Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity / Chris OLIVER in Journal of Autism and Developmental Disorders, 41-8 (August 2011)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-8 (August 2011) . - p.1019-1032 Titre : Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity Type de document : Texte imprimé et/ou numérique Auteurs : Chris OLIVER, Auteur ; Katy BERG, Auteur ; Jo MOSS, Auteur ; Kate ARRON, Auteur ; Cheryl BURBIDGE, Auteur Année de publication : 2011 Article en page(s) : p.1019-1032 Langues : Anglais (eng) Mots-clés : Behavioral phenotype  Autism spectrum disorder  Hyperactivity  Impulsivity  Affect  Genetic syndromes Index. décimale : PER Périodiques Résumé : We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4–51). ASD symptomatology was heightened in CdLS and FXS. High levels of impulsivity were seen in SMS, AS, CdCS, FXS and adults with CdLS. Negative affect was prominent in adults with CdLS, while positive affect was prominent in adults with AS and FXS. Heightened levels of overactivity and impulsivity were identified in FXS, AS and SMS while low levels were identified in PWS. These findings confirm and extend previously reported behavioral phenotypes. En ligne : http://dx.doi.org/10.1007/s10803-010-1125-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=132 [article] Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity [Texte imprimé et/ou numérique] / Chris OLIVER, Auteur ; Katy BERG, Auteur ; Jo MOSS, Auteur ; Kate ARRON, Auteur ; Cheryl BURBIDGE, Auteur . - 2011 . - p.1019-1032. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 41-8 (August 2011) . - p.1019-1032 Mots-clés : Behavioral phenotype  Autism spectrum disorder  Hyperactivity  Impulsivity  Affect  Genetic syndromes Index. décimale : PER Périodiques Résumé : We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4–51). ASD symptomatology was heightened in CdLS and FXS. High levels of impulsivity were seen in SMS, AS, CdCS, FXS and adults with CdLS. Negative affect was prominent in adults with CdLS, while positive affect was prominent in adults with AS and FXS. Heightened levels of overactivity and impulsivity were identified in FXS, AS and SMS while low levels were identified in PWS. These findings confirm and extend previously reported behavioral phenotypes. En ligne : http://dx.doi.org/10.1007/s10803-010-1125-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=132

Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile? / Chris OLIVER in Journal of Child Psychology and Psychiatry, 48-6 (June 2007)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 48-6 (June 2007) . - p.571–579 Titre : Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile? Type de document : Texte imprimé et/ou numérique Auteurs : Chris OLIVER, Auteur ; Kate HORSLER, Auteur ; Katy BERG, Auteur ; Gail BELLAMY, Auteur ; Katie DICK, Auteur ; Emily GRIFFITHS, Auteur Année de publication : 2007 Article en page(s) : p.571–579 Langues : Anglais (eng) Mots-clés : Genomic-imprinting Angelman-syndrome Prader-Willi-syndrome kinship-theory emotion-signalling behavioural-phenotype behavioural-genetics intellectual-disability prosocial-behaviour Index. décimale : PER Périodiques Résumé : Kinship theory (or the genomic conflict hypothesis) proposes that the phenotypic effects of genomic imprinting arise from conflict between paternally and maternally inherited alleles. A prediction arising for social behaviour from this theory is that imbalance in this conflict resulting from a deletion of a maternally imprinted gene, as in Angelman syndrome (AS), will result in a behavioural phenotype that should evidence behaviours that increase access to maternally provided social resources (adult contact). Method: Observation of the social behaviour of children with AS (n = 13), caused by a deletion at 15q11-q13, and a matched comparison group (n = 10) was undertaken for four hours in a socially competitive setting and the effect of adult attention on child behaviours and the effect of child smiling on adult behaviours evaluated using group comparisons and observational lag sequential analyses. Results: The AS group smiled more than the comparison group in all settings, which had different levels of adult attention, and more when the level of adult attention was high. Smiling by children with AS evoked higher levels of adult attention, eye contact and smiling both than by chance and in comparison to other children and this effect was sustained for 30 s to 50 s. Smiling by children with AS was frequently preceded by child initiated contact toward the adult. Discussion: The results are consistent with a kinship theory explanation of the function of heightened levels of sociability and smiling in Angelman syndrome and provide support for an emotion signalling interpretation of the mechanism by which smiling accesses social resources. Further research on other behaviours characteristic of Angelman and Prader-Willi syndromes warrant examination from this perspective. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2007.01736.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=103 [article] Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile? [Texte imprimé et/ou numérique] / Chris OLIVER, Auteur ; Kate HORSLER, Auteur ; Katy BERG, Auteur ; Gail BELLAMY, Auteur ; Katie DICK, Auteur ; Emily GRIFFITHS, Auteur . - 2007 . - p.571–579. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 48-6 (June 2007) . - p.571–579 Mots-clés : Genomic-imprinting Angelman-syndrome Prader-Willi-syndrome kinship-theory emotion-signalling behavioural-phenotype behavioural-genetics intellectual-disability prosocial-behaviour Index. décimale : PER Périodiques Résumé : Kinship theory (or the genomic conflict hypothesis) proposes that the phenotypic effects of genomic imprinting arise from conflict between paternally and maternally inherited alleles. A prediction arising for social behaviour from this theory is that imbalance in this conflict resulting from a deletion of a maternally imprinted gene, as in Angelman syndrome (AS), will result in a behavioural phenotype that should evidence behaviours that increase access to maternally provided social resources (adult contact). Method: Observation of the social behaviour of children with AS (n = 13), caused by a deletion at 15q11-q13, and a matched comparison group (n = 10) was undertaken for four hours in a socially competitive setting and the effect of adult attention on child behaviours and the effect of child smiling on adult behaviours evaluated using group comparisons and observational lag sequential analyses. Results: The AS group smiled more than the comparison group in all settings, which had different levels of adult attention, and more when the level of adult attention was high. Smiling by children with AS evoked higher levels of adult attention, eye contact and smiling both than by chance and in comparison to other children and this effect was sustained for 30 s to 50 s. Smiling by children with AS was frequently preceded by child initiated contact toward the adult. Discussion: The results are consistent with a kinship theory explanation of the function of heightened levels of sociability and smiling in Angelman syndrome and provide support for an emotion signalling interpretation of the mechanism by which smiling accesses social resources. Further research on other behaviours characteristic of Angelman and Prader-Willi syndromes warrant examination from this perspective. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2007.01736.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=103

Repetitive Behavior in Rubinstein–Taybi Syndrome: Parallels with Autism Spectrum Phenomenology / Jane WAITE in Journal of Autism and Developmental Disorders, 45-5 (May 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-5 (May 2015) . - p.1238-1253 Titre : Repetitive Behavior in Rubinstein–Taybi Syndrome: Parallels with Autism Spectrum Phenomenology Type de document : Texte imprimé et/ou numérique Auteurs : Jane WAITE, Auteur ; Joanna MOSS, Auteur ; Sarah R. BECK, Auteur ; Caroline RICHARDS, Auteur ; Lisa NELSON, Auteur ; Kate ARRON, Auteur ; Cheryl BURBIDGE, Auteur ; Katy BERG, Auteur ; Chris OLIVER, Auteur Article en page(s) : p.1238-1253 Langues : Anglais (eng) Mots-clés : Rubinstein–Taybi syndrome  Autism spectrum disorder (ASD)  Repetitive behavior  Ritualistic behavior Index. décimale : PER Périodiques Résumé : Syndrome specific repetitive behavior profiles have been described previously. A detailed profile is absent for Rubinstein–Taybi syndrome (RTS). The Repetitive Behaviour Questionnaire and Social Communication Questionnaire were completed for children and adults with RTS (N = 87), Fragile-X (N = 196) and Down (N = 132) syndromes, and individuals reaching cut-off for autism spectrum disorder (N = 228). Total and matched group analyses were conducted. A phenotypic profile of repetitive behavior was found in RTS. The majority of behaviors in RTS were not associated with social-communication deficits or degree of disability. Repetitive behavior should be studied at a fine-grained level. A dissociation of the triad of impairments might be evident in RTS. En ligne : http://dx.doi.org/10.1007/s10803-014-2283-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259 [article] Repetitive Behavior in Rubinstein–Taybi Syndrome: Parallels with Autism Spectrum Phenomenology [Texte imprimé et/ou numérique] / Jane WAITE, Auteur ; Joanna MOSS, Auteur ; Sarah R. BECK, Auteur ; Caroline RICHARDS, Auteur ; Lisa NELSON, Auteur ; Kate ARRON, Auteur ; Cheryl BURBIDGE, Auteur ; Katy BERG, Auteur ; Chris OLIVER, Auteur . - p.1238-1253. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-5 (May 2015) . - p.1238-1253 Mots-clés : Rubinstein–Taybi syndrome  Autism spectrum disorder (ASD)  Repetitive behavior  Ritualistic behavior Index. décimale : PER Périodiques Résumé : Syndrome specific repetitive behavior profiles have been described previously. A detailed profile is absent for Rubinstein–Taybi syndrome (RTS). The Repetitive Behaviour Questionnaire and Social Communication Questionnaire were completed for children and adults with RTS (N = 87), Fragile-X (N = 196) and Down (N = 132) syndromes, and individuals reaching cut-off for autism spectrum disorder (N = 228). Total and matched group analyses were conducted. A phenotypic profile of repetitive behavior was found in RTS. The majority of behaviors in RTS were not associated with social-communication deficits or degree of disability. Repetitive behavior should be studied at a fine-grained level. A dissociation of the triad of impairments might be evident in RTS. En ligne : http://dx.doi.org/10.1007/s10803-014-2283-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259

The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes / Joanna MOSS in Journal of Autism and Developmental Disorders, 39-4 (April 2009)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 39-4 (April 2009) . - p.572-588 Titre : The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes Type de document : Texte imprimé et/ou numérique Auteurs : Joanna MOSS, Auteur ; Chris OLIVER, Auteur ; Katy BERG, Auteur ; Kate ARRON, Auteur ; Cheryl BURBIDGE, Auteur Année de publication : 2009 Article en page(s) : p.572-588 Langues : Anglais (eng) Mots-clés : Behavioral-phenotype Autism-spectrum-disorder Repetitive-behavior Compulsive-behavior Stereotyped-behavior Index. décimale : PER Périodiques Résumé : We investigated the prevalence and phenomenology of repetitive behavior in genetic syndromes to detail profiles of behavior. The Repetitive Behaviour Questionnaire (RBQ) provides fine-grained identification of repetitive behaviors. The RBQ was employed to examine repetitive behavior in Angelman (N = 104), Cornelia de Lange (N = 101), Cri-du-Chat (N = 58), Fragile X (N = 191), Prader-Willi (N = 189), Lowe (N = 56) and Smith-Magenis (N = 42) syndromes and individuals with intellectual disability of heterogeneous aetiology (N = 56). Repetitive behavior was variable across syndromes. Fragile X syndrome scored highly on all subscales. Angelman syndrome demonstrated a significantly lowered probability for most behaviors. Prader-Willi, Cri-du-Chat and Smith-Magenis syndrome evidenced unique profiles of repetitive behavior. There is extreme heterogeneity of repetitive behavior across genetic syndromes, highlighting syndrome specific profiles. En ligne : http://dx.doi.org/10.1007/s10803-008-0655-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=706 [article] The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes [Texte imprimé et/ou numérique] / Joanna MOSS, Auteur ; Chris OLIVER, Auteur ; Katy BERG, Auteur ; Kate ARRON, Auteur ; Cheryl BURBIDGE, Auteur . - 2009 . - p.572-588. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 39-4 (April 2009) . - p.572-588 Mots-clés : Behavioral-phenotype Autism-spectrum-disorder Repetitive-behavior Compulsive-behavior Stereotyped-behavior Index. décimale : PER Périodiques Résumé : We investigated the prevalence and phenomenology of repetitive behavior in genetic syndromes to detail profiles of behavior. The Repetitive Behaviour Questionnaire (RBQ) provides fine-grained identification of repetitive behaviors. The RBQ was employed to examine repetitive behavior in Angelman (N = 104), Cornelia de Lange (N = 101), Cri-du-Chat (N = 58), Fragile X (N = 191), Prader-Willi (N = 189), Lowe (N = 56) and Smith-Magenis (N = 42) syndromes and individuals with intellectual disability of heterogeneous aetiology (N = 56). Repetitive behavior was variable across syndromes. Fragile X syndrome scored highly on all subscales. Angelman syndrome demonstrated a significantly lowered probability for most behaviors. Prader-Willi, Cri-du-Chat and Smith-Magenis syndrome evidenced unique profiles of repetitive behavior. There is extreme heterogeneity of repetitive behavior across genetic syndromes, highlighting syndrome specific profiles. En ligne : http://dx.doi.org/10.1007/s10803-008-0655-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=706

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