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Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS

Paolo Moretti1, Sarika U Peters, Daniela Del Gaudio

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

Journal of Autism and Developmental Disorders
|November 21, 2007
PubMed

Insights

Central nervous system folate deficiency (CFD) in children can lead to significant developmental delays, neurological issues, and autism spectrum disorder features. Early identification of CFD is crucial for intervention.

Area of Science:

  • Neurology
  • Developmental Pediatrics
  • Metabolic Disorders

Background:

  • Central nervous system folate deficiency (CFD) is a rare condition affecting neurological development.
  • Autistic features are not typically associated with CFD in existing literature.

Purpose of the Study:

  • To investigate the prevalence of autistic features in children diagnosed with CFD.
  • To explore the clinical presentation and neurological impact of CFD.

Main Methods:

  • Retrospective case study of seven children with confirmed CFD.
  • Clinical assessment including psychomotor development, cognitive function, and neurological examination.
  • Autism diagnostic tools (ADOS, ADI-R) administered to eligible subjects.

Main Results:

  • All seven children presented with psychomotor retardation, cognitive delay, and dyskinesia.
  • Six children experienced seizures; four had neonatal neurological abnormalities.
  • Five children met diagnostic criteria for autism spectrum disorder, exhibiting characteristic behaviors.
  • No mutations were identified in key folate-related genes.

Conclusions:

  • Autistic features are a significant and observable characteristic in children with CFD.
  • CFD should be considered in the differential diagnosis for children presenting with developmental regression, neurological abnormalities, and autistic traits.

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