Article

Journal of Autism and Developmental Disorders

, Volume 33, Issue 2, pp 201-204

Autism and Phenylketonuria

  • Sabrina BaieliAffiliated withDivision of Paediatric Neurology, Department of Paediatrics, University of Catania Email author 
  • , Lorenzo PavoneAffiliated withDivision of Paediatric Neurology, Department of Paediatrics, University of Catania
  • , Concetta MeliAffiliated withRegional Center for Inborn Errors of Metabolism, Department of Paediatrics, University of Catania
  • , Agata FiumaraAffiliated withDivision of Paediatric Neurology, Department of Paediatrics, University of CataniaRegional Center for Inborn Errors of Metabolism, Department of Paediatrics, University of Catania
  • , Mary ColemanAffiliated withDepartment of Paediatrics, Georgetown University School of Medicine

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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.

Phenylketonuria autism association