Neurodevelopmental Outcome in Children with Down Syndrome

Abstract

Background: Down syndrome is the most common identifiable genetic cause of intellectual disability and birth defects. Although intellectual disability and hypotonia are present in virtually all individuals with DS, the expression of other DS-associated congenital and acquired medical complications is variable. Aim of the work: The aim of the study is to determine the neurodevelopmental, behavioral, mentality outcome and associated neurological complications in children with Down Syndrome. Methods: Forty children with Down syndrome were enrolled from June 2016 to March 2017 in the genetic clinic in Fayoum University Hospital. For all, EEG study was done; evaluation using Portage program, and serum TSH, free T3and free T4 was measured. For selected cases fundus examination, ABR, and MRI was done. Results: There was significant developmental delay in motor abilities, self-help, social, cognitive, communication, and language skills in our cases. There was a significant relation between motor development, self-help skills, communication skills, language development and head circumference; however, no significant relation was found between cognitive skills and head circumference. There was a significant relation between delay in cognitive skills and EEG abnormalities. There was no significant relation between cytogenetic type of Down Syndrome, presence or absence of cardiac abnormalities, and portage score. Conclusion: All items of developmental outcome were affected in Down Syndrome. The Portage scores (in motor development, self-help skills, communication skills, language development) were affected by microcephaly and EEG abnormalities were found in cases with cognitive disabilities.