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Autism and phenylketonuria.

Sabrina Baieli1, Lorenzo Pavone, Concetta Meli

  • 1Division of Paediatric Neurology, Department of Paediatrics, University of Catania, Italy. sabrinabaieli@tiscali.it

Journal of Autism and Developmental Disorders
|May 22, 2003
PubMed
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Phenylketonuria (PKU) can cause autism, but this study found the association to be rare. Early diagnosis and treatment of PKU in infants appear to prevent autism development.

Area of Science:

  • Neurodevelopmental disorders
  • Metabolic disorders

Background:

  • Phenylketonuria (PKU), a metabolic disorder, has been anecdotally linked to infantile autism (IA).
  • The precise frequency of this association and the impact of early diagnosis remain unclear.

Purpose of the Study:

  • To investigate the prevalence of autism spectrum disorder in patients with hyperphenylalaninemia (HPA), specifically classical PKU.
  • To determine if early diagnosis and management of PKU influence the development of autism.

Main Methods:

  • Evaluated 243 patients with HPA using the Autism Diagnostic Interview-Revised (ADI-R) and Childhood Autism Rating Scale (CARS).
  • Categorized patients into classical PKU (n=97), including early-diagnosed (n=62) and late-diagnosed (n=35) groups.

Main Results:

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  • None of the 62 early-diagnosed classical PKU patients met autism criteria.
  • Two out of 35 late-diagnosed classical PKU patients (5.71%) were diagnosed with autism.

Conclusions:

  • Classical PKU is confirmed as a potential cause of autism.
  • The study suggests a very low prevalence of autism in PKU patients, particularly when diagnosed and treated early.