title: Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency.
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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
authors.forename: Paolo
authors.initials: P
authors.lastname: Moretti
authors.forename: Sarika U
authors.initials: SU
authors.lastname: Peters
authors.forename: Daniela
authors.initials: D
authors.lastname: Del Gaudio
authors.forename: Trilochan
authors.initials: T
authors.lastname: Sahoo
authors.forename: Keith
authors.initials: K
authors.lastname: Hyland
authors.forename: Teodoro
authors.initials: T
authors.lastname: Bottiglieri
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Hopkin
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Peach
authors.forename: Sang Hee
authors.initials: SH
authors.lastname: Min
authors.forename: David
authors.initials: D
authors.lastname: Goldman
authors.forename: Benjamin
authors.initials: B
authors.lastname: Roa
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Bacino
authors.forename: Fernando
authors.initials: F
authors.lastname: Scaglia
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000175:diagnosis* / Q000503:physiopathology* / Q000523:psychology; D001921:Brain / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000503:physiopathology* / Q000523:psychology; D020820:Dyskinesias / Q000175:diagnosis* / Q000503:physiopathology* / Q000523:psychology; D004827:Epilepsy / Q000175:diagnosis* / Q000503:physiopathology* / Q000523:psychology; D005260:Female; D005492:Folic Acid / Q000134:cerebrospinal fluid; D005494:Folic Acid Deficiency / Q000175:diagnosis* / Q000503:physiopathology* / Q000523:psychology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis* / Q000503:physiopathology* / Q000523:psychology; D008297:Male; D011247:Pregnancy; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000503:physiopathology / Q000523:psychology; D012016:Reference Values; D012043:Regression, Psychology; D013763:Tetrahydrofolates / Q000134:cerebrospinal fluid
chemical_list: D013763:Tetrahydrofolates; D005492:Folic Acid; C005984:5-methyltetrahydrofolate