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العنوان
CONTRIBUTION OF SOME ENVIRONMENTAL AND GENETIC FACTORS IN THE ETIOLOGY OF AUTISM\
الناشر
Ain Shams university.
المؤلف
Mohamed ,Rasha Rashad .
هيئة الاعداد
مشرف / MOHAMED ABD EL ADEL EL SAWY,
مشرف / Olweya Abd El Baky Mohamed
مشرف / Mohamed Sayed Salama
مشرف / Ramzy El Baroudy Nageeb
الموضوع
AUTISM. GENETIC FACTORS. SOME ENVIRONMENTAL
تاريخ النشر
2011
عدد الصفحات
p.:163
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
الطب (متفرقات)
تاريخ الإجازة
1/1/2011
مكان الإجازة
جامعة عين شمس - معهد البيئة - Environmental Medical Science
الفهرس
Only 14 pages are availabe for public view

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Abstract

Autism is a neurodevelopmental behavioral disorders usually presented before 36 months characterized by impairment of social contact and communication, restricted and repetitive interest and behaviors.
In the last 20 years, there had been an increase in the incidence of autism, unexplained by genetics alone, nor can this increase be secondary to only increased awareness.
The causative factors of autism are biological in nature and involve the brain. It is believed that a combination of genetic factors, viral factors, prenatal complication and post natal defects contribute to the development of autism.
About 5-10% of individuals with autism have secondary autism in which an environmental agent, chromosomal abnormality, or single gene disorder can be identified examples of such lesions tuberous sclerosis, fragile x, phenyketonuria, rett syndrome.
Environmental influences in autism can be infections, general pre and perinatal factors, family history and drug and chemical exposures. A good example of this is provided by the genetic condition phenylketonuria.
Over the past two decades, however, systematic family and twin studies have shown that genetic factors play a crucially important role in causing apparently idiopathic form of the condition.
This conclusion is supported by the fact that about 3% of siblings of a child with autism also develop autism. It is thought that this 3% rate is higher in real. This is because the prevalence catenation simply counts the number of siblings with autism, and does not take in account the stoppage phenomenon where by parents with a child with severe leaning disabilities choose not to have further children.
As yet, research in autism has failed to identify any major environmental factor that contributes to causation.
This study has been conducted on 44 children with autism and 44 controls. All were subjected to thorough history taking, Cytogenetic analysis, MSP For FMD1 locus, Biocard Celiac Test and Quantase Neonatal Phenylalarnine Screening Assay.
We found that:
Sociodemographic factors:
They were stastically insignificant. Our patients (86.4%) were males, 81.8% of mothers in the cases were between age group 20-30 while 59.1% of the controls were in the same age group. More than half (54.5%) of the cases fathers were in the 30-40 age group while 63.6% of the controls fathers were in the same age group. For education, the highest percentage for parents in both groups was the university education.
Maternal occupation highly demonstrated in the sample was the house wives and for the paternal side they worked as employee. More than 90% of the studied groups were urbans.
Familial Factors:
Consanguinity and the order of child birth in the family seemed to be insignificantly different between both groups. On the other hand positive family history was significant between the two groups though no relation between positive family history and the degree of severity of the disease was found.
Two of the cases were brothers and both suffered from autism. Another case had a first degree cousin (on the mother’s side) who also had autism. Another two cases had relatives with learning disabilities and only one mother suffered depression and was on treatment.
Ante Natal Factors:
Only one mother in the case group suffered from toxoplasmosis while two mothers did in the control group. One quarter of the cases mothers took drugs while 15.9% received it in the control group. For Hypothyroidism, one mother suffered from it in the case group. So from our study ante natal factors were not risk factor for autism.
Natal and Post natal factors:
More than half (59.1%) of the cases mothers had delivered by caesarean section while equal percent (43.2%) of mothers in the case group was delivered by normal delivery or caesarean section. yet it seemed to be insignificant. Neonatal jaundice was also found insignificant. As regard the MMR Vaccine, both groups were 100% vaccinated.
Gluten sensitivity test detected only one positive case while it came negative for the rest of cases as well as the control group. So from study, natal and post natal factors have no role in autism.
Genetic Factors:
Only 4 autistic children were found to have border line results when tested for phenylketonuria which is not considered as a risk factor for autism.
Cytogenetic analysis and Molecular analysis for FMR1 gene were negative for both case and control group. It seems that genetic factors are insignificant in our study.
Psychometric evaluation:
CARS (childhood autism rating scale)
Most of our patients are with mild degree of autism (cars 31-34) about 59.1%.