title: Autism and phenylketonuria.
abstract: Phenylketonuria (PKU) has been also reported in children with infantile autism (IA); however, the frequency of this association is variably reported. Patients with various forms of hyperphenylalaninemia (HPA) were evaluated applying two methods: the Autism Diagnostic Interview-Revised (ADI-R) and the Childhood Autism Rating Scale (CARS). A total of 243 patients were investigated, 97 with classical PKU, 62 identified by neonatal screening, and 35 late diagnosed. None out of 62 patients with classic PKU diagnosed early met criteria for autism. In the group of 35 patients diagnosed late, two boys (5.71%) ages 16 and 13 years fulfilled the diagnostic criteria for autism. The present study confirms that classical PKU is one of the causes of autism, but the prevalence seems to be very low.
authors.affiliation: Division of Paediatric Neurology, Department of Paediatrics, University of Catania, Italy. sabrinabaieli@tiscali.it
authors.forename: Sabrina
authors.initials: S
authors.lastname: Baieli
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Pavone
authors.forename: Concetta
authors.initials: C
authors.lastname: Meli
authors.forename: Agata
authors.initials: A
authors.lastname: Fiumara
authors.forename: Mary
authors.initials: M
authors.lastname: Coleman
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D005260:Female; D006801:Humans; D008297:Male; D010552:Personality Assessment; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000175:diagnosis* / Q000235:genetics; D012307:Risk Factors
chemical_list: D010649:Phenylalanine