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العنوان
Study of Sirtuin 1 Gene Polymorphism and Protein Oxidation Markers in children with Autism Disorder /
المؤلف
Farag, Basma Elsayed Hussein.
هيئة الاعداد
باحث / بسمه السيد حسين فرج
مشرف / وفاء مصطفى محمد أبو الفتوح
مشرف / نهى ربيع محمد بيومى
مشرف / أسماء الدسوقي رشاد قنديل
الموضوع
Pediatrics. Autism.
تاريخ النشر
2023.
عدد الصفحات
148 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
تاريخ الإجازة
4/2/2023
مكان الإجازة
جامعة المنوفية - كلية الطب - طب الأطفال
الفهرس
Only 14 pages are availabe for public view

from 156

from 156

Abstract

Autism is considered a multi-factorial disorder that is influenced by genetic, immunological, and environmental factors, including oxidative stress. Abnormal genes of oxidative stress pathways and increased oxidative stress have been reported in autism spectrum disorders.
There is strong evidence for the importance of complex genetic factors comprised of different forms of genetic variation in the etiology of ASD. Sirtuin 1 gene, consisting of 9 exons and 8 introns, a member of a conserved family of NAD-dependent deacylases called sirtuins, which associated with numerous cellular signaling pathways that are mainly involved in cytoprotective effects and metabolic regulation, and it has been shown to promote neurite outgrowth.
Accordingly, we aimed in this study to investigate the association between autism and SIRT1 polymorphisms (rs2273773 and rs7069102) as well as protein oxidation markers in autistic children.
This is a prospective case-control study recruited cases diagnosed with autism from the Neurology Pediatric and phoniatric outpatient clinics at Menoufia University hospital during the period form October 2020 till October 2021 after taking the approval of Menoufia faculty of medicine ethical committee (19719 PEDI11). The study included 100 children that were divided as:
Autism group: Included 50 children (40 males, 10 females) diagnosed with autism fulfilling all inclusion and exclusion criteria.
Control group: included 50 healthy children (35 males and 15 females) with no suspicion of autism.
Inclusion criteria:
- Children diagnosed with autism disorder based on to DSM-V and CARS criteria (American Psychiatric Association; 2013; El-Ansary et al., 2018).
- Children of both sex form 3-16 years old.
Exclusion criteria:
- Children with other neuro-psychatric disorders as conduct disorder, mood disorder, anxiety disorder, Tourette’s disorder and pervasive development disorder.
- Children with primary neurological disorders as meningitis, encephlites and CP.
All enrolled children will be subjected to:
I. Full history: including personal history, prenatal history, obstetric and neonatal history and postnatal history as developmental history. In addition family history of autism and other famial or genetic disease as well as socioeconomic status.
II. Complete clinical examination: including general examination and systemic review of chest, heart, abdominal and cutaneous examination with stress on neurological and behavioral examination.