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Journal of Autism and Developmental Disorders

, Volume 38, Issue 6, pp 1170–1177 | Cite as

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
Brief Report

Abstract

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.

Keywords

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

Notes

Acknowledgments

The data were obtained in the course of clinical care and are used with the written permission of the subject’s parents. The authors thank the patients and their families for their cooperation and Arthur L. Beaudet, MD for his support. This study was funded by the Gustavus and Louise Pfeiffer Foundation. P.M. was supported by NIH NS049181 and March of Dimes 5-FY05-38 Basil O’Connor Starter Scholar Research Award.

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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Paolo Moretti
    • 1
    • 2
  • Sarika U. Peters
    • 3
  • Daniela del Gaudio
    • 1
  • Trilochan Sahoo
    • 1
  • Keith Hyland
    • 4
  • Teodoro Bottiglieri
    • 5
  • Robert J. Hopkin
    • 6
  • Elizabeth Peach
    • 6
  • Sang Hee Min
    • 7
  • David Goldman
    • 7
  • Benjamin Roa
    • 8
  • Carlos A. Bacino
    • 1
  • Fernando Scaglia
    • 1
  1. 1.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  2. 2.Department NeurologyBaylor College of MedicineHoustonUSA
  3. 3.Department of PediatricsBaylor College of MedicineHoustonUSA
  4. 4.Horizon Molecular MedicineAtlantaUSA
  5. 5.Institute of Metabolic DiseaseBaylor University Medical CenterDallasUSA
  6. 6.Division of Human GeneticsCincinnati Children’s Hospital Medical CenterCincinnatiUSA
  7. 7.Departments of Medicine and Molecular PharmacologyAlbert Einstein College of MedicineBronxUSA
  8. 8.Myriad Genetic LaboratoriesSalt Lake CityUSA

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