title: Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy.
abstract: In 1999, Hirose et al. reported a Japanese family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) associated with a neuronal nicotinic acetylcholine receptor α4 subunit mutation (S252L). We followed the siblings of this family, and found that the elder brother had Asperger's disorder without mental retardation (MR) and the younger brother had autistic disorder with profound MR. The clinical epileptic features of the siblings were very similar, and both had deficits in socialization, but their cognitive development differed markedly. It thus seems that epilepsy is the direct phenotype of the S252L mutation, whereas other various factors modulate the cognitive and social development. No patients with ADNFLE have previously been reported to have autism spectrum disorder or profound MR.
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, 5-7-30 Moriyama, Shiga, Japan. miyajima@terra.dti.ne.jp
authors.forename: Tomoko
authors.initials: T
authors.lastname: Miyajima
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kumada
authors.forename: Keiko
authors.initials: K
authors.lastname: Saito
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Fujii
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D020817:Asperger Syndrome / Q000235:genetics; D001321:Autistic Disorder / Q000150:complications* / Q000235:genetics; D002220:Carbamazepine / Q000627:therapeutic use; D002648:Child; D002657:Child Development; D017034:Epilepsy, Frontal Lobe / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000523:psychology; D008297:Male; D009483:Neuropsychological Tests; D010375:Pedigree; D011978:Receptors, Nicotinic / Q000235:genetics; D035781:Siblings; D012919:Social Behavior; D013406:Suicide, Attempted; D014888:Wechsler Scales
chemical_list: D000927:Anticonvulsants; D002220:Carbamazepine; D011978:Receptors, Nicotinic