Brief report: Autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency

Paolo Moretti, Sarika U. Peters, Daniela Del Gaudio, Trilochan Sahoo, Keith Hyland, Teodoro Bottiglieri, Robert J. Hopkin, Elizabeth Peach, Sang Hee Min, David Goldman, Benjamin Roa, Carlos A. Bacino, Fernando Scaglia

Research output: Contribution to journalArticle

64 Scopus citations


We studied seven children with CNS folate deficiency (CFD). All cases exhibited psychomotor retardation, regression, cognitive delay, and dyskinesia; six had seizures; four demonstrated neurological abnormalities in the neonatal period. Two subjects had profound neurological abnormalities that precluded formal behavioral testing. Five subjects received ADOS and ADI-R testing and met diagnostic criteria for autism or autism spectrum disorders. They exhibited difficulties with transitions, insistence on sameness, unusual sensory interests, and repetitive behaviors. Those with the best language skills largely used repetitive phrases. No mutations were found in folate transporter or folate enzyme genes. These findings demonstrate that autistic features are salient in CFD and suggest that a subset of children with developmental regression, mental retardation, seizures, dyskinesia, and autism may have CNS folate abnormalities.

Original languageEnglish (US)
Pages (from-to)1170-1177
Number of pages8
JournalJournal of Autism and Developmental Disorders
Issue number6
Publication statusPublished - Jul 1 2008



  • 5-MTHF
  • 5-methyltetrahydrofolate
  • Autism
  • Cerebral folate deficiency
  • Folate transporters
  • Folic Acid

ASJC Scopus subject areas

  • Developmental and Educational Psychology

Cite this