Journal of Autism and Developmental Disorders

, Volume 33, Issue 2, pp 201–204 | Cite as

Autism and Phenylketonuria

  • Sabrina Baieli
  • Lorenzo Pavone
  • Concetta Meli
  • Agata Fiumara
  • Mary Coleman

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 

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Copyright information

© Plenum Publishing Corporation 2003

Authors and Affiliations

  • Sabrina Baieli
    • 1
  • Lorenzo Pavone
    • 1
  • Concetta Meli
    • 2
  • Agata Fiumara
    • 1
    • 2
  • Mary Coleman
    • 3
  1. 1.Division of Paediatric Neurology, Department of PaediatricsUniversity of CataniaItaly
  2. 2.Regional Center for Inborn Errors of Metabolism, Department of PaediatricsUniversity of CataniaItaly
  3. 3.Department of PaediatricsGeorgetown University School of MedicineWashington, DCUSA

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