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العنوان
Distinct Role of SCN1A and SCN2A Mutation in Random group of Egyptian Children with
Autistic Spectrum Disorders /
المؤلف
Ibrahem, Mahmoud Ibrahem Saad.
هيئة الاعداد
باحث / محمود إبراهيم سعد إبراهيم
مشرف / سامح عبد الله عبد النبي
مشرف / زينب صبري أبو زنة
مشرف / نوران طلعت أبو الخير
الموضوع
Pediatrics. Autism in children. Autistic children.
تاريخ النشر
2024.
عدد الصفحات
162 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
تاريخ الإجازة
7/7/2024
مكان الإجازة
جامعة المنوفية - كلية الطب - طب الاطفال
الفهرس
Only 14 pages are availabe for public view

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Abstract

Autism is a neurodevelopmental disorder that is characterized by
impaired development in communication, social interaction, and behavior.
Autism is classified as a Pervasive Developmental Disorder (PDD), which
is a part of a broad spectrum of developmental disorders affecting young
children and adults. It develops and is typically diagnosed before 36
months of age.
Autism affects information processing in the brain by altering how
nerve cells and their synapses connect and organize; how this occurs is not
well understood.
A kid who has autism also has trouble in linking words to their
meaning. Autism causes kids to act in unusual ways, they might flap their
hands, say certain words over and over, have temper tantrums, play only
with one toy. Most kids with autism don’t like changes in routines. They
insist that their toys or objects be arranged in a certain way and be upset if
these items are moved. Clinical genetic studies and modeling studies
suggest that autism may be caused by multiple interacting gene loci and
that environmental and epigenetic factors may contribute. So, the aim of
the study was to study the distinct role of SCN1A and SCN2A mutation in
Random group of Egyptian children with Autistic spectrum disorders.
To elucidate our aim, a case control study was conducted on 100
subjects (80 males and 20 females) from Neurological Clinics of the
Pediatric department, Menoufia University Hospitals, in collaboration with
Clinical Pathology department Faculty of Medicine, Menoufia University.
The subjects involved were classified into 2 groups, as follows:
 Autistic group: This group included 50 children with autism (38
males and 12 females), their age ranged between 3-8 years.
 Control group: This group included 50 apparently healthy child (42
males, 8 females); their age ranged between 3-10 years.
Diagnosis of Autism patients was based on:
 History
 Clinical examination
 DSM-5 criteria (American Psychiatric Association 2013), Autism
Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS)
(Rellini, Tortolani, 2004).
Exclusion criteria:
 Children with any evidence of conduct disorder, mood disorder,
anxiety disorder, Tourette’s disorder.
 Other pervasive development disorder.
 Mental retardation.
 Any child with congenital or chromosomal anomalies.
 Familial history of psychiatric diseases or neurological diseases.
 Child with hearing disorders.
 Refusal of parental consent.