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العنوان
Study of X linked mental retardation in children /
المؤلف
Abo Al-Azm, Amira Kamal Ahmed.
هيئة الاعداد
باحث / اميرة كمال ابو العزم
مشرف / مها عاطف توفيق
مناقش / مها عاطف توفيق
مشرف / د.وفاء مصطفى أبو الفتوح
الموضوع
Pediatrics. Mental retardation.
تاريخ النشر
2016.
عدد الصفحات
133 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
تاريخ الإجازة
8/9/2016
مكان الإجازة
جامعة المنوفية - كلية الطب - طب الاطفال
الفهرس
Only 14 pages are availabe for public view

from 148

from 148

Abstract

Mental retardation is a genetic disorder manifested in significantly
below average overall intellectual functioning and deficit in adaptive
behavior. Fragile X syndrome is the most commonly inherited form of
mental retardation which affects the child and potentially the mother and
other family members. The multiple manifestations in different age
groups have led to fragile X syndrome being designated as one in the
spectrum of FMR1related disorders. Variations in FMR1 CGG repeat size is a useful biomarker of
various types of risk that affect parents ,as it defines differences between
’’healthy’’ and ’’ affected’’ and between full mutation and premutation
carriers. It is assumed that FMR-1 protein is essential for the normal
development of central nervous system which important for learning and
memory, and the loss or reduction in FMR-1 transcription is the critical
event leading to mental retardation in the people fragile X syndrome;
including intellectual disability ,cognitive impairments and behavioral
problems. Our study aimed to study FMR1 gene in 50 boys who was chosen
after IQ examination using Stanford Binet intelligence test 4th edition and
they had IQ score <70, their ages ranged between 3-16 years, with
exclusion of patients with known genetic etiology including well defined
syndromes as Down syndrome and metabolic causes or history of
prenatal, natal and postnatal insults, severe or profound mental
retardation (IQ<20).
All patients were subjected to the following (Full history, full
clinical examination, anthropometric measurements, routine investigations if needed, assessment of IQ using Stanford Binet
intelligence test 4th edition and molecular study of FMR1 gene.
Molecular studies:
a) DNA extraction from blood samples.
b) Polymerase chain reaction (PCR) for FMR1 gene.
c) Gel electrophoresis for amplified gene products on agarose gel 2%. Results of our study showed that: the prevalence of FXS full
mutation was (6%) and prevalence of FXS premutation was (8%). Most
of patients (52%) were in late childhood period (6ys <12ys), (76%) had
family history of first degree relatives,(24%) had family history of
second degree relatives, consanguinity presented in (14%) with no
significant (P-value 0.64) As regards craniofacial abnormalities of all patients there were
(46%) had prominent forehead, (30%) had long face, (70%) had high
arched palate, (52%) had large prominent ear. Neuropsychatric problems
(64%) had speech problem, (50%) had hyperactivity, (38%) had autistic
features and (20%) had epilepsy. Genital examination one patient 2%
had macroorchodism. According to IQ of our patients (54%) had moderate mental
retardation with IQ (51-36);(66.7% of full mutation patients and 50% of
premutation patients) ,46% had mild mental retardation with IQ (52-68);
33.3% of full mutation patients and 50% of premutation patients.
As regards fragile X features (long face, large prominent ear,
hyperextensible joint, macroorchidism, hyperactivity, autistic features in
form of repetitive speech and lack of attention , speech problem)
In full mutation patients (long face, large prominent ear,
hyperextensible joint presented in 66.7% of each, 33.3% had
macroorchidism (p-value < 0.0001). , hyperactivity presented in 100%,
autistic features presented in 66.7% and speech problem presented in
100% of patients.