Correction to: Physical health in children with neurodevelopmental disorders / S. ALABAF in Journal of Autism and Developmental Disorders, 49-1 (January 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.96-97 Titre : Correction to: Physical health in children with neurodevelopmental disorders Type de document : Texte imprimé et/ou numérique Auteurs : S. ALABAF, Auteur ; C. GILLBERG, Auteur ; S. LUNDSTRÖM, Auteur ; P. LICHTENSTEIN, Auteur ; N. KEREKES, Auteur ; M. RASTAM, Auteur ; Henrik ANCKARSATER, Auteur Article en page(s) : p.96-97 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The original version of this article unfortunately contained a mistake in Fig. 2 part labels, the label "d" was incorrectly labelled as "c" and the subsequent labels should be corrected as d, e, and f. The corrected Fig. 2 is given below. En ligne : http://dx.doi.org/10.1007/s10803-018-3758-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=376 [article] Correction to: Physical health in children with neurodevelopmental disorders [Texte imprimé et/ou numérique] / S. ALABAF, Auteur ; C. GILLBERG, Auteur ; S. LUNDSTRÖM, Auteur ; P. LICHTENSTEIN, Auteur ; N. KEREKES, Auteur ; M. RASTAM, Auteur ; Henrik ANCKARSATER, Auteur . - p.96-97. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.96-97 Index. décimale : PER Périodiques Résumé : The original version of this article unfortunately contained a mistake in Fig. 2 part labels, the label "d" was incorrectly labelled as "c" and the subsequent labels should be corrected as d, e, and f. The corrected Fig. 2 is given below. En ligne : http://dx.doi.org/10.1007/s10803-018-3758-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=376

Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3 / S. HOSIE in Autism Research, 12-7 (July 2019)  

Public ISBD [article]  inAutism Research > 12-7 (July 2019) . - p.1043-1056 Titre : Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3 Type de document : Texte imprimé et/ou numérique Auteurs : S. HOSIE, Auteur ; M. ELLIS, Auteur ; M. SWAMINATHAN, Auteur ; F. RAMALHOSA, Auteur ; G. O. SEGER, Auteur ; Gayathri K. BALASURIYA, Auteur ; C. GILLBERG, Auteur ; M. RASTAM, Auteur ; L. CHURILOV, Auteur ; S. J. MCKEOWN, Auteur ; N. YALCINKAYA, Auteur ; P. URVIL, Auteur ; Tor SAVIDGE, Auteur ; C. A. BELL, Auteur ; O. BODIN, Auteur ; J. WOOD, Auteur ; A. E. FRANKS, Auteur ; Joel C. BORNSTEIN, Auteur ; E. L. HILL-YARDIN, Auteur Année de publication : 2019 Article en page(s) : p.1043-1056 Langues : Anglais (eng) Mots-clés : autism  gastrointestinal symptoms  gut motility  immunofluorescence  mouse  neuroligin-3 Index. décimale : PER Périodiques Résumé : Gastrointestinal (GI) problems constitute an important comorbidity in many patients with autism. Multiple mutations in the neuroligin family of synaptic adhesion molecules are implicated in autism, however whether they are expressed and impact GI function via changes in the enteric nervous system is unknown. We report the GI symptoms of two brothers with autism and an R451C mutation in Nlgn3 encoding the synaptic adhesion protein, neuroligin-3. We confirm the presence of an array of synaptic genes in the murine GI tract and investigate the impact of impaired synaptic protein expression in mice carrying the human neuroligin-3 R451C missense mutation (NL3(R451C) ). Assessing in vivo gut dysfunction, we report faster small intestinal transit in NL3(R451C) compared to wild-type mice. Using an ex vivo colonic motility assay, we show increased sensitivity to GABAA receptor modulation in NL3(R451C) mice, a well-established Central Nervous System (CNS) feature associated with this mutation. We further show increased numbers of small intestine myenteric neurons in NL3(R451C) mice. Although we observed altered sensitivity to GABAA receptor modulators in the colon, there was no change in colonic neuronal numbers including the number of GABA-immunoreactive myenteric neurons. We further identified altered fecal microbial communities in NL3(R451C) mice. These results suggest that the R451C mutation affects small intestinal and colonic function and alter neuronal numbers in the small intestine as well as impact fecal microbes. Our findings identify a novel GI phenotype associated with the R451C mutation and highlight NL3(R451C) mice as a useful preclinical model of GI dysfunction in autism. Autism Res 2019, 12: 1043-1056. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: People with autism commonly experience gastrointestinal problems, however the cause is unknown. We report gut symptoms in patients with the autism-associated R451C mutation encoding the neuroligin-3 protein. We show that many of the genes implicated in autism are expressed in mouse gut. The neuroligin-3 R451C mutation alters the enteric nervous system, causes gastrointestinal dysfunction, and disrupts gut microbe populations in mice. Gut dysfunction in autism could be due to mutations that affect neuronal communication. En ligne : http://dx.doi.org/10.1002/aur.2127 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3 [Texte imprimé et/ou numérique] / S. HOSIE, Auteur ; M. ELLIS, Auteur ; M. SWAMINATHAN, Auteur ; F. RAMALHOSA, Auteur ; G. O. SEGER, Auteur ; Gayathri K. BALASURIYA, Auteur ; C. GILLBERG, Auteur ; M. RASTAM, Auteur ; L. CHURILOV, Auteur ; S. J. MCKEOWN, Auteur ; N. YALCINKAYA, Auteur ; P. URVIL, Auteur ; Tor SAVIDGE, Auteur ; C. A. BELL, Auteur ; O. BODIN, Auteur ; J. WOOD, Auteur ; A. E. FRANKS, Auteur ; Joel C. BORNSTEIN, Auteur ; E. L. HILL-YARDIN, Auteur . - 2019 . - p.1043-1056. Langues : Anglais (eng) in Autism Research > 12-7 (July 2019) . - p.1043-1056 Mots-clés : autism  gastrointestinal symptoms  gut motility  immunofluorescence  mouse  neuroligin-3 Index. décimale : PER Périodiques Résumé : Gastrointestinal (GI) problems constitute an important comorbidity in many patients with autism. Multiple mutations in the neuroligin family of synaptic adhesion molecules are implicated in autism, however whether they are expressed and impact GI function via changes in the enteric nervous system is unknown. We report the GI symptoms of two brothers with autism and an R451C mutation in Nlgn3 encoding the synaptic adhesion protein, neuroligin-3. We confirm the presence of an array of synaptic genes in the murine GI tract and investigate the impact of impaired synaptic protein expression in mice carrying the human neuroligin-3 R451C missense mutation (NL3(R451C) ). Assessing in vivo gut dysfunction, we report faster small intestinal transit in NL3(R451C) compared to wild-type mice. Using an ex vivo colonic motility assay, we show increased sensitivity to GABAA receptor modulation in NL3(R451C) mice, a well-established Central Nervous System (CNS) feature associated with this mutation. We further show increased numbers of small intestine myenteric neurons in NL3(R451C) mice. Although we observed altered sensitivity to GABAA receptor modulators in the colon, there was no change in colonic neuronal numbers including the number of GABA-immunoreactive myenteric neurons. We further identified altered fecal microbial communities in NL3(R451C) mice. These results suggest that the R451C mutation affects small intestinal and colonic function and alter neuronal numbers in the small intestine as well as impact fecal microbes. Our findings identify a novel GI phenotype associated with the R451C mutation and highlight NL3(R451C) mice as a useful preclinical model of GI dysfunction in autism. Autism Res 2019, 12: 1043-1056. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: People with autism commonly experience gastrointestinal problems, however the cause is unknown. We report gut symptoms in patients with the autism-associated R451C mutation encoding the neuroligin-3 protein. We show that many of the genes implicated in autism are expressed in mouse gut. The neuroligin-3 R451C mutation alters the enteric nervous system, causes gastrointestinal dysfunction, and disrupts gut microbe populations in mice. Gut dysfunction in autism could be due to mutations that affect neuronal communication. En ligne : http://dx.doi.org/10.1002/aur.2127 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

Motor function and perception in children with neuropsychiatric and conduct problems: results from a population based twin study / P. GUSTAFSSON in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.11 Titre : Motor function and perception in children with neuropsychiatric and conduct problems: results from a population based twin study Type de document : Texte imprimé et/ou numérique Auteurs : P. GUSTAFSSON, Auteur ; N. KEREKES, Auteur ; Henrik ANCKARSATER, Auteur ; P. LICHTENSTEIN, Auteur ; C. GILLBERG, Auteur ; M. RASTAM, Auteur Article en page(s) : p.11 Langues : Anglais (eng) Mots-clés : A-tac  Attention-Deficit/Hyperactivity Disorder  Autism Spectrum Disorder  Conduct Disorder  Motor control  Perception Index. décimale : PER Périodiques Résumé : BACKGROUND: Children with early symptomatic psychiatric disorders such as Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) have been found to have high rates of motor and/or perception difficulties. However, there have been few large-scale studies reporting on the association between Conduct Disorder (CD) and motor/perception functions. The aim of the present study was to investigate how motor function and perception relate to measures of ADHD, ASD, and CD. METHODS: Parents of 16,994 Swedish twins (ages nine and twelve years) were interviewed using the Autism-Tics, ADHD and other Comorbidities inventory (A-TAC), which has been validated as a screening instrument for early onset child psychiatric disorders and symptoms. Associations between categorical variables of scoring above previously validated cut-off values for diagnosing ADHD, ASD, and CD on the one hand and motor and/or perception problems on the other hand were analysed using cross-tabulations, and the Fisher exact test. Associations between the continuous scores for ADHD, ASD, CD, and the subdomains Concentration/Attention, Impulsiveness/Activity, Flexibility, Social Interaction and Language, and the categorical factors age and gender, on the one hand, and the dependent dichotomic variables Motor control and Perception problems, on the other hand, were analysed using binary logistic regression in general estimated equation models. RESULTS: Male gender was associated with increased risk of Motor control and/or Perception problems. Children scoring above the cut-off for ADHD, ASD, and/or CD, but not those who were 'CD positive' but 'ADHD/ASD negative', had more Motor control and/or Perception problems, compared with children who were screen-negative for all three diagnoses. In the multivariable model, CD and Impulsiveness/Activity had no positive associations with Motor control and/or Perception problems. CONCLUSIONS: CD symptoms or problems with Impulsiveness/Activity were associated with Motor control or Perception problems only in the presence of ASD symptoms and/or symptoms of inattention. Our results indicate that children with CD but without ASD or inattention do not show a deviant development of motor and perceptual functions. Therefore, all children with CD should be examined concerning motor control and perception. If problems are present, a suspicion of ADHD and/or ASD should be raised. En ligne : http://dx.doi.org/10.1186/1866-1955-6-11 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Motor function and perception in children with neuropsychiatric and conduct problems: results from a population based twin study [Texte imprimé et/ou numérique] / P. GUSTAFSSON, Auteur ; N. KEREKES, Auteur ; Henrik ANCKARSATER, Auteur ; P. LICHTENSTEIN, Auteur ; C. GILLBERG, Auteur ; M. RASTAM, Auteur . - p.11. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.11 Mots-clés : A-tac  Attention-Deficit/Hyperactivity Disorder  Autism Spectrum Disorder  Conduct Disorder  Motor control  Perception Index. décimale : PER Périodiques Résumé : BACKGROUND: Children with early symptomatic psychiatric disorders such as Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) have been found to have high rates of motor and/or perception difficulties. However, there have been few large-scale studies reporting on the association between Conduct Disorder (CD) and motor/perception functions. The aim of the present study was to investigate how motor function and perception relate to measures of ADHD, ASD, and CD. METHODS: Parents of 16,994 Swedish twins (ages nine and twelve years) were interviewed using the Autism-Tics, ADHD and other Comorbidities inventory (A-TAC), which has been validated as a screening instrument for early onset child psychiatric disorders and symptoms. Associations between categorical variables of scoring above previously validated cut-off values for diagnosing ADHD, ASD, and CD on the one hand and motor and/or perception problems on the other hand were analysed using cross-tabulations, and the Fisher exact test. Associations between the continuous scores for ADHD, ASD, CD, and the subdomains Concentration/Attention, Impulsiveness/Activity, Flexibility, Social Interaction and Language, and the categorical factors age and gender, on the one hand, and the dependent dichotomic variables Motor control and Perception problems, on the other hand, were analysed using binary logistic regression in general estimated equation models. RESULTS: Male gender was associated with increased risk of Motor control and/or Perception problems. Children scoring above the cut-off for ADHD, ASD, and/or CD, but not those who were 'CD positive' but 'ADHD/ASD negative', had more Motor control and/or Perception problems, compared with children who were screen-negative for all three diagnoses. In the multivariable model, CD and Impulsiveness/Activity had no positive associations with Motor control and/or Perception problems. CONCLUSIONS: CD symptoms or problems with Impulsiveness/Activity were associated with Motor control or Perception problems only in the presence of ASD symptoms and/or symptoms of inattention. Our results indicate that children with CD but without ASD or inattention do not show a deviant development of motor and perceptual functions. Therefore, all children with CD should be examined concerning motor control and perception. If problems are present, a suspicion of ADHD and/or ASD should be raised. En ligne : http://dx.doi.org/10.1186/1866-1955-6-11 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

Physical health in children with neurodevelopmental disorders / S. ALABAF in Journal of Autism and Developmental Disorders, 49-1 (January 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.83-95 Titre : Physical health in children with neurodevelopmental disorders Type de document : Texte imprimé et/ou numérique Auteurs : S. ALABAF, Auteur ; C. GILLBERG, Auteur ; S. LUNDSTRÖM, Auteur ; P. LICHTENSTEIN, Auteur ; N. KEREKES, Auteur ; M. RASTAM, Auteur ; Henrik ANCKARSATER, Auteur Article en page(s) : p.83-95 Langues : Anglais (eng) Mots-clés : Attention-deficit/hyperactivity disorder (ADHD)  Autism spectrum disorder (ASD)  Learning disorder (LD)  Neurodevelopmental disorders  Physical health  Twins Index. décimale : PER Périodiques Résumé : With increasing numbers of children being diagnosed with neurodevelopmental disorders (NDDs) attention has been drawn to these children's physical health. We aimed to identify the prevalence of defined physical problems (epilepsy, migraine, asthma, cancer, diabetes, psoriasis, lactose intolerance, celiac disease, diarrhea, constipation, daytime enuresis, encopresis) in a nationwide population of 9- and 12-year-old twins subdivided into those with and without indications of NDDs. Parents of 28,058 twins participated in a well-validated telephone interview regarding their children's mental health and answered questions about their physical problems. The results indicate a high rate of physical problems in children with NDDs, particularly in those with indications of the presence of combinations of several NDDs. En ligne : http://dx.doi.org/10.1007/s10803-018-3697-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=376 [article] Physical health in children with neurodevelopmental disorders [Texte imprimé et/ou numérique] / S. ALABAF, Auteur ; C. GILLBERG, Auteur ; S. LUNDSTRÖM, Auteur ; P. LICHTENSTEIN, Auteur ; N. KEREKES, Auteur ; M. RASTAM, Auteur ; Henrik ANCKARSATER, Auteur . - p.83-95. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.83-95 Mots-clés : Attention-deficit/hyperactivity disorder (ADHD)  Autism spectrum disorder (ASD)  Learning disorder (LD)  Neurodevelopmental disorders  Physical health  Twins Index. décimale : PER Périodiques Résumé : With increasing numbers of children being diagnosed with neurodevelopmental disorders (NDDs) attention has been drawn to these children's physical health. We aimed to identify the prevalence of defined physical problems (epilepsy, migraine, asthma, cancer, diabetes, psoriasis, lactose intolerance, celiac disease, diarrhea, constipation, daytime enuresis, encopresis) in a nationwide population of 9- and 12-year-old twins subdivided into those with and without indications of NDDs. Parents of 28,058 twins participated in a well-validated telephone interview regarding their children's mental health and answered questions about their physical problems. The results indicate a high rate of physical problems in children with NDDs, particularly in those with indications of the presence of combinations of several NDDs. En ligne : http://dx.doi.org/10.1007/s10803-018-3697-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=376

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