الفهرس | Only 14 pages are availabe for public view |
Abstract Autism is a neurodevelopmental disorder that is characterized by impaired development in communication, social interaction, and behavior. Autism is classified as a Pervasive Developmental Disorder (PDD), which is a part of a broad spectrum of developmental disorders affecting young children and adults. It develops and is typically diagnosed before 36 months of age. Autism affects information processing in the brain by altering how nerve cells and their synapses connect and organize; how this occurs is not well understood. A kid who has autism also has trouble in linking words to their meaning. Autism causes kids to act in unusual ways, they might flap their hands, say certain words over and over, have temper tantrums, play only with one toy. Most kids with autism don’t like changes in routines. They insist that their toys or objects be arranged in a certain way and be upset if these items are moved. Clinical genetic studies and modeling studies suggest that autism may be caused by multiple interacting gene loci and that environmental and epigenetic factors may contribute. So, the aim of the study was to study the distinct role of SCN1A and SCN2A mutation in Random group of Egyptian children with Autistic spectrum disorders. To elucidate our aim, a case control study was conducted on 100 subjects (80 males and 20 females) from Neurological Clinics of the Pediatric department, Menoufia University Hospitals, in collaboration with Clinical Pathology department Faculty of Medicine, Menoufia University. The subjects involved were classified into 2 groups, as follows: Autistic group: This group included 50 children with autism (38 males and 12 females), their age ranged between 3-8 years. Control group: This group included 50 apparently healthy child (42 males, 8 females); their age ranged between 3-10 years. Diagnosis of Autism patients was based on: History Clinical examination DSM-5 criteria (American Psychiatric Association 2013), Autism Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS) (Rellini, Tortolani, 2004). Exclusion criteria: Children with any evidence of conduct disorder, mood disorder, anxiety disorder, Tourette’s disorder. Other pervasive development disorder. Mental retardation. Any child with congenital or chromosomal anomalies. Familial history of psychiatric diseases or neurological diseases. Child with hearing disorders. Refusal of parental consent. |