Search In this Thesis
   Search In this Thesis  
العنوان
Study of fragile-x syndrom in mentally retarded children /
المؤلف
Sheheta, Ahmed Mansour Ibrahim.
هيئة الاعداد
باحث / أحمد منصور إبراهيم شحاتة
مشرف / أسامة عبد الفتاح العجمى
مشرف / طارق محمد الجوهرى
مشرف / أمل سعيد البندارى
الموضوع
pediatrics.
تاريخ النشر
2012.
عدد الصفحات
74 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
تاريخ الإجازة
10/10/2012
مكان الإجازة
جامعة طنطا - كلية الطب - طب الاطفال
الفهرس
Only 14 pages are availabe for public view

from 111

from 111

Abstract

Mental retardation(MR)is a variable, heterogeneous manifestation of centr’:ll nervous system dysfunctions, occurring in 1-3% of general population.MR represents one of the most frequently diagnosed disabling conditions in our society, and a lifelong disability characterized by impairment of cognitive and adaptive skills. Anything that damages or interferes with the growth and maturation of the brain can lead to MR. The fragile X-mental retardation syndrome is defined by a moderate to severe mental retardation associated with a cytogenetic marker, a fragile site ’localized on the long arm of the X chromosome at band Xq 27. This syndrome has recently been recognized as one of the major causes of genetically determined mental retardation, and as one of the most important X-linked diseases with respect to its severity and frequency. Over the last decade, fragile X syndrome has been recognized as the second most common cause of mental retardation after Down’s syndrome. This work aimed to study Fragile-X syndrome as a cause of MR in children. The study was carried out in Pediatric Neurologic Unit, Tanta University Hospital, a total of 45 children, classified in two groups (a group of 30 mentally retarded children and another group of 15 healthy control children). All children included in the study subjected to: 1. Complete history taking.2.Physical examination including clinical criteria specific to Fragile -X syndrome: Long narrow face, high arched palate, hyperextensible joints, long ears, prominent jaw, prominent forehead, attention-deficit hyperactivity, avoidance of eye contact and autistic-like behavior. 3.Investigations Intelligence Quotient (IQ) by Wechsler Intelligence Scale for children. Brain C.T.Study of DNA of mentally retarded children by Polymerase Chain Reaction (PCR) to diagnose Fragile-X syndrome.