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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Autistic Disorder / diagnosis*
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Autistic Disorder / physiopathology*
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Autistic Disorder / psychology
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Brain / physiopathology*
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Child
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Child, Preschool
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Developmental Disabilities / diagnosis*
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Developmental Disabilities / physiopathology*
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Developmental Disabilities / psychology
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Dyskinesias / diagnosis*
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Dyskinesias / physiopathology*
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Dyskinesias / psychology
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Epilepsy / diagnosis*
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Epilepsy / physiopathology*
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Epilepsy / psychology
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Female
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Folic Acid / cerebrospinal fluid
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Folic Acid Deficiency / diagnosis*
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Folic Acid Deficiency / physiopathology*
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Folic Acid Deficiency / psychology
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Humans
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Infant
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Infant, Newborn
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Intellectual Disability / diagnosis*
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Intellectual Disability / physiopathology*
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Intellectual Disability / psychology
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Male
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Pregnancy
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Psychomotor Disorders / diagnosis
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Psychomotor Disorders / physiopathology
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Psychomotor Disorders / psychology
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Reference Values
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Regression, Psychology*
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Tetrahydrofolates / cerebrospinal fluid
Substances
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Tetrahydrofolates
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Folic Acid
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5-methyltetrahydrofolate