Search In this Thesis
   Search In this Thesis  
العنوان
Evaluation of Branched-chain Amino Acids in Autism Spectrum Disorder with Epilepsy /
المؤلف
Elwan, Ahmed Mohamed Mohamed Ezzat.
هيئة الاعداد
مشرف / Ahmed Mohamed Mohamed Ezzat Elwan
مشرف / Mohamed Hamed Ghanem
مشرف / Samia Ashour Helal
مشرف / Nagwa Abdel Meguid Mohamed
تاريخ النشر
2017ز
عدد الصفحات
279 P. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
علم الأعصاب السريري
تاريخ الإجازة
1/1/2017
مكان الإجازة
جامعة عين شمس - كلية الطب - المخ والاعصاب والطب النفسي
الفهرس
Only 14 pages are availabe for public view

from 279

from 279

Abstract

T
he autism spectrum disorder (ASD) describes a range of conditions classified as neurodevelopmental disorders in the fifth revision of the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders 5th Edition (DSM-5). These disorders are characterized by social deficits and communication difficulties, stereotyped or repetitive behaviors and interests, sensory issues, and in some cases cognitive delays.
Epilepsy prevalence estimates in persons with ASD have ranged from 5% to 46% which is higher than normal population. The overlapping prevalence suggests that epilepsy and ASD share at least some common biological mechanisms.
The three proteinogenic BCAAs (leucine, isoleucine and valine) are among the nine essential amino acids for humans, accounting for 35% of the essential amino acids in muscle proteins and 40% of the preformed amino acids required by mammals. Although a substantial fraction of autism may be highly heritable, the specific genetic causes remain obscure in the majority of cases. Experiments have identified a Mendelian form of autism with comorbid intellectual disability (ID) and epilepsy that is associated with low plasma BCAAs.
The aim of the study is to determine the correlation between the severity of autistic behaviors with EEG findings and epilepsy. It also aims to detect if there is a correlation between autism with or without epilepsy and the BCAAs.
The study was conducted on 60 patients (43 males and 17 females) in the Autism Disorders Clinic, Medical Research Centre of Excellence, National Research Centre. Their age ranged from 2 to 7 years. 30 patients with history of seizures and the other 30 without history of seizures. A comparable thirty healthy controls matched for age and sex were also included.
The patients were referred to the Autism Disorders Clinic to be interviewed. One interview was needed for each patient in whom each interview lasted between one to two hours. Sheets were fulfilled for all the patients with the help of their caregivers. General and neurological examinations were performed. ADI-R and CARS were applied to each patient to assess the degree of autism. Details regarding history of seizures, their types, frequency and therapeutic measures were reported. History of neuropsychological symptoms as sleep disturbances, hyperactivity and aggressiveness was taken as well as perinatal and family history of neuropsychiatric illnesses. EEG and blood sample for the metabolic study were performed for each patient.
EEG was done for all the patients included in the study, recorded during sleep for 20 minutes after chloral hydrate premedication by the 10-20 channel system under standard conditions with photic stimulation as a provocative technique. The EEG traces were interpreted to detect any epileptiform discharges in the form of sharp waves and spike waves complexes focal or generalized. Spikes and sharp waves may represent seizure activity or interictal activity in individuals with epilepsy or a predisposition toward epilepsy.
Metabolic study was performed to detect the quantitative measurement of BCAAs (leucine, isoleucine and valine) in serum by using Enzyme-linked Immunosorbent Assay Kit for BCAAs; this kit is a competitive inhibition enzyme immunoassay technique for the in vitro quantitative measurement of BCAAs in serum, plasma and other biological fluids.
The study showed that:
• Perinatal history especially hyperbilirubinemia maybe a risk factor in autism, 35 patients out of 60 (58.3%) had neonatal jaundice, but there was no differences between autistics with and without epilepsy.
• Most of types of seizures can occur with autism, generalized tonic clonic seizures was present in 14 patients out of 30 (46.7%), febrile convulsions in 11 patients (36.7%), complex partial seizures in 3 patients (10.0%) and myoclonic seizures in 2 patients (6.70%).
• Most of types of epileptiform discharges could be detected in EEG, in the form of sharp waves and spike waves complexes focal and generalized.
• Not all of the patients who have EEG abnormalities had history of seizures, epileptiform EEG activity was found in 3 patients out of 30 (10.0%) among cases without history of seizures.
• Not all of patients with history of seizures had EEG abnormalities, EEG was normal in 6 patients out of 30 (20.0%) among cases with seizures.
• Some of neuropsychological symptoms e.g. hyperactivity were worse in epileptic patients than the non-epileptics.
• The mean serum levels of BCAAs was lower in autistics with and without epilepsy than healthy controls.
• The mean serum level of isoleucine was lower in in non-consanguineous than consanguineous patients.
• The serum level of BCAAs was very low in three patients than others.