We surveyed 64 individuals with the diagnosis of Brachmann-de Lange syndrome (BDLS) to determine the natural course and cause of the disorder. The 64 individuals were ascertained through membership in a national organization, the Cornelia de Lange…
BACKGROUND: The aim of the present study was to show the results of an overnight polysomnography in a cohort of 9 children (7 females and 2 males) with achondroplasia, aged between 1 and 12 years (5.56+/-4.7 years). All of the children carried the…
Few studies have examined the extent to which functional hand-use may be taught to girls with Rett syndrome after those skills have been lost. In this investigation, five females with classic Rett syndrome taught to feed themselves using a method of…
Purpose: Early screening and intervention for dysphagia is crucial to offset potential outcomes such as compromised nutrition or reduced respiratory function. Current paediatric dysphagia screening tests are subjective with poor sensitivity and…
BACKGROUND: Tuberous sclerosis complex is a multisystem genetic disorder with a range of physical manifestations that require evaluation, surveillance, and management. Individuals with tuberous sclerosis complex also have a range of behavioral,…
