Evaluation of Branched-Chain Amino Acids in Children with Autism Spectrum Disorder and Epilepsy
Meguid N.A. Hashem H.S. Ghanem M.H. Helal S.A. Semenova Y. Hashem S. Hashish A. Chirumbolo S. Elwan A.M. Bjørklund G.
April 2023Springer
Molecular Neurobiology
2023#60Issue 41997 - 2004 pp.
Autism spectrum disorder (ASD) and epilepsy run hand-to-hand in their pathophysiology. Epilepsy is not an uncommon finding in patients with ASD. The aim of the present study was to identify the metabolic abnormalities of BCAAs (leucine, isoleucine, and valine) in children with ASD with and without seizures in comparison with neurotypical controls. Also, this study aimed to investigate the presence of epileptiform discharges on electroencephalography (EEG) in ASD patients and to describe the types and frequency of seizures observed. The study included 90 children aged 2–7 years, 30 of whom were diagnosed with both ASD and epilepsy. The other 30 children were diagnosed as ASD without epilepsy, and a comparable 30 normally developed children served as a control group. The groups were matched by age and gender. All patients were referred to the Autism Disorders Clinic for interviews and examinations. The Childhood Autism Rating Scale (CARS) was applied to all study participants to assess the degree of autism. The present study results show that all types of seizures may be identified in ASD children. The median serum levels of BCAAs were lower in ASD children with and without epilepsy than in neurotypical controls. This opens the door for discussion about new etiologies and better categorizations of ASD based on genotype and genetic abnormalities detected. More studies with larger samples are needed to understand ASD better and to more reliable evaluate the association between ASD, EEG changes, seizures, and BCAAs.
Autism spectrum disorder , Branched-chain amino acids, Electroencephalography , Epilepsy
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Research On Children With Special Needs Department, National Research Centre, Giza, Egypt
CONEM Egypt Child Brain Research Group, National Research Centre, Giza, Egypt
Faculty of Medicine, Department of Neurology and Psychiatry, Ain Shams University, El-Abaseya, Egypt
Nazarbayev University School of Medicine, Astana, Kazakhstan
Department of Neurology, Cairo University, Cairo, Egypt
Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy
CONEM Scientific Secretary, Verona, Italy
Council for Nutritional and Environmental Medicine (CONEM), Toften 24, Mo I Rana, 8610, Norway
Research On Children With Special Needs Department
CONEM Egypt Child Brain Research Group
Faculty of Medicine
Nazarbayev University School of Medicine
Department of Neurology
Department of Neurosciences
CONEM Scientific Secretary
Council for Nutritional and Environmental Medicine (CONEM)
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