Journal
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
Volume 38, Issue 6, Pages 1170-1177Publisher
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10803-007-0492-z
Keywords
folic Acid; 5-methyltetrahydrofolate; 5-MTHF; cerebral folate deficiency; folate transporters; autism
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Funding
- NINDS NIH HHS [K08 NS049181, NS049181] Funding Source: Medline
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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.
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