Dépouillements

Increased Glutamate Concentration in the Auditory Cortex of Persons With Autism and First-Degree Relatives: A 1H-MRS Study / Mark S. BROWN in Autism Research, 6-1 (February 2013)  

Public ISBD [article]  inAutism Research > 6-1 (February 2013) . - p.1-10 Titre : Increased Glutamate Concentration in the Auditory Cortex of Persons With Autism and First-Degree Relatives: A 1H-MRS Study Type de document : Texte imprimé et/ou numérique Auteurs : Mark S. BROWN, Auteur ; Debra SINGEL, Auteur ; Susan HEPBURN, Auteur ; Donald C. ROJAS, Auteur Année de publication : 2013 Article en page(s) : p.1-10 Langues : Anglais (eng) Mots-clés : glutamate  n-acetyl-aspartate  creatine  spectroscopy  auditory cortex Index. décimale : PER Périodiques Résumé : Increased glutamate levels have been reported in the hippocampal and frontal regions of persons with autism using proton magnetic resonance spectroscopy (1H-MRS). Although autism spectrum disorders (ASDs) are highly heritable, MRS studies have not included relatives of persons with ASD. We therefore conducted a study to determine if glutamate levels are elevated in people with autism and parents of children with autism. Single-voxel, point-resolved spectroscopy data were acquired at 3T for left and right hemisphere auditory cortical voxels in 13 adults with autism, 15 parents of children with autism, and 15 adult control subjects. The primary measure was glutamate?+?glutamine (Glx). Additional measures included n-acetyl-aspartate (NAA), choline (Cho), myoinositol (mI), and creatine (Cr). The autism group had significantly higher Glx, NAA, and Cr concentrations than the control subjects. Parents did not differ from control subjects on any measures. No significant differences in Cho or mI levels were seen among groups. No reliable correlations between autism symptom measures, and MRS variables were seen after Bonferroni correction for multiple comparisons. The elevation in Glx in autism is consistent with prior MRS data in the hippocampus and frontal lobe and may suggest increased cortical excitability. Increased NAA and Cr may indicate brain metabolism disturbances in autism. In the current study, we found no reliable evidence of a familial effect for any spectroscopy measure. This may indicate that these metabolites have no heritable component in autism, the presence of a compensatory factor in parents, or sample-specific limitations such as the participation of singleton families. En ligne : http://dx.doi.org/10.1002/aur.1260 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192 [article] Increased Glutamate Concentration in the Auditory Cortex of Persons With Autism and First-Degree Relatives: A 1H-MRS Study [Texte imprimé et/ou numérique] / Mark S. BROWN, Auteur ; Debra SINGEL, Auteur ; Susan HEPBURN, Auteur ; Donald C. ROJAS, Auteur . - 2013 . - p.1-10. Langues : Anglais (eng) in Autism Research > 6-1 (February 2013) . - p.1-10 Mots-clés : glutamate  n-acetyl-aspartate  creatine  spectroscopy  auditory cortex Index. décimale : PER Périodiques Résumé : Increased glutamate levels have been reported in the hippocampal and frontal regions of persons with autism using proton magnetic resonance spectroscopy (1H-MRS). Although autism spectrum disorders (ASDs) are highly heritable, MRS studies have not included relatives of persons with ASD. We therefore conducted a study to determine if glutamate levels are elevated in people with autism and parents of children with autism. Single-voxel, point-resolved spectroscopy data were acquired at 3T for left and right hemisphere auditory cortical voxels in 13 adults with autism, 15 parents of children with autism, and 15 adult control subjects. The primary measure was glutamate?+?glutamine (Glx). Additional measures included n-acetyl-aspartate (NAA), choline (Cho), myoinositol (mI), and creatine (Cr). The autism group had significantly higher Glx, NAA, and Cr concentrations than the control subjects. Parents did not differ from control subjects on any measures. No significant differences in Cho or mI levels were seen among groups. No reliable correlations between autism symptom measures, and MRS variables were seen after Bonferroni correction for multiple comparisons. The elevation in Glx in autism is consistent with prior MRS data in the hippocampus and frontal lobe and may suggest increased cortical excitability. Increased NAA and Cr may indicate brain metabolism disturbances in autism. In the current study, we found no reliable evidence of a familial effect for any spectroscopy measure. This may indicate that these metabolites have no heritable component in autism, the presence of a compensatory factor in parents, or sample-specific limitations such as the participation of singleton families. En ligne : http://dx.doi.org/10.1002/aur.1260 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192

Neonatal Brainstem Function and 4-Month Arousal-Modulated Attention Are Jointly Associated With Autism / Ira L. COHEN in Autism Research, 6-1 (February 2013)  

Public ISBD [article]  inAutism Research > 6-1 (February 2013) . - p.11-22 Titre : Neonatal Brainstem Function and 4-Month Arousal-Modulated Attention Are Jointly Associated With Autism Type de document : Texte imprimé et/ou numérique Auteurs : Ira L. COHEN, Auteur ; Judith M. GARDNER, Auteur ; Bernard Z. KARMEL, Auteur ; Ha T. T. PHAN, Auteur ; Phyllis KITTLER, Auteur ; Tina Rovito GOMEZ, Auteur ; Maripaz G. GONZALEZ, Auteur ; Elizabeth M. LENNON, Auteur ; Santosh PARAB, Auteur ; Anthony BARONE, Auteur Année de publication : 2013 Article en page(s) : p.11-22 Langues : Anglais (eng) Mots-clés : auditory brainstem response  infancy  attention  arousal  repetitive and ritualistic behaviors  autism spectrum disorder Index. décimale : PER Périodiques Résumé : The authors evaluated the contribution of initially abnormal neonatal auditory brainstem responses (ABRs) and 4-month arousal-modulated attention visual preference to later autism spectrum disorder (ASD) behaviors in neonatal intensive care unit (NICU) graduates. A longitudinal study design was used to compare NICU graduates with normal ABRs (n?=?28) to those with initially abnormal ABRs (n?=?46) that later resolved. At 4 months postterm age, visual preference (measured after feeding) for a random check pattern flashing at 1, 3, or 8?Hz and gestational age (GA) served as additional predictors. Outcome measures were PDD Behavior Inventory (PDDBI) scores at 3.4 years (standard deviation?=?1.2), and developmental quotients (DQ) obtained around the same age with the Griffiths Mental Development Scales (GMDS). Preferences for higher rates of stimulation at 4 months were highly correlated with PDDBI scores (all P-values??0.01) and the GMDS Hearing and Speech DQ, but only in those with initially abnormal ABRs. Effects were strongest for a PDDBI social competence measure most associated with a diagnosis of autism. For those with abnormal ABRs, increases in preference for higher rates of stimulation as infants were linked to nonlinear increases in severity of ASD at 3 years and to an ASD diagnosis. Abnormal ABRs were associated with later reports of repetitive and ritualistic behaviors irrespective of 4-month preference for stimulation. The joint occurrence of initially abnormal neonatal ABRs and preference for more stimulation at 4 months, both indices of early brainstem dysfunction, may be a marker for the development of autism in this cohort. En ligne : http://dx.doi.org/10.1002/aur.1259 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192 [article] Neonatal Brainstem Function and 4-Month Arousal-Modulated Attention Are Jointly Associated With Autism [Texte imprimé et/ou numérique] / Ira L. COHEN, Auteur ; Judith M. GARDNER, Auteur ; Bernard Z. KARMEL, Auteur ; Ha T. T. PHAN, Auteur ; Phyllis KITTLER, Auteur ; Tina Rovito GOMEZ, Auteur ; Maripaz G. GONZALEZ, Auteur ; Elizabeth M. LENNON, Auteur ; Santosh PARAB, Auteur ; Anthony BARONE, Auteur . - 2013 . - p.11-22. Langues : Anglais (eng) in Autism Research > 6-1 (February 2013) . - p.11-22 Mots-clés : auditory brainstem response  infancy  attention  arousal  repetitive and ritualistic behaviors  autism spectrum disorder Index. décimale : PER Périodiques Résumé : The authors evaluated the contribution of initially abnormal neonatal auditory brainstem responses (ABRs) and 4-month arousal-modulated attention visual preference to later autism spectrum disorder (ASD) behaviors in neonatal intensive care unit (NICU) graduates. A longitudinal study design was used to compare NICU graduates with normal ABRs (n?=?28) to those with initially abnormal ABRs (n?=?46) that later resolved. At 4 months postterm age, visual preference (measured after feeding) for a random check pattern flashing at 1, 3, or 8?Hz and gestational age (GA) served as additional predictors. Outcome measures were PDD Behavior Inventory (PDDBI) scores at 3.4 years (standard deviation?=?1.2), and developmental quotients (DQ) obtained around the same age with the Griffiths Mental Development Scales (GMDS). Preferences for higher rates of stimulation at 4 months were highly correlated with PDDBI scores (all P-values??0.01) and the GMDS Hearing and Speech DQ, but only in those with initially abnormal ABRs. Effects were strongest for a PDDBI social competence measure most associated with a diagnosis of autism. For those with abnormal ABRs, increases in preference for higher rates of stimulation as infants were linked to nonlinear increases in severity of ASD at 3 years and to an ASD diagnosis. Abnormal ABRs were associated with later reports of repetitive and ritualistic behaviors irrespective of 4-month preference for stimulation. The joint occurrence of initially abnormal neonatal ABRs and preference for more stimulation at 4 months, both indices of early brainstem dysfunction, may be a marker for the development of autism in this cohort. En ligne : http://dx.doi.org/10.1002/aur.1259 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192

Object-Directed Imitation in Children With High-Functioning Autism: Testing the Social Motivation Hypothesis / Mark NIELSEN in Autism Research, 6-1 (February 2013)  

Public ISBD [article]  inAutism Research > 6-1 (February 2013) . - p.23-32 Titre : Object-Directed Imitation in Children With High-Functioning Autism: Testing the Social Motivation Hypothesis Type de document : Texte imprimé et/ou numérique Auteurs : Mark NIELSEN, Auteur ; Virginia P. SLAUGHTER, Auteur ; Cheryl DISSANAYAKE, Auteur Année de publication : 2013 Article en page(s) : p.23-32 Langues : Anglais (eng) Mots-clés : social cognition  overimitation  synchronic imitation  social learning  autism Index. décimale : PER Périodiques Résumé : Children with autism show clear deficits in copying others' bodily oriented actions whereas their capacity for replicating others' object-directed actions appears relatively spared. One explanation is that unlike bodily oriented actions, object-directed actions have tangible, functional outcomes and hence rely far less on social motivations for their production. To investigate this, we compared the performance of a group of children with high-functioning autism (HFA) and a group of typically developing (TD) children on two distinct object-directed tasks that are considered highly social: overimitation and synchronic imitation. Our findings were surprising. The HFA children copied all of a modeling adult's actions, including those that had no function or purpose (i.e. they overimitated), and they entered into extended bouts repeating an arbitrary action along with the adult who had a similar object to play with (i.e. they engaged in synchronic imitation). Moreover, they did so at rates indistinguishable from the TD children. This work demonstrates that the capacity and propensity for overimitation and synchronic imitation are intact in children with HFA, and questions whether socially based imitation should be considered an autism-specific deficit. En ligne : http://dx.doi.org/10.1002/aur.1261 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192 [article] Object-Directed Imitation in Children With High-Functioning Autism: Testing the Social Motivation Hypothesis [Texte imprimé et/ou numérique] / Mark NIELSEN, Auteur ; Virginia P. SLAUGHTER, Auteur ; Cheryl DISSANAYAKE, Auteur . - 2013 . - p.23-32. Langues : Anglais (eng) in Autism Research > 6-1 (February 2013) . - p.23-32 Mots-clés : social cognition  overimitation  synchronic imitation  social learning  autism Index. décimale : PER Périodiques Résumé : Children with autism show clear deficits in copying others' bodily oriented actions whereas their capacity for replicating others' object-directed actions appears relatively spared. One explanation is that unlike bodily oriented actions, object-directed actions have tangible, functional outcomes and hence rely far less on social motivations for their production. To investigate this, we compared the performance of a group of children with high-functioning autism (HFA) and a group of typically developing (TD) children on two distinct object-directed tasks that are considered highly social: overimitation and synchronic imitation. Our findings were surprising. The HFA children copied all of a modeling adult's actions, including those that had no function or purpose (i.e. they overimitated), and they entered into extended bouts repeating an arbitrary action along with the adult who had a similar object to play with (i.e. they engaged in synchronic imitation). Moreover, they did so at rates indistinguishable from the TD children. This work demonstrates that the capacity and propensity for overimitation and synchronic imitation are intact in children with HFA, and questions whether socially based imitation should be considered an autism-specific deficit. En ligne : http://dx.doi.org/10.1002/aur.1261 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192

Exploring the Relationship Between Anxiety and Insistence on Sameness in Autism Spectrum Disorders / Katherine GOTHAM in Autism Research, 6-1 (February 2013)  

Public ISBD [article]  inAutism Research > 6-1 (February 2013) . - p.33-41 Titre : Exploring the Relationship Between Anxiety and Insistence on Sameness in Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Katherine GOTHAM, Auteur ; Somer L. BISHOP, Auteur ; Vanessa HUS, Auteur ; Marisela HUERTA, Auteur ; Sabata LUND, Auteur ; Andreas BUJA, Auteur ; Abba KRIEGER, Auteur ; Catherine LORD, Auteur Année de publication : 2013 Article en page(s) : p.33-41 Langues : Anglais (eng) Mots-clés : autism spectrum disorders  anxiety  insistence on sameness  Simons Simplex Collection  Child Behavior Checklist 6–18 (CBCL)  Autism Diagnostic Interview-Revised (ADI-R) Index. décimale : PER Périodiques Résumé : Elevated anxiety symptoms are one of the most common forms of psychopathology to co-occur with autism spectrum disorders (ASDs). The purpose of this study was to explore the association between anxiety and ASD symptoms, particularly the degree to which the relationship is explained by insistence on sameness (IS) behaviors and/or cognitive ability. The sample included 1429 individuals aged 5:8–18:0 years who participated in the Simons Simplex Collection, a genetic consortium study of ASD. Child Behavior Checklist Anxiety Problems T-scores and Autism Diagnostic Interview-Revised “IS“ item raw totals were treated as both categorical and continuous measures of anxiety and IS, respectively. Chronological age, verbal intelligence quotient (IQ), and a variety of ASD phenotype-related and other behavioral variables were assessed for potential association with anxiety and IS. Anxiety and IS continuous variables were minimally, although significantly, associated with each other and with chronological age and verbal IQ. Neither anxiety nor IS was associated with other core autism diagnostic scores. Anxiety was associated with a variety of other psychiatric and behavioral symptoms in ASD, including irritability, attention problems, and aggression, while IS was not. Anxiety and IS appear to function as distinct constructs, each with a wide range of expression in children with ASD across age and IQ levels. Thus, both variables could be of use in ASD behavioral research or in dimensional approaches to genetic exploration. Unlike IS, however, anxiety is related to non-ASD-specific behavioral symptoms. En ligne : http://dx.doi.org/10.1002/aur.1263 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192 [article] Exploring the Relationship Between Anxiety and Insistence on Sameness in Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Katherine GOTHAM, Auteur ; Somer L. BISHOP, Auteur ; Vanessa HUS, Auteur ; Marisela HUERTA, Auteur ; Sabata LUND, Auteur ; Andreas BUJA, Auteur ; Abba KRIEGER, Auteur ; Catherine LORD, Auteur . - 2013 . - p.33-41. Langues : Anglais (eng) in Autism Research > 6-1 (February 2013) . - p.33-41 Mots-clés : autism spectrum disorders  anxiety  insistence on sameness  Simons Simplex Collection  Child Behavior Checklist 6–18 (CBCL)  Autism Diagnostic Interview-Revised (ADI-R) Index. décimale : PER Périodiques Résumé : Elevated anxiety symptoms are one of the most common forms of psychopathology to co-occur with autism spectrum disorders (ASDs). The purpose of this study was to explore the association between anxiety and ASD symptoms, particularly the degree to which the relationship is explained by insistence on sameness (IS) behaviors and/or cognitive ability. The sample included 1429 individuals aged 5:8–18:0 years who participated in the Simons Simplex Collection, a genetic consortium study of ASD. Child Behavior Checklist Anxiety Problems T-scores and Autism Diagnostic Interview-Revised “IS“ item raw totals were treated as both categorical and continuous measures of anxiety and IS, respectively. Chronological age, verbal intelligence quotient (IQ), and a variety of ASD phenotype-related and other behavioral variables were assessed for potential association with anxiety and IS. Anxiety and IS continuous variables were minimally, although significantly, associated with each other and with chronological age and verbal IQ. Neither anxiety nor IS was associated with other core autism diagnostic scores. Anxiety was associated with a variety of other psychiatric and behavioral symptoms in ASD, including irritability, attention problems, and aggression, while IS was not. Anxiety and IS appear to function as distinct constructs, each with a wide range of expression in children with ASD across age and IQ levels. Thus, both variables could be of use in ASD behavioral research or in dimensional approaches to genetic exploration. Unlike IS, however, anxiety is related to non-ASD-specific behavioral symptoms. En ligne : http://dx.doi.org/10.1002/aur.1263 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192

The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism / Sarika U. PETERS in Autism Research, 6-1 (February 2013)  

Public ISBD [article]  inAutism Research > 6-1 (February 2013) . - p.42-50 Titre : The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism Type de document : Texte imprimé et/ou numérique Auteurs : Sarika U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; Amy K. WILSON, Auteur ; Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Claudia M. B. CARVALHO, Auteur ; James R. LUPSKI, Auteur ; Melissa B. RAMOCKI, Auteur Année de publication : 2013 Article en page(s) : p.42-50 Langues : Anglais (eng) Mots-clés : autism  MECP2  genetics  phenotype  social affect  overexpression Index. décimale : PER Périodiques Résumé : Alterations in the X-linked gene MECP2 encoding the methyl-CpG-binding protein 2 have been linked to autism spectrum disorders (ASDs). Most recently, data suggest that overexpression of MECP2 may be related to ASD. To better characterize the relevance of MECP2 overexpression to ASD-related behaviors, we compared the core symptoms of ASD in MECP2 duplication syndrome to nonverbal mental age-matched boys with idiopathic ASD. Within the MECP2 duplication group, we further delineated aspects of the behavioral phenotype and also examined how duplication size and gene content corresponded to clinical severity. We compared ten males with MECP2 duplication syndrome (ages 3–10) with a chronological and mental age-matched sample of nine nonverbal males with idiopathic ASD. Our results indicate that boys with MECP2 duplication syndrome share the core behavioral features of ASD (e.g. social affect, restricted/repetitive behaviors). Direct comparisons of ASD profiles revealed that a majority of boys with MECP2 duplication syndrome are similar to idiopathic ASD; they have impairments in social affect (albeit to a lesser degree than idiopathic ASD) and similar severity in restricted/repetitive behaviors. Nonverbal mental age did not correlate with severity of social impairment or repetitive behaviors. Within the MECP2 duplication group, breakpoint size does not predict differences in clinical severity. In addition to social withdrawal and stereotyped behaviors, we also found that hyposensitivity to pain/temperature are part of the behavioral phenotype of MECP2 duplication syndrome. Our results illustrate that overexpression/increased dosage of MECP2 is related to core features of ASD. En ligne : http://dx.doi.org/10.1002/aur.1262 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192 [article] The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism [Texte imprimé et/ou numérique] / Sarika U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; Amy K. WILSON, Auteur ; Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Claudia M. B. CARVALHO, Auteur ; James R. LUPSKI, Auteur ; Melissa B. RAMOCKI, Auteur . - 2013 . - p.42-50. Langues : Anglais (eng) in Autism Research > 6-1 (February 2013) . - p.42-50 Mots-clés : autism  MECP2  genetics  phenotype  social affect  overexpression Index. décimale : PER Périodiques Résumé : Alterations in the X-linked gene MECP2 encoding the methyl-CpG-binding protein 2 have been linked to autism spectrum disorders (ASDs). Most recently, data suggest that overexpression of MECP2 may be related to ASD. To better characterize the relevance of MECP2 overexpression to ASD-related behaviors, we compared the core symptoms of ASD in MECP2 duplication syndrome to nonverbal mental age-matched boys with idiopathic ASD. Within the MECP2 duplication group, we further delineated aspects of the behavioral phenotype and also examined how duplication size and gene content corresponded to clinical severity. We compared ten males with MECP2 duplication syndrome (ages 3–10) with a chronological and mental age-matched sample of nine nonverbal males with idiopathic ASD. Our results indicate that boys with MECP2 duplication syndrome share the core behavioral features of ASD (e.g. social affect, restricted/repetitive behaviors). Direct comparisons of ASD profiles revealed that a majority of boys with MECP2 duplication syndrome are similar to idiopathic ASD; they have impairments in social affect (albeit to a lesser degree than idiopathic ASD) and similar severity in restricted/repetitive behaviors. Nonverbal mental age did not correlate with severity of social impairment or repetitive behaviors. Within the MECP2 duplication group, breakpoint size does not predict differences in clinical severity. In addition to social withdrawal and stereotyped behaviors, we also found that hyposensitivity to pain/temperature are part of the behavioral phenotype of MECP2 duplication syndrome. Our results illustrate that overexpression/increased dosage of MECP2 is related to core features of ASD. En ligne : http://dx.doi.org/10.1002/aur.1262 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192

Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism / Steven KLEIN in Autism Research, 6-1 (February 2013)  

Public ISBD [article]  inAutism Research > 6-1 (February 2013) . - p.51-56 Titre : Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism Type de document : Texte imprimé et/ou numérique Auteurs : Steven KLEIN, Auteur ; Pantea SHARIFI-HANNAUER, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur Année de publication : 2013 Article en page(s) : p.51-56 Langues : Anglais (eng) Mots-clés : autism  macrocephaly  PTEN  overgrowth  hypotonia Index. décimale : PER Périodiques Résumé : An association between autism and macrocephaly has been previously described. A subset of cases with extreme macrocephaly (3 standard deviation [SD], 99.7th percentile) have been correlated to mutations in the gene phosphatase and tensin homolog (PTEN). However, the phenotypic and genetic characterization of the remaining cases remains unclear. We report the phenotypic classification and genetic testing evaluation of a cohort of 33 patients with autism and macrocephaly. Within our cohort, we confirm the association of PTEN mutations and extreme macrocephaly (3 SD, 99.7th percentile) and identify mutations in 22% of cases, including three novel PTEN mutations. In addition, we define three phenotypic subgroups: (a) those cases associated with somatic overgrowth, (b) those with disproportionate macrocephaly, and (c) those with relative macrocephaly. We have devised a novel way to segregate patients into these subgroups that will aide in the stratification of autism macrocephaly cases. Within these subgroups, we further expand the genetic etiologies for autism cases with macrocephaly by describing two novel suspected pathogenic copy number variants located at 6q23.2 and 10q24.32. These findings demonstrate the phenotypic heterogeneity of autism cases associated with macrocephaly and their genetic etiologies. The clinical yield from PTEN mutation analysis is 22% and 9% from chromosomal microarray (CMA) testing within this cohort. The identification of three distinct phenotypic subgroups within macrocephaly autism patients may allow for the identification of their respective distinct genetic etiologies that to date have remained elusive. En ligne : http://dx.doi.org/10.1002/aur.1266 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192 [article] Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism [Texte imprimé et/ou numérique] / Steven KLEIN, Auteur ; Pantea SHARIFI-HANNAUER, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur . - 2013 . - p.51-56. Langues : Anglais (eng) in Autism Research > 6-1 (February 2013) . - p.51-56 Mots-clés : autism  macrocephaly  PTEN  overgrowth  hypotonia Index. décimale : PER Périodiques Résumé : An association between autism and macrocephaly has been previously described. A subset of cases with extreme macrocephaly (3 standard deviation [SD], 99.7th percentile) have been correlated to mutations in the gene phosphatase and tensin homolog (PTEN). However, the phenotypic and genetic characterization of the remaining cases remains unclear. We report the phenotypic classification and genetic testing evaluation of a cohort of 33 patients with autism and macrocephaly. Within our cohort, we confirm the association of PTEN mutations and extreme macrocephaly (3 SD, 99.7th percentile) and identify mutations in 22% of cases, including three novel PTEN mutations. In addition, we define three phenotypic subgroups: (a) those cases associated with somatic overgrowth, (b) those with disproportionate macrocephaly, and (c) those with relative macrocephaly. We have devised a novel way to segregate patients into these subgroups that will aide in the stratification of autism macrocephaly cases. Within these subgroups, we further expand the genetic etiologies for autism cases with macrocephaly by describing two novel suspected pathogenic copy number variants located at 6q23.2 and 10q24.32. These findings demonstrate the phenotypic heterogeneity of autism cases associated with macrocephaly and their genetic etiologies. The clinical yield from PTEN mutation analysis is 22% and 9% from chromosomal microarray (CMA) testing within this cohort. The identification of three distinct phenotypic subgroups within macrocephaly autism patients may allow for the identification of their respective distinct genetic etiologies that to date have remained elusive. En ligne : http://dx.doi.org/10.1002/aur.1266 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192

Use of Birth Certificates to Examine Maternal Occupational Exposures and Autism Spectrum Disorders in Offspring / Gayle C. WINDHAM in Autism Research, 6-1 (February 2013)  

Public ISBD [article]  inAutism Research > 6-1 (February 2013) . - p.57-63 Titre : Use of Birth Certificates to Examine Maternal Occupational Exposures and Autism Spectrum Disorders in Offspring Type de document : Texte imprimé et/ou numérique Auteurs : Gayle C. WINDHAM, Auteur ; Austin SUMNER, Auteur ; Sherian X. LI, Auteur ; Meredith C. ANDERSON, Auteur ; Elizabeth KATZ, Auteur ; Lisa A. CROEN, Auteur ; Judith K. GRETHER, Auteur Année de publication : 2013 Article en page(s) : p.57-63 Langues : Anglais (eng) Mots-clés : autism  exposures  occupation  chemicals Index. décimale : PER Périodiques Résumé : The continuing rise in the prevalence of autism spectrum disorders has led to heightened interest in the role of nongenetic factors, including exogenous exposures, but little research has been conducted. To explore a possible role in autism etiology, we used data available from our prior studies to examine potential occupational exposures, as these may occur at higher levels than environmental exposures. Parental occupation was obtained from birth certificates for 284 children with autism and 659 controls, born in 1994 in the San Francisco Bay Area. Self-reported occupation and industry were coded into eight exposure/chemical groups based on potential neurotoxicity or reprotoxicity by a board-certified physician in occupational medicine and an industrial hygienist blinded to case-control status. Mothers of autistic children were twice as likely to work in occupations considered exposed (14.4%) as mothers of controls (7.2%) (adjusted odds ratio [AOR] 2.3 [95% confidence interval {CI} 1.3–4.2]). The exposure categories of the greatest frequency among case mothers were exhaust and combustion products (AOR?=?12.0 [95% CI 1.4–104.6]) and disinfectants (AOR?=?4.0 [95% CI 1.4–12.0]). Paternal occupational exposure was not associated with autism, potentially consistent with a direct in-utero exposure effect. There are several limitations of this hypothesis-generating study, including lack of detail on workplace and job duties, leading to possible misclassification and low proportion exposed. However, this misclassification would not be biased by case-control status and is unlikely to explain the associations we did find, suggesting that further research on exogenous exposures may yield useful etiologic clues. En ligne : http://dx.doi.org/10.1002/aur.1275 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192 [article] Use of Birth Certificates to Examine Maternal Occupational Exposures and Autism Spectrum Disorders in Offspring [Texte imprimé et/ou numérique] / Gayle C. WINDHAM, Auteur ; Austin SUMNER, Auteur ; Sherian X. LI, Auteur ; Meredith C. ANDERSON, Auteur ; Elizabeth KATZ, Auteur ; Lisa A. CROEN, Auteur ; Judith K. GRETHER, Auteur . - 2013 . - p.57-63. Langues : Anglais (eng) in Autism Research > 6-1 (February 2013) . - p.57-63 Mots-clés : autism  exposures  occupation  chemicals Index. décimale : PER Périodiques Résumé : The continuing rise in the prevalence of autism spectrum disorders has led to heightened interest in the role of nongenetic factors, including exogenous exposures, but little research has been conducted. To explore a possible role in autism etiology, we used data available from our prior studies to examine potential occupational exposures, as these may occur at higher levels than environmental exposures. Parental occupation was obtained from birth certificates for 284 children with autism and 659 controls, born in 1994 in the San Francisco Bay Area. Self-reported occupation and industry were coded into eight exposure/chemical groups based on potential neurotoxicity or reprotoxicity by a board-certified physician in occupational medicine and an industrial hygienist blinded to case-control status. Mothers of autistic children were twice as likely to work in occupations considered exposed (14.4%) as mothers of controls (7.2%) (adjusted odds ratio [AOR] 2.3 [95% confidence interval {CI} 1.3–4.2]). The exposure categories of the greatest frequency among case mothers were exhaust and combustion products (AOR?=?12.0 [95% CI 1.4–104.6]) and disinfectants (AOR?=?4.0 [95% CI 1.4–12.0]). Paternal occupational exposure was not associated with autism, potentially consistent with a direct in-utero exposure effect. There are several limitations of this hypothesis-generating study, including lack of detail on workplace and job duties, leading to possible misclassification and low proportion exposed. However, this misclassification would not be biased by case-control status and is unlikely to explain the associations we did find, suggesting that further research on exogenous exposures may yield useful etiologic clues. En ligne : http://dx.doi.org/10.1002/aur.1275 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192

Lay Abstracts in Autism Research, 6-1 (February 2013)  

Public ISBD [article]  inAutism Research > 6-1 (February 2013) . - p.64-66 Titre : Lay Abstracts Type de document : Texte imprimé et/ou numérique Année de publication : 2013 Article en page(s) : p.64-66 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1281 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192 [article] Lay Abstracts [Texte imprimé et/ou numérique] . - 2013 . - p.64-66. Langues : Anglais (eng) in Autism Research > 6-1 (February 2013) . - p.64-66 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1281 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192

International Society for Autism Research News / Helen TAGER-FLUSBERG in Autism Research, 6-1 (February 2013)  

Public ISBD [article]  inAutism Research > 6-1 (February 2013) . - p.67-67 Titre : International Society for Autism Research News Type de document : Texte imprimé et/ou numérique Auteurs : Helen TAGER-FLUSBERG, Auteur Année de publication : 2013 Article en page(s) : p.67-67 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1282 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192 [article] International Society for Autism Research News [Texte imprimé et/ou numérique] / Helen TAGER-FLUSBERG, Auteur . - 2013 . - p.67-67. Langues : Anglais (eng) in Autism Research > 6-1 (February 2013) . - p.67-67 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1282 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192