الفهرس 
Overview of Down SyndromeOnly 14 pages are availabe for public view
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Abstract
Down syndrome is one of the most common chromosomal abnormalities in humans, occurring in about one per 1000 babies born each year. Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability. The extra chromosome occurs by random chance. Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing, or after birth by direct observation and genetic testing. They have an increased risk of a number of other health problems, including congenital heart disease, epilepsy, leukemia, thyroid diseases, and mental disorders.
This cross sectional study aimed to determine the neurodevelopmental, behavioral, mentality outcome and associated complications in children with Down syndrome. The study included 40 children with Down syndrome. Full history taking will focus on maternal age, similar condition, antenatal risk factor, and recurrent infections. Clinical assessment as regard general examination focusing on congenital anomalies, full neurological assessment, EEG was done to all patients.
All of them were evaluated by Portage program to determine physical age, age in self- help, social age, cognitive age and communication age. TSH Serum free T3 and free T4 were measured for detection of hypo-or hyperthyroidism.
In this study, The most common cytogenetic type was non-disjunction type (92.5%), The most frequent associated congenital anomaly was CHD in 50% of cases, ASD was the commonest congenital heart disease, regarding other congenital anomalies 10% had anomalies in the form of umbilical hernia (2.5%), undescended testis (2.5%), imperforate anus (2.5%), and megacolon (2.5%).
Nystagmus was found in 15%, decreased hearing acuity was detected in 7.5%, 7.5% had head nodding. Hyperactivity was reported in 42.5% of cases. Repeated hospital admission was detected in 52.5%, Hypothyroidism was reported in one case (2.5%).
Regarding electroencephalogram, 70% of children had normal EEG, 17.5% showed encephalopathy, 7.5% showed posterior slowing, 2.5% showed focal epileptogenic activity, and 2.5% picture of brain insult.
MRI was done for cases with nystagmus or head nodding. It showed that 2 patients (28.6%) had atrophic changes mainly central with ventricular dilatation, 2 patients (28.5%) had atrophic changes with prominent sylvian fissure, and 3 patients (42.8%) had normal MRI study.
In this study, the results of the Portage program showed significant difference, the mean score of motor development in children with Down Syndrome was 51.80±20.97 compared to score of success80- 100%, the mean score of self-help skills was 49.70±20.59 compared to score of success 80- 100%, the mean score of communication skills in children with Down Syndrome was 64.38±17.46 compared to score of success 75-100%, the mean score of cognitive skills in children with Down Syndrome was 39.17±18.76 compared to score of success 100%, the mean score of language development in children with Down Syndrome was 46.80±20.51 compared to score of success 100%.
In this study, children with Down Syndrome show highest score in communication skills and lowest score in cognitive skills
There was a significant relation between Portage score in motor development, self-help skills, communication skills, language development and head circumference; however, no significant relation was found between portage score in cognitive skills and head circumference.