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

The MTHFR 677CT polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations / Robin P. GOIN-KOCHEL in Autism Research, 2-2 (April 2009)  

Public ISBD [article]  inAutism Research > 2-2 (April 2009) . - p.98-108 Titre : The MTHFR 677CT polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations Type de document : Texte imprimé et/ou numérique Auteurs : Robin P. GOIN-KOCHEL, Auteur ; Sarika U. PETERS, Auteur ; Trilochan SAHOO, Auteur ; Anne E. PORTER, Auteur ; Marwan SHINAWI, Auteur ; Arthur L. BEAUDET, Auteur Année de publication : 2009 Article en page(s) : p.98-108 Langues : Anglais (eng) Mots-clés : epigenetics genetics regression clinical-psychology Index. décimale : PER Périodiques Résumé : New evidence suggests that autism may be associated with (a) varied behavioral responses to folate therapy and (b) metabolic anomalies, including those in folate metabolism, that contribute to hypomethylation of DNA. We hypothesized that children with autism who are homozygous for the MTHFR 677 T allele (TT) and, to a lesser extent those with the CT variant, would exhibit more behavioral problems and/or more severe problematic behaviors than homozygous wild-type (CC) individuals because of difficulties in effectively converting 5,10-MTHF to 5-MTHF. Data from the Autism Genetic Resource Exchange (AGRE) collection were analyzed for all children who met strict criteria for autism per the Autism Diagnostic Interview - Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) and who had been genotyped for the 677 C to T MTHFR polymorphism (n=147). Chi-square tests, logistic regression, and one-way ANOVAs were used to determine whether differences existed among MTHFR genotypes for specific behaviors on the ADI-R and indices for level of functioning. Exploratory results indicated four behaviors from the ADI-R that were more common and problematic (95% CI) among those with at least one copy of the T allele as compared to homozygous wild-type individuals: direct gaze, current complex body movements, a history of self-injurious behavior, and current overactivity (ORs=2.72, 2.33, 2.12, 2.47, respectively). No differences existed among genotypes for level of functioning as measured with the Peabody Picture Vocabulary Test - Third Edition, Ravens Colored Progressive Matrices, or the Vineland Adaptive Behavior Scales. Findings call for further investigation of the relationship between folate metabolism and problem behaviors among children with autism. En ligne : http://dx.doi.org/10.1002/aur.70 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936 [article] The MTHFR 677CT polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations [Texte imprimé et/ou numérique] / Robin P. GOIN-KOCHEL, Auteur ; Sarika U. PETERS, Auteur ; Trilochan SAHOO, Auteur ; Anne E. PORTER, Auteur ; Marwan SHINAWI, Auteur ; Arthur L. BEAUDET, Auteur . - 2009 . - p.98-108. Langues : Anglais (eng) in Autism Research > 2-2 (April 2009) . - p.98-108 Mots-clés : epigenetics genetics regression clinical-psychology Index. décimale : PER Périodiques Résumé : New evidence suggests that autism may be associated with (a) varied behavioral responses to folate therapy and (b) metabolic anomalies, including those in folate metabolism, that contribute to hypomethylation of DNA. We hypothesized that children with autism who are homozygous for the MTHFR 677 T allele (TT) and, to a lesser extent those with the CT variant, would exhibit more behavioral problems and/or more severe problematic behaviors than homozygous wild-type (CC) individuals because of difficulties in effectively converting 5,10-MTHF to 5-MTHF. Data from the Autism Genetic Resource Exchange (AGRE) collection were analyzed for all children who met strict criteria for autism per the Autism Diagnostic Interview - Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) and who had been genotyped for the 677 C to T MTHFR polymorphism (n=147). Chi-square tests, logistic regression, and one-way ANOVAs were used to determine whether differences existed among MTHFR genotypes for specific behaviors on the ADI-R and indices for level of functioning. Exploratory results indicated four behaviors from the ADI-R that were more common and problematic (95% CI) among those with at least one copy of the T allele as compared to homozygous wild-type individuals: direct gaze, current complex body movements, a history of self-injurious behavior, and current overactivity (ORs=2.72, 2.33, 2.12, 2.47, respectively). No differences existed among genotypes for level of functioning as measured with the Peabody Picture Vocabulary Test - Third Edition, Ravens Colored Progressive Matrices, or the Vineland Adaptive Behavior Scales. Findings call for further investigation of the relationship between folate metabolism and problem behaviors among children with autism. En ligne : http://dx.doi.org/10.1002/aur.70 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936

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