الفهرس 
AUTISM SPECTRUM DISorder (ASD)Only 14 pages are availabe for public view
 |  | from | 278 |  |  |
| | | from | 278 | | |
Abstract
Abstract
Background: Autism spectrum disorder (ASD) describes a range of conditions classified as neurodevelopmental disorders that are characterized by social deficits and communication difficulties and stereotyped or repetitive behaviors. Epilepsy prevalence estimates in persons with ASD have ranged from 5% to 46%. The overlapping prevalence suggests that epilepsy and ASD share at least some common biological mechanisms. Genetics play an important role in the etiology of ASD. Mutations in the subunits of the branched chain ketoacid dehydrogenase (BCKDH) complex which catalyzes the branched chain amino acids (BCAAs) may lead to dysregulation of BCAAs and their metabolites characterized by severe neurological complications.
Patients and Methods: 60 patients with ASD were included, age ranged from 2 to 7 years old, 30 patients were ASD with seizures (group 1) and the other 30 patients were ASD without seizures (group 2). 30 comparable healthy controls were also included. Full history taking and clinical examination, Childhood Autism Rating Scale (CARS), Autism Diagnostic Interview-Revised (ADI-R), EEG and blood sample for BCAAs were evaluated in each patient.
Results: 35 patients out of 60 (58.3%) had history of neonatal jaundice. In group (1) 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%). Epileptiform discharges was present in 24 patients out of 30 (80.0%) in group (1). In group (2) 3 patients out of 30 (10.0%) showed epileptiform discharges in their EEG. The mean serum level of BCAAs was low in patients compared to controls. There was no significant difference between the two groups of ASD. BCAAs serum level was very low in 3 patients compared to other patients.
Conclusion: The difference in serum levels of BCAAs opens the door for new etiologies and categorizations of autism according to their genotype and genetic abnormalities which may identify treatable form of autism. Proper supplementation by BCAAs may improve the general condition of the patients whether with epilepsy, for better control of seizures, or without epilepsy.
Key words: Autism spectrum disorder, Autism, Branched chain amino acids, Epilepsy, Seizures, EEG.
Abstract
Background: Autism spectrum disorder (ASD) describes a range of conditions classified as neurodevelopmental disorders that are characterized by social deficits and communication difficulties and stereotyped or repetitive behaviors. Epilepsy prevalence estimates in persons with ASD have ranged from 5% to 46%. The overlapping prevalence suggests that epilepsy and ASD share at least some common biological mechanisms. Genetics play an important role in the etiology of ASD. Mutations in the subunits of the branched chain ketoacid dehydrogenase (BCKDH) complex which catalyzes the branched chain amino acids (BCAAs) may lead to dysregulation of BCAAs and their metabolites characterized by severe neurological complications.
Patients and Methods: 60 patients with ASD were included, age ranged from 2 to 7 years old, 30 patients were ASD with seizures (group 1) and the other 30 patients were ASD without seizures (group 2). 30 comparable healthy controls were also included. Full history taking and clinical examination, Childhood Autism Rating Scale (CARS), Autism Diagnostic Interview-Revised (ADI-R), EEG and blood sample for BCAAs were evaluated in each patient.
Results: 35 patients out of 60 (58.3%) had history of neonatal jaundice. In group (1) 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%). Epileptiform discharges was present in 24 patients out of 30 (80.0%) in group (1). In group (2) 3 patients out of 30 (10.0%) showed epileptiform discharges in their EEG. The mean serum level of BCAAs was low in patients compared to controls. There was no significant difference between the two groups of ASD. BCAAs serum level was very low in 3 patients compared to other patients.
Conclusion: The difference in serum levels of BCAAs opens the door for new etiologies and categorizations of autism according to their genotype and genetic abnormalities which may identify treatable form of autism. Proper supplementation by BCAAs may improve the general condition of the patients whether with epilepsy, for better control of seizures, or without epilepsy.
Key words: Autism spectrum disorder, Autism, Branched chain amino acids, Epilepsy, Seizures, EEG.