Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency / Paolo MORETTI in Journal of Autism and Developmental Disorders, 38-6 (July 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-6 (July 2008) . - p.1170-1177 Titre : Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency Type de document : Texte imprimé et/ou numérique Auteurs : Paolo MORETTI, Auteur ; David GOLDMAN, Auteur ; Carlos A. BACINO, Auteur ; Benjamin ROA, Auteur ; Sang Hee MIN, Auteur ; Elizabeth PEACH, Auteur ; Robert J. HOPKIN, Auteur ; Teodoro BOTTIGLIERI, Auteur ; Keith HYLAND, Auteur ; Trilochan SAHOO, Auteur ; Daniela DEL GAUDIO, Auteur ; Sarika U. PETERS, Auteur ; Fernando SCAGLIA, Auteur Année de publication : 2008 Article en page(s) : p.1170-1177 Langues : Anglais (eng) Mots-clés : Folic-Acid 5-methyltetrahydrofolate 5-MTHF Cerebral-folate-deficiency Folate-transporters Autism Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1007/s10803-007-0492-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475 [article] Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency [Texte imprimé et/ou numérique] / Paolo MORETTI, Auteur ; David GOLDMAN, Auteur ; Carlos A. BACINO, Auteur ; Benjamin ROA, Auteur ; Sang Hee MIN, Auteur ; Elizabeth PEACH, Auteur ; Robert J. HOPKIN, Auteur ; Teodoro BOTTIGLIERI, Auteur ; Keith HYLAND, Auteur ; Trilochan SAHOO, Auteur ; Daniela DEL GAUDIO, Auteur ; Sarika U. PETERS, Auteur ; Fernando SCAGLIA, Auteur . - 2008 . - p.1170-1177. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-6 (July 2008) . - p.1170-1177 Mots-clés : Folic-Acid 5-methyltetrahydrofolate 5-MTHF Cerebral-folate-deficiency Folate-transporters Autism Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1007/s10803-007-0492-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475

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