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العنوان
Genetic Study and Cytogenetic
Investigation of Autistic
Egyptian Children /
المؤلف
Habashy, Neveen Ezy Abd Elaziz.
هيئة الاعداد
باحث / Neveen Ezy Abd Elaziz Habashy
مشرف / Mohammad
مشرف / Farida El-Baz
مناقش / Heba Salah Abd
مناقش / Reham Mohamed
تاريخ النشر
2015.
عدد الصفحات
219p. :
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
علم الوراثة (السريرية)
تاريخ الإجازة
1/1/2015
مكان الإجازة
جامعة عين شمس - كلية الطب - الاطفال
الفهرس
Only 14 pages are availabe for public view

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from 219

Abstract

Summary
The word autism is used as a shortened term for the
autistic syndromes. Autism is referred to as a severe
neurodevelopmental disorder of children marked by severe
difficulties in communication with other people, impairment of
language, social interaction and abnormal behavior.
This study has been conducted on 30 children with
autism. All patients were subjected to history taking, clinical
examination, psychiatric evaluation (IQ assessment, DSM-IV
criteria, CARS), electroencephalogram, audiological assessment
and genetic evaluation through high resolution karyotyping.
We found that:
I. Epidemiological:
1. Age of onset:
Most of our patients condition started at 24-36 months,
about 56.7% of cases manifested by delayed speech which is the
most common symptom of autism.
2. SEX:
Males are affected more than females as 76.7% of autistic
patients were males and 23% were females.
Consanguinity and positive family history of autism:
Most of our patients were non consanguineous parents
with negative family history of autism.
Risk factors that may have role in autism:
1. Antenatal factors:
Only one case had history of drug intake (progestin), two
cases with Anti-D injection during pregnancy and two cases
with history of diabetes mellitus.
There was no history of STORCH infection or exposure
to radiation.
2. Role of natal and postnatal factors as risk factor for
autism:
Sixteen cases were delivered by cesarean section, fourteen
cases were delivered by normal vaginal delivery, seven cases
had history of jaundice and four cases had history of respiratory
distress.
About 47% had no history of respiratory distress, no
history of jaundice or respiratory resuscitation.
So from our study, natal and postnatal factors had no role
as a risk factor of autism
3. Motor development:
Most of autistic children in our study had normal motor
development. Seventy three percent with history of normal head
support at 3-5 months, sitting at age of 6-8 months and normal
walking at 12-15 months.
So delayed motor milestones not specific feature of
autistic children.
4. Nutrition as a risk factor for autism:
Nineteen cases of our autistic patients were breast feeders
and five cases had artificial feeding. So there is no evidence to
approve that type of feeding is a risk factor for autism.
5. Vaccination and extra vaccination as a risk factor for
autism:
Most of our patients about 100% had taken MMR vaccine
and 13.3% had taken extra vaccination in the form of meningitis
vaccine.
6. Speech development:
Fourteen cases of our autistic patients cannot say words
although their audiological assessment were normal
II. Psychometric evaluation:
1. IQ assessment ( intelligent quotient)
Most of our patient about fifteen cases had mild mental
retardation and one case with normal IQ.
2. CARS(childhood autism rating scale)
Eleven cases of our patients had severe degree of autism
(CARS=35-40) and ten cases had mild degree of autism
(CARS=31-33).
3. EEG (electroencephalogram)
Four cases of our autistic patients had history of EEG
abnormalities in the form of epileptic focus.
III. Genetic evaluation:
High resolution karyotyping
All results of our autistic patients were normal with no
detectable chromosomal abnormalities.