Speech and Language Profiling in Twins with Lowe Syndrome

Abstract

Lowe syndrome is a very rare syndrome. The prevalence rate of this syndrome is 1 in 500,000. This syndrome is considered to be an autosomal recessive syndrome and only males are affected. Cataract is considered to be the most common symptom of this syndrome, and is manifested in the early years of child’s life. The other signs seen in children with Lowe syndrome include short stature, dental cysts, rickets, increased vulnerability to bone fractures and degenerative joint disease. Speech and language profiling has not been reported in the children with Lowe syndrome previously in literature. The present study is one such attempt to profile the speech and language deficits. Profiling was carried out on twins aged 5.8 years. The diagnosis of Lowe syndrome was done when the children were 6 months old. The elder of the twins was 3 minutes older than the younger. Profiling was carried out in terms of the phonological deficits and the linguistic deficits exhibited by these children. The younger child presented with a relatively better speech and language profile compared to the older child.