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Résultat de la recherche
6 recherche sur le mot-clé 'Prader–Willi syndrome'




Assessment of Pretend Play in Prader–Willi Syndrome: A Direct Comparison to Autism Spectrum Disorder / Olena ZYGA in Journal of Autism and Developmental Disorders, 45-4 (April 2015)
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Titre : Assessment of Pretend Play in Prader–Willi Syndrome: A Direct Comparison to Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Olena ZYGA, Auteur ; Sandra RUSS, Auteur ; Carolyn E. IEVERS-LANDIS, Auteur ; Anastasia DIMITROPOULOS, Auteur Article en page(s) : p.975-987 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Prader–Willi syndrome Pretend play Social skills Index. décimale : PER Périodiques Résumé : Children with Prader–Willi syndrome (PWS) are at risk for autism spectrum disorder (ASD), including pervasive social deficits. While play impairments in ASD are well documented, play abilities in PWS have not been evaluated. Fourteen children with PWS and ten children with ASD were administered the Autism Diagnostic Observation Schedule (ADOS) (Lord et al. in Autism Diagnostic Observation Schedule manual. Western Psychological Services, Los Angeles, 2006) as part of a larger project. A modified Affect in Play Scale (APS; Russ in Play in child development and psychotherapy: toward empirically supported practice. Lawrence Erlbaum Associates Publishers, Mahwah, 2004; Pretend play in childhood: foundation of adult creativity. APA Books, Washington, 2014) was used to score ADOS play activities. Results indicate both groups scored below normative data on measures of imagination, organization, and affective expression during individual play. In addition, the inclusion of a play partner in both groups increased all scaled scores on the APS. These findings suggest children with PWS show impaired pretend play abilities similar to ASD. Further research is warranted and should focus on constructing and validating programs aimed at improving symbolic and functional play abilities within these populations. En ligne : http://dx.doi.org/10.1007/s10803-014-2252-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258
in Journal of Autism and Developmental Disorders > 45-4 (April 2015) . - p.975-987[article] Assessment of Pretend Play in Prader–Willi Syndrome: A Direct Comparison to Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Olena ZYGA, Auteur ; Sandra RUSS, Auteur ; Carolyn E. IEVERS-LANDIS, Auteur ; Anastasia DIMITROPOULOS, Auteur . - p.975-987.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 45-4 (April 2015) . - p.975-987
Mots-clés : Autism spectrum disorder Prader–Willi syndrome Pretend play Social skills Index. décimale : PER Périodiques Résumé : Children with Prader–Willi syndrome (PWS) are at risk for autism spectrum disorder (ASD), including pervasive social deficits. While play impairments in ASD are well documented, play abilities in PWS have not been evaluated. Fourteen children with PWS and ten children with ASD were administered the Autism Diagnostic Observation Schedule (ADOS) (Lord et al. in Autism Diagnostic Observation Schedule manual. Western Psychological Services, Los Angeles, 2006) as part of a larger project. A modified Affect in Play Scale (APS; Russ in Play in child development and psychotherapy: toward empirically supported practice. Lawrence Erlbaum Associates Publishers, Mahwah, 2004; Pretend play in childhood: foundation of adult creativity. APA Books, Washington, 2014) was used to score ADOS play activities. Results indicate both groups scored below normative data on measures of imagination, organization, and affective expression during individual play. In addition, the inclusion of a play partner in both groups increased all scaled scores on the APS. These findings suggest children with PWS show impaired pretend play abilities similar to ASD. Further research is warranted and should focus on constructing and validating programs aimed at improving symbolic and functional play abilities within these populations. En ligne : http://dx.doi.org/10.1007/s10803-014-2252-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258 Evaluating the Feasibility of a Play-Based Telehealth Intervention Program for Children with Prader–Willi Syndrome / Anastasia DIMITROPOULOS in Journal of Autism and Developmental Disorders, 47-9 (September 2017)
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Titre : Evaluating the Feasibility of a Play-Based Telehealth Intervention Program for Children with Prader–Willi Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Anastasia DIMITROPOULOS, Auteur ; Olena ZYGA, Auteur ; Sandra RUSS, Auteur Article en page(s) : p.2814-2825 Langues : Anglais (eng) Mots-clés : Prader–Willi syndrome Telehealth Play-based intervention Video conferencing Index. décimale : PER Périodiques Résumé : Here we report the feasibility and acceptability of telehealth for direct intervention in children with Prader–Willi syndrome (PWS). Children with PWS have social-cognitive challenges that are similar to children with ASD. However, developing behavioral interventions for individuals with PWS is faced with the significant challenge of enrolling enough participants for local studies where multiple visits per week are indicated for effective intervention. This study delivered a 6-week play-based intervention via telehealth directly to eight children with PWS (6–12 years). Participants completed the program with minimal behavioral or technological difficulty (#sessions M?=?11.875/12). Behavioral Intervention Rating Scale results indicate good acceptability (M?=?5.54/6.00). These findings support using telehealth in rare disorders and delivering intervention directly to children with developmental delays through this modality. En ligne : https://doi.org/10.1007/s10803-017-3196-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=315
in Journal of Autism and Developmental Disorders > 47-9 (September 2017) . - p.2814-2825[article] Evaluating the Feasibility of a Play-Based Telehealth Intervention Program for Children with Prader–Willi Syndrome [Texte imprimé et/ou numérique] / Anastasia DIMITROPOULOS, Auteur ; Olena ZYGA, Auteur ; Sandra RUSS, Auteur . - p.2814-2825.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 47-9 (September 2017) . - p.2814-2825
Mots-clés : Prader–Willi syndrome Telehealth Play-based intervention Video conferencing Index. décimale : PER Périodiques Résumé : Here we report the feasibility and acceptability of telehealth for direct intervention in children with Prader–Willi syndrome (PWS). Children with PWS have social-cognitive challenges that are similar to children with ASD. However, developing behavioral interventions for individuals with PWS is faced with the significant challenge of enrolling enough participants for local studies where multiple visits per week are indicated for effective intervention. This study delivered a 6-week play-based intervention via telehealth directly to eight children with PWS (6–12 years). Participants completed the program with minimal behavioral or technological difficulty (#sessions M?=?11.875/12). Behavioral Intervention Rating Scale results indicate good acceptability (M?=?5.54/6.00). These findings support using telehealth in rare disorders and delivering intervention directly to children with developmental delays through this modality. En ligne : https://doi.org/10.1007/s10803-017-3196-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=315 Skin Picking in People with Prader-Willi Syndrome: Phenomenology and Management / Leah E. BULL in Journal of Autism and Developmental Disorders, 51-1 (January 2021)
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Titre : Skin Picking in People with Prader-Willi Syndrome: Phenomenology and Management Type de document : Texte imprimé et/ou numérique Auteurs : Leah E. BULL, Auteur ; C. OLIVER, Auteur ; Kate Anne WOODCOCK, Auteur Article en page(s) : p.286-297 Langues : Anglais (eng) Mots-clés : Neurodevelopmental disorder Prader–Willi syndrome Self-injurious behaviour Skin picking Index. décimale : PER Périodiques Résumé : Skin picking is highly prevalent in people with Prader-Willi syndrome (PWS). This study addressed the temporal (frequency, duration) and wider characteristics (e.g. type of skin picked, apparent motivations, or management strategies) of skin picking to inform intervention strategies. Nineteen parents/carers who observe skin picking shown by the person they care for completed a semi-structured interview. Results were consistent with previous research but advanced the field by finding that most participants picked skin with an imperfection and that parents/carers most commonly use distraction as a management strategy. Interventions that are behavioural, support emotion regulation and/ or are used in the typically developing population are therefore likely to be beneficial for future research. En ligne : http://dx.doi.org/10.1007/s10803-020-04504-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=437
in Journal of Autism and Developmental Disorders > 51-1 (January 2021) . - p.286-297[article] Skin Picking in People with Prader-Willi Syndrome: Phenomenology and Management [Texte imprimé et/ou numérique] / Leah E. BULL, Auteur ; C. OLIVER, Auteur ; Kate Anne WOODCOCK, Auteur . - p.286-297.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-1 (January 2021) . - p.286-297
Mots-clés : Neurodevelopmental disorder Prader–Willi syndrome Self-injurious behaviour Skin picking Index. décimale : PER Périodiques Résumé : Skin picking is highly prevalent in people with Prader-Willi syndrome (PWS). This study addressed the temporal (frequency, duration) and wider characteristics (e.g. type of skin picked, apparent motivations, or management strategies) of skin picking to inform intervention strategies. Nineteen parents/carers who observe skin picking shown by the person they care for completed a semi-structured interview. Results were consistent with previous research but advanced the field by finding that most participants picked skin with an imperfection and that parents/carers most commonly use distraction as a management strategy. Interventions that are behavioural, support emotion regulation and/ or are used in the typically developing population are therefore likely to be beneficial for future research. En ligne : http://dx.doi.org/10.1007/s10803-020-04504-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=437 TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader–Willi syndrome / Elisabeth M. DYKENS in Journal of Child Psychology and Psychiatry, 52-5 (May 2011)
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Titre : TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader–Willi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur ; Douglas BITTEL, Auteur ; Merlin G. BUTLER, Auteur Année de publication : 2011 Article en page(s) : p.580-587 Langues : Anglais (eng) Mots-clés : Behavior problems genetics intelligence internalizing disorder neurochemistry Prader–Willi syndrome Index. décimale : PER Périodiques Résumé : Background: Prader–Willi syndrome (PWS) is a genetic, neurodevelopmental disorder characterized by intellectual disabilities, growth hormone dysregulation, hyperphagia, increased risks of morbid obesity, compulsive behaviors, and irritability. As aberrant serotonergic functioning is strongly implicated in PWS, we examined associations between the PWS phenotype and polymorphisms in tryptophan hydroxylase 2 (TPH2), the rate-limiting enzyme in the biosynthesis of serotonin in the brain.
Methods: Ninety-two individuals with PWS aged 4 to 50 years (M = 21.97) were genotyped for the TPH2 G703-T polymorphism. IQ testing was conducted in offspring, and parents completed questionnaires that tapped their child’s compulsivity, hyperphagia, and other behavior problems.
Results: As expected, the frequency of G/T or T/T polymorphisms in participants with PWS (39%) was similar to rates found in the general population (38%). Compared to those with a homozygous (G/G) genotype, individuals with a T allele had significantly higher hyperphagic behavior, drive, and severity scores, and they also had a younger age of onset of hyperphagia. Those with a T allele also had higher IQ scores than their counterparts. Females with a T allele had significantly higher internalizing symptoms, primarily anxiety and depression, than all others.
Conclusions: TPH2 G/T polymorphisms, and presumed loss of enzyme function, were associated with specific aspects of the PWS phenotype. Aberrant serotonergic functioning is strongly implicated in hyperphagia in PWS, and females with TPH2 T alleles may be at higher risk for affective or mood disorders. Findings hold promise for examining other serotonin-altering genes in PWS, and for future serotonin-altering treatment trials.En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02365.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121
in Journal of Child Psychology and Psychiatry > 52-5 (May 2011) . - p.580-587[article] TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader–Willi syndrome [Texte imprimé et/ou numérique] / Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur ; Douglas BITTEL, Auteur ; Merlin G. BUTLER, Auteur . - 2011 . - p.580-587.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 52-5 (May 2011) . - p.580-587
Mots-clés : Behavior problems genetics intelligence internalizing disorder neurochemistry Prader–Willi syndrome Index. décimale : PER Périodiques Résumé : Background: Prader–Willi syndrome (PWS) is a genetic, neurodevelopmental disorder characterized by intellectual disabilities, growth hormone dysregulation, hyperphagia, increased risks of morbid obesity, compulsive behaviors, and irritability. As aberrant serotonergic functioning is strongly implicated in PWS, we examined associations between the PWS phenotype and polymorphisms in tryptophan hydroxylase 2 (TPH2), the rate-limiting enzyme in the biosynthesis of serotonin in the brain.
Methods: Ninety-two individuals with PWS aged 4 to 50 years (M = 21.97) were genotyped for the TPH2 G703-T polymorphism. IQ testing was conducted in offspring, and parents completed questionnaires that tapped their child’s compulsivity, hyperphagia, and other behavior problems.
Results: As expected, the frequency of G/T or T/T polymorphisms in participants with PWS (39%) was similar to rates found in the general population (38%). Compared to those with a homozygous (G/G) genotype, individuals with a T allele had significantly higher hyperphagic behavior, drive, and severity scores, and they also had a younger age of onset of hyperphagia. Those with a T allele also had higher IQ scores than their counterparts. Females with a T allele had significantly higher internalizing symptoms, primarily anxiety and depression, than all others.
Conclusions: TPH2 G/T polymorphisms, and presumed loss of enzyme function, were associated with specific aspects of the PWS phenotype. Aberrant serotonergic functioning is strongly implicated in hyperphagia in PWS, and females with TPH2 T alleles may be at higher risk for affective or mood disorders. Findings hold promise for examining other serotonin-altering genes in PWS, and for future serotonin-altering treatment trials.En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02365.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121 Use of the Zebrafish Model to Understand Behavioral Disorders Associated with Altered Oxytocin System Development: Implications for Autism and Prader–Willi Syndrome / Nicole JOHNSTON
Titre : Use of the Zebrafish Model to Understand Behavioral Disorders Associated with Altered Oxytocin System Development: Implications for Autism and Prader–Willi Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Nicole JOHNSTON, Auteur ; Eric GLASGOW, Auteur Année de publication : 2015 Importance : p.451-470 Langues : Anglais (eng) Mots-clés : Zebrafish Autism spectrum disorder Prader–Willi syndrome Oxytocin Shoaling assay Anxiety assay Zebrafish behavior Animal model Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=265 Use of the Zebrafish Model to Understand Behavioral Disorders Associated with Altered Oxytocin System Development: Implications for Autism and Prader–Willi Syndrome [Texte imprimé et/ou numérique] / Nicole JOHNSTON, Auteur ; Eric GLASGOW, Auteur . - 2015 . - p.451-470.
Langues : Anglais (eng)
Mots-clés : Zebrafish Autism spectrum disorder Prader–Willi syndrome Oxytocin Shoaling assay Anxiety assay Zebrafish behavior Animal model Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=265 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Increased Exposure to Rigid Routines can Lead to Increased Challenging Behavior Following Changes to Those Routines / Leah E. BULL in Journal of Autism and Developmental Disorders, 45-6 (June 2015)
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