000333454700002
PM 24092840
ER
PT J
AU Mazurek, MO
AF Mazurek, Micah O.
TI Loneliness, friendship, and well-being in adults with autism spectrum
disorders
SO AUTISM
LA English
DT Article
DE adults; anxiety; loneliness; friendship; depression; autism spectrum
disorders
ID HIGH-FUNCTIONING CHILDREN; GLOBAL SELF-ESTEEM; QUOTIENT AQ; SOCIAL
RELATIONSHIPS; DEPRESSIVE SYMPTOMS; PEER RELATIONSHIPS; VALIDITY
EVIDENCE; ASPERGER-SYNDROME; COLLEGE-STUDENTS; ADOLESCENT BOYS
AB This study examined the relations among loneliness, friendship, and emotional functioning in adults (N = 108) with autism spectrum disorders. Participants completed self-report measures of symptoms of autism spectrum disorders, loneliness, number and nature of friendships, depression, anxiety, life satisfaction, and self-esteem. The results indicated that loneliness was associated with increased depression and anxiety and decreased life satisfaction and self-esteem, even after controlling for symptoms of autism spectrum disorders. In addition, greater quantity and quality of friendships were associated with decreased loneliness among adults with autism spectrum disorders. Multivariate models indicated that friendship did not moderate the relationship between loneliness and well-being; however, number of friends provided unique independent effects in predicting self-esteem, depression, and anxiety above and beyond the effects of loneliness. This was the first study to examine the relations among these aspects of social and emotional functioning in adults with autism spectrum disorders, and the results indicate that this topic warrants further clinical and research attention.
C1 [Mazurek, Micah O.] Univ Missouri, Columbia, MO 65211 USA.
RP Mazurek, MO (reprint author), Univ Missouri, Dept Hlth Psychol, Thompson Ctr Autism & Neurodev Disorders, 205 Portland St, Columbia, MO 65211 USA.
EM mazurekm@missouri.edu
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NR 67
TC 6
Z9 6
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD APR
PY 2014
VL 18
IS 3
BP 223
EP 232
DI 10.1177/1362361312474121
PG 10
WC Psychology, Developmental
SC Psychology
GA AD7OY
UT WOS:000333454700003
PM 24092838
ER
PT J
AU Troyb, E
Orinstein, A
Tyson, K
Helt, M
Eigsti, IM
Stevens, M
Fein, D
AF Troyb, Eva
Orinstein, Alyssa
Tyson, Katherine
Helt, Molly
Eigsti, Inge-Marie
Stevens, Michael
Fein, Deborah
TI Academic abilities in children and adolescents with a history of autism
spectrum disorders who have achieved optimal outcomes
SO AUTISM
LA English
DT Article
DE outcomes; autism spectrum disorders; high-functioning autism; academic
functioning; optimal outcomes
ID INTENSIVE BEHAVIORAL TREATMENT; ASPERGER-SYNDROME; FOLLOW-UP; ADULTS;
INTERVENTION; INDIVIDUALS; AGE; IQ; COMMUNICATION; PREDICTORS
AB This study examines the academic abilities of children and adolescents who were once diagnosed with an autism spectrum disorder, but who no longer meet diagnostic criteria for this disorder. These individuals have achieved social and language skills within the average range for their ages, receive little or no school support, and are referred to as having achieved "optimal outcomes." Performance of 32 individuals who achieved optimal outcomes, 41 high-functioning individuals with a current autism spectrum disorder diagnosis (high-functioning autism), and 34 typically developing peers was compared on measures of decoding, reading comprehension, mathematical problem solving, and written expression. Groups were matched on age, sex, and nonverbal IQ; however, the high-functioning autism group scored significantly lower than the optimal outcome and typically developing groups on verbal IQ. All three groups performed in the average range on all subtests measured, and no significant differences were found in performance of the optimal outcome and typically developing groups. The high-functioning autism group scored significantly lower on subtests of reading comprehension and mathematical problem solving than the optimal outcome group. These findings suggest that the academic abilities of individuals who achieved optimal outcomes are similar to those of their typically developing peers, even in areas where individuals who have retained their autism spectrum disorder diagnoses exhibit some ongoing difficulty.
C1 [Troyb, Eva; Orinstein, Alyssa; Tyson, Katherine; Helt, Molly; Eigsti, Inge-Marie; Fein, Deborah] Univ Connecticut, Storrs, CT 06269 USA.
[Stevens, Michael] Yale Univ, Sch Med, New Haven, CT 06520 USA.
RP Troyb, E (reprint author), Univ Connecticut, Dept Psychol, 406 Babbidge Rd,Unit 1020, Storrs, CT 06269 USA.
EM eva.troyb@uconn.edu
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NR 45
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD APR
PY 2014
VL 18
IS 3
BP 233
EP 243
DI 10.1177/1362361312473519
PG 11
WC Psychology, Developmental
SC Psychology
GA AD7OY
UT WOS:000333454700004
PM 24096312
ER
PT J
AU Sharma, S
Woolfson, LM
Hunter, SC
AF Sharma, Shilpi
Woolfson, Lisa M.
Hunter, Simon C.
TI Maladaptive cognitive appraisals in children with high-functioning
autism: Associations with fear, anxiety and theory of mind
SO AUTISM
LA English
DT Article
DE appraisal; fear; cognition
ID PERVASIVE DEVELOPMENTAL DISORDERS; THREAT PERCEPTION ABNORMALITIES;
OBSESSIVE-COMPULSIVE DISORDER; SPECTRUM DISORDERS; SOCIAL ANXIETY;
ASPERGER-SYNDROME; CONTROLLED-TRIAL; CHILDHOOD ANXIETY; COVARIATION
BIAS; SYMPTOMS
AB Despite the well-documented success of cognitive restructuring techniques in the treatment of anxiety disorders, there is still little clarity on which cognitions underpin fear and anxiety in children with high-functioning autism spectrum disorder. This study examined whether certain cognitive appraisals, known to be associated with fear and anxiety in typically developing groups, may help explain these emotions in children with high-functioning autism spectrum disorder. It also investigated relations between these cognitive appraisals and theory of mind. Appraisals, fear and anxiety were assessed using a vignette approach in 22 children with high-functioning autism spectrum disorders and 22 typically developing children. The two groups differed significantly on all four appraisal types. Anxiety was negatively correlated with future expectancy and positively with problem-focused coping potential in the high-functioning autism spectrum disorder group but was not correlated with appraisals in the typically developing group. The two appraisals associated with fear were emotion-focused coping potential (in the high-functioning autism spectrum disorder group only) and self-accountability (in the typically developing group only). Linear regression analysis found that appraisals of emotion-focused coping potential, problem-focused coping potential and future expectancy were significant predictors of theory-of-mind ability in the high-functioning autism spectrum disorders group. These findings indicate that specific, problematic patterns of appraisal may characterise children with high-functioning autism spectrum disorders.
C1 [Sharma, Shilpi; Woolfson, Lisa M.; Hunter, Simon C.] Univ Strathclyde, Glasgow G1 1QE, Lanark, Scotland.
RP Sharma, S (reprint author), Univ Strathclyde, Sch Psychol Sci & Hlth, 40 George St, Glasgow G1 1QE, Lanark, Scotland.
EM shilpi.cd2@gmail.com
RI Hunter, Simon/C-4221-2014
OI Hunter, Simon/0000-0002-3922-1252
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NR 87
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD APR
PY 2014
VL 18
IS 3
BP 244
EP 254
DI 10.1177/1362361312472556
PG 11
WC Psychology, Developmental
SC Psychology
GA AD7OY
UT WOS:000333454700005
PM 24092841
ER
PT J
AU Mandelberg, J
Frankel, F
Cunningham, T
Gorospe, C
Laugeson, EA
AF Mandelberg, Josh
Frankel, Fred
Cunningham, Tina
Gorospe, Clarissa
Laugeson, Elizabeth A.
TI Long-term outcomes of parent-assisted social skills intervention for
high-functioning children with autism spectrum disorders
SO AUTISM
LA English
DT Article
DE social skills; autism; follow-up; intervention; children
ID BEHAVIOR CHECKLIST; ASPERGER-SYNDROME; LONELINESS; INDIVIDUALS;
ADOLESCENTS
AB This study aims to evaluate the long-term outcome of Children's Friendship Training, a parent-assisted social skills intervention for children. Prior research has shown Children's Friendship Training to be superior to wait-list control with maintenance of gains at 3-month follow-up. Participants were families of children diagnosed with autism spectrum disorder who completed Children's Friendship Training 1-5 years earlier. They were recruited through mail, phone, and email. Information collected included parent and child completed questionnaires and a phone interview. Data were collected on 24 of 52 potential participants (46%). With an average of 35-month follow-up, participants had a mean age of 12.6 years. Results indicated that participants at follow-up were invited on significantly more play dates, showed less play date conflict, improved significantly in parent-reported social skills and problem behaviors, and demonstrated marginally significant decreases in loneliness when compared to pre-Children's Friendship Training.
C1 [Mandelberg, Josh; Frankel, Fred; Cunningham, Tina; Gorospe, Clarissa; Laugeson, Elizabeth A.] Univ Calif Los Angeles, Los Angeles, CA 90095 USA.
RP Frankel, F (reprint author), Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, 300 UCLA Med Plaza, Los Angeles, CA 90095 USA.
EM ffrankel@ucla.edu
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NR 35
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD APR
PY 2014
VL 18
IS 3
BP 255
EP 263
DI 10.1177/1362361312472403
PG 9
WC Psychology, Developmental
SC Psychology
GA AD7OY
UT WOS:000333454700006
PM 23996903
ER
PT J
AU Campillo, C
Herrera, G
de Ganuza, CR
Cuesta, JL
Abellan, R
Campos, A
Navarro, I
Sevilla, J
Pardo, C
Amati, F
AF Campillo, Cristina
Herrera, Gerardo
Remirez de Ganuza, Conchi
Cuesta, Jose L.
Abellan, Raquel
Campos, Arturo
Navarro, Ignacio
Sevilla, Javier
Pardo, Carlos
Amati, Fabian
TI Using Tic-Tac software to reduce anxiety-related behaviour in adults
with autism and learning difficulties during waiting periods: A pilot
study
SO AUTISM
LA English
DT Article
DE technology; autism; time perception; anxiety-related behaviours
ID SPECTRUM DISORDERS; TIME PERCEPTION; CHILDREN; PERFORMANCE; THINKING
AB Deficits in the perception of time and processing of changes across time are commonly observed in individuals with autism. This pilot study evaluated the efficacy of the use of the software tool Tic-Tac, designed to make time visual, in three adults with autism and learning difficulties. This research focused on applying the tool in waiting situations where the participants exhibited anxiety-related behaviour. The intervention followed a baseline and intervention (AB) design, and a partial interval recording procedure was used to code the presence of stereotypes, nervous utterances, wandering or other examples of nervousness during the selected waiting situations. The results showed that the use of Tic-Tac resulted in lower levels of anxiety-related behaviour in all three participants, compared to the baseline, suggesting that this software may be an effective technology for helping people with autism with organisation and predictability during waiting periods. The results are discussed in terms of limitations and implications for further study.
C1 [Campillo, Cristina; Herrera, Gerardo; Abellan, Raquel; Campos, Arturo; Navarro, Ignacio; Sevilla, Javier; Pardo, Carlos; Amati, Fabian] Univ Valencia, Paterna Valencia 46980, Spain.
[Remirez de Ganuza, Conchi; Cuesta, Jose L.] Autismo Burgos, Burgos, Spain.
RP Herrera, G (reprint author), Univ Valencia, Autism & Learning Difficulties Grp, C Catedrat Jose Beltran 2, Paterna Valencia 46980, Spain.
EM Gerardo.Herrera@uv.es
CR Allman MJ, 2011, AJIDD-AM J INTELLECT, V116, P165, DOI 10.1352/1944-7558-116.2.165
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Bogdashina O., 2005, COMMUNICATION ISSUES
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NR 33
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD APR
PY 2014
VL 18
IS 3
BP 264
EP 271
DI 10.1177/1362361312472067
PG 8
WC Psychology, Developmental
SC Psychology
GA AD7OY
UT WOS:000333454700007
PM 24092839
ER
PT J
AU Rao, PA
Landa, RJ
AF Rao, Patricia A.
Landa, Rebecca J.
TI Association between severity of behavioral phenotype and comorbid
attention deficit hyperactivity disorder symptoms in children with
autism spectrum disorders
SO AUTISM
LA English
DT Article
DE comorbidity; symptom severity; autism; attention deficit hyperactivity
disorder
ID PERVASIVE DEVELOPMENTAL DISORDERS; DEFICIT/HYPERACTIVITY DISORDER; ADHD;
ADOLESCENTS; ANXIETY; PSYCHOPATHOLOGY; SAMPLE
AB Autism spectrum disorder and attention deficit hyperactivity disorder are neurodevelopmental disorders that cannot be codiagnosed under existing diagnostic guidelines (Diagnostic and Statistical Manual of the American Psychiatric Association, 4th ed., text rev.). However, reports are emerging that attention deficit hyperactivity disorder is sometimes comorbid with autism spectrum disorder. In the current study, we examined rates of parent-reported clinically significant symptoms of attention deficit hyperactivity disorder in school-aged children (4-8 years) with autism spectrum disorder, most of whom were first enrolled in our research protocols as toddlers. Results revealed that children with autism spectrum disorder and attention deficit hyperactivity disorder had lower cognitive functioning, more severe social impairment, and greater delays in adaptive functioning than children with autism spectrum disorder only. Implications for clinical practice include the need to assess for attention deficit hyperactivity disorder symptoms at an early age in children diagnosed with autism spectrum disorder. Research is needed to determine efficacious interventions for young children with autism spectrum disorder with comorbid attention deficit hyperactivity disorder to optimize outcomes.
C1 [Rao, Patricia A.; Landa, Rebecca J.] Kennedy Krieger Inst, Baltimore, MD 21211 USA.
RP Landa, RJ (reprint author), Kennedy Krieger Inst, Ctr Autism & Related Disorders, 3901 Greenspring Ave, Baltimore, MD 21211 USA.
EM landa@kennedykrieger.org
CR Achenbach TM, 1991, MANUAL CHILD BEHAV C
Antshel KM, 2011, J DEV BEHAV PEDIATR, V32, P439, DOI 10.1097/DBP.0b013e318222355d
(APA) APA, 2000, DIAGN STAT MAN MENT
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Chamberlain B, 2007, J AUTISM DEV DISORD, V37, P230, DOI 10.1007/s10803-006-0164-4
Constantino JN, 2010, AM J PSYCHIAT, V167, P1349, DOI 10.1176/appi.ajp.2010.09101470
Constantino JN, 2005, SOCIAL RESPONSIVENES
Gadow KD, 2006, J AUTISM DEV DISORD, V36, P271, DOI 10.1007/s10803-005-0060-3
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Lord C., 2002, AUTISM DIAGNOSTIC OB
Mayes SD, 2011, J DEV PHYS DISABIL, V23, P325, DOI 10.1007/s10882-011-9231-7
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Reynolds C. R., 2004, BEHAV ASSESSMENT SYS, V2nd
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Ronald A, 2008, J CHILD PSYCHOL PSYC, V49, P535, DOI 10.1111/j.1469-7610.2007.01857.x
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Young Margaret B., 2012, Morbidity and Mortality Weekly Report, V61, P1
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Yerys BE, 2009, AUTISM RES, V2, P322, DOI 10.1002/aur.103
NR 37
TC 5
Z9 6
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD APR
PY 2014
VL 18
IS 3
BP 272
EP 280
DI 10.1177/1362361312470494
PG 9
WC Psychology, Developmental
SC Psychology
GA AD7OY
UT WOS:000333454700008
PM 23739542
ER
PT J
AU Leonard, HC
Bedford, R
Charman, T
Elsabbagh, M
Johnson, MH
Hill, EL
AF Leonard, Hayley C.
Bedford, Rachael
Charman, Tony
Elsabbagh, Mayada
Johnson, Mark H.
Hill, Elisabeth L.
CA BASIS Team
TI Motor development in children at risk of autism: A follow-up study of
infant siblings
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; motor development; infant siblings; broader
autism phenotype; face processing
ID BRUININKS-OSERETSKY TEST; HIGH-FUNCTIONING AUTISM; COORDINATION
DISORDER; SPECTRUM DISORDERS; MOVEMENT-ABC; SHORT-FORM; IMPAIRMENT;
SKILLS; FACE; IDENTIFICATION
AB Recently, evidence of poor or atypical motor skills in autism spectrum disorder has led some to argue that motor impairment is a core feature of the condition. The current study uses a longitudinal prospective design to assess the development of motor skills of 20 children at increased risk of developing autism spectrum disorder, who were recruited and tested at 9 and 40 months of age, on the basis of having an older sibling diagnosed with the condition. All children completed a range of motor, face processing, IQ and diagnostic assessments at a follow-up visit (aged 5-7 years), providing a detailed profile of development in this group from a number of standardised, parental report and experimental measures. A higher proportion of children than expected demonstrated motor difficulties at the follow-up visit and those highlighted by parental report as having poor motor skills as infants and toddlers were also more likely to have lower face processing scores and elevated autism-related social symptoms at 5-7 years, despite having similar IQ levels. These data lend support to the argument that early motor difficulties may be a risk factor for later motor impairment as well as differences in social communication and cognition, traits that are related to autism spectrum disorder.
C1 [Leonard, Hayley C.; Hill, Elisabeth L.] Univ London, London SE14 6NW, England.
[Bedford, Rachael; Charman, Tony] Kings Coll London, Inst Psychiat, London WC2R 2LS, England.
[Elsabbagh, Mayada] McGill Univ, Montreal, PQ, Canada.
[Johnson, Mark H.] Univ London, London WC1E 7HU, England.
RP Leonard, HC (reprint author), Univ London, Dept Psychol, London SE14 6NW, England.
EM h.leonard@gold.ac.uk
RI Charman, Tony/A-2085-2014
OI Charman, Tony/0000-0003-1993-6549
CR Adolphs R, 2001, J COGNITIVE NEUROSCI, V13, P232, DOI 10.1162/089892901564289
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Baranek GT, 1999, J AUTISM DEV DISORD, V29, P213, DOI 10.1023/A:1023080005650
Bhat A. N., 2011, PHYS THER, V7, P1
Brian J, 2008, AUTISM, V12, P433, DOI 10.1177/1362361308094500
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Bruininks BD, 2005, BRUININKS OSERETSKY
Cairney J, 2009, CHILD CARE HLTH DEV, V35, P402, DOI 10.1111/j.1365-2214.2009.00957.x
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Constantino JN, 2010, AM J PSYCHIAT, V167, P1349, DOI 10.1176/appi.ajp.2010.09101470
Constantino JN, 2005, SOCIAL RESPONSIVENES
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NR 55
TC 3
Z9 3
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD APR
PY 2014
VL 18
IS 3
BP 281
EP 291
DI 10.1177/1362361312470037
PG 11
WC Psychology, Developmental
SC Psychology
GA AD7OY
UT WOS:000333454700009
PM 24101718
ER
PT J
AU Haven, EL
Manangan, CN
Sparrow, JK
Wilson, BJ
AF Haven, Erin L.
Manangan, Christen N.
Sparrow, Joanne K.
Wilson, Beverly J.
TI The relation of parent-child interaction qualities to social skills in
children with and without autism spectrum disorders
SO AUTISM
LA English
DT Article
DE social skills; parent-child interactions; autism spectrum disorders
ID HIGH-FUNCTIONING AUTISM; YOUNG-CHILDREN; COMPETENCE; RECOMMENDATIONS;
INTERVENTIONS; EXPRESSION; BEHAVIORS; MEDIATION; EMOTION; FAMILY
AB This study examined associations between parent-child interactions and the development of social skills in 42 children (21 typically developing and 21 with autism spectrum disorders) between the ages of 3 years, 0 months and 6 years, 11 months. We expected that positive parent-child interaction qualities would be related to children's social skills and would mediate the negative relation between children's developmental status (typical development vs autism spectrum disorders) and social skills. Videotapes of parents and children during a 5-min wordless book task were coded for parent positive affect and emotional support as well as parent-child cohesiveness. Emotional support and cohesiveness were significantly related to children's social skills, such that higher emotional support and cohesiveness were associated with higher social skills, R-2 = .29, p = .02, and R-2 = .38, p = .002, respectively. Additionally, cohesiveness mediated the relation between children's developmental status and social skills. These findings suggest that parent emotional support and cohesiveness between parents and children positively influence children's social skills. Parent positive affect was unrelated to social skills. Implications of these findings for social skills interventions are discussed, particularly for young children with autism spectrum disorders.
C1 [Haven, Erin L.; Manangan, Christen N.; Sparrow, Joanne K.; Wilson, Beverly J.] Seattle Pacific Univ, Seattle, WA 98119 USA.
RP Haven, EL (reprint author), Seattle Pacific Univ, Dept Clin Psychol, 3307 3rd Ave West Suite 107, Seattle, WA 98119 USA.
EM ehaven@spu.edu
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Zhou Q, 2002, CHILD DEV, V73, P893, DOI 10.1111/1467-8624.00446
NR 40
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD APR
PY 2014
VL 18
IS 3
BP 292
EP 300
DI 10.1177/1362361312470036
PG 9
WC Psychology, Developmental
SC Psychology
GA AD7OY
UT WOS:000333454700010
PM 24072662
ER
PT J
AU Begeer, S
De Rosnay, M
Lunenburg, P
Stegge, H
Terwogt, MM
AF Begeer, Sander
De Rosnay, Marc
Lunenburg, Patty
Stegge, Hedy
Terwogt, Mark Meerum
TI Understanding of emotions based on counterfactual reasoning in children
with autism spectrum disorders
SO AUTISM
LA English
DT Article
DE upward; relief; counterfactual; downward; emotion; regret; autism
ID HIGH-FUNCTIONING CHILDREN; FALSE BELIEF; AGE-DIFFERENCES; THINKING;
REGRET; DISAPPOINTMENT; DISSOCIATION; PRESCHOOLERS; EXPERIENCE; LOOKING
AB The understanding of emotions based on counterfactual reasoning was studied in children with high-functioning autism spectrum disorders (n = 71) and in typically developing children (n = 71), aged 6-12 years. Children were presented with eight stories about two protagonists who experienced the same positive or negative outcome, either due to their own action or by default. Relative to the comparison group, children with high-functioning autism spectrum disorder were poor at explaining emotions based on downward counterfactual reasoning (i.e. contentment and relief). There were no group differences in upward counterfactual reasoning (i.e. disappointment and regret). In the comparison group, second-order false-belief reasoning was related to children's understanding of second-order counterfactual emotions (i.e. regret and relief), while children in the high-functioning autism spectrum disorder group relied more on their general intellectual skills. Results are discussed in terms of the different functions of counterfactual reasoning about emotion and the cognitive style of children with high-functioning autism spectrum disorder.
C1 [Begeer, Sander; Lunenburg, Patty; Stegge, Hedy; Terwogt, Mark Meerum] Vrije Univ Amsterdam, Amsterdam, Netherlands.
[Begeer, Sander; De Rosnay, Marc] Univ Sydney, Sydney, NSW 2006, Australia.
RP Begeer, S (reprint author), Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
EM sander.begeer@sydney.edu.au
CR (APA) APA, 2000, DIAGN STAT MAN MENT
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NR 41
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD APR
PY 2014
VL 18
IS 3
BP 301
EP 310
DI 10.1177/1362361312468798
PG 10
WC Psychology, Developmental
SC Psychology
GA AD7OY
UT WOS:000333454700011
PM 23223362
ER
PT J
AU Nahmias, AS
Kase, C
Mandell, DS
AF Nahmias, Allison S.
Kase, Colleen
Mandell, David S.
TI Comparing cognitive outcomes among children with autism spectrum
disorders receiving community-based early intervention in one of three
placements
SO AUTISM
LA English
DT Article
DE inclusion; autism spectrum disorders; preschool; early intervention;
community practices
ID INTENSIVE BEHAVIORAL INTERVENTION; YOUNG-CHILDREN; COMMUNICATION
INTERVENTIONS; JOINT ATTENTION; FOLLOW-UP; PRESCHOOLERS; DISABILITIES;
CLASSROOMS; SEVERITY; LANGUAGE
AB Little comparative research examines which community-based preschool intervention placements produce the best outcomes for which children with autism spectrum disorders. Autism-specific placements can provide intensive evidence-based care; however, inclusion settings provide interaction with typically developing peers, the importance of which is increasingly recognized. This study examined the association between early intervention placement in three settings (autism-only, mixed disability, or inclusive) and cognitive outcomes upon entry into elementary school in an urban school district for 98 preschool-aged children with autism spectrum disorders. Initial child and demographic characteristics were similar among the three placements. Controlling for initial cognitive scores and other covariates, cognitive outcomes for children in inclusive placements were better than those of children in mixed disability settings. A consistent pattern emerged that suggested the particular importance of inclusive placements for children with initially greater social impairments, greater adaptive behavior impairments, and at least a baseline level of language skills. Opportunities to interact with typically developing peers may be particularly beneficial for certain subgroups of young children with autism spectrum disorders. The results provide preliminary insight into important child characteristics to consider when parents and providers make preschool early intervention placement decisions.
C1 [Nahmias, Allison S.; Kase, Colleen] Univ Penn, Philadelphia, PA 19104 USA.
[Mandell, David S.] Univ Penn, Sch Med, Philadelphia, PA 19104 USA.
RP Nahmias, AS (reprint author), Univ Penn, Dept Psychol, 3720 Walnut St, Philadelphia, PA 19104 USA.
EM asn2@sas.upenn.edu
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
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NR 44
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD APR
PY 2014
VL 18
IS 3
BP 311
EP 320
DI 10.1177/1362361312467865
PG 10
WC Psychology, Developmental
SC Psychology
GA AD7OY
UT WOS:000333454700012
PM 23188885
ER
PT J
AU Burke, JP
Jain, A
Yang, WY
Kelly, JP
Kaiser, M
Becker, L
Lawer, L
Newschaffer, CJ
AF Burke, James P.
Jain, Anjali
Yang, Wenya
Kelly, Jonathan P.
Kaiser, Marygrace
Becker, Laura
Lawer, Lindsay
Newschaffer, Craig J.
TI Does a claims diagnosis of autism mean a true case?
SO AUTISM
LA English
DT Article
DE validation study; autism; Administrative data; chart review
ID SPECTRUM DISORDERS; PSYCHIATRIC-DISORDERS; INSURED POPULATION; HEALTH
PLAN; CHILDREN; MEDICAID; EXPENDITURES; VALIDATION; VALIDITY;
SURVEILLANCE
AB The purpose of this study was to validate autism spectrum disorder cases identified through claims-based case identification algorithms against a clinical review of medical charts. Charts were reviewed for 432 children who fell into one of the three following groups: (a) more than or equal to two claims with an autism spectrum disorder diagnosis code (n = 182), (b) one claim with an autism spectrum disorder diagnosis code (n = 190), and (c) those who had no claims for autism spectrum disorder but had claims for other developmental or neurological conditions (n = 60). The algorithm-based diagnoses were compared with documented autism spectrum disorders in the medical charts. The algorithm requiring more than or equal to two claims for autism spectrum disorder generated a positive predictive value of 87.4%, which suggests that such an algorithm is a valid means to identify true autism spectrum disorder cases in claims data.
C1 [Burke, James P.; Becker, Laura] OptumInsight, Eden Prairie, MN USA.
[Jain, Anjali; Yang, Wenya; Kelly, Jonathan P.] Lewin Grp, Falls Church, VA 22042 USA.
[Kaiser, Marygrace] Eureka Coll, Eureka, CA USA.
[Lawer, Lindsay; Newschaffer, Craig J.] Drexel Univ, Sch Publ Hlth, Philadelphia, PA USA.
RP Jain, A (reprint author), Lewin Grp, 3130 Fairview Pk Dr 500, Falls Church, VA 22042 USA.
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NR 25
TC 5
Z9 5
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD APR
PY 2014
VL 18
IS 3
BP 321
EP 330
DI 10.1177/1362361312467709
PG 10
WC Psychology, Developmental
SC Psychology
GA AD7OY
UT WOS:000333454700013
PM 23739541
ER
PT J
AU Kara, B
Mukaddes, NM
Altinkaya, I
Guntepe, D
Gokcay, G
Ozmen, M
AF Kara, Bulent
Mukaddes, Nahit Motavalli
Altinkaya, Isilay
Guentepe, Dilek
Gokcay, Gulbin
Ozmen, Meral
TI Using the Modified Checklist for Autism in Toddlers in a well-child
clinic in Turkey: Adapting the screening method based on culture and
setting
SO AUTISM
LA English
DT Article
DE autism; Modified Checklist for Autism in Toddlers; pervasive
developmental disorders; screening
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; YOUNG-CHILDREN;
QUESTIONNAIRE; DIAGNOSIS
AB We aimed to adapt the Modified Checklist for Autism in Toddlers to Turkish culture. The Modified Checklist for Autism in Toddlers was filled out independently by 191 parents while they were waiting for the well-child examination of their child. A high screen-positive rate was found. Because of this high false-positive rate, a second study was done in which the Modified Checklist for Autism in Toddlers was administered by health-care staff in a short interview with two groups of parents. The first group (the high-risk group) comprised 80 children aged 18-36 months, who were initially diagnosed with pervasive developmental disorders. The second group (the low-risk group) comprised 538 children of the same age, who were followed regularly by the well-child clinic. Two screen positives were found in the low-risk group. These two children, a random sample of 120 children from the low-risk group, and all the high-risk group were invited to a clinical evaluation. The diagnostic power of the Modified Checklist for Autism in Toddlers was assessed against clinical diagnosis and the Childhood Autism Rating Scale. The positive predictive value of the Modified Checklist for Autism in Toddlers was found to be 75%. Our findings led us to conclude that the Modified Checklist for Autism in Toddlers is a useful tool in Turkey for screening of pervasive developmental disorders in primary care, but in our culture, it is completed more accurately when health-care personnel ask the parents the questions. This study shows that Modified Checklist for Autism in Toddlers screening should be adapted based on culture and setting.
C1 [Kara, Bulent] Kocaeli Univ, Kocaeli, Turkey.
[Mukaddes, Nahit Motavalli; Altinkaya, Isilay; Guentepe, Dilek; Gokcay, Gulbin; Ozmen, Meral] Istanbul Univ, TR-34390 Istanbul, Turkey.
RP Mukaddes, NM (reprint author), Istanbul Univ, Dept Child & Adolescent Psychiat, Istanbul Sch Med, Valikonagi Cad 106 D 13 Nisantasi, TR-34390 Istanbul, Turkey.
EM nmotavalli@yahoo.com
CR (APA) APA, 2000, DIAGN STAT MAN MENT
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NR 24
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD APR
PY 2014
VL 18
IS 3
BP 331
EP 338
DI 10.1177/1362361312467864
PG 8
WC Psychology, Developmental
SC Psychology
GA AD7OY
UT WOS:000333454700014
PM 23175752
ER
PT J
AU Tebbenkamp, ATN
Willsey, AJ
State, MW
Sestan, N
AF Tebbenkamp, Andrew T. N.
Willsey, A. Jeremy
State, Matthew W.
Sestan, Nenad
TI The developmental transcriptome of the human brain: implications for
neurodevelopmental disorders
SO CURRENT OPINION IN NEUROLOGY
LA English
DT Article
DE autism spectrum disorder; gene co-expression analysis; genetics;
psychiatric and neurologic disorders; schizophrenia; Williams syndrome
ID AUTISM SPECTRUM DISORDERS; DE-NOVO MUTATIONS; HUMAN PREFRONTAL CORTEX;
COPY NUMBER VARIATION; GENE-EXPRESSION; FUNCTIONAL IMPACT;
SCHIZOPHRENIA; RISK; REVEALS; ASSOCIATION
AB Purpose of reviewRecent characterizations of the transcriptome of the developing human brain by several groups have generated comprehensive datasets on coding and noncoding RNAs that will be instrumental for illuminating the underlying biology of complex neurodevelopmental disorders. This review summarizes recent studies successfully utilizing these data to increase our understanding of the molecular mechanisms of pathogenesis.Recent findingsSeveral approaches have successfully integrated developmental transcriptome data with gene discovery to generate testable hypotheses about when and where in the developing human brain disease-associated genes converge. Specifically, these include the projection neurons in the prefrontal and primary motor--somatosensory cortex during mid-fetal development in autism spectrum disorder and the frontal cortex during fetal development in schizophrenia.SummaryDevelopmental transcriptome data is a key to interpreting disease-associated mutations and transcriptional changes. Novel approaches integrating the spatial and temporal dimensions of these data have increased our understanding of when and where disease occurs. Refinement of spatial and temporal properties and expanding these findings to other neurodevelopmental disorders will provide critical insights for understanding disease biology.
C1 [Tebbenkamp, Andrew T. N.; Sestan, Nenad] Yale Univ, Sch Med, Dept Neurobiol, New Haven, CT 06510 USA.
[Tebbenkamp, Andrew T. N.; Sestan, Nenad] Yale Univ, Sch Med, Kavli Inst Neurosci, New Haven, CT 06510 USA.
[Willsey, A. Jeremy] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA.
[Willsey, A. Jeremy; State, Matthew W.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA 94143 USA.
RP Sestan, N (reprint author), Yale Univ, Sch Med, Dept Neurobiol, 333 Cedar St C-323C, New Haven, CT 06510 USA.
EM matthew.state@ucsf.edu; nenad.sestan@yale.edu
FU National Institute of Mental Health [MH089956, MH081896]; Simons
Foundation; Overlook International Foundation; Kavli Foundation; James
S. McDonnell Foundation; Foster-Davis Foundation Inc.; Canadian
Institutes of Health Research
FX The authors acknowledge financial support from the National Institute of
Mental Health (MH089956 to M. W. S., MH081896 to N.S.), the Simons
Foundation (to M. W. S. and N.S.), the Overlook International Foundation
(to M. W. S. and N.S.), the Kavli Foundation (to N.S.), the James S.
McDonnell Foundation (to N.S.), the Foster-Davis Foundation Inc. (NARSAD
DI to N.S.), and the Canadian Institutes of Health Research (Doctoral
Foreign Study Award to A.J.W.).
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NR 50
TC 8
Z9 8
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 1350-7540
EI 1473-6551
J9 CURR OPIN NEUROL
JI Curr. Opin. Neurol.
PD APR
PY 2014
VL 27
IS 2
BP 149
EP 156
DI 10.1097/WCO.0000000000000069
PG 8
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AD5KE
UT WOS:000333290500003
PM 24565942
ER
PT J
AU Braat, S
Kooy, RF
AF Braat, Sien
Kooy, R. Frank
TI Fragile X syndrome neurobiology translates into rational therapy
SO DRUG DISCOVERY TODAY
LA English
DT Review
ID FMR1 KO MICE; LONG-TERM DEPRESSION; MENTAL-RETARDATION PROTEIN;
TYROSINE-PHOSPHATASE STEP; MOUSE MODEL; METABOTROPIC GLUTAMATE; KNOCKOUT
MICE; SYNAPTIC PLASTICITY; AUDIOGENIC-SEIZURES; GENETIC REDUCTION
AB Causal genetic defects have been identified for various neurodevelopmental disorders. A key example in this respect is fragile X syndrome, one of the most frequent genetic causes of intellectual disability and autism. Since the discovery of the causal gene, insights into the underlying pathophysiological mechanisms have increased exponentially. Over the past years, defects were discovered in pathways that are potentially amendable by pharmacological treatment. These findings have inspired the initiation of clinical trials in patients. The targeted pathways converge in part with those of related neurodevelopmental disorders raising hopes that the treatments developed for this specific disorder might be more broadly applicable.
C1 [Braat, Sien; Kooy, R. Frank] Univ Antwerp, Dept Med Genet, B-2020 Antwerp, Belgium.
RP Kooy, RF (reprint author), Univ Antwerp, Dept Med Genet, Prins Boudewijnlaan 43, B-2020 Antwerp, Belgium.
EM frank.kooy@uantwerpen.be
FU FRAXA; Fondation Jerome Lejeune; Agency for Innovation by Science and
Technology (IWT); FWO (Fonds Wetenschappelijk Onderzoek)
FX Our research on fragile X syndrome is funded by grants from FRAXA, FWO
(Fonds Wetenschappelijk Onderzoek) and Fondation Jerome Lejeune to
R.F.K. and a PhD grant from the Agency for Innovation by Science and
Technology (IWT) to S.B.
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NR 101
TC 5
Z9 5
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1359-6446
EI 1878-5832
J9 DRUG DISCOV TODAY
JI Drug Discov. Today
PD APR
PY 2014
VL 19
IS 4
BP 510
EP 519
DI 10.1016/j.drudis.2014.01.013
PG 10
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AH5UL
UT WOS:000336196500021
PM 24508819
ER
PT J
AU Washington, SD
Gordon, EM
Brar, J
Warburton, S
Sawyer, AT
Wolfe, A
Mease-Ference, ER
Girton, L
Hailu, A
Mbwana, J
Gaillard, WD
Kalbfleisch, ML
VanMeter, JW
AF Washington, Stuart D.
Gordon, Evan M.
Brar, Jasmit
Warburton, Samantha
Sawyer, Alice T.
Wolfe, Amanda
Mease-Ference, Erin R.
Girton, Laura
Hailu, Ayichew
Mbwana, Juma
Gaillard, William D.
Kalbfleisch, M. Layne
VanMeter, John W.
TI Dysmaturation of the Default Mode Network in Autism
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE autism; default mode network; functional connectivity; development;
Theory of Mind; synaptogenesis
ID INDEPENDENT COMPONENT ANALYSIS; FUNCTIONAL CONNECTIVITY; BRAIN
CONNECTIVITY; SPECTRUM DISORDER; MIND HYPOTHESIS; CHILDREN; FMRI;
MEMORY; UNDERCONNECTIVITY; ACTIVATION
AB Two hypotheses of autism spectrum disorder (ASD) propose that this condition is characterized by deficits in Theory of Mind and by hypoconnectivity between remote cortical regions with hyperconnectivity locally. The default mode network (DMN) is a set of remote, functionally connected cortical nodes less active during executive tasks than at rest and is implicated in Theory of Mind, episodic memory, and other self-reflective processes. We show that children with ASD have reduced connectivity between DMN nodes and increased local connectivity within DMN nodes and the visual and motor resting-state networks. We show that, like the trajectory of synaptogenesis, internodal DMN functional connectivity increased as a quadratic function of age in typically developing children, peaking between, 11 and 13 years. In children with ASD, these long-distance connections fail to develop during adolescence. These findings support the developmental disconnection model of ASD, provide a possible mechanistic explanation for the Theory-of-Mind hypothesis of ASD, and show that the window for effectively treating ASD could be wider than previously thought. Hum Brain Mapp 35:1284-1296, 2014. (c) 2013 Wiley Periodicals, Inc.
C1 [Washington, Stuart D.; Brar, Jasmit; Warburton, Samantha; Sawyer, Alice T.; Wolfe, Amanda; Mease-Ference, Erin R.; Girton, Laura; Hailu, Ayichew; Mbwana, Juma; Kalbfleisch, M. Layne; VanMeter, John W.] Georgetown Univ, Med Ctr, Ctr Funct & Mol Imaging, Washington, DC 20057 USA.
[Washington, Stuart D.; Brar, Jasmit; Warburton, Samantha; Sawyer, Alice T.; Wolfe, Amanda; Mease-Ference, Erin R.; Girton, Laura; Hailu, Ayichew; Mbwana, Juma; VanMeter, John W.] Georgetown Univ, Med Ctr, Dept Neurol, Washington, DC 20057 USA.
[Washington, Stuart D.; Gaillard, William D.] Childrens Natl Med Ctr, Washington, DC 20010 USA.
[Gordon, Evan M.] Georgetown Univ, Med Ctr, Interdisciplinary Program Neurosci, Washington, DC 20057 USA.
[Kalbfleisch, M. Layne] Krasnow Invest Dev Learning & Behav, Fairfax, VA USA.
RP Washington, SD (reprint author), Georgetown Univ, Med Ctr, Room LM14,Preclin Sci Bldg,3900 Reservoir Rd NW, Washington, DC 20057 USA.
EM sdw4@georgetown.edu; jwv5@georgetown.edu
FU NICHD [T32HD046388]; STAART (Johns Hopkins University's Kennedy-Krieger
Institute) [NIH/NIMH IU54MH066417-01]; Intellectual and Developmental
Disorders Research Center [NIH/NICHD 2P30HD040677-06]; Georgetown
General Clinical Research Center [NIH/NCRR 5M01RR023942-03]
FX Contract grant sponsor: NICHD; Contract grant number: T32HD046388 (Dr.
Washington by way of a post-doctoral training award, V. G.); Contract
grant sponsor: STAART (Johns Hopkins University's Kennedy-Krieger
Institute); Contract grant number: NIH/NIMH IU54MH066417-01, R. L.);
Contract grant sponsor: Intellectual and Developmental Disorders
Research Center; Contract grant number: NIH/NICHD 2P30HD040677-06;
Contract grant sponsor: Georgetown General Clinical Research Center;
Contract grant number: NIH/NCRR 5M01RR023942-03
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NR 61
TC 16
Z9 17
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1065-9471
EI 1097-0193
J9 HUM BRAIN MAPP
JI Hum. Brain Mapp.
PD APR
PY 2014
VL 35
IS 4
BP 1284
EP 1296
DI 10.1002/hbm.22252
PG 13
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AE9MP
UT WOS:000334332200016
PM 23334984
ER
PT J
AU Kuo, HC
Wu, CM
Chang, WP
Kuo, CN
Yeter, D
Lin, CY
Pai, JT
Chi, YC
Lin, CH
Wang, LJ
Chang, WC
AF Kuo, Ho-Chang
Wu, Chung-Min
Chang, Wei-Pin
Kuo, Chun-Nan
Yeter, Deniz
Lin, Chun-Yi
Pai, Jei-Tsung
Chi, Ying-Chen
Lin, Chia-Hsien
Wang, Liang-Jen
Chang, Wei-Chiao
TI Association between Kawasaki Disease and Autism: A Population-Based
Study in Taiwan
SO INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
LA English
DT Article
DE Kawasaki disease; autism; population-based study; Taiwan population
ID IMMUNOGLOBULIN TREATMENT FAILURE; SPECTRUM DISORDER; DIAGNOSIS; CHILDREN
AB Objective: The association between Kawasaki disease and autism has rarely been studied in Asian populations. By using a nationwide Taiwanese population-based claims database, we tested the hypothesis that Kawasaki disease may increase the risk of autism in Taiwan. Materials and Methods: Our study cohort consisted of patients who had received the diagnosis of Kawasaki disease (ICD-9-CM: 446.1) between 1997 and 2005 (N = 563). For a comparison cohort, five age- and gender-matched control patients for every patient in the study cohort were selected using random sampling (N = 2,815). All subjects were tracked for 5 years from the date of cohort entry to identify whether they had developed autism (ICD-9-CM code 299.0) or not. Cox proportional hazard regressions were then performed to evaluate 5-year autism-free survival rates. Results: The main finding of this study was that patients with Kawasaki disease seem to not be at increased risk of developing autism. Of the total patients, four patients developed autism during the 5-year follow-up period, among whom two were Kawasaki disease patients and two were in the comparison cohort. Further, the adjusted hazard ratios (AHR) (AHR: 4.81; 95% confidence interval: 0.68-34.35; P = 0.117) did not show any statistical significance between the Kawasaki disease group and the control group during the 5-year follow-up. Conclusion: Our study indicated that patients with Kawasaki disease are not at increased risk of autism.
C1 [Kuo, Ho-Chang] Kaohsiung Chang Gung Mem Hosp, Dept Pediat, Kaohsiung 833, Taiwan.
[Kuo, Ho-Chang; Wang, Liang-Jen] Chang Gung Univ, Coll Med, Kaohsiung 833, Taiwan.
[Wu, Chung-Min] Natl Taipei Univ Technol, Dept Business Management, Taipei 106, Taiwan.
[Chang, Wei-Pin; Lin, Chun-Yi; Pai, Jei-Tsung] Yuanpei Univ, Dept Healthcare Management, Hsinchu 300, Taiwan.
[Kuo, Chun-Nan; Chang, Wei-Chiao] Taipei Med Univ, Sch Pharm, Dept Clin Pharm, Taipei 110, Taiwan.
[Chi, Ying-Chen] Taipei City Hosp, Dept Educ & Res, Taipei 106, Taiwan.
[Lin, Chia-Hsien] Kainan Univ, Sch Hlth Care Management, Dept Hlth Ind Management, Taoyuan 338, Taiwan.
[Wang, Liang-Jen] Kaohsiung Chang Gung Mem Hosp, Dept Child & Adolescent Psychiat, Kaohsiung 833, Taiwan.
[Kuo, Chun-Nan; Chang, Wei-Chiao] Taipei Med Univ, Wan Fang Hosp, Dept Pharm, Taipei 116, Taiwan.
[Chang, Wei-Chiao] Taipei Med Univ, Sch Pharm, Master Program Clin Pharmacogen & Pharmacoprote, Taipei 110, Taiwan.
[Chang, Wei-Chiao] Kaohsiung Med Univ, Kaohsiung Med Univ Hosp, Ctr Canc, Kaohsiung 807, Taiwan.
RP Wang, LJ (reprint author), Kaohsiung Chang Gung Mem Hosp, Dept Child & Adolescent Psychiat, Kaohsiung 833, Taiwan.
EM erickuo48@yahoo.com.tw; cmwu@ntut.edu.tw; wpchang@mail.ypu.edu.tw;
rencouter@gmail.com; deniz.yeter@gmx.de; elaine_lin76@ymail.com;
reitrong@mail.ypu.edu.tw; a0130@tpech.gov.tw; g870615@gmail.com;
wangliangjen@gmail.com; wcc@tmu.edu.tw
FU National Taipei University of Technology [NTUT-TMU-102-16,
NTUT-TMU-103-14]; Taipei Medical University [NTUT-TMU-102-16,
NTUT-TMU-103-14]; National Science Council, Taiwan [NSC
102-2314-B-182-053-MY3]; Chang Gung Memorial Hospital [CMRPG8C1081,
CMRPG8B0211]
FX This study was supported by the National Taipei University of Technology
and Taipei Medical University Join Research Grants (NTUT-TMU-102-16 and
NTUT-TMU-103-14). And grant from the National Science Council, Taiwan
(NSC 102-2314-B-182-053-MY3) and grant from Chang Gung Memorial Hospital
(CMRPG8C1081 and CMRPG8B0211).
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NR 29
TC 1
Z9 1
PU MDPI AG
PI BASEL
PA POSTFACH, CH-4005 BASEL, SWITZERLAND
SN 1660-4601
J9 INT J ENV RES PUB HE
JI Int. J. Environ. Res. Public Health
PD APR
PY 2014
VL 11
IS 4
BP 3705
EP 3716
DI 10.3390/ijerph110403705
PG 12
WC Environmental Sciences
SC Environmental Sciences & Ecology
GA AG9TM
UT WOS:000335762700015
PM 24705358
ER
PT J
AU Koegel, LK
Singh, AK
Koegel, RL
Hollingsworth, JR
Bradshaw, J
AF Koegel, Lynn Kern
Singh, Anjileen K.
Koegel, Robert L.
Hollingsworth, Jessica R.
Bradshaw, Jessica
TI Assessing and Improving Early Social Engagement in Infants
SO JOURNAL OF POSITIVE BEHAVIOR INTERVENTIONS
LA English
DT Article
DE infants; social intervention; autism spectrum disorder; early
intervention
ID AUTISM SPECTRUM DISORDER; LOW-BIRTH-WEIGHT; JOINT ATTENTION;
PRESCHOOL-CHILDREN; COMMUNICATION; INTERVENTION; TEMPERAMENT; RISK;
TODDLERS; BEHAVIOR
AB Empirical studies have documented a variety of social abnormalities in infancy that indicate risk for later social and behavioral difficulties. There is very little research illustrating the presence of such behavioral vulnerabilities with frequent repeated measures, and the feasibility of designing interventions for improving social engagement in infants less than 1 year of age. In the context of a multiple baseline research design, three young infants, ages 4, 7, and 9 months, referred for concerns about social engagement were assessed for affect, social interest, eye contact avoidance, and response to name. In addition, the feasibility of implementing an intervention to target social behaviors was examined. Results demonstrated that (a) consistently low or erratic levels of social behavior were evident throughout the baseline assessment period, (b) these patterns could be improved with a brief intervention (a modified Pivotal Response Treatment) showing an immediate increase and stability of social engagement, and (c) social engagement remained at a stable and high level at follow-up. The results are discussed in terms of implications of early assessment and intervention for clinical populations, including infants with autism spectrum disorder.
C1 [Koegel, Lynn Kern; Singh, Anjileen K.; Koegel, Robert L.; Hollingsworth, Jessica R.; Bradshaw, Jessica] Univ Calif Santa Barbara, Santa Barbara, CA 93106 USA.
RP Koegel, LK (reprint author), Univ Calif Santa Barbara, Grad Sch Educ, Koegel Autism Ctr, Counseling Clin & Sch Psychol Dept, Santa Barbara, CA 93106 USA.
EM lynnk@education.ucsb.edu
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NR 50
TC 2
Z9 2
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1098-3007
EI 1538-4772
J9 J POSIT BEHAV INTERV
JI J. Posit. Behav. Interv.
PD APR
PY 2014
VL 16
IS 2
BP 69
EP 80
DI 10.1177/1098300713482977
PG 12
WC Psychology, Clinical; Education, Special
SC Psychology; Education & Educational Research
GA AD8RK
UT WOS:000333533100002
ER
PT J
AU Davis, JM
AF Davis, J. M.
TI DUF1220 Dosage Is Linearly Associated with Increasing Severity of the
Three Primary Symptoms of Autism (vol 10, e1004241, 2014)
SO PLOS GENETICS
LA English
DT Correction
CR Davis JM, 2014, PLOS GENET, V10, DOI 10.1371/journal.pgen.1004241
NR 1
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1553-7390
EI 1553-7404
J9 PLOS GENET
JI PLoS Genet.
PD APR
PY 2014
VL 10
IS 4
AR e1004373
DI 10.1371/journal.pgen.1004373
PG 1
WC Genetics & Heredity
SC Genetics & Heredity
GA AG6AB
UT WOS:000335499600005
ER
PT J
AU Racine, SE
Culbert, KM
Burt, SA
Klump, KL
AF Racine, S. E.
Culbert, K. M.
Burt, S. A.
Klump, K. L.
TI Advanced paternal age at birth: phenotypic and etiologic associations
with eating pathology in offspring
SO PSYCHOLOGICAL MEDICINE
LA English
DT Article
DE Advanced paternal age; disordered eating; eating disorders;
environmental; genetic; twin study
ID AUTISM SPECTRUM DISORDERS; MODERATES GENETIC INFLUENCES; TWIN REGISTRY
MSUTR; DE-NOVO MUTATIONS; ANOREXIA-NERVOSA; MENTAL-DISORDERS;
BULIMIA-NERVOSA; PARENTAL AGE; YOUNG-WOMEN; RISK-FACTOR
AB Background Advanced paternal age at birth has been linked to several psychiatric disorders in offspring (e.g. schizophrenia) and genetic mechanisms are thought to underlie these associations. This study is the first to investigate whether advanced paternal age at birth is associated with eating disorder risk using a twin study design capable of examining both phenotypic and genetic associations.
Method In a large, population-based sample of female twins aged 8-17 years in mid-puberty or beyond (n=1722), we investigated whether advanced paternal age was positively associated with disordered eating symptoms and an eating disorder history [i.e. anorexia nervosa (AN), bulimia nervosa (BN) or binge eating disorder (BED)] in offspring. Biometric twin models examined whether genetic and/or environmental factors underlie paternal age effects for disordered eating symptoms.
Results Advanced paternal age was positively associated with disordered eating symptoms and an eating disorder history, where the highest level of pathology was observed in offspring born to fathers 40 years old. The results were not accounted for by maternal age at birth, body mass index (BMI), socio-economic status (SES), fertility treatment or parental psychiatric history. Twin models indicated decreased genetic, and increased environmental, effects on disordered eating with advanced paternal age.
Conclusions Advanced paternal age increased risk for the full spectrum of eating pathology, independent of several important covariates. However, contrary to leading hypotheses, environmental rather than genetic factors accounted for paternal age-disordered eating associations. These data highlight the need to explore novel (potentially environmental) mechanisms underlying the effects of advanced paternal age on offspring eating disorder risk.
C1 [Racine, S. E.; Burt, S. A.; Klump, K. L.] Michigan State Univ, Dept Psychol, E Lansing, MI 48824 USA.
[Culbert, K. M.] Univ Chicago, Dept Psychiat & Behav Neurosci, Chicago, IL 60637 USA.
RP Klump, KL (reprint author), Michigan State Univ, Dept Psychol, 316 Phys Rd 107B, E Lansing, MI 48824 USA.
EM klump@msu.edu
FU Michigan State University; Canadian Institutes of Health Research
[MDR-96630]; National Institute of Mental Health [5 T32 MH082761, 1 F31
MH0844701, 1 R01 MH0820-54, 1 R01 MH092377-01]
FX Data collection was supported by grants from Michigan State University
(K. L. Klump and S. A. Burt). Data analysis was supported by grants from
the Canadian Institutes of Health Research (MDR-96630; S. E. Racine) and
the National Institute of Mental Health (5 T32 MH082761 and 1 F31
MH0844701; K. M. Culbert; 1 R01 MH0820-54 and 1 R01 MH092377-01; K. L.
Klump and S. A. Burt). The content is solely the responsibility of the
authors and does not necessarily represent the official views of
Michigan State University, the Canadian Institutes of Health Research or
the National Institute of Mental Health.
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NR 68
TC 2
Z9 2
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0033-2917
EI 1469-8978
J9 PSYCHOL MED
JI Psychol. Med.
PD APR
PY 2014
VL 44
IS 5
BP 1029
EP 1041
DI 10.1017/S0033291713001426
PG 13
WC Psychology, Clinical; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AD0LU
UT WOS:000332926300013
PM 23795717
ER
PT J
AU Tye, C
Asherson, P
Ashwood, KL
Azadi, B
Bolton, P
McLoughlin, G
AF Tye, C.
Asherson, P.
Ashwood, K. L.
Azadi, B.
Bolton, P.
McLoughlin, G.
TI Attention and inhibition in children with ASD, ADHD and co-morbid ASD
plus ADHD: an event-related potential study
SO PSYCHOLOGICAL MEDICINE
LA English
DT Article
DE ADHD; ASD; children; co-morbidity; continuous performance test (CPT);
event-related potentials (ERPs)
ID DEFICIT-HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS; PERVASIVE
DEVELOPMENTAL DISORDERS; CONTINGENT NEGATIVE-VARIATION;
DEFICIT/HYPERACTIVITY DISORDER; EXECUTIVE FUNCTION; ENVIRONMENTAL
CONTRIBUTIONS; RESPONSE-INHIBITION; DIAGNOSTIC VALIDITY; CONDUCT
DISORDER
AB Background Substantial overlap has been reported between attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Deficits in executive function (EF) are characteristic of both disorders but these impairments have not been compared directly across pure and co-morbid cases using event-related potentials (ERPs).
Method Behavioural parameters and ERPs were recorded during a flankered cued-continuous performance test (CPT-OX) administered to 8-13-year-old boys with ASD (n=19), ADHD (n=18), co-morbid ASD+ADHD (n=29) and typically developing controls (TD; n=26). Preparatory processing (contingent negative variation, CNV) and attentional orienting (Cue-P3) at cues, response execution at targets (Go-P3), inhibitory processing at non-targets (NoGo-P3) and conflict monitoring between target and non-target trials (Go-N2 v. NoGo-N2) were examined.
Results Categorical diagnoses and quantitative trait measures indicated that participants with ADHD (ADHD/ASD+ADHD) made more omission errors and exhibited increased reaction-time (RT) variability and reduced amplitude of the Cue-P3 and NoGo-P3 compared to TD/ASD participants. Participants with ASD (ASD/ ASD+ADHD) demonstrated reduced N2 enhancement from Go to NoGo trials compared to TD/ADHD participants. Participants with ASD-only displayed enhanced CNV amplitude compared to ASD+ADHD and TD participants.
Conclusions Children with ADHD show deficits in attentional orienting and inhibitory control whereas children with ASD show abnormalities in conflict monitoring and response preparation. Children with co-morbid ASD+ADHD present as an additive co-occurrence with deficits of both disorders, although non-additive effects are suggested for response preparation. Measuring ERPs that index attention and inhibition is useful in disentangling cognitive markers of ASD and ADHD and elucidating the basis of co-occurring ASD+ADHD to guide clinical assessment.
C1 [Tye, C.; Asherson, P.; Bolton, P.; McLoughlin, G.] Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England.
[Tye, C.; Ashwood, K. L.; Azadi, B.; Bolton, P.] Kings Coll London, Inst Psychiat, London WC2R 2LS, England.
[McLoughlin, G.] Univ Calif San Diego, Inst Neural Computat, Swartz Ctr Computat Neurosci, San Diego, CA 92103 USA.
RP Tye, C (reprint author), Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, De Crespigny Pk, London SE5 8AF, England.
EM charlotte.tye@kcl.ac.uk
RI Bolton, Patrick/E-8501-2010
OI Bolton, Patrick/0000-0002-5270-6262
FU National Institute for Health Research (NIHR) Biomedical Research Centre
for Mental Health (BRC); Waterloo Foundation [G686984]; Steel Charitable
Trust [G38575208]; NIHR; BRC at the South London and Maudsley National
Health Service (NHS) Trust Hospital, London
FX We thank the participating families and all staff involved in this
study, in particular S. Cartwright, S. Lewis and S. Newman. This work
was supported by a grant from the National Institute for Health Research
(NIHR) Biomedical Research Centre for Mental Health (BRC), the Waterloo
Foundation (G686984) and the Steel Charitable Trust (G38575208).
Professor Bolton is supported by an NIHR Senior Investigator award and
the BRC at the South London and Maudsley National Health Service (NHS)
Trust Hospital, London.
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NR 87
TC 3
Z9 3
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0033-2917
EI 1469-8978
J9 PSYCHOL MED
JI Psychol. Med.
PD APR
PY 2014
VL 44
IS 5
BP 1101
EP 1116
DI 10.1017/S0033291713001049
PG 16
WC Psychology, Clinical; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AD0LU
UT WOS:000332926300019
PM 23673307
ER
PT J
AU Wong, BPH
Lam, SF
Leung, D
Ho, D
Au-Yeung, P
AF Wong, Bernard P. H.
Lam, Shui-fong
Leung, Doris
Ho, Daphne
Au-Yeung, Peter
TI The enhancement of community integration: Coping strategies of Chinese
parents of children with Autism Spectrum Disorders
SO SCHOOL PSYCHOLOGY INTERNATIONAL
LA English
DT Article
DE Autism spectrum disorders; Chinese; community integration; coping
strategies; Hong Kong; parental perception
ID HONG-KONG; INTELLECTUAL DISABILITIES; MOTHERS; PSYCHOLOGISTS;
PERCEPTIONS; STRESS
AB This study presents a collaborative research project by school psychologists and educators in Hong Kong. It investigated the coping strategies used by Chinese parents of children with Autism Spectrum Disorders (N=380) to enhance their children's community integration and how these strategies were related to their perceptions of community integration and willingness to engage their children in community activities. A factor analysis of questionnaire responses revealed three clusters of coping strategies: Constructive, avoidant, and confrontational strategies. Parents' willingness to engage their children in community activities was predicted positively by their use of constructive strategies but negatively by their use of avoidant strategies. Confrontational strategies had no predictive power. Parents who used constructive strategies often tended to report more positive emotions and perceive greater importance for engaging their children in community activities.
C1 [Wong, Bernard P. H.] Hong Kong Shue Yan Univ, Dept Counselling & Psychol, Hong Kong, Hong Kong, Peoples R China.
[Lam, Shui-fong] Univ Hong Kong, Dept Psychol, Hong Kong, Hong Kong, Peoples R China.
[Leung, Doris; Ho, Daphne; Au-Yeung, Peter] Heep Hong Soc, Hong Kong, Hong Kong, Peoples R China.
RP Wong, BPH (reprint author), Hong Kong Shue Yan Univ, Dept Counselling & Psychol, 10 Wai Tsui Crescent,Braemar Hill Rd, Hong Kong, Hong Kong, Peoples R China.
EM phwong@hksyu.edu
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NR 31
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0143-0343
EI 1461-7374
J9 SCHOOL PSYCHOL INT
JI Sch. Psychol. Int.
PD APR
PY 2014
VL 35
IS 2
BP 122
EP 135
DI 10.1177/0143034312469154
PG 14
WC Psychology, Educational
SC Psychology
GA AD1DR
UT WOS:000332974600002
ER
PT J
AU McLaughlin, J
AF McLaughlin, Janice
TI Digital Imagery and Child Embodiment in Paediatric Genetics: Sources and
Relationships of Meaning
SO SOCIOLOGY-THE JOURNAL OF THE BRITISH SOCIOLOGICAL ASSOCIATION
LA English
DT Article
DE children; digital imagery; genetics
ID AUTISM SPECTRUM DISORDERS; MEDICAL SOCIOLOGY; FETAL IMAGES;
ORGANIZATION; ULTRASOUND; POWER; BODY; PROFESSIONS; TECHNOLOGY;
KNOWLEDGE
AB Paediatric genetics involves multiple visually based diagnostic processes. While examining the external features of a child plays an important role, of increasing importance are biochemical analyses of blood, which produce digital diagrams that display variations in the shape and composition of chromosomes. The level of magnification and detail that can now be captured is allowing new patterns of variation to be seen' and possible diagnosis to be made, which were not possible before. However, this generates questions about whether these forms of genetic diagnosis and digital visualisation are increasing the scope of medicine to define the body as ill - regardless of whether symptoms are present. This article, drawing from research in a paediatric genetic service, cautions against giving too much power to digital imagery. It does so by arguing that the imagery is only one source of visualisation relevant to how the child's body is read and understood.
C1 Newcastle Univ, Policy Eth & Life Sci Res Ctr, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
RP McLaughlin, J (reprint author), Newcastle Univ, Policy Eth & Life Sci Res Ctr, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
EM janice.mclaughlin@ncl.ac.uk
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NR 68
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0038-0385
EI 1469-8684
J9 SOCIOLOGY
JI Sociol.-J. Brit. Sociol. Assoc.
PD APR
PY 2014
VL 48
IS 2
BP 216
EP 232
DI 10.1177/0038038512472774
PG 17
WC Sociology
SC Sociology
GA AE1XY
UT WOS:000333768300002
ER
PT J
AU Castellani, CA
Awamleh, Z
Melka, MG
O'Reilly, RL
Singh, SM
AF Castellani, Christina A.
Awamleh, Zain
Melka, Melkaye G.
O'Reilly, Richard L.
Singh, Shiva M.
TI Copy Number Variation Distribution in Six Monozygotic Twin Pairs
Discordant for Schizophrenia
SO TWIN RESEARCH AND HUMAN GENETICS
LA English
DT Article
DE monozygotic twins; discordance; schizophrenia; genomes; de novo; copy
number variations
ID GENOME-WIDE ASSOCIATION; AUTISM-SPECTRUM DISORDERS; BIPOLAR DISORDER;
GENE-EXPRESSION; DE-NOVO; STRUCTURAL VARIATION; CANDIDATE GENES;
NERVOUS-SYSTEM; RISK LOCI; VARIANTS
AB We have evaluated copy number variants (CNVs) in six monozygotic twin pairs discordant for schizophrenia. The data from Affymetrix (R) Human SNP 6.0 arrays were analyzed using Affymetrix (R) Genotyping Console, Partek (R) Genomics Suite, PennCNV, and Golden Helix SVS. This yielded both program-specific and overlapping results. Only CNVs called by Affymetrix Genotyping Console, Partek Genomics Suite, and PennCNV were used in further analysis. This analysis included an assessment of calls in each of the six twin pairs towards identification of unique CNVs in affected and unaffected co-twins. Real time polymerase chain reaction (PCR) experiments confirmed one CNV loss at 7q11.21 that was found in the affected patient but not in the unaffected twin. The results identified CNVs and genes that were previously implicated in mental abnormalities in four of the six twin pairs. It included PYY (twin pairs 1 and 5), EPHA3 (twin pair 3), KIAA1211L (twin pair 4), and GPR139 (twin pair 5). They represent likely candidate genes and CNVs for the discordance of four of the six monozygotic twin pairs for this heterogeneous neurodevelopmental disorder. An explanation for these differences is ontogenetic de novo events that differentiate in the monozygotic twins during development.
C1 [Castellani, Christina A.; Awamleh, Zain; Melka, Melkaye G.; Singh, Shiva M.] Univ Western Ontario, Dept Biol, London, ON N6A 5B7, Canada.
[O'Reilly, Richard L.] Univ Western Ontario, Dept Psychiat, London, ON N6A 5B7, Canada.
RP Singh, SM (reprint author), Univ Western Ontario, Dept Biol, London, ON N6A 5B7, Canada.
EM ssingh@uwo.ca
FU Canadian Institutes of Health Research (CIHR); Ontario Mental Health
Foundation (OMHF); Schizophrenia Society of Ontario
FX We wish to thank the individuals who participated in this study. We also
wish to thank Beth Locke and Dr Mark Daley for their computational
assistance. This work was supported by grants from the Canadian
Institutes of Health Research (CIHR), Ontario Mental Health Foundation
(OMHF), and Schizophrenia Society of Ontario. SS held Senior Research
Fellowship of OMHF during the course of this research.
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NR 82
TC 3
Z9 4
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 1832-4274
EI 1839-2628
J9 TWIN RES HUM GENET
JI Twin Res. Hum. Genet.
PD APR
PY 2014
VL 17
IS 2
BP 108
EP 120
DI 10.1017/thg.2014.6
PG 13
WC Genetics & Heredity; Obstetrics & Gynecology
SC Genetics & Heredity; Obstetrics & Gynecology
GA AD4EC
UT WOS:000333198800006
PM 24556202
ER
PT J
AU MacDonald, M
Lord, C
Ulrich, DA
AF MacDonald, Megan
Lord, Catherine
Ulrich, Dale A.
TI Motor Skills and Calibrated Autism Severity in Young Children With
Autism Spectrum Disorder
SO ADAPTED PHYSICAL ACTIVITY QUARTERLY
LA English
DT Article
DE autism; motor skills; young children; calibrated severity
ID DIAGNOSTIC OBSERVATION SCHEDULE; COMMUNICATION; INTERVENTION; TODDLERS;
BEHAVIOR; SIGNS
AB In addition to the core characteristics of autism spectrum disorder (ASD), motor skill deficits are present, persistent, and pervasive across age. Although motor skill deficits have been indicated in young children with autism, they have not been included in the primary discussion of early intervention content. One hundred fifty-nine young children with a confirmed diagnosis of ASD (n = 110), PDD-NOS (n = 26), and non-ASD (n = 23) between the ages of 14-33 months participated in this study.(1) The univariate general linear model tested the relationship of fine and gross motor skills and social communicative skills (using calibrated autism severity scores). Fine motor and gross motor skills significantly predicted calibrated autism severity (p < .05). Children with weaker motor skills have greater social communicative skill deficits. Future directions and the role of motor skills in early intervention are discussed.
C1 [MacDonald, Megan] Oregon State Univ, Exercise & Sport Sci Program, Corvallis, OR 97331 USA.
[Lord, Catherine] Weill Cornell Med Coll, White Plains, NY USA.
[Lord, Catherine] New York Presbyterian Hosp, White Plains, NY USA.
[Ulrich, Dale A.] Univ Michigan, Sch Kinesiol, Ann Arbor, MI 48109 USA.
RP MacDonald, M (reprint author), Oregon State Univ, Exercise & Sport Sci Program, Corvallis, OR 97331 USA.
EM megan.macdonald@oregonstate.edu
FU Simons Foundation; NICHD [U19 HD35482-01]; Neurobiology and Genetic of
Autism [06/01/97-05/31/07]; NIMH [RO1 MH081873-01A1]; Longitudinal
Studies of Autism Spectrum Disorders [09/01/08-05/31/13]; Blue Cross
Blue Shield Foundation of Michigan Grant Motor skills
FX Support for this project was provided in part from funding awarded to
Dr. Lord from the Simons Foundation, First Words, and the following
grants: NICHD U19 HD35482-01. The Neurobiology and Genetic of Autism.
06/01/97-05/31/07 (Lord). NIMH RO1 MH081873-01A1. Longitudinal Studies
of Autism Spectrum Disorders: 2 to 23. 09/01/08-05/31/13 (Lord). Blue
Cross Blue Shield Foundation of Michigan Grant Motor skills, calibrated
severity & autism number 1687.SAP (MacDonald).
CR American Psychiatric Association APA, 2013, DIAGN STAT MAN MENT, V5th
(APA) APA, 2000, DIAGN STAT MAN MENT
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NR 43
TC 0
Z9 0
PU HUMAN KINETICS PUBL INC
PI CHAMPAIGN
PA 1607 N MARKET ST, PO BOX 5076, CHAMPAIGN, IL 61820-2200 USA
SN 0736-5829
EI 1543-2777
J9 ADAPT PHYS ACT Q
JI Adapt. Phys. Act. Q.
PD APR
PY 2014
VL 31
IS 2
BP 95
EP 105
DI 10.1123/apaq.2013-0068
PG 11
WC Rehabilitation; Sport Sciences
SC Rehabilitation; Sport Sciences
GA AH2EM
UT WOS:000335934300001
PM 24762385
ER
PT J
AU Catmur, C
Press, C
Cook, R
Bird, G
Heyes, C
AF Catmur, Caroline
Press, Clare
Cook, Richard
Bird, Geoffrey
Heyes, Cecilia
TI Mirror neurons: Tests and testability
SO BEHAVIORAL AND BRAIN SCIENCES
LA English
DT Article
ID AUTISM-SPECTRUM-DISORDERS; VENTRAL PREMOTOR CORTEX; TRANSCRANIAL
MAGNETIC STIMULATION; BIOLOGICAL MOTION PERCEPTION; VOXEL
PATTERN-ANALYSIS; PRIMARY MOTOR CORTEX; INFERIOR FRONTAL GYRUS;
GOAL-DIRECTED ACTIONS; SIMPLE RESPONSE TASK; AUTOMATIC IMITATION
AB Commentators have tended to focus on the conceptual framework of our article, the contrast between genetic and associative accounts of mirror neurons, and to challenge it with additional possibilities rather than empirical data. This makes the empirically focused comments especially valuable. The mirror neuron debate is replete with ideas; what it needs now are system-level theories and careful experiments - tests and testability.
C1 [Catmur, Caroline] Univ Surrey, Dept Psychol, Guildford GU2 7XH, Surrey, England.
[Press, Clare] Univ London Birkbeck Coll, Dept Psychol Sci, London WC1E 7HX, England.
[Cook, Richard] City Univ London, Dept Psychol, London EC1R 0JD, England.
[Bird, Geoffrey] Kings Coll London, Inst Psychiat, Social Genet & Dev Psychiat Ctr MRC, London SE5 8AF, England.
[Heyes, Cecilia] Univ Oxford All Souls Coll, Oxford OX1 4AL, England.
[Heyes, Cecilia] Univ Oxford, Dept Expt Psychol, Oxford OX1 3UD, England.
RP Catmur, C (reprint author), Univ Surrey, Dept Psychol, Guildford GU2 7XH, Surrey, England.
EM c.catmur@surrey.ac.uk; c.press@bbk.ac.uk; Richard.Cook.1@city.ac.uk;
Geoff.Bird@kcl.ac.uk; Cecilia.heyes@all-souls.ox.ac.uk
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NR 644
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0140-525X
EI 1469-1825
J9 BEHAV BRAIN SCI
JI Behav. Brain Sci.
PD APR
PY 2014
VL 37
IS 2
BP 221
EP 241
DI 10.1017/S0140525X13002793
PG 21
WC Psychology, Biological; Behavioral Sciences; Neurosciences
SC Psychology; Behavioral Sciences; Neurosciences & Neurology
GA AH0QV
UT WOS:000335826100059
PM 24895752
ER
PT J
AU Martinez, G
Cook-Darzens, S
Chaste, P
Mouren, MC
Doyen, C
AF Martinez, G.
Cook-Darzens, S.
Chaste, P.
Mouren, M. -C.
Doyen, C.
TI Anorexia nervosa in the light of neurocognitive functioning: New
theoretical and therapeutic perspectives
SO ENCEPHALE-REVUE DE PSYCHIATRIE CLINIQUE BIOLOGIQUE ET THERAPEUTIQUE
LA French
DT Article
DE Anorexia nervosa; Cognitive science; Developmental disabilities;
Cognitive therapy; Imaging
ID AUTISM SPECTRUM DISORDERS; LOW BODY-WEIGHT; EATING-DISORDERS; EXECUTIVE
FUNCTIONS; CENTRAL COHERENCE; ONSET; ALEXITHYMIA; CHILDREN; WOMEN;
ENDOPHENOTYPE
AB Introduction. Anorexia nervosa is a serious psychiatric disorder, for which very few validated therapeutic strategies exist. The specific sociocognitive style of anorexic patients has already been described in the 1960s: it involves a concrete style with abstraction difficulties. Current neuropsychological tests have contributed to a more precise definition of these difficulties.
Neuropsychological data: is there a specific cognitive profile?. Contrary to common beliefs, these patients' intellectual performances are not superior to those of the general population. However, detailed comparisons of profiles on the Weschler Scales suggest difficulties in synthesizing information and better abilities in concrete problem solving.
Excessive attention to details.- The dominant hypothesis concerning the attentional dimension is the existence of a weakness in central coherence, resulting in superior detail processing and a weakness in global integration. This trend appears to be stable even after the normalization of nutritional status.
Impaired cognitive flexibility.- The impairment of set-shifting abilities leads to rigidity, expressed by inflexibility and perseveration, both in reasoning and behaviour. This reduced cognitive flexibility appears to persist after recovery, and may constitute a familial trait. In addition, this likely endophenotype seems to be independent from obsessional traits.
Controversial social skill.- Alexithymia is frequently described in anorexic individuals. It is the verbal description of feelings which seems to be particularly impaired. It may explain underlying difficulties in empathy. Indeed, these subjects have lower scores on emotional tests drawn from the theory of mind. These cognitive abnormalities are well documented in pervasive developmental disorders.
Neuroanatomical data: neuroimaging in support of limbic and fronto-striatal abnormalities. Evidence from neuroimaging suggests abnormalities in cortical and subcortical structures, involving the temporal and orbito-frontal lobes. Various functional hypotheses are formulated, involving fronto-striatothalamic circuits, amygdala or insula.
Is anorexia nervosa a developmental disorder?.- Pervasive developmental disorders are over-represented among anorexic subjects in comparison to the general population. Conversely, restrictive and selective eating disorders are more frequent among individuals presenting an autistic spectrum disorder.
Therapeutic implications and future directions.- In view of the common cognitive and neuroanatomical data that are found in anorexia nervosa and neurodevelopmental disorders, we adhere to the hypothesis that anorexia nervosa may be similar to a neurodevelopmental disorder. Clinical observations suggest that this hypothesis may be especially relevant in the early forms of anorexia nervosa. These cognitive data confirm the potential relevance of new therapeutic modalities such as cognitive remediation. Initial results from its application to anorexia nervosa seem promising.
Conclusion.- A review of the recent literature highlights the possible existence of a developmental impairment of cortical and subcortical structures, associated with specific abnormalities in cognitive development such as a weakness in central coherence, reduced set-shifting ability and poor social skills. On this basis, cognitive remediation may be a promising therapeutic innovation. (C) L'Encephale, Paris, 2013.
C1 [Martinez, G.; Cook-Darzens, S.; Chaste, P.; Mouren, M. -C.; Doyen, C.] Hop Robert Debre, Serv Psychopathol Enfant & Adolescent, F-75019 Paris, France.
[Martinez, G.; Cook-Darzens, S.; Chaste, P.; Mouren, M. -C.; Doyen, C.] Ctr Hosp St Anne, F-75014 Paris, France.
RP Doyen, C (reprint author), Hop Robert Debre, Serv Psychopathol Enfant & Adolescent, 48 Blvd Serurier, F-75019 Paris, France.
EM c.doyen@ch-sainte-anne.fr
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NR 50
TC 0
Z9 0
PU MASSON EDITEUR
PI MOULINEAUX CEDEX 9
PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE
SN 0013-7006
J9 ENCEPHALE
JI Enceph.-Rev. Psychiatr. Clin. Biol. Ther.
PD APR
PY 2014
VL 40
IS 2
BP 160
EP 167
DI 10.1016/j.encep.2012.06.004
PG 8
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AH0KI
UT WOS:000335807500010
PM 23541918
ER
PT J
AU Beherec, L
Quilici, G
Rosier, A
Gerardin, P
Campion, D
Guillin, O
AF Beherec, L.
Quilici, G.
Rosier, A.
Gerardin, P.
Campion, D.
Guillin, O.
TI Pharmacological treatments in patients with pervasive developmental
disorders: A review
SO ENCEPHALE-REVUE DE PSYCHIATRIE CLINIQUE BIOLOGIQUE ET THERAPEUTIQUE
LA French
DT Review
DE Pervasive development disorders; Autism spectrum disorders; Autistic
disorder; Therapy; Treatment; Review
ID AUTISM SPECTRUM DISORDERS; PLACEBO-CONTROLLED TRIAL; DOUBLE-BLIND;
INFANTILE-AUTISM; RETROSPECTIVE ANALYSIS; BEHAVIORAL SYMPTOMS;
ADOLESCENT AUTISM; CROSSOVER TRIAL; SLEEP PROBLEMS; CHILDREN
AB Background. - Pervasive developmental disorders (PDD) are neurodevelepmental disorders that are characterized by severe deficits in socialisation and communication, and the existence of repetitive and stereotyped interests and behaviours. It is estimated more than 60/100,000 children are suffering from PDD. Comorbid disorders are common in people with PDD, including intellectual deficiency, symptoms of attention deficit-hyperactivity, aggression and disruption, and pervasive repetitive behaviours or thoughts. These symptoms have a negative impact on the outcome and quality of life of the patients and their caregivers. The first-line management of comorbid disorders in PDD is behavioural intervention, but sometimes this is not sufficient, and the use of pharmacological treatment is needed.
Method. - We conducted a review of studies of medical treatments used in patients with PDD to establish which treatments show good evidence of efficacy in PDD. We used the Medline database and the following keywords "pervasive development disorders" or "autism spectrum disorders" or "autistic disorder" and "therapy" or "treatment".
Results. - The treatments that showed the best efficacy on irritability in well-designed studies are second generation antipsychotics, risperidone and aripiprazole. Some studies indicate that haloperidol is efficient as well, but the very high frequency of extra-pyramidal effects limits its use. Methylphenidate has shown some efficacy on impulsivity and hyperactivity in randomised placebo-controlled studies. First data concerning atomoxetine are promising but better-designed studies are needed. Selective serotonin re-uptake inhibitors: fluvoxamine and fluoxetine have shown some efficacy in the treatment of serious and pervasive repetitive behaviours. Alpha-adrenergic treatments, clonidine and guanfacine, can help in the management of disruptive behaviours in patients with PDD. Data concerning naltrexone are contradictory, indeed many case reports of its efficacy on aggressive (mostly auto-aggressive) behaviours are reported in the literature, but well-designed studies do not find any improvement in patients treated with naltrexone compared with patients treated with placebo. First data concerning ocytocin are promising, indeed, if they were to be confirmed, that would be the first treatment efficient on the core symptoms of PDD. (C) L'Encephale, Paris, 2013.
C1 [Beherec, L.] Ctr Hosp St Anne, Serv Hosp Univ, F-75014 Paris, France.
[Beherec, L.; Campion, D.; Guillin, O.] Ctr Hosp Rouvray, Pole Psychiat Gen Rouen Rive Droite, F-76300 Sottevilte Les Rouen, France.
[Quilici, G.; Rosier, A.; Guillin, O.] Ctr Hosp Rouvray, Ctr Ressource Autisme Haute Normandie, F-76300 Sottevilte Les Rouen, France.
[Campion, D.; Guillin, O.] Univ Rouen, Fac Med & Pharm, INSERM, Unite 614, F-76183 Rouen, France.
[Gerardin, P.] CHU Charles Nicolle, Pole Femme Mere Enfant, F-76031 Rouen, France.
RP Beherec, L (reprint author), Ctr Hosp St Anne, Serv Hosp Univ, 7 Rue Cabanis, F-75014 Paris, France.
EM laurenebeherec@hotmail.com
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NR 65
TC 0
Z9 0
PU MASSON EDITEUR
PI MOULINEAUX CEDEX 9
PA 21 STREET CAMILLE DESMOULINS, ISSY, 92789 MOULINEAUX CEDEX 9, FRANCE
SN 0013-7006
J9 ENCEPHALE
JI Enceph.-Rev. Psychiatr. Clin. Biol. Ther.
PD APR
PY 2014
VL 40
IS 2
BP 188
EP 196
DI 10.1016/j.encep.2012.01.014
PG 9
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AH0KI
UT WOS:000335807500014
PM 24369879
ER
PT J
AU Lyall, K
Schmidt, RJ
Hertz-Picciotto, I
AF Lyall, Kristen
Schmidt, Rebecca J.
Hertz-Picciotto, Irva
TI Maternal lifestyle and environmental risk factors for autism spectrum
disorders
SO INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
LA English
DT Article
DE Autism; environmental risk factors; air pollution; environmental
chemicals; maternal nutrition; maternal smoking; maternal alcohol use
ID FOLIC-ACID SUPPLEMENTS; POLYBROMINATED DIPHENYL ETHERS; SHORT
INTERPREGNANCY INTERVALS; PRENATAL ALCOHOL EXPOSURE; HAZARDOUS
AIR-POLLUTANTS; NEURAL-TUBE DEFECTS; URINARY BISPHENOL-A; CHILDHOOD
AUTISM; PYRETHROID INSECTICIDES; PSYCHIATRIC-DISORDERS
AB Background: Over the past 10 years, research into environmental risk factors for autism has grown dramatically, bringing evidence that an array of non-genetic factors acting during the prenatal period may influence neurodevelopment.
Methods: This paper reviews the evidence on modifiable preconception and/or prenatal factors that have been associated, in some studies, with autism spectrum disorder (ASD), including nutrition, substance use and exposure to environmental agents. This review is restricted to human studies with at least 50 cases of ASD, having a valid comparison group, conducted within the past decade and focusing on maternal lifestyle or environmental chemicals.
Results: Higher maternal intake of certain nutrients and supplements has been associated with reduction in ASD risk, with the strongest evidence for periconceptional folic acid supplements. Although many investigations have suggested no impact of maternal smoking and alcohol use on ASD, more rigorous exposure assessment is needed. A number of studies have demonstrated significant increases in ASD risk with estimated exposure to air pollution during the prenatal period, particularly for heavy metals and particulate matter. Little research has assessed other persistent and non-persistent organic pollutants in association with ASD specifically.
Conclusions: More work is needed to examine fats, vitamins and other maternal nutrients, as well as endocrine-disrupting chemicals and pesticides, in association with ASD, given sound biological plausibility and evidence regarding other neurodevelopmental deficits. The field can be advanced by large-scale epidemiological studies, attention to critical aetiological windows and how these vary by exposure, and use of biomarkers and other means to understand underlying mechanisms.
C1 [Lyall, Kristen; Schmidt, Rebecca J.; Hertz-Picciotto, Irva] Univ Calif Davis, Dept Publ Hlth Sci, MIND Med Invest Neurodev Disorders Inst, Davis, CA 95616 USA.
RP Lyall, K (reprint author), Univ Calif Davis, Dept Publ Hlth Sci, 1 Shields Ave,Med Sci 1C, Davis, CA 95616 USA.
EM kdodge@ucdavis.edu
FU National Institutes of Health (NIH) [R01-ES015359, NIH R01-ES020392, NIH
P01 ES11269, NIH K12HD051958]; U.S. Environmental Protection Agency
(EPA) STAR [R829388, R833292]
FX This work was supported by the following grants: National Institutes of
Health (NIH) R01-ES015359, NIH R01-ES020392, NIH P01 ES11269, NIH
K12HD051958 and U.S. Environmental Protection Agency (EPA) STAR #R829388
& R833292. The authors have no financial relationships relevant to this
article.
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NR 159
TC 14
Z9 14
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0300-5771
EI 1464-3685
J9 INT J EPIDEMIOL
JI Int. J. Epidemiol.
PD APR
PY 2014
VL 43
IS 2
BP 443
EP 464
DI 10.1093/ije/dyt282
PG 22
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AH1ZD
UT WOS:000335919500014
PM 24518932
ER
PT J
AU Kim, YS
State, MW
AF Kim, Young Shin
State, Matthew W.
TI Recent challenges to the psychiatric diagnostic nosology: a focus on the
genetics and genomics of neurodevelopmental disorders
SO INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
LA English
DT Article
DE nosology; genetics; genomics and etiology; neurodevelopmental disorders
ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; CHROMOSOME 16P11.2;
DISEASE RISK; POPULATION; SCHIZOPHRENIA; DELETIONS; PATTERNS; LOCI; CNVS
AB Recent advances in the genetics of neurodevelopmental disorder (NDD) have demonstrated that rare mutations play a role not only in Mendelian syndromes, but in complex, common forms of NDDs as well. Strikingly, both common polymorphisms and rare variations in a single gene or genetic locus have been found to carry risk for conditions previously considered to be clinically and aetiologically distinct. Recent developments in the methods and tools available for studying complex NDDs have led to systematic and reliable genome-wide variant discovery. Both common as well as rare, and structural as well as sequence, genetic variations have been identified as contributing to NDDs. There are multiple examples in which the identical variant had been found to contribute to a wide range of formerly distinct diagnoses, including autism, schizophrenia, epilepsy, intellectual disability and language disorders. These include variations in chromosomal structure at 16p11.2, rare de novo point mutations at the gene SCN2A, and common single nucleotide polymorphisms (SNPs) mapping near loci encoding the genes ITIH3, AS3MT, CACNA1C and CACNB2. These selected examples point to the challenges to current diagnostic approaches. Widely used categorical schema have been adequate to provide an entre into molecular mechanisms of NDDs, but there is a need to develop an alternative, more biologically-relevant nosology.
Thus recent advances in gene discovery in the area of NDDs are leading to a re-conceptualization of diagnostic boundaries. Findings suggest that epidemiological samples may provide important new insights into the genetics and diagnosis of NDDs and that other areas of medicine may provide useful models for developing a new diagnostic nosology, one that simultaneously integrates categorical diagnoses, biomarkers and dimensional variables.
C1 [Kim, Young Shin] Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT USA.
[Kim, Young Shin] Nathan S Kline Inst Psychiat Res, Orangeburg, NY USA.
[Kim, Young Shin] Yonsei Univ, Coll Med, Dept Psychiat, Seoul, South Korea.
[State, Matthew W.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA 94143 USA.
RP State, MW (reprint author), Univ Calif San Francisco, Dept Psychiat, Langley Porter Psychiat Inst & Hosp, 401 Parnassus Ave, San Francisco, CA 94143 USA.
EM Matthew.State@ucsf.edu
FU [ES021462]; [MH089956]; [MH081754]; [MH100027]
FX This work was supported by grants ES021462 (Y.S.K.) and MH089956,
MH081754 and MH100027(M.W.S.).
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NR 65
TC 4
Z9 4
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0300-5771
EI 1464-3685
J9 INT J EPIDEMIOL
JI Int. J. Epidemiol.
PD APR
PY 2014
VL 43
IS 2
BP 465
EP 475
DI 10.1093/ije/dyu037
PG 11
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AH1ZD
UT WOS:000335919500015
PM 24618187
ER
PT J
AU D'Onofrio, BM
Rickert, ME
Frans, E
Kuja-Halkola, R
Almqvist, C
Sjolander, A
Larsson, H
Lichtenstein, P
AF D'Onofrio, Brian M.
Rickert, Martin E.
Frans, Emma
Kuja-Halkola, Ralf
Almqvist, Catarina
Sjolander, Arvid
Larsson, Henrik
Lichtenstein, Paul
TI Paternal Age at Childbearing and Offspring Psychiatric and Academic
Morbidity
SO JAMA PSYCHIATRY
LA English
DT Article
ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; BIPOLAR DISORDER; MATERNAL
SMOKING; PARENTAL AGE; ENVIRONMENTAL-INFLUENCES; PERSONALITY-TRAITS;
RISK; SCHIZOPHRENIA; PREGNANCY
AB IMPORTANCE Advancing paternal age is associated with increased genetic mutations during spermatogenesis, which research suggests may cause psychiatric morbidity in the offspring. The effects of advancing paternal age at childbearing on offspring morbidity remain unclear, however, because of inconsistent epidemiologic findings and the inability of previous studies to rigorously rule out confounding factors.
OBJECTIVE To examine the associations between advancing paternal age at childbearing and numerous indexes of offspring morbidity.
DESIGN, SETTING, AND PARTICIPANTS We performed a population-based cohort study of all individuals born in Sweden in 1973-2001 (N = 2 615 081), with subsets of the data used to predict childhood or adolescent morbidity. We estimated the risk of psychiatric and academic morbidity associated with advancing paternal age using several quasi-experimental designs, including the comparison of differentially exposed siblings, cousins, and first-born cousins.
EXPOSURE Paternal age at childbearing.
MAIN OUTCOMES AND MEASURES Psychiatric (autism, attention-deficit/hyperactivity disorder, psychosis, bipolar disorder, suicide attempt, and substance use problem) and academic (failing grades and low educational attainment) morbidity.
RESULTS In the study population, advancing paternal age was associated with increased risk of some psychiatric disorders (eg, autism, psychosis, and bipolar disorders) but decreased risk of the other indexes of morbidity. In contrast, the sibling-comparison analyses indicated that advancing paternal age had a dose-response relationship with every index of morbidity, with the magnitude of the associations being as large or larger than the estimates in the entire population. Compared with offspring born to fathers 20 to 24 years old, offspring of fathers 45 years and older were at heightened risk of autism (hazard ratio [HR] = 3.45; 95% CI, 1.62-7.33), attention-deficit/hyperactivity disorder (HR = 13.13; 95% CI, 6.85-25.16), psychosis (HR = 2.07; 95% CI, 1.35-3.20), bipolar disorder (HR = 24.70; 95% CI, 12.12-50.31), suicide attempts (HR = 2.72; 95% CI, 2.08-3.56), substance use problems (HR = 2.44; 95% CI, 1.98-2.99), failing a grade (odds ratio [OR] = 1.59; 95% CI, 1.37-1.85), and low educational attainment (OR = 1.70; 95% CI, 1.50-1.93) in within-sibling comparisons. Additional analyses using several quasi-experimental designs obtained commensurate results, further strengthening the internal and external validity of the findings.
CONCLUSIONS AND RELEVANCE Advancing paternal age is associated with increased risk of psychiatric and academic morbidity, with the magnitude of the risks being as large or larger than previous estimates. These findings are consistent with the hypothesis that new genetic mutations that occur during spermatogenesis are causally related to offspring morbidity.
C1 [D'Onofrio, Brian M.; Rickert, Martin E.] Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN 47405 USA.
[Frans, Emma; Kuja-Halkola, Ralf; Almqvist, Catarina; Sjolander, Arvid; Larsson, Henrik; Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
[Almqvist, Catarina] Astrid Lindgren Childrens Hosp, Lung & Allergy Unit, Stockholm, Sweden.
RP D'Onofrio, BM (reprint author), Indiana Univ, Dept Psychol & Brain Sci, 1101 E 10th St, Bloomington, IN 47405 USA.
EM bmdonofr@indiana.edu
RI Maattanen, Laura/N-5424-2014
FU National Institute of Child Health and Human Development [HD061817];
Swedish Research Council (Medicine); Swedish Council for Working Life
and Social Research
FX The manuscript was supported by grant HD061817 from the National
Institute of Child Health and Human Development (Drs D'Onofrio and
Lichtenstein), the Swedish Research Council (Medicine) (Dr
Lichtenstein), and the Swedish Council for Working Life and Social
Research (Dr Lichtenstein).
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NR 46
TC 21
Z9 21
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 2168-622X
EI 2168-6238
J9 JAMA PSYCHIAT
JI JAMA Psychiatry
PD APR
PY 2014
VL 71
IS 4
BP 432
EP 438
DI 10.1001/jamapsychiatry.2013.4525
PG 7
WC Psychiatry
SC Psychiatry
GA AH2BU
UT WOS:000335926500014
PM 24577047
ER
PT J
AU Vijapura, S
Schofield, M
Maneta, E
Coffey, BJ
AF Vijapura, Sagar
Schofield, Molly
Maneta, Eleni
Coffey, Barbara J.
TI Mania in an Adolescent with Autism and Premenstrual Mood Variation: A
Diagnostic and Treatment Dilemma
SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY
LA English
DT Article
ID COMORBID BIPOLAR DISORDER; PREVALENCE
C1 [Vijapura, Sagar; Schofield, Molly; Maneta, Eleni] Harvard Univ, Sch Med, Dept Psychiat, Boston Childrens Hosp, Boston, MA 02115 USA.
[Coffey, Barbara J.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
RP Coffey, BJ (reprint author), Icahn Sch Med Mt Sinai, One Gustave L Levy Pl,Box 1230, New York, NY 10029 USA.
EM Barbara.coffey@mssm.edu
FU Eli Lily Pharmaceutical; NIMH; NINDS; Tourette Syndrome Association;
Otsuka; Shire; Bristol-Myers; Pfizer; Boehringer Ingelheim
FX Drs. Vijapura and Maneta and Mrs. Schofield have no conflicts of
interest or financial ties to disclose. Dr. Coffey has received research
support from Eli Lily Pharmaceutical, NIMH, NINDS, Tourette Syndrome
Association, Otsuka, Shire, Bristol-Myers, Pfizer, and Boehringer
Ingelheim.
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NR 9
TC 0
Z9 0
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1044-5463
EI 1557-8992
J9 J CHILD ADOL PSYCHOP
JI J. Child Adolesc. Psychopharmacol.
PD APR
PY 2014
VL 24
IS 3
BP 161
EP 164
DI 10.1089/cap.2014.2432
PG 4
WC Pediatrics; Pharmacology & Pharmacy; Psychiatry
SC Pediatrics; Pharmacology & Pharmacy; Psychiatry
GA AH6HC
UT WOS:000336230300008
PM 24725200
ER
PT J
AU Khan, A
Harney, JW
Zavackp, AM
Sajdel-Sulkowskal, EM
AF Khan, A.
Harney, J. W.
Zavackp, A. M.
Sajdel-Sulkowskal, E. M.
TI DISRUPTED BRAIN THYROID HORMONE HOMEOSTASIS AND ALTERED THYROID
HORMONE-DEPENDENT BRAIN GENE EXPRESSION IN AUTISM SPECTRUM DISORDERS
SO JOURNAL OF PHYSIOLOGY AND PHARMACOLOGY
LA English
DT Article
DE autism spectrum disorders; brain region-dependent; sex-dependent;
oxidative stress marker 3-nitrotrosine; type 2 deiodinase;
3',3,5-triiodothyronine
ID CENTRAL-NERVOUS-SYSTEM; IODOTHYRONINE DEIODINASE; CEREBRAL-CORTEX;
NEUROTROPHIC FACTOR; TYPE-2 DEIODINASE; MOLECULAR-BIOLOGY; OXIDATIVE
STRESS; UP-REGULATION; RAT; EXPOSURE
AB The present study examined human postmortem brains for changes consistent with the hypothesis of local brain TH deficiency in autism spectrum disorders (ASD). Brain levels of oxidative stress marker - 3-nitrotyrosine (3-NT), iodothyronine deiodinase type 2(D2) and type 3 (D3), 3',3,5-triiodothyronine (T3) content, mercury content and gene expression levels were analyzed and compared in the several regions of postmortem brains derived from both male and female control and ASD cases, age 4-16 years. We report that some parameters measured, such as D2 are subject to rapid postmortem inactivation, while others that were analyzed showed both brain region- and sex-dependent changes. Levels of 3-NT were overall increased, T3 was decreased in the cortical regions of ASD brains, while mercury levels measured only in the extracortical regions were not different. The expression of several thyroid hormone (TH)-dependent genes was altered in ASD. Data reported here suggest the possibility of brain region-specific disruption of TH homeostasis and gene expression in autism.
C1 [Khan, A.; Sajdel-Sulkowskal, E. M.] Harvard Univ, Sch Med, Dept Psychiat, Boston, MA 02163 USA.
[Khan, A.; Harney, J. W.; Zavackp, A. M.] Brigham & Womens Hosp, Boston, MA 02115 USA.
[Harney, J. W.; Zavackp, A. M.] Harvard Univ, Sch Med, Dept Med, Div Endocrinol Diabet & Hypertens,Thyroid Div, Boston, MA USA.
[Sajdel-Sulkowskal, E. M.] Warsaw Univ Life Sci, Fac Vet Med, Vet Res Ctr, Warsaw, Poland.
RP Sajdel-Sulkowskal, EM (reprint author), Harvard Univ, Sch Med, Dept Psychiat, Boston, MA 02163 USA.
EM esulkowska@rics.bwh.harvard.edu
FU SafeMinds; [NIDDK-DK76117]
FX This research was supported by a grant from SafeMinds to Dr.
Sajdel-Sulkowska and NIDDK-DK76117 grant to Dr. Zavacki. Human tissue
was obtained from NICHD Brain and Tissue Bank for Developmental
Disorders at the University of Maryland, Baltimore, MD. Authors thank
Dr. Alessandro Marsili for help with brain T3 analysis.
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NR 64
TC 1
Z9 1
PU POLISH PHYSIOLOGICAL SOC
PI GRZEGORZECKA
PA JAGIELLONIAN UNIV SCHOOL MED, INST PHYSIOLOGY, 31-531 KRAKOW, 16
GRZEGORZECKA, POLAND
SN 0867-5910
J9 J PHYSIOL PHARMACOL
JI J. Physiol. Pharmacol.
PD APR
PY 2014
VL 65
IS 2
BP 257
EP 272
PG 16
WC Physiology
SC Physiology
GA AH3GA
UT WOS:000336010500010
PM 24781735
ER
PT J
AU Memarzia, J
Tracy, D
Giaroli, G
AF Memarzia, Jessica
Tracy, Derek
Giaroli, Giovanni
TI The use of antipsychotics in preschoolers: A veto or a sensible last
option?
SO JOURNAL OF PSYCHOPHARMACOLOGY
LA English
DT Review
DE Antipsychotics; children (preschool); practice guideline; license;
long-term effects; safety; treatment efficacy; review
ID CHILDHOOD-ONSET SCHIZOPHRENIA; PERVASIVE DEVELOPMENTAL DISORDERS;
DISRUPTIVE BEHAVIOR DISORDERS; AUTISM SPECTRUM DISORDERS; OPEN-LABEL
TRIAL; DEFICIT HYPERACTIVITY DISORDER; PRIVATELY INSURED CHILDREN;
PEDIATRIC BIPOLAR DISORDER; ADVERSE DRUG EVENTS; SCHOOL-AGE-CHILDREN
AB Recent reports have illustrated a dramatic rise in the use of antipsychotics in preschool children, medications originally designed and licensed for the treatment of adult psychotic disorders. Within this context, the current usage and the associated diagnoses are reviewed and compared with official guidelines and licensing for such use, highlighting a controversial challenge for clinicians. A review of the evidence base of the relative efficacy of such medications for a range of disorders is given. Associated safety and side effects are discussed, with compelling evidence for increased adverse events associated with use of antipsychotics in preschoolers, and neurodevelopmental hypotheses are used to guide predictions of long-term risk. An apparent gap in the literature and evidence base supporting such use and elucidating the risks and benefits leaves a challenge for clinicians and researchers and hinders the development of appropriate guidelines. Pragmatism in clinical practice, mindful of the limited evidence base that does exist and the propensity for harm, is necessary; far more research is required in this important area.
C1 [Memarzia, Jessica; Tracy, Derek; Giaroli, Giovanni] Kings Coll London, Inst Psychiat, Dept Psychosis Studies, London WC2R 2LS, England.
[Tracy, Derek] Oxleas NHS Fdn Trust, London, England.
[Giaroli, Giovanni] North East London NHS Fdn Trust, London, England.
RP Memarzia, J (reprint author), Univ Cambridge, Dept Psychiat, 18b Trumpington Rd, Cambridge CB2 8AH, England.
EM jessica@memarzia.com
FU Shire; Eli Lily; FlynnPharma
FX Dr Giaroli has received honoraria for serving on a speakers' bureau for
Eli Lily, FlynnPharma and Jannsen. He has also received reimbursement
for travel expenses and conference attendance by Shire, Eli Lily and
FlynnPharma.
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NR 137
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0269-8811
EI 1461-7285
J9 J PSYCHOPHARMACOL
JI J. Psychopharmacol.
PD APR
PY 2014
VL 28
IS 4
BP 303
EP 319
DI 10.1177/0269881113519506
PG 17
WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AC3UR
UT WOS:000332447200002
PM 24451556
ER
PT J
AU Jungheim, M
Miller, S
Kuhn, D
Ptok, M
AF Jungheim, M.
Miller, S.
Kuehn, D.
Ptok, M.
TI Prosody, speech input and language acquisition
SO HNO
LA German
DT Article
DE Prosody; Language development; Child directed speech; Child language;
Speech acoustics
ID INFANT-DIRECTED SPEECH; NEUROPHYSIOLOGICAL INDEXES; PREVERBAL INFANTS;
WORD SEGMENTATION; QUICHE MAYAN; CHILDREN; DISCRIMINATION; MOTHERS;
AUTISM; RHYTHM
AB Background. In order to acquire language, children require speech input. The prosody of the speech input plays an important role. In most cultures adults modify their code when communicating with children. Compared to normal speech this code differs especially with regard to prosody.
Method. For this review a selective literature search in PubMed and Scopus was performed.
Results. Prosodic characteristics are a key feature of spoken language. By analysing prosodic features, children gain knowledge about underlying grammatical structures. Child-directed speech (CDS) is modified in a way that meaningful sequences are highlighted acoustically so that important information can be extracted from the continuous speech flow more easily. CDS is said to enhance the representation of linguistic signs.
Discussion. Taking into consideration what has previously been described in the literature regarding the perception of suprasegmentals, CDS seems to be able to support language acquisition due to the correspondence of prosodic and syntactic units. However, no findings have been reported, stating that the linguistically reduced CDS could hinder first language acquisition.
C1 [Jungheim, M.; Miller, S.; Kuehn, D.; Ptok, M.] Hannover Med Sch, Klin & Poliklin Phoniatrie & Padaudiol, D-30625 Hannover, Germany.
RP Jungheim, M (reprint author), Hannover Med Sch, Klin & Poliklin Phoniatrie & Padaudiol, Carl Neuberg Str 1, D-30625 Hannover, Germany.
EM jungheim.michael@mh-hannover.de
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NR 42
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0017-6192
EI 1433-0458
J9 HNO
JI HNO
PD APR
PY 2014
VL 62
IS 4
BP 249
EP 253
DI 10.1007/s00106-013-2816-y
PG 5
WC Otorhinolaryngology
SC Otorhinolaryngology
GA AG9GG
UT WOS:000335726800003
PM 24633379
ER
PT J
AU Halepoto, DM
Bashir, S
AL-Ayadhi, L
AF Halepoto, Dost Muhammad
Bashir, Shahid
AL-Ayadhi, Laila
TI Possible Role of Brain-Derived Neurotrophic Factor (BDNF) in Autism
Spectrum Disorder: Current Status
SO JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN
LA English
DT Review
DE Brain-derived neurotrophic factor; Autism spectrum disorder; Treatment
ID MENTAL-RETARDATION; NEONATAL BLOOD; SERUM-LEVELS; CHILDREN; PROTEIN;
NEUROPEPTIDES; ASSOCIATION; GENE
AB Brain-derived neurotrophic factor (BDNF), a member of the neurotrophin family of survival-promoting molecules, plays a vital role in the growth, development, maintenance, and function of several neuronal systems. The purpose of this review is to document the support for the involvement of this molecule in the maintenance of normal cognitive, emotional functioning, and to outline recent developments in the content of Autism spectrum disorder (ASD). Current and future treatment development can be guided by developing understanding of this molecule's actions in the brain and the ways the expression of BDNF can be planned. Over the years, research findings suggested a critical role played by BDNF in the development of autism including increased serum concentrations of BDNF in children with autism and identification of different forms of BDNF in families of autistic individuals.
C1 [Halepoto, Dost Muhammad; Bashir, Shahid; AL-Ayadhi, Laila] King Saud Univ, Fac Med, Autism Res & Treatment Ctr, Dept Physiol, Riyadh 11461, Saudi Arabia.
RP Halepoto, DM (reprint author), King Saud Univ, Al Amodi Autism Res Chair, KSU Autism Res & Treatment Ctr, Dept Physiol, POBB 2925, Riyadh 11461, Saudi Arabia.
EM dr_m_halepota@yahoo.com
FU Autism Research and Treatment Centre; Sheikh Al-Amoudi Autism research
chair; King Abdul Aziz city for science and technology (KACST); Health
Research and Studies program at (NPST); Kind Saud University
FX We thank Autism Research and Treatment Centre, Sheikh Al-Amoudi Autism
research chair, King Abdul Aziz city for science and technology (KACST),
and Health Research and Studies program at (NPST), Kind Saud University
for sponsoring and financial support.
CR Abdallah MW, 2013, ACTA PSYCHIAT SCAND, V128, P61, DOI 10.1111/acps.12020
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Yoshikawa T, 2007, BIOCHEM BIOPH RES CO, V360, P200
NR 37
TC 0
Z9 1
PU COLL PHYSICIANS & SURGEONS PAKISTAN
PI KARACHI
PA SEVENTH CENTRAL ST, DEFENCE HOUSING AUTHORITY, KARACHI, 75500, PAKISTAN
SN 1022-386X
EI 1681-7168
J9 JCPSP-J COLL PHYSICI
JI JCPSP-J. Coll. Physicians Surg.
PD APR
PY 2014
VL 24
IS 4
BP 274
EP 278
PG 5
WC Medicine, General & Internal
SC General & Internal Medicine
GA AG7TJ
UT WOS:000335621300014
PM 24709243
ER
PT J
AU White, SJ
Frith, U
Rellecke, J
Al-Noor, Z
Gilbert, SJ
AF White, Sarah J.
Frith, Uta
Rellecke, Julian
Al-Noor, Zainab
Gilbert, Sam J.
TI Autistic adolescents show atypical activation of the brain's mentalizing
system even without a prior history of mentalizing problems
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Autism; Theory of mind; Social impairment; Development; Longitudinal
ID FUNCTIONAL CONNECTIVITY MRI; MEDIAL PREFRONTAL CORTEX; SPECTRUM
DISORDERS; ASPERGER-SYNDROME; SOCIAL BRAIN; DIAGNOSTIC INTERVIEW; MIND;
CHILDREN; MECHANISMS; TASKS
AB Some autistic children pass classic Theory of Mind (ToM) tasks that others fail, but the significance of this finding is at present unclear. We identified two such groups of primary school age (labelled ToM+ and ToM-) and a matched comparison group of typically developing children (TD). Five years later we tested these participants again on a ToM test battery appropriate for adolescents and conducted an fMRI study with a story based ToM task. We also assessed autistic core symptoms at these two time points. At both times the ToM-group showed more severe social communication impairments than the ToM+ group, and while showing an improvement in mentalizing performance, they continued to show a significant impairment compared to the NT group. Two independent ROI analyses of the BOLD signal showed activation of the mentalizing network including medial prefrontal cortex, posterior cingulate and lateral temporal cortices. Strikingly, both ToM+ and ToM- groups showed very similar patterns of heightened activation in comparison with the NT group. No differences in other brain regions were apparent. Thus, autistic adolescents who do not have a history of mentalizing as children who did have such a history. This finding indicates that heterogeneity at the behavioural level may nevertheless map onto a similar phenotype at the neuro-cognitive level. (C) 2013 The Authors. Published by Elsevier Ltd. All rights reserved.
C1 [White, Sarah J.; Frith, Uta; Al-Noor, Zainab; Gilbert, Sam J.] UCL, Inst Cognit Neurosci, London WC1N 3AR, England.
[Rellecke, Julian] Humboldt Univ, Dept Psychol, D-10099 Berlin, Germany.
RP Gilbert, SJ (reprint author), Inst Cognit Neurosci, 17 Queen Sq, London WC1N 3AR, England.
EM sam.gilbert@ucl.ac.uk
RI White, Sarah/C-4084-2008; Gilbert, Sam/C-1909-2008
OI White, Sarah/0000-0001-6946-9155; Gilbert, Sam/0000-0002-3839-7045
FU Royal Society University Research Fellowship; British Academy
Postdoctoral Fellowship
FX SJG is supported by a Royal Society University Research Fellowship. SJW
is supported by a British Academy Postdoctoral Fellowship. We are
grateful to staff at BUCNI, and to the participants in this study.
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NR 56
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
EI 1873-3514
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD APR
PY 2014
VL 56
BP 17
EP 25
DI 10.1016/j.neuropsychologia.2013.12.013
PG 9
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AG5VM
UT WOS:000335486800003
PM 24361475
ER
PT J
AU Nyhan, B
Reifler, J
Richey, S
Freed, GL
AF Nyhan, Brendan
Reifler, Jason
Richey, Sean
Freed, Gary L.
TI Effective Messages in Vaccine Promotion: A Randomized Trial
SO PEDIATRICS
LA English
DT Article
DE vaccines; myths; MMR; autism; false; misperceptions; misinformation
ID PUBLIC-HEALTH; UNITED-STATES; PARENTS; MISINFORMATION; IMMUNIZATION;
RISK; MEASLES; INFORMATION; EXEMPTIONS; COMMUNITY
AB OBJECTIVES:To test the effectiveness of messages designed to reduce vaccine misperceptions and increase vaccination rates for measles-mumps-rubella (MMR).METHODS:A Web-based nationally representative 2-wave survey experiment was conducted with 1759 parents age 18 years and older residing in the United States who have children in their household age 17 years or younger (conducted June-July 2011). Parents were randomly assigned to receive 1 of 4 interventions: (1) information explaining the lack of evidence that MMR causes autism from the Centers for Disease Control and Prevention; (2) textual information about the dangers of the diseases prevented by MMR from the Vaccine Information Statement; (3) images of children who have diseases prevented by the MMR vaccine; (4) a dramatic narrative about an infant who almost died of measles from a Centers for Disease Control and Prevention fact sheet; or to a control group.RESULTS:None of the interventions increased parental intent to vaccinate a future child. Refuting claims of an MMR/autism link successfully reduced misperceptions that vaccines cause autism but nonetheless decreased intent to vaccinate among parents who had the least favorable vaccine attitudes. In addition, images of sick children increased expressed belief in a vaccine/autism link and a dramatic narrative about an infant in danger increased self-reported belief in serious vaccine side effects.CONCLUSIONS:Current public health communications about vaccines may not be effective. For some parents, they may actually increase misperceptions or reduce vaccination intention. Attempts to increase concerns about communicable diseases or correct false claims about vaccines may be especially likely to be counterproductive. More study of pro-vaccine messaging is needed.
C1 [Nyhan, Brendan] Dartmouth Coll, Dept Govt, Hanover, NH 03755 USA.
[Reifler, Jason] Univ Exeter, Dept Polit, Exeter, Devon, England.
[Richey, Sean] Georgia State Univ, Dept Polit Sci, Atlanta, GA 30303 USA.
[Freed, Gary L.] Univ Michigan, Div Gen Pediat, Child Hlth Evaluat & Res CHEAR Unit, Ann Arbor, MI 48109 USA.
[Freed, Gary L.] Univ Michigan, Sch Publ Hlth, Dept Hlth Management & Policy, Ann Arbor, MI 48109 USA.
RP Nyhan, B (reprint author), Dartmouth Coll, HB 6108, Hanover, NH 03755 USA.
EM nyhan@dartmouth.edu
FU Robert Wood Johnson Foundation Health and Society Scholars Program at
the University of Michigan
FX Funded by a grant from the Robert Wood Johnson Foundation Health and
Society Scholars Program at the University of Michigan. The findings and
conclusions in this report are those of the authors and do not
necessarily represent the views of the funders.
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NR 49
TC 23
Z9 24
PU AMER ACAD PEDIATRICS
PI ELK GROVE VILLAGE
PA 141 NORTH-WEST POINT BLVD,, ELK GROVE VILLAGE, IL 60007-1098 USA
SN 0031-4005
EI 1098-4275
J9 PEDIATRICS
JI Pediatrics
PD APR
PY 2014
VL 133
IS 4
BP E835
EP E842
DI 10.1542/peds.2013-2365
PG 8
WC Pediatrics
SC Pediatrics
GA AG3TU
UT WOS:000335343500030
PM 24590751
ER
PT J
AU Almirall, D
AF Almirall, Daniel
TI A CASE STUDY OF TWO APPLICATIONS OF THE SMART EXPERIMENTAL DESIGN FOR
CONSTRUCTING ADAPTIVE BEHAVIORAL INTERVENTIONS IN MINIMALLY VERBAL
CHILDREN WITH AUTISM
SO ANNALS OF BEHAVIORAL MEDICINE
LA English
DT Meeting Abstract
C1 [Almirall, Daniel] Univ Michigan, Ann Arbor, MI 48104 USA.
EM daniel.almirall@gmail.com
NR 0
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0883-6612
EI 1532-4796
J9 ANN BEHAV MED
JI Ann. Behav. Med.
PD APR
PY 2014
VL 47
SU 1
BP S164
EP S164
PG 1
WC Psychology, Multidisciplinary
SC Psychology
GA AF0MI
UT WOS:000334408300628
ER
PT J
AU Reyna, V
Chick, C
Weldon, R
Corbin, J
Wilhelms, E
AF Reyna, Valerie
Chick, Christina
Weldon, Rebecca
Corbin, Jonathan
Wilhelms, Evan
TI ADOLESCENCE, AGING, AUTISM, AND ALZHEIMER'S DISEASE: A UNIFYING
FRAMEWORK FOR UNDERSTANDING THE BRAIN AND ITS BIASES
SO ANNALS OF BEHAVIORAL MEDICINE
LA English
DT Meeting Abstract
C1 [Reyna, Valerie; Chick, Christina; Weldon, Rebecca; Corbin, Jonathan; Wilhelms, Evan] Cornell Univ, Human Neurosci Inst, Ithaca, NY USA.
NR 0
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0883-6612
EI 1532-4796
J9 ANN BEHAV MED
JI Ann. Behav. Med.
PD APR
PY 2014
VL 47
SU 1
BP S73
EP S73
PG 1
WC Psychology, Multidisciplinary
SC Psychology
GA AF0MI
UT WOS:000334408300277
ER
PT J
AU Emck, C
AF Emck, Claudia
TI Double trouble? Movement behaviour and psychiatric conditions in
children: An opportunity for treatment and development
SO ARTS IN PSYCHOTHERAPY
LA English
DT Article
DE Dance/movement therapy; Child psychiatry; Neurodevelopmental disorders;
Movement observation; Gross motor performance; PsyMot procedure
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; GROSS MOTOR-PERFORMANCE;
SCHOOL-AGED CHILDREN; COORDINATION DISORDER; ASPERGER-SYNDROME;
PHYSICAL-FITNESS; DANCE/MOVEMENT THERAPY; BRAIN-DEVELOPMENT;
SELF-CONCEPT; AUTISM
AB Children with neurodevelopmental disorders often show problems in movement behaviour. Clinical motor features such as clumsiness, odd postures, hyperactivity and tics occur frequently in children with psychiatric conditions. Most dance/movement therapists recognize these, and consequently tailor treatment to the abilities of their clients. In view of treatment strategies, it is important to know which motor features are associated with which psychiatric conditions, and how movement problems be influenced by movement interventions. Therefore, this article focuses on clinical movement features, gross motor problems, neurodevelopmental aspects and movement interventions for children with emotional, behavioural and autism spectrum disorders. (C) 2014 Elsevier Ltd. All rights reserved.
C1 Vrije Univ Amsterdam, Res Inst MOVE, Fac Human Movement Sci, NL-1081 BT Amsterdam, Netherlands.
RP Emck, C (reprint author), Vrije Univ Amsterdam, Res Inst MOVE, Fac Human Movement Sci, Boechorststr 9, NL-1081 BT Amsterdam, Netherlands.
EM Claudia.emck@gmail.com
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NR 126
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0197-4556
EI 1873-5878
J9 ART PSYCHOTHER
JI Arts Psychother.
PD APR
PY 2014
VL 41
IS 2
BP 214
EP 222
DI 10.1016/j.aip.2014.02.007
PG 9
WC Psychology, Clinical; Rehabilitation
SC Psychology; Rehabilitation
GA AG3CZ
UT WOS:000335294700011
ER
PT J
AU Hamilton, SM
Green, JR
Veeraragavan, S
Yuva, L
Mccoy, A
Wu, YM
Warren, J
Little, L
Ji, DN
Cui, XX
Weinstein, E
Paylor, R
AF Hamilton, Shannon M.
Green, Jennie R.
Veeraragavan, Surabi
Yuva, Lisa
Mccoy, Aaron
Wu, Yumei
Warren, Joe
Little, Lara
Ji, Diana
Cui, Xiaoxia
Weinstein, Edward
Paylor, Richard
TI Fmr1 and Nlgn3 Knockout Rats: Novel Tools for Investigating Autism
Spectrum Disorders
SO BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE behavior; Fmr1; neuroligin 3; rat; autism
ID ZINC-FINGER NUCLEASES; X MENTAL-RETARDATION; EMBRYONIC STEM-CELLS; MOUSE
MODEL; SOCIAL APPROACH; MICE; PLAY; ABNORMALITIES; TRANSMISSION;
BEHAVIORS
AB Animal models are critical for gaining insights into autism spectrum disorder (ASD). Despite their apparent advantages to mice for neural studies, rats have not been widely used for disorders of the human CNS, such as ASD, for the lack of convenient genome manipulation tools. Here we describe two of the first transgenic rat models for ASD, developed using zinc-finger nuclease (ZFN) methodologies, and their initial behavioral assessment using a rapid juvenile test battery. A syndromic and nonsyndromic rat model for ASD were created as two separate knockout rat lines with heritable disruptions in the genes encoding Fragile X mental retardation protein (FMRP) and Neuroligin3 (NLGN3). FMRP, a protein with numerous proposed functions including regulation of mRNA and synaptic protein synthesis, and NLGN3, a member of the neuroligin synaptic cell-adhesion protein family, have been implicated in human ASD. Juvenile subjects from both knockout rat lines exhibited abnormalities in ASD-relevant phenotypes including juvenile play, perseverative behaviors, and sensorimotor gating. These data provide important first evidence regarding the utility of rats as genetic models for investigating ASD-relevant genes.
C1 [Hamilton, Shannon M.; Green, Jennie R.; Veeraragavan, Surabi; Yuva, Lisa] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
[Mccoy, Aaron; Wu, Yumei; Warren, Joe; Little, Lara; Ji, Diana; Cui, Xiaoxia; Weinstein, Edward] SAGE Labs, St Louis, MO USA.
[Paylor, Richard] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
[Paylor, Richard] Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA.
RP Paylor, R (reprint author), One Baylor Plaza,Room 436E, Houston, TX 77584 USA.
EM rpaylor@bcm.edu
FU Autism Speaks; NICHD Fragile X Center
FX We thank and acknowledge Deanna Graham for providing important technical
assistance and Autism Speaks and the NICHD Fragile X Center for funding
assistance.
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NR 30
TC 1
Z9 2
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0735-7044
EI 1939-0084
J9 BEHAV NEUROSCI
JI Behav. Neurosci.
PD APR
PY 2014
VL 128
IS 2
BP 103
EP 109
DI 10.1037/a0035988
PG 7
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AG2CX
UT WOS:000335224500001
PM 24773431
ER
PT J
AU Robinson, LJ
Freeston, MH
AF Robinson, Lucy J.
Freeston, Mark H.
TI Emotion and internal experience in Obsessive Compulsive Disorder:
Reviewing the role of alexithymia, anxiety sensitivity and distress
tolerance
SO CLINICAL PSYCHOLOGY REVIEW
LA English
DT Article
DE Obsessive Compulsive Disorder; Alexithymia; Anxiety sensitivity;
Distress tolerance; Experiential avoidance; Emotion
ID AUTISM SPECTRUM DISORDERS; PSYCHOACTIVE SUBSTANCE DEPENDENCE;
THOUGHT-ACTION FUSION; SYMPTOM-DIMENSIONS; HIERARCHICAL STRUCTURE;
INITIAL VALIDATION; HOARDING BEHAVIORS; ABSTINENCE ATTEMPT; PANIC
DISORDER; AVOIDANCE
AB Increasing attention has focused on the role of emotion and internal experience in Obsessive Compulsive Disorder (OCD). This review examines three key constructs that capture different aspects of understanding, appraisal and tolerance of internal states in OCD alexithymia, anxiety sensitivity (AS) and distress tolerance (DT). The review examines the evidence for the role each of these constructs plays in OCD and considers whether conclusions can be drawn about the implications for our understanding and treatment of OCD. There is evidence that all three are elevated in clinical cases compared to controls, but there is no evidence that any of the three shows specificity for OCD over other anxiety disorders. However, the review has highlighted significant methodological heterogeneity and consequent variation in findings that currently limits broader conclusions from being drawn. There is an indication that this is a valuable area to explore and future studies should focus on deriving greater conceptual clarity around these constructs, independently replicating findings, and establishing a common methodology to enhance the comparability of studies. Studies exploring the ways in which internal experience, cognitions and symptoms may relate to one another would be of significant value in developing models that then lead to improved treatment approaches. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Robinson, Lucy J.; Freeston, Mark H.] Newcastle Univ, Sch Psychol, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
[Freeston, Mark H.] Northumberland Tyne & Wear NHS Fdn Trust, Gosforth, England.
RP Robinson, LJ (reprint author), Newcastle Univ, Sch Psychol, Ridley Bldg 1,Queen Victoria Rd, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
EM lucy.robinson2@ncl.ac.uk
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NR 104
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0272-7358
EI 1873-7811
J9 CLIN PSYCHOL REV
JI Clin. Psychol. Rev.
PD APR
PY 2014
VL 34
IS 3
BP 256
EP 271
DI 10.1016/j.cpr.2014.03.003
PG 16
WC Psychology, Clinical
SC Psychology
GA AG0GH
UT WOS:000335093400007
PM 24682109
ER
PT J
AU Vila, R
Castaner, R
Cole, P
AF Vila, R.
Castaner, R.
Cole, P.
TI EXPERIMENTAl MODELS IN MAMMALS REPRODUCING HUMAN DISEASES
SO DRUGS OF THE FUTURE
LA English
DT Article
DE Experimental models; Animal models; Multiple sclerosis; Cancer; Cardiac
repair; Hypertension; Depression
ID ANIMAL-MODELS
AB The development of new therapies can be greatly facilitated by the use of experimental models of disease, and the development of these models represents an active and exciting field of investigation. In a series of articles, we will survey some recent innovations in the creation and use of experimental models. The current piece highlights a selection of newly created models of pulmonary hypertension, atherothrombotic occlusion, multiple sclerosis, myelofibrosis, Alzheimer's disease and status epilepticus. The application of novel models to test treatments for lymphoma and non-small cell lung cancer are also covered. Further insights discussed include a novel means of analyzing brain function in nonhuman primates, how models have been used to identify new therapeutic targets in multiple sclerosis and autism spectrum disorders, the predictive capability of mouse models in cancer, the in vivo testing of a cardiac repair scaffold for myocardial infarction, and the development of a small mobile robot capable of inducing depression in rats.
C1 [Vila, R.; Castaner, R.; Cole, P.] Thomson Reuters, Barcelona, Spain.
RP Vila, R (reprint author), Thomson Reuters, Barcelona, Spain.
EM ruth.vila@thomsonreuters.com
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Zhang J., 2013, 25 EORTC NCI AACR S
NR 25
TC 0
Z9 0
PU PROUS SCIENCE, SAU-THOMSON REUTERS
PI BARCELONA
PA 398 PROVENCA, 08025 BARCELONA, SPAIN
SN 0377-8282
EI 2013-0368
J9 DRUG FUTURE
JI Drug Future
PD APR
PY 2014
VL 39
IS 4
BP 263
EP 268
DI 10.1358/dof.2014.39.4.2150645
PG 6
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AG3OE
UT WOS:000335328300004
ER
PT J
AU Corbett, BA
Schupp, CW
AF Corbett, Blythe A.
Schupp, Clayton W.
TI The cortisol awakening response (CAR) in male children with autism
spectrum disorder
SO HORMONES AND BEHAVIOR
LA English
DT Article
DE Autism; ASD; Cortisol; CAR; Development; Children; Adolescence; HPA
ID CIRCADIAN-RHYTHMS; STRESS; PROFILES; SALIVA; HERITABILITY; ADOLESCENCE;
SLEEP
AB Our ability to adapt to change is fundamental. The cortisol awakening response (CAR) is a sharp rise in cortisol 30 min after waking to help prepare an individual for ensuing stress. Children with autism spectrum disorder (ASD) often have difficulty adapting to change. Exploration of the CAR is warranted; yet, the few studies investigating it are inconclusive. The CAR was investigated in 94 pre-pubertal male children 8-to-12 years of age with ASD (46) and typical development (TD, 48). Salivary samples were collected over three diurnal cycles involving two morning samples: M1: Immediately upon Waking and M2: 30-min Post Waking (M2 - M1 =CAR). The magnitude of the CAR was measured by independent two sample t-tests, variability was measured using Levene's Test, the sequence of the CAR was analyzed by a linear mixed-effects model and proportion of children exhibiting a CAR by chi-square test of independence. There were no significant differences on the CAR between the groups based on magnitude (t(92) = -0.14, p = 0.89, d = 0.04), variability (F(45,47) =1.11, p = 0.72, eta(2) = 0.11) or the sequence over three days (F(2,88) = 0.26, p = 0.77, eta(2) = 0.01). No significant differences were shown in the proportion of children exhibiting a CAR across the groups based on child (chi(2)(1) = 0.02, p = 0.89) or adult criterion (chi(2)(1) = 1.82, p = 0.18). Despite group differences in the regulation and responsivity of cortisol, the CAR is indistinguishable between children with and without ASD. Inconsistencies across studies may be due to age, criterion used, and diagnostic distinctions. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Corbett, Blythe A.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37203 USA.
[Corbett, Blythe A.] Vanderbilt Kennedy Ctr, Nashville, TN USA.
[Schupp, Clayton W.] Canc Prevent Inst Calif, Fremont, CA USA.
RP Corbett, BA (reprint author), Vanderbilt Univ, PMB 40,230 Appleton Pl, Nashville, TN 37203 USA.
EM blythe.corbett@vanderbilt.edu
FU National Institute of Health [R01 MH085717]
FX This work was supported in part by the National Institute of Health R01
MH085717 awarded to Blythe Corbett. The content is solely the
responsibility of the authors and does not necessarily represent the
official views of the National Institute of Mental Health (NIMH) or the
National Institute of Health. The NIMH had no further role in study
design, in the collection, analysis and interpretation of the data; in
the writing of the report; and in the decision to submit the paper for
publication.
CR American Psychiatric Association APA, 2013, DIAGN STAT MAN MENT, V5th
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NR 44
TC 4
Z9 4
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0018-506X
EI 1095-6867
J9 HORM BEHAV
JI Horm. Behav.
PD APR
PY 2014
VL 65
IS 4
BP 345
EP 350
DI 10.1016/j.yhbeh.2014.01.012
PG 6
WC Behavioral Sciences; Endocrinology & Metabolism
SC Behavioral Sciences; Endocrinology & Metabolism
GA AG3DC
UT WOS:000335295000003
PM 24508619
ER
PT J
AU Babb, JA
Carini, LM
Spears, SL
Nephew, BC
AF Babb, Jessica A.
Carini, Lindsay M.
Spears, Stella L.
Nephew, Benjamin C.
TI Transgenerational effects of social stress on social behavior,
corticosterone, oxytocin, and prolactin in rats
SO HORMONES AND BEHAVIOR
LA English
DT Article
DE Social stress; Early life stress; Postpartum depression; Anxiety;
Autism; Corticosterone; Oxytocin; Prolactin; Transgenerational; Social
behavior
ID PITUITARY-ADRENAL AXIS; EARLY-LIFE STRESS; NEONATAL MATERNAL SEPARATION;
ADULT MALE RATS; ANTENATAL DEPRESSION; FEMALE RATS; INTERGENERATIONAL
TRANSMISSION; MENTAL-HEALTH; HPA AXIS; PERIPHERAL OXYTOCIN
AB Social stressors such as depressed maternal care and family conflict are robust challenges which can have longterm physiological and behavioral effects on offspring and future generations. The current study investigates the transgenerational effects of an ethologically relevant chronic social stress on the behavior and endocrinology of juvenile and adult rats. Exposure to chronic social stress during lactation impairs maternal care in F0 lactating dams and the maternal care of the F1 offspring of those stressed F0 dams. The overall hypothesis was that the male and female F2 offspring of stressed Fl dams would display decreased social behavior as both juveniles and adults and that these behavioral effects would be accompanied by changes in plasma corticosterone, prolactin, and oxytocin. Both the female and male F2 offspring of dams exposed to chronic social stress displayed decreased social behavior as juveniles and adults, and these behavioral effects were accompanied by decreases in basal concentrations of corticosterone in both sexes, as well as elevated juvenile oxytocin and decreased adult prolactin in the female offspring. The data support the conclusion that social stress has transgenerational effects on the social behavior of the female and male offspring which are mediated by changes in the hypothalamic-pituitary-adrenal axis and hypothalamic-pituitary-gonadal axis. Social stress models are valuable resources in the study of the transgenerational effects of stress on the behavioral endocrinology of disorders such as depression, anxiety, autism, and other disorders involving disrupted social behavior. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Babb, Jessica A.; Carini, Lindsay M.; Spears, Stella L.; Nephew, Benjamin C.] Tufts Univ, Cummings Sch Vet Med, Dept Biomed Sci, North Grafton, MA 01536 USA.
RP Nephew, BC (reprint author), Tufts Univ, Cummings Sch Vet Med, Dept Biomed Sci, Peabody Pavil Room 115, North Grafton, MA 01536 USA.
EM bcnephew@aol.com
FU NICHD ROO HD [HD059943]; Tufts CTSI Catalyst [NIH CTSA UL1 TR001064]
FX We would like to thank the Tufts University Cummings School Laboratory
Animals Medicine Service for its outstanding animal care. Gavin Nephew
assisted with data collection. This project was funded by NICHD ROO HD
HD059943 and a Tufts CTSI Catalyst grant NIH CTSA UL1 TR001064 to BCN.
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NR 90
TC 4
Z9 4
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0018-506X
EI 1095-6867
J9 HORM BEHAV
JI Horm. Behav.
PD APR
PY 2014
VL 65
IS 4
BP 386
EP 393
DI 10.1016/j.yhbeh.2014.03.005
PG 8
WC Behavioral Sciences; Endocrinology & Metabolism
SC Behavioral Sciences; Endocrinology & Metabolism
GA AG3DC
UT WOS:000335295000009
PM 24657520
ER
PT J
AU Theoharides, TC
Conti, P
Economu, M
AF Theoharides, Theoharis C.
Conti, Pio
Economu, Marina
TI Brain Inflammation, Neuropsychiatric Disorders, and Immunoendocrine
Effects of Luteolin
SO JOURNAL OF CLINICAL PSYCHOPHARMACOLOGY
LA English
DT Editorial Material
ID AUTISM SPECTRUM DISORDERS; NONSTEROIDAL ANTIINFLAMMATORY DRUGS; HUMAN
MAST-CELLS; MICROGLIAL ACTIVATION; ALZHEIMERS-DISEASE; FLAVONOID
LUTEOLIN; MEDIATOR RELEASE; BIPOLAR DISORDER; CANCER-CELLS; T-CELLS
C1 [Theoharides, Theoharis C.] Tufts Univ, Sch Med, Tufts Med Ctr,Dept Integrat Physiol & Pathobiol, Mol Immunopharmacol & Drug Discovery Lab, Boston, MA 02111 USA.
[Theoharides, Theoharis C.] Tufts Univ, Sch Med, Tufts Med Ctr, Dept Biochem, Boston, MA 02111 USA.
[Theoharides, Theoharis C.] Tufts Univ, Sch Med, Tufts Med Ctr, Dept Internal Med, Boston, MA 02111 USA.
[Theoharides, Theoharis C.] Tufts Univ, Sch Med, Tufts Med Ctr, Dept Psychiat, Boston, MA 02111 USA.
[Conti, Pio] Univ G dAnnunzio, Dept Clin & Expt Med, Div Immunol, Chieti, Italy.
[Economu, Marina] Aiginitio Hosp, Athens Med Sch, Dept Psychiat, Athens, Greece.
RP Theoharides, TC (reprint author), Tufts Univ, Sch Med, Dept Integrat Physiol & Pathobiol, 136 Harrison Ave, Boston, MA 02111 USA.
EM theoharis.theoharides@tufts.edu
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NR 58
TC 1
Z9 1
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0271-0749
EI 1533-712X
J9 J CLIN PSYCHOPHARM
JI J. Clin. Psychopharmacol.
PD APR
PY 2014
VL 34
IS 2
BP 187
EP 189
DI 10.1097/JCP.0000000000000084
PG 3
WC Pharmacology & Pharmacy; Psychiatry
SC Pharmacology & Pharmacy; Psychiatry
GA AG3OC
UT WOS:000335328000003
PM 24525647
ER
PT J
AU Valenti, M
La Malfa, G
Tomassini, A
Masedu, F
Tiberti, S
Sorge, G
AF Valenti, M.
La Malfa, G.
Tomassini, A.
Masedu, F.
Tiberti, S.
Sorge, G.
TI Burnout among therapists working with persons with autism after the 2009
earthquake in L'Aquila, Italy: a longitudinal comparative study
SO JOURNAL OF PSYCHIATRIC AND MENTAL HEALTH NURSING
LA English
DT Article
DE mental health; rehabilitation; scales and assessment; psychological
trauma; disaster work
ID POSTTRAUMATIC-STRESS-DISORDER; CONFIRMATORY FACTOR-ANALYSIS; FACTORIAL
VALIDITY; INVENTORY; CONSISTENCY; INVARIANCE; EFFICACY; WORKERS
AB Accessible summary
This study was the first attempt to evaluate burnout occurrence in mental health therapists working in a highly exposed setting, characterized by prolonged exposure to an autism-related work frame and a post-earthquake aftermath.
Results strongly suggest that autism therapists exposed to a disruptive earthquake are at higher risk of burnout than caregivers working in typical conditions. In presence of high-risk exposures, burnout occurs rapidly (1 year) with respect to times to event described in the literature (4 years or later).
Efforts are required to help mental health workers, including psychiatric nurses, to cope with the devastating situation determined by an earthquake. Assuming that return to good work conditions, supervision support, and natural adaptation are plausible determinants in reducing burnout risk, a periodical monitoring of mental health status is recommended in mental health works.
The aim of this study was to follow up the occurrence of burnout in therapists of children and adolescents with autism experiencing the 2009 earthquake in L'Aquila, and to discuss implications for burnout prevention after disasters. A longitudinal study was carried out, measuring burnout outcomes according to the Maslach Burnout Inventory in 11 exposed and 53 unexposed therapists. Staff in the exposed group appeared to report significantly higher levels of emotional exhaustion after 1 and 2 years of follow-up than the unexposed staff. As to lack of personal accomplishment, the exposed groups shows increasingly lower scores with respect to the unexposed group, with personal accomplishment (PA) values falling from 41.0 [standard deviation (SD) 3.7] to 33.4 (SD 4.1) after 2 years, whereas PA values remain stable over time in the unexposed group. As to depersonalization, data show no significant difference between groups. Burnout occurrence is induced by the exceptional stressors related with natural disasters like earthquakes. Efforts are required to help mental health workers, including psychiatric nurses, to cope with the devastating situation determined by an earthquake. A periodical monitoring of mental health status is recommended in mental health works, especially with regard to help with post-traumatic stress disorder, coping with work and therapeutic relationships, family and social life and economic impact.
C1 [Valenti, M.; La Malfa, G.] Careggi Hosp Agcy, Dept Psychiat, Florence, Italy.
[Tomassini, A.; Masedu, F.; Tiberti, S.] Univ Aquila, Dept Appl Clin Sci, I-67100 Laquila, Italy.
[Sorge, G.] Il Cireneo Fdn Autism, Laquila, Italy.
[Sorge, G.] Il Cireneo Fdn Autism, Vasto, Italy.
RP Valenti, M (reprint author), Univ Aquila, Dept Appl Clin Sci, Coppito Hosp Delta 6, I-67100 Laquila, Italy.
EM marco.valenti@univaq.it
RI Valenti, Marco/F-4818-2015
OI Valenti, Marco/0000-0001-9043-3456
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NR 23
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1351-0126
EI 1365-2850
J9 J PSYCHIATR MENT HLT
JI J. Psychiatr. Ment. Health Nurs.
PD APR
PY 2014
VL 21
IS 3
BP 234
EP 240
DI 10.1111/jpm.12054
PG 7
WC Nursing; Psychiatry
SC Nursing; Psychiatry
GA AB8NC
UT WOS:000332046300007
PM 23552108
ER
PT J
AU Corominas, R
Yang, XP
Lin, GN
Kang, SL
Shen, Y
Ghamsari, L
Broly, M
Rodriguez, M
Tam, S
Trigg, SA
Fan, CY
Yi, S
Tasan, M
Lemmens, I
Kuang, XY
Zhao, N
Malhotra, D
Michaelson, JJ
Vacic, V
Calderwood, MA
Roth, FP
Tavernier, J
Horvath, S
Salehi-Ashtiani, K
Korkin, D
Sebat, J
Hill, DE
Hao, T
Vidal, M
Iakoucheva, LM
AF Corominas, Roser
Yang, Xinping
Lin, Guan Ning
Kang, Shuli
Shen, Yun
Ghamsari, Lila
Broly, Martin
Rodriguez, Maria
Tam, Stanley
Trigg, Shelly A.
Fan, Changyu
Yi, Song
Tasan, Murat
Lemmens, Irma
Kuang, Xingyan
Zhao, Nan
Malhotra, Dheeraj
Michaelson, Jacob J.
Vacic, Vladimir
Calderwood, Michael A.
Roth, Frederick P.
Tavernier, Jan
Horvath, Steve
Salehi-Ashtiani, Kourosh
Korkin, Dmitry
Sebat, Jonathan
Hill, David E.
Hao, Tong
Vidal, Marc
Iakoucheva, Lilia M.
TI Protein interaction network of alternatively spliced isoforms from brain
links genetic risk factors for autism
SO NATURE COMMUNICATIONS
LA English
DT Article
ID DE-NOVO MUTATIONS; COPY-NUMBER VARIATION; GENOME-WIDE ANALYSIS; SPECTRUM
DISORDERS; STRUCTURAL VARIATION; MENTAL-RETARDATION; COMMON VARIANTS;
CONFERRING RISK; SCHIZOPHRENIA; DUPLICATIONS
AB Increased risk for autism spectrum disorders (ASD) is attributed to hundreds of genetic loci. The convergence of ASD variants have been investigated using various approaches, including protein interactions extracted from the published literature. However, these datasets are frequently incomplete, carry biases and are limited to interactions of a single splicing isoform, which may not be expressed in the disease-relevant tissue. Here we introduce a new interactome mapping approach by experimentally identifying interactions between brain-expressed alternatively spliced variants of ASD risk factors. The Autism Spliceform Interaction Network reveals that almost half of the detected interactions and about 30% of the newly identified interacting partners represent contribution from splicing variants, emphasizing the importance of isoform networks. Isoform interactions greatly contribute to establishing direct physical connections between proteins from the de novo autism CNVs. Our findings demonstrate the critical role of spliceform networks for translating genetic knowledge into a better understanding of human diseases.
C1 [Corominas, Roser; Lin, Guan Ning; Kang, Shuli; Iakoucheva, Lilia M.] Univ Calif San Diego, Dept Psychiat, La Jolla, CA 92093 USA.
[Yang, Xinping; Shen, Yun; Ghamsari, Lila; Broly, Martin; Rodriguez, Maria; Tam, Stanley; Trigg, Shelly A.; Fan, Changyu; Yi, Song; Calderwood, Michael A.; Roth, Frederick P.; Salehi-Ashtiani, Kourosh; Hill, David E.; Hao, Tong; Vidal, Marc] Dana Farber Canc Inst, Ctr Canc Syst Biol, Boston, MA 02115 USA.
[Yang, Xinping; Shen, Yun; Ghamsari, Lila; Broly, Martin; Rodriguez, Maria; Tam, Stanley; Trigg, Shelly A.; Fan, Changyu; Yi, Song; Calderwood, Michael A.; Roth, Frederick P.; Salehi-Ashtiani, Kourosh; Hill, David E.; Hao, Tong; Vidal, Marc] Dana Farber Canc Inst, Dept Canc Biol, Boston, MA 02115 USA.
[Yang, Xinping; Shen, Yun; Ghamsari, Lila; Broly, Martin; Rodriguez, Maria; Tam, Stanley; Trigg, Shelly A.; Fan, Changyu; Yi, Song; Calderwood, Michael A.; Roth, Frederick P.; Salehi-Ashtiani, Kourosh; Hill, David E.; Hao, Tong; Vidal, Marc] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA.
[Tasan, Murat; Roth, Frederick P.] Univ Toronto, Donnelly Ctr, Toronto, ON M5S 3E1, Canada.
[Tasan, Murat; Roth, Frederick P.] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 3E1, Canada.
[Tasan, Murat; Roth, Frederick P.] Univ Toronto, Dept Comp Sci, Toronto, ON M5S 3E1, Canada.
[Tasan, Murat; Roth, Frederick P.] Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Toronto, ON M5S 3E1, Canada.
[Lemmens, Irma; Tavernier, Jan] Univ Ghent VIB, Dept Med Prot Res, B-9000 Ghent, Belgium.
[Lemmens, Irma; Tavernier, Jan] Univ Ghent, Fac Med & Hlth Sci, Dept Biochem, B-9000 Ghent, Belgium.
[Kuang, Xingyan; Zhao, Nan; Korkin, Dmitry] Univ Missouri, Dept Comp Sci, Columbia, MO 65203 USA.
[Kuang, Xingyan; Zhao, Nan; Korkin, Dmitry] Univ Missouri, Inst Informat, Columbia, MO 65203 USA.
[Malhotra, Dheeraj; Michaelson, Jacob J.; Sebat, Jonathan] Univ Calif San Diego, Beyster Ctr Genom Psychiat Dis, La Jolla, CA 92093 USA.
[Malhotra, Dheeraj; Michaelson, Jacob J.; Sebat, Jonathan] Univ Calif San Diego, Dept Psychiat, La Jolla, CA 92093 USA.
[Vacic, Vladimir] New York Genome Ctr, New York, NY 10013 USA.
[Horvath, Steve] Univ Calif Los Angeles, Dept Human Genet & Biostat, Los Angeles, CA 90095 USA.
RP Hao, T (reprint author), Dana Farber Canc Inst, Ctr Canc Syst Biol, Boston, MA 02115 USA.
EM tong_hao@dfci.harvard.edu; marc_vidal@dfci.harvard.edu; lilyak@ucsd.edu
RI Roth, Frederick/H-6308-2011
FU NICHD [ARRA R01HD065288]; NIMH [R01MH091350]; NHGRI [R01HG001715];
Ellison Foundation, Boston; Dana-Farber Cancer Institute Strategic
Initiative; NIH [MH076431]; Simons Foundation Autism Research Initiative
[275724]; Canadian Institute for Advanced Research Fellowship; Canada
Excellence Research Chairs Program; National Science Foundation
[DBI-0845196, IOS-1126992]; Fonds voor Wetenschappelijk
Onderzoek-Vlaanderen (FWO); Fonds de la Recherche Scientifique
(FRS-FNRS, Wallonia-Brussels Federation, Belgium)
FX We thank all members of the DFCI Center for Cancer Systems Biology
(CCSB) for helpful discussions throughout the course of this project. We
also thank Dr Joseph Gleeson for valuable comments on the manuscript,
the members of Dr Sebat laboratory for helpful discussions and Abhishek
Bhandari, Ashleigh Schaffer and Naiara Akizu for technical assistance.
This work was supported by NIH grants ARRA R01HD065288 from NICHD to L.
M. I and K. S.-A. and by R01MH091350 from NIMH to L. M. I. and T. H.,
R01HG001715 from NHGRI to M. V., D. E. H., F. P. R. and J.T.; by The
Ellison Foundation, Boston, MA to M. V.; by Institute Sponsored Research
funds from the Dana-Farber Cancer Institute Strategic Initiative to M.
V.; by NIH (MH076431) and the Simons Foundation Autism Research
Initiative (275724) to J.S.; by a Canadian Institute for Advanced
Research Fellowship and the Canada Excellence Research Chairs Program to
F. P. R. and by National Science Foundation grants DBI-0845196 and
IOS-1126992 to D. K. I. L. is a postdoctoral fellow with the Fonds voor
Wetenschappelijk Onderzoek-Vlaanderen (FWO). M. V. is a "Chercheur
Qualifie Honoraire'' from the Fonds de la Recherche Scientifique
(FRS-FNRS, Wallonia-Brussels Federation, Belgium).
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NR 69
TC 9
Z9 9
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD APR
PY 2014
VL 5
AR 3650
DI 10.1038/comms4650
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AG2BZ
UT WOS:000335221700005
PM 24722188
ER
PT J
AU McCray, AT
Trevvett, P
Frost, HR
AF McCray, Alexa T.
Trevvett, Philip
Frost, H. Robert
TI Modeling the Autism Spectrum Disorder Phenotype
SO NEUROINFORMATICS
LA English
DT Article
DE Ontologies; Autism spectrum disorder; Behavioral phenotype; Standardized
diagnostic and screening instruments
ID PERVASIVE DEVELOPMENTAL DISORDERS; DIFFERENTIAL ABILITY SCALES;
ADAPTIVE-BEHAVIOR SCALES; CHILDRENS COMMUNICATION CHECKLIST; DIAGNOSTIC
OBSERVATION SCHEDULE; COMPLEX FIGURE TEST; EXECUTIVE FUNCTION; COMBINING
INFORMATION; REPETITIVE BEHAVIOR; MULTIPLE SOURCES
AB Autism Spectrum Disorder (ASD) is highly heritable, and although there has been active research in an attempt to discover the genetic factors underlying ASD, diagnosis still depends heavily on behavioral assessments. Recently, several large-scale initiatives, including those of the Autism Consortium, have contributed to the collection of extensive information from families affected by ASD. Our goal was to develop an ontology that can be used 1) to provide improved access to the data collected by those who study ASD and other neurodevelopmental disorders, and 2) to assess and compare the characteristics of the instruments that are used in the assessment of ASD. We analyzed two dozen instruments used to assess ASD, studying the nature of the questions asked and items assessed, the method of delivery, and the overall scope of the content. These data together with the extensive literature on ASD contributed to our iterative development of an ASD phenotype ontology. The final ontology comprises 283 concepts distributed across three high-level classes, 'Personal Traits', 'Social Competence', and 'Medical History'. The ontology is fully integrated with the Autism Consortium database, allowing researchers to pose ontology-based questions. The ontology also allows researchers to assess the degree of overlap among a set of candidate instruments according to several objective criteria. The ASD phenotype ontology has promise for use in research settings where extensive phenotypic data have been collected, allowing a concept-based approach to identifying behavioral features of importance and for correlating these with genotypic data.
C1 [McCray, Alexa T.; Trevvett, Philip; Frost, H. Robert] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA 02115 USA.
[Frost, H. Robert] Dartmouth Coll, Inst Quantitat Biomed Sci, Hanover, NH 03755 USA.
RP McCray, AT (reprint author), Harvard Univ, Sch Med, Ctr Biomed Informat, 10 Shattuck St, Boston, MA 02115 USA.
EM alexa_mccray@hms.harvard.edu
FU Anonymous Foundation; Autism Consortium; Harvard Clinical and
Translational Science Center [NIH/NCRR UL1 RR025758-01]
FX The authors were supported in part by grants from an Anonymous
Foundation, the Autism Consortium, and the Harvard Clinical and
Translational Science Center (NIH/NCRR UL1 RR025758-01). The authors
thank Juliane Schneider and Cecilia Vernes for their contributions to
the ontology and the team at MGH who developed the Autism Consortium
database, including David Pauls and Julia O'Rourke.
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World Health Organization, INT CLASS FUNCT DIS
NR 98
TC 0
Z9 0
PU HUMANA PRESS INC
PI TOTOWA
PA 999 RIVERVIEW DRIVE SUITE 208, TOTOWA, NJ 07512 USA
SN 1539-2791
EI 1559-0089
J9 NEUROINFORMATICS
JI Neuroinformatics
PD APR
PY 2014
VL 12
IS 2
BP 291
EP 305
DI 10.1007/s12021-013-9211-4
PG 15
WC Computer Science, Interdisciplinary Applications; Neurosciences
SC Computer Science; Neurosciences & Neurology
GA AG1ZV
UT WOS:000335215600006
PM 24163114
ER
PT J
AU Hviid, A
Melbye, M
Pasternak, B
AF Hviid, Anders
Melbye, Mads
Pasternak, Bjorn
TI Use of Selective Serotonin Reuptake Inhibitors During Pregnancy and Risk
for Autism
SO OBSTETRICAL & GYNECOLOGICAL SURVEY
LA English
DT Meeting Abstract
C1 [Hviid, Anders; Melbye, Mads; Pasternak, Bjorn] Statens Serum Inst, Dept Epidemiol Res, DK-2300 Copenhagen, Denmark.
NR 0
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0029-7828
EI 1533-9866
J9 OBSTET GYNECOL SURV
JI Obstet. Gynecol. Surv.
PD APR
PY 2014
VL 69
IS 4
BP 187
EP 189
DI 10.1097/OGX.0000000000000050
PG 3
WC Obstetrics & Gynecology
SC Obstetrics & Gynecology
GA AG4NQ
UT WOS:000335397400003
ER
PT J
AU Johnson, S
Marlow, N
AF Johnson, Samantha
Marlow, Neil
TI Growing up after extremely preterm birth: Lifespan mental health
outcomes
SO SEMINARS IN FETAL & NEONATAL MEDICINE
LA English
DT Review
DE Attention deficit hyperactivity disorder; Autism spectrum disorders;
Comorbidity; Mental health; Outcomes; Preterm birth
ID BORN EXTREMELY PRETERM; SOCIAL-EMOTIONAL DEVELOPMENT; SCHOOL-AGE
OUTCOMES; CHILDREN BORN; BEHAVIORAL OUTCOMES; WEIGHT CHILDREN;
ADOLESCENTS BORN; YOUNG ADULTHOOD; DIFFICULTIES QUESTIONNAIRE;
PSYCHIATRIC OUTCOMES
AB There is growing interest in the long-term mental health sequelae of extremely preterm birth. In this paper we review literature relating to mental health outcomes across the lifespan. Studies conducted in the preschool years, school age and adolescence, and adulthood show continuity in outcomes and point to an increased risk for inattention, socio-communicative problems and emotional difficulties in individuals born extremely preterm. Both behavioural and neuroimaging studies also provide evidence of a neurodevelopmental origin for mental health disorders in this population. Here we summarise contemporary evidence and highlight key methodological considerations for carrying out and interpreting studies in this field. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Johnson, Samantha] Univ Leicester, Dept Hlth Sci, Leicester LE1 6TP, Leics, England.
[Marlow, Neil] UCL, Dept Acad Neonatol, Inst Womens Hlth, London, England.
RP Johnson, S (reprint author), Univ Leicester, Dept Hlth Sci, 22-28 Princess Rd West, Leicester LE1 6TP, Leics, England.
EM sjj19@le.ac.uk
RI Marlow, Neil/D-2918-2009
OI Marlow, Neil/0000-0001-5890-2953
FU Department of Health's NIHR Biomedical Research Centres funding scheme
at UCLH/UCL
FX Neil Marlow receives a proportion of funding from the Department of
Health's NIHR Biomedical Research Centres funding scheme at UCLH/UCL.
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NR 99
TC 5
Z9 5
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1744-165X
EI 1878-0946
J9 SEMIN FETAL NEONAT M
JI Semin. Fetal Neonatal Med.
PD APR
PY 2014
VL 19
IS 2
BP 97
EP 104
DI 10.1016/j.siny.2013.11.004
PG 8
WC Pediatrics
SC Pediatrics
GA AG5WB
UT WOS:000335488300006
PM 24290907
ER
PT J
AU Duncan, LE
Pollastri, AR
Smoller, JW
AF Duncan, Laramie E.
Pollastri, Alisha R.
Smoller, Jordan W.
TI Mind the Gap Why Many Geneticists and Psychological Scientists Have
Discrepant Views About Gene-Environment Interaction (GXE) Research
SO AMERICAN PSYCHOLOGIST
LA English
DT Article
DE gene-environment interaction (GXE); genetics; depression; 5-HTTLPR;
publication bias
ID GENOME-WIDE ASSOCIATION; STRESSFUL LIFE EVENTS; DE-NOVO MUTATIONS;
SEROTONIN TRANSPORTER POLYMORPHISM; DEFICIT HYPERACTIVITY DISORDER; RARE
CHROMOSOMAL DELETIONS; BY-ENVIRONMENT INTERACTION; AUTISM SPECTRUM
DISORDERS; COPY NUMBER VARIANTS; PSYCHIATRIC-DISORDERS
AB As our field seeks to elucidate the biopsychosocial etiologies of mental health disorders, many traditional psychological and social science researchers have added, or plan to add, genetic components to their programs of research. An understanding of the history, methods, and perspectives of the psychiatric genetics community is useful in this pursuit. In this article we provide a brief overview of psychiatric genetic methods and findings. This overview lays the groundwork for a more thorough review of gene-environment interaction (GXE) research and the candidate gene approach to GXE research that remains popular among many psychologists and social scientists. We describe the differences in perspective between psychiatric geneticists and psychological scientists that have contributed to a growing divide between the research cited and conducted by these two related disciplines. Finally, we outline a strategy for the future of research on gene-environment interactions that capitalizes on the relative strengths of each discipline.
C1 [Duncan, Laramie E.] Harvard Univ, Sch Med, Broad Inst MIT & Harvard, Dept Psychiat,Stanley Ctr Psychiat Res, Cambridge, MA 02138 USA.
[Duncan, Laramie E.] Massachusetts Gen Hosp, Ctr Human Genet Res, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
[Pollastri, Alisha R.; Smoller, Jordan W.] Harvard Univ, Sch Med, Massachusetts Gen Hosp, Cambridge, MA 02138 USA.
[Pollastri, Alisha R.] Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA USA.
[Smoller, Jordan W.] Broad Inst MIT & Harvard, Cambridge, MA USA.
RP Pollastri, AR (reprint author), Massachusetts Gen Hosp, 151 Merrimac St,5th Floor, Boston, MA 02114 USA.
EM apollastri@mgh.harvard.edu
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NR 70
TC 8
Z9 8
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0003-066X
EI 1935-990X
J9 AM PSYCHOL
JI Am. Psychol.
PD APR
PY 2014
VL 69
IS 3
BP 249
EP 268
DI 10.1037/a0036320
PG 20
WC Psychology, Multidisciplinary
SC Psychology
GA AF4LZ
UT WOS:000334685500003
PM 24750075
ER
PT J
AU Duan, F
Watanabe, K
Yoshimura, Y
Kikuchi, M
Minabe, Y
Aihara, K
AF Duan, Fang
Watanabe, Katsumi
Yoshimura, Yuko
Kikuchi, Mitsuru
Minabe, Yoshio
Aihara, Kazuyuki
TI Relationship between brain network pattern and cognitive performance of
children revealed by MEG signals during free viewing of video
SO BRAIN AND COGNITION
LA English
DT Article
DE Small-world; Functional network; MEG; Child; Visual processing (Gv)
ability; Free viewing of video
ID SMALL-WORLD NETWORKS; STATE FUNCTIONAL CONNECTIVITY; GRAPH-THEORETICAL
ANALYSIS; SCHIZOPHRENIA; ORGANIZATION; EFFICIENCY; FREQUENCY; DYNAMICS;
AUTISM; EEG
AB Application of graph theory to analysis of functional networks in the brain is an important research trend. Extensive research on the resting state has shown a "small-world" organization of the brain network as a whole. However, the small-worldness of children's brain networks in a working state has not yet been well characterized. In this paper, we used a custom-made, child-sized magnetoencephalography (MEG) device to collect data from children while they were watching cartoon videos. Network structures were analyzed and compared with scores on the Kaufman Assessment Battery for Children (K-ABC). The results of network analysis showed that (1) the small-world scalar showed a negative correlation with the simultaneous processing raw score, a measure of visual processing (Gv) ability, and (2) the children with higher simultaneous processing raw scores possessed network structures that can be more efficient for local information processing than children with lower scores. These results were compatible with previous studies on the adult working state. Additional results obtained from further analysis of the frontal and occipital lobes indicated that high cognitive performance could represent better local efficiency in task-related sub-networks. Under free viewing of cartoon videos, brain networks were no longer confined to their strongest small-world states; connections became clustered in local areas such as the frontal and occipital lobes, which might be a more useful configuration for handling visual processing tasks. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Duan, Fang; Aihara, Kazuyuki] Univ Tokyo, Grad Sch Engn, Dept Elect Engn & Informat Syst, Tokyo 1538904, Japan.
[Watanabe, Katsumi] Univ Tokyo, Res Ctr Adv Sci & Technol, Tokyo 1538904, Japan.
[Yoshimura, Yuko; Kikuchi, Mitsuru; Minabe, Yoshio] Kanazawa Univ, Grad Sch Med Sci, Res Ctr Child Mental Dev, Kanazawa, Ishikawa 9208641, Japan.
[Aihara, Kazuyuki] Univ Tokyo, Inst Ind Sci, Tokyo 1538904, Japan.
RP Duan, F (reprint author), Univ Tokyo, Grad Sch Engn, Dept Elect Engn & Informat Syst, Tokyo 1538904, Japan.
EM duan@sat.t.u-tokyo.ac.jp
FU Aihara Innovative Mathematical Modelling Project; Japan Society for the
Promotion of Science (JSPS); Council for Science and Technology Policy
(CSTP)
FX This research is supported by the Aihara Innovative Mathematical
Modelling Project, the Japan Society for the Promotion of Science (JSPS)
through the "Funding Program for World-Leading Innovative R&D on Science
and Technology (FIRST Program)", initiated by the Council for Science
and Technology Policy (CSTP).
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NR 32
TC 0
Z9 0
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0278-2626
EI 1090-2147
J9 BRAIN COGNITION
JI Brain Cogn.
PD APR
PY 2014
VL 86
BP 10
EP 16
DI 10.1016/j.bandc.2014.01.011
PG 7
WC Neurosciences; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AF2VP
UT WOS:000334570900002
PM 24525012
ER
PT J
AU Ludlow, A
Mohr, B
Whitmore, A
Garagnani, M
Pulvermuller, F
Gutierrez, R
AF Ludlow, Amanda
Mohr, Bettina
Whitmore, Antony
Garagnani, Max
Pulvermueller, Friedmann
Gutierrez, Roberto
TI Auditory processing and sensory behaviours in children with autism
spectrum disorders as revealed by mismatch negativity
SO BRAIN AND COGNITION
LA English
DT Article
DE EEG; Sensory behaviours; Auditory processing; Language
ID EVENT-RELATED POTENTIALS; HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME;
TYPICAL DEVELOPMENT; SPEECH; DISCRIMINATION; PERCEPTION; FEATURES;
MOTOR; ABNORMALITIES
AB Sensory dysfunctions may underlie key characteristics in children with Autism Spectrum Disorders (ASD). The current study aimed to investigate auditory change detection in children with ASD in order to determine event-related potentials to meaningless and meaningful speech stimuli. 11 high functioning boys with a diagnosis of autism spectrum disorders (mean age = 13.0; SD = 1.08) and 11 typically developing boys (mean age = 13.7; SD = 1.5) participated in a mismatch negativity (MMN) paradigm. Results revealed that compared to TD controls, the children with ASD showed significantly reduced MMN responses to both words and pseudowords in the frontal regions of the brain and also a significant reduction in their activation for words in the Central Parietal regions. In order to test the relationship between sensory processing and auditory processing, children completed the Adult and Adolescent Sensory Profile. As predicted, the children with ASD showed more extreme sensory behaviours and were significantly higher than their typically developing controls across three of the sensory quadrants (sensory sensitivity, low registration and sensory avoidance). Importantly, only auditory sensory sensitivity was able to account for the differences displayed for words in the frontal and central parietal regions when controlling for the effect of group, revealing an inverse relationship of the higher sensory sensitivity scores the less activation in response for words. We discuss how the expression of sensory behaviours in ASD may result in deficient neurophysiological mechanisms underlying automatic language processing. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Ludlow, Amanda; Gutierrez, Roberto] Univ Hertfordshire, Dept Psychol, Hatfield AL10 9AB, Herts, England.
[Ludlow, Amanda] Univ Birmingham, Sch Psychol, Edgbaston, England.
[Mohr, Bettina] Charite, Dept Psychiat, D-13353 Berlin, Germany.
[Whitmore, Antony] Anglia Ruskin Univ, Dept Psychol, Cambridge, England.
[Garagnani, Max; Pulvermueller, Friedmann] Free Univ Berlin, Brain Language Lab, Berlin, Germany.
RP Ludlow, A (reprint author), Univ Hertfordshire, Dept Psychol, Hatfield AL10 9AB, Herts, England.
EM a.ludlow@herts.ac.uk
FU Anglia Ruskin University, Cambridge
FX We would like to thank all the children for taking part in the study and
also their parents for their co-operation in our research. This work was
supported by a Research Enhancement Grant from Anglia Ruskin University,
Cambridge.
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NR 59
TC 2
Z9 2
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0278-2626
EI 1090-2147
J9 BRAIN COGNITION
JI Brain Cogn.
PD APR
PY 2014
VL 86
BP 55
EP 63
DI 10.1016/j.bandc.2014.01.016
PG 9
WC Neurosciences; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AF2VP
UT WOS:000334570900007
PM 24565813
ER
PT J
AU Mazur-Kolecka, B
Cohen, IL
Gonzalez, M
Jenkins, EC
Kaczmarski, W
Brown, WT
Flory, M
Frackowiak, J
AF Mazur-Kolecka, Bozena
Cohen, Ira L.
Gonzalez, Maripaz
Jenkins, Edmund C.
Kaczmarski, Wojciech
Brown, W. Ted
Flory, Michael
Frackowiak, Janusz
TI Autoantibodies against neuronal progenitors in sera from children with
autism
SO BRAIN & DEVELOPMENT
LA English
DT Article
DE Autism; Autoantibodies; Neurogenesis; Cell culture; Neuronal progenitor
cells
ID ADULT HIPPOCAMPAL NEUROGENESIS; NEURAL PRECURSOR CELLS; SPECTRUM
DISORDERS; ANTIBRAIN ANTIBODIES; FETAL-BRAIN; PROTEINS; DIFFERENTIATION;
PROLIFERATION; ACTIVATION; OLFACTION
AB The pathological role of autoantibodies in development of CNS disorders is a new idea with growing interest among neuroscientist The involvement of autoimmune response in the pathogenesis of autism spectrum disorders (ASD) has been suggested by the presence of multiple brain-specific autoantibodies in children with ASD and in their mothers. The possibility of the effect of autoimmunity on neurogenesis and postnatal brain plasticity has not been determined. The presence of autoantibodies against human neuronal progenitor cells (NPCs) stimulated for neuronal differentiation in culture was tested in sera from children with autism (n = 20) and age-matched controls (n = 18) by immunoblotting and immunocytochemistry. Immunoreactivity against multiple NPCs proteins of molecular sizes of approximately 55 kDa, 105 kDa, 150 kDa, and 210 kDa in sera from individuals with autism had a higher incidence and was stronger than in control sera which immunoreacted mainly with a 150 kDa protein. The sera from children with autism immunoreacted the strongest with NPCs expressing neuronal markers Tuj1 and doublecortin, but not astrocyte market GFAP. The epitopes recognized by antibodies from sera were not human-specific because they detected also NPCs in situ in murine hippocampus. The autoimmune reactions against NPCs suggest an impaired tolerance to neural antigens in autism. These autoantibodies may be symptomatic for autism and furthermore, their presence suggests that autoimmunity may affect postnatal neuronal plasticity particularly after impairment of blood brain barrier. Future studies will determine the diagnostic value of the presence of autoantibodies in autism and the therapeutic value of prevention of autoimmunity in autism. Published by Elsevier B.V. on behalf of The Japanese Society of Child Neurology.
C1 [Mazur-Kolecka, Bozena; Kaczmarski, Wojciech; Frackowiak, Janusz] New York State Inst Basic Res Dev Disabil, Dept Dev Neurobiol, Staten Isl, NY 10314 USA.
[Cohen, Ira L.; Gonzalez, Maripaz] NYS IBRDD, Dept Psychol, New York, NY USA.
[Jenkins, Edmund C.; Brown, W. Ted] NYS IBRDD, Dept Human Genet, New York, NY USA.
[Flory, Michael] NYS IBRDD, Lab Res Design & Anal, New York, NY USA.
RP Mazur-Kolecka, B (reprint author), New York State Inst Basic Res Dev Disabil, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA.
EM bozena.mazur-kolecka@opwdd.ny.us
FU New York State Office for People with Developmental Disabilities
FX Supported by funds from the New York State Office for People with
Developmental Disabilities.
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NR 41
TC 4
Z9 4
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0387-7604
EI 1872-7131
J9 BRAIN DEV-JPN
JI Brain Dev.
PD APR
PY 2014
VL 36
IS 4
BP 322
EP 329
DI 10.1016/j.braindev.2013.04.015
PG 8
WC Clinical Neurology
SC Neurosciences & Neurology
GA AF6JP
UT WOS:000334821600009
PM 23838310
ER
PT J
AU Graham, F
Rodger, S
Ziviani, J
AF Graham, Fiona
Rodger, Sylvia
Ziviani, Jenny
TI Mothers' experiences of engaging in Occupational Performance Coaching
SO BRITISH JOURNAL OF OCCUPATIONAL THERAPY
LA English
DT Article
DE Professional-patient relations; motor skills disorders; child behaviour
disorders; child; parenting; patient satisfaction
ID CHILDREN; PARENTS; PARTICIPATION; THERAPY; INTERVENTION; COMPETENCE;
DISORDER; AUTISM; IMPACT; MODEL
AB Introduction: Occupational Performance Coaching is an intervention provided to parents, which targets their goals in occupational performance for themselves and their children. Preliminary evidence points to its effectiveness; however, little is known about parents' experiences of engaging in Occupational Performance Coaching.
Method: Within a larger mixed methods study, a purpose-designed survey comprising open and closed questions was used to explore parents' (N = 29) experiences of engaging in Occupational Performance Coaching. The survey targeted their impressions, learning experiences, and perceptions of the impact of Occupational Performance Coaching. Numerical data were analysed descriptively; written comments were analysed using content analysis. In this case all participants were mothers.
Findings: Mothers' descriptions of Occupational Performance Coaching were largely positive. Learning experiences included gaining insights about themselves and their children alongside learning specific strategies to support their children's occupational performance. They reported greater understanding of their children and a perception that Occupational Performance Coaching had engendered a calmer, happier emotional tone within the family.
Conclusion: Mothers perceived Occupational Performance Coaching as a valuable means to support their children and themselves to attain occupational performance goals. Findings prompt greater attention to coaching approaches and, more widely, the use of transformative learning as a means to enabling occupation.
C1 [Graham, Fiona] Univ Otago Med, Christchurch, New Zealand.
[Rodger, Sylvia] Autism CRC, Brisbane, Qld, Australia.
[Rodger, Sylvia; Ziviani, Jenny] Univ Queensland, Sch Hlth & Rehabil Sci, Brisbane, Qld, Australia.
[Ziviani, Jenny] Childrens Hlth Queensland, Childrens Allied Hlth Res, Brisbane, Qld, Australia.
RP Graham, F (reprint author), Univ Otago, 7 Blakehall Pl, Christchurch 8024, New Zealand.
EM fi.graham@otago.ac.nz
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NR 37
TC 0
Z9 0
PU COLL OCCUPATIONAL THERAPISTS LTD
PI SOUTHWARK
PA 106-114 BOROUGH HIGH ST, SOUTHWARK, LONDON SE1 1LB, ENGLAND
SN 0308-0226
EI 1477-6006
J9 BRIT J OCCUP THER
JI Br. J. Occup. Ther.
PD APR
PY 2014
VL 77
IS 4
BP 189
EP 197
DI 10.4276/030802214X13968769798791
PG 9
WC Rehabilitation
SC Rehabilitation
GA AF3WZ
UT WOS:000334644700006
ER
PT J
AU Jacobson, L
AF Jacobson, Lauren
TI Hypothalamic-Pituitary-Adrenocortical Axis: Neuropsychiatric Aspects
SO COMPREHENSIVE PHYSIOLOGY
LA English
DT Article
ID OBSESSIVE-COMPULSIVE DISORDER; CORTICOTROPIN-RELEASING HORMONE;
POSTTRAUMATIC-STRESS-DISORDER; DEXAMETHASONE-SUPPRESSION TEST; MAJOR
DEPRESSIVE DISORDER; URINARY FREE-CORTISOL; GENERALIZED ANXIETY
DISORDER; TREATMENT-RESISTANT DEPRESSION; II CORTICOSTEROID RECEPTORS;
PLACEBO-CONTROLLED TRIAL
AB Evidence of aberrant hypothalamic-pituitary-adrenocortical (HPA) activity in many psychiatric disorders, although not universal, has sparked long-standing interest in HPA hormones as biomarkers of disease or treatment response. HPA activity may be chronically elevated in melancholic depression, panic disorder, obsessive-compulsive disorder, and schizophrenia. The HPA axis may be more reactive to stress in social anxiety disorder and autism spectrum disorders. In contrast, HPA activity is more likely to be low in PTSD and atypical depression. Antidepressants are widely considered to inhibit HPA activity, although inhibition is not unanimously reported in the literature. There is evidence, also uneven, that the mood stabilizers lithium and carbamazepine have the potential to augment HPA measures, while benzodiazepines, atypical antipsychotics, and to some extent, typical antipsychotics have the potential to inhibit HPA activity. Currently, the most reliable use of HPA measures in most disorders is to predict the likelihood of relapse, although changes in HPA activity have also been proposed to play a role in the clinical benefits of psychiatric treatments. Greater attention to patient heterogeneity and more consistent approaches to assessing treatment effects on HPA function may solidify the value of HPA measures in predicting treatment response or developing novel strategies to manage psychiatric disease. (C) 2014 American Physiological Society.
C1 Albany Med Coll, Albany, NY 12208 USA.
RP Jacobson, L (reprint author), Albany Med Coll, Albany, NY 12208 USA.
EM JacobsL@mail.amc.edu
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NR 466
TC 2
Z9 2
PU JOHN WILEY & SONS INC
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN, NJ 07030 USA
SN 2040-4603
J9 COMPR PHYSIOL
JI Compr. Physiol.
PD APR
PY 2014
VL 4
IS 2
BP 715
EP 738
DI 10.1002/cphy.c130036
PG 24
WC Physiology
SC Physiology
GA AE9SP
UT WOS:000334350100006
PM 24715565
ER
PT J
AU Couper, L
van der Meer, L
Schaefer, MCM
McKenzie, E
McLay, L
O'Reilly, MF
Lancioni, GE
Marschik, PB
Sigafoos, J
Sutherland, D
AF Couper, Llyween
van der Meer, Larah
Schaefer, Martina C. M.
McKenzie, Emma
McLay, Laurie
O'Reilly, Mark F.
Lancioni, Giulio E.
Marschik, Peter B.
Sigafoos, Jeff
Sutherland, Dean
TI Comparing acquisition of and preference for manual signs, picture
exchange, and speech-generating devices in nine children with autism
spectrum disorder
SO DEVELOPMENTAL NEUROREHABILITATION
LA English
DT Article
DE Augmentative and alternative communication; autism spectrum disorder;
iPad (R); iPod (R); manual sign; picture-exchange; preference
assessment; speech-generating device
ID COMMUNICATION-SYSTEM PECS; DEVELOPMENTAL-DISABILITIES; ALTERNATIVE
COMMUNICATION; COMPARATIVE EFFICACY; STUDENTS; SKILLS; MODES
AB Objective: To compare how quickly children with autism spectrum disorder (ASD) acquired manual signs, picture exchange, and an iPad (R)/iPod (R)-based speech-generating device (SGD) and to compare if children showed a preference for one of these options.
Method: Nine children with ASD and limited communication skills received intervention to teach requesting preferred stimuli using manual signs, picture exchange, and a SGD. Intervention was evaluated in a non-concurrent multiple-baseline across participants and alternating treatments design.
Results: Five children learned all three systems to criterion. Four children required fewer sessions to learn the SGD compared to manual signs and picture exchange. Eight children demonstrated a preference for the SGD.
Conclusion: The results support previous studies that demonstrate children with ASD can learn manual signs, picture exchange, and an iPad (R)/iPod (R)-based SGD to request preferred stimuli. Most children showed a preference for the SGD. For some children, acquisition may be quicker when learning a preferred option.
C1 [Couper, Llyween; Schaefer, Martina C. M.; McKenzie, Emma; McLay, Laurie; Sutherland, Dean] Univ Canterbury, Coll Educ, Sch Hlth Sci, Christchurch 8140, New Zealand.
[van der Meer, Larah; Sigafoos, Jeff] Victoria Univ Wellington, Sch Educ Psychol, Wellington, New Zealand.
[O'Reilly, Mark F.] Univ Texas Austin, Meadows Ctr Preventing Educ Risk, Austin, TX 78712 USA.
[Lancioni, Giulio E.] Univ Bari, Dept Neurosci & Sense Organs, Bari, Italy.
[Marschik, Peter B.] Med Univ Graz, Inst Physiol, iDN Interdisciplinary Dev Neurosci, Graz, Austria.
RP Sutherland, D (reprint author), Univ Canterbury, Coll Educ, Sch Hlth Sci, Private Bag 4800, Christchurch 8140, New Zealand.
EM dean.sutherland@canterbury.ac.nz
FU New Zealand Government through the Marsden Fund Council; Victoria
University of Wellington; University of Canterbury; New Zealand
Institute of Language, Brain Behaviour
FX This study was supported by a grant from the New Zealand Government
through the Marsden Fund Council, administered by the Royal Society of
New Zealand; and by Victoria University of Wellington, The University of
Canterbury, and The New Zealand Institute of Language, Brain &
Behaviour.
CR Boesch MC, 2013, RES AUTISM SPECT DIS, V7, P480, DOI 10.1016/j.rasd.2012.12.002
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Mirenda P., 2013, AUGMENTATIVE ALTERNA, V4th
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van der Meer LAJ, 2010, DEV NEUROREHABIL, V13, P294, DOI 10.3109/17518421003671494
NR 20
TC 4
Z9 4
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1751-8423
EI 1751-8431
J9 DEV NEUROREHABIL
JI Dev. Neurorehabil.
PD APR
PY 2014
VL 17
IS 2
BP 99
EP 109
DI 10.3109/17518423.2013.870244
PG 11
WC Clinical Neurology; Pediatrics; Rehabilitation
SC Neurosciences & Neurology; Pediatrics; Rehabilitation
GA AE9DA
UT WOS:000334303400005
PM 24392652
ER
PT J
AU Allen, AA
Shane, HC
AF Allen, Anna A.
Shane, Howard C.
TI Autism spectrum disorders in the era of mobile technologies: Impact on
caregivers
SO DEVELOPMENTAL NEUROREHABILITATION
LA English
DT Article
DE AAC; autism; mobile technology; parents; stress
ID COMPUTER-BASED INTERVENTIONS; PARENTING STRESS;
DEVELOPMENTAL-DISABILITIES; ALTERNATIVE COMMUNICATION; BEHAVIOR
PROBLEMS; YOUNG-CHILDREN; INDIVIDUALS; CHALLENGES; MOTHERS; IPAD
AB Objective: This paper explores possible connections among existing literature on parental stress, augmentative and alternative communication (AAC), and use of mobile technology for persons with autism spectrum disorder (ASD). Methods: A narrative review of the literature. Results: Parental support contributes to positive outcomes for children who use AAC. Parents identify communication as a high priority, but describe the process as challenging. AAC is often used with children with ASD, a population in which parental stress is especially high. Though there is research evidence that mobile technology is a promising tool for individuals with ASD, potentially misleading media anecdotes exist, and the effects on parental expectations and stress remain unstudied questions. Conclusion: Increased understanding of the connections in these research areas should help clarify the potential impact of mobile technologies on parental stress level, help to define appropriate future research directions, and contribute to development of appropriate caregiver training.
C1 [Allen, Anna A.] MGH Inst Hlth Profess, Dept Commun Sci & Disorders, Boston, MA 02129 USA.
[Shane, Howard C.] Boston Childrens Hosp, Ctr Commun Enhancement, Waltham, MA USA.
RP Allen, AA (reprint author), MGH Inst Hlth Profess, Dept Commun Sci & Disorders, 36 1st Ave, Boston, MA 02129 USA.
EM aallen@mghihp.edu
CR Altiere MJ, 2009, J INTELLECT DEV DIS, V34, P142, DOI 10.1080/13668250902845202
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Story L., 2007, NY TIMES
NR 60
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1751-8423
EI 1751-8431
J9 DEV NEUROREHABIL
JI Dev. Neurorehabil.
PD APR
PY 2014
VL 17
IS 2
BP 110
EP 114
DI 10.3109/17518423.2014.882425
PG 5
WC Clinical Neurology; Pediatrics; Rehabilitation
SC Neurosciences & Neurology; Pediatrics; Rehabilitation
GA AE9DA
UT WOS:000334303400006
PM 24694311
ER
PT J
AU Donato, C
Shane, HC
Hemsley, B
AF Donato, Cynthia
Shane, Howard C.
Hemsley, Bronwyn
TI Exploring the feasibility of the Visual Language in Autism program for
children in an early intervention group setting: Views of parents,
educators, and health professionals
SO DEVELOPMENTAL NEUROREHABILITATION
LA English
DT Article
DE Autism; children; disability; early intervention; visual language;
visual supports
ID SPECTRUM DISORDERS; DOWN-SYNDROME; GRAPHIC SYMBOLS; YOUNG-CHILDREN;
COMMUNICATION; INDIVIDUALS; VOICE
AB Objective: To explore the views of key stakeholders on using visual supports for children with developmental disabilities in early intervention group settings. Specifically, this study aimed to determine stakeholders' views on the barriers to and facilitators for the use of visual supports in these settings to inform the feasibility of implementing an immersive Visual Language in Autism program. Methods: This study involved three focus groups of parents, educators, and health professionals at one Australian early intervention group setting. Results: Lack of time, limited services, negative attitudes in society, and inconsistent use were cited as common barriers to using visual supports. Facilitators included having access to information and evidence on visual supports, increased awareness of visual supports, and the use of mobile technologies. Conclusion: The Visual Language in Autism program is feasible in early intervention group settings, if barriers to and facilitators for its use are addressed to enable an immersive visual language experience.
C1 [Donato, Cynthia; Hemsley, Bronwyn] Univ Newcastle, Fac Educ & Arts, Sch Humanities & Social Sci, Callaghan, NSW 2308, Australia.
[Shane, Howard C.] Harvard Univ, Dept Otolaryngol & Commun Enhancement, Boston Childrens Hosp, Boston, MA 02115 USA.
RP Donato, C (reprint author), Univ Newcastle, Fac Educ & Arts, Sch Humanities & Social Sci, Level 2,Gen Purpose Bldg,Univ Dr, Callaghan, NSW 2308, Australia.
EM cynthia.donato@uon.edu.au
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NR 37
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1751-8423
EI 1751-8431
J9 DEV NEUROREHABIL
JI Dev. Neurorehabil.
PD APR
PY 2014
VL 17
IS 2
BP 115
EP 124
DI 10.3109/17518423.2014.880526
PG 10
WC Clinical Neurology; Pediatrics; Rehabilitation
SC Neurosciences & Neurology; Pediatrics; Rehabilitation
GA AE9DA
UT WOS:000334303400007
PM 24564265
ER
PT J
AU Tan, XY
Trembath, D
Bloomberg, K
Iacono, T
Caithness, T
AF Tan, Xuet Ying
Trembath, David
Bloomberg, Karen
Iacono, Teresa
Caithness, Teena
TI Acquisition and generalization of key word signing by three children
with autism
SO DEVELOPMENTAL NEUROREHABILITATION
LA English
DT Article
DE Autism; manual sign; treatment; augmentative communication
ID ALTERNATIVE COMMUNICATION; LANGUAGE; INTERVENTION
AB Objective: The aim of this study was to examine the effect of Key Word Sign (KWS) intervention on the acquisition and generalization of manual signing among three children with Autism Spectrum Disorder (ASD), and to measure any changes in their production of spoken words and gestures following intervention.
Methods: A multiple baseline single-case experimental design was used to measure changes for each of the three children.
Results: All three children began using signs following the introduction of the KWS intervention, and generalized their use of some signs across activities. The introduction of the intervention was associated with either neutral, or statistically significantly positive, changes in the children's production of spoken words and natural gestures.
Conclusion: The results provide preliminary evidence for the effectiveness of KWS for preschool children with ASD, which parents, therapists, and educators can use to inform clinical practice.
C1 [Tan, Xuet Ying; Bloomberg, Karen; Caithness, Teena] La Trobe Univ, Melbourne, Vic, Australia.
[Trembath, David] Griffith Univ, Griffith Hlth Inst, Southport, Qld 4222, Australia.
[Trembath, David] La Trobe Univ, Olga Tennison Autism Res Ctr, Melbourne, Vic, Australia.
[Iacono, Teresa] La Trobe Univ, La Trobe Rural Hlth Sch, Bendigo, Australia.
RP Trembath, D (reprint author), Griffith Univ, Griffith Hlth Inst, Gold Coast Campus, Southport, Qld 4222, Australia.
EM d.trembath@griffith.edu.au
FU La Trobe University, Faculty of Health Sciences
FX The authors report no conflicts of interest. The authors alone are
responsible for the content and writing of this article. The study was
conducted with the support of a La Trobe University, Faculty of Health
Sciences research grant.
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NR 40
TC 1
Z9 1
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1751-8423
EI 1751-8431
J9 DEV NEUROREHABIL
JI Dev. Neurorehabil.
PD APR
PY 2014
VL 17
IS 2
BP 125
EP 136
DI 10.3109/17518423.2013.863236
PG 12
WC Clinical Neurology; Pediatrics; Rehabilitation
SC Neurosciences & Neurology; Pediatrics; Rehabilitation
GA AE9DA
UT WOS:000334303400008
PM 24393060
ER
PT J
AU Ruppe, V
Dilsiz, P
Reiss, CS
Carlson, C
Devinsky, O
Zagzag, D
Weiner, HL
Talos, DM
AF Ruppe, Veronique
Dilsiz, Pelin
Reiss, Carol Shoshkes
Carlson, Chad
Devinsky, Orrin
Zagzag, David
Weiner, Howard L.
Talos, Delia M.
TI Developmental brain abnormalities in tuberous sclerosis complex: A
comparative tissue analysis of cortical tubers and perituberal cortex
SO EPILEPSIA
LA English
DT Article
DE Epileptogenesis; Peri-tuber; Mammalian target of rapamycin;
Hypomyelination; Axons
ID WHITE-MATTER; MOUSE MODEL; CEREBRAL-CORTEX; TUMOR SUPPRESSORS; MAMMALIAN
TARGET; SEVERE EPILEPSY; MOSSY FIBERS; FETAL-BRAIN; GIANT-CELLS; TSC1
AB Objective
Genetic loss of Tsc1/Tsc2 function in tuberous sclerosis complex (TSC) results in altered mammalian target of rapamycin (mTOR) signaling and abnormal brain development. Although earlier studies have focused on characterization of cortical tubers, in this study we sought to examine the unique cellular and molecular features of the perituberal cortex in order to better understand its contribution to epileptogenesis, cognitive dysfunction, and autism.
Methods
Standard histologic and immunohistochemical labeling was used to assess structural abnormalities and cell-specific pattern of mTORC1 activation in surgically resected cortical tubers and perituberal cortex. Western blotting was performed to quantify the expression of the mTORC1 and mTORC2 biomarkers phospho-S6 (Ser235/236), phospho-S6 (Ser240/244), and phospho-Akt (Ser473), in addition to evaluating the differential expression levels of several neuronal and glial-specific proteins in tubers and peritubers, as compared to non-TSC epilepsy specimens.
Results
Tubers demonstrated mild to severe disruption of cortical lamination, the presence of pS6-positive dysplastic neurons and giant cells, an overall increase in mTORC1 and a decrease in mTORC2 activity, increased axonal connectivity and growth, and hypomyelination. Perituberal cortex presented similar histologic, immunohistochemical, and molecular features; however, they were overall milder. Axonal growth was specific for TSC and was negatively correlated with deficient myelination.
Significance
Our results show an extension of cellular dysplasia and dysregulated mTOR signaling in the perituberal tissue, and demonstrate for the first time aberrant connectivity in human TSC brain. This study provides new insights into the pathophysiology of neurologic dysfunction associated with TSC and supports the intrinsic epileptogenicity of normal-appearing perituberal cortex.
A PowerPoint slide summarizing this article is available for download in the Supporting Information section .
C1 [Ruppe, Veronique; Dilsiz, Pelin; Carlson, Chad; Devinsky, Orrin; Talos, Delia M.] NYU, Sch Med, Dept Neurol, New York, NY USA.
[Reiss, Carol Shoshkes] NYU, Dept Biol & Neural Sci, New York, NY USA.
[Devinsky, Orrin; Zagzag, David; Weiner, Howard L.] NYU, Sch Med, Dept Neurosurg, New York, NY USA.
[Devinsky, Orrin] NYU, Sch Med, Dept Psychiat, New York, NY USA.
[Zagzag, David] NYU, Sch Med, Dept Pathol, New York, NY USA.
RP Talos, DM (reprint author), Univ Penn, Perelman Sch Med, Dept Neurol, 263 Clin Res Bldg,415 Curie Blvd, Philadelphia, PA 19104 USA.
EM talosd@mail.med.upenn.edu
FU FACES (Finding a Cure for Epilepsy and Seizures); James Shaw Foundation;
Tuberous Sclerosis Alliance; National Institute of Child Health and
Human Development (NICHD) Brain and Tissue Bank for Developmental
Disorders at the University of Maryland, Baltimore, MD [HHSN275200
900011C, N01-HD-9-0011]
FX This work was supported by FACES (Finding a Cure for Epilepsy and
Seizures) to D. M. T.), the James Shaw Foundation (to D. M. T.), and the
Tuberous Sclerosis Alliance (to H. L. W.). Control human tissue was
obtained from the National Institute of Child Health and Human
Development (NICHD) Brain and Tissue Bank for Developmental Disorders at
the University of Maryland, Baltimore, MD, contract HHSN275200 900011C,
Ref. No. N01-HD-9-0011.
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NR 73
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0013-9580
EI 1528-1167
J9 EPILEPSIA
JI Epilepsia
PD APR
PY 2014
VL 55
IS 4
BP 539
EP 550
DI 10.1111/epi.12545
PG 12
WC Clinical Neurology
SC Neurosciences & Neurology
GA AF4BS
UT WOS:000334657000017
PM 24512506
ER
PT J
AU Baasch, AL
Huning, I
Gilissen, C
Klepper, J
Veltman, JA
Gillessen-Kaesbach, G
Hoischen, A
Lohmann, K
AF Baasch, Anna-Lena
Huening, Irina
Gilissen, Christian
Klepper, Joerg
Veltman, Joris A.
Gillessen-Kaesbach, Gabriele
Hoischen, Alexander
Lohmann, Katja
TI Exome sequencing identifies a de novo SCN2A mutation in a patient with
intractable seizures, severe intellectual disability, optic atrophy,
muscular hypotonia, and brain abnormalities
SO EPILEPSIA
LA English
DT Article
DE Epilepsy; Rett-like syndrome; Intellectual disability; Epileptic
encephalopathy; Sodium channel
ID NEONATAL-INFANTILE SEIZURES; HUMAN GENETIC-DISEASE; EPILEPTIC
ENCEPHALOPATHIES; SODIUM; EPILEPSIES; CHILDREN; CHANNELS
AB Epilepsy is a phenotypically and genetically highly heterogeneous disorder with >200 genes linked to inherited forms of the disease. To identify the underlying genetic cause in a patient with intractable seizures, optic atrophy, severe intellectual disability (ID), brain abnormalities, and muscular hypotonia, we performed exome sequencing in a 5-year-old girl and her unaffected parents. In the patient, we detected a novel, de novo missense mutation in the SCN2A (c.5645G>T; p.R1882L) gene encoding the alpha(II)-subunit of the voltage-gated sodium channel Na(v)1.2. A literature review revealed 33 different SCN2A mutations in 14 families with benign forms of epilepsy and in 21 cases with severe phenotypes. Although almost all benign mutations were inherited, the majority of severe mutations occurred de novo. Of interest, de novo SCN2A mutations have also been reported in five patients without seizures but with ID (n=3) and/or autism (n=3). In the present study, we successfully used exome sequencing to detect a de novo mutation in a genetically heterogeneous disorder with epilepsy and ID. Using this approach, we expand the phenotypic spectrum of SCN2A mutations. Our own and literature data indicate that SCN2A-linked severe phenotypes are more likely to be caused by de novo mutations.
A PowerPoint slide summarizing this article is available for download in the Supporting Information section .
C1 [Baasch, Anna-Lena; Lohmann, Katja] Med Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany.
[Huening, Irina; Gillessen-Kaesbach, Gabriele] Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany.
[Gilissen, Christian; Veltman, Joris A.; Hoischen, Alexander] Radboud Univ Nijmegen Med Ctr, Nijmegen Ctr Mol Life Sci, Inst Genet & Metab Dis, Dept Human Genet, Nijmegen, Netherlands.
[Klepper, Joerg] Childrens Hosp Aschaffenburg, Aschaffenburg, Germany.
RP Lohmann, K (reprint author), Med Univ Lubeck, Inst Neurogenet, Ratzeburger Allee 160, D-23538 Lubeck, Germany.
EM katja.lohmann@neuro.uni-luebeck.de
RI Gilissen, Christian/E-5246-2012; Veltman, Joris/F-5128-2010
OI Gilissen, Christian/0000-0003-1693-9699;
FU Renate Maass foundation; University of Lubeck
FX The authors would like to thank the patients for their participation and
support of this study. This work was supported by a grant from the
Renate Maass foundation (to KL) and intramural funding of the University
of Lubeck "Schwerpunktprogramm: Medizinische Genetik - Von seltenen
Varianten zur Krankheitsentstehung" (to GGK and KL).
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NR 29
TC 2
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0013-9580
EI 1528-1167
J9 EPILEPSIA
JI Epilepsia
PD APR
PY 2014
VL 55
IS 4
BP E25
EP E29
DI 10.1111/epi.12554
PG 5
WC Clinical Neurology
SC Neurosciences & Neurology
GA AF4BS
UT WOS:000334657000001
PM 24579881
ER
PT J
AU Henninger, NA
Taylor, JL
AF Henninger, Natalie A.
Taylor, Julie Lounds
TI Family Perspectives on a Successful Transition to Adulthood for
Individuals With Disabilities
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE intellectual and developmental disabilities; transition to adulthood;
families
ID QUALITATIVE CONTENT-ANALYSIS; AUTISM SPECTRUM DISORDERS; YOUNG-ADULTS;
HIGH-SCHOOL; OF-LIFE; PARENTS; ADOLESCENCE; CHILDHOOD; SERVICES;
CHILDREN
AB When researchers evaluate adult outcomes for individuals with intellectual and/or developmental disabilities (IDD), the perspective of families is not always considered. Parents of individuals with IDD (N = 198) answered an online survey about their definition of a successful transition to adulthood. Content analysis was used to describe themes and ideas present in the responses. Rather than focusing only on developmental tasks of adulthood, such as living independently, being competitively employed, and maintaining friendships, responses reflected a more varied and dynamic view of success in adulthood, taking into account the fit between the person with IDD and his or her environment. As services are developed and implemented for adults with IDD, it is important to consider the full range of goals that families have for their son or daughter's successful transition to adulthood.
C1 [Henninger, Natalie A.; Taylor, Julie Lounds] Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA.
RP Henninger, NA (reprint author), Vanderbilt Kennedy Ctr, 406A One Magnolia Circle, Nashville, TN 37203 USA.
EM Julie.l.taylor@vanderbilt.edu
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NR 34
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD APR
PY 2014
VL 52
IS 2
BP 98
EP 111
DI 10.1352/1934-9556-52.2.98
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AF1WI
UT WOS:000334504200002
PM 24725109
ER
PT J
AU Williamson, HJ
Perkins, EA
AF Williamson, Heather J.
Perkins, Elizabeth A.
TI Family Caregivers of Adults With Intellectual and Developmental
Disabilities: Outcomes Associated With US Services and Supports
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE caregiver assessment; quality of life; disability service systems;
formal and informal supports
ID QUALITY-OF-LIFE; MENTAL-RETARDATION; AGING MOTHERS; DOWN-SYNDROME;
PUBLIC-HEALTH; PARENTS; HOME; CHILDREN; AUTISM; NEEDS
AB Individuals with intellectual and developmental disabilities (IDD) in the U.S. predominantly live with their family caregivers. As care delivery and support systems vary widely globally, consideration of caregiver outcomes specifically in the U.S. context is needed. A systematic literature review was conducted to identify U.S. family caregiver outcomes and their association with existing services and supports for family caregivers of adults with IDD. Twenty-four articles were compiled using the PubMed, Web of Knowledge, PsychInfo, and CINAHL databases. Studies report economic, mental, and physical health outcomes from caregiving roles. The need for comprehensive caregiver assessment is discussed. Understanding and responding to the changing needs of family caregivers is vital to the U.S. disability service system to effectively prioritize formal resources and services.
C1 [Williamson, Heather J.] Univ S Florida, Coll Publ Hlth, Dept Community & Family Hlth, Tampa, FL 33612 USA.
[Perkins, Elizabeth A.] Univ S Florida, Florida Ctr Inclus Communities UCEDD, Tampa, FL 33612 USA.
RP Williamson, HJ (reprint author), Univ S Florida, Coll Publ Hlth, Dept Community & Family Hlth, 13201 Bruce B Downs Blvd,MDC0056, Tampa, FL 33612 USA.
EM hwillia1@health.usf.edu
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Yamaki K, 2009, INTELLECT DEV DISAB, V47, P425, DOI 10.1352/1934-9556-47.6.425
NR 64
TC 1
Z9 1
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD APR
PY 2014
VL 52
IS 2
BP 147
EP 159
DI 10.1352/1934-9556-52.2.147
PG 13
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AF1WI
UT WOS:000334504200006
PM 24725113
ER
PT J
AU Shadish, WR
AF Shadish, William R.
TI Analysis and meta-analysis of single-case designs: An introduction
SO JOURNAL OF SCHOOL PSYCHOLOGY
LA English
DT Article
DE Single-case designs; Statistics; Meta-analysis
ID AUTISM SPECTRUM DISORDERS; NATURAL-LANGUAGE PARADIGM;
OF-SCHOOL-PSYCHOLOGY; WRITING DIFFICULTIES; SUBJECT RESEARCH; CHILDREN;
BEHAVIOR; FUTURE; STUDENTS; DISABILITIES
AB The last 10 years have seen great progress in the analysis and meta-analysis of single-case designs (SCDs). This special issue includes five articles that provide an overview of current work on that topic, including standardized mean difference statistics, multilevel models, Bayesian statistics, and generalized additive models. Each article analyzes a common example across articles and presents syntax or macros for how to do them. These articles are followed by commentaries from single-case design researchers and journal editors. This introduction briefly describes each article and then discusses several issues that must be addressed before we can know what analyses will eventually be best to use in SCD research. These issues include modeling trend, modeling error covariances, computing standardized effect size estimates, assessing statistical power, incorporating more accurate models of outcome distributions, exploring whether Bayesian statistics can improve estimation given the small samples common in SCDs, and the need for annotated syntax and graphical user interfaces that make complex statistics accessible to SCD researchers. The article then discusses reasons why SCD researchers are likely to incorporate statistical analyses into their research more often in the future, including changing expectations and contingencies regarding SCD research from outside SCD communities, changes and diversity within SCD communities, corrections of erroneous beliefs about the relationship between SCD research and statistics, and demonstrations of how statistics can help SCD researchers better meet their goals. (C) 2013 Society for the Study of School Psychology. Published by Elsevier Ltd. All rights reserved.
C1 Univ Calif Merced, Sch Social Sci Humanities & Arts, Merced, CA 95343 USA.
RP Shadish, WR (reprint author), Univ Calif Merced, Sch Social Sci Humanities & Arts, 5200 North Lake Rd, Merced, CA 95343 USA.
EM wshadish@ucmerced.edu
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NR 73
TC 4
Z9 4
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0022-4405
EI 1873-3506
J9 J SCHOOL PSYCHOL
JI J. Sch. Psychol.
PD APR
PY 2014
VL 52
IS 2
BP 109
EP 122
DI 10.1016/j.jsp.2013.11.009
PG 14
WC Psychology, Educational
SC Psychology
GA AF1OO
UT WOS:000334483400001
PM 24606971
ER
PT J
AU Moeyaert, M
Ferron, JM
Beretvas, SN
Van den Noortgate, W
AF Moeyaert, Mariola
Ferron, John M.
Beretvas, S. Natasha
Van den Noortgate, Wim
TI From a single-level analysis to a multilevel analysis of single-case
experimental designs
SO JOURNAL OF SCHOOL PSYCHOLOGY
LA English
DT Article
DE Single-case experimental design; Multilevel analysis
ID HIERARCHICAL LINEAR-MODELS; NATURAL-LANGUAGE PARADIGM; EFFECT SIZES;
INTERVENTION; CHILDREN; AUTISM; AUTOCORRELATION; SIMULATION; INCREASE
AB Multilevel modeling provides one approach to synthesizing single-case experimental design data. In this study, we present the multilevel model (the two-level and the three-level models) for summarizing single-case results over cases, over studies, or both. In addition to the basic multilevel models, we elaborate on several plausible alternative models. We apply the proposed models to real datasets and investigate to what extent the estimated treatment effect is dependent on the modeling specifications and the underlying assumptions. By considering a range of plausible models and assumptions, researchers can determine the degree to which the effect estimates and conclusions are sensitive to the specific assumptions made. If the same conclusions are reached across a range of plausible assumptions, confidence in the conclusions can be enhanced. We advise researchers not to focus on one model but conduct multiple plausible multilevel analyses and investigate whether the results depend on the modeling options. (C) 2013 Society for the Study of School Psychology. Published by Elsevier Ltd. All rights reserved.
C1 [Moeyaert, Mariola] Katholieke Univ Leuven, Fac Psychol & Educ Sci, B-3000 Louvain, Belgium.
[Ferron, John M.] Univ S Florida, Dept Educ Measurement & Res, Tampa, FL 33620 USA.
[Van den Noortgate, Wim] Katholieke Univ Leuven, ITECi Minds Kortrijk, Fac Psychol & Educ Sci, B-3000 Louvain, Belgium.
RP Moeyaert, M (reprint author), Katholieke Univ Leuven, Fac Psychol & Educ Sci, Andreas Vesaliusstr 2,Box 3762, B-3000 Louvain, Belgium.
EM Mariola.Moeyaert@ppw.kuleuven.be
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NR 44
TC 5
Z9 5
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0022-4405
EI 1873-3506
J9 J SCHOOL PSYCHOL
JI J. Sch. Psychol.
PD APR
PY 2014
VL 52
IS 2
BP 191
EP 211
DI 10.1016/j.jsp.2013.11.003
PG 21
WC Psychology, Educational
SC Psychology
GA AF1OO
UT WOS:000334483400005
PM 24606975
ER
PT J
AU Helsmoortel, C
Vulto-van Silfhout, AT
Coe, BP
Vandeweyer, G
Rooms, L
van den Ende, J
Schuurs-Hoeijmakers, JHM
Marcelis, CL
Willemsen, MH
Vissers, LELM
Yntema, HG
Bakshi, M
Wilson, M
Witherspoon, KT
Malmgren, H
Nordgren, A
Anneren, G
Fichera, M
Bosco, P
Romano, C
de Vries, BBA
Kleefstra, T
Kooy, RF
Eichler, EE
Van der Aa, N
AF Helsmoortel, Celine
Vulto-van Silfhout, Anneke T.
Coe, Bradley P.
Vandeweyer, Geert
Rooms, Liesbeth
van den Ende, Jenneke
Schuurs-Hoeijmakers, Janneke H. M.
Marcelis, Carlo L.
Willemsen, Marjolein H.
Vissers, Lisenka E. L. M.
Yntema, Helger G.
Bakshi, Madhura
Wilson, Meredith
Witherspoon, Kali T.
Malmgren, Helena
Nordgren, Ann
Anneren, Goran
Fichera, Marco
Bosco, Paolo
Romano, Corrado
de Vries, Bert B. A.
Kleefstra, Tjitske
Kooy, R. Frank
Eichler, Evan E.
Van der Aa, Nathalie
TI A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
SO NATURE GENETICS
LA English
DT Article
ID DEPENDENT NEUROPROTECTIVE PROTEIN; CHROMATIN-REMODELING COMPLEX;
COFFIN-SIRIS SYNDROME; SPECTRUM DISORDERS; INTELLECTUAL DISABILITY;
NEURAL DEVELOPMENT; PEPTIDE; GENES; HAPLOINSUFFICIENCY; DIFFERENTIATION
AB Despite the high heritability of autism spectrum disorders (ASD), characterized by persistent deficits in social communication and interaction and restricted, repetitive patterns of behavior, interests or activities(1), a genetic diagnosis can be established in only a minority of patients. Known genetic causes include chromosomal aberrations, such as the duplication of the 15q11-13 region, and monogenic causes, as in Rett and fragile- X syndromes. The genetic heterogeneity within ASD is striking, with even the most frequent causes responsible for only 1% of cases at the most. Even with the recent developments in nextgeneration sequencing, for the large majority of cases no molecular diagnosis can be established(2-7). Here, we report ten patients with ASD and other shared clinical characteristics, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcription factor involved in the SWI/ SNF remodeling complex. We estimate this gene to be mutated in at least 0.17% of ASD cases, making it one of the most frequent ASD- associated genes known to date.
C1 [Helsmoortel, Celine; Vandeweyer, Geert; Rooms, Liesbeth; Kooy, R. Frank; Van der Aa, Nathalie] Univ Antwerp, Dept Med Genet, B-2020 Antwerp, Belgium.
[Vulto-van Silfhout, Anneke T.; Schuurs-Hoeijmakers, Janneke H. M.; Marcelis, Carlo L.; Willemsen, Marjolein H.; Vissers, Lisenka E. L. M.; Yntema, Helger G.; de Vries, Bert B. A.; Kleefstra, Tjitske] Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, Nijmegen Ctr Mol Life Sci,Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.
[Coe, Bradley P.; Witherspoon, Kali T.; Eichler, Evan E.] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA USA.
[Coe, Bradley P.; Witherspoon, Kali T.; Eichler, Evan E.] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA.
[Vandeweyer, Geert] Univ Antwerp, Dept Math & Comp Sci, Biomed Informat Res Ctr Antwerpen Biomina, Edegem, Belgium.
[van den Ende, Jenneke; Van der Aa, Nathalie] Univ Antwerp Hosp, Antwerp, Belgium.
[Bakshi, Madhura] Westmead Hosp, Dept Med Genet, Sydney, NSW, Australia.
[Wilson, Meredith] Childrens Hosp, Dept Clin Genet, Westmead, NSW, Australia.
[Malmgren, Helena; Nordgren, Ann] Karolinska Inst, Dept Mol Med & Surg, Clin Genet Unit, Stockholm, Sweden.
[Anneren, Goran] Uppsala Univ, Dept Womens & Childrens Hlth, Uppsala, Sweden.
[Fichera, Marco] IRCCS, Assoc Oasi Maria Santissima, Neurol Unit, Troina, Italy.
[Fichera, Marco] Univ Catania, Catania, Italy.
[Bosco, Paolo] IRCCS, Assoc Oasi Maria Santissima, Lab Cytogenet, Troina, Italy.
[Romano, Corrado] IRCCS, Assoc Oasi Maria Santissima, Unit Pediat & Med Genet, Troina, Italy.
[de Vries, Bert B. A.; Kleefstra, Tjitske] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands.
RP Van der Aa, N (reprint author), Univ Antwerp, Dept Med Genet, B-2020 Antwerp, Belgium.
EM frank.kooy@uantwerpen.be; nathalie.vanderaa@uza.be
RI Romano, Corrado/B-9695-2008; Kleefstra, Tjitske/G-2619-2012; Vissers,
Lisenka/A-2598-2015
OI Romano, Corrado/0000-0003-1049-0683;
FU Belgian National Fund for Scientific Research-Flanders (FWO); University
of Antwerp; Dutch Organization for Health Research and Development
[917-86-319, 40-00812-98-12109, 907-00-365]; EU-funded GENCODYS project
[EU-7th-2010-241995]; Simons Foundation Autism Research Initiative award
[SFARI191889EE]; NIH [MH101221]
FX This work was funded by the Belgian National Fund for Scientific
Research-Flanders (FWO) to G.V. and R.F.K., the Special Research Fund of
the University of Antwerp (Bijzonder Onderzoeksfonds (BOF- IWT)) to
C.H., by grants from the Dutch Organization for Health Research and
Development (917-86-319 and 40-00812-98-12109 to B.B.A. d.V. and
907-00-365 to T.K.), the EU-funded GENCODYS project (EU-7th-2010-241995
to A.T.V.-v.S., B.B.A.d.V. and T.K.), Simons Foundation Autism Research
Initiative award (SFARI191889EE to E.E.E.) and NIH (MH101221 to E.E.E.).
We acknowledge R. Pettinato and M. Elia for the first enrolling of
patients 8 and 9, respectively, and J. Shendure and B. O'Roak for
details regarding ADNP molecular inversion probe design. E.E.E. is an
investigator of the Howard Hughes Medical Institute.
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NR 56
TC 19
Z9 19
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1061-4036
EI 1546-1718
J9 NAT GENET
JI Nature Genet.
PD APR
PY 2014
VL 46
IS 4
BP 380
EP +
DI 10.1038/ng.2899
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA AF1YP
UT WOS:000334510100015
PM 24531329
ER
PT J
AU Ashburner, J
Rodger, S
Ziviani, J
Jones, J
AF Ashburner, Jill
Rodger, Sylvia
Ziviani, Jenny
Jones, Judy
TI Occupational therapy services for people with autism spectrum disorders:
Current state of play, use of evidence and future learning priorities
SO AUSTRALIAN OCCUPATIONAL THERAPY JOURNAL
LA English
DT Article
DE autism; interventions; professional development
ID CHILDREN
AB BackgroundA dramatic increase in the prevalence of autism spectrum disorders and increased funding to support children with autism spectrum disorders have added to the demand for occupational therapy services. This study explored current practices and future learning priorities of Queensland occupational therapists who work in this field.
MethodA survey in relation to occupational therapy services for people with autism spectrum disorders was distributed to all registered Queensland occupational therapists (N=2547). The development of the survey was informed by a series of focus groups comprising occupational therapy clinicians, supervisors and academics. The survey covered demographics, caseload composition, collaboration, context/setting, service-delivery models, information gathering, goal setting, interventions, perceived challenges and confidence, use of evidence, and experience of professional development and support, and future learning priorities.
ResultsOf 818 surveys returned, 235 respondents provided services to clients with autism spectrum disorders, with young children being more likely to receive a service than adolescents or adults. A pervasive focus on sensory processing was apparent in relation to assessment, intervention, and key areas of knowledge. Around half the respondents indicated that they lacked confidence at least some of the time. Autism spectrum disorders-specific experience was a significant predictor of confidence. Many therapists reported challenges in finding useful information in the literature and reliance on conferences or workshops as their main source of evidence. Commonly identified learning priorities included new developments in the field, early intervention, school support, sensory processing and clinical reasoning.
ConclusionThis research highlights the need for comprehensive autism spectrum disorders-specific, face-to-face training focusing on evidence-based and occupation-centred practices.
C1 [Ashburner, Jill; Jones, Judy] Autism Queensland, Res & Dev, Sunnybank, Qld, Australia.
[Rodger, Sylvia; Ziviani, Jenny] Univ Queensland, Sch Hlth & Rehabil Sci, Div Occupat Therapy, Brisbane, Qld, Australia.
[Ziviani, Jenny] Queensland Hlth, Childrens Allied Hlth Res, Brisbane, Qld, Australia.
RP Ashburner, J (reprint author), Autism Queensland, POB 354, Sunnybank, Qld 4109, Australia.
EM jill.ashburner@autismqld.com.au
FU Occupational Therapists Board of Queensland
FX We thank the Occupational Therapists Board of Queensland for their
funding of this project and the occupational therapists for their
contribution of time to participation in the focus groups and/or
completion of the surveys.
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TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0045-0766
EI 1440-1630
J9 AUST OCCUP THER J
JI Aust. Occup. Ther. J.
PD APR
PY 2014
VL 61
IS 2
BP 110
EP 120
DI 10.1111/1440-1630.12083
PG 11
WC Rehabilitation
SC Rehabilitation
GA AD8ZC
UT WOS:000333553200010
PM 24118044
ER
PT J
AU Lyons, M
Simmons, ES
Paul, R
AF Lyons, Megan
Simmons, Elizabeth Schoen
Paul, Rhea
TI Prosodic Development in Middle Childhood and Adolescence in
High-Functioning Autism
SO AUTISM RESEARCH
LA English
DT Article
DE perception; autism; production; prosody; language
ID SPECTRUM DISORDERS; FOLLOW-UP; INTONATION ABILITIES; WILLIAMS-SYNDROME;
ASPERGER-SYNDROME; CHILDREN; LANGUAGE; SPEECH; SPEAKERS; COMMUNICATION
AB The present study aims to investigate the perception and production of several domains of prosodic performance in a cross-sectional sample of preadolescents and adolescents with and without high-functioning autism (HFA). To look at the role of language abilities on prosodic performance, the HFA groups were subdivided based on "high" and "low" language performance on the Clinical Evaluation of Language Fundamentals-Fourth Edition (CELF-4) (Semel, Wiig, & Secord). Social and cognitive abilities were also examined to determine their relationship to prosodic performance. No significant differences were seen in prosody scores in the younger versus older subgroups in typically developing (TD) group with age-appropriate language. There was small but significant improvement in performance with age in the groups with HFA. Comparing performance at each age level across diagnostic groups showed that preteens with HFA and higher language levels perform similarly to their TD peers on all prosodic tasks, whereas those with lower language skills scored significantly worse than both their higher language and TD peers when looking at composite perception and production findings. Teens with HFA showed no deficits on perception tasks; however, those with low language levels had difficulty on several production tasks when compared to the TD group. Regression analyses suggested that, for the preteen group with HFA, language was the strongest predictor of prosodic perception, whereas nonverbal IQ was most highly predictive of prosodic production. For adolescents with HFA, social skills significantly contributed to the prediction of prosodic perception and, along with language abilities, predicted prosodic production. Implications of these findings will be discussed. Autism Res 2014, 7: 181-196.. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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RP Lyons, M (reprint author), Yale Child, Study Ctr, 40 Temple St,Suite 7-D, New Haven, CT 06510 USA.
EM megan.lyons@yale.edu
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NR 53
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2014
VL 7
IS 2
BP 181
EP 196
DI 10.1002/aur.1355
PG 16
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AE9WD
UT WOS:000334361200001
PM 24634421
ER
PT J
AU Ruysschaert, L
Warreyn, P
Wiersema, JR
Oostra, A
Roeyers, H
AF Ruysschaert, Lieselot
Warreyn, Petra
Wiersema, Jan R.
Oostra, Ann
Roeyers, Herbert
TI Exploring the Role of Neural Mirroring in Children with Autism Spectrum
Disorder
SO AUTISM RESEARCH
LA English
DT Article
DE ASD; children; mirror neurons; mu suppression; EEG
ID MOTOR FACILITATION; MU-SUPPRESSION; EEG EVIDENCE; IMITATION; SYSTEM;
INFANTS; OTHERS; ACTIVATION; HYPOTHESIS; EXECUTION
AB Investigating the underlying neural mechanisms of autism spectrum disorder (ASD) has recently been influenced by the discovery of mirror neurons. These neurons, active during both observation and execution of actions, are thought to play a crucial role in imitation and other social-communicative skills that are often impaired in ASD. In the current electroencephalographic study, we investigated mu suppression, indicating neural mirroring in children with ASD between the ages of 24 and 48 months and age-matched typically developing children, during observation of goal-directed actions and non-goal-directed mimicked hand movements, as well as during action execution. Results revealed no significant group differences with significant central mu suppression in the ASD children and control children during both execution and observation of goal-directed actions and during observation of hand movements. Furthermore, no significant correlations between mu suppression on one hand and quality of imitation, age, and social communication questionnaire scores on the other hand were found. These findings challenge the "broken mirror" hypothesis of ASD, suggesting that impaired neural mirroring is not a distinctive feature of ASD. Autism Res 2014, 7: 197- 206. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Ruysschaert, Lieselot; Warreyn, Petra; Wiersema, Jan R.; Roeyers, Herbert] Univ Ghent, Dept Expt Clin & Hlth Psychol, B-9000 Ghent, Belgium.
[Oostra, Ann] Ghent Univ Hosp, Ghent, Belgium.
RP Ruysschaert, L (reprint author), Univ Ghent, Dept Expt Clin & Hlth Psychol, Henri Dunantlaan 2, B-9000 Ghent, Belgium.
EM Lieselot.Ruysschaert@UGent.be
FU Ghent University Research Fund (BOF); Marguerite-Marie Delacroix Fund
FX This research was supported by the Ghent University Research Fund (BOF)
and the Marguerite-Marie Delacroix Fund.
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NR 61
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2014
VL 7
IS 2
BP 197
EP 206
DI 10.1002/aur.1339
PG 10
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AE9WD
UT WOS:000334361200002
PM 24515797
ER
PT J
AU Gulsrud, AC
Hellemann, GS
Freeman, SFN
Kasari, C
AF Gulsrud, Amanda C.
Hellemann, Gerhard S.
Freeman, Stephanny F. N.
Kasari, Connie
TI Two to Ten Years: Developmental Trajectories of Joint Attention in
Children With ASD Who Received Targeted Social Communication
Interventions
SO AUTISM RESEARCH
LA English
DT Article
DE early intervention; longitudinal; joint attention; social communication
ID YOUNG-CHILDREN; FOLLOW-UP; AUTISM; PLAY; DISORDERS; SKILLS; IQ
AB This study follows 40 children who were participants in a randomized controlled early intervention trial (Kasari et al.) from early childhood (2-5 years of age) to elementary school age (8-10 years). To fully utilize the available longitudinal data, the general linear mixed model was the primary analytical approach. The growth trajectories of joint attention skills (pointing, coordinated joint looking, and showing) and expressive language outcomes in these children were estimated based on five time points during the measurement period. The children were grouped by diagnosis at the last follow-up (autism, autism spectrum disorder (ASD), no diagnosis) and by their original treatment group assignment (joint attention, symbolic play, control), and differences between these groups were evaluated. Results showed that joint attention skills of coordinated joint looking and showing increased over time, and pointing to share interest increased over the first year measured and decreased thereafter. These trajectories were influenced by both original treatment assignment and diagnostic status at follow-up. In addition, a cross-lagged panel analysis revealed a causal relationship between early pointing and later language development. This study highlights the longitudinal and developmental importance of measures of early core deficits in autism, and suggests that both treatment and ASD symptomatology may influence growth in these skills over time. Autism Res 2014, 7: 207-215. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Gulsrud, Amanda C.; Freeman, Stephanny F. N.; Kasari, Connie] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90024 USA.
[Hellemann, Gerhard S.] Univ Calif Los Angeles, Dept Biostat, Los Angeles, CA 90024 USA.
[Kasari, Connie] Univ Calif Los Angeles, Grad Sch Educ & Informat Studies, Los Angeles, CA 90024 USA.
RP Gulsrud, AC (reprint author), Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, 760 Westwood Plaza,RM 68-237C, Los Angeles, CA 90024 USA.
EM agulsrud@mednet.ucla.edu
FU NICHD [1-P01-HD35470]; NIH [5-U19-HD035470]
FX Grant support: NICHD 1-P01-HD35470 and NIH 5-U19-HD035470
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NR 25
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2014
VL 7
IS 2
BP 207
EP 215
DI 10.1002/aur.1360
PG 9
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AE9WD
UT WOS:000334361200003
PM 24550145
ER
PT J
AU Hollocks, MJ
Jones, CRG
Pickles, A
Baird, G
Happe, F
Charman, T
Simonoff, E
AF Hollocks, Matthew J.
Jones, Catherine R. G.
Pickles, Andrew
Baird, Gillian
Happe, Francesca
Charman, Tony
Simonoff, Emily
TI The Association Between Social Cognition and Executive Functioning and
Symptoms of Anxiety and Depression in Adolescents With Autism Spectrum
Disorders
SO AUTISM RESEARCH
LA English
DT Article
DE social cognition; anxiety; ASD; executive functions; neuropsychology;
depression
ID PERVASIVE DEVELOPMENTAL DISORDERS; ATTENTIONAL CONTROL-THEORY;
PSYCHIATRIC-DISORDERS; GENERALIZED ANXIETY; ASPERGERS SYNDROME; MAJOR
DEPRESSION; ANIMATED SHAPES; STATE ANXIETY; MENTAL STATES; SPECIAL NEEDS
AB While high levels of anxiety and depression are now recognized as major co-occurring problems in children and young people with an autism spectrum disorder (ASD), research examining possible associations with individual differences in neurocognitive functioning has been limited. This study included 90 adolescents with an ASD aged 14-16 years with a full-scale IQ > 50. Using structural equation modeling, we examined the independent relationships between multiple measures of executive functioning and social cognition on severity of anxiety or depressive symptoms. Results indicated a significant association between poorer executive functioning and higher levels of anxiety, but not depression. In contrast, social cognition ability was not associated with either anxiety or depression. This study is the first to report significant associations between executive functions and anxiety in ASD. This may suggest that poor executive functioning is one factor associated with the high prevalence of anxiety disorder in children and adolescents with ASD. Autism Res 2014, 7: 216-228. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Hollocks, Matthew J.; Simonoff, Emily] Kings Coll London, Dept Child & Adolescent Psychiat, Inst Psychiat, London SE5 8AF, England.
[Jones, Catherine R. G.] Cardiff Univ, Sch Psychol, Cardiff CF10 3AX, S Glam, Wales.
[Pickles, Andrew] Kings Coll London, Dept Biostat, Inst Psychiat, London SE5 8AF, England.
[Pickles, Andrew] Kings Coll London, Biomed Res Ctr Mental Hlth, Inst Psychiat, London SE5 8AF, England.
[Baird, Gillian] Guys & St Thomas NHS Fdn Trust, London, England.
[Happe, Francesca] Kings Coll London, MRC SGDP Res Ctr, Inst Psychiat, London SE5 8AF, England.
[Charman, Tony] Kings Coll London, Dept Psychol, Inst Psychiat, London SE5 8AF, England.
[Simonoff, Emily] Kings Coll London, NIHR Biomed Res Ctr Mental Hlth, Inst Psychiat, London SE5 8AF, England.
RP Hollocks, MJ (reprint author), Kings Coll London, Dept Child & Adolescent Psychiat, Inst Psychiat, PO85,De Crespigny Pk,Denmark Hill, London SE5 8AF, England.
EM matthew.hollocks@kcl.ac.uk
RI Charman, Tony/A-2085-2014; Jones, Catherine/E-4956-2013; Pickles,
Andrew/A-9625-2011
OI Charman, Tony/0000-0003-1993-6549; Pickles, Andrew/0000-0003-1283-0346
FU Medical Research Council [G0400065]; Novartis
FX The study was funded by the Medical Research Council (G0400065). We are
grateful to the adolescents and families who took part in the study. We
would like to thank Paramala Santosh for permission to reprint the
relevant items from the PONS. A.P. receives royalties from the Social
Communication Questionnaire and F. H. received a one-off consultancy
payment from Novartis in March 2011. There are no other conflicts of
interest, financial or otherwise.
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NR 76
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2014
VL 7
IS 2
BP 216
EP 228
DI 10.1002/aur.1361
PG 13
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AE9WD
UT WOS:000334361200004
PM 24737743
ER
PT J
AU Iarocci, G
Armstrong, K
AF Iarocci, Grace
Armstrong, Kimberly
TI Age-Related Changes in Conjunctive Visual Search in Children with and
without ASD
SO AUTISM RESEARCH
LA English
DT Article
DE attention; perception; development; visual search
ID AUTISM; SUPERIOR; ATTENTION; ADULTS; TARGET; TASKS
AB Visual-spatial strengths observed among people with autism spectrum disorder (ASD) may be associated with increased efficiency of selective attention mechanisms such as visual search. In a series of studies, researchers examined the visual search of targets that share features with distractors in a visual array and concluded that people with ASD showed enhanced performance on visual search tasks. However, methodological limitations, the small sample sizes, and the lack of developmental analysis have tempered the interpretations of these results. In this study, we specifically addressed age-related changes in visual search. We examined conjunctive visual search in groups of children with (n = 34) and without ASD (n = 35) at 7-9 years of age when visual search performance is beginning to improve, and later, at 10-12 years, when performance has improved. The results were consistent with previous developmental findings; 10- to 12-year-old children were significantly faster visual searchers than their 7- to 9-year-old counterparts. However, we found no evidence of enhanced search performance among the children with ASD at either the younger or older ages. More research is needed to understand the development of visual search in both children with and without ASD. Autism Res 2014, 7: 229-236. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Iarocci, Grace; Armstrong, Kimberly] Simon Fraser Univ, Dept Psychol, Burnaby, BC V5A 1S6, Canada.
RP Iarocci, G (reprint author), Simon Fraser Univ, Dept Psychol, 8888 Univ Dr, Burnaby, BC V5A 1S6, Canada.
EM giarocci@sfu.ca
FU Social Sciences and Humanities Research Council of Canada (SSHRC)
[767-2011-2317]; Michael Smith Foundation for Health Research (MSFHR);
Autism Research Training (ART) program; Canadian Institutes of Health
Research (CIHR) [STN 63728]
FX This research was supported by: Grant Sponsor: Social Sciences and
Humanities Research Council of Canada (SSHRC); Grant Number:
767-2011-2317 to G. I.; Grant Sponsor: Michael Smith Foundation for
Health Research (MSFHR); Scholar Award to G. I. Grant Sponsor: Autism
Research Training (ART) program funded by the Canadian Institutes of
Health Research (CIHR); Grant Number: STN 63728 to K.A.
CR Auyeung B, 2008, J AUTISM DEV DISORD, V38, P1230, DOI 10.1007/s10803-007-0504-z
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NR 25
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2014
VL 7
IS 2
BP 229
EP 236
DI 10.1002/aur.1359
PG 8
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AE9WD
UT WOS:000334361200005
PM 24574200
ER
PT J
AU Brodeur, DA
Green, CG
Flores, H
Burack, JA
AF Brodeur, Darlene A.
Green, Cathryn Gordon
Flores, Heidi
Burack, Jacob A.
TI Time Estimation Among Low-Functioning Individuals With Autism Spectrum
Disorders: Evidence of Poor Sensitivity to Variability of Short
Durations
SO AUTISM RESEARCH
LA English
DT Article
DE perception; autism spectrum disorder; time; low-functioning
ID PERCEPTION; CHILDREN; ADULTS; MEMORY; AGE
AB Time estimation of short durations (under 1 sec) was examined in low-functioning individuals with autism spectrum disorder (ASD) and typically developing (TD) children matched on mental age. Temporal bisection and generalization tasks were used to examine basic perceptual timing mechanisms. For both tasks, the participants with ASD demonstrated less sensitivity to variability in short durations than the TD children, adding to a growing body of literature suggesting deficits in timing exist for longer durations. The results highlight the need to examine multiple levels of processing of time-related information from basic perceptual mechanisms to higher level cognitive mechanisms. Autism Res 2014, 7: 237-244. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Brodeur, Darlene A.] Acadia Univ, Dept Psychol, Wolfville, NS B4P 2R6, Canada.
[Green, Cathryn Gordon; Flores, Heidi; Burack, Jacob A.] McGill Univ, Hop Riviere Des Prairies, Montreal, PQ, Canada.
RP Brodeur, DA (reprint author), Acadia Univ, Dept Psychol, 18 Univ Ave, Wolfville, NS B4P 2R6, Canada.
EM darlene.brodeur@acadiau.ca
FU Social Sciences and Humanities Research Council Canada Standard Research
Grant [410-2009-1144]
FX Grant sponsor: Social Sciences and Humanities Research Council Canada
Standard Research Grant to Jake Burack; Grant number: #410-2009-1144.
CR Allen G, 2003, AM J PSYCHIAT, V160, P262, DOI 10.1176/appi.ajp.160.2.262
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NR 29
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2014
VL 7
IS 2
BP 237
EP 244
DI 10.1002/aur.1364
PG 8
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AE9WD
UT WOS:000334361200006
PM 24574256
ER
PT J
AU Yuan, H
Dougherty, JD
AF Yuan, Han
Dougherty, Joseph D.
TI Investigation of Maternal Genotype Effects in Autism by Genome-Wide
Association
SO AUTISM RESEARCH
LA English
DT Article
DE autism; GWAS; SSC; maternal genotype effect; AGRE
ID FETAL VALPROATE SYNDROME; SPECTRUM DISORDERS; CONGENITAL
CYTOMEGALOVIRUS; RISK-FACTORS; TWIN PAIRS; ALCOHOL; MOTHERS;
IDENTIFICATION; METAANALYSIS; MUTATIONS
AB Like most psychiatric disorders, autism spectrum disorders have both a genetic and an environmental component. While previous studies have clearly demonstrated the contribution of in utero (prenatal) environment on autism risk, most of them focused on transient environmental factors. Based on a recent sibling study, we hypothesized that environmental factors could also come from the maternal genome, which would result in persistent effects across siblings.
In this study, the possibility of maternal genotype effects was examined by looking for common variants (single-nucleotide polymorphisms or SNPs) in the maternal genome associated with increased risk of autism in children. A case/control genome-wide association study was performed using mothers of probands as cases, and either fathers of probands or normal females as controls. Autism Genetic Resource Exchange and Illumina Genotype Control Database were used as our discovery cohort (n = 1616). The same analysis was then replicated on Simon Simplex Collection and Study of Addiction: Genetics and Environment datasets (n = 2732).
We did not identify any SNP that reached genome-wide significance (P < 10(-8)), and thus a common variant of large effect is unlikely. However, there was evidence for the possibility of a large number of alleles of effective size marginally below our power to detect. Autism Res 2014, 7: 245-253. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Yuan, Han; Dougherty, Joseph D.] Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA.
[Dougherty, Joseph D.] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA.
RP Dougherty, JD (reprint author), Washington Univ, Sch Med, Dept Genet, 4566 Scott Ave,Campus Box 8232, St Louis, MO 63110 USA.
EM jdougherty@genetics.wustl.edu
FU Mallinkrodt Foundation; National Institutes of Health (NIH)
[4R00NS067239 -03, 9R01MH100027-06]; National Institute of Mental Health
[1U24MH081810]; NIH Genes, Environment and Health Initiative (GEI) [U01
HG004422]; Gene Environment Association Studies (GENEVA) under GEI;
Collaborative Study on the Genetics of Alcoholism (COGA) [U10 AA008401];
Collaborative Genetic Study of Nicotine Dependence (COGEND) [P01
CA089392]; Family Study of Cocaine Dependence (FSCD) [R01 DA013423]; NIH
GEI [U01HG004438]; National Institute on Alcohol Abuse and Alcoholism;
National Institute on Drug Abuse; NIH [HHSN268200782096C]
FX We gratefully thank John Constantino, Jennifer K. Lowe, Don Conrad,
Laura Bierut, Nancy Saccone, and members of Dougherty lab for their
suggestions and support. Funding was provided by the Mallinkrodt
Foundation (J. D. D.) and the National Institutes of Health (NIH):
4R00NS067239 -03 (J. D. D.) and 9R01MH100027-06. The authors declare no
conflicts of interest.We are also grateful for the resources provided by
the Autism Genetic Resource Exchange (AGRE) Consortium* and the
participating AGRE families. The Autism Genetic Resource Exchange is a
program of Autism Speaks and is supported, in part, by grant
1U24MH081810 from the National Institute of Mental Health to Clara M.
Lajonchere (PI). We are likewise grateful to all of the families at the
participating Simons Simplex Collection (SSC) sites, as well as the
principal investigators (A. Beaudet, R. Bernier, J. Constantino, E.
Cook, E. Fombonne, D. Geschwind, R. Goin-Kochel, E. Hanson, D. Grice, A.
Klin, D. Ledbetter, C. Lord, C. Martin, D. Martin, R. Maxim, J. Miles,
O. Ousley, K. Pelphrey, B. Peterson, J. Piggot, C. Saulnier, M. State,
W. Stone, J. Sutcliffe, C. Walsh, Z. Warren, and E. Wijsman). Funding
support for the Study of Addiction: Genetics and Environment (SAGE) was
provided through the NIH Genes, Environment and Health Initiative (GEI)
(U01 HG004422). SAGE is one of the genome-wide association studies
funded as part of the Gene Environment Association Studies (GENEVA)
under GEI. Assistance with phenotype harmonization and genotype
cleaning, as well as with general study coordination, was provided by
the GENEVA Coordinating Center (U01 HG004446). Assistance with data
cleaning was provided by the National Center for Biotechnology
Information. Support for collection of datasets and samples was provided
by the Collaborative Study on the Genetics of Alcoholism (COGA; U10
AA008401), the Collaborative Genetic Study of Nicotine Dependence
(COGEND; P01 CA089392), and the Family Study of Cocaine Dependence
(FSCD; R01 DA013423). Funding support for genotyping, which was
performed at the Johns Hopkins University Center for Inherited Disease
Research, was provided by the NIH GEI (U01HG004438), the National
Institute on Alcohol Abuse and Alcoholism, the National Institute on
Drug Abuse, and the NIH contract "High throughput genotyping for
studying the genetic contributions to human disease"
(HHSN268200782096C).
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NR 52
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2014
VL 7
IS 2
BP 245
EP 253
DI 10.1002/aur.1363
PG 9
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AE9WD
UT WOS:000334361200007
PM 24574247
ER
PT J
AU Ceroni, F
Sagar, A
Simpson, NH
Gawthrope, AJT
Newbury, DF
Pinto, D
Francis, SM
Tessman, DC
Cook, EH
Monaco, AP
Maestrini, E
Pagnamenta, AT
Jacob, S
AF Ceroni, Fabiola
Sagar, Angela
Simpson, Nuala H.
Gawthrope, Alex J. T.
Newbury, Dianne F.
Pinto, Dalila
Francis, Sunday M.
Tessman, Dorothy C.
Cook, Edwin H.
Monaco, Anthony P.
Maestrini, Elena
Pagnamenta, Alistair T.
Jacob, Suma
TI A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a
Patient With Autism and Asthma
SO AUTISM RESEARCH
LA English
DT Article
DE CNV; oxytocin; fusion transcript; autism; CD38
ID RECEPTOR GENE OXTR; PERVASIVE DEVELOPMENTAL DISORDERS; AIRWAY
SMOOTH-MUSCLE; SPECTRUM DISORDER; OXYTOCIN SECRETION; GENOMIC DISORDERS;
BRAIN OXYTOCIN; ASSOCIATION; CHILDREN; BEHAVIOR
AB CD38 encodes a ligand in the oxytocin signaling pathway. Some single nucleotide polymorphisms in this gene have been associated with low serum oxytocin levels in autism spectrum disorder (ASD) patients. Oxytocin disruption has been hypothesized to account for features of ASD, including impaired communication and social behavior, based on animal studies. Recent human studies have shown administration of oxytocin improving emotion recognition, promoting social behavior, and improving auditory processing of social stimuli in ASD patients. In addition to its role in oxytocin signaling, CD38 is involved in the regulation of calcium concentration in airway smooth muscle with impairment of CD38 being implicated in airway diseases like asthma. While a number of studies have implicated rare chromosomal deletions and duplications in helping determine genetic risk for autism, there are to our knowledge no reports describing rearrangements involving CD38 or deletions in patients with ASD. Here, we present two sisters diagnosed with autism and with features of regression-previously acquired speech lost in the second year of life. The younger sister, who also had asthma, inherited a maternal deletion of 4p15.32 that results in a BST1-CD38 fusion transcript. Their mother's deletion was mosaic and she was not affected. Although further work is required to assess functional consequences of the fusion transcript, we hypothesize that the proband's deletion may have served as a risk factor for autism that, when combined with other susceptibility variants, resulted in a more severe presentation than her sister. Autism Res 2014, 7: 254-263. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Ceroni, Fabiola; Maestrini, Elena] Univ Bologna, Dept Pharm & Biotechnol, Bologna, Italy.
[Simpson, Nuala H.; Gawthrope, Alex J. T.; Newbury, Dianne F.; Monaco, Anthony P.; Pagnamenta, Alistair T.] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.
[Sagar, Angela; Tessman, Dorothy C.; Cook, Edwin H.] Univ Illinois, Dept Psychiat, Chicago, IL 60612 USA.
[Pinto, Dalila] Icahn Sch Med, Dept Psychiat, New York, NY USA.
[Monaco, Anthony P.] Tufts Univ, Dept Neurosci, Medford, MA 02155 USA.
[Francis, Sunday M.; Jacob, Suma] Univ Minnesota, Dept Psychiat, Minneapolis, MN 55455 USA.
RP Jacob, S (reprint author), Univ Minnesota, Wallin Med Biosci Bldg,2101 6th St SE, Minneapolis, MN 55455 USA.
EM sjacob@umn.edu
RI Monaco, Anthony/A-4495-2010; Jacob, Suma/J-7941-2013
OI Monaco, Anthony/0000-0001-7480-3197; Jacob, Suma/0000-0001-7434-7398
FU NIH Autism Center of Excellence [P50 HD055751, K23MH082121]; MRC
[G1000569/1]; Wellcome Trust [090532/Z/09/Z]; NIHR Biomedical Research
Centre Oxford; Department of Health's NIHR Biomedical Research Centres
funding scheme; [5T32MH067631-07]
FX We thank the patients and their family for their cooperation,
assistance, and support in this project. This work was supported in part
by 5T32MH067631-07 Training in the Neuroscience of Mental Health (A.
S.), NIH Autism Center of Excellence P50 HD055751 (E. H. C.),
K23MH082121 (S.J.), the MRC [G1000569/1] (D.N.), the Wellcome Trust
(090532/Z/09/Z), and the NIHR Biomedical Research Centre Oxford, with
funding from the Department of Health's NIHR Biomedical Research Centres
funding scheme. The views expressed in this publication are those of the
authors and not necessarily those of the Department of Health. Dianne
Newbury is an MRC Career Development Fellow and a Junior Research Fellow
at St John's College. We would like to acknowledge Zoe Holloway for
technical assistance with the preliminary Western analysis, and Steve
Guter for assistance with the clinical data. The authors have no
conflicts of interest to disclose.
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NR 43
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2014
VL 7
IS 2
BP 254
EP 263
DI 10.1002/aur.1365
PG 10
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AE9WD
UT WOS:000334361200008
PM 24634087
ER
PT J
AU Jaramillo, TC
Liu, SN
Pettersen, A
Birnbaum, SG
Powell, CM
AF Jaramillo, Thomas C.
Liu, Shunan
Pettersen, Ami
Birnbaum, Shari G.
Powell, Craig M.
TI Autism-Related Neuroligin-3 Mutation Alters Social Behavior and Spatial
Learning
SO AUTISM RESEARCH
LA English
DT Article
DE animal models; neuroligin; intellectual disability; autism; behavioral
analysis of animal models
ID SYNAPTIC-TRANSMISSION; MICE; DISORDER; GENES
AB Multiple candidate genes have been identified for autism spectrum disorders. While some of these genes reach genome-wide significance, others, such as the R451C point mutation in the synaptic cell adhesion molecule neuroligin-3, appear to be rare. Interestingly, two brothers with the same R451C point mutation in neuroligin-3 present clinically on seemingly disparate sides of the autism spectrum. These clinical findings suggest genetic background may play a role in modifying the penetrance of a particular autism-associated mutation. Animal models may contribute additional support for such mutations as functionally relevant and can provide mechanistic insights. Previously, in collaboration with the Sudhof laboratory, we reported that mice with an R451C substitution in neuroligin-3 displayed social deficits and enhanced spatial learning. While some of these behavioral abnormalities have since been replicated independently in the Sudhof laboratory, observations from the Crawley laboratory failed to replicate these findings in a similar neuroligin-3 mutant mouse model and suggested that genetic background may contribute to variation in observations across laboratories. Therefore, we sought to replicate our findings in the neuroligin-3 R451C point mutant knock-in mouse model (NL3R451C) in a different genetic background. We backcrossed our NL3R451C mouse line onto a 129S2/SvPasCrl genetic background and repeated a subset of our previous behavioral testing. NL3R451C mice on a 129S2/SvPasCrl displayed social deficits, enhanced spatial learning, and increased locomotor activity. These data extend our previous findings that NL3R451C mice exhibit autism-relevant behavioral abnormalities and further suggest that different genetic backgrounds can modify this behavioral phenotype through epistatic genetic interactions. Autism Res 2014, 7: 264-272. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Jaramillo, Thomas C.; Liu, Shunan; Powell, Craig M.] Univ Texas SW Med Ctr Dallas, Dept Neurol & Neurotherapeut, Dallas, TX 75390 USA.
[Pettersen, Ami; Birnbaum, Shari G.; Powell, Craig M.] Univ Texas SW Med Ctr Dallas, Dept Psychiat, Dallas, TX 75390 USA.
[Powell, Craig M.] Univ Texas SW Med Ctr Dallas, Grad Program Neurosci, Dallas, TX 75390 USA.
RP Powell, CM (reprint author), Univ Texas SW Med Ctr Dallas, 5323 Harry Hines Blvd, Dallas, TX 75390 USA.
EM craig.powell@utsouthwestern.edu
FU NIMH [MH081164]; Autism Speaks; The Hartwell Foundation
FX This work was supported by the NIMH MH081164 (CMP), Autism Speaks (CMP),
and The Hartwell Foundation (CMP). TCJ and CMP conceived and designed
the experiments; TCJ, SL, and AP carried them out with input from CMP
and SB; TCJ performed statistical analysis; and TCJ and CMP wrote the
paper with input from all authors. We thank Dr. Thomas C. Sudhof for the
gift of NL3 mutant mice. The authors declare no competing interests.
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NR 18
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2014
VL 7
IS 2
BP 264
EP 272
DI 10.1002/aur.1362
PG 9
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AE9WD
UT WOS:000334361200009
PM 24619977
ER
PT J
AU Lucchina, L
Depino, AM
AF Lucchina, Luciana
Mara Depino, Amaicha
TI Altered Peripheral and Central Inflammatory Responses in a Mouse Model
of Autism
SO AUTISM RESEARCH
LA English
DT Article
DE microglia; astroglia; behavior; cytokines;
hypothalamus-pituitary-adrenal axis; valproic acid
ID SPECTRUM DISORDERS; VALPROIC ACID; MICROGLIAL ACTIVATION; ANIMAL-MODEL;
MICE; CHILDREN; BEHAVIOR; DEPRESSION; EXPOSURE; SYSTEM
AB Increasing clinical and experimental evidence links immune and inflammatory alterations with the pathogenesis of autism spectrum disorders (ASD). Autistic individuals show signs of neuroinflammation, altered inflammatory responses, and immune abnormalities throughout life. Mice injected subcutaneously with 600 mg/kg valproic acid (VPA600) at gestational day 12.5 show reduced social interaction in adulthood (at 8 weeks of age), and they have been proposed as a mouse model of autism. Here, we show that these adult animals present signs of chronic glial activation in the hippocampus and the cerebellum. Moreover, when they are challenged with a peripheral inflammatory stimulus (intraperitoneal lipopolysaccharides, LPS), VPA600 animals show an exacerbated inflammatory response. Two hours after LPS injection, VPA600 animals secrete more corticosterone to the blood than control mice, and show an increase in the levels of expression of proinflammatory cytokines in the spleen. After LPS challenge, VPA600 mice also show signs of increased neuroinflammation compared with control mice: they have more microglial cells in the hippocampus, and they show higher levels of proinflammatory cytokines in the cerebellum. Our results provide evidence of basal neuroinflammation and an altered inflammatory response in the VPA model of autism. We propose that this model can be used to evaluate the contribution of inflammatory reactivity to autism-related behaviors. These studies will contribute to elucidate the role of the inflammatory alterations observed in ASD individuals. Autism Res 2013, 7: 273-289. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Mara Depino, Amaicha] CONICET UBA, Inst Physiol Mol Biol & Neurosci, Buenos Aires, DF, Argentina.
Univ Buenos Aires, FCEyN, Dept Physiol Mol & Cellular Biol, Buenos Aires, DF, Argentina.
RP Depino, AM (reprint author), CONICET UBA, Inst Physiol Mol Biol & Neurosci, Int Guiraldes S-N,Ciudad Univ,Pabellon 2,2Do Piso, Buenos Aires, DF, Argentina.
EM adepino@conicet.gov.ar
FU CONICET [PIP2010-2012]; University of Buenos Aires [UBACyT
GEF2010-2012]; ANPCyT [PICT2010-1334]
FX This work was supported by a CONICET Grant PIP2010-2012, a University of
Buenos Aires Grant UBACyT GEF2010-2012, and an ANPCyT Grant
PICT2010-1334. A. M. D. is a member of the Research Career of the
National Council of Scientific and Technological Research (CONICET),
Argentina. L. L. is fellow of the CONICET. We would like to thank Dr.
Fernando Pitossi for his support at the beginning of this project and
the access to the StereoInvestigation equipment, and Dr. Lucia Chemes
for critical reading of the manuscript.
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NR 52
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD APR
PY 2014
VL 7
IS 2
BP 273
EP 289
DI 10.1002/aur.1338
PG 17
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AE9WD
UT WOS:000334361200010
PM 24124122
ER
PT J
AU Schneider, E
El Hajj, N
Richter, S
Roche-Santiago, J
Nanda, I
Schempp, W
Riederer, P
Navarro, B
Bontrop, RE
Kondova, I
Scholz, CJ
Haaf, T
AF Schneider, Eberhard
El Hajj, Nady
Richter, Steven
Roche-Santiago, Justin
Nanda, Indrajit
Schempp, Werner
Riederer, Peter
Navarro, Bianca
Bontrop, Ronald E.
Kondova, Ivanela
Scholz, Claus Juergen
Haaf, Thomas
TI Widespread differences in cortex DNA methylation of the "language gene"
CNTNAP2 between humans and chimpanzees
SO EPIGENETICS
LA English
DT Article
DE CNTNAP2; human-specific communication; human brain evolution; DNA
methylation; language; human-chimpanzee comparison
ID AUTISM SPECTRUM DISORDER; EXPRESSION ANALYSES; PRIMATE CORTICES; BRAIN;
GENOME; EVOLUTION; SPEECH; FOXP2; REVEAL;
CONTACTIN-ASSOCIATED-PROTEIN-LIKE-2
AB CNTNAP2, one of the largest genes in the human genome, has been linked to human-specific language abilities and neurodevelopmental disorders. Our hypothesis is that epigenetic rather than genetic changes have accelerated the evolution of the human brain. To compare the cortex DNA methylation patterns of human and chimpanzee CNTNAP2 at ultra-high resolution, we combined methylated DNA immunoprecipitation (MeDIP) with NimbleGen tiling arrays for the orthologous gene and flanking sequences. Approximately 1.59 Mb of the 2.51 Mb target region could be aligned and analyzed with a customized algorithm in both species. More than one fifth (0.34 Mb) of the analyzed sequence throughout the entire gene displayed significant methylation differences between six human and five chimpanzee cortices. One of the most striking interspecies differences with 28% methylation in human and 59% in chimpanzee cortex (by bisulfite pyrosequencing) lies in a region 300 bp upstream of human SNP rs7794745 which has been associated with autism and parent-of-origin effects. Quantitative real-time RT PCR revealed that the protein-coding splice variant CNTNAP2-201 is 1.6-fold upregulated in human cortex, compared with the chimpanzee. Transcripts CNTNAP2-001, -002, and -003 did not show skewed allelic expression, which argues against CNTNAP2 imprinting, at least in adult human brain. Collectively, our results suggest widespread cortex DNA methylation changes in CNTNAP2 since the human-chimpanzee split, supporting a role for CNTNAP2 fine-regulation in human-specific language and communication traits.
C1 [Schneider, Eberhard; El Hajj, Nady; Richter, Steven; Roche-Santiago, Justin; Nanda, Indrajit; Haaf, Thomas] Univ Wurzburg, Inst Human Genet, Wurzburg, Germany.
[Schempp, Werner] Univ Freiburg, Inst Human Genet, D-79106 Freiburg, Germany.
[Riederer, Peter] Univ Hosp, Dept Psychiat, Clin Neurochem Lab, Wurzburg, Germany.
[Navarro, Bianca] Univ Med Ctr, Inst Legal Med, Mainz, Germany.
[Bontrop, Ronald E.; Kondova, Ivanela] Biomed Primate Res Ctr, Rijswijk, Netherlands.
[Scholz, Claus Juergen] Univ Wurzburg, Lab Microarray Applicat, IZKF, D-97070 Wurzburg, Germany.
RP Haaf, T (reprint author), Univ Wurzburg, Inst Human Genet, Wurzburg, Germany.
EM thomas.haaf@uni-wuerzburg.de
RI Bontrop, Ronald/J-3628-2012
OI Bontrop, Ronald/0000-0003-0874-6467
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NR 78
TC 1
Z9 1
PU LANDES BIOSCIENCE
PI AUSTIN
PA 1806 RIO GRANDE ST, AUSTIN, TX 78702 USA
SN 1559-2294
EI 1559-2308
J9 EPIGENETICS-US
JI Epigenetics
PD APR 1
PY 2014
VL 9
IS 4
BP 533
EP 545
DI 10.4161/epi.27689
PG 13
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AE9DP
UT WOS:000334305100007
PM 24434791
ER
PT J
AU Robel, L
Rousselot-Pailley, B
Fortin, C
Levy-Rueff, M
Golse, B
Falissard, B
AF Robel, Laurence
Rousselot-Pailley, B.
Fortin, C.
Levy-Rueff, M.
Golse, B.
Falissard, B.
TI Subthreshold traits of the broad autistic spectrum are distributed
across different subgroups in parents, but not siblings, of probands
with autism
SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
LA English
DT Article
DE Autism spectrum disorders; Parents and siblings; Broader autism
phenotype
ID PERVASIVE DEVELOPMENTAL DISORDERS; FAQ SELF-REPORT; SOCIAL
RESPONSIVENESS; FAMILIAL AGGREGATION; DIAGNOSTIC INTERVIEW; QUOTIENT AQ;
CHILDREN; PHENOTYPE; VALIDATION; MULTIPLEX
AB Autism is a categorical developmental disorder characterized by impairment in socialization, communication, and by restricted and circumscribed interests. Several authors have described the presence of subthreshold autistic traits in the general population, pervasive developmental disorders representing the extreme end of their distribution. In this study, we explored the presence of autistic traits in siblings and parents of a proband with autism, and in siblings and parents of a normally developing child, using the previously validated self-report French Autism Quotient, an adaptation of the AQ developed by S. Baron-Cohen. Scores were distributed between two main factors, F1 corresponding to socialization and communication, F2 to imagination and rigidity. Here, we show that both parents and siblings of a child with autism have more symptomatic scores in the domains of communication and socialization. In addition, we show that in these families the parents, but not the siblings, are distributed across different subcategories, according to their scores for the F1 and F2 domains. We hypothesize that these different subgroups may correspond to different underlying genetic mechanisms.
C1 [Robel, Laurence; Rousselot-Pailley, B.; Fortin, C.; Levy-Rueff, M.; Golse, B.] Necker Enfant Malades Hosp, APHP, Dept Child & Adolescent Psychiat, F-75015 Paris, France.
[Robel, Laurence; Golse, B.; Falissard, B.] INSERM 669 PSIGIAMP, F-75013 Paris, France.
[Golse, B.] Paris Descartes Univ, Paris, France.
RP Robel, L (reprint author), Necker Enfant Malades Hosp, APHP, Dept Child & Adolescent Psychiat, 149-162 Rue Sevres, F-75015 Paris, France.
EM laurence.robel@free.fr
FU Fondation de France
FX We thank the Fondation de France for its support, S. Baron-Cohen for his
permission to adapt the AQ, Charles Rousselot-Pailley for his valuable
help, children and families who agreed to participate in this research.
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NR 33
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1018-8827
EI 1435-165X
J9 EUR CHILD ADOLES PSY
JI Eur. Child Adolesc. Psych.
PD APR
PY 2014
VL 23
IS 4
BP 225
EP 233
DI 10.1007/s00787-013-0451-5
PG 9
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AE7KE
UT WOS:000334175700006
ER
PT J
AU Raz, M
AF Raz, Mical
TI Deprived of touch How maternal and sensory deprivation theory converged
in shaping early debates over autism
SO HISTORY OF THE HUMAN SCIENCES
LA English
DT Article
DE autism; sensory deprivation; history of psychiatry; maternal
deprivation; history of ideas
ID EARLY INFANTILE-AUTISM; CHILDHOOD SCHIZOPHRENIA; ISOLATION THERAPY;
CHILDREN; PREFERENCE; CONTACT; PARENTS; WORK
AB In 1943, a distinguished child psychiatrist at Johns Hopkins University, Leo Kanner, published what would become a landmark article: a description of 11 children who suffered from a distinct disorder he called 'infantile autism'. While initially quite obscure, in the early 1950s Kanner's report garnered much attention, as clinicians and researchers interpreted these case studies as exemplifying the ill-effects of maternal deprivation, a new theory that rapidly gained currency in the United States. Sensory deprivation experiments, performed in the mid-1950s, further complicated the picture, as experts debated whether maternal deprivation was unique or simply a form of environmental stimulation. As experts strove to make sense of this new disorder, they relied on concepts of maternal and sensory deprivation, both to promote their own theories and to critique or refute those of their colleagues. This interplay between the two theories also informed new forms of intervention, including 'rage reduction therapy', which served as a precursor for controversial forms of therapy today termed as the 'attachment therapies'. This article sheds light on a little-known aspect of the history of autism, and examines the far-reaching effect popular etiological theories have in shaping debates over emerging medical concerns.
C1 Yale Univ, Sch Med, New Haven, CT 06520 USA.
RP Raz, M (reprint author), Yale Univ, Sch Med, 333 Cedar St, New Haven, CT 06520 USA.
EM mical.raz@yale.edu
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NR 77
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0952-6951
EI 1461-720X
J9 HIST HUM SCI
JI Hist. Hum. Sci.
PD APR
PY 2014
VL 27
IS 2
BP 75
EP 96
DI 10.1177/0952695113512491
PG 22
WC History & Philosophy Of Science; History Of Social Sciences
SC History & Philosophy of Science; Social Sciences - Other Topics
GA AE3OR
UT WOS:000333886300005
ER
PT J
AU Mukherjee, S
Rupani, K
Dave, M
Subramanyam, A
Shah, H
Kamath, R
AF Mukherjee, Sayantani
Rupani, Karishma
Dave, Malay
Subramanyam, Alka
Shah, Henal
Kamath, Ravindra
TI Evaluation of Effectiveness of Integrated Intervention in Autistic
Children
SO INDIAN JOURNAL OF PEDIATRICS
LA English
DT Article
DE Autism; Integrated therapy; Applied behavior analysis; Occupational
therapy; Speech therapy; Progress
ID BEHAVIORAL TREATMENT
AB To assess the effectiveness of integrated therapy over the past 3 y on the recipient autistic children and its correlation with the following variables - age at admission, duration of therapy given and initial severity of symptoms.
The index study was a retrospective study with 18 autistic children as subjects; the maximum duration of intervention was 3 y. The integrated approach consisted of special education using principles of applied behavior analysis, occupational and speech therapy. The progress records, the occupational therapy and the speech therapy progress reports were tabulated as data. The Childhood Autism Rating Scale (Schopler, Reichler and Renner, 1986) was used for evaluation of severity of symptoms at admission and in present day. The data was then compared and analyzed.
The present study showed significant positive results. Only few domains requiring very high integrated cognitive and sensorimotor functioning showed non-significant results. Age at intervention correlated negatively and, duration of therapy given and initial severity of symptoms correlated positively with effectiveness of therapy.
Continuous feedback and modification of the therapy is required to maintain performance and develop target interventions for problematic areas identified. Longitudinal as well as comparative studies are required to better understand the benefits of integrated approach.
C1 [Mukherjee, Sayantani; Subramanyam, Alka; Shah, Henal; Kamath, Ravindra] Topiwalla Natl Med Coll, Dept Psychiat, Bombay, Maharashtra, India.
[Mukherjee, Sayantani; Dave, Malay; Subramanyam, Alka; Shah, Henal; Kamath, Ravindra] BYL Nair Charitable Hosp, Bombay, Maharashtra, India.
[Rupani, Karishma] Seth GS Med Coll & KEM Hosp, Bombay, Maharashtra, India.
[Dave, Malay] Topiwalla Natl Med Coll, Bombay, Maharashtra, India.
RP Mukherjee, S (reprint author), B-701 Laxmi Tower,Plot 07,Sect 42,Opposite Seawoo, Navi Mumbai 400706, Maharashtra, India.
EM metinni@yahoo.co.in
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NR 25
TC 0
Z9 0
PU ALL INDIA INST MEDICAL SCIENCES
PI NEW DELHI
PA ANSARI NAGAR, NEW DELHI 110 029, INDIA
SN 0019-5456
EI 0973-7693
J9 INDIAN J PEDIATR
JI Indian J. Pediatr.
PD APR
PY 2014
VL 81
IS 4
BP 339
EP 345
DI 10.1007/s12098-013-1169-6
PG 7
WC Pediatrics
SC Pediatrics
GA AE7JL
UT WOS:000334173700004
PM 24057967
ER
PT J
AU Clawson, A
Clayson, PE
Worsham, W
Johnston, O
South, M
Larson, MJ
AF Clawson, Ann
Clayson, Peter E.
Worsham, Whitney
Johnston, Oliver
South, Mikle
Larson, Michael J.
TI How about watching others? Observation of error-related feedback by
others in autism spectrum disorders
SO INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY
LA English
DT Article
DE Self-monitoring; Other-monitoring; Feedback-related negativity;
Error-related negativity; ERP; Autism
ID EVENT-RELATED POTENTIALS; MEDIAL-FRONTAL-CORTEX; ANTERIOR CINGULATE
CORTEX; HIGH-FUNCTIONING AUTISM; COGNITIVE CONTROL; REWARD PREDICTION;
DIFFERENTIAL ACTIVATION; SOCIAL IMPAIRMENTS; BRAIN POTENTIALS; NEURAL
BASIS
AB Research indicates that individuals with autism spectrum disorders (ASD) may have a reduced ability to utilize performance feedback to regulate their behavior; however, it is unclear to what degree alterations in the environmental context affect feedback processing and contribute to the symptoms of ASD. We utilized the observational FRN (oFRN), an event-related potential (ERP) component that putatively indexes feedback processing while observing feedback directed toward another person, to examine the influence of motivational and social demands on feedback processing in ASD. High-density electroencephalogram recordings were collected from 38 youth with ASD and 31 control participants similar on age and IQ while they observed a confederate performing a modified Eriksen Flanker task. Participants were instructed to count the confederate's errors and were told that they would be awarded based on performance; the confederate would either earn points for the participant or herself. Both groups showed robust oFRN activity on traditional scalp-electrode waveforms and waveforms identified using temporospatial principal components analysis. Amplitude of oFRN did not differentiate groups. Results remained non-significant when comparing medicated to non-medicated participants. There were no significant correlations between oFRN amplitudes, autism symptom severity, and anxiety symptoms. Findings suggest that the social context of the task and motivational significance of the confederate's performance did not limit feedback processing in ASD. Future research in which the context is manipulated further is warranted to determine whether increased environmental complexity influences feedback processing in ASD. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Clawson, Ann; Worsham, Whitney; South, Mikle; Larson, Michael J.] Brigham Young Univ, Dept Psychol, Provo, UT 84602 USA.
[Clayson, Peter E.] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90024 USA.
[Johnston, Oliver] Brigham Young Univ, Marriott Sch Management, Provo, UT 84602 USA.
[South, Mikle; Larson, Michael J.] Brigham Young Univ, Ctr Neurosci, Provo, UT 84602 USA.
RP Larson, MJ (reprint author), Brigham Young Univ, 244 TLRB, Provo, UT 84602 USA.
EM michael_larson@byu.edu
RI Larson, Michael/C-8543-2012
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NR 81
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0167-8760
EI 1872-7697
J9 INT J PSYCHOPHYSIOL
JI Int. J. Psychophysiol.
PD APR
PY 2014
VL 92
IS 1
BP 26
EP 34
DI 10.1016/j.ijpsycho.2014.01.009
PG 9
WC Psychology, Biological; Neurosciences; Physiology; Psychology;
Psychology, Experimental
SC Psychology; Neurosciences & Neurology; Physiology
GA AE6XP
UT WOS:000334141600004
ER
PT J
AU Schnaar, RL
Gerardy-Schahn, R
Hildebrandt, H
AF Schnaar, Ronald L.
Gerardy-Schahn, Rita
Hildebrandt, Herbert
TI SIALIC ACIDS IN THE BRAIN: GANGLIOSIDES AND POLYSIALIC ACID IN NERVOUS
SYSTEM DEVELOPMENT, STABILITY, DISEASE, AND REGENERATION
SO PHYSIOLOGICAL REVIEWS
LA English
DT Review
ID CELL-ADHESION-MOLECULE; MYELIN-ASSOCIATED GLYCOPROTEIN;
GUILLAIN-BARRE-SYNDROME; PSA-NCAM EXPRESSION; LONG-TERM POTENTIATION;
SPINAL-CORD-INJURY; LACKING COMPLEX GANGLIOSIDES; ROSTRAL MIGRATORY
STREAM; TEMPORAL-LOBE EPILEPSY; MILLER-FISHER-SYNDROME
AB Every cell in nature carries a rich surface coat of glycans, its glycocalyx, which constitutes the cell's interface with its environment. In eukaryotes, the glycocalyx is composed of glycolipids, glycoproteins, and proteoglycans, the compositions of which vary among different tissues and cell types. Many of the linear and branched glycans on cell surface glycoproteins and glycolipids of vertebrates are terminated with sialic acids, nine-carbon sugars with a carboxylic acid, a glycerol side-chain, and an N-acyl group that, along with their display at the outmost end of cell surface glycans, provide for varied molecular interactions. Among their functions, sialic acids regulate cell-cell interactions, modulate the activities of their glycoprotein and glycolipid scaffolds as well as other cell surface molecules, and are receptors for pathogens and toxins. In the brain, two families of sialoglycans are of particular interest: gangliosides and polysialic acid. Gangliosides, sialylated glycosphingolipids, are the most abundant sialoglycans of nerve cells. Mouse genetic studies and human disorders of ganglioside metabolism implicate gangliosides in axon-myelin interactions, axon stability, axon regeneration, and the modulation of nerve cell excitability. Polysialic acid is a unique homopolymer that reaches >90 sialic acid residues attached to select glycoproteins, especially the neural cell adhesion molecule in the brain. Molecular, cellular, and genetic studies implicate polysialic acid in the control of cell-cell and cell-matrix interactions, intermolecular interactions at cell surfaces, and interactions with other molecules in the cellular environment. Polysialic acid is essential for appropriate brain development, and polymorphisms in the human genes responsible for polysialic acid biosynthesis are associated with psychiatric disorders including schizophrenia, autism, and bipolar disorder. Polysialic acid also appears to play a role in adult brain plasticity, including regeneration. Together, vertebrate brain sialoglycans are key regulatory components that contribute to proper development, maintenance, and health of the nervous system.
C1 Johns Hopkins Univ, Sch Med, Dept Pharmacol, Baltimore, MD 21205 USA.
Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA.
Hannover Med Sch, Inst Cellular Chem, Hannover, Germany.
RP Schnaar, RL (reprint author), Johns Hopkins Univ, Sch Med, Dept Pharmacol & Mol Sci, 725 N Wolfe St, Baltimore, MD 21205 USA.
EM schnaar@jhu.edu
RI Hildebrandt, Herbert/A-7873-2010
OI Hildebrandt, Herbert/0000-0002-1044-0881
FU National Institute of Neurological Disorders and Stroke [NS037096,
NS057338]; Deutsche Forschungsgemeinschaft; Deutsche Krebshilfe;
European Commission; German Ministry for Research and Education in the
frame of ERA-NET NEURON (NeuConnect)
FX We acknowledge the support of National Institute of Neurological
Disorders and Stroke Grants NS037096 and NS057338 (to R. L. Schnaar).
Work at Hannover Medical School was supported by funds from the Deutsche
Forschungsgemeinschaft, Deutsche Krebshilfe, the Sixth Framework Program
of the European Commission (FP6 PROME-MORIA), and the German Ministry
for Research and Education in the frame of ERA-NET NEURON (NeuConnect).
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NR 589
TC 16
Z9 17
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0031-9333
EI 1522-1210
J9 PHYSIOL REV
JI Physiol. Rev.
PD APR
PY 2014
VL 94
IS 2
BP 461
EP 518
DI 10.1152/physrev.00033.2013
PG 58
WC Physiology
SC Physiology
GA AF2YD
UT WOS:000334577500005
PM 24692354
ER
PT J
AU Rizzolatti, G
Cattaneo, L
Fabbri-Destro, M
Rozzi, S
AF Rizzolatti, Giacomo
Cattaneo, Luigi
Fabbri-Destro, Maddalena
Rozzi, Stefano
TI CORTICAL MECHANISMS UNDERLYING THE ORGANIZATION OF GOAL-DIRECTED ACTIONS
AND MIRROR NEURON-BASED ACTION UNDERSTANDING
SO PHYSIOLOGICAL REVIEWS
LA English
DT Review
ID VENTRAL PREMOTOR CORTEX; TRANSCRANIAL MAGNETIC STIMULATION; PRIMARY
MOTOR CORTEX; POSTERIOR PARIETAL CORTEX; AUTISM SPECTRUM DISORDERS;
SUPERIOR TEMPORAL SULCUS; ENVIRONMENTAL DEPENDENCY SYNDROME; GRASP
MOVEMENT REPRESENTATION; ADJACENT CINGULATE CORTEX; EXECUTION MATCHING
SYSTEM
AB Our understanding of the functions of motor system evolved remarkably in the last 20 years. This is the consequence not only of an increase in the amount of data on this system but especially of a paradigm shift in our conceptualization of it. Motor system is not considered anymore just a "producer" of movements, as it was in the past, but a system crucially involved in cognitive functions. In the present study we review the data on the cortical organization underlying goal-directed actions and action understanding. Our review is subdivided into two major parts. In the first part, we review the anatomical and functional organization of the premotor and parietal areas of monkeys and humans. We show that the parietal and frontal areas form circuits devoted to specific motor functions. We discuss, in particular, the visuo-motor transformation necessary for reaching and for grasping. In the second part we show how a specific neural mechanism, the mirror mechanism, is involved in understanding the action and intention of others. This mechanism is located in the same parieto-frontal circuits that mediate goal-directed actions. We conclude by indicating future directions for studies on the mirror mechanism and suggest some major topics for forthcoming research.
C1 [Rizzolatti, Giacomo] Univ Parma, Dept Neurosci, I-43100 Parma, Italy.
Univ Trento, Ctr Mind Brain Sci, Trento, Italy.
Italian Inst Technol, Brain Ctr Motor & Social Cognit, Parma, Italy.
RP Rizzolatti, G (reprint author), Univ Parma, Dept Neurosci, Via Volturno,39-E, I-43100 Parma, Italy.
EM giacomo.rizzolatti@unipr.it
FU European Grant "Cog-systems"; Rete Multidisciplinare Tecnolgica
(RTM-IIT)
FX This study was supported by the European Grant "Cog-systems" and by Rete
Multidisciplinare Tecnolgica (RTM-IIT).
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NR 413
TC 12
Z9 13
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0031-9333
EI 1522-1210
J9 PHYSIOL REV
JI Physiol. Rev.
PD APR
PY 2014
VL 94
IS 2
BP 655
EP 706
DI 10.1152/physrev.00009.2013
PG 52
WC Physiology
SC Physiology
GA AF2YD
UT WOS:000334577500008
PM 24692357
ER
PT J
AU Brett, M
McPherson, J
Zang, ZJ
Lai, A
Tan, ES
Ng, I
Ong, LC
Cham, B
Tan, P
Rozen, S
Tan, EC
AF Brett, Maggie
McPherson, John
Zang, Zhi Jiang
Lai, Angeline
Tan, Ee-Shien
Ng, Ivy
Ong, Lai-Choo
Cham, Breana
Tan, Patrick
Rozen, Steve
Tan, Ene-Choo
TI Massively Parallel Sequencing of Patients with Intellectual Disability,
Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted
Gene Panel
SO PLOS ONE
LA English
DT Article
ID DE-NOVO MUTATIONS; PERIVENTRICULAR NODULAR HETEROTOPIA;
MENTAL-RETARDATION; JOUBERT-SYNDROME; IDENTIFICATION; ENZYME; FOXP1;
AHI1
AB Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20x, with average read depths overlapping targets ranging from 322x to 798x. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. However, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism.
C1 [Brett, Maggie; Tan, Ene-Choo] KK Womens & Childrens Hosp, KK Res Ctr, Singapore, Singapore.
[McPherson, John; Tan, Patrick; Rozen, Steve] Duke NUS Grad Med Sch, Singapore, Singapore.
[Zang, Zhi Jiang; Tan, Patrick] Natl Canc Ctr, Singapore, Singapore.
[Lai, Angeline; Tan, Ee-Shien; Ng, Ivy; Cham, Breana] KK Womens & Childrens Hosp, Genet Serv, Singapore, Singapore.
[Ong, Lai-Choo] Univ Malaya Med Ctr, Petaling Jaya, Malaysia.
RP Tan, EC (reprint author), KK Womens & Childrens Hosp, KK Res Ctr, Singapore, Singapore.
EM tanec@bigfoot.com
FU Agency for Science and Technology and Research [BMRC 06/1/50/19/485];
National Medical Research Council, Ministry of Health, Republic of
Singapore [NMRC/PPG/KKH12010-Theme3]
FX This study is funded by Grant number BMRC 06/1/50/19/485 from the Agency
for Science and Technology and Research; and NMRC/PPG/KKH12010-Theme3
from the National Medical Research Council, Ministry of Health, Republic
of Singapore. The funders had no role in study design, data collection
and analysis, decision to publish, or preparation of the manuscript.
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NR 34
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD APR 1
PY 2014
VL 9
IS 4
AR e93409
DI 10.1371/journal.pone.0093409
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AE6KM
UT WOS:000334101100076
PM 24690944
ER
PT J
AU Liu, EY
Scott, CT
AF Liu, Emily Yang
Scott, Christopher Thomas
TI Great Expectations: Autism Spectrum Disorder and Induced Pluripotent
Stem Cell Technologies
SO STEM CELL REVIEWS AND REPORTS
LA English
DT Article
DE Induced pluripotent stemcells; Human embryonic stem cells; Autism
spectrum disorder; Biobanks; Ethics; Informed consent; Patient autonomy
ID BIOBANK RESEARCH; CONSENT; MEDICINE; BANKING; ISSUES; LEGAL
AB New applications of iPSC technology to research on complex idiopathic conditions raise several important ethical and social considerations for potential research participants and their families. In this short review, we examine these issues through the lens of emerging research on autism spectrum disorder (ASD). We begin by describing the current state of iPSC technology in research on ASD. Then we discuss how the social history of and current controversies in autism research combined with the emergence of autism-specific iPSC biobanks indicate an urgent need for researchers to clearly communicate the limitations and possibilities of iPSC research to ensure research participants have the ability to provide fully informed, voluntary consent. We conclude by offering recommendations to bolster informed consent for research involving iPSC biobanks, both in the specific context of ASD and more broadly.
C1 [Liu, Emily Yang; Scott, Christopher Thomas] Stanford Univ, Ctr Biomed Eth, Stanford, CA 94305 USA.
[Scott, Christopher Thomas] Stanford Univ, Program Stem Cells Soc, Stanford, CA 94305 USA.
RP Liu, EY (reprint author), Stanford Univ, Ctr Biomed Eth, Stanford, CA 94305 USA.
EM eyliu@stanford.edu
FU Stanford Center for Biomedical Ethics; NIH [P50 HG003389]; Stanford
Institute for Stem Cell Biology and Regenerative Medicine
FX EYL is supported by the Stanford Center for Biomedical Ethics and NIH
grant P50 HG003389 (Center for Integrating Ethics and Genetics
Research). CTS is supported by the Stanford Center for Biomedical Ethics
and the Stanford Institute for Stem Cell Biology and Regenerative
Medicine. The authors thank Lauren C. Milner for her contribution to the
conceptual phase of this work and Vittorio Sebastiano for his valuable
assistance with the manuscript.
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NR 52
TC 3
Z9 3
PU HUMANA PRESS INC
PI TOTOWA
PA 999 RIVERVIEW DRIVE SUITE 208, TOTOWA, NJ 07512 USA
SN 1550-8943
EI 1558-6804
J9 STEM CELL REV REP
JI Stem Cell Rev. Rep.
PD APR
PY 2014
VL 10
IS 2
BP 145
EP 150
DI 10.1007/s12015-014-9497-0
PG 6
WC Cell & Tissue Engineering; Cell Biology; Medicine, Research &
Experimental
SC Cell Biology; Research & Experimental Medicine
GA AE6CZ
UT WOS:000334077900001
PM 24488263
ER
PT J
AU Keysers, C
Gazzola, V
AF Keysers, Christian
Gazzola, Valeria
TI Dissociating the ability and propensity for empathy
SO TRENDS IN COGNITIVE SCIENCES
LA English
DT Editorial Material
ID PSYCHOPATHY; RECOGNITION; BRAIN
AB Neuroimaging suggests psychopaths have reduced vicarious activations when simply witnessing pain but less so when asked to empathize. This inspired us to distinguish the ability from the propensity to empathize. We argue that (i) this ability-propensity distinction is crucial to characterizing empathy in psychiatric disorders such as psychopathy and autism, (ii) that costly helping might be best predicted by the propensity for empathy, and (iii) suggest how social neuroscientists can start exploring this distinction.
C1 [Keysers, Christian; Gazzola, Valeria] Royal Netherlands Acad Arts & Sci, Netherlands Inst Neurosci, Social Brain Lab, NL-1105 BA Amsterdam, Netherlands.
[Keysers, Christian; Gazzola, Valeria] Univ Groningen, Univ Med Ctr Groningen, Dept Neurosci, Groningen, Netherlands.
RP Keysers, C (reprint author), Royal Netherlands Acad Arts & Sci, Netherlands Inst Neurosci, Social Brain Lab, Meibergdreef 47, NL-1105 BA Amsterdam, Netherlands.
EM c.keysers@nin.knaw.nl; v.gazzola@nin.knaw.nl
FU European research Council (ERC) from the European Commission [312511];
Netherlands Organisation for Scientific Research (NWO) [451-09-006]
FX C.K. is supported by a European research Council (ERC) grant
'VicariousBrain' (312511) from the European Commission, and V.G. by Veni
grant 451-09-006 from the Netherlands Organisation for Scientific
Research (NWO). We thank Dan Batson, Harma Meffert, Claus Lamm, and
Michael Spezio for comments that helped shape this paper. We thank Claus
Lamm for sending us the maps used to generate Figure 1B, and Jason
Buhle, Jennifer Silvers, and Kevin Ochsner for sending us those to
generate Figure 1D.
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NR 14
TC 7
Z9 7
PU ELSEVIER SCIENCE LONDON
PI LONDON
PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND
SN 1364-6613
J9 TRENDS COGN SCI
JI TRENDS COGN. SCI.
PD APR
PY 2014
VL 18
IS 4
BP 163
EP 166
DI 10.1016/j.tics.2013.12.011
PG 4
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AE6UA
UT WOS:000334132200001
PM 24484764
ER
PT J
AU Calvo, PL
Brunati, A
Spada, M
Romagnoli, R
Corso, G
Parenti, G
Rossi, M
Baldi, M
Carbonaro, G
David, E
Pucci, A
Amoroso, A
Salizzoni, M
AF Calvo, P. L.
Brunati, A.
Spada, M.
Romagnoli, R.
Corso, G.
Parenti, G.
Rossi, M.
Baldi, M.
Carbonaro, G.
David, E.
Pucci, A.
Amoroso, A.
Salizzoni, M.
TI Liver Transplantation in Defects of Cholesterol Biosynthesis: The Case
of Lathosterolosis
SO AMERICAN JOURNAL OF TRANSPLANTATION
LA English
DT Article
DE Autism spectrum disorder; cholestasis; defects of cholesterol
biosyntesis; lathosterolosis; liver transplantation
ID LEMLI-OPITZ-SYNDROME; DEFICIENCY; RETARDATION; PHENOTYPE
AB We report the outcome of liver transplantation (LT) in the only surviving patient with lathosterolosis, a defect of cholesterol biosynthesis characterized by high lathosterol levels associated with progressive cholestasis, multiple congenital anomalies and mental retardation. From her diagnosis at age 2 she had shown autistic behavior, was unable to walk unaided and her sight was impaired by cataracts. By age 7 she developed end-stage liver disease. After a soul-searching discussion within the transplantation team, she was treated with LT as this represented her only lifesaving option. At 1-year follow-up, her lathosterol levels had returned to normal (0.61mg/dL from 13.042.65) and her nutrition improved. She began exploring her environment and walking by holding onto an adult's hand and then independently. Her brain magnetic resonance imaging (MRI) had shown a normal picture at age 1, whereas a volume reduction of white matter with ex vacuo ventricular dilatation and defective myelinization were observed before transplant. At 5-year follow-up, a complete biochemical recovery, an arrest of mental deterioration and a stable MRI picture were achieved, with a return to her every day life albeit with limitations. Timely liver transplant in defects of cholesterol biosynthesis might arrest the progression of neurological damage.
Liver transplantation corrects the metabolic unbalance in a child with lathosterolosis (OMIM #607330) and favors amelioration of her neurodevelopmental delay.
C1 [Calvo, P. L.; Spada, M.; Baldi, M.; Pucci, A.] Univ Turin, Dept Pediat, Azienda Osped Citta Salute & Sci, I-10124 Turin, Italy.
[Brunati, A.; Romagnoli, R.; Carbonaro, G.; Salizzoni, M.] Univ Turin, Liver Transplantat Ctr, Azienda Osped Citta Salute & Sci, Turin, Italy.
[Corso, G.] Univ Foggia, Dept Clin & Expt Med, Foggia, Italy.
[Parenti, G.; Rossi, M.] Univ Naples Federico II, Dept Translat Med Sci, Naples, Italy.
[David, E.] Azienda Osped Citta Salute & Sci, Dept Pathol, Turin, Italy.
[Amoroso, A.] Univ Turin, Transplantat Immunol Serv, Azienda Osped Citta Salute & Sci, Turin, Italy.
RP Calvo, PL (reprint author), Univ Turin, Dept Pediat, Azienda Osped Citta Salute & Sci, I-10124 Turin, Italy.
EM pierluigi.calvo@fastwebnet.it
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Rossi M, 2005, AM J MED GENET A, V132A, P144, DOI 10.1002/ajmg.a.30426
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Wassif CA, 2005, MOL GENET METAB, V85, P96, DOI 10.1016/j.ymgme.2004.12.009
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NR 20
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1600-6135
EI 1600-6143
J9 AM J TRANSPLANT
JI Am. J. Transplant.
PD APR
PY 2014
VL 14
IS 4
BP 960
EP 965
DI 10.1111/ajt.12645
PG 6
WC Surgery; Transplantation
SC Surgery; Transplantation
GA AD5UN
UT WOS:000333318800027
PM 24621408
ER
PT J
AU Zhu, HL
Fan, YB
Guo, H
Huang, D
He, SL
AF Zhu, Huilin
Fan, Yuebo
Guo, Huan
Huang, Dan
He, Sailing
TI Reduced interhemispheric functional connectivity of children with autism
spectrum disorder: evidence from functional near infrared spectroscopy
studies
SO BIOMEDICAL OPTICS EXPRESS
LA English
DT Article
ID BRAIN ACTIVITY; GLOBAL SIGNAL; NETWORKS; FMRI; UNDERCONNECTIVITY;
ORGANIZATION; ACTIVATION; HEAD; MRI
AB Autism spectrum disorder (ASD) is a neuro-developmental disorder, which has been associated with atypical neural synchronization. In this study, functional near infrared spectroscopy (fNIRS) was used to study the differences in functional connectivity in bilateral inferior frontal cortices (IFC) and bilateral temporal cortices (TC) between ASD and typically developing (TD) children between 8 and 11 years of age. As the first report of fNIRS study on the resting state functional connectivity (RSFC) in children with ASD, ten children with ASD and ten TD children were recruited in this study for 8 minute resting state measurement. Compared to TD children, children with ASD showed reduced interhemispheric connectivity in TC. Children with ASD also showed significantly lower local connectivity in bilateral temporal cortices. In contrast to TD children, children with ASD did not show typical patterns of symmetry in functional connectivity in temporal cortex. These results support the feasibility of using the fNIRS method to assess atypical functional connectivity of cortical responses of ASD and its potential application in diagnosis. (C) 2014 Optical Society of America
C1 [Zhu, Huilin; He, Sailing] S China Normal Univ, ZJU SCNU Joint Res Ctr Photon, Ctr Opt & Electromagnet Res, Guangzhou 510006, Guangdong, Peoples R China.
[Zhu, Huilin; Guo, Huan] S China Normal Univ, Sch Psychol, Guangzhou 510631, Guangdong, Peoples R China.
[Fan, Yuebo; Huang, Dan] Guangzhou Rehabil & Res Ctr Children ASD, Guangzhou 510540, Guangdong, Peoples R China.
[He, Sailing] Royal Inst Technol, Sch Elect Engn, Dept Elect Engn, JORCEP, S-10044 Stockholm, Sweden.
RP He, SL (reprint author), S China Normal Univ, ZJU SCNU Joint Res Ctr Photon, Ctr Opt & Electromagnet Res, Guangzhou 510006, Guangdong, Peoples R China.
EM sailing@kth.se
RI He, Sailing/C-2438-2009
OI He, Sailing/0000-0002-3401-1125
FU Guangdong Innovative Research Team Program [201001D0104799318]; National
Basic Research Program (973) of China [2011CB503700]; Guangdong Science
and Technology Program [2012B03180000]; Macau Foundation [CUM-16];
Swedish Research Council; SOARD
FX This work was supported by Guangdong Innovative Research Team Program
(No. 201001D0104799318), the National Basic Research Program (973) of
China (2011CB503700), Guangdong Science and Technology Program
(2012B03180000), Macau Foundation (CUM-16), the Swedish Research Council
and SOARD. We thank Prof. Jun Li in Centre for Optical and
Electromagnetic Research of SCNU for helping with data analysis and
imaging processing. We also thank Profs. Heyong Shen and Lan Gao of SCNU
for discussion, and Zhifang Zhu, Lina Qiu, Xinge Li and Wei Cao for
experiments.
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NR 48
TC 2
Z9 3
PU OPTICAL SOC AMER
PI WASHINGTON
PA 2010 MASSACHUSETTS AVE NW, WASHINGTON, DC 20036 USA
SN 2156-7085
J9 BIOMED OPT EXPRESS
JI Biomed. Opt. Express
PD APR 1
PY 2014
VL 5
IS 4
BP 1262
EP 1274
DI 10.1364/BOE.5.001262
PG 13
WC Biochemical Research Methods; Optics; Radiology, Nuclear Medicine &
Medical Imaging
SC Biochemistry & Molecular Biology; Optics; Radiology, Nuclear Medicine &
Medical Imaging
GA AE6DB
UT WOS:000334078100023
PM 24761305
ER
PT J
AU Silk, JS
Redcay, E
Fox, NA
AF Silk, Jennifer S.
Redcay, Elizabeth
Fox, Nathan A.
TI Contributions of social and affective neuroscience to our understanding
of typical and atypical development
SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE
LA English
DT Editorial Material
ID MAJOR DEPRESSIVE DISORDER; POSITIVE AFFECT; ADOLESCENT DEPRESSION;
BRAIN-DEVELOPMENT; TRIPARTITE MODEL; FACE RECOGNITION; REWARD; EMOTION;
ANXIETY; AUTISM
EM silkjx@UPMC.EDU
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NR 52
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1878-9293
EI 1878-9307
J9 DEV COGN NEUROS-NETH
JI Dev. Cogn. Neurosci.
PD APR
PY 2014
VL 8
BP 1
EP 6
DI 10.1016/j.dcn.2014.02.002
PG 6
WC Neurosciences
SC Neurosciences & Neurology
GA AE5HW
UT WOS:000334019400001
PM 24613509
ER
PT J
AU Vander Wyk, BC
Hoffman, F
Pelphrey, KA
AF Vander Wyk, Brent C.
Hoffman, Ferdinand
Pelphrey, Kevin A.
TI Equivalent neural responses in children and adolescents with and without
autism during judgments of affect
SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE
LA English
DT Article
DE Emotion; Autism; fMRI; Self referential processing; Connectivity
ID MEDIAL PREFRONTAL CORTEX; DIAGNOSTIC OBSERVATION SCHEDULE;
ASPERGER-SYNDROME; SPECTRUM DISORDER; BIOLOGICAL MOTION; SOCIAL
COGNITION; SELF; BRAIN; EMOTION; EMPATHY
AB Previous research has noted disrupted patterns of neural activation during emotion, processing in individuals with autism spectrum disorders (ASD). However, prior research relied on, designs that may place greater cognitive load on individuals with ASD. In order to address this issue, we adapted the fMRI task of Ochsner et al. (2004a) for children by, presenting fewer stimuli, with fewer valence levels, and longer stimuli duration. A localizer sample of, typically developing children (n = 26) was used to construct regions of interest involved in emotional, processing. Activations in these regions during self- and other-referential emotion processing was, compared in age, IQ, gender matched groups (n = 17 ASD, n = 16 TD). Matched samples replicate, condition contrasts of the localizer, but no group differences were found in behavior measures or, neural activation. An exploratory functional connectivity analysis in a subset of the matched groups, also did not detect striking differences between the groups. These findings suggest that disruptions in activation in emotion processing neural networks in ASD is partially a function of task related cognitive load. (C) 2013 The Authors. Published by Elsevier Ltd. All rights reserved.
C1 [Vander Wyk, Brent C.; Pelphrey, Kevin A.] Yale Univ, New Haven, CT 06520 USA.
[Hoffman, Ferdinand] Max Planck Inst Human Cognit & Brain Sci, D-04303 Leipzig, Germany.
RP Vander Wyk, BC (reprint author), Yale Univ, 230 South Frontage Rd, New Haven, CT 06520 USA.
EM brent.vanderwyk@yale.edu
FU NIMH; Simons Foundation
FX This work was supported by grants from the NIMH and the Simons
Foundation.
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NR 58
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1878-9293
EI 1878-9307
J9 DEV COGN NEUROS-NETH
JI Dev. Cogn. Neurosci.
PD APR
PY 2014
VL 8
BP 121
EP 130
DI 10.1016/j.dcn.2013.08.001
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AE5HW
UT WOS:000334019400014
PM 24016745
ER
PT J
AU Luyster, RJ
Powell, C
Tager-Flusberg, H
Nelson, CA
AF Luyster, Rhiannon J.
Powell, Christine
Tager-Flusberg, Helen
Nelson, Charles A.
TI Neural measures of social attention across the first years of life:
Characterizing typical development and markers of autism risk
SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE
LA English
DT Article
DE Autism; ASD; ERP; Event-related potentials; Infancy
ID EVENT-RELATED POTENTIALS; SPECTRUM DISORDERS; FACE RECOGNITION;
6-MONTH-OLD INFANTS; FAMILIAR FACES; YOUNG-CHILDREN; ATYPICAL FACE; EYE
GAZE; ERP; SENSITIVITY
AB Few studies employing event-related potentials (ERPs) to examine infant perception/cognition have systematically characterized age-related changes over the first few years of life. Establishing a 'normative' template of development is important in its own right, and doing so may also better highlight points of divergence for high-risk populations of infants, such as those at elevated genetic risk for autism spectrum disorder (ASD). The present investigation explores the developmental progression of the P1, N290, P400 and Nc components for a large sample of young children between 6 and 36 months of age, addressing age-related changes in amplitude, sensitivity to familiar and unfamiliar stimuli and hemispheric lateralization. Two samples of infants are included: those at low- and high-risk for ASD. The four components of interest show differential patterns of change over time and hemispheric lateralization; however, infants at low- and high-risk for ASD do not show significant differences in patterns of neural response to faces. These results will provide a useful point of reference for future developmental cognitive neuroscience research targeting both typical development and vulnerable populations. (C) 2013 The Authors. Published by Elsevier Ltd. All rights reserved.
C1 [Luyster, Rhiannon J.] Emerson Coll, Dept Commun Sci & Disorders, Boston, MA 02116 USA.
[Luyster, Rhiannon J.; Nelson, Charles A.] Harvard Univ, Sch Med, Boston Childrens Hosp, Cambridge, MA 02138 USA.
[Powell, Christine] Boston Childrens Hosp, Clin Res Ctr, Boston, MA USA.
[Tager-Flusberg, Helen] Boston Univ, Dept Psychol, Boston, MA 02215 USA.
RP Luyster, RJ (reprint author), Emerson Coll, Dept Commun Sci & Disorders, 120 Boylston St, Boston, MA 02116 USA.
EM rhiannon_luyster@emerson.edu
FU NIH [R21DC08637]; NIDCD [1R01DC010290-01]; Simons Foundation [137186];
Autism Speaks Pilot Grants Program
FX We would like to thank the Infant Sibling Project staff, past and
present, for their hard work in collecting these data. We are very
grateful for the assistance of Brandon Keehn, Alexandra Libby and Ella
Kipervasser with data processing, and we thank Vanessa Vogel-Farley for
her constant guidance. Finally, we want to acknowledge the very
dedicated families who committed years of their lives to the Infant
Sibling Project and who made this work possible. Funding was provided by
NIH (R21DC08637) to H.T-F., NIDCD (1R01DC010290-01) to C.A.N. and H.
T-F., the Simons Foundation (137186) to C.A.N. and the Autism Speaks
Pilot Grants Program to H.T-F.
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NR 34
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1878-9293
EI 1878-9307
J9 DEV COGN NEUROS-NETH
JI Dev. Cogn. Neurosci.
PD APR
PY 2014
VL 8
BP 131
EP 143
DI 10.1016/j.dcn.2013.09.006
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AE5HW
UT WOS:000334019400015
PM 24183618
ER
PT J
AU Rice, K
Viscomi, B
Riggins, T
Redcay, E
AF Rice, Katherine
Viscomi, Brieana
Riggins, Tracy
Redcay, Elizabeth
TI Amygdala volume linked to individual differences in mental state
inference in early childhood and adulthood
SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE
LA English
DT Article
DE Social cognition; Theory of mind; Amygdala; Individual differences;
Early childhood
ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; FACIAL EXPRESSIONS;
BRAIN-DEVELOPMENT; ASPERGER-SYNDROME; STRUCTURAL MRI; TEMPORAL-LOBE;
FALSE BELIEF; MIND; CHILDREN
AB We investigated the role of the amygdala in mental state inference in a sample of adults and in a sample of children aged 4 and 6 years. This period in early childhood represents a time when mentalizing abilities undergo dramatic changes. Both children and adults inferred mental states from pictures of others' eyes, and children also inferred the mental states of others from stories (e. g., a false belief task). We also collected structural MRI data from these participants, to determine whether larger amygdala volumes (controlling for age and total gray matter volume) were related to better face-based and story-based mentalizing. For children, larger amygdala volumes were related to better face-based, but not story-based, mentalizing. In contrast, in adults, amygdala volume was not related to face-based mentalizing. We next divided the face-based items into two subscales: cognitive (e. g., thinking, not believing) versus affective (e. g., friendly, kind) items. For children, performance on cognitive items was positively correlated with amygdala volume, but for adults, only performance on affective items was positively correlated with amygdala volume. These results indicate that the amygdala's role in mentalizing may be specific to face-based tasks and that the nature of its involvement may change over development. (C) 2013 The Authors. Published by Elsevier Ltd. All rights reserved.
C1 [Rice, Katherine; Viscomi, Brieana; Riggins, Tracy; Redcay, Elizabeth] Univ Maryland, Dept Psychol, College Pk, MD 20742 USA.
RP Redcay, E (reprint author), Univ Maryland, Dept Psychol, College Pk, MD 20742 USA.
EM redcay@umd.edu
FU NSF GRF; UMD Dean's Research Initiative; Maryland Neuroimaging Center
Seed grant
FX The authors wish to thank Jeremiah Baker, Viviana Bauman, Sarah
Blankenship, Seleste Braddock, Robert Cai, Shannon Coveney, Nina
Lichtenberg, Ruth Ludlum, Daniel O'Young, and Lauren Weiss for their
assistance. The authors also thank Dan Kennedy for comments on a
previous version of this manuscript. This study was supported by an NSF
GRF to K. R. and by a UMD Dean's Research Initiative and a Maryland
Neuroimaging Center Seed grant to E. R. and T.R.
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NR 62
TC 3
Z9 3
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1878-9293
EI 1878-9307
J9 DEV COGN NEUROS-NETH
JI Dev. Cogn. Neurosci.
PD APR
PY 2014
VL 8
BP 153
EP 163
DI 10.1016/j.dcn.2013.09.003
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AE5HW
UT WOS:000334019400017
PM 24139023
ER
PT J
AU Baudouin, SJ
AF Baudouin, Stephane J.
TI Heterogeneity and convergence: the synaptic pathophysiology of autism
SO EUROPEAN JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE metabotropic glutamate receptor type I; pathophysiology; genetic mouse
models; Neuroligin; Prosap/Shank; autism spectrum disorders
ID FRAGILE-X-SYNDROME; METABOTROPIC GLUTAMATE-RECEPTOR; LONG-TERM
DEPRESSION; MOUSE MODEL; POSTSYNAPTIC DENSITY; MENTAL-RETARDATION;
MUTANT MICE; INHIBITORY SYNAPSES; SOCIAL-INTERACTION; SHANK FAMILY
AB Autism is a developmental disorder characterised by a high heterogeneity of clinical diagnoses and genetic associations. This heterogeneity is a challenge for the identification of the pathophysiology of the disease and for the development of new therapeutic strategies. New conceptual approaches are being used to try to challenge this complexity and gene cluster analysis studies suggest that the pathophysiology of autism is associated with a dysregulation of specific cellular mechanisms. This review will present the experimental evidence for a convergence of synaptic pathophysiology between syndromic and non-syndromic forms of autism, grouped under the generic term of autism spectrum disorders. In particular I will highlight the results from genetic mouse models identifying a convergence of dysregulation of the synaptic type I metabotropic glutamate receptor pathway in mouse models for autism spectrum disorders. These results help to build a new conceptual framework for the study of the synaptic phenotype of autism, which is important for the identification of new therapeutic strategies.
C1 [Baudouin, Stephane J.] Univ Basel, Biozentrum, Basel, Switzerland.
[Baudouin, Stephane J.] Cardiff Univ, Sch Biosci, Neurosci Div, Cardiff CF10 3AX, S Glam, Wales.
RP Baudouin, SJ (reprint author), Cardiff Univ, Sch Biosci, Neurosci Div, Cardiff CF10 3AX, S Glam, Wales.
EM BaudouinS@cardiff.ac.uk
FU National Center for Competence in Research - Synapsy; EU-AIMS (European
Autism Interventions) initiative
FX I am grateful to Peter Scheiffele, Emily Sylwestrak and Harald Witte for
comments on the manuscript. My work was supported by grants from the
National Center for Competence in Research - Synapsy and the EU-AIMS
(European Autism Interventions) initiative attributed to Peter
Scheiffele.
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NR 67
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0953-816X
EI 1460-9568
J9 EUR J NEUROSCI
JI Eur. J. Neurosci.
PD APR
PY 2014
VL 39
IS 7
SI SI
BP 1107
EP 1113
DI 10.1111/ejn.12498
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA AE3PE
UT WOS:000333887600006
PM 24712990
ER
PT J
AU O'Connor, EC
Bariselli, S
Bellone, C
AF O'Connor, Eoin C.
Bariselli, Sebastiano
Bellone, Camilla
TI Synaptic basis of social dysfunction: a focus on postsynaptic proteins
linking group-I mGluRs with AMPARs and NMDARs
SO EUROPEAN JOURNAL OF NEUROSCIENCE
LA English
DT Review
DE NMDAR; AMPAR; Autism; mGluR; development
ID AUTISM SPECTRUM DISORDERS; FRAGILE-X-SYNDROME; METABOTROPIC GLUTAMATE
RECEPTORS; LONG-TERM DEPRESSION; 90/POSTSYNAPTIC DENSITY-95-ASSOCIATED
PROTEIN; DENDRITIC SPINE MORPHOLOGY; KINASE-ASSOCIATED PROTEIN;
CELL-ADHESION MOLECULE; KNOCKOUT MOUSE MODEL; MICE LACKING
AB Most of us engage in social interactions on a daily basis and the repertoire of social behaviors we acquire during development and later in life are incredibly varied. However, in many neurodevelopmental disorders, including autism spectrum disorders (ASDs), social behavior is severely compromised and indeed this represents a key diagnostic component for such conditions. From genetic association studies, it is increasingly apparent that genes identified as altered in individuals with ASDs often encode synaptic proteins. Moreover, these synaptic proteins typically serve to scaffold group-I metabotropic glutamate receptors (group-I mGluRs) and ionotropic glutamate receptors (iGluRs; AMPARs and NMDARs), or to enable group-I mGluR to iGluR crosstalk via protein synthesis. Here we aim to explore the possibility of a causal link between altered function of such synaptic proteins and impaired social behaviors that feature in neurodevelopmental disorders, such as ASDs. We review the known synaptic function and role in social behaviors of selected post-synaptic structural proteins (Shank, SAPAP and neuroligin) and regulators of protein synthesis (TSC1/2, FMRP and PTEN). While manipulations of proteins involved in group-I mGluR and iGluR scaffolding or crosstalk frequently lead to profound alterations in synaptic function and one or more components of social behavior, the neuronal circuits responsible for impairments in specific social behaviors are often poorly defined. We argue for an improved understanding of the neuronal circuits underlying specific social behaviors to aid the development of new ASD therapies.
C1 [O'Connor, Eoin C.; Bariselli, Sebastiano; Bellone, Camilla] Univ Geneva, Fac Med, Dept Basic Neurosci, CH-1211 Geneva, Switzerland.
RP Bellone, C (reprint author), Univ Geneva, Fac Med, Dept Basic Neurosci, 1 Rue Michel Servet, CH-1211 Geneva, Switzerland.
EM camilla.bellone@unige.ch
FU Swiss National Science Foundation; SFARI (Simons Foundation); Ambizione
program of the Swiss National Science Foundation
FX We thank Christian Luscher for helpful discussions and suggestions
regarding the manuscripts. E.O.C. is supported by the Swiss National
Science Foundation S.B. is supported by SFARI (Simons Foundation). C.B.
is supported by the Ambizione program of the Swiss National Science
Foundation.
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NR 132
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0953-816X
EI 1460-9568
J9 EUR J NEUROSCI
JI Eur. J. Neurosci.
PD APR
PY 2014
VL 39
IS 7
SI SI
BP 1114
EP 1129
DI 10.1111/ejn.12510
PG 16
WC Neurosciences
SC Neurosciences & Neurology
GA AE3PE
UT WOS:000333887600007
PM 24712991
ER
PT J
AU Palumbo, P
Antona, V
Palumbo, O
Piccione, M
Nardello, R
Fontana, A
Carella, M
Corsello, G
AF Palumbo, Pietro
Antona, Vincenzo
Palumbo, Orazio
Piccione, Maria
Nardello, Rosaria
Fontana, Antonina
Carella, Massimo
Corsello, Giovanni
TI Variable phenotype in 17q12 microdeletions: Clinical and molecular
characterization of a new case
SO GENE
LA English
DT Article
DE HNF1B; 17q12; SNP array; Renal Cysts and Diabetes syndrome; Intellectual
disability
ID HEPATOCYTE NUCLEAR FACTOR-1-BETA; DEVELOPMENTAL LANGUAGE DISORDERS;
GENOMIC REARRANGEMENTS; CHROMOSOME 17Q12; RENAL CYSTS; SPECTRUM; AUTISM;
SCHIZOPHRENIA; DELETION; RISK
AB Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH, OMIM 277000) in females and, recently, were associated with intellectual disability, autistic features, cerebral anomaly and facial dysmorphisms.
In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay and autistic features. In addition, obesity was observed. In order to study the parental origin of the rearrangement, we analyzed selected SNPs in the deleted area in the patient and his parents, showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of maternal origin.
Our case confirms the incomplete penetrance and variable expressivity of this deletion, its complex clinical variability, and strengthens the evidence that ID and stereotyped behaviors may be part of the phenotypic spectrum characterizing the affected patients. Also, it is useful to further delineate the phenotypes associated to the deletion being the first case in which obesity has been documented. We present a genotype-phenotype correlation discussing the possible role of some genes, encompassed by the deletion, in the etiology of the observed phenotypes. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Palumbo, Pietro; Palumbo, Orazio; Carella, Massimo] IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, Italy.
[Palumbo, Pietro] Univ Bari, Dept Biol, Bari, Italy.
[Antona, Vincenzo; Piccione, Maria; Nardello, Rosaria; Fontana, Antonina; Corsello, Giovanni] Univ Palermo, Dipartimento Sci Promoz Salute & Materno Infantil, Palermo, Italy.
RP Carella, M (reprint author), IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, Italy.
EM m.carella@operapadrepio.it
RI Palumbo, Pietro/H-9533-2014; PALUMBO, ORAZIO/C-1133-2014
OI Palumbo, Pietro/0000-0001-9498-9902; PALUMBO, ORAZIO/0000-0001-6583-3482
FU Italian Ministry of Health
FX This study was supported by a grant from the Italian Ministry of Health
(Ricerca Corrente 2013) and by the "5x1000" voluntary contributions to
MC. We would like to thank the patient and his family for their
cooperation.
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NR 24
TC 2
Z9 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
EI 1879-0038
J9 GENE
JI Gene
PD APR 1
PY 2014
VL 538
IS 2
BP 373
EP 378
DI 10.1016/j.gene.2014.01.050
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA AE2FP
UT WOS:000333789000023
PM 24487052
ER
PT J
AU Nudel, R
Simpson, NH
Baird, G
O'Hare, A
Conti-Ramsden, G
Bolton, PF
Hennessy, ER
Ring, SM
Smith, GD
Francks, C
Paracchini, S
Monaco, AP
Fisher, SE
Newbury, DF
AF Nudel, R.
Simpson, N. H.
Baird, G.
O'Hare, A.
Conti-Ramsden, G.
Bolton, P. F.
Hennessy, E. R.
Ring, S. M.
Smith, G. Davey
Francks, C.
Paracchini, S.
Monaco, A. P.
Fisher, S. E.
Newbury, D. F.
CA SLI Consortium
TI Genome- wide association analyses of child genotype effects and parent-
of- origin effects in specific language impairment
SO GENES BRAIN AND BEHAVIOR
LA English
DT Article
DE ALSPAC; GWAS; imprinting; neurodevelopmental disorder; specific language
impairment
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; NUCLEOTIDE EXCHANGE FACTOR;
RHO-GTPASES; COMMUNICATION CHECKLIST; HYPERACTIVITY DISORDER;
DEVELOPMENTAL DYSLEXIA; SUSCEPTIBILITY LOCUS; SUGGESTIVE LINKAGE;
MENTAL-RETARDATION; READING-DISABILITY
AB Specific language impairment (SLI) is a neurodevelopmental disorder that affects linguistic abilities when development is otherwise normal. We report the results of a genome-wide association study of SLI which included parent-of-origin effects and child genotype effects and used 278 families of language-impaired children. The child genotype effects analysis did not identify significant associations. We found genome-wide significant paternal parent-of-origin effects on chromosome 14q12 (P=3.74x10(-8)) and suggestive maternal parent-of-origin effects on chromosome 5p13 (P=1.16x10(-7)). A subsequent targeted association of six single-nucleotide-polymorphisms (SNPs) on chromosome 5 in 313 language-impaired individuals and their mothers from the ALSPAC cohort replicated the maternal effects, albeit in the opposite direction (P=0.001); as fathers' genotypes were not available in the ALSPAC study, the replication analysis did not include paternal parent-of-origin effects. The paternally-associated SNP on chromosome 14 yields a non-synonymous coding change within the NOP9 gene. This gene encodes an RNA-binding protein that has been reported to be significantly dysregulated in individuals with schizophrenia. The region of maternal association on chromosome 5 falls between the PTGER4 and DAB2 genes, in a region previously implicated in autism and ADHD. The top SNP in this association locus is a potential expression QTL of ARHGEF19 (also called WGEF) on chromosome 1. Members of this protein family have been implicated in intellectual disability. In summary, this study implicates parent-of-origin effects in language impairment, and adds an interesting new dimension to the emerging picture of shared genetic etiology across various neurodevelopmental disorders.
C1 [Nudel, R.; Simpson, N. H.; Monaco, A. P.; Newbury, D. F.] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England.
[Baird, G.] Evelina Childrens Hosp, Newcomen Ctr, London, England.
[O'Hare, A.] Univ Edinburgh, Dept Reprod & Dev Sci, Edinburgh, Midlothian, Scotland.
[Conti-Ramsden, G.] Univ Manchester, Sch Psychol Sci, Manchester, Lancs, England.
[Bolton, P. F.] Kings Coll London, Dept Child & Adolescent Psychiat, Inst Psychiat, London WC2R 2LS, England.
[Bolton, P. F.] Kings Coll London, Dept Social Genet, Inst Psychiat, London WC2R 2LS, England.
[Bolton, P. F.] Kings Coll London, Dev Psychiat Ctr, Inst Psychiat, London WC2R 2LS, England.
[Hennessy, E. R.] Univ Aberdeen, Univ Child Hlth, Aberdeen, Scotland.
[Hennessy, E. R.] Univ Aberdeen, DMDE, Aberdeen, Scotland.
[Ring, S. M.; Smith, G. Davey] Univ Bristol, Sch Social & Community Med, Bristol, Avon, England.
[Ring, S. M.; Smith, G. Davey] Univ Bristol, MRC Integrat Epidemiol Unit, Bristol, Avon, England.
[Francks, C.; Fisher, S. E.] Max Planck Inst Psycholinguist, Nijmegen, Netherlands.
[Francks, C.; Fisher, S. E.] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands.
[Paracchini, S.] Univ St Andrews, Sch Med, St Andrews, Fife, Scotland.
[Monaco, A. P.] Tufts Univ, Medford, MA 02155 USA.
RP Newbury, DF (reprint author), Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England.
EM dianne@well.ox.ac.uk
RI Fisher, Simon/E-9130-2012; Monaco, Anthony/A-4495-2010; Davey Smith,
George/A-7407-2013; Bolton, Patrick/E-8501-2010
OI Fisher, Simon/0000-0002-3132-1996; Monaco, Anthony/0000-0001-7480-3197;
Davey Smith, George/0000-0002-1407-8314; Bolton,
Patrick/0000-0002-5270-6262
FU Medical Research Council [G1000569/1, MR/J003719/1, G0800523/86473];
University of Oxford Nuffield Department of Medicine Prize Studentship;
Max Planck Society; Wellcome Trust [060774, 076566, 092731]; National
Institute of Health Research (UK); Biomedical Research Centre in Mental
Health at the South London & Maudsley NHS Trust Hospital, London
FX We would like to thank all the families, professionals and individuals
who participated in this research. In particular, we would like to thank
Simon Fiddy for his assistance with data transformation. Dianne Newbury
is an MRC Career Development Fellow and a Junior Research Fellow at St
John's College, University of Oxford. The work of the Newbury lab is
funded by the Medical Research Council [G1000569/1 and MR/J003719/1].
Ron Nudel is funded by a University of Oxford Nuffield Department of
Medicine Prize Studentship. The genotyping of samples was funded by the
Max Planck Society. Silvia Paracchini is a Royal Society University
Research Fellow. The analyses of the ALSPAC cohort were supported by a
grant from the Medical Research Council [G0800523/86473]. The collection
of the SLIC samples was supported by the Wellcome Trust (060774 and
076566). Patrick Bolton is supported by a National Institute of Health
Research (UK) Senior Investigator award and the Biomedical Research
Centre in Mental Health at the South London & Maudsley NHS Trust
Hospital, London. The work of the Wellcome Trust Centre in Oxford is
supported by the Wellcome Trust [090532/Z/09/Z]. The authors declare no
conflicts of interest.We are extremely grateful to all the families who
took part in this study, the midwives for their help in recruiting them,
and the whole ALSPAC team, which includes interviewers, computer and
laboratory technicians, clerical workers, research scientists,
volunteers, managers, receptionists and nurses. The UK Medical Research
Council and the Wellcome Trust (Grant ref: 092731) and the University of
Bristol provide core support for ALSPAC.
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NR 83
TC 8
Z9 8
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1601-1848
EI 1601-183X
J9 GENES BRAIN BEHAV
JI Genes Brain Behav.
PD APR
PY 2014
VL 13
IS 4
BP 418
EP 429
DI 10.1111/gbb.12127
PG 12
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AE3PD
UT WOS:000333887500007
PM 24571439
ER
PT J
AU Sandhu, KV
Lang, D
Muller, B
Nullmeier, S
Yanagawa, Y
Schwegler, H
Stork, O
AF Sandhu, K. V.
Lang, D.
Mueller, B.
Nullmeier, S.
Yanagawa, Y.
Schwegler, H.
Stork, O.
TI Glutamic acid decarboxylase 67 haplodeficiency impairs social behavior
in mice
SO GENES BRAIN AND BEHAVIOR
LA English
DT Article
DE Aggressive behavior; amygdala; animal model; c-Fos immunohistochemistry;
GABA; GAD67; olfactory bulb; social interaction; social odor
ID ACCESSORY OLFACTORY-BULB; GAMMA-AMINOBUTYRIC-ACID; IN-SITU
HYBRIDIZATION; GENE-EXPRESSION; AGGRESSIVE-BEHAVIOR; ESTROGEN-RECEPTOR;
BIPOLAR DISORDER; MESSENGER-RNA; COMPARATIVE LOCALIZATION; PREFRONTAL
CORTEX
AB Reduced glutamic acid decarboxylase (GAD)67 expression may be causally involved in the development of social withdrawal in neuropsychiatric states such as autism, schizophrenia and bipolar disorder. In this study, we report disturbance of social behavior in male GAD67 haplodeficient mice. GAD67(+/-) mice, compared to GAD67(+/+) littermates, show reduced sociability and decreased intermale aggression, but normal nest building and urine marking behavior, as well as unchanged locomotor activity and anxiety-like behavior. Moreover, the mutants display a reduced sensitivity to both social and non-social odors, indicating a disturbance in the detection and/or processing of socially relevant olfactory stimuli. Indeed, we observed reduced activation of the lateral septum, medial preoptic area, bed nucleus of the stria terminalis, medial and cortical amygdala upon exposure of GAD67(+/-) mice to social interaction paradigm, as indicated by c-Fos immunohistochemistry. These data suggest a disturbance of stimulus processing in the brain circuitry controlling social behavior in GAD67(+/-) mice, which may provide a useful model for studying the impact of a reduced GAD67 expression on alterations of social behavior related to neuropsychiatric disorders.
C1 [Sandhu, K. V.; Lang, D.; Mueller, B.; Stork, O.] Univ Magdeburg, Dept Genet & Mol Neurobiol, Inst Biol, D-39120 Magdeburg, Germany.
[Nullmeier, S.; Schwegler, H.] Univ Magdeburg, Inst Anat, D-39120 Magdeburg, Germany.
[Yanagawa, Y.] Gunma Univ, Dept Genet & Behav Neurosci, Grad Sch Med, Maebashi, Gumma 371, Japan.
[Yanagawa, Y.] CREST, JST, Maebashi, Gumma, Japan.
[Schwegler, H.; Stork, O.] Ctr Behav Brain Sci, Magdeburg, Germany.
RP Stork, O (reprint author), Univ Magdeburg, Dept Genet & Mol Neurobiol, Inst Biol, Leipziger Str 44,Hs91, D-39120 Magdeburg, Germany.
EM oliver.stork@ovgu.de
FU German Research Foundation [SFB779, TPB5]; Federal State of Sachsonia
Anhalt (Center of Behavioral Brain Sciences); MEXT, Japan; NIPS, Japan;
Takeda Science Foundation
FX We are grateful to F. Webers and S. Stork for expert technical
assistance and to A. Deter and T. Nawrath for excellent animal care. The
work was supported by grants of the German Research Foundation (SFB779,
TPB5 to O.S. and H.S.) and the Federal State of Sachsonia Anhalt (Center
of Behavioral Brain Sciences). This work was further supported by
Grants-in-Aid for Scientific Research from the MEXT, Japan, a grant from
the Cooperative Study Program of NIPS, Japan, and Takeda Science
Foundation (to Y.Y.). All the authors declared no conflicts of interest.
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NR 84
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1601-1848
EI 1601-183X
J9 GENES BRAIN BEHAV
JI Genes Brain Behav.
PD APR
PY 2014
VL 13
IS 4
BP 439
EP 450
DI 10.1111/gbb.12131
PG 12
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AE3PD
UT WOS:000333887500009
PM 24612522
ER
PT J
AU Garcia-Cazorla, A
Oyarzabal, A
Fort, J
Robles, C
Castejon, E
Ruiz-Sala, P
Bodoy, S
Merinero, B
Lopez-Sala, A
Dopazo, J
Nunes, V
Ugarte, M
Artuch, R
Palacin, M
Rodriguez-Pombo, P
AF Garcia-Cazorla, Angels
Oyarzabal, Alfonso
Fort, Joana
Robles, Concepcion
Castejon, Esperanza
Ruiz-Sala, Pedro
Bodoy, Susanna
Merinero, Begona
Lopez-Sala, Anna
Dopazo, Joaquin
Nunes, Virginia
Ugarte, Magdalena
Artuch, Rafael
Palacin, Manuel
Rodriguez-Pombo, Pilar
CA Working Grp
TI Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase
Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two
Pediatric Unrelated Patients
SO HUMAN MUTATION
LA English
DT Article
DE BCKDK; neurobehavioral deficit; dietary treatment; branched-chain
keto-acid dehydrogenase complex
ID PROTEIN PHOSPHATASE 2CM; DNA-SEQUENCING DATA; CATABOLISM; RAT;
PHOSPHORYLATION; CELLS; METABOLISM; EXPRESSION; FRAMEWORK; VARIANTS
AB Inactivating mutations in the BCKDK gene, which codes for the kinase responsible for the negative regulation of the branched-chain -keto acid dehydrogenase complex (BCKD), have recently been associated with a form of autism in three families. In this work, two novel exonic BCKDK mutations, c.520C>G/p.R174G and c.1166T>C/p.L389P, were identified at the homozygous state in two unrelated children with persistently reduced body fluid levels of branched-chain amino acids (BCAAs), developmental delay, microcephaly, and neurobehavioral abnormalities. Functional analysis of the mutations confirmed the missense character of the c.1166T>C change and showed a splicing defect r.[520c>g;521_543del]/p.R174Gfs1*, for c.520C>G due to the presence of a new donor splice site. Mutation p.L389P showed total loss of kinase activity. Moreover, patient-derived fibroblasts showed undetectable (p.R174Gfs1*) or barely detectable (p.L389P) levels of BCKDK protein and its phosphorylated substrate (phospho-E1), resulting in increased BCKD activity and the very rapid BCAA catabolism manifested by the patients' clinical phenotype. Based on these results, a protein-rich diet plus oral BCAA supplementation was implemented in the patient homozygous for p.R174Gfs1*. This treatment normalized plasma BCAA levels and improved growth, developmental and behavioral variables. Our results demonstrate that BCKDK mutations can result in neurobehavioral deficits in humans and support the rationale for dietary intervention.
C1 [Garcia-Cazorla, Angels; Lopez-Sala, Anna] CIBER Enfermedades Raras CIBERER, Hosp Sant Joan Deu HSJD, Dept Neurol, Barcelona, Spain.
[Oyarzabal, Alfonso; Ruiz-Sala, Pedro; Merinero, Begona; Ugarte, Magdalena; Rodriguez-Pombo, Pilar; Working Grp] Univ Autonoma Madrid, Dept Biol, Ctr Biol Mol Severo Ochoa CSIC UAM,IDIPAZ, Ctr Diagnost Enfermedades Mol CEDEM,CIBER Enferme, Madrid, Spain.
[Fort, Joana; Bodoy, Susanna; Palacin, Manuel] Univ Barcelona, Inst Res Biomed IRB Barcelona, Dept Biochem & Mol Biol, Fac Biol,CIBER Enfermedades Raras CIBERER, Barcelona, Spain.
[Robles, Concepcion] San Cecilio Hosp, Dept Paediat, Granada, Spain.
[Castejon, Esperanza] Hosp San Juan Dios, Dept Gastroenterol, Barcelona, Spain.
[Dopazo, Joaquin] Ctr Invest Principe Felipe, Computat Genom Dept, Valencia, Spain.
[Dopazo, Joaquin] CIPF, Funct Genom Node, INB, Valencia, Spain.
[Dopazo, Joaquin] CIBER Enfermedades Raras CIBERER, Valencia, Spain.
[Nunes, Virginia] Univ Barcelona, Fac Med, Genet Mol Lab, IDIBELL,Dept Ciencies Fisiol 2,U 730 CIBER Enferm, Barcelona 7, Spain.
[Artuch, Rafael] CIBER Enfermedades Raras CIBERER, Hosp Sant Joan Deu, Dept Biochem, Barcelona, Spain.
Natl Ctr Genom Anal, Barcelona, Spain.
RP Rodriguez-Pombo, P (reprint author), Univ Autonoma Madrid, Ctr Biol Mol Severo Ochoa, C Nicolas Cabrera 1, E-28049 Madrid, Spain.
EM mprodriguez@cbm.csic.es
RI Dopazo, Joaquin/A-9270-2014
OI Dopazo, Joaquin/0000-0003-3318-120X
FU Fundacion Ramon Areces [CIVP16A1853]; Spanish Ministerio de Economia y
Competitividad [PI12/02078, SAF2012-40080-C02-01, SAF2009-12606-C02-02];
Generalitat de Catalunya [SGR2009-1355, SGR2009-1490]; Programa de
intensificacion de la actividad investigadora (FIS); Fundacion Ramon
Areces
FX Contract grant sponsors: Fundacion Ramon Areces (CIVP16A1853); Spanish
Ministerio de Economia y Competitividad (PI12/02078),
(SAF2012-40080-C02-01), (SAF2009-12606-C02-02); Generalitat de Catalunya
(SGR2009-1355), (SGR2009-1490); Programa de intensificacion de la
actividad investigadora (FIS); Fundacion Ramon Areces.
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NR 38
TC 4
Z9 4
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1059-7794
EI 1098-1004
J9 HUM MUTAT
JI Hum. Mutat.
PD APR
PY 2014
VL 35
IS 4
BP 470
EP 477
DI 10.1002/humu.22513
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA AC8UG
UT WOS:000332810000009
PM 24449431
ER
PT J
AU Julich, K
Sahin, M
AF Juelich, Kristina
Sahin, Mustafa
TI Mechanism-Based Treatment in Tuberous Sclerosis Complex
SO PEDIATRIC NEUROLOGY
LA English
DT Review
DE tuberous sclerosis complex; rapamycin; neuronal connectivity; mTOR
ID AUTISTIC-LIKE BEHAVIOR; WHITE-MATTER; MOUSE MODEL; SYNAPTIC PLASTICITY;
AXON GUIDANCE; MAMMALIAN TARGET; CORTICAL TUBERS; RAPAMYCIN; MTOR;
DIFFUSION
AB BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that affects the brain in almost every patient. It is caused by a mutation in the TSC1 or TSC2 genes, which regulate mammalian target of rapamycin (mTOR), a key player in control of cellular growth and protein synthesis. The most frequent neurological symptoms are seizures, which occur in up to 90% of patients and often are intractable, followed by autism spectrum disorders, intellectual disability, attention deficit-hyperactivity disorder, and sleep problems. Conventional treatment has frequently proven insufficient for neurological and behavioral symptoms, particularly seizure control. This review focuses on the role of TSC/mTOR in neuronal development and network formation and recent mechanism-based treatment approaches. METHODS: We performed a literature review to identify ongoing therapeutic challenges and novel strategies. RESULTS: To achieve a better quality of life for many patients, current therapy approaches are directed at restoring dysregulated mTOR signaling. Studies in animals have provided insight into aberrant neuronal network formation caused by constitutive activation of the mTOR pathway, and initial studies in TSC patients using magnetic resonance diffusion tensor imaging and electroencephalogram support a model of impaired neuronal connectivity in TSC. Rapamycin, an mTOR inhibitor, has been used successfully in Tsc-deficient mice to prevent and treat seizures and behavioral abnormalities. There is recent evidence in humans of improved seizure control with mTOR inhibitors. CONCLUSIONS: Current research provides insight into aberrant neuronal connectivity in TSC and the role of mTOR inhibitors as a promising therapeutic approach.
C1 [Juelich, Kristina; Sahin, Mustafa] Harvard Univ, Sch Med, Boston Childrens Hosp, FM Kirby Ctr Neurobiol,Dept Neurol, Boston, MA USA.
RP Sahin, M (reprint author), Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave,CLS13074, Boston, MA 02115 USA.
EM mustafa.sahin@childrens.harvard.edu
FU NIH [U01 NS082320, P20 NS080199, P30 HD018655]; Department of Defense;
Tuberous Sclerosis Alliance; Autism Speaks; Nancy Lurie Marks Family
Foundation; Boston Children's Hospital Translational Research Program;
Novartis; Roche; Shire
FX The authors first acknowledge the generous and essential contributions
of the children and families who participated in the studies reviewed
here. We also thank all members of the TSC community for many helpful
discussions. Due to limited space we have not quoted all literature in
the field, and we apologize to those whose articles are not referenced.
Research in the Sahin's laboratory is funded by the NIH (U01 NS082320,
P20 NS080199, P30 HD018655), Department of Defense, Tuberous Sclerosis
Alliance, Autism Speaks, Nancy Lurie Marks Family Foundation, Boston
Children's Hospital Translational Research Program, Novartis, Roche and
Shire.
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NR 77
TC 2
Z9 2
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0887-8994
EI 1873-5150
J9 PEDIATR NEUROL
JI Pediatr. Neurol.
PD APR
PY 2014
VL 50
IS 4
BP 290
EP 296
DI 10.1016/j.pediatrneurol.2013.12.002
PG 7
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AE3GY
UT WOS:000333866200004
PM 24486221
ER
PT J
AU Berry-Kravis, E
AF Berry-Kravis, Elizabeth
TI Mechanism-Based Treatments in Neurodevelopmental Disorders: Fragile X
Syndrome
SO PEDIATRIC NEUROLOGY
LA English
DT Review
DE fragile X syndrome; autism; FMRP; metobotropic glutamate receptors; GABA
agonists; signal transduction; dendritic translation; synaptic
plasticity
ID MENTAL-RETARDATION; OPEN-LABEL; SYNAPTIC PLASTICITY; TREATMENT TRIAL;
KNOCKOUT MICE; MOUSE MODEL; FMR1 GENE; MINOCYCLINE; CHILDREN; PREVALENCE
AB BACKGROUND: Fragile X syndrome (FXS) is the most common identifiable genetic cause of intellectual disability and autistic spectrum disorders. Recent major advances have been made in the understanding of the neurobiology and functions of fragile X mental retardation protein, the FMR1 gene product, which is absent or reduced in FXS, largely based on work in the fmr1 knockout mouse model. FXS has emerged as a disorder of synaptic plasticity associated with abnormalities of long-term depression and long-term potentiation and immature dendritic spine architecture, related to dysregulation of dendritic translation typically activated by group I mGluR and other receptors. This work has led to efforts to develop treatments for FXS with neuroactive molecules targeted to pathways dysregulated in the absence of fragile X mental retardation protein. CONCLUSION: These agents have been shown to rescue molecular, spine, and behavioral phenotypes in the FXS mouse model, and clinical trials are underway to translate findings in animal models of FXS to humans, raising complex issues about trial design and outcome measures to assess disease-modifying changes that might be associated with treatment. Genes known to be causes of autistic spectrum disorders interact with the translational pathway defective in FXS and it is likely that there will be substantial overlap in molecular pathways and mechanisms of synaptic dysfunction. Thus targeted treatment and clinical trial strategies in FXS may serve as a model for ASD and other cognitive disorders.
C1 [Berry-Kravis, Elizabeth] Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USA.
[Berry-Kravis, Elizabeth] Rush Univ, Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA.
[Berry-Kravis, Elizabeth] Rush Univ, Med Ctr, Dept Biochem, Chicago, IL 60612 USA.
RP Berry-Kravis, E (reprint author), Rush Univ, Med Ctr, 1725 West Harrison St,Suite 718, Chicago, IL 60612 USA.
EM Elizabeth_m_berry-kravis@rush.edu
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NR 37
TC 9
Z9 10
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0887-8994
EI 1873-5150
J9 PEDIATR NEUROL
JI Pediatr. Neurol.
PD APR
PY 2014
VL 50
IS 4
BP 297
EP 302
DI 10.1016/j.pediatrneurol.2013.12.001
PG 6
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AE3GY
UT WOS:000333866200005
PM 24518745
ER
PT J
AU Baines, C
AF Baines, Chris
TI CBT for Children and Adolescents with High-Functioning Autism Spectrum
Disorders
SO PSYCHOLOGIST
LA English
DT Book Review
CR SCARPA A, CBT CHILDREN ADOLESC
NR 1
TC 0
Z9 0
PU BRITISH PSYCHOLOGICAL SOC
PI LEICESTER
PA ST ANDREWS HOUSE, 48 PRINCESS RD EAST, LEICESTER LE1 7DR, LEICS, ENGLAND
SN 0952-8229
J9 PSYCHOLOGIST
JI Psychologist
PD APR
PY 2014
VL 27
IS 4
BP 82
EP 82
PG 1
WC Psychology, Multidisciplinary
SC Psychology
GA AE3GB
UT WOS:000333863900037
ER
PT J
AU Peters, S
Slattery, DA
Uschold-Schmidt, N
Reber, SO
Neumann, ID
AF Peters, Sebastian
Slattery, David A.
Uschold-Schmidt, Nicole
Reber, Stefan O.
Neumann, Inga D.
TI Dose-dependent effects of chronic central infusion of oxytocin on
anxiety, oxytocin receptor binding and stress-related parameters in mice
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE Oxytocin; Receptor binding; Chronic subordinate colony housing; Anxiety
ID CHRONIC PSYCHOSOCIAL STRESS; PITUITARY-ADRENAL AXIS; BEHAVIORAL
CONSEQUENCES; PARAVENTRICULAR NUCLEUS; CENTRAL AMYGDALA; INDUCED
COLITIS; BRAIN OXYTOCIN; DEFICIENT MICE; SOCIAL DEFEAT; MALE RATS
AB Chronic psychosocial stress is a recognized risk factor for various affective and somatic disorders. In an established murine model of chronic psychosocial stress, exposure to chronic subordinate colony housing (CSC) results in an alteration of physiological, behavioral, neuroendocrine and immunological parameters, including a long-lasting increase in anxiety, adrenal hypertrophy and thymus atrophy. Based on the stress-protective and anxiolytic properties of oxytocin (OXT) after acute administration in rodents and humans, the major aims of our study were to assess whether chronic administration of OXT dose-dependently affects the behavior and physiology of male mice, as for therapeutic use in humans, mostly chronic treatment approaches will be used. Further, we studied, whether chronic administration during CSC prevents stress-induced consequences. Our results indicate that chronic intracerebroventricular (ICV) infusion of OXT (15 days) at high (10 ng/h), but not at low (1 ng/h) dose, induces an anxiogenic phenotype with a concomitant reduction of OXT receptor (OXTR) binding within the septum, the basolateral and medial amygdala, as well as the median raphe nucleus. Further, we demonstrate that chronic ICV infusion of OXT (1 ng/h) during a 19-day CSC exposure prevents the hyper-anxiety, thymus atrophy, adrenal hypertrophy, and decreased in vitro adrenal ACTH sensitivity. Thus, given both negative, but also beneficial effects seen after chronic OXT treatment, which appear to be dose-dependent, a deeper understanding of long-lasting treatment effects is required before OXT can be considered for long-term therapeutic use for the treatment of psychopathologies such as autism, schizophrenia or anxiety-disorders. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Peters, Sebastian; Slattery, David A.; Uschold-Schmidt, Nicole; Reber, Stefan O.; Neumann, Inga D.] Univ Regensburg, Dept Behav & Mol Neurobiol, D-93053 Regensburg, Germany.
RP Neumann, ID (reprint author), Univ Regensburg, Dept Behav & Mol Neurobiol, D-93053 Regensburg, Germany.
EM inga.neumann@biologie.uni-regensburg.de
FU Deutsche Forschungsgemeinschaft; Elitenetwork of Bavaria
FX This work was supported by research grants from the Deutsche
Forschungsgemeinschaft to IDN, SOR and DAS, and by the Elitenetwork of
Bavaria.
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NR 66
TC 6
Z9 6
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0306-4530
J9 PSYCHONEUROENDOCRINO
JI Psychoneuroendocrinology
PD APR
PY 2014
VL 42
BP 225
EP 236
DI 10.1016/j.psyneuen.2014.01.021
PG 12
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AE5AM
UT WOS:000334000200024
PM 24636519
ER
PT J
AU Martinez, F
Rosello, M
Mayo, S
Monfort, S
Oltra, S
Orellana, C
AF Martinez, Francisco
Rosello, Monica
Mayo, Sonia
Monfort, Sandra
Oltra, Silvestre
Orellana, Carmen
TI Duplication at Xq13.3-q21.1 With Syndromic Intellectual Disability, a
Probable Role for the ATRX Gene
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE XLID; autism; hyperactivity; MECP2; array CGH
ID SEVERE MENTAL-RETARDATION; COPY NUMBER VARIANTS; CRITICAL REGION; X
SYNDROME; MUTATIONS; MECP2; REARRANGEMENTS; INACTIVATION; ANOMALIES;
DELETION
AB Here we report on two unrelated male patients with syndromic intellectual disability (ID) due to duplication at Xq13.3-q21.1, a region of about 6Mb and 25 genes. Among these, the most outstanding is ATRX, the causative gene of X-linked alpha-thalassemia/mental retardation. ATRX belongs to the growing list of genes implied in chromatin remodeling causing ID. Many these genes, such as MECP2, are dose-sensitive so that not only deletions and point mutations, but also duplications cause ID. Both patients have severe ID, absent expressive speech, early hypotonia, behavior problems (hyperactivity, repetitive self-stimulatory behavior), postnatal growth deficiency, microcephaly, micrognathia, cryptorchidism, low-set, posteriorly angulated ears, and downslanting palpebral fissures. These findings are also usually present among patients with loss-of-function mutations of the ATRX gene. Completely skewed X inactivation was observed in the only informative carrier mother, a constant finding among female carriers of inactivating point mutations of this gene. Participation of other duplicated genes cannot be excluded; nevertheless we propose that the increased dosage of ATRX is the major pathogenic mechanism of this X-linked disorder, a syndrome reminiscent of MECP2 duplication. (c) 2014 Wiley Periodicals, Inc.
C1 [Martinez, Francisco; Rosello, Monica; Mayo, Sonia; Monfort, Sandra; Oltra, Silvestre; Orellana, Carmen] Hosp Univ & Politecn La Fe, Unidad Genet & Diagnost Prenatal, Valencia 46009, Spain.
RP Martinez, F (reprint author), Hosp Univ & Politecn La Fe, Unidad Genet & Diagnost Prenatal, Valencia 46009, Spain.
EM francisco@gva.es
RI Oltra, Silvestre/A-2697-2009; Martinez, Francisco/A-2543-2009; Rosello,
Monica/B-2319-2009; Monfort, Sandra/B-2860-2009; Orellana,
Carmen/B-1925-2009
OI Oltra, Silvestre/0000-0001-6863-4382; Martinez,
Francisco/0000-0002-0589-2584; Rosello, Monica/0000-0001-9234-2953;
Orellana, Carmen/0000-0003-4271-5859
FU Plan Nacional I+D+I (ISCIII -Subdireccion General de Evaluacion y
Fomento de la Investigacion) [PI11/00389]; FEDER (Fondo Europeo de
Desarrollo Regional, EU); Fundacion Ramon Areces
FX Grant sponsor: Plan Nacional I+D+I 2008-2011 (ISCIII -Subdireccion
General de Evaluacion y Fomento de la Investigacion); Grant number:
PI11/00389; Grant sponsor: FEDER (Fondo Europeo de Desarrollo Regional,
EU); Grant sponsor: Fundacion Ramon Areces.
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NR 23
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD APR
PY 2014
VL 164
IS 4
BP 918
EP 923
DI 10.1002/ajmg.a.36371
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA AD4CL
UT WOS:000333193800033
PM 24458433
ER
PT J
AU Alfieri, P
Piccini, G
Caciolo, C
Perrino, F
Gambardella, ML
Mallardi, M
Cesarini, L
Leoni, C
Leone, D
Fossati, C
Selicorni, A
Digilio, MC
Tartaglia, M
Mercuri, E
Zampino, G
Vicari, S
AF Alfieri, Paolo
Piccini, Giorgia
Caciolo, Cristina
Perrino, Francesca
Gambardella, Maria Luigia
Mallardi, Maria
Cesarini, Laura
Leoni, Chiara
Leone, Daniela
Fossati, Chiara
Selicorni, Angelo
Digilio, Maria Cristina
Tartaglia, Marco
Mercuri, Eugenio
Zampino, Giuseppe
Vicari, Stefano
TI Behavioral Profile in RASopathies
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE behavior; Noonan syndrome; Noonan-like syndrome with loose anagen hair;
LEOPARD syndrome; Costello syndrome; cardiofaciocutaneous syndrome; RAS;
MAPK cascade; genotype-phenotype correlation analyses
ID SOCIAL COMMUNICATION QUESTIONNAIRE; AUTISM SPECTRUM DISORDERS;
COSTELLO-SYNDROME; NOONAN-SYNDROME; INTELLECTUAL DISABILITY; SYNAPTIC
PLASTICITY; CHILDREN; FEATURES; CASCADE; MAPK
AB Here, we describe neurobehavioral features in patients with RASopathies (i.e., Noonan syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous syndrome), developmental disorders caused by mutations in genes coding transducers participating in the RAS-MAPK signaling cascade. Parents of 70 individuals with a RASopathy were asked to fill out the following questionnaires: Child Behavior Checklist (CBCL), Social Communication Questionnaire version lifetime (SCQ-L), and Modified Checklist for Autism in toddlers (M-CHAT). Data analysis indicated high rates of internalizing (37%) and externalizing problems (31%) on CBCL. Scores over the cut-off were documented in 64% of patients with cardiofaciocutaneous syndrome, 44% with Costello syndrome, and 12% with Noonan syndrome on SCQ-L/M-CHAT. Our findings indicate that mutations promoting dysregulation of the RAS-MAPK cascade mark an increased psychopathological risk and highlight that autistic-like behavior could be underdiagnosed in patients with RASopathies. (c) 2014 Wiley Periodicals, Inc.
C1 [Alfieri, Paolo; Piccini, Giorgia; Caciolo, Cristina; Vicari, Stefano] IRCCS, Dipartimento Neurosci, Bambino Gesu Childrens Hosp, Rome, Italy.
[Piccini, Giorgia] LUMSA Libera Univ Maria SS Assunta, Rome, Italy.
[Perrino, Francesca; Leoni, Chiara; Zampino, Giuseppe] Univ Cattolica Sacro Cuore, Dipartimento Tutela Salute Donna Vita Nascente Ba, I-00168 Rome, Italy.
[Gambardella, Maria Luigia; Mallardi, Maria; Cesarini, Laura; Leone, Daniela; Mercuri, Eugenio] Univ Cattolica Sacro Cuore, Dipartimento Pediat Neurol & Psichiatria Infantil, I-00168 Rome, Italy.
[Fossati, Chiara; Selicorni, Angelo] AO San Gerardo, Fdn MBBM, Monza, Italy.
[Digilio, Maria Cristina] IRCCS, Dipartimento Genet Med, Bambino Gesu Childrens Hosp, Rome, Italy.
[Tartaglia, Marco] Ist Super Sanita, Dipartimento Ematol Oncol & Med Mol, I-00161 Rome, Italy.
RP Alfieri, P (reprint author), IRCCS, Dipartimento Neurosci, Bambino Gesu Childrens Hosp, Rome, Italy.
EM paolo.alfieri@opbg.net
FU Telethon-Italy [GGP13107]; Associazione Italiana Sindromi di Costello e
Cardiofaciocutanea
FX We are grateful to the patient and his family who contributed to this
study. This work was, in part, supported by grants from Telethon-Italy
[GGP13107] and "Associazione Italiana Sindromi di Costello e
Cardiofaciocutanea".
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NR 50
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD APR
PY 2014
VL 164
IS 4
BP 934
EP 942
DI 10.1002/ajmg.a.36374
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA AD4CL
UT WOS:000333193800035
PM 24458522
ER
PT J
AU Yu, HC
Geiger, EA
Medne, L
Zackai, EH
Shaikh, TH
AF Yu, Hung-Chun
Geiger, Elizabeth A.
Medne, Livija
Zackai, Elaine H.
Shaikh, Tamim H.
TI An Individual With Blepharophimosis- PtosisEpicanthus Inversus Syndrome
( BPES) and Additional Features Expands the Phenotype Associated With
Mutations in KAT6B
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE blepharophimosis; ptosis; epicanthus inversus; BPES; KAT6B; whole exome
sequencing
ID DE-NOVO MUTATIONS; HISTONE ACETYLTRANSFERASE KAT6B; CAUSE GENITOPATELLAR
SYNDROME; AUTISM SPECTRUM DISORDERS; OHDO SYNDROME; MENTAL-RETARDATION;
KABUKI SYNDROME; NOONAN SYNDROME; FOXL2; PTOSIS
AB Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder caused by mutations in FOXL2. We identified an individual with BPES and additional phenotypic features who did not have a FOXL2 mutation. We used whole exome sequencing to identify a de novo mutation in KAT6B (lysine acetyltransferase 6B) in this individual. The mutation was a 2-bp insertion leading to a frameshift which resulted in a premature stop codon. The resulting truncated protein does not have the C-terminal serine/methionine transcription activation domain necessary for interaction with other transcriptional and epigenetic regulators. This mutation likely has a dominant-negative or gain-of-function effect, similar to those observed in other genetic disorders resulting from KAT6B mutations, including Say-Barber-Biesecker-Young-Simpson (SBBYSS) and genitopatellar syndrome (GTPTS). Thus, our subject's phenotype broadens the spectrum of clinical findings associated with mutations in KAT6B. Furthermore, our results suggest that individuals with BPES without a FOXL2 mutation should be tested for KAT6B mutations. The transcriptional and epigenetic regulation mediated by KAT6B appears crucial to early developmental processes, which when perturbed can lead to a wide spectrum of phenotypic outcomes. (c) 2014 Wiley Periodicals, Inc.
C1 [Yu, Hung-Chun; Geiger, Elizabeth A.; Shaikh, Tamim H.] Univ Colorado, Sch Med, Dept Pediat, Aurora, CO 80045 USA.
[Medne, Livija; Zackai, Elaine H.] Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA.
[Shaikh, Tamim H.] Univ Colorado, Sch Med, Genet Sect, Aurora, CO 80045 USA.
[Shaikh, Tamim H.] Univ Colorado, Sch Med, Colorado Intellectual & Dev Disabil Res Ctr IDDRC, Aurora, CO 80045 USA.
RP Shaikh, TH (reprint author), Univ Colorado, Sch Med, Dept Pediat, 12800 E 19th Ave,Room P18-3104, Aurora, CO 80045 USA.
EM tamim.shaikh@ucdenver.edu
FU National Institutes of Health [GM081519]
FX Grant sponsor: National Institutes of Health; Grant number: GM081519.
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NR 45
TC 5
Z9 5
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD APR
PY 2014
VL 164
IS 4
BP 950
EP 957
DI 10.1002/ajmg.a.36379
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA AD4CL
UT WOS:000333193800037
PM 24458743
ER
PT J
AU Amarillo, IE
Li, WL
Li, XM
Vilain, E
Kantarci, S
AF Amarillo, Ina E.
Li, Wenhui Laura
Li, Xinmin
Vilain, Eric
Kantarci, Sibel
TI De Novo Single Exon Deletion of AUTS2 in a Patient with Speech and
Language Disorder: A Review of Disrupted AUTS2 and Further Evidence for
Its Role in Neurodevelopmental Disorders
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE AUTS2; autism susceptibility candidate 2; 7q11; 22; neurodevelopmental
disorders
ID AUTISM-SUSCEPTIBILITY-CANDIDATE-2 AUTS2; TRANSLOCATION BREAKPOINT;
DEVELOPMENTAL DELAY; SPECTRUM DISORDERS; HUMAN GENOME; GENE; AUTISM;
CONTACTIN-ASSOCIATED-PROTEIN-LIKE-2; IDENTIFICATION
AB The autism susceptibility candidate 2 (AUTS2) gene is suggested to play a critical role in early brain development, and its association with intellectual disability (ID), autism spectrum disorders, and other neurodevelopmental disorders (NDDs) has recently gained more attention. Genomic rearrangements and copy number variations (CNVs) involving AUTS2 have been implicated in a range of NDDs with or without congenital malformations and dysmorphic features. Here we report a 62kb de novo deletion encompassing exon 6 of AUTS2 detected by chromosomal microarray analysis (CMA) in a 4.5 year-old female patient with severe speech and language disorder, history of tonic-clonic movements, and pes planus with eversion of the feet. This is one of the smallest de novo intragenic deletions of AUTS2 described in patients with NDDs. We reviewed previously reported small pathogenic CNVs (<300kb) in 19 cases, and correlated their specific locations within AUTS2 as well as presence of enhancers, regulatory elements, and CpG islands with the clinical findings of these cases and our patient. Our report provides additional insight into the clinical spectrum of AUTS2 disruptions. (c) 2014 Wiley Periodicals, Inc.
C1 [Amarillo, Ina E.; Li, Wenhui Laura; Li, Xinmin; Kantarci, Sibel] Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol, Los Angeles, CA 90024 USA.
[Amarillo, Ina E.; Li, Wenhui Laura; Li, Xinmin; Kantarci, Sibel] Univ Calif Los Angeles, David Geffen Sch Med, Dept Lab Med, Los Angeles, CA 90024 USA.
[Vilain, Eric] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet & Pediat, Los Angeles, CA 90024 USA.
RP Kantarci, S (reprint author), Univ Calif Los Angeles, Clin & Mol Cytogenet Lab, Los Angeles, CA 90024 USA.
EM skantarci@mednet.ucla.edu
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NR 25
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD APR
PY 2014
VL 164
IS 4
BP 958
EP 965
DI 10.1002/ajmg.a.36393
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA AD4CL
UT WOS:000333193800038
PM 24459036
ER
PT J
AU Tan, WH
Bird, LM
Thibert, RL
Williams, CA
AF Tan, Wen-Hann
Bird, Lynne M.
Thibert, Ronald L.
Williams, Charles A.
TI If Not Angelman, What Is It? A Review of Angelman- like Syndromes
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE Angelman syndrome; differential diagnoses; Phelan-McDermid syndrome;
MBD5 deficiency; KANSL1 deficiency; Pitt-Hopkins syndrome; Christianson
syndrome; Mowat-Wilson syndrome; Kleefstra syndrome; HERC2 deficiency;
Adenylosuccinase lyase deficiency; ADSL deficiency; Rett syndrome; CDKL5
syndrome; FOXG1 syndrome; MECP2 duplication; MEF2C syndrome; ATRX
ID PITT-HOPKINS-SYNDROME; ADENYLOSUCCINATE LYASE DEFICIENCY; SEVERE
MENTAL-RETARDATION; MOWAT-WILSON-SYNDROME; 17Q21.31 MICRODELETION
SYNDROME; MECP2 DUPLICATION SYNDROME; AUTISM SPECTRUM DISORDER; 22Q13
DELETION SYNDROME; OF-THE-LITERATURE; BEHAVIORAL-PHENOTYPE
AB Angelman syndrome (AS) is caused by a lack of expression of the maternally inherited UBE3A gene in the brain. However, about 10% of individuals with a clinical diagnosis of AS do not have an identifiable molecular defect. It is likely that most of those individuals have an AS-like syndrome that is clinically and molecularly distinct from AS. These AS-like syndromes can be broadly classified into chromosomal microdeletion and microduplication syndromes, and single-gene disorders. The microdeletion/microduplication syndromes are now easily identified by chromosomal microarray analysis and include Phelan-McDermid syndrome (chromosome 22q13.3 deletion), MBD5 haploinsufficiency syndrome (chromosome 2q23.1 deletion), and KANSL1 haploinsufficiency syndrome (chromosome 17q21.31 deletion). The single-gene disorders include Pitt-Hopkins syndrome (TCF4), Christianson syndrome (SLC9A6), Mowat-Wilson syndrome (ZEB2), Kleefstra syndrome (EHMT1), and Rett (MECP2) syndrome. They also include disorders due to mutations in HERC2, adenylosuccinase lyase (ADSL), CDKL5, FOXG1, MECP2 (duplications), MEF2C, and ATRX. Although many of these single-gene disorders can be caused by chromosomal microdeletions resulting in haploinsufficiency of the critical gene, the individual disorders are often caused by intragenic mutations that cannot be detected by chromosomal microarray analysis. We provide an overview of the clinical features of these syndromes, comparing and contrasting them with AS, in the hope that it will help guide clinicians in the diagnostic work-up of individuals with AS-like syndromes. (c) 2014 Wiley Periodicals, Inc.
C1 [Tan, Wen-Hann; Bird, Lynne M.] NIH, Rare Dis Clin Res Network, Angelman Rett & Prader Willi Syndromes Consortium, Birmingham, AL USA.
[Tan, Wen-Hann] Childrens Hosp, Div Genet, Boston, MA 02115 USA.
[Tan, Wen-Hann; Thibert, Ronald L.] Harvard Univ, Sch Med, Boston, MA USA.
[Bird, Lynne M.] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA.
[Bird, Lynne M.] Rady Childrens Hosp San Diego, Div Genet Dysmorphol, San Diego, CA USA.
[Thibert, Ronald L.] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA.
[Williams, Charles A.] Univ Florida, Coll Med, Raymond C Philips Unit, Div Genet & Metab, Gainesville, FL 32610 USA.
RP Williams, CA (reprint author), Univ Florida, Coll Med, Raymond C Philips Unit, Div Genet & Metab, 1600 SW Archer Rd,M-351,POB 100296, Gainesville, FL 32610 USA.
EM willicx@peds.ufl.edu
FU National Center for Research Resources (NCRR) [NIH U54 RR019478];
National Institute of Child Health and Human Development [NIH U54
HD061222]; NIH Office of Rare Diseases Research (ORDR); Angelman
Syndrome Foundation - Western Area Chapter; Food and Drug Administration
(FDA) Office of Orphan Products Development [R01 FD003523-01A2]
FX Grant sponsor: National Center for Research Resources (NCRR); Grant
number: NIH U54 RR019478; Grant sponsor: National Institute of Child
Health and Human Development; Grant number: NIH U54 HD061222; Grant
sponsor: NIH Office of Rare Diseases Research (ORDR); Grant sponsor:
Angelman Syndrome Foundation - Western Area Chapter; Grant sponsor: Food
and Drug Administration (FDA) Office of Orphan Products Development;
Grant number: R01 FD003523-01A2.
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NR 90
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD APR
PY 2014
VL 164
IS 4
BP 975
EP 992
DI 10.1002/ajmg.a.36416
PG 18
WC Genetics & Heredity
SC Genetics & Heredity
GA AD4CL
UT WOS:000333193800040
PM 24779060
ER
PT J
AU Schwoerer, JS
Laffin, J
Haun, J
Raca, G
Friez, MJ
Giampietro, PF
AF Schwoerer, Jessica Scott
Laffin, Jennifer
Haun, Joanne
Raca, Gordana
Friez, Michael J.
Giampietro, Philip F.
TI MECP2 Duplication: Possible Cause of Severe Phenotype in Females
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE MECP2; MECP2 duplication syndrome; neurodevelopmental disorder;
chromosome X
ID SEVERE MENTAL-RETARDATION; 4 UNRELATED PATIENTS; RETT-SYNDROME;
FUNCTIONAL DISOMY; XQ28 DUPLICATIONS; COPY-NUMBER; GENE; REGION;
INACTIVATION; SYMPTOMS
AB MECP2 duplication syndrome, originally described in 2005, is an X-linked neurodevelopmental disorder comprising infantile hypotonia, severe to profound intellectual disability, autism or autistic-like features, spasticity, along with a variety of additional features that are not always clinically apparent. The syndrome is due to a duplication (or triplication) of the gene methyl CpG binding protein 2 (MECP2). To date, the disorder has been described almost exclusively in males. Female carriers of the duplication are thought to have no or mild phenotypic features. Recently, a phenotype for females began emerging. We describe a family with approximate to 290kb duplication of Xq28 region that includes the MECP2 gene where the proposita and affected family members are female. Twin sisters, presumed identical, presented early with developmental delay, and seizures. Evaluation of the proposita at 25 years of age included microarray comparative genomic hybridization (aCGH) which revealed the MECP2 gene duplication. The same duplication was found in the proposita's sister, who is more severely affected, and the proband's mother who has mild intellectual disability and depression. X-chromosome inactivation studies showed significant skewing in the mother, but was uninformative in the twin sisters. We propose that the MECP2 duplication caused for the phenotype of the proband and her sister. These findings support evidence for varied severity in some females with MECP2 duplications. (c) 2014 Wiley Periodicals, Inc.
C1 [Schwoerer, Jessica Scott; Giampietro, Philip F.] Univ Wisconsin, Dept Pediat, Madison, WI USA.
[Laffin, Jennifer; Raca, Gordana] Univ Wisconsin, Wisconsin State Lab Hyg, UW Cytogenet Serv, Madison, WI 53706 USA.
[Haun, Joanne] Univ Wisconsin, Waisman Ctr, Dept Genet, Madison, WI 53705 USA.
[Raca, Gordana] Univ Chicago, Dept Med, Chicago, IL 60637 USA.
[Friez, Michael J.] Greenwood Genet Ctr, Greenwood, SC 29646 USA.
RP Schwoerer, JS (reprint author), 1500 Highland Ave,Rm 341, Madison, WI 53705 USA.
EM jscottschwoerer@pediatrics.wisc.edu
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NR 21
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD APR
PY 2014
VL 164
IS 4
BP 1029
EP 1034
DI 10.1002/ajmg.a.36380
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA AD4CL
UT WOS:000333193800047
ER
PT J
AU Schieve, LA
Tian, LH
Baio, J
Rankin, K
Rosenberg, D
Wiggins, L
Maenner, MJ
Yeargin-Allsopp, M
Durkin, M
Rice, C
King, L
Kirby, RS
Wingate, MS
Devine, O
AF Schieve, Laura A.
Tian, Lin H.
Baio, Jon
Rankin, Kristin
Rosenberg, Deborah
Wiggins, Lisa
Maenner, Matthew J.
Yeargin-Allsopp, Marshalyn
Durkin, Maureen
Rice, Catherine
King, Lydia
Kirby, Russell S.
Wingate, Martha S.
Devine, Owen
TI Population attributable fractions for three perinatal risk factors for
autism spectrum disorders, 2002 and 2008 autism and developmental
disabilities monitoring network
SO ANNALS OF EPIDEMIOLOGY
LA English
DT Article
DE Autism; Birth weight; Cesarean section; Population; Premature birth;
Risk factors
ID PREVALENCE; CHILDREN; ADULTS
AB Purpose: Numerous studies establish associations between adverse perinatal outcomes/complications and autism spectrum disorder (ASD). There has been little assessment of population attributable fractions (PAFs).
Methods: We estimated average ASD PAFs for preterm birth (PTB), small for gestational age (SGA), and Cesarean delivery (CD) in a U.S. population. Average PAF methodology accounts for risk factor co-occurrence. ASD cases were singleton non-Hispanic white, non-Hispanic black, and Hispanic children born in 1994 (n = 703) or 2000 (n = 1339) who resided in 48 U.S. counties included within eight Autism and Developmental Disabilities Monitoring Network sites. Cases were matched on birth year, sex, and maternal county of residence, race-ethnicity, age, and education to 20 controls from U.S. natality files.
Results: For the 1994 cohort, average PAFs were 4.2%, 0.9%, and 7.9% for PTB, SGA, and CD, respectively. The summary PAF was 13.0% (1.7%-19.5%). For the 2000 cohort, average PAFs were 2.0%, 3.1%, and 6.7% for PTB, SGA, and CD, respectively, with a summary PAF of 11.8% (7.5%-15.9%).
Conclusions: Three perinatal risk factors notably contribute to ASD risk in a U.S. population. Because each factor represents multiple etiologic pathways, PAF estimates are best interpreted as the proportion of ASD attributable to having a suboptimal perinatal environment resulting in PTB, SGA, and/or CD. Published by Elsevier Inc.
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RP Schieve, LA (reprint author), Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, MS E-86,1600 Clifton Rd, Atlanta, GA 30333 USA.
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PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
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SN 0294-3506
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J9 BIOFUTUR
JI Biofutur
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PY 2014
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BP 7
EP 7
PG 1
WC Biotechnology & Applied Microbiology
SC Biotechnology & Applied Microbiology
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UT WOS:000333863800005
ER
PT J
AU Gillespie, SM
McCleery, JP
Oberman, LM
AF Gillespie, Steven M.
McCleery, Joseph P.
Oberman, Lindsay M.
TI Spontaneous versus deliberate vicarious representations: different
routes to empathy in psychopathy and autism
SO BRAIN
LA English
DT Letter
ID FACIAL AFFECT RECOGNITION; FEARFUL EXPRESSIONS; SPECTRUM DISORDERS;
CHILDREN; DEFICITS; CHILDHOOD; OFFENDERS; VOLUNTARY; AMYGDALA; EMOTION
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TC 2
Z9 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0006-8950
EI 1460-2156
J9 BRAIN
JI Brain
PD APR
PY 2014
VL 137
AR e272
DI 10.1093/brain/awt364
PN 4
PG 3
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AD4ZM
UT WOS:000333260900008
PM 24477432
ER
PT J
AU Keysers, C
Meffert, H
Gazzola, V
AF Keysers, Christian
Meffert, Harma
Gazzola, Valeria
TI Reply: Spontaneous versus deliberate vicarious representations:
different routes to empathy in psychopathy and autism
SO BRAIN
LA English
DT Letter
ID NEURAL RESPONSES; RECOGNITION; OTHERS; PAIN; EXPERIENCE; DISGUST;
CORTEX; COMMON; BRAIN; MOTOR
C1 [Keysers, Christian; Gazzola, Valeria] Netherlands Inst Neurosci, KNAW, Social Brain Lab, NL-1105 BA Amsterdam, Netherlands.
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RP Keysers, C (reprint author), Netherlands Inst Neurosci, Meibergdreef 47, NL-1105 BA Amsterdam, Netherlands.
EM C.keysers@nin.knaw.nl
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NR 30
TC 3
Z9 3
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0006-8950
EI 1460-2156
J9 BRAIN
JI Brain
PD APR
PY 2014
VL 137
AR e273
DI 10.1093/brain/awt376
PN 4
PG 4
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AD4ZM
UT WOS:000333260900009
PM 24501095
ER
PT J
AU Hillis, AE
AF Hillis, Argye E.
TI Inability to empathize: brain lesions that disrupt sharing and
understanding another's emotions
SO BRAIN
LA English
DT Review
DE empathy; stroke; emotion; focal lesion studies
ID VENTROMEDIAL PREFRONTAL CORTEX; FRONTOTEMPORAL LOBAR DEGENERATION;
SOCIAL COGNITION; FUNCTIONAL NEUROANATOMY; ORBITOFRONTAL CORTEX;
HUNTINGTONS-DISEASE; BEHAVIORAL VARIANT; NEURAL MECHANISMS;
ASPERGER-SYNDROME; RIGHT-HEMISPHERE
AB Imaging studies reveal activation of numerous brain regions in healthy individuals performing emotional empathy tasks. To identify regions critical for empathy, Hillis reviews studies of patients with impaired empathy after focal injury. Lesions to several areas disrupt empathy, but selective deficits in specific underlying cognitive processes are rarely reported.Emotional empathy-the ability to recognize, share in, and make inferences about another person's emotional state-is critical for all social interactions. The neural mechanisms underlying emotional empathy have been widely studied with functional imaging of healthy participants. However, functional imaging studies reveal correlations between areas of activation and performance of a task, so that they can only reveal areas engaged in a task, rather than areas of the brain that are critical for the task. Lesion studies complement functional imaging, to identify areas necessary for a task. Impairments in emotional empathy have been mostly studied in neurological diseases with fairly diffuse injury, such as traumatic brain injury, autism and dementia. The classic 'focal lesion' is stroke. There have been scattered studies of patients with impaired empathy after stroke and other focal injury, but these studies have included small numbers of patients. This review will bring together data from these studies, to complement evidence from functional imaging. Here I review how focal lesions affect emotional empathy. I will show how lesion studies contribute to the understanding of the cognitive and neural mechanisms underlying emotional empathy, and how they contribute to the management of patients with impaired emotional empathy.
C1 [Hillis, Argye E.] Johns Hopkins Univ, Sch Med, Johns Hopkins Hosp, Dept Neurol, Baltimore, MD 21287 USA.
[Hillis, Argye E.] Johns Hopkins Univ Hosp, Baltimore, MD 21287 USA.
[Hillis, Argye E.] Johns Hopkins Univ Hosp, Dept Cognit Sci, Baltimore, MD 21287 USA.
RP Hillis, AE (reprint author), Johns Hopkins Univ Hosp, Dept Neurol, Meyer 6-113,600 North Wolfe St, Baltimore, MD 21287 USA.
EM argye@JHMI.edu
FU National Institute of Neurological Disorders and Stroke [RO1NS47691]
FX This work was supported by: National Institute of Neurological Disorders
and Stroke, grant # [RO1NS47691].
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NR 109
TC 6
Z9 6
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0006-8950
EI 1460-2156
J9 BRAIN
JI Brain
PD APR
PY 2014
VL 137
BP 981
EP 997
DI 10.1093/brain/awt317
PN 4
PG 17
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AD4ZM
UT WOS:000333260900015
PM 24293265
ER
PT J
AU Hartley, C
Allen, ML
AF Hartley, Calum
Allen, Melissa L.
TI Intentions vs. resemblance: Understanding pictures in typical
development and autism
SO COGNITION
LA English
DT Article
DE Understanding pictures; Intentions; Resemblance; Typical development;
Autism
ID ACCIDENTAL ACTIONS; 18-MONTH-OLD INFANTS; SPECTRUM DISORDERS;
COGNITIVE-STYLE; CHILDREN; LANGUAGE; IMITATION; DRAWINGS;
REPRESENTATIONS; REENACTMENT
AB Research has debated whether children reflect on artists' intentions when comprehending pictures, or instead derive meaning entirely from resemblance. We explore these hypotheses by comparing how typically developing toddlers and low-functioning children with autism (a population impaired in intentional reasoning) interpret abstract pictures. In Experiment 1, both groups mapped familiar object names onto abstract pictures, however, they related the same representations to different 3-D referents. Toddlers linked abstract pictures with intended referents they did not resemble, while children with autism mapped picture-referent relations based on resemblance. Experiment 2 showed that toddlers do not rely upon linguistic cues to determine intended referential relations. Experiment 3 confirmed that the responding of children with autism was not due to perseveration or associative word learning, and also provided independent evidence of their intention-reading difficulties. We argue that typically developing children derive meaning from the social-communicative intentions underlying pictures when resemblance is an inadequate cue to meaning. By contrast, children with autism do not reflect on artists' intentions and simply relate pictures to whatever they happen to resemble. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Hartley, Calum; Allen, Melissa L.] Univ Lancaster, Dept Psychol, Lancaster LA1 4YF, England.
RP Hartley, C (reprint author), Univ Lancaster, Dept Psychol, Lancaster LA1 4YF, England.
EM hartleyc@exchange.lancs.ac.uk
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NR 65
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0010-0277
EI 1873-7838
J9 COGNITION
JI Cognition
PD APR
PY 2014
VL 131
IS 1
BP 44
EP 59
DI 10.1016/j.cognition.2013.12.009
PG 16
WC Psychology, Experimental
SC Psychology
GA AE1IG
UT WOS:000333722400003
PM 24440433
ER
PT J
AU Gatzoyia, D
Kotsis, K
Koullourou, I
Goulia, P
Carvalho, AF
Soulis, S
Hyphantis, T
AF Gatzoyia, Dimitra
Kotsis, Konstantinos
Koullourou, Iouliani
Goulia, Panagiota
Carvalho, Andre F.
Soulis, Spyros
Hyphantis, Thomas
TI The association of illness perceptions with depressive symptoms and
general psychological distress in parents of an offspring with autism
spectrum disorder
SO DISABILITY AND HEALTH JOURNAL
LA English
DT Article
DE Autism spectrum disorder; Depression; Illness perceptions; Parents;
PHQ-9; GHQ-28
ID MENTAL-HEALTH; PRESCHOOL-CHILDREN; DEVELOPMENTAL DELAY; BEHAVIOR
PROBLEMS; STRESS PROFILES; YOUNG-CHILDREN; GREEK VERSION; MOTHERS;
QUESTIONNAIRE; FATHERS
AB Background: Raising a child with an autism spectrum disorder (ASD) is a severe stressor and parents often present high levels of depression. Depression is associated with illness perceptions but this association has not been studied in parents of ASD offspring.
Objective: We aimed to assess the prevalence of psychological distress symptoms and their associations with illness perceptions in parents with an ASD offspring.
Methods: In 111 parents of ASD offspring we assessed depressive symptoms (PHQ-9), illness perceptions (B-IPQ) and general psychological distress (GHQ-28). Multiple linear and logistic regressions were used to assess their independent associations.
Results: The prevalence of parental clinically significant depressive symptoms was 34.2%, while 55% presented clinically significant levels of general psychological distress. Younger parents and those with lower financial resources had greater psychological distress and more severe depressive symptoms. Parents felt that the condition impacted their lives and believed it would be chronic. Their beliefs about the consequences and the chronicity of the disorder were significant independent correlates of their psychological distress and depressive symptoms severity.
Conclusions: These findings indicate that a remarkable proportion of parents with an ASD offspring present clinically significant depressive symptoms, which were associated with illness perceptions relevant to the consequences and the chronicity of the disorder. Our data encourage psychotherapeutic interventions aiming to support parents to deal with the consequences and chronicity of their offspring's disorder, in order to reduce parental psychological distress. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Gatzoyia, Dimitra; Soulis, Spyros] Univ Ioannina, Dept Primary Educ Special & Intercultural Educ, GR-45110 Ioannina, Greece.
[Kotsis, Konstantinos; Koullourou, Iouliani; Goulia, Panagiota; Hyphantis, Thomas] Univ Ioannina, Sch Med, Dept Psychiat, GR-45110 Ioannina, Greece.
[Carvalho, Andre F.] Univ Fed Ceara, Fac Med, Dept Clin Med, Fortaleza, Ceara, Brazil.
RP Hyphantis, T (reprint author), Univ Ioannina, Sch Med, Dept Psychiat, GR-45110 Ioannina, Greece.
EM tyfantis@cc.uoi.gr
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NR 54
TC 2
Z9 2
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1936-6574
EI 1876-7583
J9 DISABIL HEALTH J
JI Disabil. Health J.
PD APR
PY 2014
VL 7
IS 2
BP 173
EP 180
DI 10.1016/j.dhjo.2013.10.008
PG 8
WC Health Care Sciences & Services; Health Policy & Services; Public,
Environmental & Occupational Health; Rehabilitation
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health; Rehabilitation
GA AD7FM
UT WOS:000333427800007
PM 24680046
ER
PT J
AU Lin, CW
Chen, CY
Cheng, SJ
Hu, HT
Hsueh, YP
AF Lin, Chia-Wen
Chen, Chiung-Ya
Cheng, Sin-Jhong
Hu, Hsiao-Tang
Hsueh, Yi-Ping
TI Sarm1 deficiency impairs synaptic function and leads to behavioral
deficits,which can be ameliorated by an mGluR allosteric modulator
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE autism; CDPPB; innate immunity; long-term potentiation; long-term
depression; metabotrophic glutamate receptor; N-methyl-D-aspartate
receptor
ID AUTISM SPECTRUM DISORDERS; LONG-TERM POTENTIATION; MENTAL-RETARDATION;
HIPPOCAMPAL CA1; TNF-ALPHA; MICE; PROTEIN; PLASTICITY; EXPRESSION;
MUTATIONS
AB Innate immune responses have been shown to influence brain development and function. Dysregulation of innate immunity is significantly associated with psychiatric disorders such as autism spectrum disorders and schizophrenia, which are well-known neurodevelopmental disorders. Recent studies have revealed that critical players of the innate immune response are expressed in neuronal tissues and regulate neuronal function and activity. For example, Sarm1, a negative regulator that acts downstream of Toll-like receptor (TLR) 3 and 4, is predominantly expressed in neurons. We have previously shown that Sarm1 regulates neuronal morphogenesis and the expression of inflammatory cytokines in the brain, which then affects learning ability, cognitive flexibility, and social interaction. Because impaired neuronal morphogenesis and dysregulation of cytokine expression may disrupt neuronal activity, we investigated whether Sarm1 knockdown affects the synaptic responses of neurons. We here show that reduced Sarm1 expression impairs metabotropic glutamate receptor (mGluR)-dependent long-term depression (LTD) formation but enhances N-methyl-D-aspartate receptor (NMDAR)-dependent long-term potentiation production in hippocampal CA1 neurons. The expression levels of post-synaptic proteins, including NR2a, NR1, Shank1 and Shank3, are also altered in Sarm1 knockdown mice, suggesting a role for Sarm1 in the maintenance of synaptic homeostasis. The addition of a positive allosteric modulator of mGluR5, CDPPB, ameliorates the LTD defects in slice recording and the behavioral deficits in social interaction and associative memory. These results suggest an important role for mGluR5 signaling in the function of Sarm1. In conclusion, our study demonstrates a role for Sarm1 in the regulation of synaptic plasticity. Through these mechanisms, Sarm1 knockdown results in the impairment of associative memory and social interactions in mice.
C1 [Lin, Chia-Wen; Chen, Chiung-Ya; Hu, Hsiao-Tang; Hsueh, Yi-Ping] Acad Sinica, Inst Mol Biol, Taipei 115, Taiwan.
[Cheng, Sin-Jhong] Acad Sinica, Neurosci Program, Taipei 115, Taiwan.
[Hu, Hsiao-Tang; Hsueh, Yi-Ping] Natl Def Med Ctr, Grad Inst Life Sci, Taipei, Taiwan.
RP Hsueh, YP (reprint author), Acad Sinica, Inst Mol Biol, 128 Acad Rd,Sect 2, Taipei 115, Taiwan.
EM yph@gate.sinica.edu.tw
FU Academia Sinica [AS-103-TP-B05]; National Science Council [NSC
102-2321-B-001-029, 102-2321-B-001-054, NSC 102-2811-B-001-037]
FX This work was supported by grants from Academia Sinica (AS-103-TP-B05 to
Yi-Ping Hsueh) and the National Science Council (NSC 102-2321-B-001-029
and 102-2321-B-001-054 to Yi-Ping Hsueh). Chiung-Ya Chen was supported
by National Science Council (NSC 102-2811-B-001-037).
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NR 38
TC 4
Z9 4
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD APR 1
PY 2014
VL 8
AR 87
DI 10.3389/fncel.2014.00087
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AD9BE
UT WOS:000333558700001
PM 24744698
ER
PT J
AU Sarasua, SM
Dwivedi, A
Boccuto, L
Chen, CF
Sharp, JL
Rollins, JD
Collins, JS
Rogers, RC
Phelan, K
DuPont, BR
AF Sarasua, Sara M.
Dwivedi, Alka
Boccuto, Luigi
Chen, Chin-Fu
Sharp, Julia L.
Rollins, Jonathan D.
Collins, Julianne S.
Rogers, R. Curtis
Phelan, Katy
DuPont, Barbara R.
TI 22q13.2q13.32 genomic regions associated with severity of speech delay,
developmental delay, and physical features in Phelan-McDermid syndrome
SO GENETICS IN MEDICINE
LA English
DT Article
DE genotype-phenotype; language delay; Phelan-McDermid syndrome; SHANK3;
22q13 deletion syndrome
ID AUTISM SPECTRUM DISORDERS; 22Q13.3 DELETION SYNDROME; MOLECULAR
CHARACTERIZATION; INTELLECTUAL DISABILITY; RHO-GTPASES; GENE; SHANK3;
LANGUAGE; MUTATIONS; TARGETS
AB Purpose: Phelan-McDermid syndrome is a developmental disability syndrome with varying deletions of 22q13 and varying clinical severity. We tested the hypothesis that, in addition to loss of the telomeric gene SHANK3, specific genomic regions within 22q13 are associated with important clinical features.
Methods: We used a customized oligo array comparative genomic hybridization of 22q12.3-terminus to obtain deletion breakpoints in a cohort of 70 patients with terminal 22q13 deletions. We used association and receiver operating characteristic statistical methods in a novel manner and also incorporated protein interaction networks to identify 22q13 genomic locations and genes associated with clinical features.
Results: Specific genomic regions and candidate genes within 22q13.2q13.32 were associated with severity of speech/language delay, neonatal hypotonia, delayed age at walking, hair-pulling behaviors, male genital anomalies, dysplastic toenails, large/fleshy hands, macrocephaly, short and tall stature, facial asymmetry, and atypical reflexes: We also found regions suggestive of a negative association with autism spectrum disorders.
Conclusion: This work advances the field of research beyond the observation of a correlation between deletion size and phenotype and identifies candidate 22q13 loci, and in some cases specific genes, associated with singular clinical features observed in Phelan-McDermid syndrome. Our statistical approach may be useful in genotype-phenotype analyses for other microdeletion or microduplication syndromes.
C1 [Sarasua, Sara M.; Dwivedi, Alka; Boccuto, Luigi; Chen, Chin-Fu; Collins, Julianne S.; Rogers, R. Curtis; DuPont, Barbara R.] Greenwood Genet Ctr, Greenwood, SC 29646 USA.
Clemson Univ, Dept Math Sci, Clemson, SC USA.
[Sharp, Julia L.; Rollins, Jonathan D.] Med Univ S Carolina, Charleston, SC 29425 USA.
[Phelan, Katy] Tulane Univ, Sch Med, Hayward Genet Ctr, New Orleans, LA 70112 USA.
RP Sarasua, SM (reprint author), Greenwood Genet Ctr, Greenwood, SC 29646 USA.
EM ssarasua@ggc.org
FU Phelan-McDermid Syndrome Foundation; Genetics Endowment of South
Carolina; South Carolina Department of Disabilities and Special Needs
FX We thank the patients and family members who participated in this study
and made this work possible. We thank the Phelan-McDermid Syndrome
Foundation which organized the biannual family conferences where much of
the study data collection took place. We thank Amy Lawton-Rauh and
Charles E. Schwartz for helpful comments on the manuscript. We thank
Gail Stapleton and Cindy Skinner who coordinated study operations. We
dedicate this article to the late J.S.C. This work was supported by the
Phelan-McDermid Syndrome Foundation (to S.M.S.); the Genetics Endowment
of South Carolina; and the South Carolina Department of Disabilities and
Special Needs.
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NR 40
TC 0
Z9 2
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1098-3600
EI 1530-0366
J9 GENET MED
JI Genet. Med.
PD APR
PY 2014
VL 16
IS 4
BP 318
EP 328
DI 10.1038/gim.2013.144
PG 11
WC Genetics & Heredity
SC Genetics & Heredity
GA AE2BZ
UT WOS:000333779600006
PM 24136618
ER
PT J
AU Bauminger-Zviely, N
Karin, E
Kimhi, Y
Agam-Ben-Artzi, G
AF Bauminger-Zviely, Nirit
Karin, Eynat
Kimhi, Yael
Agam-Ben-Artzi, Galit
TI Spontaneous peer conversation in preschoolers with high- functioning
autism spectrum disorder versus typical development
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE High-functioning children with autism spectrum disorder (ASD);
preschool; friendship; pragmatics; social conversation
ID SOCIAL COMMUNICATION; LANGUAGE IMPAIRMENT; ASPERGER-SYNDROME; CHILDREN;
FRIENDSHIP; PARENTS; SCALE; TALK
AB BackgroundIn typical development, early peer talk is crucial for pragmatic development. The pragmatic deficit, reflected in remarkably deficient conversational capabilities, is considered the hallmark of the language deficit in autism spectrum disorder (ASD); yet, spontaneous peer talk in preschoolers with ASD was rarely explored.
MethodWe conducted comparative assessment of spontaneous peer talk during 10-min free-play scenarios in preschoolers with high-functioning ASD (HFASD; n=27) versus those with typical development (n=30). Groups were matched on SES, verbal/nonverbal MA, IQ, and CA. Correlations with CA, IQ, VMA, and NVMA were examined. We compared the two groups' interactions with a friend-partner versus a nonfriend partner; in addition, in the HFASD group, we examined interactions with a typical partner (mixed dyads) versus a partner with HFASD (nonmixed dyads). Children's conversations were videotaped and coded to tap pragmatic capabilities and conversational quality.
ResultsFindings revealed group differences in pragmatic abilities and conversational quality, with the typical group showing more intact capacities than the HFASD group. However, in the HFASD group, interactions with friends surpassed interactions with nonfriends on several key pragmatic capabilities and on all conversational quality measures (meshing, assertiveness, and responsiveness), thus suggesting that friendship may enable children to converse in a more socially complex and coregulated way. Also, children with higher cognitive capabilities, especially in the HFASD group, demonstrated more intact pragmatic capacities.
ConclusionDespite the robust pragmatic deficit in HFASD, reflected in conversational capabilities, involvement in friendship relationships and high cognitive capabilities were linked to more intact pragmatic capacities. Theoretical and therapeutic implications are discussed.
C1 [Bauminger-Zviely, Nirit; Karin, Eynat; Kimhi, Yael; Agam-Ben-Artzi, Galit] Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
RP Bauminger-Zviely, N (reprint author), Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
EM nirit.bauminger@biu.ac.il
FU Israel Science Foundation
FX This research was partially supported by the Israel Science Foundation
through grant given to the first author. Special thanks are extended to
the children who took part in this study. The authors would like to
express their appreciation to Dee B. Ankonina for her editorial
contribution and to Dov Har-Even for his statistical assistance.
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Bauminger-Zviely N., 2013, SOCIAL ACAD ABILITIE
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NR 34
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9630
EI 1469-7610
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD APR
PY 2014
VL 55
IS 4
BP 363
EP 373
DI 10.1111/jcpp.12158
PG 11
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AD4JU
UT WOS:000333218100009
PM 24304222
ER
PT J
AU Kenworthy, L
Anthony, LG
Naiman, DQ
Cannon, L
Wills, MC
Caroline, LT
Werner, MA
Alexander, KC
Strang, J
Bal, E
Sokoloff, JL
Wallace, GL
AF Kenworthy, Lauren
Anthony, Laura Gutermuth
Naiman, Daniel Q.
Cannon, Lynn
Wills, Meagan C.
Caroline Luong-Tran
Werner, Monica Adler
Alexander, Katie C.
Strang, John
Bal, Elgiz
Sokoloff, Jennifer L.
Wallace, Gregory L.
TI Randomized controlled effectiveness trial of executive function
intervention for children on the autism spectrum
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Autism; executive function; RRBI; intervention; CBT
ID YOUNG-CHILDREN; BEHAVIORAL SUPPORTS; SOCIAL-INTERACTION;
ASPERGERS-SYNDROME; BRAIN-INJURY; REAL-WORLD; DISORDERS; ADOLESCENTS;
ADULTS; MIND
AB BackgroundUnstuck and On Target (UOT) is an executive function (EF) intervention for children with autism spectrum disorders (ASD) targeting insistence on sameness, flexibility, goal-setting, and planning through a cognitive-behavioral program of self-regulatory scripts, guided/faded practice, and visual/verbal cueing. UOT is contextually-based because it is implemented in school and at home, the contexts in which a child uses EF skills.
MethodsTo evaluate the effectiveness of UOT compared with a social skills intervention (SS), 3rd-5th graders with ASD (mean IQ=108; UOT n=47; SS n=20) received interventions delivered by school staff in small group sessions. Students were matched for gender, age, race, IQ, ASD symptomotolgy, medication status, and parents' education. Interventions were matched for dose' of intervention and training. Measures of pre-post change included classroom observations, parent/teacher report, and direct child measures of problem-solving, EF, and social skills. Schools were randomized and evaluators, but not parents or teachers, were blinded to intervention type.
ResultsInterventions were administered with high fidelity. Children in both groups improved with intervention, but mean change scores from pre- to postintervention indicated significantly greater improvements for UOT than SS groups in: problem-solving, flexibility, and planning/organizing. Also, classroom observations revealed that participants in UOT made greater improvements than SS participants in their ability to follow rules, make transitions, and be flexible. Children in both groups made equivalent improvements in social skills.
ConclusionsThese data support the effectiveness of the first contextually-based EF intervention for children with ASD. UOT improved classroom behavior, flexibility, and problem-solving in children with ASD. Individuals with variable background/training in ASD successfully implemented UOT in mainstream educational settings.
C1 [Kenworthy, Lauren; Anthony, Laura Gutermuth; Wills, Meagan C.; Caroline Luong-Tran; Strang, John; Bal, Elgiz; Sokoloff, Jennifer L.] Childrens Natl Med Ctr, Ctr Autism Spectrum Disorders, Rockville, MD USA.
[Kenworthy, Lauren; Anthony, Laura Gutermuth; Strang, John] George Washington Univ, Sch Med, Washington, DC USA.
[Naiman, Daniel Q.] Johns Hopkins Univ, Dept Appl Math & Stat, Baltimore, MD USA.
[Cannon, Lynn; Werner, Monica Adler; Alexander, Katie C.] Ivymount Sch, Rockville, MD USA.
[Wallace, Gregory L.] NIMH, Lab Brain & Cognit, NIH, Bethesda, MD 20892 USA.
RP Anthony, LG (reprint author), 15245 Shady Grove Rd,Suite 350, Rockville, MD 20850 USA.
EM lkenwort@cnmc.org; lanthony@cnmc.org
RI Strang, John/H-5460-2011
OI Strang, John/0000-0002-5413-2725
FU National Institute of Mental Health (NIMH) [R34MH083053]; Organization
for Autism Research; Isadore and Bertha Gudelsky Family Foundation; NIH,
NIMH
FX This project was supported by Grant Number R34MH083053 from the National
Institute of Mental Health (NIMH), the Organization for Autism Research,
and the Isadore and Bertha Gudelsky Family Foundation. G. L. W. was
supported by the Intramural Research Program of the NIH, NIMH. L. K.
receives financial compensation for use of the BRIEF. L. C., L. K., K.
A., M. A. W. and L. G. A. receive financial compensation for the use of
Unstuck and On Target manuals. The content is solely the responsibility
of the authors and does not necessarily represent the official views of
the NIMH, the NIH or the other funders. The authors thank the children,
families, and schools who participated (Archdiocese of Washington and
Fairfax County). The authors also thank their many advisors, especially
Connie Kasari, UCLA. The study's statistical expert is Daniel Naiman.
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NR 54
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9630
EI 1469-7610
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD APR
PY 2014
VL 55
IS 4
BP 374
EP 383
DI 10.1111/jcpp.12161
PG 10
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AD4JU
UT WOS:000333218100010
PM 24256459
ER
PT J
AU Pruett, JR
AF Pruett, John R., Jr.
TI BAP: Not-Quite-Autism in Infants
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Editorial Material
ID SIGNS
C1 [Pruett, John R., Jr.] Washington Univ, Sch Med, St Louis, MO 63110 USA.
RP Pruett, JR (reprint author), Washington Univ, Sch Med, Dept Psychiat, 660 S Euclid Ave,Campus Box 8134, St Louis, MO 63110 USA.
EM pruettj@psychiatry.wustl.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Bolton PF, 2012, J AM ACAD CHILD PSY, V51, P249, DOI 10.1016/j.jaac.2011.12.009
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NR 10
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0890-8567
EI 1527-5418
J9 J AM ACAD CHILD PSY
JI J. Am. Acad. Child Adolesc. Psychiatr.
PD APR
PY 2014
VL 53
IS 4
BP 392
EP 394
DI 10.1016/j.jaac.2014.01.011
PG 3
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AE1YK
UT WOS:000333770200003
PM 24655647
ER
PT J
AU Ozonoff, S
Young, GS
Belding, A
Hill, M
Hill, A
Hutman, T
Johnson, S
Miller, M
Rogers, SJ
Schwichtenberg, AJ
Steinfeld, M
Iosif, AM
AF Ozonoff, Sally
Young, Gregory S.
Belding, Ashleigh
Hill, Monique
Hill, Alesha
Hutman, Ted
Johnson, Scott
Miller, Meghan
Rogers, Sally J.
Schwichtenberg, A. J.
Steinfeld, Marybeth
Iosif, Ana-Maria
TI The Broader Autism Phenotype in Infancy: When Does It Emerge?
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism spectrum disorder; broader autism phenotype; siblings;
social-communication; infancy
ID SPECTRUM DISORDERS; HIGH-RISK; CHILDREN; SIBLINGS; COMMUNICATION;
TEMPERAMENT; ENGAGEMENT; PRECURSORS; RELATIVES; COGNITION
AB Objective: This study had 3 goals, which were to examine the following: the frequency of atypical development, consistent with the broader autism phenotype, in high-risk infant siblings of children with autism spectrum disorder (ASD); the age at which atypical development is first evident; and which developmental domains are affected. Method: A prospective longitudinal design was used to compare 294 high-risk infants and 116 low-risk infants. Participants were tested at 6, 12, 18, 24, and 36 months of age. At the final visit, outcome was classified as ASD, Typical Development (I'll), or Non-TD (defined as elevated Autism Diagnostic Observation Schedule [ADOS] score, low Mullen Scale scores, or both). Results: Of the high-risk group, 28% were classified as Non-TD at 36 months of age. Growth curve models demonstrated that the Non-TD group could not be distinguished from the other groups at 6 months of age, but differed significantly from the Low-Risk TD group by 12 months on multiple measures. The Non-TD group demonstrated atypical development in cognitive, motor, language, and social domains, with differences particularly prominent in the social-communication domain. Conclusions: These results demonstrate that features of atypical development, consistent with the broader autism phenotype, are detectable by the first birthday and affect development in multiple domains. This highlights the necessity for dose developmental surveillance of infant siblings of children with ASD, along with implementation of appropriate interventions as needed.
C1 [Ozonoff, Sally; Young, Gregory S.; Belding, Ashleigh; Hill, Monique; Hill, Alesha; Miller, Meghan; Rogers, Sally J.; Steinfeld, Marybeth; Iosif, Ana-Maria] Univ Calif Davis, Davis, CA USA.
[Hutman, Ted; Johnson, Scott] Univ Calif Los Angeles, Los Angeles, CA 90024 USA.
[Schwichtenberg, A. J.] Purdue Univ, W Lafayette, IN 47907 USA.
RP Ozonoff, S (reprint author), Univ Calif Davis Hlth Syst, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM sally.ozonoff@ucdmc.ucdavis.edu
FU National Institute of Mental Health [RO1 MH0638398 (SO.), U54 MH068172]
FX This study was supported by the National Institute of Mental Health
grants, RO1 MH0638398 (SO.) and U54 MH068172 (Marian Sigman, PhD
[deceased]).
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PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0890-8567
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JI J. Am. Acad. Child Adolesc. Psychiatr.
PD APR
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VL 53
IS 4
BP 398
EP 407
DI 10.1016/j.jaac.2013.12.020
PG 10
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AE1YK
UT WOS:000333770200005
PM 24655649
ER
PT J
AU Belgard, TG
Jankovic, I
Lowe, JK
Geschwind, DH
AF Belgard, T. G.
Jankovic, I.
Lowe, J. K.
Geschwind, D. H.
TI Population structure confounds autism genetic classifier
SO MOLECULAR PSYCHIATRY
LA English
DT Letter
ID RESOURCE EXCHANGE
C1 [Belgard, T. G.; Lowe, J. K.; Geschwind, D. H.] Univ Calif Los Angeles, Ctr Autism Res & Treatment, Los Angeles, CA 90095 USA.
[Belgard, T. G.; Lowe, J. K.; Geschwind, D. H.] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Program Neurobehav Genet, Los Angeles, CA 90024 USA.
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[Lowe, J. K.; Geschwind, D. H.] Univ Calif Los Angeles, Dept Neurol, Program Neurogenet, Los Angeles, CA 90024 USA.
RP Belgard, TG (reprint author), Univ Calif Los Angeles, Ctr Autism Res & Treatment, Los Angeles, CA 90095 USA.
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AU Barry, G
AF Barry, G.
TI Integrating the roles of long and small non-coding RNA in brain function
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SO MOLECULAR PSYCHIATRY
LA English
DT Review
DE brain development; long non-coding RNA; neurodegeneration; psychiatric
disease; RNA-targeted therapeutics; small non-coding RNA
ID CENTRAL-NERVOUS-SYSTEM; PRADER-WILLI-SYNDROME; SMALL NUCLEOLAR RNAS;
MOUSE MODEL; GENE-EXPRESSION; RETT-SYNDROME; STEM-CELLS; MICRORNAS;
EVOLUTION; NUCLEAR
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NR 119
TC 7
Z9 8
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD APR
PY 2014
VL 19
IS 4
BP 410
EP 416
DI 10.1038/mp.2013.196
PG 7
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AD6ZB
UT WOS:000333409100006
PM 24468823
ER
PT J
AU Iafrati, J
Orejarena, MJ
Lassalle, O
Bouamrane, L
Chavis, P
AF Iafrati, J.
Orejarena, M. J.
Lassalle, O.
Bouamrane, L.
Chavis, P.
TI Reelin, an extracellular matrix protein linked to early onset
psychiatric diseases, drives postnatal development of the prefrontal
cortex via GluN2B-NMDARs and the mTOR pathway
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE early onset psychiatric diseases; fear memory; ketamine; prefrontal
cortex; reelin; synaptic plasticity
ID LONG-TERM DEPRESSION; HIPPOCAMPAL SYNAPTIC PLASTICITY; NR2B-CONTAINING
NMDA RECEPTORS; DENDRITIC SPINE DENSITY; BEHAVIORAL-PHENOTYPE; CORTICAL
DEVELOPMENT; FEAR MEMORY; IN-VITRO; SCHIZOPHRENIA; MOUSE
AB Defective brain extracellular matrix (ECM) is a factor of vulnerability in various psychiatric diseases such as schizophrenia, depression and autism. The glycoprotein reelin is an essential building block of the brain ECM that modulates neuronal development and participates to the functions of adult central synapses. The reelin gene ( RELN) is a strong candidate in psychiatric diseases of early onset, but its synaptic and behavioral functions in juvenile brain circuits remain unresolved. Here, we found that in juvenile reelin-haploinsufficient heterozygous reeler mice (HRM), abnormal fear memory erasure is concomitant to reduced dendritic spine density and anomalous long-term potentiation in the prefrontal cortex. In juvenile HRM, a single in vivo injection with ketamine or Ro25-6981 to inhibit GluN2B-N-methyl-D-aspartate receptors (NMDARs) restored normal spine density, synaptic plasticity and converted fear memory to an erasure-resilient state typical of adult rodents. The functional and behavioral rescue by ketamine was prevented by rapamycin, an inhibitor of the mammalian target of rapamycin pathway. Finally, we show that fear memory erasure persists until adolescence in HRM and that a single exposure to ketamine during the juvenile period reinstates normal fear memory in adolescent mice. Our results show that reelin is essential for successful structural, functional and behavioral development of juvenile prefrontal circuits and that this developmental period provides a critical window for therapeutic rehabilitation with GluN2B-NMDAR antagonists.
C1 [Iafrati, J.; Orejarena, M. J.; Lassalle, O.; Bouamrane, L.; Chavis, P.] INSERM, UMR 901, Marseille, France.
[Iafrati, J.; Orejarena, M. J.; Lassalle, O.; Bouamrane, L.; Chavis, P.] Aix Marseille Univ, Unite Mixte Rech 901, Marseille, France.
[Iafrati, J.; Orejarena, M. J.; Lassalle, O.; Bouamrane, L.; Chavis, P.] INMED, Marseille, France.
RP Chavis, P (reprint author), INSERM, INMED, U901, Parc Sci Luminy BP 13,163 Ave Luminy, F-13273 Marseille, France.
EM pascale.chavis@inserm.fr
FU INSERM; French Ministere de la Recherche (MENRT); JMO; Fondation pour la
Recherche Medicale
FX Work in Dr P Chavis laboratory was supported by INSERM. JI and LB were
supported by the French Ministere de la Recherche (MENRT) and JMO by
Fondation pour la Recherche Medicale. We thank the National Institute of
Mental Health's Chemical Synthesis and Drug Supply Program for providing
DNQX. We thank Dr O. Manzoni for helpful discussions and critical
reading of the manuscript, Dr H Martin for critical reading of the
manuscript, all members of the Chavis laboratory for stimulating
discussions, Dr C Herry for helpful discussions on fear conditioning and
R Martinez for his expert technical help during the installation of our
laboratory.
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NR 64
TC 6
Z9 6
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD APR
PY 2014
VL 19
IS 4
BP 417
EP 426
DI 10.1038/mp.2013.66
PG 10
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AD6ZB
UT WOS:000333409100007
PM 23752244
ER
PT J
AU Wong, CCY
Meaburn, EL
Ronald, A
Price, TS
Jeffries, AR
Schalkwyk, LC
Plomin, R
Mill, J
AF Wong, C. C. Y.
Meaburn, E. L.
Ronald, A.
Price, T. S.
Jeffries, A. R.
Schalkwyk, L. C.
Plomin, R.
Mill, J.
TI Methylomic analysis of monozygotic twins discordant for autism spectrum
disorder and related behavioural traits
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE ASD; autism; copy-number variation; DNA methylation; epigenetics;
monozygotic twins
ID HIDDEN-MARKOV MODEL; SNP GENOTYPING DATA; DNA METHYLATION; BIPOLAR
DISORDER; EPIGENETICS; GENOME; BRAIN; SPECIFICITY; POPULATION; CHILDHOOD
AB Autism spectrum disorder (ASD) defines a group of common, complex neurodevelopmental disorders. Although the aetiology of ASD has a strong genetic component, there is considerable monozygotic (MZ) twin discordance indicating a role for non-genetic factors. Because MZ twins share an identical DNA sequence, disease-discordant MZ twin pairs provide an ideal model for examining the contribution of environmentally driven epigenetic factors in disease. We performed a genome-wide analysis of DNA methylation in a sample of 50 MZ twin pairs (100 individuals) sampled from a representative population cohort that included twins discordant and concordant for ASD, ASD-associated traits and no autistic phenotype. Within-twin and between-group analyses identified numerous differentially methylated regions associated with ASD. In addition, we report significant correlations between DNA methylation and quantitatively measured autistic trait scores across our sample cohort. This study represents the first systematic epigenomic analyses of MZ twins discordant for ASD and implicates a role for altered DNA methylation in autism.
C1 [Wong, C. C. Y.; Meaburn, E. L.; Ronald, A.; Price, T. S.; Jeffries, A. R.; Schalkwyk, L. C.; Plomin, R.; Mill, J.] Kings Coll London, MRC Social Genet & Dev Psychiat Ctr, Inst Psychiat, London SE5 8AF, England.
[Meaburn, E. L.; Ronald, A.] Univ London, Dept Psychol Sci, London, England.
[Price, T. S.] Univ Penn, Inst Translat Med & Therapeut, Sch Med, Philadelphia, PA 19104 USA.
[Mill, J.] Univ Exeter, Sch Med, Exeter, Devon, England.
RP Mill, J (reprint author), Kings Coll London, Social Genet & Dev Psychiat Ctr, Inst Psychiat, Denmark Hill,De Crespigny Pk, London SE5 8AF, England.
EM jonathan.mill@kcl.ac.uk
RI Wong, Chloe/B-3679-2012; Ronald, Angelica/C-7812-2009; Jeffries,
Aaron/D-1256-2014; Price, Thomas/B-7372-2008; Schalkwyk,
Leonard/A-2150-2010; Mill, Jonathan/B-3276-2010
OI Wong, Chloe/0000-0003-4886-8506; Ronald, Angelica/0000-0002-9576-2176;
Jeffries, Aaron/0000-0002-1235-8291; Price, Thomas/0000-0001-7356-2109;
Schalkwyk, Leonard/0000-0001-7030-5756; Mill,
Jonathan/0000-0003-1115-3224
FU Autism Speaks Grant [4743]; UK Medical Research Council (MRC) [G0901245,
G0500079]; US National Institutes of Health [HD044454, HD046167];
National Institute for Health Research (NIHR) comprehensive Biomedical
Research Centre award; St Thomas' NHS Foundation Trust in partnership
with King's College London and King's College Hospital NHS Foundation
Trust; MRC Research Professorship award [G19/2]; European Advanced
Investigator Award [295366]; UK MRC; NARSAD Young Investigator Award
FX This work was supported, in part, by the Autism Speaks Grant 4743 (RP,
Principal Investigator). The twins were selected from the Twins Early
Development Study which has been funded continuously since 1995 by a UK
Medical Research Council (MRC) program grant to RP (G0901245, and
previously G0500079), with additional support from the US National
Institutes of Health (HD044454; HD046167). We acknowledge the use of BRC
Core Facilities provided by the financial support from the Department of
Health via the National Institute for Health Research (NIHR)
comprehensive Biomedical Research Centre award to Guy's and St Thomas'
NHS Foundation Trust in partnership with King's College London and
King's College Hospital NHS Foundation Trust. RP is supported by an MRC
Research Professorship award (G19/2) and a European Advanced
Investigator Award (295366). CCYW was a PhD student who was funded by
the UK MRC. JM was supported by an NARSAD Young Investigator Award.
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NR 40
TC 20
Z9 22
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD APR
PY 2014
VL 19
IS 4
BP 495
EP 503
DI 10.1038/mp.2013.41
PG 9
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AD6ZB
UT WOS:000333409100016
PM 23608919
ER
PT J
AU Skafidas, E
Testa, R
Zantomio, D
Chana, G
Everall, IP
Pantelis, C
AF Skafidas, E.
Testa, R.
Zantomio, D.
Chana, G.
Everall, I. P.
Pantelis, C.
TI Predicting the diagnosis of autism spectrum disorder using gene pathway
analysis
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE autistic disorder/diagnosis; classification; childhood development
disorders; predictive testing
ID COPY NUMBER VARIATION; SUSCEPTIBILITY LOCI; ASSOCIATION; ACTIVATION;
LINKAGE; ABNORMALITIES; EXPRESSION; GENOME; NEUROINFLAMMATION;
INDIVIDUALS
AB Autism spectrum disorder (ASD) depends on a clinical interview with no biomarkers to aid diagnosis. The current investigation interrogated single-nucleotide polymorphisms (SNPs) of individuals with ASD from the Autism Genetic Resource Exchange (AGRE) database. SNPs were mapped to Kyoto Encyclopedia of Genes and Genomes (KEGG)-derived pathways to identify affected cellular processes and develop a diagnostic test. This test was then applied to two independent samples from the Simons Foundation Autism Research Initiative (SFARI) and Wellcome Trust 1958 normal birth cohort (WTBC) for validation. Using AGRE SNP data from a Central European (CEU) cohort, we created a genetic diagnostic classifier consisting of 237 SNPs in 146 genes that correctly predicted ASD diagnosis in 85.6% of CEU cases. This classifier also predicted 84.3% of cases in an ethnically related Tuscan cohort; however, prediction was less accurate (56.4%) in a genetically dissimilar Han Chinese cohort (HAN). Eight SNPs in three genes (KCNMB4, GNAO1, GRM5) had the largest effect in the classifier with some acting as vulnerability SNPs, whereas others were protective. Prediction accuracy diminished as the number of SNPs analyzed in the model was decreased. Our diagnostic classifier correctly predicted ASD diagnosis with an accuracy of 71.7% in CEU individuals from the SFARI (ASD) and WTBC (controls) validation data sets. In conclusion, we have developed an accurate diagnostic test for a genetically homogeneous group to aid in early detection of ASD. While SNPs differ across ethnic groups, our pathway approach identified cellular processes common to ASD across ethnicities. Our results have wide implications for detection, intervention and prevention of ASD.
C1 [Skafidas, E.] Univ Melbourne, Ctr Neural Engn, Parkville, Vic 3052, Australia.
[Testa, R.; Pantelis, C.] Univ Melbourne, Dept Psychiat, Melbourne Neuropsychiat Ctr, Parkville, Vic 3052, Australia.
[Testa, R.; Pantelis, C.] Melbourne Hlth, Melbourne, Vic, Australia.
[Testa, R.] Monash Univ, Dept Psychol, Clayton, Vic 3168, Australia.
[Zantomio, D.] Austin Hlth, Dept Haematol, Heidelberg, Vic, Australia.
[Chana, G.; Everall, I. P.; Pantelis, C.] Univ Melbourne, Dept Psychiat, Parkville, Vic 3052, Australia.
RP Pantelis, C (reprint author), NNF, Level 3,161 Barry St, Carlton, Vic 3053, Australia.
EM cpant@unimelb.edu.au
FU NHMRC Senior Principal Research Fellowship [628386]; National Institute
of Mental Health [1U24MH081810]; Medical Research Council [G1234567];
Wellcome Trust [012345]
FX Professor Christos Pantelis was supported by a NHMRC Senior Principal
Research Fellowship (ID 628386). AGRE: We gratefully acknowledge the
resources provided by the Autism Genetic Resource Exchange (AGRE)
Consortium and the participating AGRE families. The Autism Genetic
Resource Exchange is a program of Autism Speaks and is supported, in
part, by grant 1U24MH081810 from the National Institute of Mental Health
to Clara M Lajonchere (PI). SFARI: We are grateful to all of the
families at the participating Simons Simplex Collection (SSC) sites, as
well as the principal investigators (A Beaudet, R Bernier, J
Constantino, E Cook, E Fombonne, D Geschwind, R Goin-Kochel, E Hanson, D
Grice, A Klin, D Ledbetter, C Lord, C Martin, D Martin, R Maxim, J
Miles, O Ousley, K Pelphrey, B Peterson, J Piggot, C Saulnier, M State,
W Stone, J Sutcliffe, C Walsh, Z Warren, E Wijsman). WTBC: We
acknowledge use of the British 1958 Birth Cohort DNA collection, funded
by the Medical Research Council grant G1234567 and the Wellcome Trust
grant 012345.
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NR 50
TC 15
Z9 17
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD APR
PY 2014
VL 19
IS 4
BP 504
EP 510
DI 10.1038/mp.2012.126
PG 7
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AD6ZB
UT WOS:000333409100017
PM 22965006
ER
PT J
AU Sun, T
Hevner, RF
AF Sun, Tao
Hevner, Robert F.
TI Growth and folding of the mammalian cerebral cortex: from molecules to
malformations
SO NATURE REVIEWS NEUROSCIENCE
LA English
DT Review
ID INTERKINETIC NUCLEAR MIGRATION; OUTER SUBVENTRICULAR ZONE;
CENTRAL-NERVOUS-SYSTEM; NEURAL STEM-CELLS; DEVELOPING MOUSE NEOCORTEX;
AUTISM SPECTRUM DISORDERS; PTEN TUMOR-SUPPRESSOR; CONTROLS BRAIN SIZE;
RADIAL GLIAL-CELLS; SPINDLE ORIENTATION
AB The size and extent of folding of the mammalian cerebral cortex are important factors that influence a species' cognitive abilities and sensorimotor skills. Studies in various animal models and in humans have provided insight into the mechanisms that regulate cortical growth and folding. Both protein-coding genes and microRNAs control cortical size, and recent progress in characterizing basal progenitor cells and the genes that regulate their proliferation has contributed to our understanding of cortical folding. Neurological disorders linked to disruptions in cortical growth and folding have been associated with novel neurogenetic mechanisms and aberrant signalling pathways, and these findings have changed concepts of brain evolution and may lead to new medical treatments for certain disorders.
C1 [Sun, Tao] Cornell Univ, Weill Med Coll, Dept Cell & Dev Biol, New York, NY 10065 USA.
[Hevner, Robert F.] Seattle Childrens Res Inst, Dept Neurol Surg, Seattle, WA 98101 USA.
[Hevner, Robert F.] Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA 98101 USA.
RP Sun, T (reprint author), Cornell Univ, Weill Med Coll, Dept Cell & Dev Biol, 1300 York Ave,BOX 60, New York, NY 10065 USA.
EM tas2009@med.cornell.edu; rhevner@uw.edu
FU US National Institutes of Health [R01-MH083680, R21-MH087070,
R01-NS085081]; Hirschl/Weill-Caulier Trust
FX The authors thank J. Knauss for critical reading of the manuscript. The
authors thank W. Dobyns at Seattle Children's Hospital, Washington, USA,
for sharing the unpublished images used in BOX 1. This work was
supported by the Hirschl/Weill-Caulier Trust (T.S.), R01-MH083680
(T.S.), R21-MH087070 (R.F.H.) and R01-NS085081 (R.F.H.) grants from the
US National Institutes of Health.
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NR 212
TC 17
Z9 18
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1471-003X
EI 1471-0048
J9 NAT REV NEUROSCI
JI Nat. Rev. Neurosci.
PD APR
PY 2014
VL 15
IS 4
BP 217
EP 232
DI 10.1038/nrn3707
PG 16
WC Neurosciences
SC Neurosciences & Neurology
GA AD4YB
UT WOS:000333256600009
PM 24646670
ER
PT J
AU Huang, HP
Michetti, C
Busnelli, M
Manago, F
Sannino, S
Scheggia, D
Giancardo, L
Sona, D
Murino, V
Chini, B
Scattoni, ML
Papaleo, F
AF Huang, Huiping
Michetti, Caterina
Busnelli, Marta
Manago, Francesca
Sannino, Sara
Scheggia, Diego
Giancardo, Luca
Sona, Diego
Murino, Vittorio
Chini, Bice
Scattoni, Maria Luisa
Papaleo, Francesco
TI Chronic and Acute Intranasal Oxytocin Produce Divergent Social Effects
in Mice
SO NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
DE behavior; oxytocin receptors; social interaction; intranasal treatment;
schizophrenia; autism
ID AUTISM SPECTRUM DISORDERS; PREPULSE INHIBITION; RECOGNITION MEMORY;
NEURAL CIRCUITRY; GENE-EXPRESSION; BRAIN OXYTOCIN; KNOCKOUT MOUSE;
VASOPRESSIN; RECEPTOR; RATS
AB Intranasal administration of oxytocin (OXT) might be a promising new adjunctive therapy for mental disorders characterized by social behavioral alterations such as autism and schizophrenia. Despite promising initial studies in humans, it is not yet clear the specificity of the behavioral effects induced by chronic intranasal OXT and if chronic intranasal OXT could have different effects compared with single administration. This is critical for the aforementioned chronic mental disorders that might potentially involve life-long treatments. As a first step to address these issues, here we report that chronic intranasal OXT treatment in wild-type C57BL/6J adult mice produced a selective reduction of social behaviors concomitant to a reduction of the OXT receptors throughout the brain. Conversely, acute intranasal OXT treatment produced partial increases in social behaviors towards opposite-sex novel-stimulus female mice, while on the other hand, it decreased social exploration of same-sex novel stimulus male mice, without affecting social behavior towards familiar stimulus male mice. Finally, prolonged exposure to intranasal OXT treatments did not alter, in wild-type animals, parameters of general health such as body weight, locomotor activity, olfactory and auditory functions, nor parameters of memory and sensorimotor gating abilities. These results indicate that a prolonged over-stimulation of a 'healthy' oxytocinergic brain system, with no inherent deficits in social interaction and normal endogenous levels of OXT, results in specific detrimental effects in social behaviors.
C1 [Huang, Huiping; Manago, Francesca; Sannino, Sara; Scheggia, Diego; Papaleo, Francesco] Ist Italian Tecnol, Dept Neurosci & Brain Technol, Genoa, Italy.
[Michetti, Caterina] Univ Roma La Sapienza, Dept Physiol & Pharmacol, I-00185 Rome, Italy.
[Michetti, Caterina; Scattoni, Maria Luisa] Ist Super Sanita, Dept Cell Biol & Neurosci, Behav Neurosci Sect, I-00161 Rome, Italy.
[Busnelli, Marta] Univ Milan, Dipartimento Biotecnol Med & Med Traslaz, Milan, Italy.
[Busnelli, Marta; Chini, Bice] CNR, Inst Neurosci, I-20133 Milan, Italy.
[Giancardo, Luca; Sona, Diego; Murino, Vittorio] Ist Italian Tecnol, Genoa, Italy.
[Papaleo, Francesco] Univ Padua, Dipartimento Sci Farmaco, Padua, Italy.
RP Papaleo, F (reprint author), Ist Italian Tecnol, Dept Neurosci & Brain Technol, Genoa, Italy.
EM francesco.papaleo@iit.it
FU Istituto Italiano di Tecnologia; Marie Curie FP7-Reintegration [268247];
Italian Ministry of Health [GR3, GR-2010-2315883]; Telethon Foundation
Grant [GGP12207]
FX This research was supported by the Istituto Italiano di Tecnologia, the
Marie Curie FP7-Reintegration-Grant No 268247, the Italian Ministry of
Health Grants (GR3)-Young Researcher 2008 and GR-2010-2315883, and the
Telethon Foundation Grant (GGP12207). The authors declare no conflict of
interest.
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NR 57
TC 9
Z9 9
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0893-133X
EI 1740-634X
J9 NEUROPSYCHOPHARMACOL
JI Neuropsychopharmacology
PD APR
PY 2014
VL 39
IS 5
BP 1102
EP 1114
DI 10.1038/npp.2013.310
PG 13
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AD0IQ
UT WOS:000332918100007
PM 24190025
ER
PT J
AU Del'Guidice, T
Lemay, F
Lemasson, M
Levasseur-Moreau, J
Manta, S
Etievant, A
Escoffier, G
Dore, FY
Roman, FS
Beaulieu, JM
AF Del'Guidice, Thomas
Lemay, Francis
Lemasson, Morgane
Levasseur-Moreau, Jean
Manta, Stella
Etievant, Adeline
Escoffier, Guy
Dore, Francois Y.
Roman, Francois S.
Beaulieu, Jean-Martin
TI Stimulation of 5-HT2C Receptors Improves Cognitive Deficits Induced by
Human Tryptophan Hydroxylase 2 Loss of Function Mutation
SO NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
DE cognitive flexibility; H-maze; perseveration; R439H-Tph2-KI mouse;
reversal learning; 5-HT2C receptor
ID DELAYED-RESPONSE TASKS; SEROTONIN DEFICIENCY; ANTIPSYCHOTIC ACTIVITY;
PSYCHIATRIC-DISORDERS; VENTRAL HIPPOCAMPUS; ANXIETY DISORDERS; NEONATAL
LESIONS; RATS; MICE; DEPRESSION
AB Polymorphisms in the gene encoding the serotonin synthesis enzyme Tph2 have been identified in mental illnesses, including bipolar disorder, major depression, autism, schizophrenia, and ADHD. Deficits in cognitive flexibility and perseverative behaviors are shared common symptoms in these disorders. However, little is known about the impact of Tph2 gene variants on cognition. Mice expressing a human TPH2 variant (Tph2-KI) were used to investigate cognitive consequences of TPH2 loss of function and pharmacological treatments. We applied a recently developed behavioral assay, the automated H-maze, to study cognitive functions in Tph2-KI mice. This assay involves the consecutive discovery of three different rules: a delayed alternation task, a non-alternation task, and a delayed reversal task. Possible contribution of locomotion, reward, and sensory perception were also investigated. The expression of loss-of-function mutant Tph2 in mice was associated with impairments in reversal learning and cognitive flexibility, accompanied by perseverative behaviors similar to those observed in human clinical studies. Pharmacological restoration of 5-HT synthesis with 5-hydroxytryptophan or treatment with the 5-HT2C receptor agonist CP809.101 reduced cognitive deficits in Tph2-KI mice and abolished perseveration. In contrast, treatment with the psychostimulant methylphenidate exacerbated cognitive deficits in mutant mice. Results from this study suggest a contribution of TPH2 in the regulation of cognition. Furthermore, identification of a role for a 5-HT2 receptor agonist as a cognition-enhancing agent in mutant mice suggests a potential avenue to explore for the personalized treatment of cognitive symptoms in humans with reduced 5-HT synthesis and TPH2 polymorphisms.
C1 [Del'Guidice, Thomas; Lemasson, Morgane; Manta, Stella; Etievant, Adeline; Beaulieu, Jean-Martin] Univ Laval Pavil Ferdinand Vandry, Dept Psychiat & Neurosci, Fac Med, Quebec City, PQ G1J 2G3, Canada.
[Del'Guidice, Thomas; Lemay, Francis; Lemasson, Morgane; Levasseur-Moreau, Jean; Manta, Stella; Etievant, Adeline; Beaulieu, Jean-Martin] Inst Univ Sante Mentale Quebec, Quebec City, PQ, Canada.
[Lemay, Francis; Dore, Francois Y.] Univ Laval Pavil FA Savard, Fac Sci Sociales, Ecole Psychol, Quebec City, PQ, Canada.
[Escoffier, Guy; Roman, Francois S.] Aix Marseille Univ, CNRS, Ctr St Charles, NICN Neurobiol Proc Mnes UMR7259, Marseille, France.
RP Beaulieu, JM (reprint author), Univ Laval Pavil Ferdinand Vandry, Dept Psychiat & Neurosci, Fac Med, 2601 Chemin Canardiere,Suite F-6500, Quebec City, PQ G1J 2G3, Canada.
EM martin.beaulieu@crulrg.ulaval.ca
FU CRCN; Natural Sciences and Engineering Research Council of Canada
(NSERC); Canadian Institute of Health Research (CIHR) [NSA 93798]; NSERC
discovery grant; FRSQ project for innovative strategic development
FX We thank N Bouchard and K Aube for assistance maintaining mice colonies,
and Hugues Dufour for assembling the H-Maze. TD is recipient of
fellowships from the CRCN. FL is supported by a scholarship from the
Natural Sciences and Engineering Research Council of Canada (NSERC). JMB
is NARSAD Vital Projects Fund. investigator and Canada research Chair in
Molecular Psychiatry. This work was supported by a Canadian Institute of
Health Research (CIHR) operating grant (NSA 93798) to JMB, a NSERC
discovery grant to FYD and a FRSQ project for innovative strategic
development.
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NR 53
TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0893-133X
EI 1740-634X
J9 NEUROPSYCHOPHARMACOL
JI Neuropsychopharmacology
PD APR
PY 2014
VL 39
IS 5
BP 1125
EP 1134
DI 10.1038/npp.2013.313
PG 10
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AD0IQ
UT WOS:000332918100009
PM 24196946
ER
PT J
AU Born, G
Breuer, D
Wang, SP
Rohlmann, A
Coulon, P
Vakili, P
Reissner, C
Kiefer, F
Heine, M
Pape, HC
Missler, M
AF Born, Gesche
Breuer, Dorothee
Wang, Shaopeng
Rohlmann, Astrid
Coulon, Philippe
Vakili, Puja
Reissner, Carsten
Kiefer, Friedemann
Heine, Martin
Pape, Hans-Christian
Missler, Markus
TI Modulation of synaptic function through the alpha-neurexin-specific
ligand neurexophilin-1
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE synaptic transmission; thalamus; autism; neuroligin; ultrastructure
ID THALAMIC RETICULAR NUCLEUS; INHIBITORY SYNAPSES; GABA(A) RECEPTORS;
BETA-NEUREXINS; TRANSSYNAPTIC INTERACTION; CELLULAR-DISTRIBUTION;
HIPPOCAMPAL SYNAPSES; OSCILLATORY ACTIVITY; TRANSMITTER RELEASE;
LATROTOXIN RECEPTOR
AB Neurotransmission at different synapses is highly variable, and cell-adhesion molecules like alpha-neurexins (alpha-Nrxn) and their extracellular binding partners determine synapse function. Although alpha-Nrxn affect transmission at excitatory and inhibitory synapses, the contribution of neurexophilin-1 (Nxph1), an a-Nrxn ligand with restricted expression in subpopulations of inhibitory neurons, is unclear. To reveal its role, we investigated mice that either lack or overexpress Nxph1. We found that genetic deletion of Nxph1 impaired GABA(B) receptor (GABA(B)R)-dependent short-term depression of inhibitory synapses in the nucleus reticularis thalami, a region where Nxph1 is normally expressed at high levels. To test the conclusion that Nxph1 supports presynaptic GABA(B)R, we expressed Nxph1 ectopically at excitatory terminals in the neocortex, which normally do not contain this molecule but can be modulated by GABA(B)R. We generated Nxph1-GFP transgenic mice under control of the Thy1.2 promoter and observed a reduced short-term facilitation at these excitatory synapses, representing an inverse phenotype to the knockout. Consistently, the diminished facilitation could be reversed by pharmacologically blocking GABA(B)R with CGP-55845. Moreover, a complete rescue was achieved by additional blocking of postsynaptic GABA(A)R with intracellular picrotoxin or gabazine, suggesting that Nxph1 is able to recruit or stabilize both presynaptic GABA(B)R and postsynaptic GABA(A)R. In support, immunoelectron microscopy validated the localization of ectopic Nxph1 at the synaptic cleft of excitatory synapses in transgenic mice and revealed an enrichment of GABA(A)R and GABA(B)R subunits compared with wild-type animals. Thus, our data propose that Nxph1 plays an instructive role in synaptic short-term plasticity and the configuration with GABA receptors.
C1 [Born, Gesche; Breuer, Dorothee; Wang, Shaopeng; Rohlmann, Astrid; Vakili, Puja; Reissner, Carsten; Missler, Markus] Univ Munster, Inst Anat & Mol Neurobiol, D-48149 Munster, Germany.
[Coulon, Philippe; Pape, Hans-Christian] Univ Munster, Inst Physiol 1, D-48149 Munster, Germany.
[Kiefer, Friedemann] Max Planck Inst Mol Biomed, Mammalian Cell Signalling Lab, D-48149 Munster, Germany.
[Heine, Martin] Leibniz Inst Neurobiol, Mol Physiol Grp, D-39118 Magdeburg, Germany.
RP Missler, M (reprint author), Univ Munster, Inst Anat & Mol Neurobiol, D-48149 Munster, Germany.
EM markus.missler@uni-muenster.de
FU Deutsche Forschungsgemeinschaft [SFB 629-TPB11, SFB/TRR58-TPA03];
Cells-in-Motion Cluster of Excellence [EXC 1003]; Interdisziplinares
Zentrum fur Klinische Forschung Monster Mi [3/025/08]; Graduate School
Cell Dynamics and Disease
FX We thank G. Szabo (KOKI) for the kind gift of GAD65_GFP mice, K.
Kerkhoff and D. Aschhoff for excellent technical assistance, K.
Piechotta for help with molecular cloning during early stages of the
project, and members of our laboratories for discussion. This work was
supported by Deutsche Forschungsgemeinschaft Grant SFB 629-TPB11 (to M.
M.) and Grant SFB/TRR58-TPA03 (to H.-C. P.), Cells-in-Motion Cluster of
Excellence (EXC 1003 to M. M., H.-C. P., and F. K.), and the
Interdisziplinares Zentrum fur Klinische Forschung Monster Mi 3/025/08
(to M. M.). S. W. is recipient of a fellowship by the Graduate School
Cell Dynamics and Disease.
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NR 83
TC 2
Z9 2
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD APR 1
PY 2014
VL 111
IS 13
BP E1274
EP E1283
DI 10.1073/pnas.1312112111
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AD9IX
UT WOS:000333579700019
PM 24639499
ER
PT J
AU Treutlein, B
Gokce, O
Quake, SR
Sudhof, TC
AF Treutlein, Barbara
Gokce, Ozgun
Quake, Stephen R.
Suedhof, Thomas C.
TI Cartography of neurexin alternative splicing mapped by single-molecule
long-read mRNA sequencing
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE schizophrenia; neuroligin; cerebellin; LRRTM; autism
ID EXCITATORY SYNAPSE FORMATION; CELL-SURFACE PROTEINS; BETA-NEUREXINS;
ALPHA-NEUREXINS; ADHESION; RECEPTOR; BINDING; COMPLEX; LIGAND; GENES
AB Neurexins are evolutionarily conserved presynaptic cell-adhesion molecules that are essential for normal synapse formation and synaptic transmission. Indirect evidence has indicated that extensive alternative splicing of neurexin mRNAs may produce hundreds if not thousands of neurexin isoforms, but no direct evidence for such diversity has been available. Here we use unbiased long-read sequencing of full-length neurexin (Nrxn)1 alpha, Nrxn1 beta, Nrxn2 beta, Nrxn3 alpha, and Nrxn3 beta mRNAs to systematically assess how many sites of alternative splicing are used in neurexins with a significant frequency, and whether alternative splicing events at these sites are independent of each other. In sequencing more than 25,000 full-length mRNAs, we identified a novel, abundantly used alternatively spliced exon of Nrxn1 alpha and Nrxn3 alpha (referred to as alternatively spliced sequence 6) that encodes a 9-residue insertion in the flexible hinge region between the fifth LNS (laminin-alpha, neurexin, sex hormone-binding globulin) domain and the third EGF-like sequence. In addition, we observed several larger-scale events of alternative splicing that deleted multiple domains and were much less frequent than the canonical six sites of alternative splicing in neurexins. All of the six canonical events of alternative splicing appear to be independent of each other, suggesting that neurexins may exhibit an even larger isoform diversity than previously envisioned and comprise thousands of variants. Our data are consistent with the notion that alpha-neurexins represent extracellular protein-interaction scaffolds in which different LNS and EGF domains mediate distinct interactions that affect diverse functions and are independently regulated by independent events of alternative splicing.
C1 [Treutlein, Barbara; Quake, Stephen R.] Stanford Univ, Dept Bioengn, Sch Med, Stanford, CA 94305 USA.
[Gokce, Ozgun; Suedhof, Thomas C.] Stanford Univ, Dept Mol & Cellular Physiol, Sch Med, Stanford, CA 94305 USA.
[Treutlein, Barbara; Quake, Stephen R.] Stanford Univ, Dept Appl Phys, Stanford, CA 94305 USA.
[Quake, Stephen R.; Suedhof, Thomas C.] Stanford Univ, Howard Hughes Med Inst, Stanford, CA 94305 USA.
RP Quake, SR (reprint author), Stanford Univ, Dept Bioengn, Sch Med, Stanford, CA 94305 USA.
EM quake@stanford.edu; tcs1@stanford.edu
FU National Institute of Mental Health [R37 MH052804]; National Institute
of Neurological Disorders and Stroke [R01 NS077906]
FX We thank Jody Puglisi for sharing equipment. This study was supported by
Grants R37 MH052804 from the National Institute of Mental Health and R01
NS077906 from the National Institute of Neurological Disorders and
Stroke (to T.C.S.).
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NR 43
TC 13
Z9 14
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD APR 1
PY 2014
VL 111
IS 13
BP E1291
EP E1299
DI 10.1073/pnas.1403244111
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AD9IX
UT WOS:000333579700021
PM 24639501
ER
PT J
AU Qiao, J
Gao, J
Shu, Q
Zhang, QL
Hu, G
Li, M
AF Qiao, Jing
Gao, Jun
Shu, Qing
Zhang, Qinglin
Hu, Gang
Li, Ming
TI Long-lasting sensitization induced by repeated risperidone treatment in
adolescent Sprague-Dawley rats: a possible D-2 receptor mediated
phenomenon?
SO PSYCHOPHARMACOLOGY
LA English
DT Article
DE Risperidone; Conditioned avoidance response; Quinpirole; 22 kHz
ultrasonic vocalization; Phencyclidine; Motor activity; Prepulse
inhibition; Adolescence; Sensitization
ID PHENCYCLIDINE-INDUCED HYPERLOCOMOTION; AVOIDANCE-RESPONSE MODEL;
ANTIPSYCHOTIC-DRUGS; ANIMAL-MODELS; AGONIST QUINPIROLE; TIME-COURSE;
OLANZAPINE; CHILDREN; AMPHETAMINE; HALOPERIDOL
AB Risperidone use in children and adolescents for the treatment of various neuropsychiatric disorders (e.g., schizophrenia, autism, disruptive behavior, etc.) has increased substantially in recent decades. However, its long-term effect on the brain and behavioral functions is not well understood.
The present study investigated how a short-term risperidone treatment in adolescence impacts antipsychotic response in adulthood in the conditioned avoidance response and phencyclidine (PCP)-induced hyperlocomotion tests.
Male adolescent Sprague-Dawley rats (postnatal days [P] 40-44 or 43-48) were first treated with risperidone (0.3, 0.5, or 1.0 mg/kg, subcutaneously (sc)) and tested in the conditioned avoidance or PCP (3.2 mg/kg, sc)-induced hyperlocomotion model daily for five consecutive days. After they became adults (similar to P 76-80), they were challenged with risperidone (0.3 mg/kg, sc) to assess their sensitivity to risperidone reexposure. A quinpirole (a D-2/3 receptor agonist, 1.0 mg/kg, sc)-induced hyperlocomotion test was later conducted to assess the risperidone-induced functional changes in D-2 receptor.
In the risperidone challenge test in adulthood, adult rats previously treated with risperidone in adolescence made significantly fewer avoidance responses and exhibited significantly lower PCP-induced hyperlocomotion than those previously treated with vehicle. They also appeared to be more hyperactive than the vehicle-pretreated ones in the quinpirole-induced hyperlocomotion test. Prepulse inhibition of acoustic startle or fear-induced 22 kHz ultrasonic vocalizations in adulthood was not altered by adolescence risperidone treatment.
Adolescent risperidone exposure induces a long-term increase in behavioral sensitivity to risperidone that persists into adulthood. This long-lasting change might be due to functional upregulation of D-2-mediated neurotransmission.
C1 [Qiao, Jing; Zhang, Qinglin] Southwest Univ, Inst Psychol, Minist Educ, Key Lab Cognit & Personal, Chongqing, Peoples R China.
[Shu, Qing; Hu, Gang] Nanjing Med Univ, Dept Pharmacol, Jiangsu Key Lab Neurodegenerat, Nanjing, Jiangsu, Peoples R China.
[Qiao, Jing; Gao, Jun; Shu, Qing; Li, Ming] Univ Nebraska, Dept Psychol, Lincoln, NE 68588 USA.
RP Li, M (reprint author), Univ Nebraska, Dept Psychol, 238 Burnett Hall, Lincoln, NE 68588 USA.
EM mli2@unl.edu
FU Key Laboratory of Cognition and Personality and Institute of Psychology
at Southwest University, China; National Institute of Mental Health
[R01MH085635]
FX Professor Ming Li was supported by a visiting professorship grant from
the Key Laboratory of Cognition and Personality and Institute of
Psychology at Southwest University, China and by National Institute of
Mental Health grant R01MH085635.
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NR 47
TC 2
Z9 2
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0033-3158
EI 1432-2072
J9 PSYCHOPHARMACOLOGY
JI Psychopharmacology
PD APR
PY 2014
VL 231
IS 8
BP 1649
EP 1659
DI 10.1007/s00213-013-3386-0
PG 11
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AD8MX
UT WOS:000333521400017
PM 24363078
ER
PT J
AU Cook, JL
Rapp, JT
Gomes, LA
Frazer, TJ
Lindblad, TL
AF Cook, Jennifer L.
Rapp, John T.
Gomes, Lindsey A.
Frazer, Tammy J.
Lindblad, Tracie L.
TI EFFECTS OF VERBAL REPRIMANDS ON TARGETED AND UNTARGETED STEREOTYPY
SO BEHAVIORAL INTERVENTIONS
LA English
DT Article
ID VOCAL STEREOTYPY; STIMULUS-CONTROL; DEVELOPMENTAL-DISABILITIES;
FUNCTIONAL-ANALYSIS; PROBLEM BEHAVIOR; YOUNG-CHILDREN; AUTISM;
INTERVENTION; STIMULATION; EVENTS
AB Results of brief functional analyses indicated that motor and vocal stereotypy persisted in the absence of social consequences for five participants diagnosed with autism spectrum disorder (ASD). Subsequently, effects of a stimulus control procedure involving contingent reprimands for each participant's higher probability (targeted) stereotypy were evaluated. Results indicated that contingent verbal reprimands (i) decreased the targeted stereotypy for all five participants, (ii) decreased the untargeted stereotypy for two of five participants, and (iii) increased the untargeted stereotypy for one of five participants. Although response suppression was not achieved for any participant, three participants maintained low levels of the target stereotypy with one or two reprimands during 5-min sessions. Furthermore, two of those participants maintained near-zero levels of motor and vocal stereotypy during 10-min sessions. These findings suggest that signaled verbal reprimands may be a practical intervention for reducing stereotypy in some children with ASD. Some limitations of the findings and areas of future research are briefly discussed. Copyright (c) 2014 John Wiley & Sons, Ltd.
C1 [Cook, Jennifer L.] St Cloud State Univ, St Cloud, MN 56301 USA.
[Rapp, John T.] Auburn Univ, Dept Psychol, Auburn, AL 36849 USA.
[Gomes, Lindsey A.; Frazer, Tammy J.; Lindblad, Tracie L.] Four Point Intervent Strategies Inc, Mississauga, ON L5L 5Y6, Canada.
RP Rapp, JT (reprint author), Auburn Univ, Dept Psychol, 226 Thach, Auburn, AL 36849 USA.
EM jtr0014@auburn.edu
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NR 31
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1072-0847
EI 1099-078X
J9 BEHAV INTERVENT
JI Behav. Intervent.
PD APR
PY 2014
VL 29
IS 2
BP 106
EP 124
DI 10.1002/bin.1378
PG 19
WC Psychology, Clinical
SC Psychology
GA AE0ZE
UT WOS:000333694100002
ER
PT J
AU King, B
Radley, KC
Jenson, WR
Clark, E
O'Neill, RE
AF King, Brian
Radley, Keith C.
Jenson, William R.
Clark, Elaine
O'Neill, Robert E.
TI UTILIZATION OF VIDEO MODELING COMBINED WITH SELF-MONITORING TO INCREASE
RATES OF ON-TASK BEHAVIOR
SO BEHAVIORAL INTERVENTIONS
LA English
DT Article
ID CLASSROOM INTERVENTIONS; LEARNING-DISABILITIES; IN-VIVO; CHILDREN;
ACCEPTABILITY; ENGAGEMENT; STUDENTS; AUTISM; ADOLESCENTS; ACHIEVEMENT
AB The study investigated the effectiveness of an intervention package consisting of self-monitoring and video modeling to increase on-task behavior during independent seatwork time in math. Four students in either the second or third grade, identified as displaying high rates of off-task behavior by their classroom teacher, were included in the study. Results showed immediate, large, and durable changes in on-task behavior for each of the four participants. At baseline, on-task behavior of the participants while working on independent math assignments was displayed in 47% of the intervals observed. During the intervention, the participants' average rate of on-task behavior increased to 85% of the intervals observed. Mean Busk and Serlin (1994) effect size for all four participants was 5.60, with a percentage of non-overlapping data points effect size of 100%. Observations of the participants 3 weeks following the termination of the study showed that the gains in on-task behavior were maintained. Both teacher and participant feedbacks concerning the use and effectiveness of the intervention package were positive. Results of the investigation suggest that the intervention package may be an effective and socially valid method for addressing off-task behaviors of students within the classroom. Copyright (c) 2014 John Wiley & Sons, Ltd.
C1 [King, Brian; Jenson, William R.; Clark, Elaine] Univ Utah, Dept Educ Psychol, Salt Lake City, UT 84112 USA.
[O'Neill, Robert E.] Univ Utah, Dept Special Educ, Salt Lake City, UT 84112 USA.
[Radley, Keith C.] Univ So Mississippi, Dept Psychol, Hattiesburg, MS 39406 USA.
RP Radley, KC (reprint author), Univ So Mississippi, Dept Psychol, 118 Coll Dr 5025, Hattiesburg, MS 39406 USA.
EM keith.radley@usm.edu
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NR 50
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1072-0847
EI 1099-078X
J9 BEHAV INTERVENT
JI Behav. Intervent.
PD APR
PY 2014
VL 29
IS 2
BP 125
EP 144
DI 10.1002/bin.1379
PG 20
WC Psychology, Clinical
SC Psychology
GA AE0ZE
UT WOS:000333694100003
ER
PT J
AU Taylor-Santa, C
Sidener, TM
Carr, JE
Reeve, KF
AF Taylor-Santa, Catherine
Sidener, Tina M.
Carr, James E.
Reeve, Kenneth F.
TI A DISCRIMINATION TRAINING PROCEDURE TO ESTABLISH CONDITIONED REINFORCERS
FOR CHILDREN WITH AUTISM
SO BEHAVIORAL INTERVENTIONS
LA English
DT Article
ID SECONDARY REINFORCEMENT; PREFERENCES; DISABILITIES; BEHAVIOR
AB Although conditioned reinforcers are used in many behavioral intervention programs for individuals with developmental disabilities, little research has been conducted to determine optimal methods for establishing conditioned reinforcers. An early method that has received relatively little research attention is to condition a neutral stimulus as a discriminative stimulus and then use the stimulus as a programed consequence during skill acquisition. The current study evaluated the effects of a discrimination training procedure on establishing conditioned reinforcers for three children with autism. For all participants, previously neutral stimuli reinforced behaviors after acquiring discriminative properties during discrimination training. Copyright (c) 2014 John Wiley & Sons, Ltd.
C1 [Taylor-Santa, Catherine; Sidener, Tina M.; Reeve, Kenneth F.] Caldwell Coll, Dept Appl Behav Anal, Caldwell, NJ 07006 USA.
[Carr, James E.] Behav Analyst Certificat Board, Littleton, CO 80127 USA.
RP Sidener, TM (reprint author), Caldwell Coll, Dept Appl Behav Anal, 120 Bloomfield Ave, Caldwell, NJ 07006 USA.
EM tsidener@caldwell.edu
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NR 32
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1072-0847
EI 1099-078X
J9 BEHAV INTERVENT
JI Behav. Intervent.
PD APR
PY 2014
VL 29
IS 2
BP 157
EP 176
DI 10.1002/bin.1384
PG 20
WC Psychology, Clinical
SC Psychology
GA AE0ZE
UT WOS:000333694100005
ER
PT J
AU Kappil, M
Chen, J
AF Kappil, Maya
Chen, Jia
TI Environmental exposures in utero and microRNA
SO CURRENT OPINION IN PEDIATRICS
LA English
DT Review
DE endogenous exposures; in-utero exposures; miRNA; nutrition;
xenochemicals
ID TRANSMEMBRANE CONDUCTANCE REGULATOR; ACUTE LYMPHOBLASTIC-LEUKEMIA;
CONGENITAL HEART-DISEASE; ETHANOL EXPOSURE; CHINESE POPULATION;
EXPRESSION PROFILE; MIRNA EXPRESSION; RNA-INTERFERENCE;
EPITHELIAL-CELLS; AUTISM SPECTRUM
AB Purpose of reviewUnderstanding the effects of in-utero exposures to environmental agents is of great importance as the resulting deregulation of biological processes can affect both fetal development and health outcomes that manifest later in life. Due to their established role in developmental processes and inherent stability ex vivo, microRNAs (miRNAs) have emerged as attractive candidates to explore the impact of such exposures during this critical window of susceptibility. In this review, we summarize the findings of studies assessing miRNAs as markers of in-utero environmental exposures and as candidates for the molecular basis through which these exposures exert their influence on children's health.Recent findingsTo date, miRNA expression profiles due to various in-utero environmental exposures, including xenochemicals, endogenous factors, and nutritional status, have been reported.SummaryWhile the validity of the identified exposure-specific miRNA profiles remains to be established, the findings thus far do raise interesting questions worth addressing in future studies. Gaps that remain to be addressed include linking specific in-utero exposures to subsequent health outcomes based on established miRNA expression profiles and experimentally validating putative downstream targets of the deregulated miRNAs.
C1 [Kappil, Maya; Chen, Jia] Mt Sinai Sch Med, Dept Prevent Med, New York, NY 10029 USA.
[Chen, Jia] Mt Sinai Sch Med, Dept Pediat, New York, NY 10029 USA.
[Chen, Jia] Mt Sinai Sch Med, Dept Oncol Sci, New York, NY 10029 USA.
[Chen, Jia] Mt Sinai Sch Med, Dept Med Hematol & Med Oncol, New York, NY 10029 USA.
RP Chen, J (reprint author), Mt Sinai Sch Med, Dept Prevent Med, 1468 Madison Ave, New York, NY 10029 USA.
EM jia.chen@mssm.edu
FU National Institutes of Health [R01 CA172460,
R01HD067611/R01ES022223-01A1, U01 ES019451]; Mount Sinai Children's
Environmental Health Center Pilot Fund
FX This work was supported by grants from the National Institutes of Health
(R01 CA172460, R01HD067611/R01ES022223-01A1, U01 ES019451) and Mount
Sinai Children's Environmental Health Center Pilot Fund.
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NR 58
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 1040-8703
EI 1531-698X
J9 CURR OPIN PEDIATR
JI CURR. OPIN. PEDIATR.
PD APR
PY 2014
VL 26
IS 2
BP 243
EP 251
DI 10.1097/MOP.0000000000000073
PG 9
WC Pediatrics
SC Pediatrics
GA AD5JT
UT WOS:000333289400018
PM 24632543
ER
PT J
AU Tierney, CD
Kurtz, M
Panchik, A
Pitterle, K
AF Tierney, Cheryl D.
Kurtz, Marie
Panchik, Ann
Pitterle, Kathleen
TI 'Look at me when I am talking to you': evidence and assessment of social
pragmatics interventions for children with autism and social
communication disorders
SO CURRENT OPINION IN PEDIATRICS
LA English
DT Review
DE alternative augmentative communication; autism; social skills groups;
social stories; video modeling
ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; MIDDLE SCHOOL; STUDENTS;
SKILLS; VIDEO; IMPLEMENTATION; PRESCHOOLERS; DISABILITIES; CLASSROOM
AB Purpose of reviewThis article provides an analysis of the effectiveness of commonly used interventions for social pragmatic interventions for children with autism spectrum disorder (ASD) and social communication disorders.Recent findingsSeveral evidence-based social skills interventions are emerging, including peer mentoring, social skills groups, and video modeling. Social stories are effective as supports for improved interactions but generalization is limited. Research supports the need for multimodality and individualized treatment programs. Research validates that video and visual learning is highly effective with children with ASD when utilized with specific, appropriate targets. Multiple studies have shown that picture-based communication systems are effective at improving functional communication with moderate effects on social communication. Despite limitations in research, there is strong evidence in the existing literature for the role of alternative augmentative communication in improving both functional and social communication.SummarySocial pragmatic interventions when individualized are effective for improving language, adaptive behavior and social skills.
C1 [Tierney, Cheryl D.] Penn State Hershey Childrens Hosp, Div Pediat Rehabil & Dev, Hershey, PA 17033 USA.
[Kurtz, Marie; Pitterle, Kathleen] Penn State Hershey Childrens Hosp, Hershey, PA 17033 USA.
[Panchik, Ann] Lower Dauphin Sch Dist, South Hanover Elementary Sch, Hummelstown, PA USA.
RP Tierney, CD (reprint author), Penn State Hershey Childrens Hosp, Sect Chief Behav & Dev Pediat, Div Pediat Rehabil & Dev, 500 Univ Dr,H085, Hershey, PA 17033 USA.
EM ctierney@hmc.psu.edu
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NR 38
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 1040-8703
EI 1531-698X
J9 CURR OPIN PEDIATR
JI CURR. OPIN. PEDIATR.
PD APR
PY 2014
VL 26
IS 2
BP 259
EP 264
DI 10.1097/MOP.0000000000000075
PG 6
WC Pediatrics
SC Pediatrics
GA AD5JT
UT WOS:000333289400020
PM 24535501
ER
PT J
AU Mytton, J
Ingram, J
Manns, S
Thomas, J
AF Mytton, Julie
Ingram, Jenny
Manns, Sarah
Thomas, James
TI Facilitators and Barriers to Engagement in Parenting Programs A
Qualitative Systematic Review
SO HEALTH EDUCATION & BEHAVIOR
LA English
DT Review
DE parenting; evaluation; qualitative methods; family health; child health
ID INTERVENTION PROGRAM; BEHAVIORAL-PROBLEMS; PRESCHOOL-CHILDREN; TRIPLE-P;
PARTICIPATION; PREVENTION; SKILLS; PERSPECTIVES; AUTISM
AB Parenting programs have the potential to improve the health and well-being of parents and children. A challenge for providers is to recruit and retain parents in programs. Studies researching engagement with programs have largely focused on providers', policy makers', or researchers' reflections of their experience of parents' participation. We conducted a systematic review of qualitative studies where parents had been asked why they did or did not choose to commence, or complete programs, and compared these perceptions with those of researchers and those delivering programs. We used data-mining techniques to identify relevant studies and summarized findings using framework synthesis methods. Six facilitator and five barrier themes were identified as important influences on participation, with a total of 33 subthemes. Participants focused on the opportunity to learn new skills, working with trusted people, in a setting that was convenient in time and place. Researchers and deliverers focused on tailoring the program to individuals and on the training of staff. Participants and researchers/deliverers therefore differ in their opinions of the most important features of programs that act as facilitators and barriers to engagement and retention. Program developers need to seek the views of both participants and deliverers when evaluating programs.
C1 [Mytton, Julie; Manns, Sarah] Univ W England, Bristol BS16 1QY, Avon, England.
[Ingram, Jenny] Univ Bristol, Bristol, Avon, England.
[Thomas, James] Univ London, Inst Educ, London WC1N 1AZ, England.
RP Mytton, J (reprint author), Ctr Child & Adolescent Hlth, Oakfield House, Bristol BS8 2BN, Avon, England.
EM Julie.Mytton@uwe.ac.uk
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NR 56
TC 2
Z9 2
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1090-1981
EI 1552-6127
J9 HEALTH EDUC BEHAV
JI Health Educ. Behav.
PD APR
PY 2014
VL 41
IS 2
BP 127
EP 137
DI 10.1177/1090198113485755
PG 11
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AC9FY
UT WOS:000332841000002
PM 23640123
ER
PT J
AU Roizen, NJ
Magyar, CI
Kuschner, ES
Sulkes, SB
Druschel, C
van Wijngaarden, E
Rodgers, L
Diehl, A
Lowry, R
Hyman, SL
AF Roizen, Nancy J.
Magyar, Caroline I.
Kuschner, Emily S.
Sulkes, Steven B.
Druschel, Charlotte
van Wijngaarden, Edwin
Rodgers, Lisa
Diehl, Alison
Lowry, Richard
Hyman, Susan L.
TI A Community Cross-Sectional Survey of Medical Problems in 440 Children
with Down Syndrome in New York State
SO JOURNAL OF PEDIATRICS
LA English
DT Article
ID HEALTH SUPERVISION; BIRTH-DEFECTS; PREVALENCE; AUTISM; QUESTIONNAIRE;
ABNORMALITIES; DISORDERS
AB Objective To determine the frequency of medical problems in a large population of children with Down syndrome.
Study design Study population included 440 children with Down syndrome (ages 3-14 years) identified primarily through the New York Congenital Malformations Registry. Parents completed questionnaires on medical problems.
Results Our study population was predominately White (92.3%), non-Hispanic (72.3%) with at least 1 college educated parent (72.3%). The prevalence of medical problems was as follows: heart disease (55%), hearing problem (39%), vision problem (39%), thyroid disease (27%), celiac disease (5%), alopecia (5%), seizures (7%), asthma/reactive airway disease (32%), diabetes (1%), and juvenile rheumatoid arthritis (0.2%). Of the children with heart disease, 58% needed surgery at a mean age of 9 months. Of the children with hearing loss, 29% were identified on newborn screening and 13% used an amplification device. Of the children with thyroid disease, 31% were diagnosed in the newborn period. Only 7% of these children with Down syndrome had no medical problem listed.
Conclusion Prevalence data of medical illnesses in a large population of children with Down syndrome provide us with data to support implementation of the American Academy of Pediatrics guidelines for health supervision for children with Down syndrome. The long-term health implications of the conditions we surveyed will be important for decreasing morbidity and increasing overall health and wellness into adulthood.
C1 [Roizen, Nancy J.] Case Western Reserve Univ, Sch Med, Dept Pediat, Cleveland, OH 44106 USA.
[Magyar, Caroline I.; Sulkes, Steven B.; Rodgers, Lisa; Diehl, Alison; Hyman, Susan L.] Univ Rochester, Sch Med, Dept Pediat, Rochester, NY 14642 USA.
[Kuschner, Emily S.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
[Druschel, Charlotte] New York State Dept Hlth, New York Congenital Malformat Registry, Albany, NY USA.
[Druschel, Charlotte] Univ Albany, Sch Publ Hlth, Rensselaer, NY USA.
[van Wijngaarden, Edwin] Univ Rochester, Sch Med, Dept Publ Hlth, Rochester, NY USA.
[Lowry, Richard] Vassar Coll, Dept Psychol, Poughkeepsie, NY 12601 USA.
RP Roizen, NJ (reprint author), Case Western Reserve Univ, Sch Med, Dept Pediat, Cleveland, OH 44106 USA.
FU National Center on Birth Defects and Developmental Disabilities and
Centers for Disease Control and Prevention [RT01 2005-I/2-18,
U59/CCU321285]
FX Supported by the National Center on Birth Defects and Developmental
Disabilities and Centers for Disease Control and Prevention (cooperative
agreements RT01 2005-I/2-18 and U59/CCU321285). The authors declare no
conflict of interest.
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NR 22
TC 1
Z9 1
PU MOSBY-ELSEVIER
PI NEW YORK
PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0022-3476
EI 1097-6833
J9 J PEDIATR-US
JI J. Pediatr.
PD APR
PY 2014
VL 164
IS 4
BP 871
EP 875
DI 10.1016/j.jpeds.2013.11.032
PG 5
WC Pediatrics
SC Pediatrics
GA AD4YV
UT WOS:000333258900041
PM 24367984
ER
PT J
AU El Hokayem, J
Nawaz, Z
AF El Hokayem, Jimmy
Nawaz, Zafar
TI E6AP in the Brain: One Protein, Dual Function, Multiple Diseases
SO MOLECULAR NEUROBIOLOGY
LA English
DT Review
DE E6AP; UBE3A; Nuclear hormone receptors; Ubiquitin ligase;
Transcriptional coactivator; Brain; Angelman syndrome; Autism; Aging
ID HUMAN-PAPILLOMAVIRUS E6; STEROID-RECEPTOR COACTIVATOR;
MENTAL-RETARDATION SYNDROME; UBIQUITIN LIGASE E6-AP; ANGELMAN-SYNDROME;
MOUSE MODEL; E6-ASSOCIATED PROTEIN; RETT-SYNDROME; PROTEASOMAL
DEGRADATION; ALPHA-SYNUCLEIN
AB E6-Associated Protein (E6AP), the founding member of the HECT (Homologus to E6AP C terminus) family of ubiquitin ligases, has been gaining increased attention from the scientific community. In addition to its ubiquitin ligase function, our laboratory has also identified steroid hormone receptor transcriptional coactivation as yet another essential function of this protein. Furthermore, it has been established that E6AP has a role in numerous diseases including cancers and neurological syndromes. In this review, we delineate genetic and biochemical knowledge of E6AP and we focus on its role in the pathobiology of neuro-developmental and neuro-aging diseases; bringing to light important gaps of knowledge related to the involvement of its well-studied ligase function versus the much less studied nuclear receptor transcriptional coactivation function in the pathogenesis of these diseases. Tackling these gaps of knowledge could reveal novel possible neuro-pathobiological mechanisms and present crucial information for the design of effective treatment modalities for devastating CNS diseases.
C1 [El Hokayem, Jimmy; Nawaz, Zafar] Univ Miami, Miller Sch Med, Dept Biochem & Mol Biol, Miami, FL 33136 USA.
[Nawaz, Zafar] Univ Miami, Miller Sch Med, Braman Family Breast Canc Inst, Sylvester Comprehens Canc Ctr, Miami, FL 33136 USA.
RP Nawaz, Z (reprint author), Univ Miami, Miller Sch Med, Braman Family Breast Canc Inst, Sylvester Comprehens Canc Ctr, BRB Bldg,Room 723 C-227,1501 NW 10th Ave, Miami, FL 33136 USA.
EM znawaz@med.miami.edu
FU Lois Pope LIFE Fellows Program; Foundation for Angelman Syndrome
Therapeutics (FAST)
FX Jimmy El Hokayem is supported by the Lois Pope LIFE Fellows Program.
This work is supported by a grant from the Foundation for Angelman
Syndrome Therapeutics (FAST).
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NR 117
TC 1
Z9 1
PU HUMANA PRESS INC
PI TOTOWA
PA 999 RIVERVIEW DRIVE SUITE 208, TOTOWA, NJ 07512 USA
SN 0893-7648
EI 1559-1182
J9 MOL NEUROBIOL
JI Mol. Neurobiol.
PD APR
PY 2014
VL 49
IS 2
BP 827
EP 839
DI 10.1007/s12035-013-8563-y
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AD0VX
UT WOS:000332953400017
PM 24091829
ER
PT J
AU Moyal, WN
Lord, C
Walkup, JT
AF Moyal, Wendy N.
Lord, Catherine
Walkup, John T.
TI Quality of Life in Children and Adolescents with Autism Spectrum
Disorders: What Is Known About the Effects of Pharmacotherapy?
SO PEDIATRIC DRUGS
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; SERIOUS BEHAVIORAL-PROBLEMS;
HIGH-FUNCTIONING AUTISM; PSYCHOMETRIC PROPERTIES; ASPERGER-SYNDROME;
OPEN-LABEL; TRIAL; ARIPIPRAZOLE; IRRITABILITY; RISPERIDONE
AB A diagnosis of autistic spectrum disorder (ASD), now estimated to affect one in 88 children, requires deficits in social communication and interactions, and restricted interests and/or repetitive behaviors. Almost all children with ASD have deficits in adaptive skills, many have intellectual disability, and others have co-occurring psychiatric disorders or symptoms. Thus, this complex disorder has shown to have a substantial impact on patients' quality of life (QoL) and that of their families. Medication treatment is considered by clinicians and families to address problems with functioning due to psychiatric problems, and, as such, one-third of children and adolescents with ASD take at least one psychotropic medication and many use complementary and alternative medicine. This paper reviews what is known about the benefits and risks of psychotropic medications on the QoL of children with ASD. Although scarce, there are studies of psychiatric medications in autistic patients that include QoL measures, such as the pediatric studies of aripiprazole for irritability and one adult study of oxytocin. The aripiprazole study showed a positive effect on QoL in treated patients, as did the oxytocin study. Several other psychotropic medications are used in the treatment of children with ASD, and although information is available on the risks and benefits of each, we do not have specific data on the QoL impact of these medications. The aripiprazole and oxytocin studies exemplify how researchers can include QoL measures and use this information to guide clinicians. Additionally, we will recommend areas of further study in pharmacotherapy and QoL research in the context of treating children with ASD.
C1 [Moyal, Wendy N.; Lord, Catherine; Walkup, John T.] Weill Cornell Med Coll, Dept Psychiat, New York, NY USA.
[Lord, Catherine] NY Presbyterian Hosp, Ctr Autism & Dev Brain, Weill Cornell Med Coll, White Plains, NY 10605 USA.
RP Lord, C (reprint author), NY Presbyterian Hosp, Ctr Autism & Dev Brain, Weill Cornell Med Coll, 21 Bloomingdale Rd Bard House, White Plains, NY 10605 USA.
EM cal2028@med.cornell.edu
FU NIMH; Tourette Syndrome Association; Center for Disease Control
FX Dr. Lord receives royalties from Western Psychological Services. Dr.
Walkup has received free medications and matching placebo for
NIMH-funded studies involving Lily and Pfizer and is currently authoring
papers on NIMH-funded studies for which he received free medication from
Abbott. He has consulted to Shire once regarding a research study. Dr.
Walkup has received research grants, Speaker Bureau Honoraria and travel
support from the Tourette Syndrome Association for talks funded by the
Center for Disease Control. He has also received royalties for books on
Tourette Syndrome from Oxford and Guilford Press. Dr. Walkup is an
unpaid member of the following medical or Scientific Advisory Boards:
Tourette Syndrome Association, Anxiety Disorders Association of America,
and the Trichotillomania Learning Center. Dr Moyal has no conflicts of
interest. No sources of funding were used to assist with the preparation
of this review.
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Williams K, 2010, COCHRANE DB SYST REV, V8
NR 55
TC 0
Z9 0
PU ADIS INT LTD
PI NORTHCOTE
PA 5 THE WAREHOUSE WAY, NORTHCOTE 0627, AUCKLAND, NEW ZEALAND
SN 1174-5878
EI 1179-2019
J9 PEDIATR DRUGS
JI Pediatr. Drugs
PD APR
PY 2014
VL 16
IS 2
BP 123
EP 128
DI 10.1007/s40272-013-0050-4
PG 6
WC Pediatrics; Pharmacology & Pharmacy
SC Pediatrics; Pharmacology & Pharmacy
GA AD4HL
UT WOS:000333209200004
PM 24155138
ER
PT J
AU Shevelkin, AV
Ihenatu, C
Pletnikov, MV
AF Shevelkin, Alexey V.
Ihenatu, Chinezimuzo
Pletnikov, Mikhail V.
TI Pre-clinical models of neurodevelopmental disorders: focus on the
cerebellum
SO REVIEWS IN THE NEUROSCIENCES
LA English
DT Article
DE animal model; autism; cerebellum; Purkinje cells; schizophrenia
ID BORNA-DISEASE VIRUS; FRAGILE-X-SYNDROME; AUTISM SPECTRUM DISORDER;
TUBEROUS SCLEROSIS COMPLEX; G72/G30 TRANSGENIC MICE; STAGGERER MUTANT
MICE; VALPROIC ACID; ANIMAL-MODELS; MOUSE MODEL; PSYCHIATRIC-DISORDERS
AB Recent studies have advanced our understanding of the role of the cerebellum in non-motor behaviors. Abnormalities in the cerebellar structure have been demonstrated to produce changes in emotional, cognitive, and social behaviors resembling clinical manifestations observed in patients with autism spectrum disorders (ASD) and schizophrenia. Several animal models have been used to evaluate the effects of relevant environmental and genetic risk factors on the cerebellum development and function. However, very few models of ASD and schizophrenia selectively target the cerebellum and/or specific cell types within this structure. In this review, we critically evaluate the strength and weaknesses of these models. We will propose that the future progress in this field will require time-and cell type-specific manipulations of disease-relevant genes, not only selectively in the cerebellum, but also in frontal brain areas connected with the cerebellum. Such information can advance our knowledge of the cerebellar contribution to non-motor behaviors in mental health and disease.
C1 [Shevelkin, Alexey V.; Ihenatu, Chinezimuzo; Pletnikov, Mikhail V.] Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA.
[Pletnikov, Mikhail V.] Johns Hopkins Univ, Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD 21287 USA.
[Pletnikov, Mikhail V.] Johns Hopkins Univ, Sch Med, Dept Mol & Comparat Pathobiol, Baltimore, MD 21287 USA.
[Shevelkin, Alexey V.] PK Anokhin Res Inst Normal Physiol, Moscow 125009, Russia.
[Ihenatu, Chinezimuzo] Brown Univ, Providence, RI 02912 USA.
RP Pletnikov, MV (reprint author), Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21287 USA.
EM mpletni1@jhu.edu
FU [1F05MH097457-01]
FX This review was supported by the fellowship grant, 1F05MH097457-01
(AVS).
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NR 184
TC 3
Z9 3
PU WALTER DE GRUYTER GMBH
PI BERLIN
PA GENTHINER STRASSE 13, D-10785 BERLIN, GERMANY
SN 0334-1763
EI 1607-8470
J9 REV NEUROSCIENCE
JI Rev. Neurosci.
PD APR
PY 2014
VL 25
IS 2
BP 177
EP 194
DI 10.1515/revneuro-2013-0049
PG 18
WC Neurosciences
SC Neurosciences & Neurology
GA AD3YU
UT WOS:000333183200001
PM 24523305
ER
PT J
AU Patriquin, MA
Lorenzi, J
Scarpa, A
Bell, MA
AF Patriquin, Michelle A.
Lorenzi, Jill
Scarpa, Angela
Bell, Martha Ann
TI Developmental trajectories of respiratory sinus arrhythmia: Associations
with social responsiveness
SO DEVELOPMENTAL PSYCHOBIOLOGY
LA English
DT Article
DE childhood; developmental trajectory; social; respiratory sinus
arrhythmia; longitudinal; autism
ID CARDIAC VAGAL TONE; POLYVAGAL THEORY; AUTISTIC TRAITS; NERVOUS-SYSTEM;
SAS PROCEDURE; STABILITY; PERSPECTIVE; CHILDREN; INFANTS; VARIABILITY
AB The present longitudinal study examined relations between respiratory sinus arrhythmia (RSA) development and social responsiveness characteristics associated with autism spectrum disorders. Group-based developmental trajectory modeling was used to characterize RSA development patterns in 106 typically developing children across 5, 10, 24, 36, and 48 months of age. A two-group model fit of RSA development was found: a "typically" and "atypically" developing group. The typical group gradually increased in RSA across 5-48 months of age. The atypical group, however, increased in RSA from 5 to 24 months and demonstrated a plateau or "delay" in RSA development from 24 to 48 months. The atypical RSA development group also demonstrated more difficulties in parent-reported social responsiveness at 48 months. The results support current literature that identifies RSA as a marker of social functioning level. (c) 2013 Wiley Periodicals, Inc. Dev Psychobiol 56: 317-326, 2014.
C1 [Patriquin, Michelle A.; Lorenzi, Jill; Scarpa, Angela; Bell, Martha Ann] Virginia Tech, Dept Psychol, Blacksburg, VA 24061 USA.
RP Bell, MA (reprint author), Virginia Tech, Dept Psychol, Blacksburg, VA 24061 USA.
EM mabell@vt.edu
FU Eunice Kennedy Shriver National Institute of Child Health and Human
Development (NICHD) [HD049878, HD043057]
FX Contract grant sponsor: Eunice Kennedy Shriver National Institute of
Child Health and Human Development (NICHD)Contract grant numbers:
HD049878, HD043057
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NR 44
TC 4
Z9 4
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0012-1630
EI 1098-2302
J9 DEV PSYCHOBIOL
JI Dev. Psychobiol.
PD APR
PY 2014
VL 56
IS 3
BP 317
EP 326
DI 10.1002/dev.21100
PG 10
WC Developmental Biology; Psychology
SC Developmental Biology; Psychology
GA AC8EE
UT WOS:000332765300001
PM 23341170
ER
PT J
AU Scharoun, SM
Bryden, PJ
AF Scharoun, Sara M.
Bryden, Pamela J.
TI The Development of end- and beginning-state comfort in a cup
manipulation task
SO DEVELOPMENTAL PSYCHOBIOLOGY
LA English
DT Article
DE motor planning; motor development; end-state comfort; beginning-state
comfort
ID HAND PREFERENCE; YOUNG-CHILDREN; SELECTION; PERFORMANCE; HANDEDNESS;
MOVEMENTS; AUTISM; ADULTS; MOTOR
AB End-state comfort (ESC) is the tendency to assume comfortable postures at the end of simple object manipulation rather than at the start; and therefore has been used to assess the behavioral effects of motor planning. Adult-like patterns have been observed at age 9. Observations can extend to joint-action, such that adults consider the beginning-state comfort (BSC) of another, without sacrificing ESC; however, trends in children have yet to be delineated. This study investigated the development of ESC and BSC in a cup manipulation task. Three to 12-year-olds and adults were asked to pick up a cup and (1) pour a glass of water or (2) pass it to the researcher to pour. Paralleling previous findings, adult-like patterns of ESC were observed at age 9. Adding to the literature, adult-like evidence of BSC emerged at the age of 7. Therefore, 7-year-olds consider another's BSC; however, cannot facilitate ESC until age 9. (c) 2013 Wiley Periodicals, Inc. (c) 2013 Wiley Periodicals, Inc. Dev Psychobiol 56: 407-420, 2014.
C1 [Scharoun, Sara M.; Bryden, Pamela J.] Wilfrid Laurier Univ, Dept Kinesiol & Phys Educ, Waterloo, ON N2L 3G1, Canada.
[Scharoun, Sara M.] Univ Waterloo, Dept Kinesiol, Waterloo, ON N2L 3G1, Canada.
RP Scharoun, SM (reprint author), Wilfrid Laurier Univ, Dept Kinesiol & Phys Educ, Waterloo, ON N2L 3G1, Canada.
EM sscharou@uwaterloo.ca
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NR 34
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0012-1630
EI 1098-2302
J9 DEV PSYCHOBIOL
JI Dev. Psychobiol.
PD APR
PY 2014
VL 56
IS 3
BP 407
EP 420
DI 10.1002/dev.21108
PG 14
WC Developmental Biology; Psychology
SC Developmental Biology; Psychology
GA AC8EE
UT WOS:000332765300007
PM 23532951
ER
PT J
AU Marshall, J
Hill, RJ
Ziviani, J
Dodrill, P
AF Marshall, Jeanne
Hill, Rebecca J.
Ziviani, Jenny
Dodrill, Pamela
TI Features of feeding difficulty in children with Autism Spectrum Disorder
SO INTERNATIONAL JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE Autism spectrum disorders; feeding difficulties; mealtime behaviours;
diet; weight
ID TYPICALLY DEVELOPING-CHILDREN; PERVASIVE DEVELOPMENTAL DISORDERS;
BODY-MASS INDEX; FOOD SELECTIVITY; GASTROINTESTINAL SYMPTOMS;
ASPERGERS-DISORDER; MEALTIME BEHAVIORS; CHILDHOOD AUTISM; EATING
BEHAVIORS; DIETARY-INTAKE
AB Parents of children with Autism Spectrum Disorders (ASD) commonly report concerns regarding feeding difficulties and poor nutrition. Feeding difficulties, in the form of undesirable mealtime behaviours and/or skill deficits, can cause parental concern and impact on family dynamics. Poor nutrition can have an impact on development and health outcomes. The purpose of this paper was to review recent research regarding feeding difficulties in children with ASD, in order to describe: (1) the most frequently reported undesirable mealtime behaviours and skill deficits; and (2) dietary intake and weight patterns as markers of nutrition. While the ASD population is a somewhat heterogeneous group, this literature review of 44 research studies identified a number of common issues for these children. Restricted dietary variety, food neophobia, food refusal, limiting diet based on texture, and a propensity towards being overweight were frequently reported. Gaining a better understanding of the common features of feeding difficulties experienced by children with ASD will assist in directing intervention studies. Findings from such studies have the potential to enhance developmental and nutritional outcomes for this group. Well-designed longitudinal research would be valuable in monitoring the impact of feeding difficulties for these children as they age.
C1 [Marshall, Jeanne; Dodrill, Pamela] Univ Queensland, Queensland Childrens Med Res Inst, Brisbane, Qld, Australia.
[Hill, Rebecca J.] Univ Queensland, Sch Med, Childrens Nutr Res Ctr, Brisbane, Qld, Australia.
[Ziviani, Jenny] Univ Queensland, Sch Hlth & Rehabil Sci, Brisbane, Qld, Australia.
[Ziviani, Jenny] Queensland Hlth, Brisbane, Qld, Australia.
[Dodrill, Pamela] Royal Childrens Hosp, Brisbane, Qld 4029, Australia.
RP Marshall, J (reprint author), Royal Childrens Hosp, Queensland Childrens Med Res Inst, Level 4,Fdn Bldg,Herston Rd, Brisbane, Qld 4029, Australia.
EM j.marshall@uq.edu.au
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NR 58
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI NEW YORK
PA 52 VANDERBILT AVE, NEW YORK, NY 10017 USA
SN 1754-9507
EI 1754-9515
J9 INT J SPEECH-LANG PA
JI Int. J. Speech-Lang. Pathol.
PD APR
PY 2014
VL 16
IS 2
BP 151
EP 158
DI 10.3109/17549507.2013.808700
PG 8
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AD2AO
UT WOS:000333035000007
PM 24001171
ER
PT J
AU Farmer, JE
Clark, MJ
Mayfield, WA
Cheak-Zamora, N
Marvin, AR
Law, JK
Law, PA
AF Farmer, Janet E.
Clark, Mary J.
Mayfield, Wayne A.
Cheak-Zamora, Nancy
Marvin, Alison R.
Law, J. Kiely
Law, Paul A.
TI The Relationship Between the Medical Home and Unmet Needs for Children
with Autism Spectrum Disorders
SO MATERNAL AND CHILD HEALTH JOURNAL
LA English
DT Article
DE Autistic disorder; Delivery of health care; Health services; Medical
home; Patient-centered care
ID HEALTH-CARE NEEDS; FAMILY-CENTERED CARE; NATIONAL-SURVEY; UNITED-STATES;
ACCESS; SERVICES; SATISFACTION; INSURANCE; IMPACT
AB The purpose of this study was to examine the relationship between having access to a medical home and unmet needs for specialty care services for children with autism spectrum disorders (ASD). Parents of children enrolled in a national autism registry were invited to complete an online Access to Care Questionnaire. The resulting sample consisted of 371 parents-child dyads. Bivariate and hierarchical regression analyses were conducted to determine whether having a medical home was associated with the number of unmet needs for specialty care. Less than one in five children with ASD had a medical home (18.9 %). Nearly all parents reported that their child had a personal doctor or nurse as well as a usual source of care, but less than one-third received coordinated care (29.9 %) and less than one-half received family-centered care (47.1 %). Many children had unmet needs (63 %), and the highest unmet need was for behavioral therapy. Having a medical home was associated with fewer unmet specialty care needs, even after demographic, child and family characteristics were taken into account. Children with ASD who have a medical home are more likely to have adequate access to needed services. Unfortunately, relatively few children have a medical home that includes family-centered and coordinated care. Enhancements in the delivery of primary care for children with ASD may make a real difference in access to needed specialty care services, potentially improving child and family outcomes.
C1 [Farmer, Janet E.] Univ Missouri, Dept Hlth Psychol, Columbia, MO 65211 USA.
[Clark, Mary J.; Mayfield, Wayne A.] Univ Missouri, Thompson Ctr Autism & Neurodev Disorder, Columbia, MO 65211 USA.
[Cheak-Zamora, Nancy] Univ Missouri, Dept Hlth Sci, Columbia, MO 65211 USA.
[Marvin, Alison R.; Law, J. Kiely; Law, Paul A.] Kennedy Krieger Inst, Dept Med Informat, Baltimore, MD USA.
[Law, J. Kiely; Law, Paul A.] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA.
RP Farmer, JE (reprint author), Univ Missouri, Dept Hlth Psychol, 421 Lewis Hall, Columbia, MO 65211 USA.
EM farmerje@health.missouri.edu
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NR 34
TC 3
Z9 4
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1092-7875
EI 1573-6628
J9 MATERN CHILD HLTH J
JI Matern. Child Health J.
PD APR
PY 2014
VL 18
IS 3
BP 672
EP 680
DI 10.1007/s10995-013-1292-z
PG 9
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AD1XI
UT WOS:000333026600019
PM 23793533
ER
PT J
AU Bashir, S
Al-Ayadhi, LY
AF Bashir, Shahid
Al-Ayadhi, Laila Y.
TI Effect of camel milk on thymus and activation-regulated chemokine in
autistic children: double-blind study
SO PEDIATRIC RESEARCH
LA English
DT Article
ID SPECTRUM DISORDERS; IMMUNE; SCHIZOPHRENIA; INFLAMMATION; EXPRESSION;
ANTIBODIES; INFECTION; ETIOLOGY; DISEASE; PROTEIN
AB BACKGROUND: This study aimed to investigate the role of the effectiveness of camel milk (CM) (raw and boiled) on thymus and activation-regulated chemokine (TARC) serum levels and childhood autism rating scale (CARS) score in subjects with autism and compared to placebo group (cow milk).
METHODS: Forty-five subjects diagnosed with autism were randomly assigned to receive boiled CM for group I (n = 15), raw CM for group II (n = 15), and placebo for group III (n = 15) for 2 wk. Measures included changes in professionally completed CARS score and blood samples for TARC serum level were taken before and after milk consumption of 500 ml per day in children's regular daily diet.
RESULTS: The serum levels of TARC decreased significantly (P = 0.004) in boiled CM and in raw CM group (P = 0.01) too, but no effect was observed (P = 0.68) in placebo group. Furthermore, significant improvements were observed in CARS score (P = 0.04) in raw CM group only. There were no significant relationships between the serum of TARC level and the CARS score, age, or gender for any group.
CONCLUSION: CM administered for 2 wk significantly improved clinical measurements of autism severity and decreased serum level of TARC in autistic children, but subsequent studies are recommended.
C1 [Bashir, Shahid; Al-Ayadhi, Laila Y.] King Saud Univ, Autism Res & Treatment Ctr, Shaik AL Amodi Autism Res Chair, Dept Physiol,Fac Med, Riyadh, Saudi Arabia.
[Bashir, Shahid] Harvard Univ, Beth Israel Deaconess Med Ctr, Berenson Allen Ctr Noninvas Brain Stimulat, Div Cognit Neurol,Dept Neurol,Med Sch, Boston, MA 02215 USA.
RP Al-Ayadhi, LY (reprint author), King Saud Univ, Autism Res & Treatment Ctr, Shaik AL Amodi Autism Res Chair, Dept Physiol,Fac Med, Riyadh, Saudi Arabia.
EM ayadh2@gmail.com
FU King Abdulaziz City for Science and Technology [A-L-11-0808]; National
Plane of Science and Technology Health Research program; Deanship of
Scientific Research grant from King Saud University, Saudi Arabia
[RGP-VPP-216]
FX Work on this study was supported by grants from the King Abdulaziz City
for Science and Technology (A-L-11-0808), and National Plane of Science
and Technology Health Research program and Deanship of Scientific
Research grant (RGP-VPP-216) from King Saud University, Saudi Arabia.
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NR 45
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 0031-3998
EI 1530-0447
J9 PEDIATR RES
JI Pediatr. Res.
PD APR
PY 2014
VL 75
IS 4
BP 559
EP 563
DI 10.1038/pr.2013.248
PG 5
WC Pediatrics
SC Pediatrics
GA AD3LA
UT WOS:000333139400012
PM 24375082
ER
PT J
AU Camacho, R
Anderson, A
Moore, DW
Furlonger, B
AF Camacho, Regina
Anderson, Angelika
Moore, Dennis W.
Furlonger, Brett
TI Conducting a Function-Based Intervention in a School Setting to Reduce
Inappropriate Behaviour of a Child With Autism
SO BEHAVIOUR CHANGE
LA English
DT Article
DE school; modified functional analysis; Behavior Capture; autism; problem
behaviour; classroom
ID SPECTRUM DISORDERS; YOUNG-CHILDREN; SOCIAL-SKILLS
AB Although function-based interventions have been shown to be effective, the methods utilised to carry out functional behaviour assessments (FBA) have practical limitations. This study explored the relative utility and feasibility of three FBA methods in a school setting to inform a function-based intervention to reduce problem behaviour in a boy with autism. The study consisted of (1) indirect and direct assessments, (2) a modified functional analysis, and (3) the intervention. New video technology, Behavior Capture, was trialled to facilitate data collection in the classroom. All methods contributed to identifying the function of the problematic behaviour, though only the functional analysis provided conclusive results. A peer-mediated intervention based on these findings conducted in the school playground reduced the problem behaviours. All FBA methods could be applied in the school setting and provided useful information. Novel technology was helpful in facilitating data collection. A naturalistic intervention was successful in reducing problem behaviours and increasing play skills.
C1 [Camacho, Regina; Anderson, Angelika; Moore, Dennis W.; Furlonger, Brett] Monash Univ, Melbourne, Vic 3004, Australia.
RP Anderson, A (reprint author), Monash Univ, Fac Educ, Wellington Rd, Clayton, Vic 3800, Australia.
EM angelika.anderson@monash.edu
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NR 24
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0813-4839
EI 2049-7768
J9 BEHAV CHANGE
JI Behav. Change
PD APR
PY 2014
VL 31
IS 1
BP 65
EP 77
DI 10.1017/bec.2013.33
PG 13
WC Psychology, Clinical
SC Psychology
GA AD0LP
UT WOS:000332925800005
ER
PT J
AU Dulawa, SC
AF Dulawa, Stephanie C.
TI Epigenetic programing of depression during gestation
SO BIOESSAYS
LA English
DT Article
DE animal model; chromatin remodeling; depression; development;
methylation; mood disorder; prenatal
ID PITUITARY-ADRENAL AXIS; PRENATAL STRESS; NEUROTROPHIC FACTOR;
AFFECTIVE-DISORDER; BRAIN-DEVELOPMENT; BEHAVIOR PROBLEMS; MALE-RAT;
EXPOSURE; ANXIETY; MICE
AB Gestational factors play a role in the development of several neuropsychiatric disorders including schizophrenia and autism. In utero conditions influence future mental health through epigenetic mechanisms, which alter gene expression without affecting DNA coding sequence. Environmental factors account for at least 60% of the risk for developing major depression, and earlier onset of depressive illness has been observed over the past decades. I speculate that gestational factors may play a greater role in programing depression than previously recognized. Here, I examine recent evidence for a role for gestational factors in programing mood disorders, and how epigenetic mechanisms mediate this effect.
C1 [Dulawa, Stephanie C.] Univ Chicago, Comm Neurobiol, Chicago, IL 60637 USA.
[Dulawa, Stephanie C.] Univ Chicago, Dept Psychiat & Behav Neurosci, Chicago, IL 60637 USA.
RP Dulawa, SC (reprint author), Univ Chicago, Comm Neurobiol, Chicago, IL 60637 USA.
EM dulawa@uchicago.edu
FU National Institutes of Health [R01MH099248]; NARSAD
FX This work was funded by National Institutes of Health Grant R01MH099248
and a NARSAD Young Investigator Award.
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NR 49
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0265-9247
EI 1521-1878
J9 BIOESSAYS
JI Bioessays
PD APR
PY 2014
VL 36
IS 4
BP 353
EP 358
DI 10.1002/bies.201300089
PG 6
WC Biochemistry & Molecular Biology; Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics
GA AC2XE
UT WOS:000332378800005
PM 24446085
ER
PT J
AU Broek, JAC
Brombacher, E
Stelzhammer, V
Guest, PC
Rahmoune, H
Bahn, S
AF Broek, Jantine A. C.
Brombacher, Eva
Stelzhammer, Viktoria
Guest, Paul C.
Rahmoune, Hassan
Bahn, Sabine
TI The need for a comprehensive molecular characterization of autism
spectrum disorders
SO INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY
LA English
DT Review
DE pre-clinical models; biomarker; Autism spectrum disorder (ASD); omic
platforms
ID PLURIPOTENT STEM-CELLS; FRAGILE-X-SYNDROME; BLOOD MONONUCLEAR-CELLS;
PLASMA BETA-ENDORPHIN; MENTAL-RETARDATION PROTEIN; COMMON DIETARY
PROTEINS; HIGH-FUNCTIONING AUTISM; LONG-TERM POTENTIATION; INCREASED
SERUM-LEVELS; OXIDATIVE STRESS
AB Autism spectrum disorders (ASD) are a heterogeneous group of disorders which have complex behavioural phenotypes. Although ASD is a highly heritable neuropsychiatric disorder, genetic research alone has not provided a profound understanding of the underlying causes. Recent developments using biochemical tools such as transcriptomics, proteomics and cellular models, will pave the way to gain new insights into the underlying pathological pathways. This review addresses the state-of-the-art in the search for molecular biomarkers for ASD. In particular, the most important findings in the biochemical field are highlighted and the need for establishing streamlined interaction between behavioural studies, genetics and proteomics is stressed. Eventually, these approaches will lead to suitable translational ASD models and, therefore, a better disease understanding which may facilitate novel drug discovery efforts in this challenging field.
C1 [Broek, Jantine A. C.; Brombacher, Eva; Stelzhammer, Viktoria; Guest, Paul C.; Rahmoune, Hassan; Bahn, Sabine] Univ Cambridge, Dept Chem Engn & Biotechnol, Cambridge CB2 1QT, England.
[Brombacher, Eva; Bahn, Sabine] Erasmus MC, Dept Neurosci, Rotterdam, Netherlands.
RP Bahn, S (reprint author), Univ Cambridge, Inst Biotechnol, Tennis Court Rd, Cambridge CB2 1QT, England.
EM sb209@cam.ac.uk
FU Dutch fund for Economic Structure Reinforcement (FES) [0908];
AutismSpeaks grant [6009]
FX This work was supported by the Dutch fund for Economic Structure
Reinforcement (FES) under grant agreement number 0908 (the NeuroBasic
PharmaPhenomics project) and the AutismSpeaks grant (#6009).
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NR 285
TC 3
Z9 3
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1461-1457
EI 1469-5111
J9 INT J NEUROPSYCHOPH
JI Int. J. Neuropsychopharmacol.
PD APR
PY 2014
VL 17
IS 4
BP 651
EP 673
DI 10.1017/S146114571300117X
PG 23
WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AC6JH
UT WOS:000332627800013
PM 24229490
ER
PT J
AU Angkustsiri, K
Goodlin-Jones, B
Deprey, L
Brahmbhatt, K
Harris, S
Simon, TJ
AF Angkustsiri, Kathleen
Goodlin-Jones, Beth
Deprey, Lesley
Brahmbhatt, Khyati
Harris, Susan
Simon, Tony J.
TI Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS):
Autism Spectrum Disorder or a Different Endophenotype?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; ASD; 22q11.2 deletion syndrome; Velocardiofacial syndrome
ID CARDIO-FACIAL-SYNDROME; CHILDREN; SYMPTOMS; SCHIZOPHRENIA;
MICRODELETION; INDIVIDUALS; COGNITION; PROFILE; THOUGHT; ADULTS
AB High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more similar to that used in clinical practice by incorporating history (Social Communication Questionnaire) AND a standardized observation measure (Autism Diagnostic Observation Schedule) and suggests that ASD is not as common as previously reported in 22q11.2DS. Differences in methodology, along with comorbid conditions such as anxiety, likely contribute to false elevations in ASD prevalence and information from multiple sources should be included in the evaluation of ASD.
C1 [Angkustsiri, Kathleen] Univ Calif Davis, Dept Pediat, Med Ctr, Sacramento, CA 95817 USA.
[Angkustsiri, Kathleen; Goodlin-Jones, Beth; Deprey, Lesley; Brahmbhatt, Khyati; Harris, Susan; Simon, Tony J.] Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA.
[Goodlin-Jones, Beth; Brahmbhatt, Khyati; Simon, Tony J.] Univ Calif Davis, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA.
RP Angkustsiri, K (reprint author), Univ Calif Davis, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM kathleen.angkustsiri@ucdmc.ucdavis.edu
CR American Psychiatric Association, 2000, QUICK REF DIAGN CRIT
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NR 40
TC 3
Z9 3
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 739
EP 746
DI 10.1007/s10803-013-1920-x
PG 8
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900001
PM 24045981
ER
PT J
AU Winburn, E
Charlton, J
McConachie, H
McColl, E
Parr, J
O'Hare, A
Baird, G
Gringras, P
Wilson, DC
Adamson, A
Adams, S
Le Couteur, A
AF Winburn, Elizabeth
Charlton, Jenna
McConachie, Helen
McColl, Elaine
Parr, Jeremy
O'Hare, Anne
Baird, Gillian
Gringras, Paul
Wilson, David C.
Adamson, Ashley
Adams, Sandra
Le Couteur, Ann
TI Parents' and Child Health Professionals' Attitudes Towards Dietary
Interventions for Children with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; ASD; Dietary interventions; Gluten; Casein
ID CASEIN-FREE DIET; INTESTINAL PERMEABILITY; YOUNG-CHILDREN; GLUTEN-FREE;
COMPLEMENTARY; PREVALENCE; THERAPIES; PEPTIDES; SYMPTOMS; BLIND
AB Parents of children with autism spectrum disorders (ASD) use a wide range of interventions including poorly evidenced dietary interventions. To investigate parents' and professionals' experience of dietary interventions and attitudes towards a proposed trial to evaluate the gluten free casein free diet (GFCFD). Survey of UK parents of children with ASD, and professionals. 258 parents and 244 professionals participated. 83 % of children had received a range of dietary manipulations; three quarters of professionals have been asked for advice about GFCFD. Respondents identified an inadequate evidence base for dietary interventions in ASD and suggested modifications to a proposed trial design. Both parents and professionals supported the need for further evaluation of dietary interventions in ASD.
C1 [Winburn, Elizabeth] Solent NHS Trust, Southampton SO16 9QX, Hants, England.
[Charlton, Jenna] Newcastle Univ, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England.
[McConachie, Helen; Le Couteur, Ann] Newcastle Univ, Inst Hlth & Soc, Sir James Spence Inst, Royal Victoria Infirm, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England.
[McColl, Elaine] Newcastle Univ, Sch Med, Newcastle Clin Trials Unit, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England.
[Parr, Jeremy] Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England.
[O'Hare, Anne; Wilson, David C.] Univ Edinburgh, Edinburgh EH9 1UW, Midlothian, Scotland.
[Baird, Gillian; Gringras, Paul] Guys & Thomas NHS Fdn Trust, London SE1 7EH, England.
[Adamson, Ashley] Newcastle Univ, Inst Hlth & Soc, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England.
[Adamson, Ashley] Newcastle Univ, Human Nutr Res Ctr, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England.
[Adams, Sandra] North Tyneside Gen Hosp, Dept Nutr & Dietet, North Shields, Tyne & Wear, England.
RP Le Couteur, A (reprint author), Newcastle Univ, Inst Hlth & Soc, Sir James Spence Inst, Royal Victoria Infirm, 3rd Floor, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England.
EM a.s.le-couteur@newcastle.ac.uk
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Woodall A, 2010, BMC PSYCHIATRY, V10, DOI 10.1186/1471-244X-10-103
NR 58
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 747
EP 757
DI 10.1007/s10803-013-1922-8
PG 11
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900002
PM 23996225
ER
PT J
AU Young, RL
Rodi, ML
AF Young, Robyn L.
Rodi, Melissa L.
TI Redefining Autism Spectrum Disorder Using DSM-5: The Implications of the
Proposed DSM-5 Criteria for Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Diagnosis; DSM-IV; DSM-5
ID PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC-CRITERIA;
ASPERGER-SYNDROME; CHILDREN; PHENOTYPE; QUOTIENT; VALIDITY
AB A number of changes were made to pervasive developmental disorders (PDDs) in the recently released diagnostic and statistical manual of mental disorders (APA, Diagnostic and statistical manual of mental disorders, American Psychiatric Publishing, Arlington, VA, 2013). Of the 210 participants in the present study who met DSM-IV-TR criteria for a PDD [i.e., autistic disorder, Asperger's disorder and pervasive developmental disorder-not otherwise specified (PDD-NOS)], only 57.1 % met DSM-5 criteria (specificity = 1.0) for autism spectrum disorder when criteria were applied concurrently during diagnostic assessment. High-functioning individuals (i.e., Asperger's disorder and PDD-NOS) were less likely to meet DSM-5 criteria than those with autistic disorder. A failure to satisfy all three criteria in the social-communication domain was the most common reason for exclusion (39 %). The implications of these results are discussed.
C1 [Young, Robyn L.; Rodi, Melissa L.] Flinders Univ South Australia, Adelaide, SA 5001, Australia.
RP Young, RL (reprint author), Flinders Univ South Australia, GPO BOX 2100, Adelaide, SA 5001, Australia.
EM robyn.young@flinders.edu.au
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association (APA), 2013, DIAGN STAT MAN MENT
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Schopler E., 1988, CHILDHOOD AUTISM RAT
Scott FJ, 2002, AUTISM, V6, P9, DOI 10.1177/1362361302006001003
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Worley JA, 2012, RES AUTISM SPECT DIS, V6, P965, DOI 10.1016/j.rasd.2011.12.012
Young R., 2007, AUTISM DETECTION EAR
NR 20
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 758
EP 765
DI 10.1007/s10803-013-1927-3
PG 8
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900003
PM 24057130
ER
PT J
AU Xu, GF
Jing, J
Bowers, K
Liu, BY
Bao, W
AF Xu, Guifeng
Jing, Jin
Bowers, Katherine
Liu, Buyun
Bao, Wei
TI Maternal Diabetes and the Risk of Autism Spectrum Disorders in the
Offspring: A Systematic Review and Meta-Analysis
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Diabetes; Pregnancy
ID COMPREHENSIVE METAANALYSIS; AUTOIMMUNE-DISEASES; LIPID-PEROXIDATION;
OXIDATIVE STRESS; NEONATAL FACTORS; PREGNANCY; COMPLICATIONS;
POPULATION; PREVALENCE; MELLITUS
AB We performed a systematic literature search regarding maternal diabetes before and during pregnancy and the risk of autism spectrum disorders (ASD) in the offspring. Of the 178 potentially relevant articles, 12 articles including three cohort studies and nine case-control studies were included in the meta-analysis. Both the meta-analyses of cohort studies and case-control studies showed significant associations. The pooled relative risk and 95 % confidence interval (CI) among cohort studies was 1.48 (1.25-1.75, p < 0.001). For case-control studies, the pooled odds ratio and 95 % CI was 1.72 (1.24-2.41, p = 0.001). No indication of significant heterogeneity across studies or publication bias was observed. In conclusion, maternal diabetes was significantly associated with a greater risk of ASD in the offspring.
C1 [Xu, Guifeng; Jing, Jin; Liu, Buyun] Sun Yat Sen Univ, Sch Publ Hlth, Dept Maternal & Child Hlth, Guangzhou 510080, Guangdong, Peoples R China.
[Bowers, Katherine] Univ Cincinnati, Cincinnati Childrens Hosp Med Ctr, Div Biostat & Epidemiol, Coll Med, Cincinnati, OH 45229 USA.
[Bao, Wei] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Epidemiol Branch, Div Epidemiol Stat & Prevent Res, NIH, Rockville, MD 20852 USA.
RP Jing, J (reprint author), Sun Yat Sen Univ, Sch Publ Hlth, Dept Maternal & Child Hlth, Guangzhou 510080, Guangdong, Peoples R China.
EM jingjin@mail.sysu.edu.cn; baow2@mail.nih.gov
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NR 60
TC 6
Z9 6
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 766
EP 775
DI 10.1007/s10803-013-1928-2
PG 10
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900004
PM 24057131
ER
PT J
AU Orellana, LM
Martinez-Sanchis, S
Silvestre, FJ
AF Orellana, Lorena M.
Martinez-Sanchis, Sonia
Silvestre, Francisco J.
TI Training Adults and Children with an Autism Spectrum Disorder to be
Compliant with a Clinical Dental Assessment Using a TEACCH-Based
Approach
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Oral assessment; TEACCH-based training program; Compliance
ID BEHAVIOR; MANAGEMENT; NEEDS
AB The specific neuropsychological and sensory profile found in persons with autism spectrum disorders complicate dental procedures and as a result of this, most are treated under general anesthesia or unnecessary sedation. The main goal of the present study was to evaluate the effectiveness of a short treatment and education of autistic and related communication-handicapped children-based intervention program (five sessions) to facilitate a 10-component oral assessment in children (n = 38, aged 4-9 years) and adults (n = 34, aged 19-41) with autism spectrum disorder (with or without associated intellectual disability). The assessment ranges from entering into the examination room to the evaluation of the dental occlusion. There were statistically significant differences in the number of components reached and in compliance before and after the training program.
C1 [Orellana, Lorena M.; Silvestre, Francisco J.] Univ Valencia, Dept Stomatol, Valencia 46010, Spain.
[Martinez-Sanchis, Sonia] Univ Valencia, Fac Psychol, Dept Psychobiol, Valencia 46010, Spain.
[Martinez-Sanchis, Sonia] Univ Valencia, Neurodev Disorders Res Unit, Valencia 46010, Spain.
[Silvestre, Francisco J.] Dr Peset Univ Hosp, Stomatol Unit, Valencia, Spain.
RP Martinez-Sanchis, S (reprint author), Univ Valencia, Fac Psychol, Dept Psychobiol, Ave Blasco Ibanez 21, Valencia 46010, Spain.
EM sonia.mtnez-sanchis@uv.es
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NR 34
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 776
EP 785
DI 10.1007/s10803-013-1930-8
PG 10
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900005
PM 24002415
ER
PT J
AU Sappok, T
Budczies, J
Dziobek, I
Bolte, S
Dosen, A
Diefenbacher, A
AF Sappok, Tanja
Budczies, Jan
Dziobek, Isabel
Boelte, Sven
Dosen, Anton
Diefenbacher, Albert
TI The Missing Link: Delayed Emotional Development Predicts Challenging
Behavior in Adults with Intellectual Disability
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Intellectual disability; Autism spectrum disorders; Adults; Emotional
development; Challenging behavior
ID AUTISM SPECTRUM DISORDER; OVERT AGGRESSION SCALE; DIAGNOSTIC OBSERVATION
SCHEDULE; EARLY INTERVENTION PROGRAM; SELF-INJURIOUS-BEHAVIOR;
PSYCHOTROPIC MEDICATION; PSYCHIATRIC-ASSESSMENT; ADAPTIVE-BEHAVIOR;
MENTAL-HEALTH; RISK MARKERS
AB Individuals with intellectual disability (ID) show high rates of challenging behavior (CB). The aim of this retrospective study was to assess the factors underlying CB in an adult, clinical ID sample (n = 203). Low levels of emotional development (ED), as measured by the Scheme of Appraisal of ED, predicted overall CB, specifically irritability and self-injury, high unemployment and low occupation rates, while severity of ID controlled for ED did not. Autism was the only mental disorder associated with overall CB, stereotypy, lethargy, and predicted antipsychotic drug usage. Given the persistence and clinical significance of CB, evaluation of autism and ED may suggest priority areas for diagnostics and therapy, to provide the prerequisites for participation in society and living up one's potentials.
C1 [Sappok, Tanja; Diefenbacher, Albert] Univ Affiliated Hosp Charite, Konigin Elisabeth Herzberge Hosp, Dept Psychiat Psychotherapy & Psychosomat, D-10365 Berlin, Germany.
[Budczies, Jan] Charite, Dept Pathol, D-10117 Berlin, Germany.
[Dziobek, Isabel] Free Univ Berlin, Cluster Excellence Languages Emot, D-14195 Berlin, Germany.
[Boelte, Sven] Karolinska Inst KIND, Dept Womens & Childrens Hlth, Ctr Neurodev Disorders, S-17176 Stockholm, Sweden.
[Dosen, Anton] Radboud Univ Nijmegen, Univ Hosp, Dept Psychiat, NL-6525 HP Nijmegen, Netherlands.
RP Sappok, T (reprint author), Univ Affiliated Hosp Charite, Konigin Elisabeth Herzberge Hosp, Dept Psychiat Psychotherapy & Psychosomat, Herzbergstr 79, D-10365 Berlin, Germany.
EM tanja.sappok@t-online.de
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NR 94
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 786
EP 800
DI 10.1007/s10803-013-1933-5
PG 15
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900006
PM 24002416
ER
PT J
AU Evers, K
Panis, S
Torfs, K
Steyaert, J
Noens, I
Wagemans, J
AF Evers, Kris
Panis, Sven
Torfs, Katrien
Steyaert, Jean
Noens, Ilse
Wagemans, Johan
TI Disturbed Interplay Between Mid- and High-Level Vision in ASD? Evidence
from a Contour Identification Task with Everyday Objects
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder (ASD); Visual perception; Object
identification; Weak central coherence theory; Enhanced perceptual
functioning hypothesis; Bottom-up versus top-down; Gabor; Local versus
global processing
ID AUTISM SPECTRUM DISORDERS; TOP-DOWN FACILITATION; VISUAL-PERCEPTION;
CATEGORY-SPECIFICITY; OUTLINE VERSIONS; WEAK COHERENCE; CHILDREN;
RECOGNITION; INTEGRATION; CONNECTIVITY
AB Atypical visual processing in children with autism spectrum disorder (ASD) does not seem to reside in an isolated processing component, such as global or local processing. We therefore developed a paradigm that requires the interaction between different processes-an identification task with Gaborized object outlines-and applied this to two age groups of 6-to-10 and 10-to-14 year old children with and without ASD. Event history analyses demonstrated an identification disadvantage in the ASD group, which remained quite stable during the temporal unfolding of the outline. The typically developing group particularly outperformed the ASD group when more complex contours were shown. Together, our results suggest that the interplay between local and global processes and between bottom-up and top-down processes is disturbed in ASD.
C1 [Evers, Kris; Panis, Sven; Torfs, Katrien; Wagemans, Johan] Katholieke Univ Leuven, Expt Psychol Lab, B-3000 Louvain, Belgium.
[Evers, Kris; Steyaert, Jean] UPC KU Leuven, Dept Child Psychiat, Louvain, Belgium.
[Evers, Kris; Steyaert, Jean; Noens, Ilse; Wagemans, Johan] Katholieke Univ Leuven, Leuven Autism Res LAuRes, B-3000 Louvain, Belgium.
[Steyaert, Jean] Univ Hosp Maastricht, Dept Clin Genet, Maastricht, Netherlands.
[Noens, Ilse] Katholieke Univ Leuven, Parenting & Special Educ Res Unit, B-3000 Louvain, Belgium.
[Noens, Ilse] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
RP Evers, K (reprint author), Katholieke Univ Leuven, Expt Psychol Lab, Tiensestr 102,Box 3711, B-3000 Louvain, Belgium.
EM kris.evers@psy.kuleuven.be
RI Steyaert, Jean/B-5326-2015
OI Steyaert, Jean/0000-0003-2512-4694
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American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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Wing L, 2011, RES DEV DISABIL, V32, P768, DOI 10.1016/j.ridd.2010.11.003
NR 58
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 801
EP 815
DI 10.1007/s10803-013-1931-7
PG 15
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900007
PM 24037639
ER
PT J
AU Koegel, RL
Bradshaw, JL
Ashbaugh, K
Koegel, LK
AF Koegel, Robert L.
Bradshaw, Jessica L.
Ashbaugh, Kristen
Koegel, Lynn Kern
TI Improving Question-Asking Initiations in Young Children with Autism
Using Pivotal Response Treatment
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Initiations; Early intervention; Motivation; Question-asking; Autism
spectrum disorder; Pivotal response treatment
ID JOINT ATTENTION; NONVERBAL-COMMUNICATION; TEACHING-CHILDREN;
INTERVENTION; ACQUISITION; SPECTRUM; BEHAVIOR; DISORDERS; ABILITIES;
DEFICITS
AB Social initiations make up a core deficit for children with autism spectrum disorder (ASD). In particular, initiated questions during social interactions are often minimal or absent in this population. In the context of a multiple baseline design, the efficacy of using the motivational procedures of Pivotal Response Treatment to increase social question-asking for three young children with autism was assessed. Results indicated that participants initiated a greater number of targeted questions following intervention. Additionally, all children exhibited increases in initiation of untargeted questions during social interaction in novel settings. Furthermore, post intervention data revealed collateral gains in communication and adaptive behavior. Theoretical implications of incorporating motivational strategies into intervention to improve social initiations in young children with ASD are discussed.
C1 [Koegel, Robert L.; Bradshaw, Jessica L.; Ashbaugh, Kristen; Koegel, Lynn Kern] Univ Calif Santa Barbara, Counseling Clin & Sch Psychol Dept, Koegel Autism Ctr, Grad Sch Educ, Santa Barbara, CA 93106 USA.
RP Koegel, RL (reprint author), Univ Calif Santa Barbara, Counseling Clin & Sch Psychol Dept, Koegel Autism Ctr, Grad Sch Educ, Santa Barbara, CA 93106 USA.
EM koegel@education.ucsb.edu; jbradshaw@education.ucsb.edu
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NR 40
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 816
EP 827
DI 10.1007/s10803-013-1932-6
PG 12
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900008
PM 24014174
ER
PT J
AU Davidson, MM
Weismer, SE
AF Davidson, Meghan M.
Weismer, Susan Ellis
TI Characterization and Prediction of Early Reading Abilities in Children
on the Autism Spectrum
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Emergent literacy; Reading; Language; Comprehension; Autism spectrum
disorder
ID EMERGENT LITERACY SKILLS; PARENT VERBAL RESPONSIVENESS; LANGUAGE
IMPAIRMENT; ORAL LANGUAGE; PRESCHOOL-CHILDREN; COMPREHENSION
DIFFICULTIES; COMMUNICATIVE DEVELOPMENT; DEVELOPMENTAL DISORDERS;
INDIVIDUAL-DIFFERENCES; EXPRESSIVE LANGUAGE
AB Many children with autism spectrum disorder (ASD) have reading profiles characterized by higher decoding skills and lower reading comprehension. This study assessed whether this profile was apparent in young children with ASD and examined concurrent and longitudinal predictors of early reading. A discrepant profile of reading (higher alphabet and lower meaning) was found in 62 % of this sample. Concurrent analyses revealed that reading proficiency was associated with higher nonverbal cognition and expressive language, and that social ability was negatively related to alphabet knowledge. Nonverbal cognition and expressive language at mean age 2A1/2 years predicted later reading performance at mean age 5A1/2 years. These results support the importance of early language skills as a foundation for reading in children with ASD.
C1 [Davidson, Meghan M.; Weismer, Susan Ellis] Univ Wisconsin, Dept Commun Sci & Disorders, Waisman Ctr, Madison, WI 53706 USA.
RP Davidson, MM (reprint author), Univ Wisconsin, Dept Commun Sci & Disorders, Waisman Ctr, Goodnight Hall,1975 Willow Dr, Madison, WI 53706 USA.
EM mmdavidson@wisc.edu
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NR 114
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 828
EP 845
DI 10.1007/s10803-013-1936-2
PG 18
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900009
PM 24022730
ER
PT J
AU Ziv, Y
Hadad, BS
Khateeb, Y
AF Ziv, Yair
Hadad, Bat Sheva
Khateeb, Yasmine
TI Social Information Processing in Preschool Children Diagnosed with
Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Social information processing; Autism spectrum disorder; Preschool;
Theory of mind; Social behavior
ID PERVASIVE DEVELOPMENTAL DISORDERS; HIGH-FUNCTIONING AUTISM;
ASPERGER-SYNDROME; AGGRESSIVE-BEHAVIOR; CONDUCT PROBLEMS; SKILLS; MIND;
COMPETENCE; MODEL; INDIVIDUALS
AB The social cognitive deficiencies of children diagnosed with autism spectrum disorders (ASDs) are well documented. However, the mechanisms underlying these deficiencies are unclear. Therefore, we examined the social information processing (SIP) patterns and social behaviors of 25 preschool children with ASDs in comparison to a matched group of 25 typically developing children. We found children with ASDs to be less likely than typically developing children to efficiently encode social information, to positively construct and evaluate competent responses, and to exhibit prosocial behaviors. They were also more likely than typically developing children to attribute hostile intentions to others in benign social situations, to construct and evaluate more positively aggressive responses, to construct more avoidant responses, and to display more externalizing behaviors. Interestingly, counterintuitive patterns of relationships were found within the ASD group with more competent SIP and theory of mind (ToM) patterns relating to less competent social behaviors. Finally, within the ASD group, more competent SIP patterns were found to be significantly related to higher ToM capacities.
C1 [Ziv, Yair; Khateeb, Yasmine] Univ Haifa, Dept Counseling & Human Dev, IL-31905 Haifa, Israel.
[Hadad, Bat Sheva] Univ Haifa, Dept Special Educ, IL-31905 Haifa, Israel.
RP Ziv, Y (reprint author), Univ Haifa, Dept Counseling & Human Dev, IL-31905 Haifa, Israel.
EM yziv@edu.haifa.ac.il
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NR 65
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 846
EP 859
DI 10.1007/s10803-013-1935-3
PG 14
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900010
PM 24005986
ER
PT J
AU Ziv, Y
Hadad, BS
Khateeb, Y
Terkel-Dawer, R
AF Ziv, Yair
Hadad, Bat Sheva
Khateeb, Yasmine
Terkel-Dawer, Ruth
TI Social Information Processing in Preschool Children Diagnosed with
Autism Spectrum Disorder (vol 44, pg 846, 2014)
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Correction
C1 [Ziv, Yair; Khateeb, Yasmine] Univ Haifa, Dept Counseling & Human Dev, IL-31905 Haifa, Israel.
[Hadad, Bat Sheva] Univ Haifa, Dept Special Educ, IL-31905 Haifa, Israel.
[Khateeb, Yasmine; Terkel-Dawer, Ruth] Clalit Hlth Serv, Inst Pediat Neurol & Child Dev, Haifa, Israel.
RP Ziv, Y (reprint author), Univ Haifa, Dept Counseling & Human Dev, IL-31905 Haifa, Israel.
EM yziv@edu.haifa.ac.il
CR Ziv Y, 2014, J AUTISM DEV DISORD, V44, P846, DOI 10.1007/s10803-013-1935-3
NR 1
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 860
EP 860
DI 10.1007/s10803-013-1998-1
PG 1
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900011
ER
PT J
AU Adams, RE
Fredstrom, BK
Duncan, AW
Holleb, LJ
Bishop, SL
AF Adams, Ryan E.
Fredstrom, Bridget K.
Duncan, Amie W.
Holleb, Lauren J.
Bishop, Somer L.
TI Using Self- and Parent-Reports to Test the Association Between Peer
Victimization and Internalizing Symptoms in Verbally Fluent Adolescents
with ASD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Peer victimization; Adolescence; Internalizing
ID AUTISM SPECTRUM DISORDERS; PSYCHOSOCIAL ADJUSTMENT;
PSYCHIATRIC-DISORDERS; ASPERGER-SYNDROME; CHILDREN; DEPRESSION;
PREVALENCE; ANXIETY; HEALTH; YOUTH
AB The current study tested the associations between peer victimization and internalizing symptoms in 54 verbally fluent adolescent males with a diagnosis of autism spectrum disorder. Adolescent- and parent-reports of multiple types of peer victimization and internalizing symptoms were used. First, the validity and reliability of the adolescent-report measure of peer victimization were successfully tested, with some exceptions. Then, structural equation models showed that adolescent-reports of peer victimization were associated with a latent construct of internalizing symptoms even after controlling for parent-reports of peer victimization. Discussion focuses on the importance of considering adolescent-reports of negative peer experience, such as peer victimization, rather than relying exclusively on parent reports.
C1 [Adams, Ryan E.; Fredstrom, Bridget K.; Duncan, Amie W.; Holleb, Lauren J.] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA.
[Bishop, Somer L.] Weill Cornell Med Coll, White Plains, NY 10605 USA.
RP Adams, RE (reprint author), Cincinnati Childrens Hosp Med Ctr, 3333 Burnet Ave,MLC 4002, Cincinnati, OH 45229 USA.
EM ryan.adams@cchmc.org
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NR 39
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 861
EP 872
DI 10.1007/s10803-013-1938-0
PG 12
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900012
PM 24005987
ER
PT J
AU Emberti Gialloreti, L
Pardini, M
Benassi, F
Marciano, S
Amore, M
Mutolo, MG
Porfirio, MC
Curatolo, P
AF Gialloreti, Leonardo Emberti
Pardini, Matteo
Benassi, Francesca
Marciano, Sara
Amore, Mario
Mutolo, Maria Giulia
Porfirio, Maria Cristina
Curatolo, Paolo
TI Reduction in Retinal Nerve Fiber Layer Thickness in Young Adults with
Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Retinal nerve fiber layer thickness; Optical
coherence tomography (OCT); White matter
ID OPTICAL COHERENCE TOMOGRAPHY; MILD COGNITIVE IMPAIRMENT;
ALZHEIMERS-DISEASE; MULTIPLE-SCLEROSIS; ABNORMALITIES; REPRODUCIBILITY;
METAANALYSIS; SENSITIVITY; CHILDREN; GLAUCOMA
AB Recent years have seen an increase in the use of retinal nerve fiber layer (RNFL) evaluation as an easy-to-use, reproducible, proxy-measure of brain structural abnormalities. Here, we evaluated RNFL thickness in a group of subjects with high functioning autism (HFA) or with Asperger Syndrome (AS) to its potential as a tool to study autism pathophysiology. All subjects underwent high-resolution spectral domain optical coherence tomography to evaluate RNFL thickness. HFA subjects presented with reduced global RNFL thickness compared both to AS subjects and controls. AS subjects showed a reduced nasal quadrant RNFL thickness compared to controls. Verbal-IQ/performance-IQ discrepancy correlated with RNFL thickness. Our data suggest that RNFL evaluation could help in the development of biological markers of autism pathophysiology.
C1 [Gialloreti, Leonardo Emberti] Univ Roma Tor Vergata, Dept Biomed & Prevent, I-00133 Rome, Italy.
[Gialloreti, Leonardo Emberti; Pardini, Matteo; Benassi, Francesca] Ctr Commun & Neurorehabil Res CNAPP, Rome, Italy.
[Pardini, Matteo; Amore, Mario] Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, Italy.
[Pardini, Matteo] Univ Genoa, Dept Magnet Resonance, Res Ctr Nervous Syst Dis, Genoa, Italy.
[Marciano, Sara; Porfirio, Maria Cristina; Curatolo, Paolo] Tor Vergata Univ Hosp, Dept Syst Med, Pediat Neurosci Unit, Rome, Italy.
[Mutolo, Maria Giulia] Univ Roma La Sapienza, Dept Ophthalmol, SantAndrea Hosp, I-00185 Rome, Italy.
RP Emberti Gialloreti, L (reprint author), Univ Roma Tor Vergata, Dept Biomed & Prevent, Via Montpellier 1, I-00133 Rome, Italy.
EM leonardo.emberti.gialloreti@uniroma2.it
RI Pardini, Matteo/F-8414-2010
OI Pardini, Matteo/0000-0002-4740-1982
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NR 58
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 873
EP 882
DI 10.1007/s10803-013-1939-z
PG 10
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900013
PM 24014196
ER
PT J
AU McCurdy, EE
Cole, CL
AF McCurdy, Erin E.
Cole, Christine L.
TI Use of a Peer Support Intervention for Promoting Academic Engagement of
Students with Autism in General Education Settings
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Peer support; Inclusion; Autism spectrum disorder; General education
ID COOPERATIVE LEARNING GROUPS; INTEGRATION STRATEGY; SPECTRUM DISORDERS;
ACTIVITY SCHEDULES; TOKEN-ECONOMY; CHILDREN; SCHOOL; BEHAVIORS;
CLASSROOMS; SKILLS
AB Students with autism spectrum disorder (ASD) have been shown to benefit from being educated in general education classrooms that provide interactions with typically developing peers. However, behaviors exhibited by students with ASD frequently lead to their return to segregated special education settings. Evidence-based interventions that are both cost-efficient and easy to use in general education settings are needed. The purpose of this study was to evaluate the effects of a simple peer support intervention on the minor disruptive, off-task behaviors of three elementary students with high-functioning ASD in three different general education classrooms. Results indicated the peer support intervention was effective in reducing the off-task behaviors of the students with ASD in these inclusion settings. Practical implications and directions for future research are discussed.
C1 [McCurdy, Erin E.; Cole, Christine L.] Lehigh Univ, Sch Psychol Program, Bethlehem, PA 18018 USA.
RP McCurdy, EE (reprint author), 617 South Rose St, Baltimore, MD 21224 USA.
EM eem206@lehigh.edu
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NR 33
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 883
EP 893
DI 10.1007/s10803-013-1941-5
PG 11
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900014
PM 24146130
ER
PT J
AU Nichols, CM
Ibanez, LV
Foss-Feig, JH
Stone, WL
AF Nichols, Caitlin McMahon
Ibanez, Lisa V.
Foss-Feig, Jennifer H.
Stone, Wendy L.
TI Social Smiling and Its Components in High-Risk Infant Siblings Without
Later ASD Symptomatology
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; High-risk siblings; Infants; Social smiling
ID AUTISM SPECTRUM DISORDERS; JOINT ATTENTION; CHILDREN; COMMUNICATION;
MOTHERS; FACE; PHENOTYPE; DIAGNOSIS; TODDLERS; LANGUAGE
AB Impaired affective expression, including social smiling, is common in children with autism spectrum disorder (ASD), and may represent an early marker for ASD in their infant siblings (Sibs-ASD). Social smiling and its component behaviors (eye contact and non-social smiling) were examined at 15 months in Sibs-ASD who demonstrated later ASD symptomatology (Sibs-ASD/AS), those who did not (Sibs-ASD/NS), and low-risk controls (Sibs-TD). Both Sibs-ASD subgroups demonstrated lower levels of social smiling than Sibs-TD, suggesting that early social smiling may reflect elevated genetic vulnerability rather than a specific marker for ASD. Only the Sibs-ASD/AS demonstrated less eye contact and non-social smiling than Sibs-TD, suggesting that different processes, threshold effects, or protective factors may underlie social smiling development in the two Sibs-ASD subgroups.
C1 [Nichols, Caitlin McMahon; Foss-Feig, Jennifer H.; Stone, Wendy L.] Vanderbilt Univ, Dept Psychol & Human Dev, Nashville, TN 37235 USA.
[Ibanez, Lisa V.] Univ Miami, Dept Psychol, Miami, FL USA.
[Stone, Wendy L.] Vanderbilt Univ, Dept Pediat, Nashville, TN USA.
RP Stone, WL (reprint author), Univ Washington, Dept Psychol, CHDD Box 357920, Seattle, WA 98195 USA.
EM stonew@uw.edu
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NR 48
TC 3
Z9 3
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 894
EP 902
DI 10.1007/s10803-013-1944-2
PG 9
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900015
PM 24057094
ER
PT J
AU Timberlake, MT
Leutz, WN
Warfield, ME
Chiri, G
AF Timberlake, Maria T.
Leutz, Walter N.
Warfield, Marji Erickson
Chiri, Giuseppina
TI "In the Driver's Seat": Parent Perceptions of Choice in a
Participant-Directed Medicaid Waiver Program for Young Children with
Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Participant direction; Choice; Medicaid home and community-based
services; Autism waiver
ID CARE; SERVICES; CASH
AB This study investigated families' experience of choice within a participant-directed Medicaid waiver program for young children with autism. Fourteen parents or grandparents participated in in-depth interviews about their experience of choosing personnel, directing in-home services, and managing the $25,000 annual allocation. Key findings included families' preference to hire providers with whom they have a prior relationship, parent empowerment and differences of opinion about parents as teachers. Professionals implementing participant directed service models could benefit from understanding the strong value parents' placed on the personalities and interpersonal skills of providers. Parents' descriptions of directing rather than merely accepting autism services revealed increased confidence in their ability to choose and manage the multiple components of their children's HCBS autism waiver program.
C1 [Timberlake, Maria T.; Warfield, Marji Erickson; Chiri, Giuseppina] Brandeis Univ, Heller Sch Social Policy & Management, Starr Ctr Intellectual & Dev Disabil, Waltham, MA 02454 USA.
[Timberlake, Maria T.] Care of Warfield ME, Brandeis Univ, Heller Sch Social Policy & Management, Waltham, MA 02454 USA.
[Leutz, Walter N.] Brandeis Univ, Heller Sch Social Policy & Management, Schneider Inst Hlth Policy, Waltham, MA 02454 USA.
RP Timberlake, MT (reprint author), SUNY Coll Cortland, Fdn & Social Advocacy Dept, Cortland, NY 13045 USA.
EM mew@brandeis.edu
CR Altiere MJ, 2009, J INTELLECT DEV DIS, V34, P142, DOI 10.1080/13668250902845202
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Centers for Medicare and Medicaid Services (CMS), 2010, MED WAIV CHIP PROGR
Charmaz K., 2006, CONSTRUCTING GROUNDE
Doty P, 2012, GENERATIONS, V36, P28
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Leutz W. N., FAMILY WELL IN PRESS
Leutz W. N., INFRASTRUCT IN PRESS
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NR 33
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 903
EP 914
DI 10.1007/s10803-013-1942-4
PG 12
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900016
PM 24057132
ER
PT J
AU Ausderau, K
Sideris, J
Furlong, M
Little, LM
Bulluck, J
Baranek, GT
AF Ausderau, Karla
Sideris, John
Furlong, Melissa
Little, Lauren M.
Bulluck, John
Baranek, Grace T.
TI National Survey of Sensory Features in Children with ASD: Factor
Structure of the Sensory Experience Questionnaire (3.0)
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Factor analysis; Sensory processing
ID AUTISM SPECTRUM DISORDERS; DEVELOPMENTAL DELAYS; ADAPTIVE-BEHAVIOR;
YOUNG-CHILDREN; DISABILITIES; TODDLERS; PERCEPTION; ATTENTION; PATTERNS;
STIMULI
AB This national online survey study characterized sensory features in 1,307 children with autism spectrum disorder (ASD) ages 2-12 years using the Sensory Experiences Questionnaire Version 3.0 (SEQ-3.0). Using the SEQ-3.0, a confirmatory factor analytic model with four substantive factors of hypothesized sensory response patterns (i.e., hyporesponsiveness; hyperresponsiveness; sensory interests, repetitions and seeking behaviors; enhanced perception), five method factors of sensory modalities (i.e., auditory, visual, tactile, gustatory/olfactory, vestibular/proprioceptive), and one of social context were tested with good model fit. Child and family characteristics associated with the sensory response patterns were explored. The effect of sensory response patterns on autism severity was tested, controlling for key child and family characteristics. The SEQ-3.0 demonstrates an empirically valid factor structure specific to ASD that considers sensory response patterns, modalities, and social context.
C1 [Ausderau, Karla; Little, Lauren M.; Bulluck, John; Baranek, Grace T.] Univ N Carolina, Div Occupat Sci, Dept Allied Hlth Sci, Chapel Hill, NC USA.
[Ausderau, Karla] Univ Wisconsin, Occupat Therapy Program, Dept Kinesiol, Med Sci Ctr 3195, Madison, WI 53706 USA.
[Sideris, John] Univ N Carolina, Frank Porter Graham Child Dev Inst, Chapel Hill, NC USA.
[Furlong, Melissa] Univ N Carolina, Dept Epidemiol, UNC Gillings Sch Global Publ Hlth, Chapel Hill, NC USA.
[Little, Lauren M.] Univ Kansas, Med Ctr, Dept Occupat Therapy, Kansas City, MO USA.
RP Ausderau, K (reprint author), Univ Wisconsin, Occupat Therapy Program, Dept Kinesiol, Med Sci Ctr 3195, 1300 Univ Ave, Madison, WI 53706 USA.
EM kausderau@wisc.edu
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NR 54
TC 3
Z9 3
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 915
EP 925
DI 10.1007/s10803-013-1945-1
PG 11
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900017
PM 24097141
ER
PT J
AU Smith, J
Hand, L
Dowrick, PW
AF Smith, Jemma
Hand, Linda
Dowrick, Peter W.
TI Video Feedforward for Rapid Learning of a Picture-Based Communication
System
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Communication systems; Rapid learning; VSM; Self modeling; Feedforward;
Autism; Down syndrome
ID AUTISM SPECTRUM DISORDERS; SPECIAL-EDUCATION; YOUNG-CHILDREN;
SINGLE-SUBJECT; DOWN-SYNDROME; PECS; INTERVENTIONS; DISABILITIES;
METAANALYSIS; SPEECH
AB This study examined the efficacy of video self modeling (VSM) using feedforward, to teach various goals of a picture exchange communication system (PECS). The participants were two boys with autism and one man with Down syndrome. All three participants were non-verbal with no current functional system of communication; the two children had long histories of PECS failure. A series of replications, with different length baselines, was used to examine whether video self modeling could replace the PECS method of teaching to achieve the same goals. All three participants showed rapid learning of their target behavior when introduced to their self modeling videos, and effects generalized without the need for further intervention. We conclude that VSM, using feedforward, can provide a fast, simple way of teaching the use of a picture-based communication system without the need for prompts or intensive operant conditioning. VSM may provide an accessible, easy-to-use alternative to common methods of teaching augmentative and alternative communication systems.
C1 [Smith, Jemma; Hand, Linda; Dowrick, Peter W.] Univ Auckland, Dept Psychol, Auckland, New Zealand.
RP Dowrick, PW (reprint author), Univ Auckland, Dept Psychol, PB 92019, Auckland, New Zealand.
EM jems.smith@gmail.com; l.hand@auckland.ac.nz; p.dowrick@auckland.ac.nz
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NR 53
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 926
EP 936
DI 10.1007/s10803-013-1946-0
PG 11
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900018
PM 24068486
ER
PT J
AU Holm, MB
Baird, JM
Kim, YJ
Rajora, KB
D'Silva, D
Podolinsky, L
Mazefsky, C
Minshew, N
AF Holm, Margo B.
Baird, Joanne M.
Kim, Young Joo
Rajora, Kuwar B.
D'Silva, Delma
Podolinsky, Lin
Mazefsky, Carla
Minshew, Nancy
TI Therapeutic Horseback Riding Outcomes of Parent-Identified Goals for
Children with Autism Spectrum Disorder: An ABA' Multiple Case Design
Examining Dosing and Generalization to the Home and Community
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Single subject design; Home; Community
ID ABERRANT BEHAVIOR CHECKLIST; GROSS MOTOR FUNCTION; CEREBRAL-PALSY;
SPECIAL-EDUCATION; HIPPOTHERAPY; PROGRAM; METAANALYSIS; HEALTH; TRIAL
AB We examined whether different doses of therapeutic riding influenced parent-nominated target behaviors of children with autism spectrum disorder (ASD) (a) during the session (b) at home, and (c) in the community. We used a single subject multiple Baseline, multiple case design, with dosing of 1, 3, and 5 times/week. Three boys with ASD, 6-8 years of age participated, and counts of target behaviors were collected in each setting and phase of the study. Compared to Baseline, 70 % of the target behaviors were better during Intervention and improvement was retained in 63 % of the behaviors during Withdrawal. Increased doses of therapeutic riding were significant for magnitude of change, and the effect of the therapeutic riding sessions generalized to home and community.
C1 [Holm, Margo B.; Baird, Joanne M.; Kim, Young Joo; Rajora, Kuwar B.; D'Silva, Delma] Univ Pittsburgh, Dept Occupat Therapy, Sch Hlth & Rehabil Sci SHRS, Pittsburgh, PA 15260 USA.
[Podolinsky, Lin] Nickers N Neighs, Acme, PA 15610 USA.
[Mazefsky, Carla] Univ Pittsburgh, Sch Med, Dept Pediat, Pittsburgh, PA 15213 USA.
[Mazefsky, Carla; Minshew, Nancy] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15213 USA.
[Minshew, Nancy] Univ Pittsburgh, Sch Med, Dept Neurol, Pittsburgh, PA 15213 USA.
RP Holm, MB (reprint author), Univ Pittsburgh, Dept Occupat Therapy, Sch Hlth & Rehabil Sci SHRS, 5012 Forbes Tower, Pittsburgh, PA 15260 USA.
EM mbholm@pitt.edu
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NR 31
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 937
EP 947
DI 10.1007/s10803-013-1949-x
PG 11
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900019
PM 24091469
ER
PT J
AU Hirota, T
Veenstra-VanderWeele, J
Hollander, E
Kishi, T
AF Hirota, Tomoya
Veenstra-VanderWeele, Jeremy
Hollander, Eric
Kishi, Taro
TI Antiepileptic Medications in Autism Spectrum Disorder: A Systematic
Review and Meta-Analysis
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Antiepileptic; Mood stabilizer; Anticonvulsant; Autism; Pervasive
developmental disorder
ID BORDERLINE PERSONALITY-DISORDER; PLACEBO-CONTROLLED TRIAL; PERVASIVE
DEVELOPMENTAL DISORDERS; DOUBLE-BLIND; DIVALPROEX SODIUM; CHILDREN;
AGGRESSION; ADOLESCENTS; LEVETIRACETAM; IRRITABILITY
AB Electroencephalogram-recorded epileptiform activity is common in children with autism spectrum disorder (ASD), even without clinical seizures. A systematic literature search identified 7 randomized, placebo-controlled trials of antiepileptic drugs (AEDs) in ASD (total n = 171), including three of valproate, and one each of lamotrigine, levetiracetam, and topiramate. Meta-analysis revealed no significant difference between medication and placebo in four studies targeting irritability/agitation and three studies investigating global improvement, although limitations include lack of power and different medications with diverse actions. Across all seven studies, there was no significant difference in discontinuation rate between two groups. AEDs do not appear to have a large effect size to treat behavioral symptoms in ASD, but further research is needed, particularly in the subgroup of patients with epileptiform abnormalities.
C1 [Hirota, Tomoya; Veenstra-VanderWeele, Jeremy] Vanderbilt Univ, Dept Psychiat, Med Ctr, Nashville, TN 37212 USA.
[Hollander, Eric] Albert Einstein Coll Med, Dept Psychiat, Bronx, NY 10467 USA.
[Hollander, Eric] Montefiore Med Ctr, Bronx, NY 10467 USA.
[Kishi, Taro] Fujita Hlth Univ, Sch Med, Dept Psychiat, Toyoake, Aichi 47011, Japan.
RP Hirota, T (reprint author), Vanderbilt Univ, Dept Psychiat, Med Ctr, 1601 23rd Ave South 3102 VPH, Nashville, TN 37212 USA.
EM tomoya.hirota@vanderbilt.edu
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NR 36
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 948
EP 957
DI 10.1007/s10803-013-1952-2
PG 10
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900020
PM 24077782
ER
PT J
AU Erickson, CA
Veenstra-Vanderweele, JM
Melmed, RD
McCracken, JT
Ginsberg, LD
Sikich, L
Scahill, L
Cherubini, M
Zarevics, P
Walton-Bowen, K
Carpenter, RL
Bear, M
Wang, P
King, B
AF Erickson, Craig A.
Veenstra-Vanderweele, Jeremy M.
Melmed, Raun D.
McCracken, James T.
Ginsberg, Lawrence D.
Sikich, Linmarie
Scahill, Lawrence
Cherubini, Maryann
Zarevics, Peter
Walton-Bowen, Karen
Carpenter, Randall L.
Bear, Mark F.
Wang, Paul P.
King, Bryan H.
TI STX209 (Arbaclofen) for Autism Spectrum Disorders: An 8-Week Open-Label
Study
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE STX209; Arbaclofen; Gamma-aminobutyric acid (GABA); Autism spectrum
disorder; Clinical trial
ID PERVASIVE DEVELOPMENTAL DISORDERS; FRAGILE-X-SYNDROME; GABA(B)
RECEPTORS; CHILDREN; EXCITATION/INHIBITION; COMMUNICATION; DYSFUNCTION;
MEDICINE; GENETICS; TRIAL
AB STX209 (arbaclofen), a selective GABA-B agonist, is hypothesized to modulate the balance of excitatory to inhibitory neurotransmission, and has shown preliminary evidence of benefit in fragile X syndrome. We evaluated its safety, tolerability, and efficacy in non-syndromic autism spectrum disorders, in an 8-week open-label trial enrolling 32 children and adolescents with either Autistic Disorder or Pervasive Developmental Disorder-Not Otherwise Specified, and a score a parts per thousand yen17 on the Aberrant Behavior Checklist (ABC)-Irritability subscale. STX209 was generally well-tolerated. The most common adverse events were agitation and irritability, which typically resolved without dose changes, and were often felt to represent spontaneous variation in underlying symptoms. Improvements were observed on several outcome measures in this exploratory trial, including the ABC-Irritability (the primary endpoint) and the Lethargy/Social Withdrawal subscales, the Social Responsiveness Scale, the CY-BOCS-PDD, and clinical global impression scales. Placebo-controlled study of STX209 is warranted.
C1 [Erickson, Craig A.] Cincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat, Cincinnati, OH 45229 USA.
[Veenstra-Vanderweele, Jeremy M.] Vanderbilt Univ, Sch Med, Dept Psychiat, Nashville, TN 37212 USA.
[Melmed, Raun D.] Southwest Autism Res & Resource Ctr, Scottsdale, AZ USA.
[McCracken, James T.] Univ Calif Los Angeles, NPI Semel Inst, Los Angeles, CA USA.
[Ginsberg, Lawrence D.] Red Oak Psychiat Associates, Houston, TX USA.
[Sikich, Linmarie] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
[Scahill, Lawrence] Emory Univ, Marcus Autism Ctr, Atlanta, GA 30322 USA.
[Cherubini, Maryann; Zarevics, Peter; Walton-Bowen, Karen; Carpenter, Randall L.; Wang, Paul P.] Seaside Therapeut Inc, Cambridge, MA 02139 USA.
[Bear, Mark F.] MIT, Dept Brain & Cognit Sci, Howard Hughes Med Inst, Picower Inst Learning & Memory, Cambridge, MA 02139 USA.
[King, Bryan H.] Univ Washington, Dept Psychiat & Behav Sci, Seattle Childrens Hosp, Seattle, WA 98195 USA.
RP Wang, P (reprint author), Seaside Therapeut Inc, 840 Mem Dr, Cambridge, MA 02139 USA.
EM pwang@seasidetherapeutics.com
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Posey DJ, 2008, CHILD ADOL PSYCH CL, V17, P787, DOI 10.1016/j.chc.2008.06.010
Rubenstein JLR, 2003, GENES BRAIN BEHAV, V2, P255, DOI 10.1046/j.1601-183X.2003.00037.x
Scahill L., 2012, J AUTISM DEV DISORD, V43, P739
Scahill L, 2006, J CHILD ADOL PSYCHOP, V16, P589, DOI 10.1089/cap.2006.16.589
Silverman J. L., 2012, SCI TRANSL MED, V4
Skafidas E, 2014, MOL PSYCHIATR, V19, P504, DOI 10.1038/mp.2012.126
State MW, 2010, NEURON, V68, P254, DOI 10.1016/j.neuron.2010.10.004
Young Margaret B., 2012, Morbidity and Mortality Weekly Report, V61, P1
Watson C, 2008, ARCH GEN PSYCHIAT, V65, P1315, DOI 10.1001/archpsyc.65.11.1315
Yizhar O, 2011, NATURE, V477, P171, DOI 10.1038/nature10360
NR 31
TC 5
Z9 6
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 958
EP 964
DI 10.1007/s10803-013-1963-z
PG 7
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900021
PM 24272415
ER
PT J
AU Persicke, A
Jackson, M
Adams, AN
AF Persicke, Angela
Jackson, Marianne
Adams, Amanda N.
TI Brief Report: An Evaluation of TAGteach Components to Decrease
Toe-Walking in a 4-Year-Old Child with Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Toe-walking; TAGteach; Autism; Conditioned reinforcement
AB The current study evaluated the effectiveness of using a modified TAGteach (TM) procedure and correction to decrease toe-walking in a 4-year-old boy with autism. Two conditions were analyzed: correction alone and correction with an audible conditioned reinforcing stimulus. Correction alone produced minimal and inconsistent decreases in toe-walking but correction with an audible conditioned stimulus proved most effective in reducing this behavior. This has implications for decreasing toe-walking in other children with autism and may be easily used by teachers and parents.
C1 [Persicke, Angela; Jackson, Marianne; Adams, Amanda N.] Calif State Univ Fresno, Fresno, CA 93740 USA.
RP Persicke, A (reprint author), Autism Res Grp, 19019 Ventura Blvd,Third Floor, Tarzana, CA 91356 USA.
EM a.persicke@autismresearchgroup.org; majackson@csufresno.edu;
aadams@csufresno.edu
CR American Psychiatric Association, 2000, DIAGNOSTIC AND STATI
BARRETT RP, 1981, APPL RES MENT RETARD, V2, P13, DOI 10.1016/0270-3092(81)90003-5
Marcus A, 2010, RES AUTISM SPECT DIS, V4, P260, DOI 10.1016/j.rasd.2009.09.012
Ming X, 2007, BRAIN DEV-JPN, V29, P565, DOI 10.1016/j.braindev.2007.03.002
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SCHOPLER E, 1980, J AUTISM DEV DISORD, V10, P91, DOI 10.1007/BF02408436
NR 6
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 965
EP 968
DI 10.1007/s10803-013-1934-4
PG 4
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900022
PM 24008838
ER
PT J
AU Ozsivadjian, A
Hibberd, C
Hollocks, MJ
AF Ozsivadjian, Ann
Hibberd, Charlotte
Hollocks, Matthew J.
TI Brief Report: The Use of Self-Report Measures in Young People with
Autism Spectrum Disorder to Access Symptoms of Anxiety, Depression and
Negative Thoughts
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Affective disorders; Anxiety disorders; Cognition; Cognitive behavioral
therapy; Emotion; Neurodevelopmental disorders
ID CONTROLLED-TRIAL; CHILDREN; PARENT; ADOLESCENTS; SAMPLE; YOUTH
AB The aims of this study were two-fold; firstly, to investigate whether self-report measures are useful and reflect parent-reported psychiatric symptoms in children with autism spectrum disorder (ASD), and secondly, to investigate whether children with ASD are able to access and report their cognitions, a prerequisite skill for cognitive behavior therapies. Thirty children with ASD and 21 comparison children without ASD completed the Spence Children's Anxiety Scale and the Children's Depression Inventory, with parents completing the parent version of both questionnaires. Intraclass correlations revealed that there was good agreement between ASD children and their parents on both measures, but only on the depression measure in non-ASD children. The children in both groups also completed the Children's Automatic Thoughts Questionnaires; multiple regression analyses indicated that within the ASD group, child-rated scores on the CATS questionnaire were positively related to increased self-reported symptoms of anxiety and depression, but not in the comparison group, suggesting that children with ASD are able to accurately report their anxious and depressed cognitions. The implications of these results for both the practice and theory of CBT for children with ASD are discussed.
C1 [Ozsivadjian, Ann] St Thomas Hosp, Newcomen St Thomas, Childrens Neurosci Dept, London SE1 7EH, England.
[Hibberd, Charlotte] St Thomas Hosp, Newcomen St Thomas, London SE1 7EH, England.
[Hollocks, Matthew J.] Kings Coll London, Dept Child & Adolescent Psychiat, Inst Psychiat, London WC2R 2LS, England.
RP Ozsivadjian, A (reprint author), St Thomas Hosp, Newcomen St Thomas, Childrens Neurosci Dept, Staircase D,South Wing,Westminster Bridge Rd, London SE1 7EH, England.
EM ann.ozsivadjian@gstt.nhs.uk
CR Blakeley-Smith A, 2012, RES AUTISM SPECT DIS, V6, P707, DOI 10.1016/j.rasd.2011.07.020
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Reaven J, 2011, J CHILD PSYCHOL PSYC, V53, P410
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Rutter M., 2003, SOCIAL COMMUNICATION
Schiering C. A., 2007, BEHAV RES THER, V45, P1931
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Wood JJ, 2009, J CHILD PSYCHOL PSYC, V50, P224, DOI 10.1111/j.1469-7610.2008.01948.x
NR 22
TC 5
Z9 5
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 969
EP 974
DI 10.1007/s10803-013-1937-1
PG 6
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900023
PM 24014195
ER
PT J
AU Esposito, G
Rostagno, MD
Venuti, P
Haltigan, JD
Messinger, DS
AF Esposito, Gianluca
Rostagno, Maria del Carmen
Venuti, Paola
Haltigan, John D.
Messinger, Daniel S.
TI Brief Report: Atypical Expression of Distress During the Separation
Phase of the Strange Situation Procedure in Infant Siblings at High Risk
for ASD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Cry; Autism spectrum disorders; Fundamental frequency; Strange
situation; Behavior
ID TYPICAL DEVELOPMENT; SPECTRUM DISORDER; AUTISTIC DISORDER;
YOUNG-CHILDREN; EMOTION; CRY; RESPONSES; LANGUAGE; DELAY; AGE
AB Previous studies have provided preliminary evidence that disruptions in cry acoustics may be part of an atypical vocal signature of autism early in life. We examined the acoustic characteristics of cries extracted from the separation phase of the strange situation procedure in a sample of toddler of younger siblings of a child with autism spectrum disorder-autism spectrum disorders (ASD) (high risk, HR) and a low risk (LR) group. Cry samples derived from vocal recordings of 15-month-old HR (n = 13) and LR infants (n = 14) were subjected to acoustic analyses. HR toddlers, compared to those with LR, produced cries that were shorter and had a higher fundamental frequency (F0). Three HR toddlers later classified with an ASD at 36 months (autistic disorder in all cases) produced cries that had among the highest F0 and shortest durations. Taken together these results indicate that toddlers at high risk for ASD (and those with an ASD) express atypical patterns of distress in response a social stressor. Implications for early diagnosis and parenting are discussed.
C1 [Esposito, Gianluca] RIKEN Brain Sci Inst, Unit Affiliat Social Behav, Saitama, Japan.
[Esposito, Gianluca; Rostagno, Maria del Carmen; Venuti, Paola] Univ Trento, Dept Psychol & Cognit Sci, Trento, Italy.
[Haltigan, John D.] Univ N Carolina, Greensboro, NC 27412 USA.
[Messinger, Daniel S.] Univ Miami, Dept Psychol, Coral Gables, FL 33124 USA.
[Messinger, Daniel S.] Univ Miami, Dept Pediat, Coral Gables, FL 33124 USA.
[Messinger, Daniel S.] Univ Miami, Dept Elect & Comp Engn, Coral Gables, FL 33124 USA.
RP Esposito, G (reprint author), RIKEN Brain Sci Inst, Unit Affiliat Social Behav, Saitama, Japan.
EM gesposito@brain.riken.jp
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American Psychiatric Association, 2004, DIAGNOSTIC AND STATI
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NR 28
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 975
EP 980
DI 10.1007/s10803-013-1940-6
PG 6
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900024
PM 24026913
ER
PT J
AU Erickson, CA
Wink, LK
Early, MC
Stiegelmeyer, E
Mathieu-Frasier, L
Patrick, V
McDougle, CJ
AF Erickson, Craig A.
Wink, Logan K.
Early, Maureen C.
Stiegelmeyer, Elizabeth
Mathieu-Frasier, Lauren
Patrick, Vanessa
McDougle, Christopher J.
TI Brief Report: Pilot Single-Blind Placebo Lead-In Study of Acamprosate in
Youth with Autistic Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Acamprosate; Autism spectrum disorder; Glutamate; Gamma-aminobutyric
acid
ID FRAGILE-X-SYNDROME; PERVASIVE DEVELOPMENTAL DISORDERS; MGLUR5 ANTAGONIST
MPEP; DIAGNOSTIC INTERVIEW; GLUTAMATE RECEPTORS; MENTAL-RETARDATION;
GABA(A) RECEPTOR; RATING-SCALE; MOUSE MODEL; OPEN-LABEL
AB Rationale An excitatory/inhibitory (E:I) imbalance marked by enhanced glutamate and deficient gamma-aminobutyric acid (GABA) neurotransmission may contribute to the pathophysiology of autism spectrum disorders (ASD).
We report on the first single-blind placebo lead-in trial of acamprosate, a drug with putative mechanisms restoring E:I imbalance, in twelve youth with ASD.
We conducted a 12-week single-blind, placebo lead-in study of acamprosate in youth age 5-17 years with autistic disorder.
Six of nine subjects who received active drug treatment were deemed treatment responders (defined by a score at final visit of "very much improved" or "much improved" on the Clinical Global Impressions Improvement scale) and a parts per thousand yen25 % improvement on the Aberrant Behavior Checklist Social Withdrawal subscale.
Future larger-scale dose finding studies of acamprosate in ASD may be warranted given this preliminary indication of benefit.
C1 [Erickson, Craig A.; Wink, Logan K.; Early, Maureen C.; Stiegelmeyer, Elizabeth; Mathieu-Frasier, Lauren; Patrick, Vanessa; McDougle, Christopher J.] Indiana Univ Sch Med, Dept Psychiat, Indianapolis, IN 46202 USA.
[Erickson, Craig A.; Wink, Logan K.; Early, Maureen C.; Stiegelmeyer, Elizabeth; Mathieu-Frasier, Lauren; Patrick, Vanessa; McDougle, Christopher J.] James Whitcomb Riley Hosp Children, Christian Sarkine Autism Treatment Ctr, Indianapolis, IN 46202 USA.
RP Erickson, CA (reprint author), Cincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat, 3333 Burnet Ave,MLC 4002, Cincinnati, OH 45215 USA.
EM craig.erickson@cchmc.org
CR AMAN MG, 1985, AM J MENT DEF, V89, P485
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NR 33
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 981
EP 987
DI 10.1007/s10803-013-1943-3
PG 7
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900025
PM 24052275
ER
PT J
AU Anderson, GM
Stahl, SS
AF Anderson, George M.
Stahl, Sherin S.
TI Two Proposed Early Biomarker Tests of ASD: More Harm Than Good
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Letter
ID TROPHOBLAST INCLUSIONS; AUTISM; CHILDREN; BRAIN
C1 [Anderson, George M.; Stahl, Sherin S.] Yale Univ, Sch Med, Yale Child Study Ctr, Dept Child Psychiat, New Haven, CT 06519 USA.
[Anderson, George M.] Yale Univ, Sch Med, Yale Child Study Ctr, Dept Lab Med, New Haven, CT 06519 USA.
[Stahl, Sherin S.] Yale Univ, Sch Med, Yale Child Study Ctr, Dept Pediat, New Haven, CT 06519 USA.
RP Anderson, GM (reprint author), Yale Univ, Sch Med, Yale Child Study Ctr, Dept Child Psychiat, 230 S Frontage Rd, New Haven, CT 06519 USA.
EM george.anderson@yale.edu
CR Anderson GM, 2007, BIOL PSYCHIAT, V61, P487, DOI 10.1016/j.biopsych.2006.03.068
Bauman MD, 2013, TRANSL PSYCHIAT, V3, DOI 10.1038/tp.2013.47
Braunschweig D, 2013, TRANSL PSYCHIAT, V3, DOI 10.1038/tp.2013.50
Walker CK, 2013, BIOL PSYCHIAT, V74, P204, DOI 10.1016/j.biopsych.2013.03.006
Wingate M., 2012, MMWR SURVEILL SUMM, V61, P1
NR 5
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD APR
PY 2014
VL 44
IS 4
BP 988
EP 989
DI 10.1007/s10803-013-1981-x
PG 2
WC Psychology, Developmental
SC Psychology
GA AC7EB
UT WOS:000332688900026
PM 24174282
ER
PT J
AU Al Jabery, MA
Arabiat, DH
Al Khamra, HA
Betawi, IA
Jabbar, SKA
AF AL Jabery, Mohammad A.
Arabiat, Diana H.
AL Khamra, Hatem A.
Betawi, Iman Amy
Jabbar, Sinaria Kamil Abdel
TI Parental Perceptions of Services Provided for Children with Autism in
Jordan
SO JOURNAL OF CHILD AND FAMILY STUDIES
LA English
DT Article
DE Autism; Parents' satisfaction; Special education; Parent's perceptions;
Services in Jordan
ID SPECTRUM DISORDERS; EDUCATION; DISABILITIES; CARE; COMPLEMENTARY;
SATISFACTION; VOICES; ACCESS; VIEWS; NEEDS
AB Providing formal support for children with autism and their parents is important and mandatory to improve children's abilities and enhance the capabilities of parents. The present study attempted to investigate the perceptions of parents of children with autism regarding the services provided in Jordan. A questionnaire consisting of five sections was designed and distributed to a sample of 60 parents of children with autism (5-18 years old) among four special education institutions in Jordan. The questionnaire addressed five domains: demographics, type and number of received services, methods and difficulties of obtaining services, parents' satisfaction, and parents' perceived needed services. The results revealed that the service delivery system with which parents interacted was composed of multiple places and providers, but had several difficulties. Parents participating in this study expressed an average satisfaction with the received services. Issues pertaining to the cost of services, parents-professional partnerships, and overall quality of services were seen by parents as sources of low satisfaction. On the other hand, parents expressed the need for early intervention, family counseling, and community awareness services. Further suggestions and implications are presented in the study.
C1 [AL Jabery, Mohammad A.; AL Khamra, Hatem A.] Univ Jordan, Dept Counseling & Special Educ, Fac Educ Sci, Amman 11942, Jordan.
[Arabiat, Diana H.] Univ Jordan, Dept Maternal & Child Hlth Nursing, Fac Nursing, Amman 11942, Jordan.
[Betawi, Iman Amy; Jabbar, Sinaria Kamil Abdel] Univ Jordan, Dept Curriculum & Instruct, Fac Educ Sci, Amman 11942, Jordan.
RP Al Jabery, MA (reprint author), Univ Jordan, Dept Counseling & Special Educ, Fac Educ Sci, Amman 11942, Jordan.
EM m.algabery@ju.edu.jo
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NR 36
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1062-1024
EI 1573-2843
J9 J CHILD FAM STUD
JI J. Child Fam. Stud.
PD APR
PY 2014
VL 23
IS 3
BP 475
EP 486
DI 10.1007/s10826-012-9703-0
PG 12
WC Family Studies; Psychology, Developmental; Psychiatry
SC Family Studies; Psychology; Psychiatry
GA AC6RE
UT WOS:000332651300002
ER
PT J
AU Hwang, YS
Kearney, P
AF Hwang, Yoon-Suk
Kearney, Patrick
TI Mindful and Mutual Care for Individuals with Developmental Disabilities:
A Systematic Literature Review
SO JOURNAL OF CHILD AND FAMILY STUDIES
LA English
DT Review
DE Mindfulness; Care; Stress; Developmental disabilities; Autism Spectrum
Disorders
ID PARENTING DECREASES AGGRESSION; INTELLECTUAL DISABILITIES; CHILDREN;
STAFF; CAREGIVERS; BEHAVIOR; AUTISM; REDUCE
AB Parental and professional caregivers of individuals with developmental disabilities (DD) often experience stress and hardship associated with their role, placing them in real danger of burnout and affecting their quality of care. Mindfulness practice is currently being applied to address these issues. We conducted a systematic literature review to explore the effects of mindfulness practice and analyse the intervention and methodological features used for eliciting these effects. An initial search produced 386 publications. Of these, seven met the selection criteria of intervention studies that applied mindfulness to parental and professional caregivers of individuals with DD. We found, from analysis of seven studies, direct effects of mindfulness practice for practitioners (i.e., parental and professional caregivers) and crossover effects for individuals with whom these practitioners interacted (i.e., their children and care recipients). The studies under review collectively suggest that the practice of mindfulness in everyday life over significant periods of time can both improve the experience of care providers and support them in providing a better standard of care for care recipients. Limitations of current mindfulness intervention studies and some implications for future studies are discussed to strengthen the application of mindfulness for individuals influenced by DD.
C1 [Hwang, Yoon-Suk] Griffith Univ, Griffith Inst Educ Res, Mt Gravatt, Qld 4122, Australia.
[Kearney, Patrick] Kalyana Mitta Sangha Assoc Good Friends, Sydney, NSW, Australia.
RP Hwang, YS (reprint author), Griffith Univ, Griffith Inst Educ Res, 176 Messines Ridge Rd, Mt Gravatt, Qld 4122, Australia.
EM yoonsuk.hwang@griffith.edu.au
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NR 22
TC 1
Z9 1
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1062-1024
EI 1573-2843
J9 J CHILD FAM STUD
JI J. Child Fam. Stud.
PD APR
PY 2014
VL 23
IS 3
BP 497
EP 509
DI 10.1007/s10826-012-9707-9
PG 13
WC Family Studies; Psychology, Developmental; Psychiatry
SC Family Studies; Psychology; Psychiatry
GA AC6RE
UT WOS:000332651300004
ER
PT J
AU Ghanizadeh, A
Sahraeizadeh, A
Berk, M
AF Ghanizadeh, Ahmad
Sahraeizadeh, Aliakbar
Berk, Michael
TI A Head-to-Head Comparison of Aripiprazole and Risperidone for Safety and
Treating Autistic Disorders, a Randomized Double Blind Clinical Trial
SO CHILD PSYCHIATRY & HUMAN DEVELOPMENT
LA English
DT Article
DE Autism; Treatment; Aripiprazole; Risperidone; Clinical trial; Randomized
ID PLACEBO-CONTROLLED TRIAL; PEDIATRIC-PATIENTS; ABERRANT BEHAVIOR;
CHILDREN; IRRITABILITY; ADOLESCENTS
AB Aripiprazole and risperidone are the only FDA approved medications for treating irritability in autistic disorder, however there are no head-to-head data comparing these agents. This is the first prospective randomized clinical trial comparing the safety and efficacy of these two medications in patients with autism spectrum disorders. Fifty nine children and adolescents with autism spectrum disorders were randomized to receive either aripiprazole or risperidone for 2 months. The primary outcome measure was change in Aberrant Behavior Checklist (ABC) scores. Adverse events were assessed. Aripiprazole as well as risperidone lowered ABC scores during 2 months. The rates of adverse effects were not significantly different between the two groups. The safety and efficacy of aripiprazole (mean dose 5.5 mg/day) and risperidone (mean dose 1.12 mg/day) were comparable. The choice between these two medications should be on the basis of clinical equipoise considering the patient's preference and clinical profile.
C1 [Ghanizadeh, Ahmad; Sahraeizadeh, Aliakbar] Shiraz Univ Med Sci, Sch Med, Res Ctr Psychiat & Behav Sci, Shiraz, Iran.
[Ghanizadeh, Ahmad; Sahraeizadeh, Aliakbar] Shiraz Univ Med Sci, Sch Med, Dept Psychiat, Shiraz, Iran.
[Berk, Michael] Deakin Univ, Sch Med, Geelong, Vic 3217, Australia.
[Berk, Michael] Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Orygen Res Ctr, Dept Psychiat, Melbourne, Vic, Australia.
RP Ghanizadeh, A (reprint author), Shiraz Univ Med Sci, Sch Med, Res Ctr Psychiat & Behav Sci, Shiraz, Iran.
EM ghanizadeha@hotmail.com
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NR 24
TC 5
Z9 5
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0009-398X
EI 1573-3327
J9 CHILD PSYCHIAT HUM D
JI Child Psychiat. Hum. Dev.
PD APR
PY 2014
VL 45
IS 2
BP 185
EP 192
DI 10.1007/s10578-013-0390-x
PG 8
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AB8YS
UT WOS:000332076700006
PM 23801256
ER
PT J
AU Wu, MS
McGuire, JF
Arnold, EB
Lewin, AB
Murphy, TK
Storch, EA
AF Wu, Monica S.
McGuire, Joseph F.
Arnold, Elysse B.
Lewin, Adam B.
Murphy, Tanya K.
Storch, Eric A.
TI Psychometric Properties of the Children's Yale-Brown Obsessive
Compulsive Scale in Youth with Autism Spectrum Disorders and
Obsessive-Compulsive Symptoms
SO CHILD PSYCHIATRY & HUMAN DEVELOPMENT
LA English
DT Article
DE Obsessive-compulsive disorder; Autism spectrum disorder; Children;
Assessment; Reliability
ID PERVASIVE DEVELOPMENTAL DISORDERS; COGNITIVE-BEHAVIORAL THERAPY;
HIGH-FUNCTIONING AUTISM; MULTIDIMENSIONAL ANXIETY SCALE; DIAGNOSTIC
INTERVIEW; CONTROLLED-TRIAL; PARENT VERSIONS; ADOLESCENTS; RELIABILITY;
DIMENSIONS
AB The psychometric properties of the Children's Yale-Brown Obsessive Compulsive Scale (CY-BOCS) were investigated in 46 treatment-seeking youth, 7-15 years of age, who were diagnosed with an autism spectrum disorder (ASD) and exhibited obsessive-compulsive symptoms. The CY-BOCS Total score exhibited good internal consistency, with differing internal consistencies observed on the Obsession Severity scale (alpha = 0.86) and Compulsion Severity scale (alpha = 0.59). Good to excellent inter-rater reliability was observed for the CY-BOCS Total score and both Severity scales. Convergent and divergent validity of the CY-BOCS Total score and both Severity scales were satisfactory. Insight into obsessive-compulsive symptoms was moderately associated with the CY-BOCS Total score. The CY-BOCS demonstrated treatment sensitivity, demonstrating significant changes in obsessive-compulsive symptoms within a subsample of youth receiving cognitive-behavioral treatment. Overall, the CY-BOCS demonstrated adequate psychometric properties and utility in assessing obsessive-compulsive symptoms in youth with ASD and clinically significant obsessive-compulsive symptoms.
C1 [Wu, Monica S.] Univ S Florida, Rothman Ctr Neuropsychiat, Dept Pediat, St Petersburg, FL 33701 USA.
[Wu, Monica S.; McGuire, Joseph F.; Storch, Eric A.] Univ S Florida, Dept Psychol, Tampa, FL 33620 USA.
[McGuire, Joseph F.; Arnold, Elysse B.; Lewin, Adam B.; Murphy, Tanya K.; Storch, Eric A.] Univ S Florida, Dept Pediat, Morsani Coll Med, Tampa, FL 33620 USA.
[Lewin, Adam B.; Murphy, Tanya K.; Storch, Eric A.] Univ S Florida, Dept Psychiat & Behav Neurosci, Morsani Coll Med, Tampa, FL USA.
RP Wu, MS (reprint author), Univ S Florida, Rothman Ctr Neuropsychiat, Dept Pediat, 880 6th St South,Suite 460,Box 7523, St Petersburg, FL 33701 USA.
EM MonicaWu@mail.usf.edu
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NR 59
TC 1
Z9 1
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0009-398X
EI 1573-3327
J9 CHILD PSYCHIAT HUM D
JI Child Psychiat. Hum. Dev.
PD APR
PY 2014
VL 45
IS 2
BP 201
EP 211
DI 10.1007/s10578-013-0392-8
PG 11
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AB8YS
UT WOS:000332076700008
PM 23827959
ER
PT J
AU Ahmadlou, M
Adeli, A
Bajo, R
Adeli, H
AF Ahmadlou, Mehran
Adeli, Anahita
Bajo, Ricardo
Adeli, Hojjat
TI Complexity of functional connectivity networks in mild cognitive
impairment subjects during a working memory task
SO CLINICAL NEUROPHYSIOLOGY
LA English
DT Article
DE Complexity of functional connectivity networks; Efficiency Complexity;
Graph Index Complexity; Magneto encephalography; Mild cognitive
impairment; Working memory
ID FUZZY SYNCHRONIZATION LIKELIHOOD; AUTISM SPECTRUM DISORDER; EEG-BASED
DIAGNOSIS; GRAY-MATTER LOSS; ALZHEIMERS-DISEASE; GENERALIZED
SYNCHRONIZATION; THETA OSCILLATIONS; WEIGHTED NETWORKS; EPISODIC MEMORY;
BRAIN DYNAMICS
AB Objectives: The objective is to study the changes of brain activity in patients with mild cognitive impairment (MCI). Using magneto-encephalogram (MEG) signals, the authors investigate differences of complexity of functional connectivity network between MCI and normal elderly subjects during a working memory task.
Methods: MEGs are obtained from 18 right handed patients with MCI and 19 age-matched elderly participants without cognitive impairment used as the control group. The brain networks' complexities are measured by Graph Index Complexity (C-r) and Efficiency Complexity (C-e).
Results: The results obtained by both measurements show complexity of functional networks involved in the working memory function in MCI subjects is reduced at alpha and theta bands compared with subjects with control subjects, and at the theta band this reduction is more pronounced in the whole brain and intra left hemisphere.
Conclusions: Ce would be a better measurement for showing the global differences between normal and MCI brains compared with Cr.
Significance: The high accuracy of the classification shows Ce at theta band can be used as an index for assessing deficits associated with working memory, a good biomarker for diagnosis of MCI. (C) 2013 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.
C1 [Ahmadlou, Mehran] Netherlands Inst Neurosci, Amsterdam, Netherlands.
[Adeli, Anahita] Ohio State Univ, Dept Neurol, Columbus, OH 43210 USA.
[Bajo, Ricardo] Ctr Biomed Technol CTB, Lab Cognit & Computat Neurosci UCM UPM, Madrid 28223, Spain.
[Adeli, Hojjat] Ohio State Univ, Dept Biomed Engn, Columbus, OH 43210 USA.
[Adeli, Hojjat] Ohio State Univ, Dept Biomed Informat, Columbus, OH 43210 USA.
[Adeli, Hojjat] Ohio State Univ, Dept Civil Environm & Geodet Engn, Columbus, OH 43210 USA.
[Adeli, Hojjat] Ohio State Univ, Dept Elect & Comp Engn, Columbus, OH 43210 USA.
[Adeli, Hojjat] Ohio State Univ, Dept Neurol Surg, Columbus, OH 43210 USA.
[Adeli, Hojjat] Ohio State Univ, Dept Neurosci, Columbus, OH 43210 USA.
RP Adeli, H (reprint author), Ohio State Univ, Dept Biomed Engn, Columbus, OH 43210 USA.
EM adeli.1@osu.edu
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NR 74
TC 7
Z9 8
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 1388-2457
EI 1872-8952
J9 CLIN NEUROPHYSIOL
JI Clin. Neurophysiol.
PD APR
PY 2014
VL 125
IS 4
BP 694
EP 702
DI 10.1016/j.clinph.2013.08.033
PG 9
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AC3FH
UT WOS:000332400300009
PM 24405905
ER
PT J
AU Blackman, JA
Conaway, MR
AF Blackman, James A.
Conaway, Mark R.
TI Adolescents With Cerebral Palsy: Transitioning to Adult Health Care
Services
SO CLINICAL PEDIATRICS
LA English
DT Article
DE cerebral palsy; adolescents; transition; disability; developmental
pediatrics; behavior
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; QUALITY-OF-LIFE;
BEHAVIORAL-PROBLEMS; YOUNG-ADULTS; CHILDREN; PAIN; COORDINATION;
AGREEMENT; PARENT; FATIGUE
AB Data from the 2009-2010 US National Survey of Children with Special Health Care Needs were examined to determine the health, developmental and behavioral status of adolescents with cerebral palsy (CP) and to assess how well pediatric health care providers were preparing them for transition to adult health care services. Adolescents with CP had no higher rates of attention deficit hyperactivity disorder, depression, anxiety, oppositional or conduct disorders, or autism spectrum than a comparison group. However, those with CP participated less in sports, clubs, or other organized activities (P < .001). Neither group reported much help in coordinating health services or preparing for transition to adult health care services. Inadequate adult health care services have a direct and unsatisfactory impact on the adult life span. Physicians and other health care providers who include adolescents with CP in their practices should begin discussion and planning for transition to adult health care early in adolescence.
C1 [Blackman, James A.; Conaway, Mark R.] Univ Virginia, Charlottesville, VA USA.
[Blackman, James A.] Cerebral Palsy Int Res Fdn, Princeton Jct, NJ 08550 USA.
RP Blackman, JA (reprint author), Cerebral Palsy Int Res Fdn, 186 Princeton Hightstown Roa, Princeton Jct, NJ 08550 USA.
EM jblackman@cpirf.org
FU US Department of Health and Human Services, Health Resources and
Services Administration, Maternal and Child Health Research Program [R40
MC 20610]
FX The author(s) disclosed receipt of the following financial support for
the research, authorship, and/or publication of this article: The study
was supported by grant number R40 MC 20610 from the US Department of
Health and Human Services, Health Resources and Services Administration,
Maternal and Child Health Research Program.
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NR 36
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0009-9228
EI 1938-2707
J9 CLIN PEDIATR
JI Clin. Pediatr.
PD APR
PY 2014
VL 53
IS 4
BP 356
EP 363
DI 10.1177/0009922813510203
PG 8
WC Pediatrics
SC Pediatrics
GA AC0SU
UT WOS:000332205900009
PM 24275216
ER
PT J
AU Alessandrini, A
Cappelletti, A
Zancanaro, M
AF Alessandrini, Andrea
Cappelletti, Alessandro
Zancanaro, Massimo
TI Audio-augmented paper for therapy and educational intervention for
children with autistic spectrum disorder
SO INTERNATIONAL JOURNAL OF HUMAN-COMPUTER STUDIES
LA English
DT Article
DE Autism spectrum disorder; Social competence; Social story;
Audio-augmented paper; Interaction design; Tangible user interface
ID YOUNG-CHILDREN
AB Autism affects children's learning and social development. Commonly used rehabilitative treatments are aimed at stimulating the social skills of children with autism. In this article, we present a prototype and a pilot study on an audio-augmented paper to support the therapy of children with autism spectrum disorder (ASD). The prototype supports audio recording with standard sheets of paper by using tangible tools that can be shared between the therapist and the child. The prototype is a tool for the therapist to engage the child in a storytelling activity. We use a progressive design method based on a dynamic process that merges concept generation, technology benchmarking and activity design into continuously enriching actions. The paper highlights the qualities and benefits of using tangible audio-augmented artefacts for therapy and educational intervention for children with ASD. The work describes three main qualities of our prototype: from building cooperation to attention control, flow control, and using the children's own voices to foster attention. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Alessandrini, Andrea] Univ Dundee, Coll Art Sci & Engn, Dundee DD1 4HN, Scotland.
RP Alessandrini, A (reprint author), Univ Dundee, Coll Art Sci & Engn, Dundee DD1 4HN, Scotland.
EM a.alessandrini@dundee.ac.uk
FU European Commission through the COSPATIAL Project (FP7) [231266]
FX This work has been partially funded by the European Commission through
the COSPATIAL Project (FP7, Grant agreement no. 231266). We would like
to thank the children, their families and the therapists of the
Associazione Genitori Soggetti Autistici del Trentino (A.G.S.A.T.)
education centre in Trento, Italy.
CR Alessandrini A., 2013, P HUM FACT COMP SYST, P505
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NR 35
TC 2
Z9 2
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 1071-5819
EI 1095-9300
J9 INT J HUM-COMPUT ST
JI Int. J. Hum.-Comput. Stud.
PD APR
PY 2014
VL 72
IS 4
BP 422
EP 430
DI 10.1016/j.ijhcs.2013.12.001
PG 9
WC Computer Science, Cybernetics; Ergonomics; Psychology, Multidisciplinary
SC Computer Science; Engineering; Psychology
GA AC2SJ
UT WOS:000332354000005
ER
PT J
AU Haws, ME
Jaramillo, TC
Espinosa, F
Widman, AJ
Stuber, GD
Sparta, DR
Tye, KM
Russo, SJ
Parada, LF
Stavarache, M
Kaplitt, M
Bonci, A
Powell, CM
AF Haws, Michael E.
Jaramillo, Thomas C.
Espinosa, Felipe
Widman, Allie J.
Stuber, Garret D.
Sparta, Dennis R.
Tye, Kay M.
Russo, Scott J.
Parada, Luis F.
Stavarache, Mihaela
Kaplitt, Michael
Bonci, Antonello
Powell, Craig M.
TI PTEN Knockdown Alters Dendritic Spine/Protrusion Morphology, not Density
SO JOURNAL OF COMPARATIVE NEUROLOGY
LA English
DT Article
DE dendrite; spine; amygdale; dentate gyrus; AKT; mTOR; PTEN
ID AUTISM SPECTRUM DISORDERS; LHERMITTE-DUCLOS-DISEASE; TUMOR-SUPPRESSOR
GENE; BEHAVIORAL-TEST BATTERIES; RILEY-RUVALCABA-SYNDROME; GERMLINE
MUTATIONS; MICROSCOPY IMAGES; PREFRONTAL CORTEX; NUCLEUS-ACCUMBENS;
PHOSPHATASE GENE
AB Mutations in phosphatase and tensin homolog deleted on chromosome 10 (PTEN) are implicated in neuropsychiatric disorders including autism. Previous studies report that PTEN knockdown in neurons in vivo leads to increased spine density and synaptic activity. To better characterize synaptic changes in neurons lacking PTEN, we examined the effects of shRNA knockdown of PTEN in basolateral amygdala neurons on synaptic spine density and morphology by using fluorescent dye confocal imaging. Contrary to previous studies in the dentate gyrus, we find that knockdown of PTEN in basolateral amygdala leads to a significant decrease in total spine density in distal dendrites. Curiously, this decreased spine density is associated with increased miniature excitatory postsynaptic current frequency and amplitude, suggesting an increase in number and function of mature spines. These seemingly contradictory findings were reconciled by spine morphology analysis demonstrating increased mushroom spine density and size with correspondingly decreased thin protrusion density at more distal segments. The same analysis of PTEN conditional deletion in the dentate gyrus demonstrated that loss of PTEN does not significantly alter total density of dendritic protrusions in the dentate gyrus, but does decrease thin protrusion density and increases density of more mature mushroom spines. These findings suggest that, contrary to previous reports, PTEN knockdown may not induce de novo spinogenesis, but instead may increase synaptic activity by inducing morphological and functional maturation of spines. Furthermore, behavioral analysis of basolateral amygdala PTEN knockdown suggests that these changes limited only to the basolateral amygdala complex may not be sufficient to induce increased anxiety-related behaviors. J. Comp. Neurol. 522:1171-1190, 2014. (c) 2013 Wiley Periodicals, Inc.
C1 [Haws, Michael E.; Jaramillo, Thomas C.; Espinosa, Felipe; Widman, Allie J.; Powell, Craig M.] Univ Texas SW Med Ctr Dallas, Dept Neurol & Neurotherapeut, Dallas, TX 75390 USA.
[Haws, Michael E.; Powell, Craig M.] Univ Texas SW Med Ctr Dallas, Neurosci Grad Program, Dallas, TX 75390 USA.
[Russo, Scott J.] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY 10029 USA.
[Parada, Luis F.] Univ Texas SW Med Ctr Dallas, Dept Dev Biol, Dallas, TX 75390 USA.
[Stavarache, Mihaela; Kaplitt, Michael] Weill Cornell Med Coll, Dept Neurol Surg, New York, NY 10065 USA.
[Bonci, Antonello] Natl Inst Drug Abuse, Intramural Res Program, Bethesda, MD 21224 USA.
[Stuber, Garret D.; Sparta, Dennis R.; Tye, Kay M.] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA.
[Bonci, Antonello] Johns Hopkins Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD 21287 USA.
[Bonci, Antonello] Johns Hopkins Sch Med, Dept Psychiat, Baltimore, MD 21287 USA.
[Powell, Craig M.] Univ Texas SW Med Ctr Dallas, Dept Psychiat, Dallas, TX 75390 USA.
RP Powell, CM (reprint author), 5323 Harry Hines Blvd, Dallas, TX 75390 USA.
EM craig.powell@utsouthwestern.edu
FU National Institute of Mental Health, National Institutes of Health
[MH081164]; National Institute of Child Health and Human Development,
National Institutes of Health [HD069560]; Autism Speaks; Lowe
Foundation; Crystal Charity Ball; Hartwell Foundation
FX Grant sponsor: National Institute of Mental Health, National Institutes
of Health; Grant number: MH081164 (to C. M. P.); Grant sponsor: National
Institute of Child Health and Human Development, National Institutes of
Health; Grant number: HD069560 (to C. M. P.); Grant sponsor: Autism
Speaks (to C. M. P.); Grant sponsor: Lowe Foundation (to C. M. P.);
Grant sponsor: Crystal Charity Ball (to C. M. P.); Grant sponsor: The
Hartwell Foundation (to C.M.P.).
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NR 74
TC 5
Z9 5
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9967
EI 1096-9861
J9 J COMP NEUROL
JI J. Comp. Neurol.
PD APR 1
PY 2014
VL 522
IS 5
BP 1171
EP 1190
DI 10.1002/cne.23488
PG 20
WC Neurosciences; Zoology
SC Neurosciences & Neurology; Zoology
GA AA3QF
UT WOS:000331006700010
PM 24264880
ER
PT J
AU Stores, RJ
Stores, G
AF Stores, R. J.
Stores, G.
TI The significance of aspects of screening for obstructive sleep apnoea in
children with Down syndrome
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE Down syndrome; obstructive sleep apnoea; screening
ID ABERRANT BEHAVIOR CHECKLIST; YOUNG-CHILDREN; ADOLESCENTS; DISORDERS;
DISTURBANCE; ACTIGRAPHY; VALIDITY; MEDICINE; AUTISM; IMPACT
AB BackgroundThe sleep problems of children with intellectual disabilities remains a relatively neglected topic in spite of the consistent reports that such problems are common, often severe and persistent with potentially serious consequences for the children and their families. Children with Down syndrome (DS) are a case in point. They often suffer from obstructive sleep apnoea (OSA), early detection of which is recommended because of its potentially adverse effects on development. This study is concerned with aspects of assessment that have been considered important in helping to recognise OSA in children with DS. The relationships between different objective measures, and between these measures and parental reports of their child's sleep and daytime behaviour, were explored.
MethodOvernight recordings were carried out on a group of children with DS (n=31) involving video and audio recording, oximetry and activity monitoring during sleep. Parents also completed questionnaires concerning their child's sleep and daytime behaviour.
Results<list list-type="1" id="jir12033-list-0001"> Parents' reports of restless sleep and noisy breathing were supported by objective measures of activity during sleep and audio recording respectively. No significant association was found between objective measures of restlessness during sleep and snoring' (see later for definition), nor were objective measures of restlessness related to reductions in overnight blood oxygen levels. However, the objective measure of snoring was significantly associated with reductions in overnight blood oxygen levels. All three of the objective measures were significantly associated with parental reports of various types of disturbed daytime behaviour.
ConclusionsThe findings have implications for aspects of screening for OSA in children with DS and for the interpretation of the relevance of the results to the children's daytime behaviour.
C1 [Stores, R. J.] Univ Portsmouth, Sch Hlth Sci & Social Work, Portsmouth PO1 2FR, Hants, England.
[Stores, G.] Univ Oxford, Oxford, England.
RP Stores, RJ (reprint author), Univ Portsmouth, Sch Hlth Sci & Social Work, 2 King Richard 1st Rd, Portsmouth PO1 2FR, Hants, England.
EM rebecca.stores@port.ac.uk
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NR 38
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD APR
PY 2014
VL 58
IS 4
BP 381
EP 392
DI 10.1111/jir.12033
PG 12
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AA7PO
UT WOS:000331289600007
PM 23489956
ER
PT J
AU Englund, JA
Decker, SL
Allen, RA
Roberts, AM
AF Englund, Julia A.
Decker, Scott L.
Allen, Ryan A.
Roberts, Alycia M.
TI Common Cognitive Deficits in Children With
Attention-Deficit/Hyperactivity Disorder and Autism: Working Memory and
Visual-Motor Integration
SO JOURNAL OF PSYCHOEDUCATIONAL ASSESSMENT
LA English
DT Article
DE assessment; ADHD; autism; working memory; intelligence
ID EXECUTIVE FUNCTION DEFICITS; SPECTRUM DISORDERS; NEURODEVELOPMENTAL
DISORDERS; HYPERACTIVITY DISORDER; CONSTRUCT-VALIDITY; DOPAMINE THEORY;
FRONTAL-LOBE; ADHD; IMPAIRMENTS; INTELLIGENCE
AB Cognitive deficits in working memory (WM) are characteristic features of Attention-Deficit/Hyperactivity Disorder (ADHD) and autism. However, few studies have investigated cognitive deficits using a wide range of cognitive measures. We compared children with ADHD (n = 49) and autism (n = 33) with a demographically matched control group (n = 79) on a multidimensional battery of cognitive ability. Results confirmed previous research that both groups were characterized by deficits in WM. However, results also suggest verbal WM measures were better predictors than nonverbal WM measures. In addition, measures of visual-motor integration are equally discriminating of children with ADHD and autism from a matched control group. In all, 81% discrimination accuracy was obtained using only WM and visual-motor integration measures. Demonstrated shared deficits in WM and visual-motor integration are explained based on proposed neurological mechanisms common across the two disorders. Clinical implications are discussed.
C1 [Englund, Julia A.; Decker, Scott L.; Roberts, Alycia M.] Univ S Carolina, Dept Psychol, Columbia, SC 29208 USA.
[Allen, Ryan A.] John Carroll Univ, University Hts, OH USA.
RP Englund, JA (reprint author), Univ S Carolina, Dept Psychol, 1512 Pendleton St, Columbia, SC 29208 USA.
EM juliaenglund@gmail.com
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NR 50
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0734-2829
EI 1557-5144
J9 J PSYCHOEDUC ASSESS
JI J. Psychoeduc. Assess.
PD APR
PY 2014
VL 32
IS 2
BP 95
EP 106
DI 10.1177/0734282913505074
PG 12
WC Psychology, Educational
SC Psychology
GA AB2JB
UT WOS:000331617900001
ER
PT J
AU Klubnik, C
Murphy, L
Campbell, JM
Reed, CB
Warner-Metzger, CM
AF Klubnik, Cynthia
Murphy, Laura
Campbell, Jonathan M.
Reed, Colby B.
Warner-Metzger, Christina M.
TI Assessing Understanding of Social Awareness Concepts in Children With
Intellectual Disability and Autism Spectrum Disorder Using the Bracken
Basic Concept Scale-Third Edition
SO JOURNAL OF PSYCHOEDUCATIONAL ASSESSMENT
LA English
DT Article
DE autism spectrum disorders (ASD); preschool; social awareness; school
readiness
ID ADAPTIVE-BEHAVIOR; MIND; ADOLESCENTS; SKILLS; INDIVIDUALS; RECOGNITION;
DYSFUNCTION; DIAGNOSIS; PATTERNS
AB Authors contrasted Bracken Basic Concept Scale: Receptive, Third Edition (BBCS: R-3) test performance between 57 children with intellectual disability (ID) and 76 children with autism spectrum disorder (ASD) and ID. BBCS: R-3 School Readiness Composite (SRC) and Self-/Social Awareness subtests were analyzed. Multivariate analysis of covariance revealed no differences between groups on SRC performance; however, children with ID demonstrated better mastery of self-/social awareness concepts when compared to children with ASD. Within the group of children with ASD, mastery of school-based concepts exceeded mastery of self-/social awareness concepts. Findings suggest relatively greater delays in mastery of self-/social awareness concepts for young children with ASDs when compared to mastery of other concepts.
C1 [Klubnik, Cynthia] Pediat Therapy Profess Inc, Philomath, OR USA.
[Murphy, Laura] Univ Tennessee, Dept Psychiat, Hlth Sci Ctr, Memphis, TN 38105 USA.
[Murphy, Laura; Reed, Colby B.; Warner-Metzger, Christina M.] Univ Tennessee, Boling Ctr Dev Disabil, Hlth Sci Ctr, Memphis, TN 38105 USA.
[Campbell, Jonathan M.] Univ Kentucky, Lexington, KY USA.
RP Murphy, L (reprint author), Univ Tennessee, Dept Psychiat, Hlth Sci Ctr, 711 Jefferson Ave, Memphis, TN 38105 USA.
EM Lmurphy@uthsc.edu
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VIG S, 1995, MENT RETARD, V33, P90
White SW, 2007, J AUTISM DEV DISORD, V37, P1858, DOI 10.1007/s10803-006-0320-x
NR 35
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0734-2829
EI 1557-5144
J9 J PSYCHOEDUC ASSESS
JI J. Psychoeduc. Assess.
PD APR
PY 2014
VL 32
IS 2
BP 157
EP 164
DI 10.1177/0734282913490115
PG 8
WC Psychology, Educational
SC Psychology
GA AB2JB
UT WOS:000331617900006
ER
PT J
AU Bakermans-Kranenburg, MJ
van IJzendoorn, MH
AF Bakermans-Kranenburg, Marian J.
van IJzendoorn, Marinus H.
TI A sociability gene? Meta-analysis of oxytocin receptor genotype effects
in humans
SO PSYCHIATRIC GENETICS
LA English
DT Review
DE rs2254298; prosocial; autism; oxytocin receptor gene; rs53576; OXTR;
meta-analysis
ID OXTR GENE; DIFFERENTIAL SUSCEPTIBILITY; INFANT ATTACHMENT;
SOCIAL-BEHAVIOR; 5-HTT GENES; ASSOCIATION; POLYMORPHISMS; AUTISM;
CHILDHOOD; ENVIRONMENT
AB Variation in the oxytocin receptor (OXTR) gene may partly explain individual differences in oxytocin-related social behavior. Two single nucleotide polymorphisms (SNPs) have been suggested as promising candidates: rs53576 and rs2254298, although the results of studies were not consistent. We carried out meta-analyses for these two SNPs, covering five domains of outcomes: (a) biology, (b) personality, (c) social behavior, (d) psychopathology, and (e) autism, on the basis of 82 pertinent effect sizes, 48 for OXTR rs53576 (N=17 559) and 34 for OXTR rs2254298 (N=13 547). Combined effect sizes did not differ from zero in any of the domains, nor for all domains combined. Clinical status, age, and sex did not moderate the effect sizes. Minor allele frequency was related to ethnicity, with significantly lower minor allele frequencies in samples with predominantly Caucasian participants. The domain of biological functioning seemed most promising, but comprised few studies. We conclude that so far two of the most intensively studied OXTR SNPs (rs53576 and rs2254298) failed to explain a significant part of human social behavior.
C1 [Bakermans-Kranenburg, Marian J.; van IJzendoorn, Marinus H.] Leiden Univ, Ctr Child & Family Studies, NL-2300 RB Leiden, Netherlands.
RP Bakermans-Kranenburg, MJ (reprint author), Leiden Univ, Ctr Child & Family Studies, POB 9555, NL-2300 RB Leiden, Netherlands.
EM bakermans@fsw.leidenuniv.nl
FU Netherlands Organization for Scientific Research (VICI grant)
[453-09-003]; Netherlands Organization for Scientific Research (SPINOZA
prize)
FX M.J.B.-K. and M.H.vI.J. were supported by awards from the Netherlands
Organization for Scientific Research (M.J.B.-K.: VICI grant no.
453-09-003; M.H.vI.J.: SPINOZA prize).
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Tost H, 2011, BIOL PSYCHIAT, V70, P37
van IJzendoorn MH, 2012, TRANSL PSYCHIAT, V2, DOI 10.1038/tp.2012.73
van Ijzendoorn MH, 2010, BIOL PSYCHIAT, V68, P405, DOI 10.1016/j.biopsych.2010.05.008
Walum H, 2012, BIOL PSYCHIAT, V71, P419, DOI 10.1016/j.biopsych.2011.09.002
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NR 62
TC 18
Z9 18
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0955-8829
EI 1473-5873
J9 PSYCHIAT GENET
JI Psychiatr. Genet.
PD APR
PY 2014
VL 24
IS 2
BP 45
EP 51
DI 10.1097/YPG.0b013e3283643684
PG 7
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AC0TY
UT WOS:000332209400001
PM 23921259
ER
PT J
AU Takayama, Y
Hashimoto, R
Tani, M
Kanai, C
Yamada, T
Watanabe, H
Ono, T
Kato, N
Iwanami, A
AF Takayama, Yuko
Hashimoto, Ryuichiro
Tani, Masayuki
Kanai, Chieko
Yamada, Takashi
Watanabe, Hiromi
Ono, Taisei
Kato, Nobumasa
Iwanami, Akira
TI Standardization of the Japanese version of the Glasgow Sensory
Questionnaire (GSQ)
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Sensory sensitivity; Glasgow Sensory
Questionnaire; Autism spectrum quotient
ID AUTISM SPECTRUM DISORDERS; DEVELOPMENTAL DISORDERS; QUOTIENT AQ;
TODDLERS; PERCEPTION; TRAITS; ADULTS; TWIN
AB Individuals with autism spectrum disorders (ASD) often have sensory processing abnormalities. However, limited measures that assess these problems in adults with ASD have been developed till date, particularly in Japan. Robertson and Simmons (2012) developed a self-rating scale to investigate sensory sensitivity: the Glasgow Sensory Questionnaire (GSQ). In the present study, we developed a Japanese version of GSQ and investigated sensory abnormalities in adults with ASD. We compared results of the Japanese version of GSQ in adults between an ASD group (n = 64) and a control group (n = 70). In addition, we also administered these individuals with the autism spectrum quotient (AQ), which is a questionnaire for assessing autistic traits. The Japanese version of GSQ scores was significantly higher in the ASD group than that in the control group. The total GSQ score and each sensory subscale showed a positive correlation with AQ in the total study sample. These results indicate that individuals with pronounced autistic traits have more frequent and extreme sensory processing problems compared with that in individuals with less pronounced autistic traits. We also assessed validity of the new test. Cronbach's alpha of the questionnaire was calculated, and its high value indicates that the Japanese version of GSQ has high reliability. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Takayama, Yuko; Hashimoto, Ryuichiro; Tani, Masayuki; Kanai, Chieko; Yamada, Takashi; Watanabe, Hiromi; Ono, Taisei; Kato, Nobumasa; Iwanami, Akira] Showa Univ, Karasuyama Hosp, Dept Psychiat, Setagaya Ku, Tokyo 1578577, Japan.
[Hashimoto, Ryuichiro] Tokyo Metropolitan Univ, Grad Sch Humanities, Dept Language Sci, Hachioji, Tokyo 1920364, Japan.
[Hashimoto, Ryuichiro; Kato, Nobumasa] CREST, Japan Sci & Technol Agcy, Tokyo, Japan.
RP Hashimoto, R (reprint author), Showa Univ, Karasuyama Hosp, Dept Psychiat, Setagaya Ku, 6-11-11 Kitakarasuyama, Tokyo 1578577, Japan.
EM dbridges50@gmail.com
CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 28
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2014
VL 8
IS 4
BP 347
EP 353
DI 10.1016/j.rasd.2013.12.017
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AC3NS
UT WOS:000332429100001
ER
PT J
AU Mannion, A
Leader, G
AF Mannion, Arlene
Leader, Geraldine
TI Epilepsy in autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Autism spectrum disorders; Epilepsy; Seizures; Comorbidity; Treatment
ID COGNITIVE-BEHAVIORAL THERAPY; RANDOMIZED CONTROLLED-TRIAL;
DRUG-REFRACTORY EPILEPSY; COMMITMENT THERAPY; CHILDHOOD EPILEPSY; EEG
ABNORMALITIES; CHILDREN; ACCEPTANCE; DEPRESSION; IMPACT
AB The purpose of this review is to provide an overview of the research on epilepsy in autism spectrum disorder (ASD). Topics explored are the prevalence of epilepsy in ASD, the importance of studying epilepsy, as well as the questionnaire measures used to assess epilepsy side-effects. Research on the relationships between epilepsy and parental stress and psychological distress, developmental regression, language and communication, adaptive behavior, social skills, autism severity, challenging behavior, comorbid psychopathology, gastrointestinal symptoms, sleep problems, sensory issues and quality of life are also discussed. Finally, recommendations for treatment are given as well as areas where future research is needed. (C) 2014 Published by Elsevier Ltd.
C1 [Mannion, Arlene; Leader, Geraldine] Natl Univ Ireland, Galway, Ireland.
RP Leader, G (reprint author), Natl Univ Ireland, Sch Psychol, Irish Ctr Autism & Neurodev Res, Galway, Ireland.
EM geraldine.leader@nuigalway.ie
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NR 49
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2014
VL 8
IS 4
BP 354
EP 361
DI 10.1016/j.rasd.2013.12.012
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AC3NS
UT WOS:000332429100002
ER
PT J
AU Sappok, T
Gaul, I
Bergmann, T
Dziobek, I
Bolte, S
Diefenbacher, A
Heinrich, M
AF Sappok, Tanja
Gaul, Isabell
Bergmann, Thomas
Dziobek, Isabel
Bolte, Sven
Diefenbacher, Albert
Heinrich, Manuel
TI The Diagnostic Behavioral Assessment for autism spectrum
disorder-Revised: A screening instrument for adults with intellectual
disability suspected of autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Intellectual disability; Diagnostics;
Psychometric properties; Adults
ID PERVASIVE DEVELOPMENTAL DISORDERS; OVERT AGGRESSION SCALE;
QUALITY-OF-LIFE; CHALLENGING BEHAVIOR; PSYCHOTROPIC MEDICATION;
MENTAL-RETARDATION; ASD-DA; PREVALENCE; CHILDREN; QUESTIONNAIRE
AB Given the strong association between intellectual disability (ID) and autism spectrum disorder (ASD), standardized instruments for the assessment of ASD in adults with ID are desirable. The Diagnostic Behavioral Assessment for ASD - Revised (DiBAS-R) is a DSM-5/ICD-10 based caregiver-report screening tool that consists of 19 Likert-scaled items. This study evaluated the item-validities, item-difficulties, item-variances, part-whole corrected item total-correlations, reliability, and the factorial, diagnostic, and convergent/discriminant validities of the DiBAS-R in a clinical, adult ID sample (N = 219). Factor analysis yielded two consistent dimensions; i.e., social interaction/communication and stereotypy/rigidity/sensory abnormalities. The diagnostic validity was adequate, as reflected by an area under the curve of 0.89 and balanced sensitivity and specificity values of 81%. The DiBAS-R total scores were significantly correlated with the Social Communication Questionnaire (r = 0.52), the Scale for Pervasive Developmental Disorders in Mentally Retarded Persons (r = 0.50), and the Autism-Checklist (r = 0.59), while no significant correlation with the Modified Overt Aggression Scale was observed. The interrater reliability was excellent (ICC = 0.88). These findings indicate that the DiBAS-R is a promising and psychometrically sound instrument for ASD screening of adults with ID. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Sappok, Tanja; Gaul, Isabell; Bergmann, Thomas; Diefenbacher, Albert; Heinrich, Manuel] Evangel Krankenhaus Konigin Elisabeth Herzberge, Abt Psychiat Psychotherapie & Psychosomat, D-10365 Berlin, Germany.
[Dziobek, Isabel] Free Univ Berlin, Cluster Excellence Languages Emot, D-14195 Berlin, Germany.
[Bolte, Sven] Karolinska Inst, Ctr Neurodev Disorders, Dept Womens & Childrens Hlth, SE-17177 Stockholm, Sweden.
RP Sappok, T (reprint author), Evangel Krankenhaus Konigin Elisabeth Herzberge, Abt Psychiat Psychotherapie & Psychosomat, Herzbergstr 79, D-10365 Berlin, Germany.
EM t.sappok@keh-berlin.de
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NR 73
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2014
VL 8
IS 4
BP 362
EP 375
DI 10.1016/j.rasd.2013.12.016
PG 14
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AC3NS
UT WOS:000332429100003
ER
PT J
AU Stasolla, F
Damiani, R
Caffo, AO
AF Stasolla, Fabrizio
Damiani, Rita
Caffo, Alessandro O.
TI Promoting constructive engagement by two boys with autism spectrum
disorders and high functioning through behavioral interventions
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Behavioral interventions; Constructive
engagement; Stereotyped behaviors; Multi-elements baseline design
ID SOCIAL-SKILLS INTERVENTIONS; SCANNING KEYBOARD EMULATOR; MOTOR
DISABILITIES; MULTIPLE DISABILITIES; ADAPTIVE BEHAVIORS; YOUNG-CHILDREN;
INDIVIDUALS; TECHNOLOGY; SEVERITY; STUDENTS
AB We assessed a behavioral intervention-based strategy to promote constructive engagement and to reduce stereotyped behaviors by two boys with autism spectrum disorders and high functioning. The program included two functional activities for each participant (i.e. coloring and using a personal computer with a multimedia software for reading and writing) according to a multi-elements baseline design, during classroom. Both participants showed a preference for the computer activity during the choice phase. Results showed an increasing of constructive engagement, according to both functional activities, and a reduction of stereotyped behaviors during intervention phases for both participants. Psychological as well as practical implications of the findings are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Stasolla, Fabrizio] Lega del Filo dOro Res Ctr, Molfetta, Italy.
[Damiani, Rita; Caffo, Alessandro O.] Univ Bari, Dept Educ Sci, I-70121 Bari, Italy.
RP Stasolla, F (reprint author), Lega del Filo dOro Res Ctr, Molfetta, Italy.
EM f.stasolla@psico.uniba.it
CR Barlow D. H., 2006, SINGLE CASE EXPERIME
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NR 34
TC 6
Z9 6
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2014
VL 8
IS 4
BP 376
EP 380
DI 10.1016/j.rasd.2013.12.020
PG 5
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AC3NS
UT WOS:000332429100004
ER
PT J
AU Tsai, PH
Chen, MH
Su, TP
Chen, YS
Hsu, JW
Huang, KL
Chang, WH
Chen, TJ
Bai, YM
AF Tsai, Po-Hsin
Chen, Mu-Hong
Su, Tung-Ping
Chen, Ying-Sheue
Hsu, Ju-Wei
Huang, Kai-Lin
Chang, Wen-Han
Chen, Tzeng-Ji
Bai, Ya-Mei
TI Increased risk of autism spectrum disorder among early life asthma
patients: An 8-year nationwide population-based prospective study
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Allergy; Asthma; Wheezing
ID HEALTH-CARE USE; 1ST 6 YEARS; DEVELOPMENTAL-DISABILITIES;
AUTOIMMUNE-DISEASES; CHILDHOOD AUTISM; MATERNAL SMOKING; CHILDREN;
PREVALENCE; COHORT; ADOLESCENCE
AB Previous research has suggested an association between autism spectrum disorder (ASD) and allergic disorders, but epidemiological evidence regarding asthma remains limited. We conducted a nationwide population-based prospective cohort study (1:4 case:control patients, age- and gender-matched), hypothesizing that asthma in infancy or toddlerhood increased the risk of ASD. The participants comprised 2134 asthmatic infants and children and 8536 controls aged 0-3 years in 2002. We identified cases of ASD that occurred near the end of the follow-up period (December 31, 2010), determining that asthmatic infants and children exhibited a higher accumulative incidence rate of ASD than did the controls (1.3% vs 0.7%, P = .007). After adjusting for age at enrollment, gender, level of urbanization, and comorbid allergic diseases (i.e., allergic rhinitis and atopic dermatitis), asthmatic infants and children exhibited an elevated risk of developing ASD (hazard ratio: 2.01, 95% confidence interval: 1.19-3.40). This prospective study indicated a temporal relation between asthma and subsequent ASD diagnosis, supporting the immune hypothesis of ASD pathogenesis. Further studies are required to clarify the probable interactional effects between these disorders and define a homogenous ASD subgroup. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Tsai, Po-Hsin] Chang Gung Mem Hosp, Dept Psychiat, Keelung 204, Taiwan.
[Chen, Mu-Hong; Su, Tung-Ping; Chen, Ying-Sheue; Hsu, Ju-Wei; Huang, Kai-Lin; Chang, Wen-Han; Bai, Ya-Mei] Taipei Vet Gen Hosp, Dept Psychiat, Taipei 112, Taiwan.
[Su, Tung-Ping; Bai, Ya-Mei] Natl Yang Ming Univ, Coll Med, Dept Psychiat, Taipei 112, Taiwan.
[Chen, Tzeng-Ji] Taipei Vet Gen Hosp, Dept Family Med, Taipei 112, Taiwan.
[Chen, Tzeng-Ji] Natl Yang Ming Univ, Inst Hosp & Hlth Care Adm, Taipei 112, Taiwan.
RP Bai, YM (reprint author), Taipei Vet Gen Hosp, Dept Psychiat, 201,Sect 2,Shipai Rd, Taipei 112, Taiwan.
EM pohsintsai@gmail.com; ymbi@mail2000.com.tw
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NR 38
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2014
VL 8
IS 4
BP 381
EP 386
DI 10.1016/j.rasd.2013.12.022
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AC3NS
UT WOS:000332429100005
ER
PT J
AU Hoppenbrouwers, M
Vandermosten, M
Boets, B
AF Hoppenbrouwers, Margot
Vandermosten, Maaike
Boets, Bart
TI Autism as a disconnection syndrome: A qualitative and quantitative
review of diffusion tensor imaging studies
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Autism spectrum disorder; Diffusion tensor imaging; Review; Brain
connectivity; Fibre tracking
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; MATTER
FRACTIONAL ANISOTROPY; CEREBRAL WHITE-MATTER; SPECTRUM DISORDER; NEURAL
SYSTEMS; SPATIAL-STATISTICS; BRAIN CONNECTIVITY; CORPUS-CALLOSUM;
FRONTAL-LOBE
AB This review aims at evaluating the leading hypothesis of lower long-range and greater short-range cortical connectivity in individuals with autism spectrum disorder (ASD) by the available literature on diffusion tensor imaging (DTI) studies. DTI, coupled with tractography, assesses the structural connections between cortical regions and quantifies their white matter integrity. First, we provide an extensive qualitative overview of DTI findings in ASD. Next, to reveal convergence between studies, results are quantitatively analyzed using Activation Likelihood Estimation (ALE) and fibre tracking is performed to visualize the white matter tracts running through the obtained ALE clusters. Finally, findings from DTI research are related to specific symptoms characteristic of ASD. Overall, the qualitative analysis yields a widespread disruption of white matter integrity in the brain of individuals with ASD as compared to typically developing controls. This is the case for both the long-range and the local short-range connections, partially contradicting the leading hypothesis. However, several studies investigating very young children with ASD report greater structural connectivity, suggesting a developmental switch in white matter integrity in the ASD brain. Based on the combined qualitative and quantitative analysis, the corpus callosum and the ventral tracts emerge as particularly affected connections in individuals with ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hoppenbrouwers, Margot; Boets, Bart] Univ Leuven KU Leuven, B-3000 Louvain, Belgium.
[Vandermosten, Maaike] Univ Leuven KU Leuven, Ctr Parenting Child Welf & Disabil, B-3000 Louvain, Belgium.
[Boets, Bart] Univ Leuven KU Leuven, Leuven Autism Res Consortium, B-3000 Louvain, Belgium.
RP Boets, B (reprint author), Univ Leuven KU Leuven, Herestraat 49,Box 7003, B-3000 Louvain, Belgium.
EM bart.boets@ppw.kuleuven.be
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NR 123
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2014
VL 8
IS 4
BP 387
EP 412
DI 10.1016/j.rasd.2013.12.018
PG 26
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AC3NS
UT WOS:000332429100006
ER
PT J
AU Strauss, K
Esposito, M
Polidori, G
Vicari, S
Valeri, G
Fava, L
AF Strauss, Kristin
Esposito, Marco
Polidori, Giorgia
Vicari, Stefano
Valeri, Giovanni
Fava, Leonardo
TI Facilitating play, peer engagement and social functioning in a peer
group of young autistic children: Comparing highly structured and more
flexible behavioral approaches
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Play; Engagement; Social functioning
ID PERVASIVE DEVELOPMENTAL DISORDERS; JOINT ATTENTION; SYMBOLIC PLAY;
PRETEND PLAY; SKILLS; IMITATION; LANGUAGE; SPECTRUM; PRESCHOOL; SYMPTOMS
AB This study examined the differential effect of a highly structured adult-directed behavioral treatment condition and a more flexible child-oriented blending of behavioral and developmental treatment strategies in a clinical group setting with autistic children. The children with autism following the more flexible child-oriented treatment condition engaged significantly more in higher-order play activities allowing for peer proximity and demonstrated better social functioning during activities with other autistic peers. A relation of child-oriented teaching utilizing less intrusive prompting to more developmentally appropriate play as well as social functioning was found. The findings suggest that child-oriented play and social skill interventions in the clinical context, although being applied in a group of autistic children, may facilitate social functioning and engagement. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Strauss, Kristin; Esposito, Marco; Fava, Leonardo] Autism Treatment & Res Ctr Una Breccia Nel Muro, Rome, Italy.
[Strauss, Kristin] Ernst Moritz Arndt Univ Greifswald, Dept Hlth & Prevent, Greifswald, Germany.
[Polidori, Giorgia] Univ Roma La Sapienza, Dept Psychol, I-00185 Rome, Italy.
[Vicari, Stefano; Valeri, Giovanni] Childrens Hosp Bambino Gesu, Dept Neurosci, Rome, Italy.
RP Fava, L (reprint author), Assoc Volontariato Una Breccia Nel Muro, Rome, Italy.
EM supersghy@yahoo.it
CR Adrien J L, 1992, Acta Paedopsychiatr, V55, P71
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NR 42
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2014
VL 8
IS 4
BP 413
EP 423
DI 10.1016/j.rasd.2014.01.002
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AC3NS
UT WOS:000332429100007
ER
PT J
AU Katagiri, M
Miya, K
Matsui, M
AF Katagiri, Masatoshi
Miya, Kazushi
Matsui, Mie
TI Difficulty of crossmodal processing in individuals with autism spectrum
disorders: An audio-visual gap/overlap paradigm study
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Gap/overlap task; Crossmodal processing;
Attention
ID HIGH-FUNCTIONING AUTISM; GAP OVERLAP TASK; ASPERGERS-DISORDER;
MULTISENSORY INTEGRATION; SPEECH INTEGRATION; SHIFTING ATTENTION;
SPATIAL ATTENTION; NO EVIDENCE; CHILDREN; LEVEL
AB Evidence suggests that individuals with autism spectrum disorders (ASD) exhibit difficulty in integrating crossmodal information. However, few previous studies have investigated crossmodal attention switching in individuals with ASD. The present study investigates whether children with ASD have difficulty in crossmodal processing across auditory and visual modalities. For this study, we observed 10 children with ASD and 11 IQ-, age-, and gender-matched, healthy, control children. We used a modified gap/overlap task that required the simultaneous allocation of attention to auditory and visual stimuli (audiovisual gap/overlap task). In addition, the visual-only gap/overlap task used a classical gap/overlap procedure. In the visual-only gap/overlap task, children with ASD exhibited the same performance as control children. In contrast, in the audio-visual condition, children with ASD were significantly slower to respond than control children in both the gap and overlap tasks. In addition, the gap effects between the ASD and control groups were observed in each condition, but no significant group differences were observed. These results suggest that children with ASD exhibit difficulty in simultaneously allocating attentional resources to auditory and visual modalities although children with ASD are intact in disengagement of attention. These findings provide important insights regarding crossmodal processing in ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Katagiri, Masatoshi; Matsui, Mie] Toyama Univ, Grad Sch Med, Dept Neuropsychol, Toyama 9300194, Japan.
[Miya, Kazushi] Toyama Univ, Dept Pediat, Toyama 9300194, Japan.
RP Katagiri, M (reprint author), Toyama Univ, Grad Sch Med, Dept Neuropsychol, 2630 Sugitani, Toyama 9300194, Japan.
EM katagiri@las.u-toyama.ac.jp
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NR 40
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2014
VL 8
IS 4
BP 424
EP 431
DI 10.1016/j.rasd.2014.01.001
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AC3NS
UT WOS:000332429100008
ER
PT J
AU Mannion, A
Leader, G
AF Mannion, Arlene
Leader, Geraldine
TI Attention-deficit/hyperactivity disorder (AD/HD) in autism spectrum
disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Review
DE Autism spectrum disorders; Attention-deficit/hyperactivity disorder
(AD/HD); Comorbidity; Treatment
ID DEFICIT HYPERACTIVITY DISORDER; COMORBID ASD; PHARMACOLOGICAL-TREATMENT;
PEDIATRIC-PATIENTS; TANTRUM BEHAVIOR; SLEEP PROBLEMS; ADHD SYMPTOMS;
CHILDREN; METAANALYSIS; PROFILES
AB The purpose of this review is to provide an overview of the research on attention-deficit/hyperactivity disorder (AD/HD) in individuals with autism spectrum disorder (ASD). Topics explored are the prevalence of AD/HD, the importance of studying AD/HD, as well as the questionnaire measures used to measure AD/HD in individuals with ASD. Research on the relationship between AD/HD in ASD and parental stress and psychological distress, developmental regression, language and communication, adaptive behavior, social skills, autism severity, challenging behavior, comorbid psychopathology, gastrointestinal symptoms, sleep problems, epilepsy, sensory issues, motor difficulties, and quality of life are also discussed. Research on cardiac reactivity and executive functioning are also explored. Finally, recommendations for treatment are given as well as areas where future research is needed. (C) 2014 Published by Elsevier Ltd.
C1 [Mannion, Arlene; Leader, Geraldine] Natl Univ Ireland, Galway, Ireland.
RP Leader, G (reprint author), Natl Univ Ireland, Irish Ctr Autism & Neurodev Res, Galway, Ireland.
EM geraldine.leader@nuigalway.ie
CR Achenbach TM, 2001, MANUAL ASEBA SCH AGE
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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Tanabe T., 2014, BRAIN DEV IN PRESS
Taurines Regina, 2012, Atten Defic Hyperact Disord, V4, P115, DOI 10.1007/s12402-012-0086-2
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van Steijn DJ, 2013, J AUTISM DEV DISORD, V43, P1935, DOI 10.1007/s10803-012-1746-y
NR 55
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2014
VL 8
IS 4
BP 432
EP 439
DI 10.1016/j.rasd.2013.12.021
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AC3NS
UT WOS:000332429100009
ER
PT J
AU Lee, R
Sturmey, P
AF Lee, Ronald
Sturmey, Peter
TI The effects of script-fading and a Lag-1 schedule on varied social
responding in children with autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Response variability; Scripting; Social skills; Autism
ID INTERACTION SKILLS; VARIABILITY; OPERANT; DISABILITIES
AB This study investigated the effects of a script-fading procedure and a Lag-1 reinforcement schedule with repeated trials contingent on repeated responses on varied responding during brief conversations by one girl and two boys with autism. The experiment used a multiple-baseline-across-participants design. During baseline (Lag-0), the experimenter reinforced appropriate responding during a brief three-turn conversation. During scripting and script-fading, the experimenter gave participants audio taped models to imitate in response to experimenter-delivered antecedents in the conversation. During Lag-1 with repeated trials, the experimenter delivered reinforcement contingent on appropriate and varied responding in any part of the social conversation. During the Lag-0, participants emitted low levels of appropriate and varied responding. During scripting the participants emitted increased appropriate and varied responding. This systematically decreased to baseline levels during the return to Lag-0. During Lag-1 with repeated trials, participants increased varied and appropriate responding to levels similar to that seen during scripting. Generalization of varied responding to different settings, people, and conversations did not occur. These results are discussed in terms of extinction-induced variability and stimulus control. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Lee, Ronald; Sturmey, Peter] Queens Coll, Flushing, NY USA.
[Lee, Ronald; Sturmey, Peter] CUNY Grad Sch & Univ Ctr, New York, NY USA.
RP Lee, R (reprint author), QSAC Day Sch, 12-10 150th St, Whitestone, NY 11357 USA.
EM rlee@qsac.com
CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th
DAY HM, 1989, J APPL BEHAV ANAL, V22, P223, DOI 10.1901/jaba.1989.22-223
DeLeon IG, 1996, J APPL BEHAV ANAL, V29, P519, DOI 10.1901/jaba.1996.29-519
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NR 15
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2014
VL 8
IS 4
BP 440
EP 448
DI 10.1016/j.rasd.2014.01.003
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AC3NS
UT WOS:000332429100010
ER
PT J
AU Deckers, A
Roelofs, J
Muris, P
Rinck, M
AF Deckers, Anne
Roelofs, Jeffrey
Muris, Peter
Rinck, Mike
TI Desire for social interaction in children with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Children; Desire for social interaction;
Approach and avoidance tendencies
ID PERVASIVE DEVELOPMENTAL DISORDERS; HIGH-FUNCTIONING CHILDREN;
PSYCHOPATHOLOGY; INTERVENTIONS; MOTIVATION
AB In this experimental clinical study, a first attempt was made to examine the desire for social interaction in children with autism spectrum disorders (ASD). Children with ASD and typically developing (TD) children completed both an explicit measure (self-report) and an implicit measure (Face Turn Approach-Avoidance Task) of the desire for social interaction. On the explicit assessment, children with ASD clearly displayed lower scores reflecting less desire for social interaction than TO children. On the implicit assessment, children with ASD showed a stronger tendency to pull both social and non-social stimuli towards them, which indicates a general automatic tendency towards approach, as compared to the TO children. Possible reasons for this dissociation between the explicit and implicit desire for social interaction are discussed and directions for future research are provided. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Deckers, Anne; Roelofs, Jeffrey; Muris, Peter] Maastricht Univ, Fac Psychol & Neurosci, RIAGG Maastricht Child & Youth Care, NL-6200 MD Maastricht, Netherlands.
[Deckers, Anne; Roelofs, Jeffrey; Muris, Peter] Maastricht Univ, Fac Psychol & Neurosci, Dept Clin Psychol Sci, NL-6200 MD Maastricht, Netherlands.
[Rinck, Mike] Radboud Univ Nijmegen, Inst Behav Sci, NL-6525 ED Nijmegen, Netherlands.
RP Deckers, A (reprint author), Maastricht Univ, Fac Psychol & Neurosci, Dept Clin Psychol Sci, Postbox 616, NL-6200 MD Maastricht, Netherlands.
EM anne.deckers@maastrichtuniversity.nl
RI Rinck, Mike/A-6944-2010
CR American Psychiatric Association, 2000, DSM 4 TR DIAGN STAT, VFourth
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NR 23
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD APR
PY 2014
VL 8
IS 4
BP 449
EP 453
DI 10.1016/j.rasd.2013.12.019
PG 5
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AC3NS
UT WOS:000332429100011
ER
PT J
AU McConnell, D
Savage, A
Breitkreuz, R
AF McConnell, David
Savage, Amber
Breitkreuz, Rhonda
TI Resilience in families raising children with disabilities and behavior
problems
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Family; Disabilities; Resilience; Social ecology; Behavior problems
ID AUTISM SPECTRUM DISORDER; MATERNAL SOCIAL SUPPORT; DOUBLE ABCX MODEL;
QUALITY-OF-LIFE; INTELLECTUAL DISABILITIES; MENTAL-HEALTH;
DEVELOPMENTAL-DISABILITIES; YOUNG-CHILDREN; PRESCHOOL-CHILDREN;
DISABLED-CHILDREN
AB The purpose of this study was to investigate the resilience displayed by families raising children with disabilities and behavior problems. The question is why do some families do well when others, exposed to similar stressors, struggle to keep their family life running? A stratified (by child age group) random sample of 538 families raising children with disabilities in Alberta, Canada took part. Participants completed the Family Life Survey, which incorporated measures of child behavior problems, social-ecological resources and family-level 'outcomes'. Families raising children with disabilities and behavior problems 'do well' under conditions of high social support and low financial hardship. In contrast, families with low levels of social support and high levels of financial hardship typically struggle, even when the number or intensity of child behavior problems is low. The study findings are consistent with the view that 'resilience' has more to do with the availability and accessibility of culturally relevant resources than with intrinsic, individual or family factors. With respect to family-level outcomes, strengthening social relationships and ameliorating financial hardship may be more important than behavior modification. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [McConnell, David; Savage, Amber] Univ Alberta, Family & Disabil Studies Initiat, Edmonton, AB T6G 2G4, Canada.
[Breitkreuz, Rhonda] Univ Alberta, Edmonton, AB T6G 2N1, Canada.
RP McConnell, D (reprint author), Univ Alberta, Family & Disabil Studies Initiat, 3-66 Corbett Hall, Edmonton, AB T6G 2G4, Canada.
EM david.mcconnell@ualberta.ca; amsavage@ualberta.ca;
rhonda.breitkreuz@ualberta.ca
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NR 137
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD APR
PY 2014
VL 35
IS 4
BP 833
EP 848
DI 10.1016/j.ridd.2014.01.015
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AC3NK
UT WOS:000332428300009
PM 24491480
ER
PT J
AU Meral, BF
Fidan, A
AF Meral, Bekir Fatih
Fidan, Ahmet
TI Psychometric properties of the screening tool of feeding problems (STEP)
in Turkish children with ASD
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Screening tool of feeding problems (STEP); Children with autism spectrum
disorders (ASD); Feeding problems; Confirmatory factor analysis;
Validity; Reliability
ID AUTISM SPECTRUM DISORDERS; CONFIRMATORY FACTOR-ANALYSIS; OF-FIT INDEXES;
INTELLECTUAL DISABILITIES; MEALTIME BEHAVIOR; FOOD SELECTIVITY;
SAMPLE-SIZE; ASSOCIATION; CHILDHOOD; SYMPTOMS
AB The purpose of this study is to determine the psychometric properties of the screening tool of feeding problems (STEP) in Turkish children with autism spectrum disorders (ASD). After providing linguistic equivalence of the scale, STEP was applied to 360 mothers on behalf of their children with ASD in order to determine the associated feeding problems. The scale which has 5 sub-domains and 3 Likert-type questions originally consisted of 23 items. Item-total correlations of the scale were acceptable, with the exception of item 8 and the differences between the item averages of the upper 27% and the lower 27% groups were significant (p < 0.001). The internal consistency coefficient (alpha = 0.81) and the splithalf reliability (Spearman's rho = 0.69**) were high. The STEP achieved criterion-related validity. The results of Confirmatory Factor Analysis (X-2/df = 3.2, RMSEA = 0.08, SRMR= 0.08, GFI= 0.85, AGFI= 0.81, CFI = 0.86) showed that the scale has an acceptable goodness of fit. This study suggests that the Turkish version of the STEP could be a useful assessment tool when it comes to measuring feeding problems in children with ASD. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Meral, Bekir Fatih; Fidan, Ahmet] Sakarya Univ, Fac Educ, Dept Special Educ, TR-54300 Hendek, Sakarya, Turkey.
RP Meral, BF (reprint author), Sakarya Univ, Fac Educ, Dept Special Educ, TR-54300 Hendek, Sakarya, Turkey.
EM bfmeral@gmail.com; ahmetfidan86@gmail.com
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NR 53
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD APR
PY 2014
VL 35
IS 4
BP 908
EP 916
DI 10.1016/j.ridd.2014.01.008
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AC3NK
UT WOS:000332428300014
PM 24529859
ER
PT J
AU Carlson, K
AF Carlson, Kelly
TI Autism and Spirituality
SO ISSUES IN MENTAL HEALTH NURSING
LA English
DT Book Review
C1 [Carlson, Kelly] Covenant Hlth Syst, Knoxville, TN 37922 USA.
RP Carlson, K (reprint author), Covenant Hlth Syst, Knoxville, TN 37922 USA.
CR Bogdashina O, 2013, AUTISM SPIRITUALITY
NR 1
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 0161-2840
EI 1096-4673
J9 ISSUES MENT HEALTH N
JI Issues Ment. Health Nurs.
PD APR
PY 2014
VL 35
IS 4
SI SI
BP 316
EP 316
DI 10.3109/01612840.2014.890474
PG 1
WC Nursing; Psychiatry
SC Nursing; Psychiatry
GA CG3XU
UT WOS:000353213700013
ER
PT J
AU Lee, CYQ
Anderson, A
Moore, DW
AF Lee, Clara Yun Qi
Anderson, Angelika
Moore, Dennis W.
TI Using Video Modeling to Toilet Train a Child with Autism
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Autism; Toilet-training; Video modeling
ID SPECTRUM DISORDERS; INDIVIDUALS; INTERVENTIONS; INSTRUCTION; QUESTIONS;
SKILLS
AB This study investigated the effects of an instructional package which included the use of custom-made video models together with picture prompts and reinforcement to toilet train a 4-year-old boy diagnosed with autism. Six components of toileting were identified during a task analysis: Walking to the toilet, undressing, sitting on the toilet, eliminating in the toilet, redressing, and flushing. A changing criterion design was employed to assess the effects of the intervention. Results showed that the intervention package was effective in teaching the functional skills of dressing, sitting on the toilet and flushing, skills which generalized to a second setting. However, it did not result in the acquisition of reliable in-toilet voiding. The current study contributes to the small body of research literature regarding toilet training and video modeling, highlighting the attention to detail required when undertaking interventions using custom-made videos to toilet train children with autism.
C1 [Lee, Clara Yun Qi; Anderson, Angelika; Moore, Dennis W.] Monash Univ, Fac Educ, Melbourne, Vic 3800, Australia.
RP Lee, CYQ (reprint author), Monash Univ, Fac Educ, Melbourne, Vic 3800, Australia.
EM yqlee1@student.monash.edu
CR AZRIN NH, 1971, J APPL BEHAV ANAL, V4, P89, DOI 10.1901/jaba.1971.4-89
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NR 27
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD APR
PY 2014
VL 26
IS 2
BP 123
EP 134
DI 10.1007/s10882-013-9348-y
PG 12
WC Rehabilitation
SC Rehabilitation
GA AB7LL
UT WOS:000331971400001
ER
PT J
AU Beighley, JS
Matson, JL
Rieske, RD
Cervantes, PE
Goldin, R
Jang, J
AF Beighley, Jennifer S.
Matson, Johnny L.
Rieske, Robert D.
Cervantes, Paige E.
Goldin, Rachel
Jang, Jina
TI Differences in Stereotypic Behavior in Adults Diagnosed with Autism
Spectrum Disorders Using the DSM-IV-TR and the DSM-5
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Autism; Stereotypic behavior; Stereotypy; DSM-5
ID PERVASIVE DEVELOPMENTAL DISORDER; PROFOUND MENTAL-RETARDATION; SEVERELY
HANDICAPPED DASH; SELF-INJURIOUS-BEHAVIOR; PROPOSED DSM-5; ASPERGERS
SYNDROME; CHILDREN; CRITERIA; SYMPTOMS; INFANTS
AB The purpose of the current study was to investigate differences in the frequency of stereotypic behavior (e.g., engaging in repetitive activities; repetitive body movements such as rocking, spinning, handflapping; repetition of words or sounds; and perseveration on specific topics) using a psychometrically sound measure, the Diagnostic Assessment for the Severely Handicapped, second edition (DASH-II). The sample investigated included 261 adults with severe or profound intellectual disability (ID), 51 of whom met criteria for ASD according to the DSM-5; 84 of whom met criteria for the DSM-IV-TR, but no longer qualify for an ASD diagnosis with the new criteria; and a control group of 126 adults who did not qualify for an ASD diagnosis according to either version of the DSM. The DSM-5 captured a more impaired population in terms of stereotypies, though a significant difference remains between those who no longer meet criteria and a control group with ID who did not meet criteria for ASD under either version of the DSM.
Highlights
aEuro cent Approximately 38 % of adults with ID currently meeting criteria for autism under the DSM-IV-TR did not meet the DSM-5 criteria.
aEuro cent Those who continued to meet criteria for ASD had higher scores on the DASH-II stereotypy subscale.
aEuro cent People meeting DSM-IV but not DSM-5 criteria had significantly more stereotypic behavior than adults without ASD.
C1 [Beighley, Jennifer S.; Matson, Johnny L.; Rieske, Robert D.; Cervantes, Paige E.; Goldin, Rachel; Jang, Jina] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
RP Beighley, JS (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM jenbeighley@gmail.com; johnmatson@aol.com; rrieske@hotmail.com;
Pcerva2@tigers.lsu.edu; Rach.goldin@gmail.com; Jinajang87@gmail.com
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NR 47
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD APR
PY 2014
VL 26
IS 2
BP 193
EP 202
DI 10.1007/s10882-013-9356-y
PG 10
WC Rehabilitation
SC Rehabilitation
GA AB7LL
UT WOS:000331971400007
ER
PT J
AU Leaf, JB
Leaf, R
Taubman, M
McEachin, J
Delmolino, L
AF Leaf, Justin B.
Leaf, Ronald
Taubman, Mitchell
McEachin, John
Delmolino, Lara
TI Comparison of Flexible Prompt Fading to Error Correction for Children
with Autism Spectrum Disorder
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Autism; Discrete trial teaching; Error correction; Flexible prompt
fading; Prompting
ID CONSTANT-TIME DELAY; DISCRIMINATION; PREFERENCE; STUDENTS
AB This study compared flexible prompt fading to an error correction procedure involving feedback and remedial trials for teaching four children with Autism Spectrum Disorder. Using a parallel treatment design nested into a multiple probe design, researchers taught each participant how to expressively label six pictures of Muppet characters with the flexible prompt fading procedure and six pictures of Muppet characters with the error correction procedure. The researchers evaluated the effectiveness, maintenance, efficiency, and acquisition during teaching for each participant across the two teaching conditions. Results indicated that both teaching procedures were effective, resulted in high rates of maintenance, and that participants responded correctly during the majority of teaching trials. However, flexible prompt fading was more efficient in terms of total number of trials and sessions, as well as total amount of time for participants to learn all targeted skills.
C1 [Leaf, Justin B.; Leaf, Ronald; Taubman, Mitchell; McEachin, John] Autism Partnership Fdn, Seal Beach, CA USA.
[Delmolino, Lara] Rutgers State Univ, New Brunswick, NJ 08903 USA.
RP Leaf, JB (reprint author), 200 Marina Dr, Seal Beach, CA 90740 USA.
EM Jblautpar@aol.com
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NR 26
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD APR
PY 2014
VL 26
IS 2
BP 203
EP 224
DI 10.1007/s10882-013-9354-0
PG 22
WC Rehabilitation
SC Rehabilitation
GA AB7LL
UT WOS:000331971400008
ER
PT J
AU Schroeder, SR
Rojahn, J
An, XZ
Mayo-Ortega, L
Oyama-Ganiko, R
LeBlanc, J
AF Schroeder, Stephen R.
Rojahn, Johannes
An, Xiaozhu
Mayo-Ortega, Liliana
Oyama-Ganiko, Rosao
LeBlanc, Judith
TI The Parental Concerns Questionnaire: A Brief Screening Instrument for
Potentially Severe Behavior Problems in Infants and Toddlers At-Risk for
Developmental Delays
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Screening; Behavior Problems; Infants; Toddlers; Developmental Delays
ID SELF-INJURIOUS BEHAVIORS; PROBLEMS-INVENTORY; REPETITIVE-BEHAVIOR;
MENTAL-RETARDATION; AUTISM; DISABILITIES; CHECKLIST; VALIDITY; CHILDREN;
INTERVENTION
AB The Parental Concerns Questionnaire (PCQ) was designed as a parent-interview screening instrument for young children with developmental concerns at risk for potentially severe behavior problems (SBDs). Parents of 262 young children (4 to 48 months) answered to the 15 dichotomous PCQ items interviewed by trained staff. Cluster analysis for items revealed three item clusters, which we labeled Developmental/Social (8 items), Biomedical (3 items), and Behavior Problems (3 items). This paper discussed primarily the Behavior Problems cluster, with items referring to self-injurious, aggressive, and destructive behaviors. Parents' concerns about behavior problems were high, with item-endorsements of the Behavior Problems cluster ranging from 41.8 % to 68.8 %. The Behavior Problems cluster was significantly correlated with all three subscales of the Behavior Problems Inventory (BPI-01), with select subscales of the Aberrant Behavior Checklist (ABC), and with the Repetitive Behavior Scale-Revised (RBS-R) providing some evidence for concurrent validity. Sensitivity and specificity data were computed for the three PCQ items as well as for the cluster score in comparison with the BPI-01, ABC, and RBS-R showing strong sensitivity. The PCQ Behavior Problems cluster is a useful screening checklist with high sensitivity for potential SBDs in young children at-risk for developmental delays.
C1 [Schroeder, Stephen R.; LeBlanc, Judith] Univ Kansas, Lawrence, KS 66045 USA.
[Rojahn, Johannes; An, Xiaozhu] George Mason Univ, Fairfax, VA 22030 USA.
[Mayo-Ortega, Liliana; Oyama-Ganiko, Rosao] Ctr Ann Sullivan Peru, Lima, Peru.
RP Schroeder, SR (reprint author), Univ Kansas, Lawrence, KS 66045 USA.
EM srs@ku.edu
CR Aman M. G., 1994, ABERRANT BEHAV CHE S
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NR 24
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD APR
PY 2014
VL 26
IS 2
BP 237
EP 247
DI 10.1007/s10882-013-9359-8
PG 11
WC Rehabilitation
SC Rehabilitation
GA AB7LL
UT WOS:000331971400010
ER
PT J
AU Wu, DWL
Bischof, WF
Anderson, NC
Jakobsen, T
Kingstone, A
AF Wu, David W. -L.
Bischof, Walter F.
Anderson, Nicola C.
Jakobsen, Tanya
Kingstone, Alan
TI The influence of personality on social attention
SO PERSONALITY AND INDIVIDUAL DIFFERENCES
LA English
DT Article
DE Personality; Social cognition; Big Five; Social attention; Eye-tracking
ID SPECTRUM QUOTIENT AQ; 5-FACTOR MODEL; BIG 5; INDIVIDUAL-DIFFERENCES;
GAZE; AUTISM; SCENES; EYES; BEHAVIOR; FEATURES
AB The intersection between personality psychology and the study of social attention has been relatively untouched. We present an initial study that investigates the influence of the Big Five personality traits on eye movement behaviour towards social stimuli. By combining a free-viewing eye-tracking paradigm with canonical correlation and regression analyses, we discover that personality relates to fixations towards eye regions. Specifically, Extraversion and Agreeableness were related to greater gaze selection. while Openness to Experience was related to diminished gaze selection. The results demonstrate that who a person is affects how they move their eyes to social stimuli. The results also indicate that personality is a stronger factor in predicting social attention than past studies have suggested. Critical to the influence of personality on attention is the social situations viewers are placed in. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Wu, David W. -L.; Jakobsen, Tanya; Kingstone, Alan] Univ British Columbia, Dept Psychol, Vancouver, BC V6T 1Z4, Canada.
[Bischof, Walter F.] Univ Alberta, Dept Comp Sci, Edmonton, AB T6G 2M7, Canada.
[Anderson, Nicola C.] Vrije Univ Amsterdam, Dept Cognit Psychol, Amsterdam, Netherlands.
RP Wu, DWL (reprint author), Univ British Columbia, Dept Psychol, 2136 W Mall, Vancouver, BC V6T 1Z4, Canada.
EM david.wl.wu@gmail.com; alan.kingstone@ubc.ca
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NR 36
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0191-8869
J9 PERS INDIV DIFFER
JI Pers. Individ. Differ.
PD APR
PY 2014
VL 60
BP 25
EP 29
DI 10.1016/j.paid.2013.11.017
PG 5
WC Psychology, Social
SC Psychology
GA AB0TA
UT WOS:000331503800007
ER
PT J
AU Andersen, SM
Carlson, CA
Carlson, MA
Gronlund, SD
AF Andersen, Shannon M.
Carlson, Curt A.
Carlson, Maria A.
Gronlund, Scott D.
TI Individual differences predict eyewitness identification performance
SO PERSONALITY AND INDIVIDUAL DIFFERENCES
LA English
DT Article
DE Eyewitness identification; Simultaneous and sequential lineups; Working
memory; Facial recognition ability; Autism Spectrum; Need for Cognition
ID SEQUENTIAL LINEUP ADVANTAGE; FACE RECOGNITION; WORKING-MEMORY;
DISTINCTIVENESS; RECOLLECTION; COGNITION; AUTISM; NEED
AB A great deal of research has focused on eyewitness identification performance as a function of sequential versus simultaneous lineup presentation methods. We examined if individual differences in cognitive ability influence eyewitness identification, and whether these factors lead to performance differences as a function of lineup presentation method. We found that individual differences in facial recognition ability, working memory capacity, and levels of autistic traits, did result in differential performance. Differences in lineup performance are due to the interaction of individual differences and presentation method, signaling that it is possible to enhance the accuracy of eyewitness identifications by tailoring a lineup presentation method to the capabilities of an individual eyewitness. (C) 2013 Elsevier Ltd, All rights reserved.
C1 [Andersen, Shannon M.; Gronlund, Scott D.] Univ Oklahoma, Norman, OK 73019 USA.
[Carlson, Curt A.; Carlson, Maria A.] Texas A&M Univ Commerce, Commerce, TX 75429 USA.
RP Andersen, SM (reprint author), Univ Oklahoma, Dept Psychol, 455 W Lindsey St,Dale Hall Tower,Room 705, Norman, OK 73019 USA.
EM Shannon.M.Andersen-1@ou.edu; curt.carlson@tamuc.edu;
Maria.carlson@tamuc.edu; sgronlund@ou.edu
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Yonelinas AP, 2002, J MEM LANG, V46, P441, DOI 10.1006/jmla.2002.2864
NR 28
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0191-8869
J9 PERS INDIV DIFFER
JI Pers. Individ. Differ.
PD APR
PY 2014
VL 60
BP 36
EP 40
DI 10.1016/j.paid.2013.12.011
PG 5
WC Psychology, Social
SC Psychology
GA AB0TA
UT WOS:000331503800009
ER
PT J
AU Durdiakova, J
Warrier, V
Baron-Cohen, S
Chakrabarti, B
AF Durdiakova, Jaroslava
Warrier, Varun
Baron-Cohen, Simon
Chakrabarti, Bhismadev
TI Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated
with Asperger syndrome
SO MOLECULAR AUTISM
LA English
DT Article
DE SLC25A12; Asperger syndrome; Association study; Single nucleotide
polymorphisms
ID AUTISM SPECTRUM DISORDERS; ASPARTATE-GLUTAMATE; ABNORMALITIES;
MITOCHONDRIA; DEFICIENCY; VARIANTS; BEHAVIOR; LINKAGE; TRAITS; CITRIN
AB Background: Autism Spectrum Conditions (ASC) are a group of developmental conditions which affect communication, social interactions and behaviour. Mitochondrial oxidative dysfunction has been suggested as a mechanism of autism based on the results of multiple genetic association and expression studies. SLC25A12 is a gene encoding a calcium-binding carrier protein that localizes to the mitochondria and is involved in the exchange of aspartate for glutamate in the inner membrane of the mitochondria regulating the cytosolic redox state. rs2056202 SNP in this gene has previously been associated with ASC. SNPs rs6716901 and rs3765166 analysed in this study have not been previously explored in association with AS.
Methods: We genotyped three SNPs (rs2056202, rs3765166, and rs6716901) in SLC25A12 in n = 117 individuals with Asperger syndrome (AS) and n = 426 controls, all of Caucasian ancestry.
Results: rs6716901 showed significant association with AS (P = 0.008) after correcting for multiple testing. We did not replicate the previously identified association between rs2056202 and AS in our sample. Similarly, rs3765166 (P = 0.11) showed no significant association with AS.
Conclusion: The present study, in combination with previous studies, provides evidence for SLC25A12 as involved in the etiology of AS. Further cellular and molecular studies are required to elucidate the role of this gene in ASC.
C1 [Durdiakova, Jaroslava; Warrier, Varun; Baron-Cohen, Simon; Chakrabarti, Bhismadev] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 8AH, England.
[Baron-Cohen, Simon] Cambridgeshire & Peterborough NHS Fdn Trust CPFT, CLASS Clin, Cambridge CB21 5EF, England.
[Chakrabarti, Bhismadev] Univ Reading, Sch Psychol & Clin Language Sci, Ctr Integrat Neurosci & Neurodynam, Reading RG6 6AL, Berks, England.
RP Baron-Cohen, S (reprint author), Univ Cambridge, Dept Psychiat, Autism Res Ctr, 18b Trumpington Rd, Cambridge CB2 8AH, England.
EM sb205@cam.ac.uk; b.chakrabarti@reading.ac.uk
FU Target Autism Genome (TAG); Autism Research Trust (ART); MRC UK; Max
Planck Institute for Psycholinguistics, Nijmegen, Netherlands
FX This study was funded by grants to SBC by Target Autism Genome (TAG),
the Autism Research Trust (ART), the MRC UK, and the Max Planck
Institute for Psycholinguistics, Nijmegen, Netherlands. We are grateful
to Lindsey Kent, Jonathan Breidbord, Allen Chan, Laura Murphy, Agnese Di
Napoli, Simon Fisher, Sally Wheelwright, Carrie Allison, Grant
Hill-Cawthorne, Vicky Harris for help with various stages of the
project.
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NR 30
TC 3
Z9 3
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD MAR 31
PY 2014
VL 5
AR 25
DI 10.1186/2040-2392-5-25
PG 5
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4YA
UT WOS:000334719300001
PM 24679184
ER
PT J
AU Terrien, S
Stefaniak, N
Blondel, M
Mouras, H
Morvan, Y
Besche-Richard, C
AF Terrien, Sarah
Stefaniak, Nicolas
Blondel, Marine
Mouras, Harold
Morvan, Yannick
Besche-Richard, Chrystel
TI Theory of mind and hypomanic traits in general population
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE Hypomanic personality; Theory of mind; Gender effect; Vulnerability
ID NATIONAL COMORBIDITY SURVEY; EUTHYMIC BIPOLAR DISORDER; HIGH-FUNCTIONING
AUTISM; PSYCHOTIC SYMPTOMS; GENDER-DIFFERENCES; SOCIAL COMPETENCE;
IMPAIRED THEORY; NORMAL ADULTS; DEPRESSION; DEFICITS
AB Theory of Mind (TOM) is the ability to assign a set of mental states to yourself and others. In bipolar disorders, alteration of social relationship can be explained by the impairment of the functioning of ToM. Deficit in ToM could be a trait marker of bipolar disorder and people in the general population with high hypomanic personality scores would be more likely to develop bipolar disorders. This study examined 298 participants. Measures of hypomanic personality were evaluated using the Hypomanic Personality Scale. ToM was explored using the Yoni task. Participants also completed the BDI-II. Forward multiple regressions were performed to examine the effect of components of the HPS on the total score in the ToM task. In the women's group, no subscales of the HPS were included in the model. Conversely, the analyses performed on men revealed that the mood vitality and excitement subscale was a significant predictor of TOM abilities. Our study is the first to show the impact of certain dimensions of hypomanic personality on performance in ToM in a male sample. This result supports the idea that deficits in ToM can be a trait marker of bipolar disorder in a healthy male population. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Terrien, Sarah; Stefaniak, Nicolas; Blondel, Marine; Besche-Richard, Chrystel] Univ Reims, Lab Cognit Sante Socialisat C2S, EA6291, F-51096 Reims, France.
[Terrien, Sarah; Stefaniak, Nicolas; Blondel, Marine; Besche-Richard, Chrystel] Univ Reims, SFR CAP Sante, F-51096 Reims, France.
[Mouras, Harold] Univ Picardie Jules Verne, Lab Cognit Psychisme Org, EA 7273, Amiens, France.
[Morvan, Yannick] Univ Paris 05, Ctr Psychiat & Neurosci, INSERM, LPMP,U894, Paris, France.
[Morvan, Yannick] Univ Paris Ouest Nanterre Def, Lab CLIPSYD, Nanterre, France.
[Besche-Richard, Chrystel] Inst Univ France, Paris, France.
RP Besche-Richard, C (reprint author), Univ Reims, Lab Cognit Sante Socialisat C2S, EA6291, 57 Rue Pierre Taittinger, F-51096 Reims, France.
EM chrystel.bekhe@univ-reims.fr
FU Institut Universitaire de France (IUF), Ministere de l'Enseignement
Superieur et de la Recherche, Paris, France
FX Funding support for this study was awarded to Chrystel Besche-Richard by
the Institut Universitaire de France (IUF), Ministere de l'Enseignement
Superieur et de la Recherche, Paris, France. The IUF had no influence on
data collection, data entry, data analyses, the interpretation of the
data, the writing or submission of the manuscript, or on the choice of
journal for possible publication. We would like to thank Maude
Cabouillet and Candice Zimmermann for their assistance with data
collection, and Simone Shamay-Tsoory for her authorization to adapt the
Yoni task in French.
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NR 56
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-1781
J9 PSYCHIAT RES
JI Psychiatry Res.
PD MAR 30
PY 2014
VL 215
IS 3
BP 694
EP 699
DI 10.1016/j.psychres.2013.12.042
PG 6
WC Psychiatry
SC Psychiatry
GA AE2AU
UT WOS:000333776500031
PM 24445165
ER
PT J
AU Schenkel, LS
Chamberlain, TF
Towne, TL
AF Schenkel, Lindsay S.
Chamberlain, Todd F.
Towne, Terra L.
TI Impaired Theory of Mind and psychosocial functioning among pediatric
patients with Type I versus Type II bipolar disorder
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE Pediatric bipolar disorder; Theory of mind; Psychosocial functioning
ID EMOTION LABELING DEFICITS; RATING-SCALE; EUTHYMIC PATIENTS; CHILDREN;
SCHIZOPHRENIA; AUTISM; EYES; PSYCHOPATHY; ADOLESCENTS; RELIABILITY
AB Deficits in Theory of Mind (ToM) have been documented among pediatric patients with Bipolar Disorder (BD). However, fewer studies have directly examined differences between type I and type II patients and whether or not ToM deficits are related to psychosocial difficulties. Therefore, the aim of this study was to compare type I versus type II pediatric bipolar patients and matched Healthy Controls (HC) on TOM and interpersonal functioning tasks. All participants completed the Revised Mind in the Eyes Task (MET), the Cognitive and Emotional Perspective Taking Task (CEPTT), and the Index of Peer Relations (IPR). Type I BD patients reported greater peer difficulties on the IPR compared to HC, and also performed more poorly on the MET and the cognitive condition of the CEPTT, but did not differ significantly on the emotional condition. There were no significant group differences between type II BD patients and HC. More impaired ToM performance was associated with poorer interpersonal functioning. Type IBD patients show deficits in the ability to understand another's mental state, irrespective of emotional valence. Deficits in understanding others' mental states could be an important treatment target for type I pediatric patients with BD. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
C1 [Schenkel, Lindsay S.; Chamberlain, Todd F.; Towne, Terra L.] Rochester Inst Technol, Dept Psychol, Rochester, NY 14623 USA.
RP Schenkel, LS (reprint author), Rochester Inst Technol, Dept Psychol, 18 Lomb Mem Dr, Rochester, NY 14623 USA.
EM lssgsh@rit.edu
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NR 51
TC 1
Z9 1
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-1781
J9 PSYCHIAT RES
JI Psychiatry Res.
PD MAR 30
PY 2014
VL 215
IS 3
BP 740
EP 746
DI 10.1016/j.psychres.2013.10.025
PG 7
WC Psychiatry
SC Psychiatry
GA AE2AU
UT WOS:000333776500038
PM 24461271
ER
PT J
AU Miellet, S
Caldara, R
Gillberg, C
Raju, M
Minnis, H
AF Miellet, Sebastien
Caldara, Roberto
Gillberg, Christopher
Raju, Monika
Minnis, Helen
TI Disinhibited reactive attachment disorder symptoms impair social
judgements from faces
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE Reactive attachment disorder; Indiscriminate friendliness; Eye tracking;
Appraisal of faces
ID AUTISM SPECTRUM DISORDERS; PSYCHOPHYSICS TOOLBOX; INFORMATION USE;
PATTERNS; TRUST; FIXATION; INDIVIDUALS; RECOGNITION; COMPETENCE;
CHILDHOOD
AB Typically developing adults and children can rapidly reach consensus regarding the trustworthiness of unfamiliar faces. Maltreated children can have problems with trusting others, yet those with the disinhibited form of reactive attachment disorder (dRAD) can be indiscriminately friendly. Whether children with dRAD symptoms appraise and conform to typical judgements about trustworthiness of faces is still unknown. We recorded eye movements of 10 maltreated dRAD children and 10 age and gender matched typically developing control children while they made social judgements from faces. Children were presented with a series of pairs of faces previously judged by adults to have high or low attractiveness or trustworthiness ratings. Typically developing children reached a consensus regarding which faces were the most trustworthy and attractive. There was less agreement among the children with dRAD symptoms. judgments from the typically developing children showed a strong correlation between the attractiveness and trustworthiness tasks. This was not the case for the dRAD group, who showed less agreement and no significant correlation between trustworthiness and attractiveness judgments. Finally, both groups of children sampled the eye region to perform social judgments. Our data offer a unique insight in children with dRAD symptoms, providing novel and important knowledge for their rehabilitation. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Miellet, Sebastien; Caldara, Roberto] Univ Fribourg, Dept Psychol, CH-1700 Fribourg, Switzerland.
[Miellet, Sebastien; Caldara, Roberto] Univ Fribourg, Fribourg Ctr Cognit, CH-1700 Fribourg, Switzerland.
[Raju, Monika] NHS Greater Glasgow & Clyde, Yorkhill Hosp, Glasgow G3 8SJ, Lanark, Scotland.
[Gillberg, Christopher; Minnis, Helen] Univ Glasgow, Inst Hlth & Wellbeing, Yorkhill Hosp, Glasgow G3 8SJ, Lanark, Scotland.
RP Minnis, H (reprint author), Univ Glasgow, Inst Hlth & Wellbeing, Yorkhill Hosp, Caledonia House, Glasgow G3 8SJ, Lanark, Scotland.
EM helen.minnis@glasgow.ac.uk
FU National Center of Competence in Research (NCCR) Affective sciences;
Swiss National Science Foundation [51NF40-104897]; Weir Bequest for
Child and Adolescent Psychiatric Research
FX RC was supported by the National Center of Competence in Research (NCCR)
Affective sciences financed by the Swiss National Science Foundation (no
51NF40-104897). We are grateful to all participating families, to Mrs.
Fiona Lettice from Adoption UK for facilitating recruitment of our
adoptive sample and to Dr. Jasmeet Bindra, Dr. Lisa Collin, Kay Foreman
and Junpeng Lao for their help with data collection. The funding for the
study came from the Weir Bequest for Child and Adolescent Psychiatric
Research.
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NR 45
TC 1
Z9 1
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-1781
J9 PSYCHIAT RES
JI Psychiatry Res.
PD MAR 30
PY 2014
VL 215
IS 3
BP 747
EP 752
DI 10.1016/j.psychres.2014.01.004
PG 6
WC Psychiatry
SC Psychiatry
GA AE2AU
UT WOS:000333776500039
PM 24495573
ER
PT J
AU Wingate, M
Kirby, RS
Pettygrove, S
Cunniff, C
Schulz, E
Ghosh, T
Robinson, C
Lee, LC
Landa, R
Constantino, J
Fitzgerald, R
Zahorodny, W
Daniels, J
Nicholas, J
Charles, J
McMahon, W
Bilder, D
Durkin, M
Baio, J
Christensen, D
Van, K
Braun, N
Clayton, H
Goodman, A
Doernberg, N
Yeargin-Allsopp, M
AF Wingate, Martha
Kirby, Russell S.
Pettygrove, Sydney
Cunniff, Chris
Schulz, Eldon
Ghosh, Tista
Robinson, Cordelia
Lee, Li-Ching
Landa, Rebecca
Constantino, John
Fitzgerald, Robert
Zahorodny, Walter
Daniels, Julie
Nicholas, Joyce
Charles, Jane
McMahon, William
Bilder, Deborah
Durkin, Maureen
Baio, Jon
Christensen, Deborah
Van, Kim
Braun, Naarden
Clayton, Heather
Goodman, Alyson
Doernberg, Nancy
Yeargin-Allsopp, Marshalyn
CA Autism Dev Disabilities Monitoring
TI Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years -
Autism and Developmental Disabilities Monitoring Network, 11 Sites,
United States, 2010
SO MMWR SURVEILLANCE SUMMARIES
LA English
DT Article
ID IDENTIFICATION; PREDICTORS; HEALTH; RISK
AB Problem/Condition: Autism spectrum disorder (ASD).
Period Covered: 2010.
Description of System: The Autism and Developmental Disabilities Monitoring (ADDM) Network is an active surveillance system in the United States that provides estimates of the prevalence of ASD and other characteristics among children aged 8 years whose parents or guardians live in 11 ADDM sites in the United States. ADDM surveillance is conducted in two phases. The first phase consists of screening and abstracting comprehensive evaluations performed by professional providers in the community. Multiple data sources for these evaluations include general pediatric health clinics and specialized programs for children with developmental disabilities. In addition, most ADDM Network sites also review and abstract records of children receiving special education services in public schools. The second phase involves review of all abstracted evaluations by trained clinicians to determine ASD surveillance case status. A child meets the surveillance case definition for ASD if a comprehensive evaluation of that child completed by a qualified professional describes behaviors consistent with the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) diagnostic criteria for any of the following conditions: autistic disorder, pervasive developmental disorder-not otherwise specified (including atypical autism), or Asperger disorder. This report provides updated prevalence estimates for ASD from the 2010 surveillance year. In addition to prevalence estimates, characteristics of the population of children with ASD are described.
Results: For 2010, the overall prevalence of ASD among the ADDM sites was 14.7 per 1,000 (one in 68) children aged 8 years. Overall ASD prevalence estimates varied among sites from 5.7 to 21.9 per 1,000 children aged 8 years. ASD prevalence estimates also varied by sex and racial/ethnic group. Approximately one in 42 boys and one in 189 girls living in the ADDM Network communities were identified as having ASD. Non-Hispanic white children were approximately 30% more likely to be identified with ASD than non-Hispanic black children and were almost 50% more likely to be identified with ASD than Hispanic children. Among the seven sites with sufficient data on intellectual ability, 31% of children with ASD were classified as having IQ scores in the range of intellectual disability (IQ <= 70), 23% in the borderline range (IQ = 71-85), and 46% in the average or above average range of intellectual ability (IQ > 85). The proportion of children classified in the range of intellectual disability differed by race/ethnicity. Approximately 48% of non-Hispanic black children with ASD were classified in the range of intellectual disability compared with 38% of Hispanic children and 25% of non-Hispanic white children. The median age of earliest known ASD diagnosis was 53 months and did not differ significantly by sex or race/ethnicity.
Interpretation: These findings from CDC's ADDM Network, which are based on 2010 data reported from 11 sites, provide updated population-based estimates of the prevalence of ASD in multiple communities in the United States. Because the ADDM Network sites do not provide a representative sample of the entire United States, the combined prevalence estimates presented in this report cannot be generalized to all children aged 8 years in the United States population. Consistent with previous reports from the ADDM Network, findings from the 2010 surveillance year were marked by significant variations in ASD prevalence by geographic area, sex, race/ethnicity, and level of intellectual ability. The extent to which this variation might be attributable to diagnostic practices, underrecognition of ASD symptoms in some racial/ethnic groups, socioeconomic disparities in access to services, and regional differences in clinical or school-based practices that might influence the findings in this report is unclear.
Public Health Action: ADDM Network investigators will continue to monitor the prevalence of ASD in select communities, with a focus on exploring changes within these communities that might affect both the observed prevalence of ASD and population-based characteristics of children identified with ASD. Although ASD is sometimes diagnosed by 2 years of age, the median age of the first ASD diagnosis remains older than age 4 years in the ADDM Network communities. Recommendations from the ADDM Network include enhancing strategies to address the need for 1) standardized, widely adopted measures to document ASD severity and functional limitations associated with ASD diagnosis; 2) improved recognition and documentation of symptoms of ASD, particularly among both boys and girls, children without intellectual disability, and children in all racial/ethnic groups; and 3) decreasing the age when children receive their first evaluation for and a diagnosis of ASD and are enrolled in community-based support systems.
C1 [Wingate, Martha] Univ Alabama, Tuscaloosa, AL 35487 USA.
[Kirby, Russell S.] Univ S Florida, Tampa, FL USA.
[Pettygrove, Sydney; Cunniff, Chris] Univ Arizona, Tucson, AZ USA.
[Schulz, Eldon] Univ Arkansas Med Sci, Little Rock, AR 72205 USA.
[Ghosh, Tista] Colorado Dept Publ Hlth & Environm, Denver, CO USA.
[Robinson, Cordelia] Univ Colorado Denver, Denver, CO USA.
[Lee, Li-Ching] Johns Hopkins Univ, Baltimore, MD USA.
[Landa, Rebecca] Kennedy Krieger Inst, Baltimore, MD USA.
[Constantino, John; Fitzgerald, Robert] Washington Univ, St Louis, MO 63130 USA.
[Zahorodny, Walter] Rutgers State Univ, New Jersey Med Sch, Newark, NJ USA.
[Daniels, Julie] Univ N Carolina, Chapel Hill, NC USA.
[Nicholas, Joyce; Charles, Jane] Med Univ S Carolina, Charleston, SC USA.
[McMahon, William; Bilder, Deborah] Univ Utah, Salt Lake City, UT USA.
[Durkin, Maureen] Univ Wisconsin, Madison, WI 53706 USA.
[Baio, Jon; Christensen, Deborah; Van, Kim; Braun, Naarden; Clayton, Heather; Goodman, Alyson; Doernberg, Nancy; Yeargin-Allsopp, Marshalyn] CDC, Natl Ctr Birth Defects & Dev Disabil, Div Birth Defects & Dev Disabil, Atlanta, GA 30333 USA.
RP Baio, J (reprint author), CDC, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA 30333 USA.
EM jbaio@cdc.gov
RI Durkin, Maureen/B-7834-2015
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American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 26
TC 0
Z9 0
PU CENTER DISEASE CONTROL & PREVENTION
PI ATLANTA
PA MAILSTOP E-90, ATLANTA, GA 30333 USA
SN 1545-8636
J9 MMWR SURVEILL SUMM
JI MMWR Surv. Summ.
PD MAR 28
PY 2014
VL 63
IS 2
PG 22
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AE9TI
UT WOS:000334352600001
ER
PT J
AU Jung, H
Gkogkas, CG
Sonenberg, N
Holt, CE
AF Jung, Hosung
Gkogkas, Christos G.
Sonenberg, Nahum
Holt, Christine E.
TI Remote Control of Gene Function by Local Translation
SO CELL
LA English
DT Review
ID MESSENGER-RNA LOCALIZATION; AMYOTROPHIC-LATERAL-SCLEROSIS;
UBIQUITIN-PROTEASOME SYSTEM; AUTISM SPECTRUM DISORDERS; TERM SYNAPTIC
PLASTICITY; AXONAL PROTEIN-SYNTHESIS; RETINAL GROWTH CONES; CELL-FREE
FORMATION; FRAGILE-X-SYNDROME; BINDING-PROTEIN
AB The subcellular position of a protein is a key determinant of its function. Mounting evidence indicates that RNA localization, where specific mRNAs are transported subcellularly and subsequently translated in response to localized signals, is an evolutionarily conserved mechanism to control protein localization. On-site synthesis confers novel signaling properties to a protein and helps to maintain local proteome homeostasis. Local translation plays particularly important roles in distal neuronal compartments, and dysregulated RNA localization and translation cause defects in neuronal wiring and survival. Here, we discuss key findings in this area and possible implications of this adaptable and swift mechanism for spatial control of gene function.
C1 [Jung, Hosung] Yonsei Univ, Coll Med, Brain Res Inst, Dept Anat, Seoul 120752, South Korea.
[Jung, Hosung] Yonsei Univ, Coll Med, Brain Korea PLUS Project Med Sci 21, Seoul 120752, South Korea.
[Gkogkas, Christos G.] Univ Edinburgh, Ctr Integrat Physiol, Patrick Wild Ctr, Edinburgh EH8 9XD, Midlothian, Scotland.
[Sonenberg, Nahum] McGill Univ, Dept Biochem, Montreal, PQ H3A 1A3, Canada.
[Sonenberg, Nahum] McGill Univ, Goodman Canc Res Ctr, Montreal, PQ H3A 1A3, Canada.
[Holt, Christine E.] Univ Cambridge, Dept Physiol Dev & Neurosci, Cambridge CB2 3DY, England.
RP Sonenberg, N (reprint author), McGill Univ, Dept Biochem, Montreal, PQ H3A 1A3, Canada.
EM nahum.sonenberg@mcgill.ca; ceh33@cam.ac.uk
FU Basic Science Research Program [2013R1A1A1009625]; Bio and Medical
Technology Development Program through NRF [2010-0020232]; Korean
government (MSIP); Autism Speaks [7109]; Canadian Institutes of Health
Research [MOP114994]; Wellcome Trust Programme [085314/Z/08/Z]; ERC
[322817]
FX We thank A. Bellon for comments on the manuscript. This work was
supported by Basic Science Research Program (2013R1A1A1009625) and Bio
and Medical Technology Development Program (2010-0020232) funded through
NRF by the Korean government (MSIP) (H.J.), Autism Speaks (C.G.G.;
7109), Canadian Institutes of Health Research (N.S.;MOP114994), Wellcome
Trust Programme Grant (C.E.H.; 085314/Z/08/Z) and ERC Advanced Grant
(C.E.H.; 322817).
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NR 168
TC 22
Z9 22
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0092-8674
EI 1097-4172
J9 CELL
JI Cell
PD MAR 27
PY 2014
VL 157
IS 1
BP 26
EP 40
DI 10.1016/j.cell.2014.03.005
PG 15
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AE4QW
UT WOS:000333968900005
PM 24679524
ER
PT J
AU Krystal, JH
State, MW
AF Krystal, John H.
State, Matthew W.
TI Psychiatric Disorders: Diagnosis to Therapy
SO CELL
LA English
DT Review
ID DE-NOVO MUTATIONS; TRANSCRANIAL MAGNETIC STIMULATION; AUTISM SPECTRUM
DISORDERS; OBSESSIVE-COMPULSIVE DISORDER; TERM-FOLLOW-UP;
BRAIN-STIMULATION; RECEPTOR ANTAGONIST; RESONANCE-SPECTROSCOPY; COCAINE
DEPENDENCE; EXPOSURE THERAPY
AB Recent findings in a range of scientific disciplines are challenging the conventional wisdom regarding the etiology, classification, and treatment of psychiatric disorders. This Review focuses on the current state of the psychiatric diagnostic nosology and recent progress in three areas: genomics, neuroimaging, and therapeutics development. The accelerating pace of novel and unexpected findings is transforming the understanding of mental illness and represents a hopeful sign that the approaches and models that have sustained the field for the past 40 years are yielding to a flood of new data and presaging the emergence of a new and more powerful scientific paradigm.
C1 [Krystal, John H.] Yale Univ, Sch Med, Dept Psychiat, New Haven, CT 06510 USA.
[Krystal, John H.] Yale Univ, Sch Med, Dept Neurobiol, New Haven, CT 06510 USA.
[Krystal, John H.] VA Connecticut Healthcare Syst, VA Natl Ctr PTSD, West Haven, CT 06516 USA.
[State, Matthew W.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA 94143 USA.
[State, Matthew W.] Univ Calif San Francisco, Langley Porter Psychiat Inst, San Francisco, CA 94143 USA.
RP Krystal, JH (reprint author), Yale Univ, Sch Med, Dept Psychiat, New Haven, CT 06510 USA.
EM john.krystal@yale.edu; matthew.state@ucsf.edu
FU Department of Veterans Affairs; VA National Center for PTSD; Coalition
to Alleviate PTSD; National Institute on Alcohol Abuse and Alcoholism
[3P50AA012870]; National Institute of Mental Health (FAST-PS) [R01
MH092289-01A1, R01 MH081754, U01 MH100239]; National Center for
Advancing Translational Science [UH2TR000960-01]; Clinical and
Translational Science Award; UL1 RR024139; State of Connecticut
Department of Mental Health and Addiction Services; Abraham Ribicoff
Research Facilities of the Connecticut Mental Health Center; Simons
Foundation Autism Research Initiative and the Overlook International
Fund
FX We gratefully acknowledge the Department of Veterans Affairs, the VA
National Center for PTSD and its joint funding (with the Department of
Defense) of the Coalition to Alleviate PTSD (to J.H.K.), the National
Institute on Alcohol Abuse and Alcoholism (3P50AA012870 to J.H.K.), the
National Institute of Mental Health (FAST-PS to J.H.K. and R01
MH092289-01A1, R01 MH081754, and U01 MH100239 to M. W. S.), the National
Center for Advancing Translational Science (UH2TR000960-01; Clinical and
Translational Science Award Grant No. UL1 RR024139 to J.H.K.), the State
of Connecticut Department of Mental Health and Addiction Services for
its support of the Abraham Ribicoff Research Facilities of the
Connecticut Mental Health Center (to J.H.K.), and the Simons Foundation
Autism Research Initiative and the Overlook International Fund (to
M.W.S.). J.H.K. has served as a scientific consultant to the following
companies with compensation in the past year of more than $5,000:
Novartis Pharma AG, Janssen Research and Development LLC, AbbVie, Inc.,
Eli Lilly Corporation, and Naurex, Inc. He holds stock in Biohaven
Medical Sciences. He also has the following patents and inventions: (1)
dopamine and noradrenergic reuptake inhibitors in treatment of
schizophrenia, patent no. 5447948, 5 September 1995; (2) a pending
patent for glutamatergic treatments for neuropsychiatric disorders
(PCTWO06108055A1); and (3) a pending patent for some applications of
ketamine to the treatment of depression.
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NR 101
TC 6
Z9 7
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0092-8674
EI 1097-4172
J9 CELL
JI Cell
PD MAR 27
PY 2014
VL 157
IS 1
BP 201
EP 214
DI 10.1016/j.cell.2014.02.042
PG 14
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AE4QW
UT WOS:000333968900017
PM 24679536
ER
PT J
AU Stoner, R
Chow, ML
Boyle, MP
Sunkin, SM
Mouton, PR
Roy, S
Wynshaw-Boris, A
Colamarino, SA
Lein, ES
Courchesne, E
AF Stoner, Rich
Chow, Maggie L.
Boyle, Maureen P.
Sunkin, Susan M.
Mouton, Peter R.
Roy, Subhojit
Wynshaw-Boris, Anthony
Colamarino, Sophia A.
Lein, Ed S.
Courchesne, Eric
TI Patches of Disorganization in the Neocortex of Children with Autism
SO NEW ENGLAND JOURNAL OF MEDICINE
LA English
DT Article
ID SPECTRUM DISORDER; BRAIN OVERGROWTH; CORTEX; CONNECTIVITY; PATTERNS;
NUMBER; SIZE; LIFE
AB BackgroundAutism involves early brain overgrowth and dysfunction, which is most strongly evident in the prefrontal cortex. As assessed on pathological analysis, an excess of neurons in the prefrontal cortex among children with autism signals a disturbance in prenatal development and may be concomitant with abnormal cell type and laminar development.
MethodsTo systematically examine neocortical architecture during the early years after the onset of autism, we used RNA in situ hybridization with a panel of layer- and cell-type-specific molecular markers to phenotype cortical microstructure. We assayed markers for neurons and glia, along with genes that have been implicated in the risk of autism, in prefrontal, temporal, and occipital neocortical tissue from postmortem samples obtained from children with autism and unaffected children between the ages of 2 and 15 years.
ResultsWe observed focal patches of abnormal laminar cytoarchitecture and cortical disorganization of neurons, but not glia, in prefrontal and temporal cortical tissue from 10 of 11 children with autism and from 1 of 11 unaffected children. We observed heterogeneity between cases with respect to cell types that were most abnormal in the patches and the layers that were most affected by the pathological features. No cortical layer was uniformly spared, with the clearest signs of abnormal expression in layers 4 and 5. Three-dimensional reconstruction of layer markers confirmed the focal geometry and size of patches.
ConclusionsIn this small, explorative study, we found focal disruption of cortical laminar architecture in the cortexes of a majority of young children with autism. Our data support a probable dysregulation of layer formation and layer-specific neuronal differentiation at prenatal developmental stages. (Funded by the Simons Foundation and others.)
Molecular analysis of postmortem samples of brain tissue obtained from 11 children with autism showed that the prefrontal and temporal cortexes in 10 of these children had patches of neuronal disorganization. Autism is, in part, a heritable developmental disorder involving macroscopic early brain overgrowth in the majority of cases(1)-(7) and dysfunction(8) that affects several cortical and subcortical regions mediating autistic symptoms, including prefrontal and temporal cortexes.(4),(9)-(11) The underlying cortical defects remain uncertain. Despite the early diagnosable onset, in more than 40 studies, the average age of patients with autism in postmortem analyses was 22 years.(4) Three previous case studies that evaluated Nissl-stained sections of brains obtained from patients with autism ranging in age from 4 to 60 years described individual instances of heterotopias, slight focal laminar disorganization,(12), ...
C1 [Stoner, Rich; Chow, Maggie L.; Boyle, Maureen P.; Courchesne, Eric] Univ Calif San Diego, Autism Ctr Excellence, La Jolla, CA 92037 USA.
[Stoner, Rich; Chow, Maggie L.; Boyle, Maureen P.; Roy, Subhojit; Courchesne, Eric] Univ Calif San Diego, Sch Med, Dept Neurosci, La Jolla, CA 92037 USA.
[Roy, Subhojit] Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92037 USA.
[Boyle, Maureen P.; Sunkin, Susan M.; Lein, Ed S.] Allen Inst Brain Sci, Seattle, WA USA.
[Mouton, Peter R.] Univ S Florida, Sch Med, Dept Pathol & Cell Biol, Tampa, FL 33620 USA.
[Mouton, Peter R.] Alzheimers Inst, Tampa, FL USA.
[Mouton, Peter R.] Res Ctr, Tampa, FL USA.
[Wynshaw-Boris, Anthony] Case Western Reserve Univ, Sch Med, Dept Genet & Genome Sci, Cleveland, OH 44106 USA.
[Colamarino, Sophia A.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA.
RP Courchesne, E (reprint author), Univ Calif San Diego, Sch Med, Autism Ctr Excellence, Dept Neurosci, 8110 La Jolla Shores Dr, La Jolla, CA 92037 USA.
EM ecourchesne@ucsd.edu
FU Simons Foundation; Peter Emch Family Foundation; Cure Autism Now/Autism
Speaks; Thursday Club Juniors; Allen Institute for Brain Science;
University of California, San Diego, Autism Center of Excellence
[P50-MH081755]
FX Supported by grants from the Simons Foundation (to Drs. Courchesne and
Wynshaw-Boris), the Peter Emch Family Foundation (to Dr. Cour-chesne),
Cure Autism Now/Autism Speaks (to Dr. Courchesne), the Thursday Club
Juniors (to Dr. Courchesne), the Allen Institute for Brain Science (to
Drs. Lein, Sunkin, and Boyle), and the University of California, San
Diego, Autism Center of Excellence (P50-MH081755, to Dr. Courchesne).
Tissue for this study was provided by the National Institute of Child
Health and Human Development Brain and Tissue Bank for Developmental
Disorders (Baltimore) (N01-HD-4-3368 and N01-HD-4-3383), the Brain and
Tissue Bank for Developmental Disorders (Miami), Autism Tissue Program
(Princeton, NJ), and Harvard Brain Tissue Resource Center (Belmont, MA).
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NR 28
TC 39
Z9 41
PU MASSACHUSETTS MEDICAL SOC
PI WALTHAM
PA WALTHAM WOODS CENTER, 860 WINTER ST,, WALTHAM, MA 02451-1413 USA
SN 0028-4793
EI 1533-4406
J9 NEW ENGL J MED
JI N. Engl. J. Med.
PD MAR 27
PY 2014
VL 370
IS 13
BP 1209
EP 1219
DI 10.1056/NEJMoa1307491
PG 11
WC Medicine, General & Internal
SC General & Internal Medicine
GA AD7EW
UT WOS:000333426000008
PM 24670167
ER
PT J
AU Abekhoukh, S
Bardoni, B
AF Abekhoukh, Sabiha
Bardoni, Barbara
TI CYFIP family proteins between autism and intellectual disability: links
with Fragile X syndrome
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Review
DE autism; intellectual disability; Fragile X; CYFIP family proteins; WAVE
complex; F-actin; dendritic spines
ID MENTAL-RETARDATION PROTEIN; PRADER-WILLI-SYNDROME; SYNDROME MOUSE MODEL;
MESSENGER-RNA; DENDRITIC SPINE; WAVE COMPLEX; TRANSLATING POLYRIBOSOMES;
RECURRENT MICRODELETIONS; NEURONAL CONNECTIVITY; SYNAPTIC PLASTICITY
AB Intellectual disability (ID) and autism spectrum disorders (ASDs) have in common alterations in some brain circuits and brain abnormalities, such as synaptic transmission and dendritic spines morphology. Recent studies have indicated a differential expression for specific categories of genes as a cause for both types of disease, while an increasing number of genes is recognized to produce both disorders. An example is the Fragile X mental retardation gene 1 (FMR1), whose silencing causes the Fragile X syndrome, the most common form of ID and autism, also characterized by physical hallmarks. Fragile X mental retardation protein (FMRP), the protein encoded by FMR1, is an RNA-binding protein with an important role in translational control. Among the interactors of FMRP CYFIP1/2 (cytoplasmic FMRP interacting protein) proteins are good candidates for ID and autism, on the bases of their genetic implication and functional properties, even if the precise functional significance of the CYFIP/FMRP interaction is not understood yet. CYFIP1 and CYFIP2 represent a link between Rac1, the WAVE (WAS protein family member) complex and FMRP favoring the cross talk between actin polymerization and translational control.
C1 [Abekhoukh, Sabiha; Bardoni, Barbara] CNRS, Inst Mol & Cellular Pharmacol, UMR 7275, F-06560 Valbonne, France.
[Abekhoukh, Sabiha; Bardoni, Barbara] Univ Nice Sophia Antipolis, F-06189 Nice, France.
[Abekhoukh, Sabiha; Bardoni, Barbara] CNRS, Int Associated Labs NEOGENEX, F-06560 Valbonne, France.
RP Bardoni, B (reprint author), CNRS, Inst Mol & Cellular Pharmacol, UMR7275, 660 Route Lucioles, F-06560 Valbonne, France.
EM bardoni@ipmc.cnrs.fr
RI Bardoni, Barbara/F-9918-2013
FU INSERM; CNRS LIA NEOGENEX; Agence Nationale de la Recherche
[ANR-11-LABX-0028-01, SVSE4-2012, SVSE8-2012]; ARC (Fondation ARC pour
la Recherche Sur le Cancer) fellowship
FX The authors are grateful to Dr, F. Lalli for critical reading of the
manuscript, Prof, F. Askenazy for discussion and to Frank Aguila for
graphics. This study was supported by INSERM, CNRS LIA NEOGENEX, Agence
Nationale de la Recherche: ANR-11-LABX-0028-01 ANR-Blanc (Molecular
Biology) SVSE4-2012, and ANR-Blanc (Neuroscience) SVSE8-2012. Sabiha
Abekhoukh is recipient of an ARC (Fondation ARC pour la Recherche Sur le
Cancer) fellowship.
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NR 87
TC 5
Z9 5
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD MAR 27
PY 2014
VL 8
AR 81
DI 10.3389/fncel.2014.00081
PG 9
WC Neurosciences
SC Neurosciences & Neurology
GA AD7RM
UT WOS:000333462900001
PM 24733999
ER
PT J
AU Wang, HS
AF Wang, Hansen
TI Lipid rafts: a signaling platform linking cholesterol metabolism to
synaptic deficits in autism spectrum disorders
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Editorial Material
DE cholesterol; lipid rafts; autism spectrum disorders; synaptic
plasticity; fragile X syndrome; Reft syndrome; FMRP; statins
ID LEMLI-OPITZ-SYNDROME; METABOTROPIC GLUTAMATE RECEPTORS; X
MENTAL-RETARDATION; RETT-SYNDROME; MOUSE MODEL; PROTEIN-SYNTHESIS;
MEMBRANE RAFTS; GENETICS; MUTATIONS; DISEASE
C1 Univ Toronto, Fac Med, Toronto, ON, Canada.
RP Wang, HS (reprint author), Univ Toronto, Fac Med, Toronto, ON, Canada.
EM hansen.wang@utoronto.ca
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NR 61
TC 4
Z9 4
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5153
J9 FRONT BEHAV NEUROSCI
JI Front. Behav. Neurosci.
PD MAR 27
PY 2014
VL 8
AR 104
DI 10.3389/fnbeh.2014.00104
PG 6
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AD7BM
UT WOS:000333416000001
PM 24723866
ER
PT J
AU Jerng, HH
Pfaffinger, PJ
AF Jerng, Henry H.
Pfaffinger, Paul J.
TI Modulatory mechanisms and multiple functions of somatodendritic A-type
K+ channel auxiliary subunits
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Review
DE somatodendritic A-type current; potassium channel; auxiliary subunit; Kv
channel-interacting protein; dipeptidyl peptidase-like protein;
N-terminal variant; modulatory mechanism; excitability
ID AMYOTROPHIC-LATERAL-SCLEROSIS; CEREBELLAR GRANULE CELLS; HIPPOCAMPAL
PYRAMIDAL NEURONS; CLOSED-STATE INACTIVATION; CELLULAR PRION PROTEIN;
PEPTIDASE-LIKE PROTEIN; DIPEPTIDYL AMINOPEPTIDASE FAMILY; TRANSIENT
OUTWARD CURRENTS; AUTISM SPECTRUM DISORDER; KV4.2 POTASSIUM CHANNELS
AB Auxiliary subunits are non-conducting, modulatory components of the multi-protein ion channel complexes that underlie normal neuronal signaling. They interact with the pore-forming alpha-subunits to modulate surface distribution, ion conductance, and channel gating properties. For the somatodendritic subthreshold A-type potassium (I-SA) channel based on Kv4 alpha-subunits, two types of auxiliary subunits have been extensively studied: Kv channel-interacting proteins (KChIPs) and dipeptidyl peptidase-like proteins (DPLPs). KChIPs are cytoplasmic calcium-binding proteins that interact with intracellular portions of the Kv4 subunits, whereas DPLPs are type II transmembrane proteins that associate with the Kv4 channel core. Both KChIPs and DPLPs genes contain multiple start sites that are used by various neuronal populations to drive the differential expression of functionally distinct N-terminal variants. In turn, these N-terminal variants generate tremendous functional diversity across the nervous system. Here, we focus our review on (1) the molecular mechanism underlying the unique properties of different N-terminal variants, (2) the shaping of native I-SA properties by the concerted actions of KChIPs and DPLP variants, and (3) the surprising ways that KChIPs and DPLPs coordinate the activity of multiple channels to fine-tune neuronal excitability. Unlocking the unique contributions of different auxiliary subunit N-terminal variants may provide an important opportunity to develop novel targeted therapeutics to treat numerous neurological disorders.
C1 [Jerng, Henry H.; Pfaffinger, Paul J.] Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA.
RP Jerng, HH (reprint author), Baylor Coll Med, Dept Neurosci, One Baylor Plaza,S630, Houston, TX 77030 USA.
EM hjerng@cns.bcm.edu
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NR 182
TC 5
Z9 5
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD MAR 27
PY 2014
VL 8
AR 82
DI 10.3389/fncel.2014.00082
PG 20
WC Neurosciences
SC Neurosciences & Neurology
GA AD7BR
UT WOS:000333416600001
PM 24723849
ER
PT J
AU Wassink, TH
Hazlett, HC
Davis, LK
Reiss, AL
Piven, J
AF Wassink, Thomas H.
Hazlett, Heather C.
Davis, Lea K.
Reiss, Allan L.
Piven, Joseph
TI Testing for association of the monoamine oxidase A promoter polymorphism
with brain structure volumes in both autism and the fragile X syndrome
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Fragile X syndrome; Brain structure; Monoamine oxidase A;
Polymorphism
ID SEROTONIN TRANSPORTER GENE; ROBUST PEDIGREE ANALYSIS; FUNCTIONAL
POLYMORPHISM; NEUROPSYCHIATRIC DISORDERS; SPECTRUM DISORDERS;
MENTAL-RETARDATION; INBRED STRAINS; NORRIE-DISEASE; MAOA GENOTYPE;
BEHAVIOR
AB Background: Autism and the fragile X syndrome (FXS) are related to each other genetically and symptomatically. A cardinal biological feature of both disorders is abnormalities of cerebral cortical brain volumes. We have previously shown that the monoamine oxidase A (MAOA) promoter polymorphism is associated with cerebral cortical volumes in children with autism, and we now sought to determine whether the association was also present in children with FXS.
Methods: Participants included 47 2-year-old Caucasian boys with FXS, some of whom also had autism, as well as 34 2-year-old boys with idiopathic autism analyzed in a previous study. The MAOA promoter polymorphism was genotyped and tested for relationships with gray and white matter volumes of the cerebral cortical lobes and cerebro-spinal fluid volume of the lateral ventricles.
Results: MAOA genotype effects in FXS children were the same as those previously observed in idiopathic autism: the low activity MAOA promoter polymorphism allele was associated with increased gray and white matter volumes in all cerebral lobes. The effect was most pronounced in frontal lobe gray matter and all three white matter regions: frontal gray, F = 4.39, P = 0.04; frontal white, F = 5.71, P = 0.02; temporal white, F = 4.73, P = 0.04; parieto-occipital white, F = 5.00, P = 0.03. Analysis of combined FXS and idiopathic autism samples produced P values for these regions <0.01 and effect sizes of approximately 0.10.
Conclusions: The MAOA promoter polymorphism is similarly associated with brain structure volumes in both idiopathic autism and FXS. These data illuminate a number of important aspects of autism and FXS heritability: a genetic effect on a core biological trait of illness, the specificity/generalizability of the genetic effect,
C1 [Wassink, Thomas H.] Univ Iowa Carver Coll Med, Dept Psychiat, Iowa City, IA 52242 USA.
[Hazlett, Heather C.; Piven, Joseph] Univ N Carolina, Neurodev Disorders Res Ctr, Chapel Hill, NC USA.
[Hazlett, Heather C.; Piven, Joseph] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
[Davis, Lea K.] Univ Chicago, Dept Med, Med Genet Sect, Chicago, IL 60637 USA.
[Reiss, Allan L.] Stanford Univ, Ctr Interdisciplinary Brain Sci Res, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
RP Wassink, TH (reprint author), Univ Iowa Carver Coll Med, Dept Psychiat, 1-191 MEB, Iowa City, IA 52242 USA.
EM thomas-wassink@uiowa.edu
FU National Institute of Mental Health [R01MH050047, T32MH019908,
R01MH064708, R01MH064580, MH061696]; National Institute of Child Health
and Human Development [P30HD003110]; Canel Family Fund
FX This study was supported by grants R01MH050047 (AR), T32MH019908 (AR),
R01MH064708 (AR), R01MH064580 (JP), and MH061696 (JP) from the National
Institute of Mental Health, grant P30HD003110 from the National
Institute of Child Health and Human Development (JP), and the Canel
Family Fund.
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NR 62
TC 1
Z9 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD MAR 26
PY 2014
VL 6
AR 6
DI 10.1186/1866-1955-6-6
PG 9
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AF7EQ
UT WOS:000334876800001
PM 24669826
ER
PT J
AU Pignatelli, M
Piccinin, S
Molinaro, G
Di Menna, L
Riozzi, B
Cannella, M
Motolese, M
Vetere, G
Catania, MV
Battaglia, G
Nicoletti, F
Nistico, R
Bruno, V
AF Pignatelli, Marco
Piccinin, Sonia
Molinaro, Gemma
Di Menna, Luisa
Riozzi, Barbara
Cannella, Milena
Motolese, Marta
Vetere, Gisella
Catania, Maria Vincenza
Battaglia, Giuseppe
Nicoletti, Ferdinando
Nistico, Robert
Bruno, Valeria
TI Changes in mGlu5 Receptor-Dependent Synaptic Plasticity and Coupling to
Homer Proteins in the Hippocampus of Ube3A Hemizygous Mice Modeling
Angelman Syndrome
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE Angelman syndrome; hippocampus; Homer proteins; LTD; metabotropic
glutamate receptors
ID LONG-TERM DEPRESSION; FRAGILE-X-SYNDROME; METABOTROPIC GLUTAMATE
RECEPTORS; UBIQUITIN-PROTEASOME SYSTEM; MENTAL-RETARDATION; MOUSE MODEL;
IP3 RECEPTORS; TRANSLATION; ACTIVATION; INDUCTION
AB Angelman syndrome (AS) is caused by the loss of Ube3A, an ubiquitin ligase that commits specific proteins to proteasomal degradation. How this defect causes autism and other pathological phenotypes associated with AS is unknown. Long-term depression (LTD) of excitatory synaptic transmission mediated by type 5 metabotropic glutamate (mGlu5) receptors was enhanced in hippocampal slices of Ube3A(m-/p+) mice, which model AS. No changes were found in NMDA-dependent LTD induced by low-frequency stimulation. mGlu5 receptor-dependent LTD in AS mice was sensitive to the protein synthesis inhibitor anisomycin, and relied on the same signaling pathways as in wild-type mice, e. g., the mitogen-activated protein kinase (MAPK) pathway, the phosphatidylinositol-3-kinase (PI3K)/mammalian target of rapamycine pathway, and protein tyrosine phosphatase. Neither the stimulation of MAPK and PI3K nor the increase in Arc (activity-regulated cytoskeleton-associated protein) levels in response to mGlu5 receptor activation were abnormal in hippocampal slices from AS mice compared with wild-type mice. mGlu5 receptor expression and mGlu1/5 receptor-mediated polyphosphoinositide hydrolysis were also unchanged in the hippocampus of AS mice. In contrast, AS mice showed a reduced expression of the short Homerprotein isoformHomer 1a, and an increased coupling of mGlu5 receptors to Homer 1b/c proteins in the hippocampus. These findings support the link between Homer proteins and monogenic autism, and lay the groundwork for the use of mGlu5 receptor antagonists in AS.
C1 [Pignatelli, Marco; Piccinin, Sonia; Nicoletti, Ferdinando; Nistico, Robert; Bruno, Valeria] Univ Roma La Sapienza, Dept Physiol & Pharmacol, I-00185 Rome, Italy.
[Pignatelli, Marco; Piccinin, Sonia] European Brain Res Inst, Pharmacol Synapt Plast Unit, I-00143 Rome, Italy.
[Molinaro, Gemma; Di Menna, Luisa; Riozzi, Barbara; Cannella, Milena; Motolese, Marta; Battaglia, Giuseppe; Nicoletti, Ferdinando; Bruno, Valeria] Ist Ricovero & Cura Carattere Sci IRCCS Neuromed, I-86077 Pozzilli, Italy.
[Vetere, Gisella; Nistico, Robert] IRCCS Fdn Santa Lucia, I-00143 Rome, Italy.
[Vetere, Gisella] CNR, Inst Cell Biol & Neurobiol, I-00143 Rome, Italy.
[Catania, Maria Vincenza] CNR, Inst Neurol Sci, I-95126 Catania, Italy.
[Catania, Maria Vincenza] IRCCS Oasi Maria SS, I-94018 Troina, Italy.
RP Bruno, V (reprint author), Dept Physiol & Pharmacol, Piazzale Aldo Moro 5, I-00185 Rome, Italy.
EM valeria.bruno@uniroma1.it
RI Riozzi, Barbara/A-8737-2013; motolese, marta/G-8274-2011
OI motolese, marta/0000-0001-8211-7728
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NR 59
TC 6
Z9 7
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD MAR 26
PY 2014
VL 34
IS 13
BP 4558
EP 4566
DI 10.1523/JNEUROSCI.1846-13.2014
PG 9
WC Neurosciences
SC Neurosciences & Neurology
GA AE0RP
UT WOS:000333674200012
PM 24672001
ER
PT J
AU Barth, L
Sutterlin, R
Nenniger, M
Vogt, KE
AF Barth, Lydia
Suetterlin, Rosmarie
Nenniger, Markus
Vogt, Kaspar E.
TI Reduced synaptic activity in neuronal networks derived from embryonic
stem cells of murine Rett syndrome model
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE Rett syndrome; stem cell-derived neurons; neurodevelopment;
electrophysiology; excitability; synaptic activity
ID CPG-BINDING PROTEIN-2; MOUSE MODEL; MECP2-DEFICIENT MICE; DELAYED
MATURATION; NEURAL DEVELOPMENT; PYRAMIDAL NEURONS; MECP2; DEFICIENCY;
DYSFUNCTION; EXPRESSION
AB Neurodevelopmental diseases such as the Rett syndrome (RTT) have received renewed attention, since the mechanisms involved may underlie a broad range of neuropsychiatric disorders such as schizophrenia and autism. In vertebrates early stages in the functional development of neurons and neuronal networks are difficult to study. Embryonic stem cell-derived neurons provide an easily accessible tool to investigate neuronal differentiation and early network formation. We used in vitro cultures of neurons derived from murine embryonic stem cells missing the methyl-CpG-binding protein 2 (MECP2) gene (MeCP2-/y) and from wild type cells of the corresponding background. Cultures were assessed using whole-cell patch-clamp electrophysiology and immunofluorescence. We studied the functional maturation of developing neurons and the activity of the synaptic connections they formed. Neurons exhibited minor differences in the developmental patterns for their intrinsic parameters, such as resting membrane potential and excitability; with the MeCP2-/y cells showing a slightly accelerated development, with shorter action potential half-widths at early stages. There was no difference in the early phase of synapse development, but as the cultures matured, significant deficits became apparent, particularly for inhibitory synaptic activity. MeCP2-/y embryonic stem cell-derived neuronal cultures show clear developmental deficits that match phenotypes observed in slice preparations and thus provide a compelling tool to further investigate the mechanisms behind RTT pathophysiology.
C1 [Barth, Lydia; Suetterlin, Rosmarie; Nenniger, Markus; Vogt, Kaspar E.] Univ Basel, Biozentrum, CH-4056 Basel, Switzerland.
RP Vogt, KE (reprint author), Univ Basel, Biozentrum, Klingelbergstr 50-70, CH-4056 Basel, Switzerland.
EM kaspar.vogt@unibas.ch
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NR 32
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD MAR 26
PY 2014
VL 8
AR 79
DI 10.3389/fncel.2014.00079
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AD7BP
UT WOS:000333416400001
PM 24723848
ER
PT J
AU Marrale, M
Albanese, NN
Cali, F
Romano, V
AF Marrale, Maurizio
Albanese, Nadia Ninfa
Cali, Francesco
Romano, Valentino
TI Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by
Monte Carlo Simulation
SO PLOS ONE
LA English
DT Article
ID LYMPHOBLASTOID CELL-LINES; DE-NOVO MUTATIONS; SPECTRUM DISORDERS; HUMAN
GENOME; EXPRESSION; MICRORNAS; PATHWAYS; REVEALS; GENETICS; ETIOLOGY
AB Autism Spectrum Disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins. Previous studies have investigated the role of de novo Copy Number Variants (CNVs) and microRNAs as important but distinct etiological factors in ASD. We developed a novel computational procedure to assess the potential pathogenic role of microRNA genes overlapping de novo CNVs in ASD patients. Here we show that for chromosomes # 1, 2 and 22 the actual number of miRNA loci affected by de novo CNVs in patients was found significantly higher than that estimated by Monte Carlo simulation of random CNV events. Out of 24 miRNA genes over-represented in CNVs from these three chromosomes only hsa-mir-4436b-1 and hsa-mir-4436b-2 have not been detected in CNVs from non-autistic subjects as reported in the Database of Genomic Variants. Altogether the results reported in this study represent a first step towards a full understanding of how a dysregulated expression of the 24 miRNAs genes affect neurodevelopment in autism. We also propose that the procedure used in this study can be effectively applied to CNVs/miRNA genes association data in other genomic disorders beyond autism.
C1 [Marrale, Maurizio; Albanese, Nadia Ninfa; Romano, Valentino] Univ Palermo, Dipartimento Fis & Chim, Palermo, Italy.
[Cali, Francesco; Romano, Valentino] Assoc Oasi Maria SS IRCCS, UOC Genet Med Lab Genet Mol, Troina, Italy.
RP Romano, V (reprint author), Univ Palermo, Dipartimento Fis & Chim, Palermo, Italy.
EM valentino.romano@unipa.it
RI MARRALE, MAURIZIO/I-9926-2014
OI MARRALE, MAURIZIO/0000-0002-0091-3243
FU University of Palermo; Italian Ministry of Health
FX The authors acknowledge funding from University of Palermo and from the
Italian Ministry of Health: "Ricerca corrente 2013" entitled: "Ritardo
mentale, epilessia e autismo: studio genetico, clinico e
neurofisiologico". The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript.
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NR 56
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAR 25
PY 2014
VL 9
IS 3
AR e90947
DI 10.1371/journal.pone.0090947
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AE0SD
UT WOS:000333675600004
PM 24667286
ER
PT J
AU Clumeck, C
Garcia, SS
Bourguignon, M
Wens, V
Op de Beeck, M
Marty, B
Deconinck, N
Soncarrieu, MV
Goldman, S
Jousmaki, V
Van Bogaert, P
De Tiege, X
AF Clumeck, Catherine
Garcia, Sarah Suarez
Bourguignon, Mathieu
Wens, Vincent
Op de Beeck, Marc
Marty, Brice
Deconinck, Nicolas
Soncarrieu, Marie-Vincianne
Goldman, Serge
Jousmaki, Veikko
Van Bogaert, Patrick
De Tiege, Xavier
TI Preserved Coupling between the Reader's Voice and the Listener's
Cortical Activity in Autism Spectrum Disorders
SO PLOS ONE
LA English
DT Article
ID SUPERIOR TEMPORAL SULCUS; HIGH-FUNCTIONING AUTISM; HUMAN
AUDITORY-CORTEX; SOCIAL-PERCEPTION; SPEECH-PERCEPTION;
ASPERGER-SYNDROME; CHILDHOOD AUTISM; MIRROR NEURONS; HUMAN BRAIN;
CHILDREN
AB Purpose: Investigating the steadiness of the phase-coupling between the time-course of the reader's voice and brain signals of subjects with autism spectrum disorder (ASD) passively listening to connected speech using magnetoencephalography (MEG). In typically developed subjects, such coupling occurs at the right posterior temporal sulcus (pSTS) for frequencies below 1 Hz, and reflects the neural processing of sentence-level rhythmic prosody at the prelexical level.
Methods: Cortical neuromagnetic signals were recorded with MEG (Elekta Oy, Finland) while seven right-handed and native French-speaking ASD subjects (six males, one female, range: 13-20 years) listened to live (Live) or recorded (Recorded) voices continuously reading a text in French for five minutes. Coherence was computed between the reader's voice time-course and ASD subjects' MEG signals. Coherent neural sources were subsequently reconstructed using a beamformer.
Key findings: Significant coupling was found at 0.5 Hz in all ASD subjects in Live and in six subjects in Recorded. Coherent sources were located close to the right pSTS in both conditions. No significant difference was found in coherence levels between Live and Recorded, and between ASD subjects and ten typically developed subjects (right-handed, native French-speaking adults, 5 males, 5 females, age range: 21-38 years) included in a previous study.
Significance: This study discloses a preserved coupling between the reader's voice and ASD subjects' cortical activity at the right pSTS. These findings support the existence of preserved neural processing of sentence-level rhythmic prosody in ASD. The preservation of early cortical processing of prosodic elements in verbal language might be exploited in therapeutic interventions in ASD.
C1 [Clumeck, Catherine; Garcia, Sarah Suarez; Bourguignon, Mathieu; Wens, Vincent; Op de Beeck, Marc; Marty, Brice; Goldman, Serge; Van Bogaert, Patrick; De Tiege, Xavier] Univ Libre Brussels, UNI ULB Neurosci Inst, Lab Cartog Fonct Cerveau, Brussels, Belgium.
[Clumeck, Catherine] Univ Libre Brussels, UNI ULB Neurosci Inst, Lab Rech Psychiat, Brussels, Belgium.
[Deconinck, Nicolas; Soncarrieu, Marie-Vincianne] Hop Univ Enfants Reine Fabiola, Ctr Reference Troubles Envahissants Dev & Trouble, Brussels, Belgium.
[Jousmaki, Veikko] Aalto Univ, Brain Res Unit, OV Lounasmaa Lab, Espoo, Finland.
[Jousmaki, Veikko] Aalto Univ, MEG Core, Espoo, Finland.
RP De Tiege, X (reprint author), Univ Libre Brussels, UNI ULB Neurosci Inst, Lab Cartog Fonct Cerveau, Brussels, Belgium.
EM xdetiege@ulb.ac.be
RI Bourguignon, Mathieu/I-6967-2012
OI Bourguignon, Mathieu/0000-0003-1694-5087
FU Fonds de la Recherche Scientifique (FRS-FNRS, Belgium); FRS-FNRS
[J.0021.13]
FX Catherine Clumeck (Research Fellow) and Xavier De Tiege (Postdoctorate
Clinical Master Specialist) benefit of a research grant form the Fonds
de la Recherche Scientifique (FRS-FNRS, Belgium). This study was
supported by a research grant from the FRS-FNRS (research project:
J.0021.13). The funders had no role in study design, data collection and
analysis, decision to publish, or preparation of the manuscript.
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NR 65
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAR 24
PY 2014
VL 9
IS 3
AR e92329
DI 10.1371/journal.pone.0092329
PG 8
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AD7QO
UT WOS:000333459900052
PM 24663673
ER
PT J
AU Wong, CT
Ahmad, E
Li, HY
Crawford, DA
AF Wong, Christine T.
Ahmad, Eizaaz
Li, Hongyan
Crawford, Dorota A.
TI Prostaglandin E2 alters Wnt-dependent migration and proliferation in
neuroectodermal stem cells: implications for autism spectrum disorders
SO CELL COMMUNICATION AND SIGNALING
LA English
DT Article
DE Prostaglandin E2; Wnt signalling; Neuroectodermal stem cells; Cell
motility; Proliferation; Autism
ID HEPATOCELLULAR-CARCINOMA CELLS; CYCLIN D1 GENE; BETA-CATENIN; PROSTANOID
RECEPTORS; HISTONE H3; MATRIX METALLOPROTEINASES; NEURONAL
DIFFERENTIATION; CHROMOSOME CONDENSATION; CORTICAL DEVELOPMENT;
SIGNALING PATHWAY
AB Prostaglandin E2 (PGE(2)) is a natural lipid-derived molecule that is involved in important physiological functions. Abnormal PGE(2) signalling has been associated with pathologies of the nervous system. Previous studies provide evidence for the interaction of PGE(2) and canonical Wnt signalling pathways in non-neuronal cells. Since the Wnt pathway is crucial in the development and organization of the brain, the main goal of this study is to determine whether collaboration between these pathways exists in neuronal cell types. We report that PGE(2) interacts with canonical Wnt signalling through PKA and PI-3K in neuroectodermal (NE-4C) stem cells. We used time-lapse microscopy to determine that PGE(2) increases the final distance from origin, path length travelled, and the average speed of migration in Wnt-activated cells. Furthermore, PGE(2) alters distinct cellular phenotypes that are characteristic of Wnt-induced NE-4C cells, which corresponds to the modified splitting behaviour of the cells. We also found that in Wnt-induced cells the level of beta-catenin protein was increased and the expression levels of Wnt-target genes (Ctnnb1, Ptgs2, Ccnd1, Mmp9) was significantly upregulated in response to PGE(2) treatment. This confirms that PGE(2) activated the canonical Wnt signalling pathway. Furthermore, the upregulated genes have been previously associated with ASD. Our findings show, for the first time, evidence for cross-talk between PGE(2) and Wnt signalling in neuronal cells, where PKA and PI-3K might act as mediators between the two pathways. Given the importance of PGE(2) and Wnt signalling in prenatal development of the nervous system, our study provides insight into how interaction between these two pathways may influence neurodevelopment.
C1 [Wong, Christine T.; Li, Hongyan; Crawford, Dorota A.] York Univ, Sch Kinesiol & Hlth Sci, Toronto, ON M3J 1P3, Canada.
[Wong, Christine T.; Crawford, Dorota A.] York Univ, Neurosci Grad Diploma Program, Toronto, ON M3J 1P3, Canada.
[Ahmad, Eizaaz; Crawford, Dorota A.] York Univ, Fac Hlth, Dept Biol, Toronto, ON M3J 1P3, Canada.
RP Crawford, DA (reprint author), York Univ, Sch Kinesiol & Hlth Sci, 4700 Keele St, Toronto, ON M3J 1P3, Canada.
EM dakc@yorku.ca
FU Natural Sciences and Engineering Research Council of Canada (NSERC)
FX This research work was supported by the Natural Sciences and Engineering
Research Council of Canada (NSERC).
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NR 131
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1478-811X
J9 CELL COMMUN SIGNAL
JI Cell Commun. Signal.
PD MAR 23
PY 2014
VL 12
AR 19
DI 10.1186/1478-811X-12-19
PG 18
WC Cell Biology
SC Cell Biology
GA AF3UY
UT WOS:000334639000001
PM 24656144
ER
PT J
AU Smith, RG
Fernandes, C
Kember, R
Schalkwyk, LC
Buxbaum, J
Reichenberg, A
Mill, J
AF Smith, Rebecca G.
Fernandes, Cathy
Kember, Rachel
Schalkwyk, Leonard C.
Buxbaum, Joseph
Reichenberg, Abraham
Mill, Jonathan
TI Transcriptomic changes in the frontal cortex associated with paternal
age
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism; Advanced paternal age; Gene expression; Transcriptome;
Inflammation; Immune response; Brain
ID AUTISM SPECTRUM DISORDERS; DE-NOVO MUTATIONS; LARGE GENE LISTS;
DIFFERENTIAL REGULATION; NEUROTROPHIC FACTOR; EXPRESSION; BRAIN;
MICROARRAY; PATHWAYS; PROTEIN
AB Background: Advanced paternal age is robustly associated with several human neuropsychiatric disorders, particularly autism. The precise mechanism(s) mediating the paternal age effect are not known, but they are thought to involve the accumulation of de novo (epi)genomic alterations. In this study we investigate differences in the frontal cortex transcriptome in a mouse model of advanced paternal age.
Findings: Transcriptomic profiling was undertaken for medial prefrontal cortex tissue dissected from the male offspring of young fathers (2 month old, 4 sires, n = 16 offspring) and old fathers (10 month old, 6 sires, n = 16 offspring) in a mouse model of advancing paternal age. We found a number of differentially expressed genes in the offspring of older fathers, many previously implicated in the aetiology of autism. Pathway analysis highlighted significant enrichment for changes in functional networks involved in inflammation and inflammatory disease, which are also implicated in autism.
Conclusions: We observed widespread alterations to the transcriptome associated with advanced paternal age with an enrichment of genes associated with inflammation, an interesting observation given previous evidence linking the immune system to several neuropsychiatric disorders including autism.
C1 [Smith, Rebecca G.; Fernandes, Cathy; Kember, Rachel; Schalkwyk, Leonard C.; Reichenberg, Abraham; Mill, Jonathan] Kings Coll London, Inst Psychiat, London SE5 8AF, England.
[Buxbaum, Joseph; Reichenberg, Abraham] Mt Sinai Sch Med, New York, NY 10029 USA.
[Mill, Jonathan] Univ Exeter, Sch Med, Exeter EX1 2LU, Devon, England.
RP Mill, J (reprint author), Kings Coll London, Inst Psychiat, De Crespigny Pk,Denmark Hill, London SE5 8AF, England.
EM j.mill@exeter.ac.uk
RI Smith, Rebecca/C-1978-2012; Fernandes, Cathy/F-3422-2011; Schalkwyk,
Leonard/A-2150-2010; Mill, Jonathan/B-3276-2010
OI Schalkwyk, Leonard/0000-0001-7030-5756; Mill,
Jonathan/0000-0003-1115-3224
FU Beatrice and Samuel A Seaver Foundation; British Medical Association
Margaret Temple Award; National Institute of Health Research Biomedical
Research Centre for Mental Health at the South London and Maudsley
National Health Service Foundation Trust; Institute of Psychiatry,
King's College London
FX This study was supported by the Beatrice and Samuel A Seaver Foundation,
by a British Medical Association Margaret Temple Award, and the National
Institute of Health Research Biomedical Research Centre for Mental
Health at the South London and Maudsley National Health Service
Foundation Trust and the Institute of Psychiatry, King's College London,
Pilot Award to Drs Jonathan Mill and Abraham (Avi) Reichenberg.
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NR 28
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD MAR 23
PY 2014
VL 5
AR 24
DI 10.1186/2040-2392-5-24
PG 7
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF8LE
UT WOS:000334966500001
PM 24655730
ER
PT J
AU Makin, S
AF Makin, Simon
TI Environment linked to autism rise once again
SO NEW SCIENTIST
LA English
DT News Item
NR 0
TC 0
Z9 0
PU REED BUSINESS INFORMATION LTD
PI SUTTON
PA QUADRANT HOUSE THE QUADRANT, SUTTON SM2 5AS, SURREY, ENGLAND
SN 0262-4079
J9 NEW SCI
JI New Sci.
PD MAR 22
PY 2014
VL 221
IS 2961
BP 11
EP 11
PG 1
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AD7WB
UT WOS:000333476500006
ER
PT J
AU Smith, CM
Walker, AW
Hosken, IT
Chua, BE
Zhang, C
Haidar, M
Gundlach, AL
AF Smith, Craig M.
Walker, Andrew W.
Hosken, Ihaia T.
Chua, Berenice E.
Zhang, Cary
Haidar, Mouna
Gundlach, Andrew L.
TI Relaxin-3/RXFP3 networks: an emerging target for the treatment of
depression and other neuro psychiatric diseases?
SO FRONTIERS IN PHARMACOLOGY
LA English
DT Review
DE relaxin-3; RXFP3; neuropeptide; arousal; stress; mood and depression;
autism spectrum disorders; eating disorders
ID CORTICOTROPIN-RELEASING-FACTOR; HIPPOCAMPAL-THETA-RHYTHM;
CENTRAL-NERVOUS-SYSTEM; INTERGENICULATE LEAFLET NEURONS; RELAXIN FAMILY
PEPTIDES; RECEPTOR MESSENGER-RNA; DORSAL RAPHE NUCLEUS; MALE WISTAR
RATS; NEUROPEPTIDE-Y; STRIA TERMINALIS
AB Animal and clinical studies of gene-environment interactions have helped elucidate the mechanisms involved in the pathophysiology of several mental illnesses including anxiety, depression, and schizophrenia; and have led to the discovery of improved treatments. The study of neuropeptides and their receptors is a parallel frontier of neuropsychopharmacology research and has revealed the involvement of several peptide systems in mental illnesses and identified novel targets for their treatment. Relaxin-3 is a newly discovered neuropeptide that binds, and activates the G-protein coupled receptor, RXFP3. Existing anatomical and functional evidence suggests relaxin-3 is an arousal transmitter which is highly responsive to environmental stimuli, particularly neurogenic stressors, and in turn modulates behavioral responses to these stressors and alters key neural processes, including hippocampal theta rhythm and associated learning and memory. Here, we review published experimental data on relaxin-3/RXFP3 systems in rodents, and attempt to highlight aspects that are relevant and/or potentially translatable to the etiology and treatment of major depression and anxiety. Evidence pertinent to autism spectrum and metabolism/eating disorders, or related psychiatric conditions, is also discussed. We also nominate some key experimental studies required to better establish the therapeutic potential of this intriguing neuromodulatory signaling system, including an examination of the impact of RXFP3 agonists and antagonists on the overall activity of distinct or common neural substrates and circuitry that are identified as dysfunctional in these debilitating brain diseases.
C1 [Smith, Craig M.; Walker, Andrew W.; Hosken, Ihaia T.; Chua, Berenice E.; Zhang, Cary; Haidar, Mouna; Gundlach, Andrew L.] Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Neuropeptides Div, Peptide Neurobiol Lab, Parkville, Vic 3052, Australia.
[Smith, Craig M.; Walker, Andrew W.; Hosken, Ihaia T.; Zhang, Cary; Haidar, Mouna; Gundlach, Andrew L.] Univ Melbourne, Florey Dept Neurosci & Mental Hlth, Melbourne, Vic 3010, Australia.
[Gundlach, Andrew L.] Univ Melbourne, Dept Anat & Neurosci, Parkville, Vic 3052, Australia.
RP Smith, CM (reprint author), Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Neuropeptides Div, Peptide Neurobiol Lab, 30 Royal Parade, Parkville, Vic 3052, Australia.
EM craig.smith@florey.edu.au; andrew.gundlach@florey.edu.au
FU National Health and Medical Research Council (NHMRC) of Australia
[509246, 1005988, 1024885]; Pratt Foundation; Besen Foundation;
Victorian Government Strategic Investment
FX The research in the authors' laboratory reviewed here was supported by
grants from the National Health and Medical Research Council (NHMRC) of
Australia (509246, 1005988, and 1024885) and the Pratt and Besen
Foundations, and by the Victorian Government Strategic Investment.
Andrew L. Gundlach is an NHMRC (Australia) Senior Research Fellow and a
Brain & Behavior Research Foundation (USA) NARSAD Independent
Investigator. The authors acknowledge the contribution of their current
and former colleagues to the relaxin-3 related research reviewed.
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NR 241
TC 7
Z9 7
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1663-9812
J9 FRONT PHARMACOL
JI Front. Pharmacol.
PD MAR 21
PY 2014
VL 5
AR 46
DI 10.3389/fphar.2014.00046
PG 17
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AX6WS
UT WOS:000347059600001
PM 24711793
ER
PT J
AU Tavassoli, T
Kolevzon, A
Wang, AT
Curchack-Lichtin, J
Halpern, D
Schwartz, L
Soffes, S
Bush, L
Grodberg, D
Cai, GQ
Buxbaum, JD
AF Tavassoli, Teresa
Kolevzon, Alexander
Wang, A. Ting
Curchack-Lichtin, Jocelyn
Halpern, Danielle
Schwartz, Lily
Soffes, Sarah
Bush, Lauren
Grodberg, David
Cai, Guiqing
Buxbaum, Joseph D.
TI De novo SCN2A splice site mutation in a boy with Autism spectrum
disorder
SO BMC MEDICAL GENETICS
LA English
DT Article
DE DSM-5; autism spectrum disorder; de novo SCN2A splice site mutation
ID SENSORY OVER-RESPONSIVITY; INFANTILE SEIZURES; YOUNG-CHILDREN; SCN3A
GENES; EPILEPSY; SCN1A; ABNORMALITIES; PROFILE; RETARDATION; DUPLICATION
AB Background: SCN2A is a gene that codes for the alpha subunit of voltage-gated, type II sodium channels, and is highly expressed in the brain. Sodium channel disruptions, such as mutations in SCN2A, may play an important role in psychiatric disorders. Recently, de novo SCN2A mutations in autism spectrum disorder (ASD) have been identified. The current study characterizes a de novo splice site mutation in SCN2A that alters mRNA and protein products.
Case presentation: We describe results from clinical and genetic characterizations of a seven-year-old boy with ASD. Psychiatric interview and gold standard autism diagnostic instruments (ADOS and ADI-R) were used to confirm ASD diagnosis, in addition to performing standardized cognitive and adaptive functioning assessments (Leiter-R and Vineland Adaptive Behavior Scale), and sensory reactivity assessments (Sensory Profile and Sensory Processing Scales). Genetic testing by whole exome sequencing revealed four de novo events, including a splice site mutation c.476 + 1G > A in SCN2A, a missense mutation (c.2263G > A) causing a p.V755I change in the TLE1 gene, and two synonymous mutations (c.2943A > G in the BUB1 gene, and c.1254 T > A in C10orf68 gene). The de novo SCN2A splice site mutation produced a stop codon 10 amino acids downstream, possibly resulting in a truncated protein and/or a nonsense-mediated mRNA decay. The participant met new DSM-5 criteria for ASD, presenting with social and communication impairment, repetitive behaviors, and sensory reactivity issues. The participant's adaptive and cognitive skills fell in the low range of functioning.
Conclusion: This report indicates that a splice site mutation in SCN2A might be contributing to the risk of ASD. Describing the specific phenotype associated with SCN2A mutations might help to reduce heterogeneity seen in ASD.
C1 [Tavassoli, Teresa; Kolevzon, Alexander; Wang, A. Ting; Curchack-Lichtin, Jocelyn; Halpern, Danielle; Schwartz, Lily; Soffes, Sarah; Bush, Lauren; Grodberg, David; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
[Tavassoli, Teresa; Kolevzon, Alexander; Wang, A. Ting; Curchack-Lichtin, Jocelyn; Grodberg, David; Buxbaum, Joseph D.] Dept Psychiat, New York, NY USA.
[Cai, Guiqing; Buxbaum, Joseph D.] Dept Genet & Genom Sci, New York, NY USA.
[Cai, Guiqing; Buxbaum, Joseph D.] Dept Neurosci, New York, NY USA.
[Wang, A. Ting; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY USA.
[Wang, A. Ting; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY USA.
[Kolevzon, Alexander; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY USA.
RP Tavassoli, T (reprint author), Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
EM teresa.tavassoli@mssm.edu
FU Beatrice and Samuel A. Seaver Foundation; Wallace Research Foundation;
Seaver Foundation; Autism Science Foundation; NIH; Hofmann-LaRoche
FX This work was supported by grants from the Beatrice and Samuel A. Seaver
Foundation. TT received funding from the Wallace Research Foundation,
the Seaver Foundation and the Autism Science Foundation during the
period of this work. A. K. received research support from the NIH, the
Autism Science Foundation, the Seaver Foundation, and Hofmann-LaRoche.
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NR 37
TC 2
Z9 3
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2350
J9 BMC MED GENET
JI BMC Med. Genet.
PD MAR 20
PY 2014
VL 15
AR 35
DI 10.1186/1471-2350-15-35
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA AF2JO
UT WOS:000334538600001
PM 24650168
ER
PT J
AU Shaw, AD
Tiwari, Y
Kaplan, W
Heath, A
Mitchell, PB
Schofield, PR
Fullerton, JM
AF Shaw, Alex D.
Tiwari, Yash
Kaplan, Warren
Heath, Anna
Mitchell, Philip B.
Schofield, Peter R.
Fullerton, Janice M.
TI Characterisation of Genetic Variation in ST8SIA2 and Its Interaction
Region in NCAM1 in Patients with Bipolar Disorder
SO PLOS ONE
LA English
DT Article
ID CELL-ADHESION MOLECULE; DNA-SEQUENCING DATA; GENOME-WIDE SCAN;
POLYSIALIC-ACID; PSA-NCAM; HUMAN POLYSIALYLTRANSFERASE; SUSCEPTIBILITY
LOCUS; PREFRONTAL CORTEX; SCHIZOPHRENIA; EXPRESSION
AB Alpha-2,8-sialyltransferase 2 (ST8SIA2) is an enzyme responsible for the transfer of polysialic acid (PSA) to glycoproteins, principally the neuronal cell adhesion molecule (NCAM1), and is involved in neuronal plasticity. Variants within ST8SIA2 have previously shown association with bipolar disorder, schizophrenia and autism. In addition, altered PSA-NCAM expression in brains of patients with schizophrenia or bipolar disorder indicates a functional dysregulation of glycosylation in mental illness. To explore the role of sequence variation affecting PSA-NCAM formation, we conducted a targeted re-sequencing study of a similar to 100 kb region - including the entire ST8SIA2 gene and its region of interaction with NCAM1 - in 48 Caucasian cases with bipolar disorder using the Roche 454 platform. We identified over 400 DNA variants, including 47 putative novel variants not described in dbSNP. Validation of a subset of variants via Sequenom showed high reliability of Roche 454 genotype calls (97% genotype concordance, with 80% of novel variants independently verified). We did not observe major loss-of-function mutations that would affect PSA-NCAM formation, either by ablating ST8SIA2 function or by affecting the ability of NCAM1 to be glycosylated. However, we identified 13 SNPs in the UTRs of ST8SIA2, a synonymous coding SNP in exon 5 (rs2305561, P207P) and many additional non-coding variants that may influence splicing or regulation of ST8SIA2 expression. We calculated nucleotide diversity within ST8SIA2 on specific haplotypes, finding that the diversity on the specific "risk" and "protective" haplotypes was lower than other non-disease-associated haplotypes, suggesting that putative functional variation may have arisen on a spectrum of haplotypes. We have identified common and novel variants (rs11074064, rs722645, 15:92961050) that exist on a spectrum of haplotypes, yet are plausible candidates for conferring the effect of risk and protective haplotypes via multiple enhancer elements. A Galaxy workflow/pipeline for sequence analysis used herein is available at: https://main.g2.bx.psu.edu/u/a-shaw-neura/p/next-generation-resources.
C1 [Shaw, Alex D.; Tiwari, Yash; Heath, Anna; Schofield, Peter R.; Fullerton, Janice M.] Neurosci Res Australia, Sydney, NSW, Australia.
[Shaw, Alex D.; Tiwari, Yash; Schofield, Peter R.; Fullerton, Janice M.] Schizophrenia Res Inst, Sydney, NSW, Australia.
[Tiwari, Yash; Schofield, Peter R.; Fullerton, Janice M.] Univ New S Wales, Fac Med, Sch Med Sci, Sydney, NSW, Australia.
[Kaplan, Warren] Garvan Inst, Peter Wills Bioinformat Ctr, Sydney, NSW, Australia.
[Mitchell, Philip B.] Univ New S Wales, Sch Psychiat, Sydney, NSW, Australia.
[Mitchell, Philip B.] Black Dog Inst, Sydney, NSW, Australia.
RP Fullerton, JM (reprint author), Neurosci Res Australia, Sydney, NSW, Australia.
EM j.fullerton@neura.edu.au
FU Australian National Medical and Health Research Council [630574, 510135,
1037196]; Schizophrenia Research Institute; NSW Health; Australian
National Health and Medical Research Council [401184]; Cancer Institute
NSW [11/REG/1-10]; Australian Postgraduate Award
FX This work was supported by the Australian National Medical and Health
Research Council (project grant 630574, and program grants 510135 and
1037196) and by the Schizophrenia Research Institute, utilizing
infrastructure funding from NSW Health. Genetic Repositories Australia
is supported by an Australian National Health and Medical Research
Council (Grant # 401184). The authors used Garvan Galaxy, funded by a
Cancer Institute NSW grant (11/REG/1-10). Mr Yash Tiwari was supported
by an Australian Postgraduate Award. The funders had no role in study
design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 63
TC 2
Z9 2
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAR 20
PY 2014
VL 9
IS 3
AR e92556
DI 10.1371/journal.pone.0092556
PG 16
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AD6FV
UT WOS:000333352800128
PM 24651862
ER
PT J
AU Fernandez-Irigoyen, J
Zelaya, MV
Santamaria, E
AF Fernandez-Irigoyen, Joaquin
Zelaya, Maria V.
Santamaria, Enrique
TI Applying mass spectrometry-based qualitative proteomics to human
amygdaloid complex
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE brain; amygdala; proteomics; mass spectrometry; bioinformatics
ID CEREBROSPINAL-FLUID; RAT-BRAIN; QUADRUPOLE-TIME; 2-D DIGE; PROTEINS;
CHROMATOGRAPHY; TRANSCRIPTOME; EXPRESSION; MOLECULES; IDENTIFICATION
AB The amygdaloid complex is a key brain structure involved in the expression of behaviors and emotions such as learning, fear, and anxiety. Brain diseases including depression, epilepsy, autism, schizophrenia, and Alzheimer's disease, have been associated with amygdala dysfunction. For several decades, neuroanatomical, neurophysiological, volumetric, and cognitive approaches have been the gold standard techniques employed to characterize the amygdala functionality. However, little attention has been focused specifically on the molecular composition of the human amygdala from the perspective of proteomics. We have performed a global proteome analysis employing protein and peptide fractionation methods followed by nano-liquid chromatography tandem mass spectrometry (nanoLC-MS/MS), detecting expression of at least 1820 protein species in human amygdala, corresponding to 1814 proteins which represent a nine-fold increase in proteome coverage with respect to previous proteomic profiling of the rat amygdala. Gene ontology analysis were used to determine biological process represented in human amygdala highlighting molecule transport, nucleotide binding, and oxidoreductase and GTPase activities. Bioinformatic analyses have revealed that nearly 4% of identified proteins have been previously associated to neurodegenerative syndromes, and 26% of amygdaloid proteins were also found to be present in cerebrospinal fluid (CSF). In particular, a subset of amygdaloid proteins was mainly involved in axon guidance, synaptic vesicle release, L1CAM interactome, and signaling pathways transduced by NGF and NCAM1. Taken together, our data contributes to the repertoire of the human brain proteome, serving as a reference library to provide basic information for understanding the neurobiology of the human amygdala.
C1 [Fernandez-Irigoyen, Joaquin; Santamaria, Enrique] Fdn Miguel Servet, Navarrabiomed, Clin Neuroprote Grp, Prote Unit, Pamplona 31008, Spain.
[Zelaya, Maria V.] Fdn Miguel Servet, Navarrabiomed, Neurol Tissue Bank, Pamplona 31008, Spain.
RP Santamaria, E (reprint author), Fdn Miguel Servet, Navarrabiomed, Clin Neuroprote Grp, Prote Unit, Irunlarrea St, Pamplona 31008, Spain.
EM esantamma@navarra.es
FU Fundacion Miguel Servet (Government of Navarra); PRB2-ISCIII [PT13/0001]
FX We are very grateful to the tissue donors and their families. We thank
the Neurological Tissue Bank of Navarrabiomed for immunohistochemical
analysis of the brains and for providing us the amygdala specimens. We
are grateful to Teresa Tunon and Federico Garcia-Bragado from
Pathological Anatomy Department of Navarra Health Service for sharing
experiences on human brain processing. This work was supported by
Fundacion Miguel Servet (Government of Navarra). Navarrabiomed
Proteomics Unit belongs to Proteored, PRB2-ISCIII, supported by grant
PT13/0001 and is member of the Spanish Human Proteome Project (SpHPP)
(Chromosome 16 Consortium).
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NR 73
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD MAR 20
PY 2014
VL 8
AR 80
DI 10.3389/fncel.2014.00080
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AD2SM
UT WOS:000333085500001
PM 24688456
ER
PT J
AU Mishra, A
Traut, MH
Becker, L
Klopstock, T
Stein, V
Klein, R
AF Mishra, Archana
Traut, Matthias H.
Becker, Lore
Klopstock, Thomas
Stein, Valentin
Klein, Ruediger
TI Genetic Evidence for the Adhesion Protein IgSF9/Dasm1 to Regulate
Inhibitory Synapse Development Independent of its Intracellular Domain
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
ID CELL-ADHESION; DENDRITE ARBORIZATION; SEIZURE SUSCEPTIBILITY;
MATURATION-1 DASM1; IG SUPERFAMILY; FAMILY-MEMBER; NEUROLIGIN 2;
IN-VIVO; TURTLE; DIFFERENTIATION
AB Normal brain function requires balanced development of excitatory and inhibitory synapses. An imbalance in synaptic transmission underlies many brain disorders such as epilepsy, schizophrenia, and autism. Compared with excitatory synapses, relatively little is known about the molecular control of inhibitory synapse development. We used a genetic approach in mice to identify the Ig superfamily member IgSF9/Dasm1 as a candidate homophilic synaptic adhesion protein that regulates inhibitory synapse development. IgSF9 is expressed in pyramidal cells and subsets of interneurons in the CA1 region of hippocampus. Electrophysiological recordings of acute hippocampal slices revealed that genetic inactivation of the IgSF9 gene resulted in fewer functional inhibitory synapses; however, the strength of the remaining synapses was unaltered. These physiological abnormalities were correlated with decreased expression of inhibitory synapse markers in IgSF9(-/-) mice, providing anatomical evidence for a reduction in inhibitory synapse numbers, whereas excitatory synapse development was normal. Surprisingly, knock-in mice expressing a mutant isoform of IgSF9 lacking the entire cytoplasmic domain (IgSF9(Delta C/Delta C) mice) had no defects in inhibitory synapse development, providing genetic evidence that IgSF9 regulates synapse development via ectodomain interactions rather than acting itself as a signaling receptor. Further, we found that IgSF9 mediated homotypic binding and cell aggregation, but failed to induce synapse formation, suggesting that IgSF9 acts as a cell adhesion molecule (CAM) to maintain synapses. Juvenile IgSF9(-/-) mice exhibited increased seizure susceptibility indicative of an imbalance in synaptic excitation and inhibition. These results provide genetic evidence for a specific role of IgSF9 in inhibitory synapse development/maintenance, presumably by its CAM-like activity.
C1 [Mishra, Archana; Traut, Matthias H.; Klein, Ruediger] Max Planck Inst Neurobiol, Dept Mol Signaling Dev, D-82152 Martinsried, Germany.
[Traut, Matthias H.; Stein, Valentin] Max Planck Inst Neurobiol, Synapt Receptor Trafficking Grp, D-82152 Martinsried, Germany.
[Becker, Lore; Klopstock, Thomas] German Res Ctr Environm & Hlth, Helmholtz Zentrum Munchen, Inst Expt Genet, German Mouse Clin, D-85764 Neuherberg, Germany.
[Becker, Lore; Klopstock, Thomas] Univ Munich, Friedrich Baur Inst, Dept Neurol, D-80336 Munich, Germany.
[Klopstock, Thomas; Klein, Ruediger] Munich Cluster Syst Neurol SyNergy, D-80336 Munich, Germany.
[Stein, Valentin] Univ Bonn, Dept Physiol 2, D-53115 Bonn, Germany.
RP Klein, R (reprint author), Max Planck Inst Neurobiol, Dept Mol Signaling Dev, D-82152 Martinsried, Germany.
EM valentin.stein@ukb.uni-bonn.de; rklein@neuro.mpg.de
RI Klein, Ruediger/C-6147-2008; Becker, Lore/E-3717-2010
OI Klein, Ruediger/0000-0002-3109-0163;
FU Max-Planck Society; German Federal Ministry of Education and Research
[01GS0850, 01E00901, 01KX1012]; European Union (EUMODIC)
FX This work was supported by the Max-Planck Society. L.B. and T.K.
received funding from the German Federal Ministry of Education and
Research (Grants 01GS0850, 01E00901, and 01KX1012) and the European
Union (EUMODIC). We thank Marianne Braun for technical assistance with
electron microscopy and Gonul Seyit-Bremer for generating Igsf9/9b
antibodies and recombinant proteins.
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NR 40
TC 1
Z9 1
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD MAR 19
PY 2014
VL 34
IS 12
BP 4187
EP 4199
DI 10.1523/JNEUROSCI.3671-13.2014
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AD4WX
UT WOS:000333253300008
PM 24647940
ER
PT J
AU Han, S
Tai, C
Jones, CJ
Scheuer, T
Catterall, WA
AF Han, Sung
Tai, Chao
Jones, Christina J.
Scheuer, Todd
Catterall, William A.
TI Enhancement of Inhibitory Neurotransmission by GABA(A) Receptors Having
alpha(2,3)-Subunits Ameliorates Behavioral Deficits in a Mouse Model of
Autism
SO NEURON
LA English
DT Article
ID MICE; BENZODIAZEPINES; DYSFUNCTION; WITHDRAWAL; TOLERANCE; GENETICS;
SUBTYPES; EXCITATION/INHIBITION; NEUROBIOLOGY; PHARMACOLOGY
AB Autism spectrum disorder (ASD) may arise from increased ratio of excitatory to inhibitory neurotransmission in the brain. Many pharmacological treatments have been tested in ASD, but only limited success has been achieved. Here we report that BTBR T+ Itpr3(tf)/J (BTBR) mice, a model of idiopathic autism, have reduced spontaneous GABAergic neurotransmission. Treatment with low nonsedating/nonanxiolytic doses of benzodiazepines, which increase inhibitory neurotransmission through positive allosteric modulation of postsynaptic GABA(A) receptors, improved deficits in social interaction, repetitive behavior, and spatial learning. Moreover, negative allosteric modulation of GABA(A) receptors impaired social behavior in C57BL/6J and 129SvJ wild-type mice, suggesting that reduced inhibitory neurotransmission may contribute to social and cognitive deficits. The dramatic behavioral improvement after low-dose benzodiazepine treatment was subunit specific-the alpha(2,3)-subunit-selective positive allosteric modulator L-838,417 was effective, but the alpha(1)-subunit-selective drug zolpidem exacerbated social deficits. Impaired GABAergic neurotransmission may contribute to ASD, and alpha(2,3)-subunit-selective positive GABA(A) receptor modulation may be an effective treatment.
C1 [Han, Sung; Tai, Chao; Jones, Christina J.; Scheuer, Todd; Catterall, William A.] Univ Washington, Dept Pharmacol, Seattle, WA 98195 USA.
RP Catterall, WA (reprint author), Univ Washington, Dept Pharmacol, Seattle, WA 98195 USA.
EM wcatt@u.washington.edu
FU Simons Foundation; National Institute of Child Health and Human
Development [P30HD02274]; National Institute of Neurological Disorders
and Stroke of the National Institutes of Health [R01NS25704]
FX Research reported in this publication was supported by the Simons
Foundation, the National Institute of Child Health and Human Development
under award number P30HD02274, and the National Institute of
Neurological Disorders and Stroke of the National Institutes of Health
under award number R01NS25704. The content is solely the responsibility
of the authors and does not necessarily represent the official views of
the National Institutes of Health.
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NR 39
TC 13
Z9 13
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
EI 1097-4199
J9 NEURON
JI Neuron
PD MAR 19
PY 2014
VL 81
IS 6
BP 1282
EP 1289
DI 10.1016/j.neuron.2014.01.016
PG 8
WC Neurosciences
SC Neurosciences & Neurology
GA AD5XH
UT WOS:000333326000009
PM 24656250
ER
PT J
AU Kealey, C
AF Kealey, Chantal
TI Autism spectrum disorder: importance of audiology
SO CANADIAN MEDICAL ASSOCIATION JOURNAL
LA English
DT Letter
C1 Canadian Assoc Speech Language Pathologists & Aud, Ottawa, ON, Canada.
RP Kealey, C (reprint author), Canadian Assoc Speech Language Pathologists & Aud, Ottawa, ON, Canada.
CR Anagnostou E, 2014, CMAJ
NR 1
TC 0
Z9 0
PU CMA-CANADIAN MEDICAL ASSOC
PI OTTAWA
PA 1867 ALTA VISTA DR, OTTAWA, ONTARIO K1G 5W8, CANADA
SN 0820-3946
EI 1488-2329
J9 CAN MED ASSOC J
JI Can. Med. Assoc. J.
PD MAR 18
PY 2014
VL 186
IS 5
BP 372
EP 372
DI 10.1503/cmaj.114-0020
PG 1
WC Medicine, General & Internal
SC General & Internal Medicine
GA AJ8LB
UT WOS:000337954300024
PM 24639326
ER
PT J
AU Kohl, S
Wolters, C
Gruendler, TOJ
Vogeley, K
Klosterkotter, J
Kuhn, J
AF Kohl, Sina
Wolters, Carolin
Gruendler, Theo O. J.
Vogeley, Kai
Klosterkoetter, Joachim
Kuhn, Jens
TI Prepulse Inhibition of the Acoustic Startle Reflex in High Functioning
Autism
SO PLOS ONE
LA English
DT Article
ID NORMAL SEX-DIFFERENCES; SPECTRUM DISORDERS; ASPERGERS-SYNDROME;
CHILDREN; ABNORMALITIES; ADULTS; QUOTIENT; HYPERSENSITIVITY; CHILDHOOD;
ATTENTION
AB Background: High functioning autism is an autism spectrum disorder that is characterized by deficits in social interaction and communication as well as repetitive and restrictive behavior while intelligence and general cognitive functioning are preserved. According to the weak central coherence account, individuals with autism tend to process information detail-focused at the expense of global form. This processing bias might be reflected by deficits in sensorimotor gating, a mechanism that prevents overstimulation during the transformation of sensory input into motor action. Prepulse inhibition is an operational measure of sensorimotor gating, which indicates an extensive attenuation of the startle reflex that occurs when a startling pulse is preceded by a weaker stimulus, the prepulse.
Methods: In the present study, prepulse inhibition of acoustic startle was compared between 17 adults with high functioning autism and 17 sex-, age-, and intelligence-matched controls by means of electromyography.
Results: Results indicate that participants with high functioning autism exhibited significantly higher startle amplitudes than the control group. However, groups did not differ with regard to PPI or habituation of startle.
Discussion: These findings challenge the results of two previous studies that reported prepulse inhibition deficits in high-functioning autism and suggest that sensorimotor gating is only impaired in certain subgroups with autism spectrum disorder.
C1 [Kohl, Sina; Wolters, Carolin; Gruendler, Theo O. J.; Vogeley, Kai; Klosterkoetter, Joachim; Kuhn, Jens] Univ Hosp Cologne, Dept Psychiat & Psychotherapy, Cologne, North Rhine Wes, Germany.
[Gruendler, Theo O. J.] Univ Magdeburg, Dept Econ, D-39106 Magdeburg, Saxony Anhalt, Germany.
[Gruendler, Theo O. J.] Ctr Behav Brain Sci, Magdeburg, Saxony Anhalt, Germany.
[Vogeley, Kai] Res Ctr Juelich, Inst Neurosci & Med Cognit Neurosci INM3, Julich, North Rhine Wes, Germany.
RP Kuhn, J (reprint author), Univ Hosp Cologne, Dept Psychiat & Psychotherapy, Cologne, North Rhine Wes, Germany.
EM jens.kuhn@uk-koeln.de
FU Walter and Marga Boll Foundation; German Research Foundation [KFO-219];
Center for Behavioral Brain Sciences
FX The authors thank the Walter and Marga Boll Foundation, the German
Research Foundation (KFO-219 grant), as well as the Center for
Behavioral Brain Sciences for financial support. The funders had no role
in study design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 49
TC 1
Z9 2
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAR 18
PY 2014
VL 9
IS 3
AR e92372
DI 10.1371/journal.pone.0092372
PG 8
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AD4ZE
UT WOS:000333259900128
PM 24643088
ER
PT J
AU Hajjo, R
Tropsha, A
AF Hajjo, Rima
Tropsha, Alexander
TI Chemocentric informatics analysis of "omics" data identifies novel
chemical-gene-disease associations in autism
SO ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY
LA English
DT Meeting Abstract
CT 247th National Spring Meeting of the American-Chemical-Society (ACS)
CY MAR 16-20, 2014
CL Dallas, TX
SP Amer Chem Soc
C1 [Hajjo, Rima; Tropsha, Alexander] Univ N Carolina, Dept Chem Biol & Med Chem, Chapel Hill, NC 27955 USA.
EM rhajjo@gmail.com
NR 0
TC 0
Z9 0
PU AMER CHEMICAL SOC
PI WASHINGTON
PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA
SN 0065-7727
J9 ABSTR PAP AM CHEM S
JI Abstr. Pap. Am. Chem. Soc.
PD MAR 16
PY 2014
VL 247
MA 267-COMP
PG 1
WC Chemistry, Multidisciplinary
SC Chemistry
GA AZ8HD
UT WOS:000348455204818
ER
PT J
AU Lewis, KP
Pirrone, GF
Charlebois, AF
AF Lewis, Katelyn P.
Pirrone, Gregory F.
Charlebois, Amber Flynn
TI Synthesis of stercobilin: A potenitial biomarker for autism
SO ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY
LA English
DT Meeting Abstract
CT 247th National Spring Meeting of the American-Chemical-Society (ACS)
CY MAR 16-20, 2014
CL Dallas, TX
SP Amer Chem Soc
C1 [Lewis, Katelyn P.; Pirrone, Gregory F.; Charlebois, Amber Flynn] Fairleigh Dickinson Univ Coll Florham, Dept Chem & Pharmaceut Sci, Madison, NJ 07940 USA.
EM KLew@student.fdu.edu
NR 0
TC 0
Z9 0
PU AMER CHEMICAL SOC
PI WASHINGTON
PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA
SN 0065-7727
J9 ABSTR PAP AM CHEM S
JI Abstr. Pap. Am. Chem. Soc.
PD MAR 16
PY 2014
VL 247
MA 1106-CHED
PG 1
WC Chemistry, Multidisciplinary
SC Chemistry
GA AZ8HD
UT WOS:000348455203092
ER
PT J
AU Verfaillie, K
Huysegems, S
De Graef, P
Van Belle, G
AF Verfaillie, K.
Huysegems, S.
De Graef, P.
Van Belle, G.
TI Impaired holistic and analytic face processing in congenital
prosopagnosia: Evidence from the eye-contingent mask/window paradigm
SO VISUAL COGNITION
LA English
DT Article
DE Holistic perception; Prosopagnosia; Face processing
ID DEFICIT HYPERACTIVITY DISORDER; DEVELOPMENTAL PROSOPAGNOSIA; ACQUIRED
PROSOPAGNOSIA; DETAILED EXPLORATION; FUNCTIONING AUTISM;
GAZE-CONTINGENCY; NEURAL BASES; PERCEPTION; RECOGNITION; INVERSION
AB There is abundant evidence that face recognition, in comparison to the recognition of other objects, is based on holistic processing rather than analytic processing. One line of research that provides evidence for this hypothesis is based on the study of people who experience pronounced difficulties in visually identifying conspecifics on the basis of their face. Earlier, we developed a behavioural paradigm to directly test analytic vs. holistic face processing. In comparison to a to be remembered reference face stimulus, one of two test stimuli was either presented in full view, with an eye-contingently moving window (only showing the fixated face feature, and therefore only affording analytic processing), or with an eye-contingently moving mask or scotoma (masking the fixated face feature, but still allowing holistic processing). In the present study we use this paradigm (that we used earlier in acquired prosopagnosia) to study face perception in congenital prosopagnosia (people having difficulties recognizing faces from birth on, without demonstrable brain damage). We observe both holistic and analytic face processing deficits in people with congenital prosopagnosia. Implications for a better understanding, both of congenital prosopagnosia and of normal face perception, are discussed.
C1 [Verfaillie, K.; Huysegems, S.; De Graef, P.; Van Belle, G.] Katholieke Univ Leuven, Expt Psychol Lab, B-3000 Leuven, Belgium.
[De Graef, P.] Katholieke Univ Leuven, Antwerp, Belgium.
[Van Belle, G.] Catholic Univ Louvain, Psychol Sci Res Unit, B-1348 Louvain, Belgium.
[Van Belle, G.] Inst Neurosci, Louvain, Belgium.
RP Verfaillie, K (reprint author), Katholieke Univ Leuven, Expt Psychol Lab, Tiensestr 102, B-3000 Leuven, Belgium.
EM Karl.Verfaillie@psy.kuleuven.be
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NR 86
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1350-6285
EI 1464-0716
J9 VIS COGN
JI Vis. Cogn.
PD MAR 16
PY 2014
VL 22
IS 3-4
SI SI
BP 503
EP 521
DI 10.1080/13506285.2014.881446
PG 19
WC Psychology, Experimental
SC Psychology
GA AE6AH
UT WOS:000334070000014
ER
PT J
AU Alvaro-Gonzalez, LC
AF Alvaro-Gonzalez, Luis C.
TI Neuroethics (II): moral pathways in disordered brain
SO REVISTA DE NEUROLOGIA
LA Spanish
DT Article
DE Autism; Frontotemporal dementias; Neuroethics; Parkinson's disease;
Psychopathies; Sociopathies
ID PARKINSONS-DISEASE; ORBITOFRONTAL CORTEX; DOPAMINE AGONISTS; RESPONSE
REVERSAL; REWARD; COGNITION; EMOTION; PSYCHOPATHY; AGGRESSION;
MECHANISMS
AB Introduction. Morality is made out of rules and values that guide human behavior. They barely change among different cultures and result in top social accomplishments. Specific moral pathways are available for this purpose in the brain. Their lesion or dysfunction will produce changes or alterations in moral behavior.
Aim. To describe the process and mechanisms of moral dysfunctions under different lesions and neurological disorders.
Development. Moral pathologies are the result of either different structural lesions (destructive of the prefrontal cortex; microscopic involvement of the amygdala/prefrontal cortex in psychopathies), or neurochemical involvement (dopaminergic hyperfunction in Parkinson patients under certain treatments, or in some drug-dependences) or genetic alterations (point mutations of COMT or MAO enzymes in certain psychopathies). This activity is due to excitatory, inhibitory or mixed mechanisms. They operate at different levels of the moral circuits, as much emotional (temporal lobe) as cognitive ones (prefrontal lobe). The underlying topography and operating mechanisms can explain the different clinical expressivity.
Conclusions. The knowledge of the disordered moral behaviors improves the background of information about the moral circuits that operate in healthy control groups, in anatomical and also in physiological terms. By this means, ethical variations among different cultures might be elucidated. This contribution is also paramount for the huge current progress of neuroethics, which is highly complex and influenced by distinct areas of the neuroculture.
C1 [Alvaro-Gonzalez, Luis C.] Hosp Univ Basurto, Serv Neurol, E-48013 Bilbao, Vizcaya, Spain.
[Alvaro-Gonzalez, Luis C.] Hosp Univ Basurto, Com Bioet Asistencial, E-48013 Bilbao, Vizcaya, Spain.
[Alvaro-Gonzalez, Luis C.] Univ Basque Country, Dept Neurociencias, Bilbao, Vizcaya, Spain.
RP Alvaro-Gonzalez, LC (reprint author), Hosp Univ Basurto, Serv Neurol, Avda Montevideo 18, E-48013 Bilbao, Vizcaya, Spain.
EM luiscarlosalvaro@yahoo.es
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NR 59
TC 2
Z9 2
PU REVISTA DE NEUROLOGIA
PI BARCELONA
PA C/O CESAR VIGUERA, EDITOR, APDO 94121, 08080 BARCELONA, SPAIN
SN 0210-0010
EI 1576-6578
J9 REV NEUROLOGIA
JI Rev. Neurologia
PD MAR 16
PY 2014
VL 58
IS 6
BP 268
EP 276
PG 9
WC Clinical Neurology
SC Neurosciences & Neurology
GA AD4YR
UT WOS:000333258500005
PM 24610694
ER
PT J
AU Teixeira, S
Machado, S
Velasques, B
Sanfim, A
Minc, D
Peressutti, C
Bittencourt, J
Budde, H
Cagy, M
Anghinah, R
Basile, LF
Piedade, R
Ribeiro, P
Diniz, C
Cartier, C
Gongora, M
Silva, F
Manaia, F
Silva, JG
AF Teixeira, Silmar
Machado, Sergio
Velasques, Bruna
Sanfim, Antonio
Minc, Daniel
Peressutti, Caroline
Bittencourt, Juliana
Budde, Henning
Cagy, Mauricio
Anghinah, Renato
Basile, Luis F.
Piedade, Roberto
Ribeiro, Pedro
Diniz, Claudia
Cartier, Consuelo
Gongora, Mariana
Silva, Farmy
Manaia, Femanda
Silva, Julio Guilherme
TI Integrative parietal cortex processes: Neurological and psychiatric
aspects
SO JOURNAL OF THE NEUROLOGICAL SCIENCES
LA English
DT Review
DE Parietal cortex; Sensorimotor integration; Hand movement control;
Neurological and psychiatric aspects; Neuroanatomy; Movement observation
ID SACCADIC EYE-MOVEMENTS; TRANSCRANIAL MAGNETIC STIMULATION;
PARKINSONS-DISEASE; SOMATOSENSORY CORTEX; OPTIC ATAXIA; BIPOLAR
DISORDER; VISUAL-ATTENTION; MACAQUE MONKEY; DIFFERENTIAL ACTIVATION;
PARIETOOCCIPITAL CORTEX
AB For many decades the parietal cortex (PC) has been considered the key area in tasks which involve the integration of different stimuli. PC is fundamental to determine spatial sense, information navigation and integration, and is involved in several aspects of the complex motor repertoire and in neurological and psychiatric disorders. In this review, we focus on seven different aspects of PC: (i) neuroanatomy of the parietal cortex; (ii) sensory motor integration processes; iii) hand movement control: reaching, grasping, and pointing; (iv) saccadic eye movements; (v) movement observation; (vi) neurological aspects: ataxia, autism and Parkinson's disease; and (vii) psychiatric aspects: schizophrenia, bipolar disorder and depression. Among these, we related the perspectives which involve the functions of the parietal cortex and mirror neurons and that seem to play a fundamental role in action prediction, planning, observation and execution. Furthermore, we focused on the relationship between posterior parietal cortex (PPC) and hand-guided movements. For this review, we conducted an academic paper search which fulfilled the objective of the study. We conclude that the PC has great participation in different motor functions and neurological/psychiatric disorders. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Teixeira, Silmar; Machado, Sergio; Velasques, Bruna; Sanfim, Antonio; Minc, Daniel; Peressutti, Caroline; Bittencourt, Juliana; Piedade, Roberto; Ribeiro, Pedro; Diniz, Claudia; Cartier, Consuelo; Gongora, Mariana; Silva, Farmy; Manaia, Femanda; Silva, Julio Guilherme] Fed Univ Rio de Janeiro IPUB UFRJ, Inst Psychiat, Rio De Janeiro, Brazil.
[Ribeiro, Pedro; Gongora, Mariana] Biosci Dept EEFD UFRJ, Sch Phys Educ, Rio De Janeiro, Brazil.
[Cagy, Mauricio] Fed Fluminense Univ UFF, Inst Hlth Community, Div Epidemiol & Biostat, Rio De Janeiro, Brazil.
[Anghinah, Renato; Basile, Luis F.] Univ Sao Paulo Med Sch, Div Neurosurg, Sao Paulo, Brazil.
[Basile, Luis F.] Univ Metodista Sao Paulo, Lab Psychophysiol Psychol & Speech Therapy, Sao Bernardo Do Campo, SP, Brazil.
[Velasques, Bruna; Peressutti, Caroline; Ribeiro, Pedro] Inst Appl Neurosci INA, Rio De Janeiro, Brazil.
[Budde, Henning] Humboldt Univ, Inst Sport Sci, Dept Movement & Training Sci, Berlin, Germany.
[Machado, Sergio; Velasques, Bruna; Sanfim, Antonio; Minc, Daniel; Ribeiro, Pedro] Fed Univ Rio de Janeiro IPUB UFRJ, Lab Neurophysiol & Neuropsychol Attent, Rio De Janeiro, Brazil.
[Teixeira, Silmar] Univ Veiga de Almeida, Rio De Janeiro, Brazil.
RP Teixeira, S (reprint author), Rua Condessa Pereira Cameiro 36-103, Rio De Janeiro, RJ, Brazil.
EM silmar_teixeira@yahoo.com.br
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NR 164
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0022-510X
EI 1878-5883
J9 J NEUROL SCI
JI J. Neurol. Sci.
PD MAR 15
PY 2014
VL 338
IS 1-2
BP 12
EP 22
DI 10.1016/j.jns.2013.12.025
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AE3NO
UT WOS:000333883400003
PM 24398346
ER
PT J
AU Foley, AG
Cassidy, AW
Regan, CM
AF Foley, Andrew G.
Cassidy, Andrew W.
Regan, Ciaran M.
TI Penty1-4-yn-VPA, a histone deacetylase inhibitor, ameliorates deficits
in social behavior and cognition in a rodent model of autism spectrum
disorders
SO EUROPEAN JOURNAL OF PHARMACOLOGY
LA English
DT Article
DE Social cognition; SAHA; VPA; H3K9ac
ID VALPROIC ACID; DEVELOPMENTAL ANOMALIES; MOTION PERCEPTION; MEMORY
FORMATION; IN-VITRO; ACETYLATION; RATS; ANTICONVULSANT; TERATOGENICITY;
CONSOLIDATION
AB In utero exposure of rodents to valproic acid (VPA) has been proposed to induce an adult phenotype with behavioural characteristics reminiscent of those observed in autism spectrum disorder (ASD). Our previous studies have demonstrated the social cognition deficits observed in this model, a major core symptom of ASD, to be ameliorated following chronic administration of histone deacetylase (HDAC) inhibitors. Using this model, we now demonstrate pentyl-4-yn-VPA, an analogue of valproate and HDAC inhibitor, to significantly ameliorate deficits in social cognition as measured using the social approach avoidance paradigm as an indicator of social reciprocity and spatial teaming to interrogate dorsal stream cognitive processing. The effects obtained with penty1-4-yn-VPA were found to be similar to those obtained with SAHA, a pan-specific HDAC inhibitor. Histones isolated from the cerebellar cortex and immunoblottecl with antibodies recognising lysine-specific modification revealed SAHA and pentyl-4-yn-VPA to enhance the acetylation status of H4K8. Additionally, the action of penty1-4-yn-VPA, could be differentiated from that of SAHA by its ability to decrease H3K9 acetylation and enhance H3K14 acetylation. The histone modifications mediated by penty1-4-yn-VPA are suggested to act cooperatively through differential acetylation of the promoter and transcription regions of active genes. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Foley, Andrew G.; Cassidy, Andrew W.] Univ Coll Dublin, NovaUCD, Berand Neuropharmacol, Dublin 4, Ireland.
[Regan, Ciaran M.] Univ Coll Dublin, UCD Conway Inst, Sch Biomol & Biomed Sci, Dublin 4, Ireland.
RP Regan, CM (reprint author), Univ Coll Dublin, UCD Conway Inst, Sch Biomol & Biomed Sci, Dublin 4, Ireland.
EM ciaran.regan@ucd.ie
FU Berand Neuropharmacology
FX Berand Neuropharmacology provided financial support for the conduct of
the research and in the preparation of the article.
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Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0014-2999
EI 1879-0712
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BP 80
EP 86
DI 10.1016/j.ejphar.2014.01.050
PG 7
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SC Pharmacology & Pharmacy
GA AC8EY
UT WOS:000332767500011
PM 24486700
ER
PT J
AU Zhu, L
Wang, XM
Li, XL
Towers, A
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TI Epigenetic dysregulation of SHANK3 in brain tissues from individuals
with autism spectrum disorders
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID SCAFFOLDING PROTEIN SHANK3; 22Q13 DELETION SYNDROME; DNA METHYLATION;
MOLECULAR CHARACTERIZATION; PRENATAL NUTRITION; CPG ISLANDS; MICE;
DUPLICATION; MUTATIONS; SCHIZOPHRENIA
AB The molecular basis for the majority of cases of autism spectrum disorders (ASD) remains unknown. We tested the hypothesis that ASD have an epigenetic cause by performing DNA methylation profiling of five CpG islands (CGI-1 to CGI-5) in the SHANK3 gene in postmortem brain tissues from 54 ASD patients and 43 controls. We found significantly increased overall DNA methylation (epimutation) in three intragenic CGIs (CGI-2, CGI-3 and CGI-4). The increased methylation was clustered in the CGI-2 and CGI-4 in similar to 15% of ASD brain tissues. SHANK3 has an extensive array of mRNA splice variants resulting from combinations of five intragenic promoters and alternative splicing of coding exons. Altered expression and alternative splicing of SHANK3 isoforms were observed in brain tissues with increased methylation of SHANK3 CGIs in ASD brain tissues. A DNA methylation inhibitor modified the methylation of CGIs and altered the isoform-specific expression of SHANK3 in cultured cells. This study is the first to find altered methylation patterns in SHANK3 in ASD brain samples. Our finding provides evidence to support an alternative approach to investigating the molecular basis of ASD. The ability to alter the epigenetic modification and expression of SHANK3 by environmental factors suggests that SHANK3 may be a valuable biomarker for dissecting the role of gene and environment interaction in the etiology of ASD.
C1 [Zhu, Li; Wang, Xiaoming; Li, Xin-Lei; Cao, Xinyu; Wang, Ping; Bowman, Rachel; Goldstein, Jennifer; Jiang, Yong-Hui] Duke Univ, Sch Med, Dept Pediat, Durham, NC 27710 USA.
[Jiang, Yong-Hui] Duke Univ, Sch Med, Dept Neurobiol, Durham, NC 27710 USA.
[Towers, Aaron; Jiang, Yong-Hui] Duke Univ, Sch Med, Program Genet & Genom, Durham, NC 27710 USA.
[Jiang, Yong-Hui] Duke Univ, Sch Med, Program Cell & Mol Biol, Durham, NC 27710 USA.
[Jiang, Yong-Hui] Duke Univ, Sch Med, Duke Inst Brain Sci, Durham, NC 27710 USA.
[Yang, Hyuna; Li, Yi-Ju] Duke Univ, Sch Med, Dept Biostat & Bioinformat, Durham, NC 27710 USA.
RP Jiang, YH (reprint author), Duke Univ, Sch Med, Div Med Genet, Dept Pediat & Neurobiol, Durham, NC 27710 USA.
EM yong-hui.jiang@duke.edu
RI wang, xiaoming/I-2158-2013
OI wang, xiaoming/0000-0002-7763-690X
FU Autism Speaks grant; National Institute of Health [R01MH098114-01];
Phelan-McDermid syndrome foundation
FX We thank Yoonji Lee, Xiaodong Zhai, Zhiqing Huang and Richard Person for
technical assistance. We also thank Catherine Rehder for assisting CNV
analysis. We would like to acknowledge the Autism Tissue Program,
Harvard Brain Tissue Bank and NICHD Brain Tissue Bank for providing the
brain tissues for this study. We also thank Jane Picket from the Autism
Tissue Program and Robert Johnson from NICHD brain tissue bank for their
assistance. We thank David Goldstein, Jan Bressler and Susan Murphy for
critical reading of the manuscript. Y.H.J. is supported by an Autism
Speaks grant and National Institute of Health grant R01MH098114-01. X.
W. is supported by Phelan-McDermid syndrome foundation.
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NR 69
TC 8
Z9 10
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD MAR 15
PY 2014
VL 23
IS 6
BP 1563
EP 1578
DI 10.1093/hmg/ddt547
PG 16
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AB8MK
UT WOS:000332044300014
PM 24186872
ER
PT J
AU Brodkin, J
Frank, D
Grippo, R
Hausfater, M
Gulinello, M
Achterholt, N
Gutzen, C
AF Brodkin, Jesse
Frank, Dana
Grippo, Ryan
Hausfater, Michal
Gulinello, Maria
Achterholt, Nils
Gutzen, Christian
TI Validation and implementation of a novel high-throughput behavioral
phenotyping instrument for mice
SO JOURNAL OF NEUROSCIENCE METHODS
LA English
DT Article
DE Automated detection; Neurobehavioral assessment; Behavioral screening;
Ethological analysis; Grooming; Video analysis
ID T PLUS TF/J; INFLAMMATORY PAIN; MOUSE MODEL; AUTISM; CLASSIFICATION;
C57BL/6J; RODENTS; STRESS; DRUGS
AB Background: Behavioral assessment of mutant mouse models and novel candidate drugs is a slow and labor intensive process. This limitation produces a significant impediment to CNS drug discovery.
New method: By combining video and vibration analysis we created an automated system that provides the most detailed description of mouse behavior available. Our system (The Behavioral Spectrometer) allowed for the rapid assessment of behavioral abnormalities in the BTBR model of Autism, the restraint model of stress and the irritant model of inflammatory pain.
Results: We found that each model produced a unique alteration of the spectrum of behavior emitted by the mice. BTBR mice engaged in more grooming and less rearing behaviors. Prior restraint stress produced dramatic increases in grooming activity at the expense of locomotor behavior. Pain produced profound decreases in emitted behavior that were reversible with analgesic treatment.
Comparison with existing method(s): We evaluated our system through a direct comparison on the same subjects with the current "gold standard" of human observation of video recordings. Using the same mice evaluated over the same range of behaviors, the Behavioral Spectrometer produced a quantitative categorization of behavior that was highly correlated with the scores produced by trained human observers (r = 0.97).
Conclusions: Our results show that this new system is a highly valid and sensitive method to characterize behavioral effects in mice. As a fully automated and easily scalable instrument the Behavioral Spectrometer represents a high-throughput behavioral tool that reduces the time and labor involved in behavioral research. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Brodkin, Jesse; Frank, Dana] Behav Instruments, Hillsborough, NJ 08844 USA.
[Grippo, Ryan; Hausfater, Michal] Rutgers State Univ, Dept Psychol, Piscataway, NJ 08854 USA.
[Gulinello, Maria] Yeshiva Univ, Albert Einstein Coll Med, Rose F Kennedy Ctr, Dominick P Putpura Dept Neurosci,Behav Core Facil, Bronx, NY 10461 USA.
[Achterholt, Nils; Gutzen, Christian] BIOBSERVE GmbH, D-53757 St Augustin, Germany.
RP Brodkin, J (reprint author), Behav Instruments, 5 Jill Court Unit 1, Hillsborough, NJ 08844 USA.
EM Brodkin@behavioralinstruments.com; christian.gutzen@biobserve.com
RI Gulinello, Maria/A-4444-2015
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NR 29
TC 4
Z9 4
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0270
EI 1872-678X
J9 J NEUROSCI METH
JI J. Neurosci. Methods
PD MAR 15
PY 2014
VL 224
BP 48
EP 57
DI 10.1016/j.jneumeth.2013.12.010
PG 10
WC Biochemical Research Methods; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AB5TB
UT WOS:000331850500005
PM 24384067
ER
PT J
AU Varlinskaya, EI
Mooney, SM
AF Varlinskaya, Elena I.
Mooney, Sandra M.
TI Acute exposure to ethanol on gestational day 15 affects social
motivation of female offspring
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Adolescence; Autism; Fetal alcohol syndrome; Sex difference
ID REPEATED RESTRAINT; ADULT RATS; BEHAVIOR; ADOLESCENT; PUBERTY; ANXIETY;
CONSEQUENCES; ALCOHOL; BRAIN; PLAY
AB Alterations in social behavior are a hallmark of many neurodevelopmental disorders in humans. In rodents, social behavior is affected by prenatal insults. The outcomes are dependent on the timing of the insult as well as the sex and age of the animal tested. The limbic system is particularly important for social behavior, and a peak of neurogenesis within this system occurs on gestational day (G)15. Neurons appear particularly vulnerable to ethanol insult around the time they become post-mitotic. We tested the hypothesis that acute exposure to ethanol on G15 would result in significant social behavior deficits. Accordingly, Long Evans pregnant females were injected with ethanol (2.9 g/kg) or an equivalent volume of saline on G15. Offspring were assessed in a modified social interaction test on postnatal day (P) 28, P42, or P75, i.e., during early adolescence, late adolescence, or young adulthood. Prenatal ethanol exposure decreased social investigation in P28 females and transformed social preference into social avoidance in 75-day-old females. Contact behavior, play fighting, and locomotor activity differed as a function of age, but were not significantly affected by ethanol exposure. Males demonstrated significantly more contact behavior and play fighting at P42 than at P28 or P70, whereas there were no age-related changes in females. Adult females showed more locomotor activity than adult males. Overall, prenatal ethanol exposure on G15 enhanced social anxiety in females, with these effects seen in adulthood only. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Varlinskaya, Elena I.] SUNY Binghamton, Dept Psychol, Ctr Dev & Behav Neurosci, Binghamton, NY 13902 USA.
[Varlinskaya, Elena I.; Mooney, Sandra M.] Dev Exposure Alcohol Res Ctr, Baltimore, MD 21201 USA.
[Varlinskaya, Elena I.; Mooney, Sandra M.] Dev Exposure Alcohol Res Ctr, Binghamton, NY 13902 USA.
[Varlinskaya, Elena I.; Mooney, Sandra M.] Dev Exposure Alcohol Res Ctr, Cortland, NY 13054 USA.
[Varlinskaya, Elena I.; Mooney, Sandra M.] Dev Exposure Alcohol Res Ctr, Syracuse, NY 13210 USA.
[Mooney, Sandra M.] Univ Maryland, Dept Pediat, Baltimore, MD 21201 USA.
[Mooney, Sandra M.] SUNY Upstate Med Univ, Dept Neurosci & Physiol, Syracuse, NY 13210 USA.
RP Mooney, SM (reprint author), Univ Maryland, Dept Pediat, Baltimore, MD 21201 USA.
EM varlinsk@binghamton.edu; smooney@peds.umaryland.edu
FU National Institute of Alcohol Abuse and Alcoholism [AA018693, AA0178231,
AA012453]; Autism Speaks
FX The authors thank Renee Mezza, Wendi Burnette, Terri Novak, and Bill
Bondi for technical assistance. This research was supported by the
National Institute of Alcohol Abuse and Alcoholism (AA018693 and
AA0178231 to SMM; AA012453 to EIV) and Autism Speaks (SMM). None of the
funding sources had any role in study design, data collection, analysis
or interpretation, in the writing of the report; or in the decision to
submit the article for publication. The authors have no conflicts of
interest to disclose.
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NR 24
TC 4
Z9 4
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD MAR 15
PY 2014
VL 261
BP 106
EP 109
DI 10.1016/j.bbr.2013.12.016
PG 4
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AB0QK
UT WOS:000331497000015
PM 24355753
ER
PT J
AU de Theije, CGM
Wu, JB
Koelink, PJ
Korte-Bouws, GAH
Borre, Y
Kas, MJH
da Silva, SL
Korte, SM
Olivier, B
Garssen, J
Kraneveld, AD
AF de Theije, Caroline G. M.
Wu, Jiangbo
Koelink, Pim J.
Korte-Bouws, Gerdien A. H.
Borre, Yuliya
Kas, Martien J. H.
da Silva, Sofia Lopes
Korte, S. Mechiel
Olivier, Berend
Garssen, Johan
Kraneveld, Aletta D.
TI Autistic-like behavioural and neurochemical changes in a mouse model of
food allergy
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Autism spectrum disorders; Food allergy; Social behaviour; Repetitive
behaviour; Monoamines; Neuronal activation
ID IRRITABLE-BOWEL-SYNDROME; SEROTONIN TRANSPORTER FUNCTION; FRONTAL-LOBE
DAMAGE; C-FOS EXPRESSION; SPECTRUM DISORDERS; PREFRONTAL CORTEX;
MESOCORTICOLIMBIC DOPAMINE; SPONTANEOUS-ALTERNATION; SOCIAL
INTERACTIONS; 5-HT3 RECEPTORS
AB Food allergy has been suggested to contribute to the expression of psychological and psychiatric traits, including disturbed social behaviour and repetitive behaviour inherent in autism spectrum disorders (ASD). Most research in this field receives little attention, since fundamental evidence showing direct effects of food allergic immune responses on social behaviour is very limited. In the present study, we show that a food allergic reaction to cow's milk protein, induced shortly after weaning, reduced social behaviour and increased repetitive behaviour in mice. This food allergic reaction increased levels of serotonin (5-hydroxytryptamine; 5-HT) and the number of 5-HT positive cells, and decreased levels of 5-hydroxyindoleacetic acid (5-HIAA) in the intestine. Behavioural changes in food allergic mice were accompanied by reduced dopaminergic activity in the prefrontal cortex. Furthermore, neuronal activation (c-Fos expression) was increased in the prefrontal cortex and reduced in the paraventricular nucleus of the hypothalamus after exposure to a social target. We hypothesize that an intestinal allergic response regulates complex, but critical, neuroimmune interactions, thereby affecting brain circuits involved in social interaction, repetitive behaviour and cognition. Together witha genetic predisposition and multiple environmental factors, these effects of allergic immune activation may exacerbate behavioural abnormalities in patients with ASD. (C) 2013 Elsevier B.V. All-rights reserved.
C1 [de Theije, Caroline G. M.; Wu, Jiangbo; Koelink, Pim J.; Korte-Bouws, Gerdien A. H.; Borre, Yuliya; da Silva, Sofia Lopes; Korte, S. Mechiel; Olivier, Berend; Garssen, Johan; Kraneveld, Aletta D.] Univ Utrecht, Div Pharmacol, Fac Sci, Utrecht Inst Pharmaceut Sci, NL-3584 CG Utrecht, Netherlands.
[Kas, Martien J. H.] Univ Med Ctr Utrecht, Dept Translat Neurosci, Brain Ctr Rudolf Magnus, Utrecht, Netherlands.
[da Silva, Sofia Lopes; Garssen, Johan] Nutricia Res, Utrecht, Netherlands.
RP de Theije, CGM (reprint author), Univ Utrecht, Div Pharmacol, Univ Weg 99, NL-3584 CG Utrecht, Netherlands.
EM c.g.m.detheije@uu.nl
FU Nutricia Research
FX This study is part of the Utrecht University 'Focus en Massa' program
and financially supported by Nutricia Research. Dr. S. Lopes da Silva
and Prof. Dr. J. Garssen are employees of Nutricia Research and
therefore declare potential conflicts of interest. All other authors
report no biomedical financial interest or potential conflicts of
interest.
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NR 78
TC 3
Z9 3
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD MAR 15
PY 2014
VL 261
BP 265
EP 274
DI 10.1016/j.bbr.2013.12.008
PG 10
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AB0QK
UT WOS:000331497000033
PM 24333575
ER
PT J
AU LaSarge, CL
Danzer, SC
AF LaSarge, Candi L.
Danzer, Steve C.
TI Mechanisms regulating neuronal excitability and seizure development
following mTOR pathway hyperactivation
SO FRONTIERS IN MOLECULAR NEUROSCIENCE
LA English
DT Review
DE granule cells; epilepsy; mTOR; neurogenesis; PTEN; TSC; hippocampus;
autism
ID TUBEROUS SCLEROSIS COMPLEX; TEMPORAL-LOBE EPILEPSY; LONG-TERM
DEPRESSION; DENTATE GRANULE CELLS; RAPAMYCIN SIGNALING PATHWAY;
TUMOR-SUPPRESSOR GENE; INDUCED STATUS EPILEPTICUS; AUTISM SPECTRUM
DISORDERS; LHERMITTE-DUCLOS-DISEASE; FOCAL CORTICAL DYSPLASIA
AB The phosphatidylinositol-3-kinase/phosphatase and tensin homolog (PTEN)-mammalian target of rapamycin (mTOR) pathway regulates a variety of neuronal functions, including cell proliferation, survival, growth, and plasticity. Dysregulation of the pathway is implicated in the development of both genetic and acquired epilepsies. Indeed, several causal mutations have been identified in patients with epilepsy, the most prominent of these being mutations in PTEN and tuberous sclerosis complexes 1 and 2 (TSC1, TSC2). These genes act as negative regulators of mTOR signaling, and mutations lead to hyperactivation of the pathway. Animal models deleting PTEN, TSC1, and TSC2 consistently produce epilepsy phenotypes, demonstrating that increased mTOR signaling can provoke neuronal hyperexcitability. Given the broad range of changes induced by altered mTOR signaling, however, the mechanisms underlying seizure development in these animals remain uncertain. In transgenic mice, cell populations with hyperactive mTOR have many structural abnormalities that support recurrent circuit formation, including somatic and dendrite hypertrophy, aberrant basal dendrites, and enlargement of axon tracts. At the functional level, mTOR hyperactivation is commonly, but not always, associated with enhanced synaptic transmission and plasticity. Moreover, these populations of abnormal neurons can affect the larger network, inducing secondary changes that may explain paradoxical findings reported between cell and network functioning in different models or at different developmental time points. Here, we review the animal literature examining the link between mTOR hyperactivation and epileptogenesis, emphasizing the impact of enhanced mTOR signaling on neuronal form and function.
C1 [LaSarge, Candi L.; Danzer, Steve C.] Cincinnati Childrens Hosp Med Ctr, Dept Anesthesia, Cincinnati, OH 45229 USA.
[Danzer, Steve C.] Univ Cincinnati, Dept Anesthesia, Cincinnati, OH USA.
[Danzer, Steve C.] Univ Cincinnati, Dept Pediat, Cincinnati, OH USA.
RP Danzer, SC (reprint author), Cincinnati Childrens Hosp Med Ctr, Dept Anesthesia, 3333 Burnet Ave,ML 2001, Cincinnati, OH 45229 USA.
EM steve.danzer@cchmc.org
FU National Institute of Neurological Disorders and Stroke [R01NS065020,
R01NS062806, NRSA F32NS083239]
FX This work was supported by the National Institute of Neurological
Disorders and Stroke (SCD, Award Numbers R01NS065020 and R01NS062806;
CLL, NRSA F32NS083239). The content is solely the responsibility of the
authors and does not necessarily represent the official views of the
National Institute of Neurological Disorders and Stroke or the National
Institutes of health. We would also like to thank Keri Kaeding for
useful comments on earlier versions of this manuscript and Victor R.
Santos, Raymund Y. K. Pun, and Isaiah Rolle for contributing images for
figures.
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NR 182
TC 13
Z9 13
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5099
J9 FRONT MOL NEUROSCI
JI Front. Molec. Neurosci.
PD MAR 14
PY 2014
VL 7
AR 18
DI 10.3389/fnmo1.2014.00018
PG 15
WC Neurosciences
SC Neurosciences & Neurology
GA AZ0WN
UT WOS:000347962900001
PM 24672426
ER
PT J
AU Cauda, F
Geminiani, GC
Vercelli, A
AF Cauda, Franco
Geminiani, Giuliano Carlo
Vercelli, Alessandro
TI Evolutionary appearance of von Econorno's neurons in the mammalian
cerebral cortex
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Review
DE insula; cingulate cortex; salience network; self-awareness; prediction;
development
ID ANTERIOR CINGULATE CORTEX; INTRINSIC FUNCTIONAL CONNECTIVITY; VARIANT
FRONTOTEMPORAL DEMENTIA; DEFAULT-MODE NETWORKS; ECONOMO NEURONS;
PHYSIOLOGICAL CONDITION; FRONTOINSULAR CORTEX; CORTICAL NETWORKS;
CORPUS-CALLOSUM; MACAQUE MONKEY
AB von Economo's neurons (VENs) are large, spindle-shaped projection neurons in layer V of the frontoinsular (El) cortex, and the anterior cingulate cortex. During human ontogenesis, the VENs can first be differentiated at late stages of gestation, and increase in number during the first eight postnatal months. VENs have been identified in humans, chimpanzee, bonobos, gorillas, orangutan and, more recently, in the macaque. Their distribution in great apes seems to correlate with human-like social cognitive abilities and self-awareness. VENs are also found in whales, in a number of different cetaceans, and in the elephant. This phylogenetic distribution may suggest a correlation among the VENs, brain size and the "social brain." VENs may be involved in the pathogenesis of specific neurological and psychiatric diseases, such as autism, callosal agenesis and schizophrenia. VENs are selectively affected in a behavioral variant of frontotemporal dementia in which empathy, social awareness and self-control are seriously compromised, thus associating VENs with the social brain. However, the presence of VENs has also been related to special functions such as mirror self-recognition. Areas containing VENs have been related to motor awareness or sense-of-knowing, discrimination between self and other, and between self and the external environment. Along this line, VENs have been related to the "global Workspace" architecture: in accordance the VENs have been correlated to emotional and interoceptive signals by providing fast connections (large axons = fast communication) between salience-related insular and cingulate and other widely separated brain areas. Nevertheless, the lack of a characterization of their physiology and anatomical connectivity allowed only to infer their functional role based on their location and on the functional magnetic resonance imaging data. The recent finding of VENs in the anterior insula of the macaque opens the way to new insights and experimental investigations.
C1 [Cauda, Franco; Geminiani, Giuliano Carlo] Univ Turin, CCS fMRI Koelliker Hosp, I-10043 Turin, Italy.
[Cauda, Franco; Geminiani, Giuliano Carlo] Univ Turin, Dept Psychol, I-10043 Turin, Italy.
[Vercelli, Alessandro] Univ Turin, Dept Neurosci, Neurosci Inst Cavalieri Ottolenghi, I-10043 Turin, Italy.
RP Vercelli, A (reprint author), Univ Turin, Dept Neurosci, Neurosci Inst Cavalieri Ottolenghi, Reg Gonzole 10, I-10043 Turin, Italy.
EM alessandro.vercelli@unito.it
FU Italian Ministry of University
FX Supported by grants of the Italian Ministry of University and Research
to Giuliano Carlo Geminiani and Alessandro Vercelli.
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NR 108
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD MAR 14
PY 2014
VL 8
AR 104
DI 10.3389/fnhum.2014.00104
PG 11
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AC8DY
UT WOS:000332764500001
PM 24672457
ER
PT J
AU Bartholomew, AJ
Cirulli, ET
AF Bartholomew, Alex J.
Cirulli, Elizabeth T.
TI Individual Variation in Contagious Yawning Susceptibility Is Highly
Stable and Largely Unexplained by Empathy or Other Known Factors
SO PLOS ONE
LA English
DT Article
ID COGNITIVE TESTS; CHIMPANZEES; SCALE; PERFORMANCE; SLEEPINESS; IMITATION;
AGE
AB The contagious aspect of yawning is a well-known phenomenon that exhibits variation in the human population. Despite the observed variation, few studies have addressed its intra-individual reliability or the factors modulating differences in the susceptibility of healthy volunteers. Due to its obvious biological basis and impairment in diseases like autism and schizophrenia, a better understanding of this trait could lead to novel insights into these conditions and the general biological functioning of humans. We administered 328 participants a 3-minute yawning video stimulus, a cognitive battery, and a comprehensive questionnaire that included measures of empathy, emotional contagion, circadian energy rhythms, and sleepiness. Individual contagious yawning measurements were found to be highly stable across testing sessions, both in a lab setting and if administered remotely online, confirming that certain healthy individuals are less susceptible to contagious yawns than are others. Additionally, most individuals who failed to contagiously yawn in our study were not simply suppressing their reaction, as they reported not even feeling like yawning in response to the stimulus. In contrast to previous studies indicating that empathy, time of day, or intelligence may influence contagious yawning susceptibility, we found no influence of these variables once accounting for the age of the participant. Participants were less likely to show contagious yawning as their age increased, even when restricting to ages of less than 40 years. However, age was only able to explain 8% of the variability in the contagious yawn response. The vast majority of the variability in this extremely stable trait remained unexplained, suggesting that studies of its inheritance are warranted.
C1 [Bartholomew, Alex J.; Cirulli, Elizabeth T.] Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27706 USA.
RP Cirulli, ET (reprint author), Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27706 USA.
EM etc3@duke.edu
FU National Institute of Mental Health of the National Institutes of Health
[K01MH098126]; Ellison Medical Foundation [AG-NS-0441-08]
FX Research reported in this publication was supported by the National
Institute of Mental Health of the National Institutes of Health under
award number K01MH098126 and the Ellison Medical Foundation New Scholar
award AG-NS-0441-08. The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript.
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NR 48
TC 2
Z9 2
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAR 14
PY 2014
VL 9
IS 3
AR e91773
DI 10.1371/journal.pone.0091773
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AC9MJ
UT WOS:000332858400088
PM 24632594
ER
PT J
AU Kornmeier, J
Worner, R
Riedel, A
Bach, M
van Elst, LT
AF Kornmeier, Juergen
Woerner, Rike
Riedel, Andreas
Bach, Michael
van Elst, Ludger Tebartz
TI A Different View on the Checkerboard? Alterations in Early and Late
Visually Evoked EEG Potentials in Asperger Observers
SO PLOS ONE
LA English
DT Article
ID FUNCTIONING AUTISM; PERCEPTION; ATTENTION; QUOTIENT; BRAIN; P300;
RECOGNITION; DISORDERS; CHILDREN; P3B
AB Background: Asperger Autism is a lifelong psychiatric condition with highly circumscribed interests and routines, problems in social cognition, verbal and nonverbal communication, and also perceptual abnormalities with sensory hypersensitivity. To objectify both lower-level visual and cognitive alterations we looked for differences in visual event-related potentials (EEG) between Asperger observers and matched controls while they observed simple checkerboard stimuli.
Methods: In a balanced oddball paradigm checkerboards of two checksizes (0.6 degrees and 1.2 degrees) were presented with different frequencies. Participants counted the occurrence times of the rare fine or rare coarse checkerboards in different experimental conditions. We focused on early visual ERP differences as a function of checkerboard size and the classical P3b ERP component as an indicator of cognitive processing.
Results: We found an early (100-200 ms after stimulus onset) occipital ERP effect of checkerboard size (dominant spatial frequency). This effect was weaker in the Asperger than in the control observers. Further a typical parietal/central oddball-P3b occurred at 500 ms with the rare checkerboards. The P3b showed a right-hemispheric lateralization, which was more prominent in Asperger than in control observers.
Discussion: The difference in the early occipital ERP effect between the two groups may be a physiological marker of differences in the processing of small visual details in Asperger observers compared to normal controls. The stronger lateralization of the P3b in Asperger observers may indicate a stronger involvement of the right-hemispheric network of bottom-up attention. The lateralization of the P3b signal might be a compensatory consequence of the compromised early checksize effect. Higher-level analytical information processing units may need to compensate for difficulties in low-level signal analysis.
C1 [Kornmeier, Juergen] Inst Frontier Areas Psychol & Mental Hlth, Freiburg, Germany.
[Kornmeier, Juergen; Bach, Michael] Univ Freiburg, Ctr Eye, D-79106 Freiburg, Germany.
[Woerner, Rike] PPD Germany GmbH & Co Kg, Karlsruhe, Germany.
[Riedel, Andreas; van Elst, Ludger Tebartz] Univ Freiburg, Sect Expt Neuropsychiat, Clin Psychiat & Psychotherapy, D-79106 Freiburg, Germany.
RP Kornmeier, J (reprint author), Inst Frontier Areas Psychol & Mental Hlth, Freiburg, Germany.
EM juergen.kornmeier@uni-freiburg.de
RI Bach, Michael/A-6637-2010
OI Bach, Michael/0000-0003-2028-535X
FU Deutsche Forschungsgemeinschaft [KO 4764/1-1, TE 280/8-1]
FX This study was supported by the Deutsche Forschungsgemeinschaft (KO
4764/1-1 & TE 280/8-1). The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript.
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NR 42
TC 2
Z9 2
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAR 14
PY 2014
VL 9
IS 3
AR e90993
DI 10.1371/journal.pone.0090993
PG 13
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AC9MJ
UT WOS:000332858400030
PM 24632708
ER
PT J
AU Nieland, TJF
Logan, DJ
Saulnier, J
Lam, D
Johnson, C
Root, DE
Carpenter, AE
Sabatini, BL
AF Nieland, Thomas J. F.
Logan, David J.
Saulnier, Jessica
Lam, Daniel
Johnson, Caroline
Root, David E.
Carpenter, Anne E.
Sabatini, Bernardo L.
TI High Content Image Analysis Identifies Novel Regulators of
Synaptogenesis in a High-Throughput RNAi Screen of Primary Neurons
SO PLOS ONE
LA English
DT Article
ID PSYCHIATRIC-DISORDERS; BETA-CATENIN; RAT-BRAIN; EXPRESSION; PROTEINS;
SCHIZOPHRENIA; SYNAPSE; FAMILY; AUTISM; SCALE
AB The formation of synapses, the specialized points of chemical communication between neurons, is a highly regulated developmental process fundamental to establishing normal brain circuitry. Perturbations of synapse formation and function causally contribute to human developmental and degenerative neuropsychiatric disorders, such as Alzheimer's disease, intellectual disability, and autism spectrum disorders. Many genes controlling synaptogenesis have been identified, but lack of facile experimental systems has made systematic discovery of regulators of synaptogenesis challenging. Thus, we created a high-throughput platform to study excitatory and inhibitory synapse development in primary neuronal cultures and used a lentiviral RNA interference library to identify novel regulators of synapse formation. This methodology is broadly applicable for high-throughput screening of genes and drugs that may rescue or improve synaptic dysfunction associated with cognitive function and neurological disorders.
C1 [Nieland, Thomas J. F.] Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA 02139 USA.
[Lam, Daniel; Root, David E.] Broad Inst Harvard & MIT, RNAi Platform, Cambridge, MA USA.
[Logan, David J.; Carpenter, Anne E.] Broad Inst Harvard & MIT, Cambridge, MA USA.
[Saulnier, Jessica; Johnson, Caroline; Sabatini, Bernardo L.] Harvard Univ, Sch Med, Howard Hughes Med Inst, Boston, MA 02115 USA.
RP Nieland, TJF (reprint author), Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA 02139 USA.
EM tnieland@broadinstitute.org; bernardo_sabatini@hms.harvard.edu
RI Carpenter, Anne/C-4982-2008
OI Carpenter, Anne/0000-0003-1555-8261
FU National Institutes of Health [MH095096, R01 GM089652]
FX Grants supported by National Institutes of Health (MH095096 to BLS and
R01 GM089652 to AEC). The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript.
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NR 30
TC 2
Z9 2
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAR 14
PY 2014
VL 9
IS 3
AR e91744
DI 10.1371/journal.pone.0091744
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AC9MJ
UT WOS:000332858400084
PM 24633176
ER
PT J
AU Costantino, MA
Bonati, M
AF Costantino, Maria Antonella
Bonati, Maurizio
TI A Scoping Review of Interventions to Supplement Spoken Communication for
Children with Limited Speech or Language Skills
SO PLOS ONE
LA English
DT Review
ID RANDOMIZED CLINICAL-TRIALS; ALTERNATIVE COMMUNICATION; COMPLEX
INTERVENTIONS; DEVELOPMENTAL DELAYS; SERVICE PROVISION; AAC
TECHNOLOGIES; CEREBRAL-PALSY; DEAF PEOPLE; HEALTH-CARE; AUTISM
AB Background: Augmentative and Alternative Communication (AAC) is used for treating children with severe disorders of speech-language production and/or comprehension. Various strategies are used, but research and debate on their efficacy have remained limited to a specific area and have rarely reached the general medical community.
Objective: To systematically evaluate outcomes of AAC interventions in children with limited speech or language skills.
Methods: Searches were conducted (up to December 2012) in the MEDLINE, EMBASE, PsycINFO, CINAHL, DARE, and Cochrane Library databases. Furthermore, relevant journals were searched by hand. References from identified studies were examined. Only RCTs were considered. Trial quality was assessed according to a standardized and validated set of criteria.
Results: Fourteen of 1661 retrieved papers met inclusion criteria. A total of 666 children were included in the review and 7 papers involved only children <5 years old. Papers were of average quality and all but one had been published during the previous 10 years by one of 8 research groups, 5 of which from the United States. Seven studies directly addressed AAC use by children with different disabilities. Seven studies enrolled typically developing children: 5 evaluated the use of AAC technologies by children without disabilities in order to obtain results that could be used to improve interventions in peers with disabilities, and 2 evaluated peers' attitudes towards children who used AAC. Both interventions and outcome measures varied widely between studies. Overall findings demonstrate the effectiveness of the AAC interventions considered, but the focus on RCTs alone appears too restrictive.
Conclusions: Solid evidence of the positive effects of AAC interventions in children with severe communication disorders must be generated, and different methods are needed besides RCTs. Moreover, it is important that knowledge, research, and debate extend to the medical community in order to ensure clinically effective AAC provision for these children (and their parents).
C1 [Costantino, Maria Antonella] Osped Maggiore Policlin, IRCCS Fdn Ca Granda, Child & Adolescent Neuropsychiat Unit, Milan, Italy.
[Bonati, Maurizio] IRCCS Mario Negri Pharmacol Res Inst, Lab Mother & Child Hlth, Dept Publ Hlth, Milan, Italy.
RP Bonati, M (reprint author), IRCCS Mario Negri Pharmacol Res Inst, Lab Mother & Child Hlth, Dept Publ Hlth, Milan, Italy.
EM mother_child@marionegri.it
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NR 60
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAR 13
PY 2014
VL 9
IS 3
AR e90744
DI 10.1371/journal.pone.0090744
PG 15
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AC9JS
UT WOS:000332851300031
PM 24625465
ER
PT J
AU Takahashi, H
Nakahachi, T
Komatsu, S
Ogino, K
Iida, Y
Kamio, Y
AF Takahashi, Hidetoshi
Nakahachi, Takayuki
Komatsu, Sahoko
Ogino, Kazuo
Iida, Yukako
Kamio, Yoko
TI Hyperreactivity to weak acoustic stimuli and prolonged acoustic startle
latency in children with autism spectrum disorders
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorders; Acoustic startle response; Startle latency;
Hyperreactivity; Quantitative autistic traits; Asian
ID PREPULSE INHIBITION; PERCEPTION
AB Background: People with autism spectrum disorders (ASD) are known to have enhanced auditory perception, however, acoustic startle response to weak stimuli has not been well documented in this population. The objectives of this study are to evaluate the basic profile of acoustic startle response, including peak startle latency and startle magnitude to weaker stimuli, in children with ASD and typical development (TD), and to evaluate their relationship to ASD characteristics.
Methods: We investigated acoustic startle response with weak and strong acoustic stimuli in 12 children with ASD and 28 children with TD, analyzing the relationship between startle measures and quantitative autistic traits assessed with the Social Responsiveness Scale (SRS). The electromyographic activity of the left orbicularis oculi muscle to acoustic stimuli of 65 to 115 dB sound pressure level (SPL), in increments of 5 dB, was measured to evaluate acoustic startle response. The average eyeblink magnitude for each acoustic stimuli intensity and the average peak startle latency of acoustic startle response were evaluated.
Results: The magnitude of the acoustic startle response to weak stimuli (85 dB or smaller) was greater in children with ASD. The peak startle latency was also prolonged in individuals with ASD. The average magnitude of the acoustic startle response for stimulus intensities greater than 85 dB was not significantly larger in the ASD group compared with the controls. Both greater startle magnitude in response to weak stimuli (particularly at 85 dB) and prolonged peak startle latency were significantly associated with total scores, as well as several subscales of the SRS in the whole sample. We also found a significant relationship between scores on the social cognition subscale of the SRS and the average magnitude of the acoustic startle response for stimulus intensities of 80 and 85 dB in the TD group.
Conclusions: Children with ASD exhibited larger startle magnitude to weak stimuli and prolonged peak startle latency. These startle indices were related to several characteristics of ASD. A comprehensive investigation of acoustic startle response, including the magnitude of startle responses to weak stimuli and peak startle latency, might further our understanding of the neurophysiological impairments underlying ASD.
C1 [Takahashi, Hidetoshi; Nakahachi, Takayuki; Komatsu, Sahoko; Ogino, Kazuo; Iida, Yukako; Kamio, Yoko] Natl Ctr Neurol & Psychiat, Natl Inst Mental Hlth, Dept Child & Adolescent Mental Hlth, Kodaira, Tokyo 1878553, Japan.
RP Takahashi, H (reprint author), Natl Ctr Neurol & Psychiat, Natl Inst Mental Hlth, Dept Child & Adolescent Mental Hlth, 4-1-1 Ogawahigashicho, Kodaira, Tokyo 1878553, Japan.
EM htakahashi@ncnp.go.jp
FU Japanese Ministry of Education, Culture, Sports, Science and Technology
[23890257, 24591739]; Intramural Research Grant for Neurological and
Psychiatric Disorders of the National Center of Neurology and Psychiatry
(NCNP) [23-1]; Japanese Ministry of Health, Labour and Welfare
[H19-KOKORO-006, H20-KOKORO-004]
FX The authors wish to thank all the subjects who participated in this
study and their parents. This study was supported by Grants-in-Aid from
the Japanese Ministry of Education, Culture, Sports, Science and
Technology (23890257, 24591739), Intramural Research Grant (23-1) for
Neurological and Psychiatric Disorders of the National Center of
Neurology and Psychiatry (NCNP), and research grants from the Japanese
Ministry of Health, Labour and Welfare (H19-KOKORO-006 and
H20-KOKORO-004).
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Bonnel A, 2003, J COGNITIVE NEUROSCI, V15, P226, DOI 10.1162/089892903321208169
Chamberlain PD, 2013, MOL AUTISM, V4, DOI 10.1186/2040-2392-4-31
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Constantino JN, 2005, SOCIAL RESPONSIVENES
Gomes Erissandra, 2008, Pro Fono, V20, P279
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Yuhas J, 2011, J AUTISM DEV DISORD, V41, P248, DOI 10.1007/s10803-010-1040-9
NR 28
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD MAR 12
PY 2014
VL 5
AR 23
DI 10.1186/2040-2392-5-23
PG 8
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4XU
UT WOS:000334718700001
PM 24618368
ER
PT J
AU Connelly, JJ
Golding, J
Gregory, SP
Ring, SM
Davis, JM
Smith, GD
Harris, JC
Carter, CS
Pembrey, M
AF Connelly, Jessica J.
Golding, Jean
Gregory, Steven P.
Ring, Susan M.
Davis, John M.
Smith, George Davey
Harris, James C.
Carter, C. Sue
Pembrey, Marcus
TI Personality, Behavior and Environmental Features Associated with OXTR
Genetic Variants in British Mothers
SO PLOS ONE
LA English
DT Article
ID OXYTOCIN RECEPTOR GENE; CHILDREN ALSPAC; EXPOSOME; PARENTS; SAMPLE;
PSYCHOPATHOLOGY; VASOPRESSIN; METABOLISM; HEALTH; AUTISM
AB Background: It is assumed that the oxytocin receptor gene (OXTR) is associated with factors that are related to features of reproduction as well as the currently emerging fields of mood and emotional response.
Methods: We analysed data from over 8000 mothers who participated in the Avon Longitudinal Study of Parents and Children (ALSPAC). We determined reproductive, emotional and personality differences related to the two SNPs rs53576 and rs2254298 of the oxytocin receptor gene to determine whether there was evidence in this population for: (i) associations with emotional and personality differences, and (ii) behavioural or environmental links with these SNPs using a hypothesis free approach with over 1000 types of exposure.
Results: Our analyses of 7723 women showed that there were no differences in 11 mood, social or relationship characteristics associated with the rs2254298, and just one with rs53576 (with emotional loneliness) - one statistically significant out of 22 tests is no more than would be expected by chance. There were no interactions with childhood abuse. Using a hypothesis-free approach we found few indicators of environmental or behavioural differences associated with rs2254298, but there was an excess of associations with eating habits with rs53576. The findings included an association with dieting to lose weight, and habits typical of bulimia for the women with GG. The nutrition of the women also showed negative associations of the GG genotype with 13 nutrients, including vitamins D, B-12 and retinol, and intake of calcium, potassium and iodine.
Conclusions: We conclude that this large database of pregnant women was unable to provide confirmation of the types of personality associated with these two OXTR SNPs, but we have shown some evidence of eating differences in those with GG on rs53576. Confirmation of our hypothesis free associations using other data sets is important.
C1 [Connelly, Jessica J.] Univ Virginia, Dept Med, Div Cardiovasc Med, Charlottesville, VA 22903 USA.
[Connelly, Jessica J.] Univ Virginia, Robert M Berne Cardiovasc Res Ctr, Charlottesville, VA USA.
[Golding, Jean; Gregory, Steven P.; Pembrey, Marcus] Univ Bristol, Ctr Child & Adolescent Hlth, Sch Social & Community Med, Bristol, Avon, England.
[Ring, Susan M.; Smith, George Davey] Univ Bristol, Sch Social & Community Med, Avon Longitudinal Study Parents & Children, Bristol, Avon, England.
[Davis, John M.] Univ Illinois, Dept Psychiat, Chicago, IL 60612 USA.
[Harris, James C.] Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA.
[Carter, C. Sue] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
[Carter, C. Sue] Northeastern Univ, Dept Psychol, Boston, MA 02115 USA.
[Pembrey, Marcus] UCL, Inst Child Hlth, London, England.
RP Connelly, JJ (reprint author), Univ Virginia, Dept Med, Div Cardiovasc Med, Charlottesville, VA 22903 USA.
EM jessica.connelly@virginia.edu
RI Davey Smith, George/A-7407-2013
OI Davey Smith, George/0000-0002-1407-8314
FU Medical Research Council [G1100226]; Fetzer Institute [3091.00]
FX The UK Medical Research Council (MRC), the Wellcome Trust and the
University of Bristol currently provide core support for ALSPAC. The
statistical analyses for this project were undertaken with funding from
the Medical Research Council [grant no. G1100226]. Genotyping to confirm
imputation of rs2254298 was funded through the Fetzer Institute (Project
#3091.00). The funders had no role in study design, data collection and
analysis, decision to publish, or preparation of the manuscript.
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NR 42
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAR 12
PY 2014
VL 9
IS 3
AR e90465
DI 10.1371/journal.pone.0090465
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AC9HN
UT WOS:000332845300021
PM 24621820
ER
PT J
AU Han, DH
Yoo, HJ
Kim, BN
McMahon, W
Renshaw, PF
AF Han, Doug Hyun
Yoo, Hee Jeong
Kim, Bung Nyun
McMahon, William
Renshaw, Perry F.
TI Brain Activity of Adolescents with High Functioning Autism in Response
to Emotional Words and Facial Emoticons
SO PLOS ONE
LA English
DT Article
ID FUSIFORM FACE AREA; COMPUTER-MEDIATED COMMUNICATION;
NONVERBAL-COMMUNICATION; SPECTRUM DISORDERS; BIOLOGICAL MOTION; JOINT
ATTENTION; PERCEPTION; CHILDREN; COMPREHENSION; LANGUAGE
AB Studies of social dysfunction in patients with autism spectrum disorder (ASD) have generally focused on the perception of emotional words and facial affect. Brain imaging studies have suggested that the fusiform gyrus is associated with both the comprehension of language and face recognition. We hypothesized that patients with ASD would have decreased ability to recognize affect via emotional words and facial emoticons, relative to healthy comparison subjects. In addition, we expected that this decreased ability would be associated with altered activity of the fusiform gyrus in patients with ASD. Ten male adolescents with ASDs and ten age and sex matched healthy comparison subjects were enrolled in this case-control study. The diagnosis of autism was further evaluated with the Autism Diagnostic Observation Schedule. Brain activity was assessed using functional magnetic resonance imaging (fMRI) in response to emotional words and facial emoticon presentation. Sixty emotional words (45 pleasant words +15 unpleasant words) were extracted from a report on Korean emotional terms and their underlying dimensions. Sixty emoticon faces (45 pleasant faces +15 unpleasant faces) were extracted and modified from on-line sites. Relative to healthy comparison subjects, patients with ASD have increased activation of fusiform gyrus in response to emotional aspects of words. In contrast, patients with ASD have decreased activation of fusiform gyrus in response to facial emoticons, relative to healthy comparison subjects. We suggest that patients with ASD are more familiar with word descriptions than facial expression as depictions of emotion.
C1 [Han, Doug Hyun] Chung Ang Univ Hosp, Dept Psychiat, Seoul, South Korea.
[Yoo, Hee Jeong] Seoul Natl Bundang Hosp, Dept Psychiat, Seoul, South Korea.
[Kim, Bung Nyun] Seoul Natl Hosp, Dept Psychiat, Seoul, South Korea.
[McMahon, William] Univ Utah, Dept Psychiat, Salt Lake City, UT USA.
[Renshaw, Perry F.] Univ Utah, Inst Brain, Salt Lake City, UT USA.
RP Han, DH (reprint author), Chung Ang Univ Hosp, Dept Psychiat, Seoul, South Korea.
EM hduk@yahoo.com
FU Korean Game Culture Foundation; Korean Health Technology R&D Project,
Ministry of Health & Welfare, Republic of Korea [A120013]
FX This work was supported by Korean Game Culture Foundation and a grant of
the Korean Health Technology R&D Project, Ministry of Health & Welfare,
Republic of Korea (A120013). The funders had no role in study design,
data collection and analysis, decision to publish, or preparation of the
manuscript.
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NR 52
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAR 12
PY 2014
VL 9
IS 3
AR e91214
DI 10.1371/journal.pone.0091214
PG 8
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AC9HN
UT WOS:000332845300065
PM 24621866
ER
PT J
AU Westmark, CJ
AF Westmark, Cara J.
TI Soy Infant Formula and Seizures in Children with Autism: A Retrospective
Study
SO PLOS ONE
LA English
DT Article
ID FED BREAST-MILK; FRAGILE-X-SYNDROME; SPECTRUM DISORDERS; FEBRILE
SEIZURES; EPILEPSY; PHYTOESTROGENS; MANAGEMENT; EXPOSURE; BEHAVIOR;
DISEASE
AB Seizures are a common phenotype in many neurodevelopmental disorders including fragile X syndrome, Down syndrome and autism. We hypothesized that phytoestrogens in soy-based infant formula were contributing to lower seizure threshold in these disorders. Herein, we evaluated the dependence of seizure incidence on infant formula in a population of autistic children. Medical record data were obtained on 1,949 autistic children from the SFARI Simplex Collection. An autism diagnosis was determined by scores on the ADI-R and ADOS exams. The database included data on infant formula use, seizure incidence, the specific type of seizure exhibited and IQ. Soy-based formula was utilized in 17.5% of the study population. Females comprised 13.4% of the subjects. There was a 2.6-fold higher rate of febrile seizures [4.2% versus 1.6%, OR = 2.6, 95% CI = 1.3-5.3], a 2.1-fold higher rate of epilepsy comorbidity [3.6% versus 1.7%, OR = 2.2, 95% CI = 1.1-4.7] and a 4-fold higher rate of simple partial seizures [1.2% versus 0.3%, OR = 4.8, 95% CI = 1.0-23] in the autistic children fed soy-based formula. No statistically significant associations were found with other outcomes including: IQ, age of seizure onset, infantile spasms and atonic, generalized tonic clonic, absence and complex partial seizures. Limitations of the study included: infant formula and seizure data were based on parental recall, there were significantly less female subjects, and there was lack of data regarding critical confounders such as the reasons the subjects used soy formula, age at which soy formula was initiated and the length of time on soy formula. Despite these limitations, our results suggest that the use of soy-based infant formula may be associated with febrile seizures in both genders and with a diagnosis of epilepsy in males in autistic children. Given the lack of data on critical confounders and the retrospective nature of the study, a prospective study is required to confirm the association.
C1 Univ Wisconsin, Dept Neurol, Madison, WI 53706 USA.
RP Westmark, CJ (reprint author), Univ Wisconsin, Dept Neurol, Madison, WI 53706 USA.
EM westmark@wisc.edu
FU FRAXA Research Foundation; National Institutes of Health (NIH)
[1UL1RR025011, 9U54TR000021]
FX This work was supported by FRAXA Research Foundation (www.fraxa.org) and
National Institutes of Health (NIH) (www.nih.gov) [1UL1RR025011 and
9U54TR000021]. The funders had no role in study design, data collection
and analysis, decision to publish, or preparation of the manuscript.
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NR 32
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAR 12
PY 2014
VL 9
IS 3
AR e80488
DI 10.1371/journal.pone.0080488
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AC9HN
UT WOS:000332845300001
PM 24622158
ER
PT J
AU Woo, JS
Kim, VN
AF Woo, Jae-Sung
Kim, V. Narry
TI MeCP2 Caught Moonlighting as a Suppressor of MicroRNA Processing
SO DEVELOPMENTAL CELL
LA English
DT Editorial Material
ID BIOGENESIS
AB MeCP2 is a transcriptional regulator important for neurodevelopment and is involved in Rett syndrome and autism. In this issue of Developmental Cell, Cheng and colleagues (2014) report that MeCP2 also regulates microRNA biogenesis. MeCP2 phosphorylation induces a direct interaction with DGCR8, leading to reduced microRNA processing and retardation of dendritic growth.
C1 [Woo, Jae-Sung; Kim, V. Narry] Inst for Basic Sci Korea, Ctr RNA Res, Seoul 151742, South Korea.
[Woo, Jae-Sung; Kim, V. Narry] Seoul Natl Univ, Sch Biol Sci, Seoul 151742, South Korea.
RP Kim, VN (reprint author), Inst for Basic Sci Korea, Ctr RNA Res, Seoul 151742, South Korea.
EM narrykim@snu.ac.kr
CR Bronevetsky Y, 2013, IMMUNOL REV, V253, P304, DOI 10.1111/imr.12059
Cheng TL, 2014, DEV CELL, V28, P547, DOI 10.1016/j.devcel.2014.01.032
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NR 7
TC 0
Z9 0
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 1534-5807
EI 1878-1551
J9 DEV CELL
JI Dev. Cell
PD MAR 10
PY 2014
VL 28
IS 5
BP 477
EP 478
DI 10.1016/j.devcel.2014.02.015
PG 2
WC Cell Biology; Developmental Biology
SC Cell Biology; Developmental Biology
GA AD6XU
UT WOS:000333405600001
PM 24636253
ER
PT J
AU Cheng, TL
Wang, ZZ
Liao, QM
Zhu, Y
Zhou, WH
Xu, WQ
Qiu, ZL
AF Cheng, Tian-Lin
Wang, Zhizhi
Liao, Qiuming
Zhu, Ying
Zhou, Wen-Hao
Xu, Wenqing
Qiu, Zilong
TI MeCP2 Suppresses Nuclear MicroRNA Processing and Dendritic Growth by
Regulating the DGCR8/Drosha Complex
SO DEVELOPMENTAL CELL
LA English
DT Article
ID CPG-BINDING PROTEIN-2; RETT-SYNDROME; DEPENDENT PHOSPHORYLATION;
MICROPROCESSOR COMPLEX; CHROMOSOMAL PROTEIN; BDNF TRANSCRIPTION; MOUSE
MODEL; DROSHA; BRAIN; EXPRESSION
AB Loss- and gain-of-function mutations of the X-linked gene MECP2 (methyl-CpG binding protein 2) lead to severe neurodevelopmental disorders in humans, such as Rett syndrome (RTT) and autism. MeCP2 is previously known as a transcriptional repressor by binding to methylated DNA and recruiting histone deacetylase complex (HDAC). Here, we report that MeCP2 regulates gene expression posttranscriptionally by suppressing nuclear microRNA processing. We found that MeCP2 binds directly to DiGeorge syndrome critical region 8 (DGCR8), a critical component of the nuclear microRNA-processing machinery, and interferes with the assembly of Drosha and DGCR8 complex. Protein targets of MeCP2-suppressed microRNAs include CREB, LIMK1, and Pumilio2, which play critical roles in neural development. Gain of function of MeCP2 strongly inhibits dendritic and spine growth, which depends on the interaction of MeCP2 and DGCR8. Thus, control of microRNA processing via direct interaction with DGCR8 represents a mechanism for MeCP2 regulation of gene expression and neural development.
C1 [Cheng, Tian-Lin; Liao, Qiuming; Zhu, Ying; Qiu, Zilong] Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China.
[Wang, Zhizhi; Xu, Wenqing] Univ Washington, Dept Biol Struct, Seattle, WA 98195 USA.
[Zhou, Wen-Hao] Fudan Univ, Childrens Hosp, Dept Neonatol, Shanghai 201102, Peoples R China.
[Cheng, Tian-Lin] Univ Chinese Acad Sci, Beijing 100049, Peoples R China.
RP Qiu, ZL (reprint author), Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Neurosci, Shanghai 200031, Peoples R China.
EM zqiu@ion.ac.cn
FU 973 Program Grant [2011CBA00400]; CAS Hundreds of Talents Program;
Strategic Priority Research Program of the Chinese Academy of Science
[XDB02050400]
FX We thank Dr. Mu-ming Poo for his critical comments on the manuscript. We
thank Dr. Adrian Bird for providing rat MeCP2 cDNA. This work was
supported by the 973 Program Grant 2011CBA00400, CAS Hundreds of Talents
Program, Strategic Priority Research Program of the Chinese Academy of
Science Grant XDB02050400 to Z.Q.
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NR 43
TC 17
Z9 18
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 1534-5807
EI 1878-1551
J9 DEV CELL
JI Dev. Cell
PD MAR 10
PY 2014
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IS 5
BP 547
EP 560
DI 10.1016/j.devcel.2014.01.032
PG 14
WC Cell Biology; Developmental Biology
SC Cell Biology; Developmental Biology
GA AD6XU
UT WOS:000333405600009
PM 24636259
ER
PT J
AU Wilson, C
AF Wilson, Clare
TI Girls shielded from mutations linked to autism
SO NEW SCIENTIST
LA English
DT News Item
NR 0
TC 0
Z9 0
PU REED BUSINESS INFORMATION LTD
PI SUTTON
PA QUADRANT HOUSE THE QUADRANT, SUTTON SM2 5AS, SURREY, ENGLAND
SN 0262-4079
J9 NEW SCI
JI New Sci.
PD MAR 8
PY 2014
VL 221
IS 2959
BP 12
EP 12
PG 1
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AC8AO
UT WOS:000332755600010
ER
PT J
AU Lai, MC
Lombardo, MV
Baron-Cohen, S
AF Lai, Meng-Chuan
Lombardo, Michael V.
Baron-Cohen, Simon
TI Autism
SO LANCET
LA English
DT Article
ID DE-NOVO MUTATIONS; RANDOMIZED CONTROLLED-TRIAL; SPECTRUM DISORDERS;
CHILDHOOD AUTISM; WHITE-MATTER; COMPREHENSIVE METAANALYSIS; PSYCHIATRIC
COMORBIDITY; BRAIN CONNECTIVITY; ASPERGER SYNDROME; ALE METAANALYSIS
AB Autism is a set of heterogeneous neurodevelopmental conditions, characterised by early-onset difficulties in social communication and unusually restricted, repetitive behaviour and interests. The worldwide population prevalence is about 1%. Autism affects more male than female individuals, and comorbidity is common (>70% have concurrent conditions). Individuals with autism have atypical cognitive profiles, such as impaired social cognition and social perception, executive dysfunction, and atypical perceptual and information processing. These profiles are underpinned by atypical neural development at the systems level. Genetics has a key role in the aetiology of autism, in conjunction with developmentally early environmental factors. Large-effect rare mutations and small-effect common variants contribute to risk. Assessment needs to be multidisciplinary and developmental, and early detection is essential for early intervention. Early comprehensive and targeted behavioural interventions can improve social communication and reduce anxiety and aggression. Drugs can reduce comorbid symptoms, but do not directly improve social communication. Creation of a supportive environment that accepts and respects that the individual is different is crucial.
C1 [Lai, Meng-Chuan; Lombardo, Michael V.; Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 8AH, England.
[Lai, Meng-Chuan] Natl Taiwan Univ, Coll Med, Dept Psychiat, Taipei 10764, Taiwan.
[Lombardo, Michael V.] Univ Cyprus, Dept Psychol, Nicosia, Cyprus.
[Baron-Cohen, Simon] Cambridgeshire & Peterborough NHS Fdn Trust, Cambridge, England.
RP Lai, MC (reprint author), Univ Cambridge, Dept Psychiat, Autism Res Ctr, Douglas House,18B Trumpington Rd, Cambridge CB2 8AH, England.
EM mcl45@cam.ac.uk
FU European Autism Interventions-A Multicentre Study for Developing New
Medications; Innovative Medicines Initiative [115300]; European Union's
Seventh Framework Programme [FP7]; European Federation of Pharmaceutical
Industries and Associations companies; Autism Speaks; Wolfson College
(University of Cambridge, UK); British Academy and Jesus College
(University of Cambridge, UK); Wellcome Trust; UK Medical Research
Council; National Institute for Health Research Collaboration for
Leadership in Applied Health Research and Care for Cambridgeshire and
Peterborough NHS Foundation Trust; Autism Research Trust; European Union
ASC-Inclusion Project; Target Autism Genome
FX All authors are supported by the European Autism Interventions-A
Multicentre Study for Developing New Medications (which receives support
from the Innovative Medicines Initiative Joint Undertaking [grant
agreement 115300], resources of which are composed of financial
contribution from the European Union's Seventh Framework Programme
[FP7/2007-2013], European Federation of Pharmaceutical Industries and
Associations companies, and Autism Speaks). M-CL is supported by Wolfson
College (University of Cambridge, UK). MVL is supported by the British
Academy and Jesus College (University of Cambridge, UK). SB-C is
supported by the Wellcome Trust, the UK Medical Research Council, the
National Institute for Health Research Collaboration for Leadership in
Applied Health Research and Care for Cambridgeshire and Peterborough NHS
Foundation Trust, the Autism Research Trust, the European Union
ASC-Inclusion Project, and Target Autism Genome. We thank Wei-Tsuen
Soong and Digby Tantam for valuable discussions.
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NR 175
TC 37
Z9 39
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0140-6736
EI 1474-547X
J9 LANCET
JI Lancet
PD MAR 8
PY 2014
VL 383
IS 9920
BP 896
EP 910
DI 10.1016/S0140-6736(13)61539-1
PG 15
WC Medicine, General & Internal
SC General & Internal Medicine
GA AC3FC
UT WOS:000332399500030
PM 24074734
ER
PT J
AU Blaser, E
Eglington, L
Carter, AS
Kaldy, Z
AF Blaser, Erik
Eglington, Luke
Carter, Alice S.
Kaldy, Zsuzsa
TI Pupillometry Reveals a Mechanism for the Autism Spectrum Disorder (ASD)
Advantage in Visual Tasks
SO SCIENTIFIC REPORTS
LA English
DT Article
ID LOCUS-COERULEUS; YOUNG-CHILDREN; PUPILLARY RESPONSES; SEARCH
PERFORMANCE; ATTENTION; COGNITION; ADOLESCENTS; DILATION; SUPERIOR;
AROUSAL
AB Research on the neural underpinnings of Autism Spectrum Disorder (ASD) has focussed primarily on impairments of social interaction and communication. Less is known though about the second diagnostic criterion of restricted behaviors and interests. Uniquely in this domain, alongside impairments stands an 'ASD advantage' characterised by superior performance on many visual tasks. We recently found that 2-year-olds with ASD dramatically outperform age-matched, typically developing controls on visual search. Here we use task-evoked, phasic pupil responses - a sensitive, involuntary measure of effort and a biomarker of the locus coeruleus-norepinephrine (LC-NE) system's modulation of attention - to isolate a causal factor: a 'hyperphasic' LC-NE system compels (here, advantageously) focussed attention. However, this focussed attention in other contexts may contribute to restricted behaviors and interests.
C1 [Blaser, Erik; Eglington, Luke; Carter, Alice S.; Kaldy, Zsuzsa] Univ Massachusetts, Dept Psychol, Boston, MA 02125 USA.
RP Blaser, E (reprint author), Univ Massachusetts, Dept Psychol, 100 Morrissey Blvd, Boston, MA 02125 USA.
EM erik.blaser@umb.edu
FU National Institutes of Health [2R15EY017985-2]; University of
Massachusetts Boston's Presidential Science and Technology Award
FX This research was supported by National Institutes of Health Grant
2R15EY017985-2 and by the University of Massachusetts Boston's
Presidential Science and Technology Award. We would like to thank
Catherine Kraper, Marisa Biondi and the members of the UMass Boston Baby
Lab for their help with data collection.
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NR 48
TC 4
Z9 4
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD MAR 7
PY 2014
VL 4
AR 4301
DI 10.1038/srep04301
PG 5
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AC2VP
UT WOS:000332374700001
PM 24603348
ER
PT J
AU Li, J
Zhu, LQ
Gummerum, M
AF Li, Jing
Zhu, Liqi
Gummerum, Michaela
TI The relationship between moral judgment and cooperation in children with
high-functioning autism
SO SCIENTIFIC REPORTS
LA English
DT Article
ID PROSOCIAL BEHAVIOR; MIND; EMPATHY; FRIENDSHIP; QUOTIENT; EMOTIONS;
ADULTS
AB This study investigated moral judgment in children with high-functioning autism and their cooperation in prisoner's dilemma game with partners of different moralities. Thirty-eight 6-to 12-year-old high-functioning autistic (HFA) children and 31 typically developing (TD) children were recruited. Children were asked to judge story protagonists' morality. After making this moral judgment correctly, they were asked to play with the morally nice and the morally naughty child in a repeated prisoner's dilemma game. Results showed that both HFA and TD children made correct moral judgments, and that HFA children might even have more rigid criteria for what constitutes morally naughty acts. HFA children's cooperation did not differ depending on the morality of the interaction partner, while TD children showed higher cooperation when interacting with the morally nice than the morally naughty child did. Thus, partner's morality did influence TD children's but not HFA children's subsequent cooperation.
C1 [Li, Jing; Zhu, Liqi] Chinese Acad Sci, Key Lab Behav Sci, Inst Psychol, Beijing 100864, Peoples R China.
[Gummerum, Michaela] Univ Plymouth, Sch Psychol, Plymouth PL4 8AA, Devon, England.
RP Zhu, LQ (reprint author), Chinese Acad Sci, Key Lab Behav Sci, Inst Psychol, Beijing 100864, Peoples R China.
EM zhulq@psych.ac.cn
FU National Nature Science Foundation of China [31300859, 30970911];
Scientific Foundation of Institute of Psychology, Chinese Academy of
Sciences [Y2CQ022005]; China 973 Program [2010CB8339004]; Chinese
Academy of Sciences [KJZD-EW-L04]
FX This project was supported by the National Nature Science Foundation of
China [31300859, 30970911], the Scientific Foundation of Institute of
Psychology, Chinese Academy of Sciences [Y2CQ022005], China 973 Program
[2010CB8339004] and Chinese Academy of Sciences project [KJZD-EW-L04].
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NR 46
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD MAR 7
PY 2014
VL 4
AR 4314
DI 10.1038/srep04314
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AC2WC
UT WOS:000332376000002
PM 24603775
ER
PT J
AU Proepper, C
Putz, S
Russell, R
Boeckers, TM
Liebau, S
AF Proepper, C.
Putz, S.
Russell, R.
Boeckers, T. M.
Liebau, S.
TI THE KV beta 2 SUBUNIT OF VOLTAGE-GATED POTASSIUM CHANNELS IS INTERACTING
WITH PROSAP2/SHANK3 IN THE PSD
SO NEUROSCIENCE
LA English
DT Article
DE kv-channel; Kv beta 2; beta-subunit; ProSAP2/Shank3; PSD; interaction
ID AXON INITIAL SEGMENT; BETA-SUBUNITS; ION CHANNELS; POSTSYNAPTIC DENSITY;
K+ CHANNELS; ARCHITECTURAL FRAMEWORK; SCAFFOLDING PROTEINS; EXCITATORY
SYNAPSES; CORTICAL-NEURONS; MAMMALIAN BRAIN
AB The postsynaptic density is an electron dense meshwork composed of a variety of molecules facilitating neuronal signal transmission. ProSAP2/Shank3 represents a crucial player at postsynaptic sites, assembling large multimeric platforms and anchoring numerous other molecules, thereby linking the functional synapse with the cytoskeleton. ProSAP2/Shank3 is also implicated in the pathogenesis of numerous diseases, including autism spectrum disorders. KvBeta2 (Kv beta 2) on the other hand serves as a regulatory subunit of voltage-gated potassium channels. Kv beta 2 is located at various sites in the neuron including the axon (binding to Kv1.2), the dendrites (binding to Kv4.2) and the synapse. Binding of Kv beta 2 to either Kv1.2 or Kv4 modulates not only the channel conformation but directs targeting of the channel protein complex to distinct loci within the cell. Thus an interaction between ProSAP2 and Kv beta 2 could have important roles at diverse cellular compartments and moreover during maturation stages. We report here on the direct protein-protein interaction of the postsynaptic density anchoring molecule ProSAP2 and the potassium channel subunit Kv beta 2, initially identified in a yeast-two-hybridscreen. Furthermore, we characterize this interaction at synapses using primary hippocampal neurons in vitro. (C) 2014 Published by Elsevier Ltd. on behalf of IBRO.
C1 [Proepper, C.; Putz, S.; Boeckers, T. M.; Liebau, S.] Univ Ulm, Inst Anat & Cell Biol, D-89069 Ulm, Germany.
[Russell, R.] Ulm Univ Hosp, Dept Internal Med 1, Ulm, Germany.
[Liebau, S.] Univ Tubingen, Inst Neuroanat, D-72074 Tubingen, Germany.
RP Liebau, S (reprint author), Univ Tubingen, Inst Neuroanat, Oesterbergstr 3, D-72074 Tubingen, Germany.
EM stefan.liebau@uni-tuebungen.de
FU Deutsche Forschungsgemeinschaft (DFG) [BO1718/4-1]; German Foundation
for Heart Research [F/34/11]; Boehringer-Ingelheim BIU [N5]; Helmholtz
Gesellschaft [VH-VI-510]; Else-Kroner-Fresenius-Stiftung [2011_A200];
BMBF (German MND-Net )
FX The authors thank Ursula Pika-Hartlaub and Sabine Seltenheim for
excellent technical assistance, This study was funded by the Deutsche
Forschungsgemeinschaft (DFG, SL & TMB BO1718/4-1), the German Foundation
for Heart Research (F/34/11; to S.L.), Boehringer-Ingelheim BIU (N5 to
S.L.), the Helmholtz Gesellschaft (VH-VI-510 to TMB and S.L.), the
Else-Kroner-Fresenius-Stiftung (2011_A200; to S.L.) and BMBF (German
MND-Net to TMB and S.L.).
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NR 64
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0306-4522
EI 1873-7544
J9 NEUROSCIENCE
JI Neuroscience
PD MAR 7
PY 2014
VL 261
BP 133
EP 143
DI 10.1016/j.neuroscience.2013.10.045
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AA4VT
UT WOS:000331095400013
PM 24211303
ER
PT J
AU Liu, L
Lei, J
Sanders, SJ
Willsey, AJ
Kou, Y
Cicek, AE
Klei, L
Lu, C
He, X
Li, MF
Muhle, RA
Ma'ayan, A
Noonan, JP
Sestan, N
McFadden, KA
State, MW
Buxbaum, JD
Devlin, B
Roeder, K
AF Liu, Li
Lei, Jing
Sanders, Stephan J.
Willsey, Arthur Jeremy
Kou, Yan
Cicek, Abdullah Ercument
Klei, Lambertus
Lu, Cong
He, Xin
Li, Mingfeng
Muhle, Rebecca A.
Ma'ayan, Avi
Noonan, James P.
Sestan, Nenad
McFadden, Kathryn A.
State, Matthew W.
Buxbaum, Joseph D.
Devlin, Bernie
Roeder, Kathryn
TI DAWN: a framework to identify autism genes and subnetworks using gene
expression and genetics
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism; Risk prediction; Gene discovery; Weighted gene co-expression
network analysis; Network; Hidden Markov random field; Neurite
extension; Neuronal arborization
ID DE-NOVO MUTATIONS; SPECTRUM DISORDERS; NEURITE OUTGROWTH; LARGE-SCALE;
PROTEIN; NEURONS; RISK; ABNORMALITIES; DATABASE; NETWORKS
AB Background: De novo loss-of-function (dnLoF) mutations are found twofold more often in autism spectrum disorder (ASD) probands than their unaffected siblings. Multiple independent dnLoF mutations in the same gene implicate the gene in risk and hence provide a systematic, albeit arduous, path forward for ASD genetics. It is likely that using additional non-genetic data will enhance the ability to identify ASD genes.
Methods: To accelerate the search for ASD genes, we developed a novel algorithm, DAWN, to model two kinds of data: rare variations from exome sequencing and gene co-expression in the mid-fetal prefrontal and motor-somatosensory neocortex, a critical nexus for risk. The algorithm casts the ensemble data as a hidden Markov random field in which the graph structure is determined by gene co-expression and it combines these interrelationships with node-specific observations, namely gene identity, expression, genetic data and the estimated effect on risk.
Results: Using currently available genetic data and a specific developmental time period for gene co-expression, DAWN identified 127 genes that plausibly affect risk, and a set of likely ASD subnetworks. Validation experiments making use of published targeted resequencing results demonstrate its efficacy in reliably predicting ASD genes. DAWN also successfully predicts known ASD genes, not included in the genetic data used to create the model.
Conclusions: Validation studies demonstrate that DAWN is effective in predicting ASD genes and subnetworks by leveraging genetic and gene expression data. The findings reported here implicate neurite extension and neuronal arborization as risks for ASD. Using DAWN on emerging ASD sequence data and gene expression data from other brain regions and tissues would likely identify novel ASD genes. DAWN can also be used for other complex disorders to identify genes and subnetworks in those disorders.
C1 [Liu, Li; Lei, Jing; Lu, Cong; Roeder, Kathryn] Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA.
[Sanders, Stephan J.; Willsey, Arthur Jeremy; State, Matthew W.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA USA.
[Sanders, Stephan J.; Willsey, Arthur Jeremy; Muhle, Rebecca A.; Noonan, James P.; State, Matthew W.] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA.
[Kou, Yan; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY USA.
[Kou, Yan; Ma'ayan, Avi] Icahn Sch Med Mt Sinai, Dept Pharmacol, New York, NY USA.
[Kou, Yan; Ma'ayan, Avi] Icahn Sch Med Mt Sinai, Syst Therapeut & Syst Biol Ctr New York, New York, NY USA.
[Cicek, Abdullah Ercument; He, Xin; Roeder, Kathryn] Carnegie Mellon Univ, Ray & Stephanie Lane Ctr Computat Biol, Pittsburgh, PA 15213 USA.
[Klei, Lambertus; Devlin, Bernie] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA USA.
[Li, Mingfeng; Muhle, Rebecca A.; Noonan, James P.; Sestan, Nenad] Yale Univ, Sch Med, Kavli Inst Neurosci, New Haven, CT USA.
[Li, Mingfeng; Sestan, Nenad; State, Matthew W.] Yale Univ, Sch Med, Dept Neurobiol, New Haven, CT USA.
[Muhle, Rebecca A.] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06510 USA.
[McFadden, Kathryn A.] Univ Pittsburgh, Sch Med, Dept Pathol, Pittsburgh, PA USA.
[State, Matthew W.] Yale Univ, Sch Med, Program Neurogenet, New Haven, CT USA.
[State, Matthew W.] Yale Univ, Sch Med, Dept Psychiat, New Haven, CT USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, Dept Psychiat, New York, NY USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, Dept Neurosci, New York, NY USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, Dept Genet & Genom Sci, New York, NY USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, Mindisch Child Hlth & Dev Inst, New York, NY USA.
RP Roeder, K (reprint author), Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA.
EM roeder@stat.cmu.edu
RI Liu, Li/G-1897-2015
FU National Institute of Mental Health [MH057881, MH100233]; Overlook
International Foundation; Simons Foundation; Seaver Foundation
FX This work was supported by National Institute of Mental Health grants
MH057881, MH100233, a gift from the Overlook International Foundation, a
grant from the Simons Foundation, and a grant from the Seaver
Foundation. We thank the members of the Devlin and Roeder labs for
thought-provoking discussion of the ideas presented here.
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NR 75
TC 9
Z9 9
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD MAR 6
PY 2014
VL 5
AR 22
DI 10.1186/2040-2392-5-22
PG 18
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF8LB
UT WOS:000334966200001
PM 24602502
ER
PT J
AU Trent, S
Fry, JP
Ojarikre, OA
Davies, W
AF Trent, Simon
Fry, Jonathan P.
Ojarikre, Obah A.
Davies, William
TI Altered brain gene expression but not steroid biochemistry in a genetic
mouse model of neurodevelopmental disorder
SO MOLECULAR AUTISM
LA English
DT Article
DE Acetylserotonin O-methyltransferase; COUMATE; Steroid sulphatase; 39;
(XO)-O-Y*
ID DEFICIT HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS; SULFATASE
INHIBITOR COUMATE; MESSENGER-RNA EXPRESSION; COPY NUMBER VARIATIONS;
ATTENTION-DEFICIT; NEUROACTIVE STEROIDS; AGGRESSIVE-BEHAVIOR; MELATONIN
SYNTHESIS; REGRESSIVE AUTISM
AB Background: The 39, X-Y* O mouse, which lacks the orthologues of the ADHD and autism candidate genes STS (steroid sulphatase) and ASMT (acetylserotonin O-methyltransferase), exhibits behavioural phenotypes relevant to developmental disorders. The neurobiology underlying these phenotypes is unclear, although there is evidence for serotonergic abnormalities in the striatum and hippocampus.
Methods: Using microarray and quantitative gene expression analyses, and gas chromatography-mass spectrometry, we compared brain gene expression and steroid biochemistry in wildtype (40, XY) and 39, XY* O adult mice to identify non-obvious genetic and endocrine candidates for between-group differences in behaviour and neurochemistry. We also tested whether acute STS inhibition by COUMATE in wildtype (40, XY) adult male mice recapitulated any significant gene expression or biochemical findings from the genetic comparison. Data were analysed by unpaired t-test or Mann Whitney U-test depending on normality, with a single factor of KARYOTYPE.
Results: Microarray analysis indicated seven robust gene expression differences between the two groups (Vmn2r86, Sfil, Pisd-ps1, Tagap1, C1qc, Metap1d, Erdr1); Erdr1 and C1qc expression was significantly reduced in the 39, XY* O striatum and hippocampus, whilst the expression of Dhcr7 (encoding 7-dehydrocholesterol reductase, a modulator of serotonin system development), was only reduced in the 39, X-Y* O hippocampus. None of the confirmed gene expression changes could be recapitulated by COUMATE administration. We detected ten free, and two sulphated steroids in 40, XY and 39, XY* O brain; surprisingly, the concentrations of all of these were equivalent between groups.
Conclusions: Our data demonstrate that the mutation in 39, X-Y* O mice: i) directly disrupts expression of the adjacent Erdr1 gene, ii) induces a remarkably limited suite of downstream gene expression changes developmentally, with several of relevance to associated neurobehavioural phenotypes and iii) does not elicit large changes in brain steroid biochemistry. It is possible that individuals with STS/ASMT deficiency exhibit a similarly specific pattern of gene expression changes to the 39, X-Y* O mouse, and that these contribute towards their abnormal neurobiology. Future work may focus on whether complement pathway function, mitochondrial metabolism and cholesterol biosynthesis pathways are perturbed in such subjects.
C1 [Trent, Simon; Davies, William] Cardiff Univ, Neurosci & Mental Hlth Res Inst, Cardiff CF10 3AX, S Glam, Wales.
[Fry, Jonathan P.] UCL, Dept Neurosci Physiol & Pharmacol, London, England.
[Ojarikre, Obah A.] Natl Inst Med Res, MRC, London NW7 1AA, England.
[Davies, William] Cardiff Univ, MRC, Ctr Neuropsychiat Genet & Genom, Cardiff CF10 3AX, S Glam, Wales.
[Davies, William] Cardiff Univ, Sch Psychol, Cardiff CF10 3AT, S Glam, Wales.
RP Davies, W (reprint author), Cardiff Univ, Neurosci & Mental Hlth Res Inst, Cardiff CF10 3AX, S Glam, Wales.
EM daviesw4@cardiff.ac.uk
RI Trent, Simon/B-4228-2010
OI Trent, Simon/0000-0001-9563-4281
FU Medical Research Council United Kingdom (MRC UK) New Investigator
Research [G0900636]; Research Councils UK Fellowship [U117532009]
FX The work was supported by a Medical Research Council United Kingdom (MRC
UK) New Investigator Research Grant to WD (G0900636), by a Research
Councils UK Fellowship to WD, and by MRC UK funding to OAO (U117532009).
The funding bodies had no role in the design, collection, analysis or
interpretation of data, nor in the writing of the manuscript, nor in the
decision to submit the manuscript for publication. COUMATE was a kind
gift to JPF from Dr Laurent Nicolas.
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NR 45
TC 3
Z9 3
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD MAR 6
PY 2014
VL 5
DI 10.1186/2040-2392-5-21
PG 11
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4XR
UT WOS:000334718400001
PM 24602487
ER
PT J
AU Jacquemont, S
Coe, BP
Hersch, M
Duyzend, MH
Krumm, N
Bergmann, S
Beckmann, JS
Rosenfeld, JA
Eichler, EE
AF Jacquemont, Sebastien
Coe, Bradley P.
Hersch, Micha
Duyzend, Michael H.
Krumm, Niklas
Bergmann, Sven
Beckmann, Jacques S.
Rosenfeld, Jill A.
Eichler, Evan E.
TI A Higher Mutational Burden in Females Supports a "Female Protective
Model" in Neurodevelopmental Disorders
SO AMERICAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
ID COPY-NUMBER VARIATION; AUTISM SPECTRUM DISORDERS; DE-NOVO MUTATIONS;
CLINICAL-SIGNIFICANCE; CNVS; IDENTIFICATION; MICRODELETION; VARIANTS;
CHILDREN; BEHAVIOR
AB Increased male prevalence has been repeatedly reported in several neurodevelopmental disorders (NDs), leading to the concept of a "female protective model." We investigated the molecular basis of this sex-based difference in liability and demonstrated an excess of deleterious autosomal copy-number variants (CNVs) in females compared to males (odds ratio [OR] = 1.46, p = 8 x 10(-10)) in a cohort of 15,585 probands ascertained for NDs. In an independent autism spectrum disorder (ASD) cohort of 762 families, we found a 3-fold increase in deleterious autosomal CNVs (p = 7 x 10(-4)) and an excess of private deleterious single-nucleotide variants (SNVs) in female compared to male probands (OR = 1.34, p = 0.03). We also showed that the deleteriousness of autosomal SNVs was significantly higher in female probands (p = 0.0006). A similar bias was observed in parents of probands ascertained for NDs. Deleterious CNVs (>400 kb) were maternally inherited more often (up to 64%, p = 10(-15)) than small CNVs < 400 kb (OR = 1.45, p = 0.0003). In the ASD cohort, increased maternal transmission was also observed for deleterious CNVs and SNVs. Although ASD females showed higher mutational burden and lower cognition, the excess mutational burden remained, even after adjustment for those cognitive differences. These results strongly suggest that females have an increased etiological burden unlinked to rare deleterious variants on the X chromosome. Carefully phenotyped and genotyped cohorts will be required for identifying the symptoms, which show gender-specific liability to mutational burden.
C1 [Jacquemont, Sebastien] Univ Lausanne, Univ Lausanne Hosp, Serv Med Genet, CH-1011 Lausanne, Switzerland.
[Coe, Bradley P.; Duyzend, Michael H.; Krumm, Niklas; Eichler, Evan E.] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA.
[Hersch, Micha; Bergmann, Sven] Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland.
[Hersch, Micha; Bergmann, Sven; Beckmann, Jacques S.] Swiss Inst Bioinformat, CH-1015 Lausanne, Switzerland.
[Rosenfeld, Jill A.] PerkinElmer Inc, Signature Genom Labs LLC, Spokane, WA 99207 USA.
[Eichler, Evan E.] Howard Hughes Med Inst, Chevy Chase, MD USA.
RP Jacquemont, S (reprint author), Univ Lausanne, Univ Lausanne Hosp, Serv Med Genet, CH-1011 Lausanne, Switzerland.
EM sebastien.jacquemont@chuv.ch; eee@gs.washington.edu
RI Beckmann, Jacques/A-9772-2008
OI Beckmann, Jacques/0000-0002-9741-1900
FU Fond de Releve Academique, Universitede Lausanne; Swiss National Science
Foundation [PP00P3_144902]; Simons Foundation Autism Research Initiative
[137578, 191889]; National Institutes of Health [MH101221]; Novartis
Pharma AG
FX This work was supported by the Fond de Releve Academique, Universitede
Lausanne (S.J.), Swiss National Science Foundation (PP00P3_144902),
Simons Foundation Autism Research Initiative (137578 and 191889 to E. E.
E.), and National Institutes of Health MH101221 (E. E. E.). E. E. E. is
an investigator of the Howard Hughes Medical Institute, is on the
scientific advisory board (SAB) of SynapDx Corp., and was an SAB member
of Pacific Biosciences Inc. (2009-2013) and DNAnexus Inc. (2011-2013).
J.R. is an employee of Signature Genomic Laboratories, a subsidiary of
PerkinElmer Inc. S.J. has acted as a consultant for Novartis Pharma AG
and has received grants for the clinical investigation of mavoglurant.
We thank all families at the participating Simons Simplex Collection
(SSC) sites and the principal investigators (A. Beaudet, R. B., J.
Constantino, E. Cook, E. Fombonne, D. Geschwind, E. Hanson, D. Grice, A.
Klin, R. Kochel, D. Ledbetter, C. Lord, C. Martin, D. Martin, R. Maxim,
J. Miles, O. Ousley, K. Pelphrey, B. Peterson, J. Piggot, C. Saulnier,
M. State, W. Stone, J. Sutcliffe, C. Walsh, Z. Warren, and E. Wijsman).
We acknowledge M. State and the SSC Genetics Consortium for providing
Illumina genotyping and T. Lehner and the Autism Sequencing Consortium
for data exchange among the participating groups. This study used data
generated by the Wellcome Trust Case Control Consortium. A full list of
the investigators who contributed to data generation is available at
http://www.wtccc.org.uk/. We are grateful for manuscript preparation
from T. Brown and helpful discussion from M. Kircher and Eichler lab
members.
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NR 39
TC 27
Z9 28
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0002-9297
EI 1537-6605
J9 AM J HUM GENET
JI Am. J. Hum. Genet.
PD MAR 6
PY 2014
VL 94
IS 3
BP 415
EP 425
DI 10.1016/j.ajhg.2014.02.001
PG 11
WC Genetics & Heredity
SC Genetics & Heredity
GA AC6DK
UT WOS:000332611400015
PM 24581740
ER
PT J
AU Stoesz, BM
Jakobson, LS
AF Stoesz, Brenda M.
Jakobson, Lorna S.
TI Developmental changes in attention to faces and bodies in static and
dynamic scenes
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE attention; cognitive load; development; dynamic faces; eye-tracking;
motion
ID FACIAL EXPRESSIONS; SOCIAL ATTENTION; GAZE AVERSION; EYE-TRACKING;
INFANTS; CHILDREN; CAPTURE; SPEECH; RECOGNITION; AUTISM
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C1 [Stoesz, Brenda M.; Jakobson, Lorna S.] Univ Manitoba, Dept Psychol, Winnipeg, MB R3T 2N2, Canada.
RP Stoesz, BM (reprint author), Univ Manitoba, Dept Psychol, 66 Chancellors Cir, Winnipeg, MB R3T 2N2, Canada.
EM umstoes3@myumanitoba.ca; lorna.jakobson@umanitoba.ca
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NR 71
TC 2
Z9 2
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD MAR 6
PY 2014
VL 5
AR 193
DI 10.3389/fpsyg.2014.00193
PG 9
WC Psychology, Multidisciplinary
SC Psychology
GA AC8KU
UT WOS:000332782700001
PM 24639664
ER
PT J
AU Kim, YR
Kim, CH
Park, JH
Pyo, J
Treasure, J
AF Kim, Youl-Ri
Kim, Chan-Hyung
Park, Jin Hong
Pyo, Jimin
Treasure, Janet
TI The Impact of Intranasal Oxytocin on Attention to Social Emotional
Stimuli in Patients with Anorexia Nervosa: A Double Blind within-Subject
Cross-over Experiment
SO PLOS ONE
LA English
DT Article
ID BORDERLINE PERSONALITY-DISORDER; EATING-DISORDERS; FACIAL EXPRESSIONS;
BODY DISSATISFACTION; ANGER; METAANALYSIS; FACES; ANXIETY; AUTISM;
THREAT
AB Background and aim: Social factors may be of importance causally and act as maintenance factors in patients with anorexia nervosa. Oxytocin is a neuromodulatory hormone involved in social emotional processing associated with attentional processes. This study aimed to examine the impact of oxytocin on attentional processes to social faces representing anger, disgust, and happiness in patients with anorexia nervosa.
Method: A double-blind, placebo-controlled within-subject crossover design was used. Intranasal oxytocin or placebo followed by a visual probe detection task with faces depicting anger, disgust, and happiness was administered to 64 female subjects: 31 patients with anorexia nervosa and 33 control students.
Results: Attentional bias to the disgust stimuli was observed in both groups under the placebo condition. The attentional bias to disgust was reduced under the oxytocin condition (a moderate effect in the patient group). Avoidance of angry faces was observed in the patient group under the placebo condition and vigilance was observed in the healthy comparison group; both of these information processing responses were moderated by oxytocin producing an increase in vigilance in the patients. Happy/smiling faces did not elicit an attentional response in controls or the patients under either the placebo or oxytocin conditions.
Conclusion: Oxytocin attenuated attentional vigilance to disgust in patients with anorexia nervosa and healthy controls. On the other hand, oxytocin changed the response to angry faces from avoidance to vigilance in patients but reduced vigilance to anger in healthy controls. We conclude that patients with anorexia nervosa appear to use different strategies/circuits to emotionally process anger from their healthy counterparts.
C1 [Kim, Youl-Ri; Park, Jin Hong; Pyo, Jimin] Inje Univ, Seoul Paik Hosp, Dept Neuropsychiat, Seoul, South Korea.
[Kim, Chan-Hyung] Yonsei Univ, Severance Mental Hosp, Dept Psychiat, Coll Med, Gyeonggi Do, South Korea.
[Park, Jin Hong] Carleton Coll, Dept Psychol, Northfield, MN 55057 USA.
[Treasure, Janet] Kings Coll London, Dept Psychol Med, Sect Eating Disorders, Inst Psychiat, London WC2R 2LS, England.
RP Kim, YR (reprint author), Inje Univ, Seoul Paik Hosp, Dept Neuropsychiat, Seoul, South Korea.
EM youlri.kim@paik.ac.kr
FU National Research Foundation of Korea [2011-0030914]; National Institute
for Health Research (NIHR) Mental Health Biomedical Research Centre at
South London; National Institute for Health Research (NIHR) Mental
Health Biomedical Research Centre at Maudsley National Health Service
(NHS) Foundation Trust; National Institute for Health Research (NIHR)
Mental Health Biomedical Research Centre at King's College London
FX This study was supported under the framework of the international
cooperation program managed by the National Research Foundation of Korea
(2011-0030914) to Youl-Ri Kim. Janet Treasure is in part funded by the
National Institute for Health Research (NIHR) Mental Health Biomedical
Research Centre at South London, and Maudsley National Health Service
(NHS) Foundation Trust and King's College London. The views expressed
are those of the author(s) and not necessarily those of the NHS, the
NIHR or the Department of Health. In addition the Swiss Anorexia
Foundation contributed to this work. The funders had no role in study
design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 69
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD MAR 6
PY 2014
VL 9
IS 3
AR e90721
DI 10.1371/journal.pone.0090721
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AC4ID
UT WOS:000332483600076
PM 24603863
ER
PT J
AU Gandhi, RM
Kogan, CS
Messier, C
AF Gandhi, Reno M.
Kogan, Cary S.
Messier, Claude
TI 2-Methyl-6-(phenylethynyl) pyridine( MPEP) reverses maze learning and
PSD-95 deficits in Fmr1 knock-out mice
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE fragile X syndrome; Hebb-Williams mazes; 2-methyl-6-(phenylethynyl)
pyridine; post-synaptic density-95; Western blot
ID FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; RECEPTOR-DEPENDENT
TRANSLATION; MGLUR5 ANTAGONIST MPEP; MOUSE MODEL; AMPA RECEPTOR;
SYNAPTIC PLASTICITY; MESSENGER-RNAS; SPATIAL MEMORY; PHARMACOLOGICAL
RESCUE
AB Fragile X Syndrome (FXS) is caused by the lack of expression of the fragile X mental retardation protein (FMRP), which results in intellectual disability and other debilitating symptoms including impariment of visual-spatial functioning. FXS is the only single-gene disorder that is highly co-morbid with autism spectrum disorder and can therefore provide insight into its pathophysiology. Lack of FMRP results in altered group I metabotropic glutamate receptor (mGluR) signaling, which is a target for putative treatments. The Hebb-Williams (H-W) mazes are a set of increasingly complex spatial navigation problems that depend on intact hippocampal and thus mGluR-5 functioning. In the present investigation, we examined whether an antagonist of mGluR-5 would reverse previously described behavioral deficits in fragile X mental retardation 1 knock-out (Fmr1 KO) mice. Mice were trained on a subset of the H-W mazes and then treated with either 20 mg/kg of an mGluR-5 antagonist, 2-Methyl-6(phenylethynyl) pyridine (MPEP; n = 11) or an equivalent dose of salline (n = 1) prior of running test mazes. Latency and errors were dependent variables recorded during the test phase. Immediately after completing each test, marble-burying behavior was assessed, which confirmed that the drug treatment was pharmacologically active during maze learning. Although latency was not statistically different between the groups, MPEP treated Fmr1 KO mice made significantly fewer errors on mazes deemed more difficult suggesting a reversal of the behavioral deficit. MPEP treated mice were also less perseverative and impulsive when navigating mazes. Furthermore, MPEP treatment reversed post-synaptic density-95 (PSD-95) protein deficits in Fmr1 KO treated mice, whereas levels of a control protein (beta-tubulin) remained unchanted. These data further valildate MPEP as a potentially beneficial treatment for FXS. Our findings also suggest that adapted H-W mazes may be a useful tool to document alternations in behavioral functioning following pharmacological intervention in FXS.
C1 [Gandhi, Reno M.; Kogan, Cary S.; Messier, Claude] Univ Ottawa, Sch Psychol, Ottawa, ON K1N 6N5, Canada.
RP Kogan, CS (reprint author), Univ Ottawa, Sch Psychol, Vanier Bldg,136 Jean Jacques Lussier Pvt, Ottawa, ON K1N 6N5, Canada.
EM ckogan@uottawa.ca
RI Messier, Claude/A-2322-2008
OI Messier, Claude/0000-0002-4791-1763
FU Natural Sciences and Engineering Research Council of Canada (NSERC);
Canadian Institutes of Health Research (CIHR); University of Ottawa
FX This work was supported by a Natural Sciences and Engineering Research
Council of Canada (NSERC) grant to Cary S. Kogan, a Doctoral Research
Award to Reno M. Gandhi by the Canadian Institutes of Health Research
(CIHR) and the University of Ottawa. The authors would like to thank
Drs. Dwayne Schindler and Lindsey Macleod for their advice regarding
statistical analyses and recording of the behavioral data, respectively.
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TC 2
Z9 2
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD MAR 6
PY 2014
VL 8
AR 70
DI 10.3389/fncel.2014.00070
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AC4EC
UT WOS:000332472500001
PM 24701200
ER
EF