الفهرس 
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Abstract
Autism Spectrum Disorder (ASD), sometimes referred to as “autism”, is “a chronic disorder whose symptoms include failure to develop normal social relations with other people, impaired development of communicative ability, lack of imaginative ability, and repetitive, stereotyped movements”.
Individuals with autism disorder have markedly different social and emotional actions and reactions than non-autistic individuals. ASD also has an effect on IQ.
In order for an individual to be diagnosed with ASD, he or she must be several qualifications as stated in the Diagnostic and Statistical Manual of Mental Disorders (DSM-V). These include a qualitative impairment in social interaction and communication, restricted repetitive and stereotyped patterns of behaviors, interests, and activities, and delays in functioning. Diagnosis also requires that Rett’s Disorder and Childhood Disintegrative Disorder (which have similar symptoms) do not better account for the behaviors.
There is no single cause of autism. They have already identified over 100 genes connected to the risk of autism. However, there is not just one mutation in the majority of cases but rather a complex and variable combination of environmental and genetic risk factors which have an influence over early brain development.
Environmental factors these may play a role before and during childbirth. Those with the greatest evidence of an increased risk of autism are ,Advanced age of parents at the time of conception (both the mother and the father),Illnesses suffered by the mother during pregnancy that trigger important immune responses, Extreme prematurity, with a very low birth weight, Complications during childbirth, particularly any that involve a reduction in the oxygen supply reaching the baby’s brain, Treatment for epilepsy (treatment with valproic acid during pregnancy), Exposure to high levels of pesticides or air pollution in pregnant women.
Treatment for the symptoms of ASD have emerged in the past decades. One of the most widely-used forms of behavior therapy for individuals with ASD is Applied Behavior Analysis (ABA). Because of its high effectiveness, ABA has helped individuals with ASD to function both personally and in society and it remains one of the most popular and well-researched forms of therapy for ASD.
The role of medication in ASD treatment has largely been to improve the effectiveness of behavior therapy. It is possible that individuals with ASD are deficient in certain vitamins and minerals. Two of the most commonly taken supplements for ASD individuals are magnesium and Vitamin B. Specific diets may also be implemented to improve the well being of the individual.
The present study was designed to assess the clinical and laboratory characteristics and risk factors of ASD. Our study included 1650 autistic patients diagnosed on the basis of criteria of autistic disorders as defined in International Classification of Diseases, 10th edition (ICD-10) through a retrospective descriptive cohort study. The study was carried out in the Pediatric Department and Psychiatry Outpatient Clinic at Sohag University Hospital, Egypt.
This study shows that males represented 75.3% of the studied patients. Age at first diagnosis is important as research has shown that early recognition and initiation of early intervention results in optimal outcome. Age at presentation ranged from one month to 252 months with mean ± SD of 44.496 ± 28.435.
Regarding presenting complaints, larger percentage of patients presented by DLD (82.1%) followed by hyperactivity/poor attention (57.3%), GDD (12.1%), stereotyping (8.8%) and social isolation (6.6%). Convulsions and delayed motor development were the presenting complaints in 3.2% and 0.4% of the studied patients respectively. About 69.6% presented with multiple complaints while 30.4% had only single complaint on presentation. Regarding neurological examination, data was available in 1614 patients. Out of them, 88.7% had normal examination, and 9.1% had hypotonia.
The results of IQ of the studied patients were available in 241 patients with a range from 25 to 100 with mean IQ of 62.98. Our CARS data were available in 920 of the studied patients (n=920) and showed a mean of 30.064 with a range from 20 to 60.
In our study, data of CT scan was available in 384 patients. About 63.8% of them had normal CT. Brain atrophy was found in 26% of them. MRI findings were available in 211 patients. Normal MRI was reported in 47.4% of the patients while23.2% of them had brain atrophy.
Data of EEG scan was available in 1268 patients. Out of them, 46.2%, had generalized epileptic discharge, 16.2% had focal epileptic discharge and 37.6%, had normal EEG.
Data of metabolic screen was available in 247 patients. Elevated level of phenylalanine (PKU) was found in 39 patients (15.8%) and elevated ammonia was found in 18 patients (7.3%) while 181 patients (73.3%) had normal metabolic screen. Hormonal profile was available in 22 patients; out of them 21 patients (95.5%) had normal hormonal profile.
In our study, associated risk factors of autism were reported in 332 patients. Hearing problems were found in 25.9%, neonatal asphyxia in 15.9%, phenylketonuria was found in 11.8% of those patients. Epilepsy was found in 7.8%, hyperammonemia in5.3%, cerebral malformation in 5.1%, down syndrome in 3.3% and tuberous sclerosis in2.8%.
Conclusion and recommendations
Our study confirmed diagnosis of ASD in children affects patients, family and the community at large. Knowledge of ASD is crucial for health professionals as its prevalence is increasing globally. This study reviews clinical and laboratory characteristics of a cohort of children with ASD. It is hoped that this study can contribute data to encourage a largescale national registry and resource allocation with programme planning in the future.
Other additional data which may confer benefit in future studies would include details on age at first parental concern and diagnosis made and follow up of this cohort till secondary school years.
Further studies replicating our results are recommended involving a larger number of ASD children. Future research on this topic in Egypt must focus on the implications of the study results over the management of ASD.