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Auteur E. ROOF |
Documents disponibles écrits par cet auteur (2)
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Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome / E. M. DYKENS in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : E. M. DYKENS, Auteur ; E. ROOF, Auteur ; Hailee HUNT-HAWKINS, Auteur ; N. DANKNER, Auteur ; E. B. LEE, Auteur ; C. M. SHIVERS, Auteur ; C. DANIELL, Auteur ; S. J. KIM, Auteur Article en page(s) : p.18 Langues : Anglais (eng) Mots-clés : ASD screeners Autism spectrum disorder (ASD) Best-estimate diagnoses Insistence on sameness Prader-Willi syndrome (PWS) Repetitive behavior Social impairment Index. décimale : PER Périodiques Résumé : BACKGROUND: A small percentage of people with autism spectrum disorders (ASD) have alterations in chromosome 15q11.2-q3, the critical region for Prader-Willi syndrome (PWS). Data are limited, however, on the rates and characteristics of ASD in PWS. Previous estimates of ASD in PWS (25 to 41%) are questionable as they are based solely on autism screeners given to parents. Inaccurate diagnoses of ASD in PWS can mislead intervention and future research. METHODS: One hundred forty-six children and youth with PWS aged 4 to 21 years (M = 11) were assessed with the Autism Diagnostic Observation Schedule-2 (ADOS-2). An expert clinical team-made best-estimate ASD diagnoses based on ADOS-2 videotapes, calibrated severity scores, and children's developmental histories and indices of current functioning. Children were also administered the Kaufman Brief Intelligence Test-2, and parents completed the Repetitive Behavior Scale-Revised and Vineland Adaptive Behavior Scales. Scores were compared across children with PWS + ASD versus PWS only. The performance of an ASD screener, the Social Communication Questionnaire (SCQ) and the ADOS-2 were evaluated in relation to best-estimate diagnoses. RESULTS: Best-estimate diagnoses of ASD were made in 18 children, or 12.3% of the sample, and the majority of them had the maternal uniparental disomy (mUPD) PWS genetic subtype. Compared to the PWS-only group, children with PWS + ASD had lower verbal and composite IQ's and adaptive daily living and socialization skills, as well as elevated stereotypies and restricted interests. Regardless of ASD status, compulsivity and insistence on sameness in routines or events were seen in 76-100% of children and were robustly correlated with lower adaptive functioning. The SCQ yielded a 29-49% chance that screen-positive cases will indeed have ASD. The ADOS-2 had higher sensitivity, specificity and predictive values. Communication problems were seen in children who were ADOS-2 positive but deemed not to have ASD by the clinical team. CONCLUSIONS: Autism screeners should not be the sole index of probable ASD in PWS; children need to be directly observed and evaluated. Compulsivity and insistence on sameness are salient in PWS and likely impede adaptive functioning. Most children with PWS only evidenced sub-threshold problems in social interactions that could signal risks for other psychopathologies. En ligne : http://dx.doi.org/10.1186/s11689-017-9200-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.18[article] Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome [Texte imprimé et/ou numérique] / E. M. DYKENS, Auteur ; E. ROOF, Auteur ; Hailee HUNT-HAWKINS, Auteur ; N. DANKNER, Auteur ; E. B. LEE, Auteur ; C. M. SHIVERS, Auteur ; C. DANIELL, Auteur ; S. J. KIM, Auteur . - p.18.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.18
Mots-clés : ASD screeners Autism spectrum disorder (ASD) Best-estimate diagnoses Insistence on sameness Prader-Willi syndrome (PWS) Repetitive behavior Social impairment Index. décimale : PER Périodiques Résumé : BACKGROUND: A small percentage of people with autism spectrum disorders (ASD) have alterations in chromosome 15q11.2-q3, the critical region for Prader-Willi syndrome (PWS). Data are limited, however, on the rates and characteristics of ASD in PWS. Previous estimates of ASD in PWS (25 to 41%) are questionable as they are based solely on autism screeners given to parents. Inaccurate diagnoses of ASD in PWS can mislead intervention and future research. METHODS: One hundred forty-six children and youth with PWS aged 4 to 21 years (M = 11) were assessed with the Autism Diagnostic Observation Schedule-2 (ADOS-2). An expert clinical team-made best-estimate ASD diagnoses based on ADOS-2 videotapes, calibrated severity scores, and children's developmental histories and indices of current functioning. Children were also administered the Kaufman Brief Intelligence Test-2, and parents completed the Repetitive Behavior Scale-Revised and Vineland Adaptive Behavior Scales. Scores were compared across children with PWS + ASD versus PWS only. The performance of an ASD screener, the Social Communication Questionnaire (SCQ) and the ADOS-2 were evaluated in relation to best-estimate diagnoses. RESULTS: Best-estimate diagnoses of ASD were made in 18 children, or 12.3% of the sample, and the majority of them had the maternal uniparental disomy (mUPD) PWS genetic subtype. Compared to the PWS-only group, children with PWS + ASD had lower verbal and composite IQ's and adaptive daily living and socialization skills, as well as elevated stereotypies and restricted interests. Regardless of ASD status, compulsivity and insistence on sameness in routines or events were seen in 76-100% of children and were robustly correlated with lower adaptive functioning. The SCQ yielded a 29-49% chance that screen-positive cases will indeed have ASD. The ADOS-2 had higher sensitivity, specificity and predictive values. Communication problems were seen in children who were ADOS-2 positive but deemed not to have ASD by the clinical team. CONCLUSIONS: Autism screeners should not be the sole index of probable ASD in PWS; children need to be directly observed and evaluated. Compulsivity and insistence on sameness are salient in PWS and likely impede adaptive functioning. Most children with PWS only evidenced sub-threshold problems in social interactions that could signal risks for other psychopathologies. En ligne : http://dx.doi.org/10.1186/s11689-017-9200-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 Prader-Willi syndrome and autism spectrum disorders: an evolving story / E. M. DYKENS in Journal of Neurodevelopmental Disorders, 3-3 (September 2011)
[article]
Titre : Prader-Willi syndrome and autism spectrum disorders: an evolving story Type de document : Texte imprimé et/ou numérique Auteurs : E. M. DYKENS, Auteur ; E. LEE, Auteur ; E. ROOF, Auteur Article en page(s) : p.225-37 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is well-known for its genetic and phenotypic complexities. Caused by a lack of paternally derived imprinted material on chromosome 15q11-q13, individuals with PWS have mild to moderate intellectual disabilities, repetitive and compulsive behaviors, skin picking, tantrums, irritability, hyperphagia, and increased risks of obesity. Many individuals also have co-occurring autism spectrum disorders (ASDs), psychosis, and mood disorders. Although the PWS 15q11-q13 region confers risks for autism, relatively few studies have assessed autism symptoms in PWS or directly compared social, behavioral, and cognitive functioning across groups with autism or PWS. This article identifies areas of phenotypic overlap and difference between PWS and ASD in core autism symptoms and in such comorbidities as psychiatric disorders, and dysregulated sleep and eating. Though future studies are needed, PWS provides a promising alternative lens into specific symptoms and comorbidities of autism. En ligne : http://dx.doi.org/10.1007/s11689-011-9092-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343
in Journal of Neurodevelopmental Disorders > 3-3 (September 2011) . - p.225-37[article] Prader-Willi syndrome and autism spectrum disorders: an evolving story [Texte imprimé et/ou numérique] / E. M. DYKENS, Auteur ; E. LEE, Auteur ; E. ROOF, Auteur . - p.225-37.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 3-3 (September 2011) . - p.225-37
Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is well-known for its genetic and phenotypic complexities. Caused by a lack of paternally derived imprinted material on chromosome 15q11-q13, individuals with PWS have mild to moderate intellectual disabilities, repetitive and compulsive behaviors, skin picking, tantrums, irritability, hyperphagia, and increased risks of obesity. Many individuals also have co-occurring autism spectrum disorders (ASDs), psychosis, and mood disorders. Although the PWS 15q11-q13 region confers risks for autism, relatively few studies have assessed autism symptoms in PWS or directly compared social, behavioral, and cognitive functioning across groups with autism or PWS. This article identifies areas of phenotypic overlap and difference between PWS and ASD in core autism symptoms and in such comorbidities as psychiatric disorders, and dysregulated sleep and eating. Though future studies are needed, PWS provides a promising alternative lens into specific symptoms and comorbidities of autism. En ligne : http://dx.doi.org/10.1007/s11689-011-9092-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343