Nagwa A. Meguid

TL;DR: Inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) are identified in consanguineous families with autism, epilepsy, and intellectual disability and represents a potentially treatable syndrome.

TL;DR: Using exome sequencing as a first-line diagnostic approach in consanguineous families with neurodevelopmental disorders is recommended because of the high diagnostic yield of 36.8% and the possibility of identifying treatable diseases or the coexistence of several disease-causing variants.

TL;DR: Early assessment and treatment of antioxidant status may result in a better prognosis as it could decrease the oxidative stress in the brain before it can induce more irreversible brain damage.

TL;DR: Serum values of 25(OH)D in the children with autism of this study could classify them as being "vitamin D inadequate," which lends support to the hypothesis that autism is a vitamin D deficiency disorder.

TL;DR: Children with autism are more vulnerable to oxidative stress in the form of increased lipid peroxidation and deficient antioxidant defense mechanism especially at younger children, and it is highlighted that autistic children might benefit from antioxidants supplementation coupled with polyunsaturated fatty acids.