Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
15 recherche sur le mot-clé 'Prader-Willi Syndrome'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study / Jessica MACKAY in Journal of Autism and Developmental Disorders, 52-9 (September 2022)
[article]
Titre : Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study Type de document : Texte imprimé et/ou numérique Auteurs : Jessica MACKAY, Auteur ; Gillian M. NIXON, Auteur ; Antony R. LAFFERTY, Auteur ; Geoff AMBLER, Auteur ; Nitin KAPUR, Auteur ; Philip B. BERGMAN, Auteur ; Cara SCHOFIELD, Auteur ; Chris SETON, Auteur ; Andrew TAI, Auteur ; Elaine THAM, Auteur ; Komal VORA, Auteur ; Patricia CROCK, Auteur ; Charles VERGE, Auteur ; Yassmin MUSTHAFFA, Auteur ; Greg BLECHER, Auteur ; Daan CAUDRI, Auteur ; Helen LEONARD, Auteur ; Peter JACOBY, Auteur ; Andrew WILSON, Auteur ; Catherine S. CHOONG, Auteur ; Jenny DOWNS, Auteur Article en page(s) : p.3877-3889 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder Caregivers Child Humans Hyperphagia Prader-Willi Syndrome/genetics Quality of Life Sleep Sleep Wake Disorders Growth hormone behaviour Parental well-being Prader-Willi syndrome Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry (n=50, mean age 11.2Â years) to evaluate associations between child behaviours and caregiver mental well-being. Symptoms of sleep-related breathing disorder, child depression and social difficulties were associated with poorer caregiver mental and physical well-being. Growth hormone therapy use was associated with better caregiver mental and physical well-being. Optimising management of problematic behaviours and sleep disturbances have the potential to support caregivers who are the most vital network of support for individuals affected by PWS. En ligne : http://dx.doi.org/10.1007/s10803-021-05265-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485
in Journal of Autism and Developmental Disorders > 52-9 (September 2022) . - p.3877-3889[article] Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study [Texte imprimé et/ou numérique] / Jessica MACKAY, Auteur ; Gillian M. NIXON, Auteur ; Antony R. LAFFERTY, Auteur ; Geoff AMBLER, Auteur ; Nitin KAPUR, Auteur ; Philip B. BERGMAN, Auteur ; Cara SCHOFIELD, Auteur ; Chris SETON, Auteur ; Andrew TAI, Auteur ; Elaine THAM, Auteur ; Komal VORA, Auteur ; Patricia CROCK, Auteur ; Charles VERGE, Auteur ; Yassmin MUSTHAFFA, Auteur ; Greg BLECHER, Auteur ; Daan CAUDRI, Auteur ; Helen LEONARD, Auteur ; Peter JACOBY, Auteur ; Andrew WILSON, Auteur ; Catherine S. CHOONG, Auteur ; Jenny DOWNS, Auteur . - p.3877-3889.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-9 (September 2022) . - p.3877-3889
Mots-clés : Autism Spectrum Disorder Caregivers Child Humans Hyperphagia Prader-Willi Syndrome/genetics Quality of Life Sleep Sleep Wake Disorders Growth hormone behaviour Parental well-being Prader-Willi syndrome Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry (n=50, mean age 11.2Â years) to evaluate associations between child behaviours and caregiver mental well-being. Symptoms of sleep-related breathing disorder, child depression and social difficulties were associated with poorer caregiver mental and physical well-being. Growth hormone therapy use was associated with better caregiver mental and physical well-being. Optimising management of problematic behaviours and sleep disturbances have the potential to support caregivers who are the most vital network of support for individuals affected by PWS. En ligne : http://dx.doi.org/10.1007/s10803-021-05265-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485 Intervention Response by Genetic Subtype: PRETEND-Preschool Program for Children with Prader-Willi Syndrome via Remote Parent Training / Anastasia DIMITROPOULOS in Journal of Autism and Developmental Disorders, 52-12 (December 2022)
[article]
Titre : Intervention Response by Genetic Subtype: PRETEND-Preschool Program for Children with Prader-Willi Syndrome via Remote Parent Training Type de document : Texte imprimé et/ou numérique Auteurs : Anastasia DIMITROPOULOS, Auteur ; Ellen A. DOERNBERG, Auteur ; Sandra W. RUSS, Auteur ; Olena ZYGA, Auteur Année de publication : 2022 Article en page(s) : p.5191-5206 Langues : Anglais (eng) Mots-clés : Child Child, Preschool Humans Prader-Willi Syndrome/psychology Autism Spectrum Disorder Social Skills Schools Parents Parent-training Prader-Willi Syndrome Pretend play Social Cognition Telehealth Index. décimale : PER Périodiques Résumé : Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder associated with social cognitive challenges, and pretend play has been demonstrated as a tool to achieve developmental goals. Following previous report on feasibility and acceptability of a remote, play-based parent-training program (Zyga, Russ, & Dimitropoulos, 2018), we now report on preliminary efficacy of this program to enhance pretend play skills and social cognitive skills in preschoolers with PWS. Results across two studies demonstrated efficacy when live-coaching play sessions incorporated children into the intervention. Increases in play skills were observed for children with the mUPD subtype of PWS who underwent intervention, compared with children with mUPD who were waitlisted. Children with DEL subtype were less likely to respond to intervention. Implications for results are discussed. En ligne : http://dx.doi.org/10.1007/s10803-022-05695-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489
in Journal of Autism and Developmental Disorders > 52-12 (December 2022) . - p.5191-5206[article] Intervention Response by Genetic Subtype: PRETEND-Preschool Program for Children with Prader-Willi Syndrome via Remote Parent Training [Texte imprimé et/ou numérique] / Anastasia DIMITROPOULOS, Auteur ; Ellen A. DOERNBERG, Auteur ; Sandra W. RUSS, Auteur ; Olena ZYGA, Auteur . - 2022 . - p.5191-5206.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-12 (December 2022) . - p.5191-5206
Mots-clés : Child Child, Preschool Humans Prader-Willi Syndrome/psychology Autism Spectrum Disorder Social Skills Schools Parents Parent-training Prader-Willi Syndrome Pretend play Social Cognition Telehealth Index. décimale : PER Périodiques Résumé : Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder associated with social cognitive challenges, and pretend play has been demonstrated as a tool to achieve developmental goals. Following previous report on feasibility and acceptability of a remote, play-based parent-training program (Zyga, Russ, & Dimitropoulos, 2018), we now report on preliminary efficacy of this program to enhance pretend play skills and social cognitive skills in preschoolers with PWS. Results across two studies demonstrated efficacy when live-coaching play sessions incorporated children into the intervention. Increases in play skills were observed for children with the mUPD subtype of PWS who underwent intervention, compared with children with mUPD who were waitlisted. Children with DEL subtype were less likely to respond to intervention. Implications for results are discussed. En ligne : http://dx.doi.org/10.1007/s10803-022-05695-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489 Social Responsiveness and Competence in Prader-Willi Syndrome: Direct Comparison to Autism Spectrum Disorder / Anastasia DIMITROPOULOS in Journal of Autism and Developmental Disorders, 43-1 (January 2013)
[article]
Titre : Social Responsiveness and Competence in Prader-Willi Syndrome: Direct Comparison to Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Anastasia DIMITROPOULOS, Auteur ; Alan HO, Auteur ; Benjamin FELDMAN, Auteur Année de publication : 2013 Article en page(s) : p.103-113 Langues : Anglais (eng) Mots-clés : Prader-Willi syndrome Social deficit Social responsiveness Social competence Autism spectrum disorder Maternal uniparental disomy Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS), a neurodevelopmental disorder primarily characterized by hyperphagia and food preoccupations, is caused by the absence of expression of the paternally active genes in the proximal arm of chromosome 15. Although maladaptive behavior and the cognitive profile in PWS have been well characterized, social functioning has only more recently been systematically examined. Findings to date indicate the social impairment exhibited may reflect specific difficulty interpreting and using social information effectively. In addition, evidence suggests that there is an increased risk of social deficits in people with the maternally-derived uniparental disomy (mUPD) subtype of PWS in comparison to those with 15q11'13 paternal deletion (DEL). Using the Social Responsiveness Scale (SRS) and the Social Competence Inventory, our goal was to compare social functioning in PWS to individuals with autism spectrum disorder (ASD). Participants with mUPD scored similarly to the ASD group across most SRS domains. All groups had difficulty with social competence, although the DEL group scored highest on prosocial behavior. Findings suggest further characterization of social behavior in PWS is necessary to aid in advancing the understanding of the contributions of genes in the 15q11'13 critical region to ASD susceptibility, particularly with respect to the overexpression of maternally expressed genes in this region, as well as aiding in awareness and development/implementation of interventions. En ligne : http://dx.doi.org/10.1007/s10803-012-1547-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187
in Journal of Autism and Developmental Disorders > 43-1 (January 2013) . - p.103-113[article] Social Responsiveness and Competence in Prader-Willi Syndrome: Direct Comparison to Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Anastasia DIMITROPOULOS, Auteur ; Alan HO, Auteur ; Benjamin FELDMAN, Auteur . - 2013 . - p.103-113.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 43-1 (January 2013) . - p.103-113
Mots-clés : Prader-Willi syndrome Social deficit Social responsiveness Social competence Autism spectrum disorder Maternal uniparental disomy Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS), a neurodevelopmental disorder primarily characterized by hyperphagia and food preoccupations, is caused by the absence of expression of the paternally active genes in the proximal arm of chromosome 15. Although maladaptive behavior and the cognitive profile in PWS have been well characterized, social functioning has only more recently been systematically examined. Findings to date indicate the social impairment exhibited may reflect specific difficulty interpreting and using social information effectively. In addition, evidence suggests that there is an increased risk of social deficits in people with the maternally-derived uniparental disomy (mUPD) subtype of PWS in comparison to those with 15q11'13 paternal deletion (DEL). Using the Social Responsiveness Scale (SRS) and the Social Competence Inventory, our goal was to compare social functioning in PWS to individuals with autism spectrum disorder (ASD). Participants with mUPD scored similarly to the ASD group across most SRS domains. All groups had difficulty with social competence, although the DEL group scored highest on prosocial behavior. Findings suggest further characterization of social behavior in PWS is necessary to aid in advancing the understanding of the contributions of genes in the 15q11'13 critical region to ASD susceptibility, particularly with respect to the overexpression of maternally expressed genes in this region, as well as aiding in awareness and development/implementation of interventions. En ligne : http://dx.doi.org/10.1007/s10803-012-1547-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187 Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with Prader-Willi syndrome / A. LUKOSHE in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with Prader-Willi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : A. LUKOSHE, Auteur ; S. E. VAN DIJK, Auteur ; G. E. VAN DEN BOSCH, Auteur ; A. VAN DER LUGT, Auteur ; T. WHITE, Auteur ; A. C. HOKKEN-KOELEGA, Auteur Article en page(s) : p.12 Langues : Anglais (eng) Mots-clés : 15q11-q13 Functional resting-state connectivity Hypothalamus Neurodevelopmental disorders Pituitary gland Prader-Willi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder, characterized by endocrine problems and hyperphagia, indicating hypothalamic-pituitary dysfunction. However, few studies have explored the underlying neurobiology of the hypothalamus and its functional connectivity with other brain regions. Thus, the aim of this study was to examine the anatomical differences of the hypothalamus, mammillary bodies, and pituitary gland as well as resting state functional connectivity of the hypothalamus in children with PWS. METHODS: Twenty-seven children with PWS (13 DEL, 14 mUPD) and 28 typically developing children were included. Manual segmentations by a blinded investigator were performed to determine the volumes of the hypothalamus, mammillary bodies, and pituitary gland. In addition, brain-wide functional connectivity analysis was performed using the obtained masks of the hypothalamus. RESULTS: Children with PWS showed altered resting state functional connectivity between hypothalamus and right and left lateral occipital complex, compared to healthy controls. In addition, children with PWS had on average a 50% smaller pituitary volume, an irregular shape of the pituitary, and a longer pituitary stalk. Pituitary volume did not increase in volume during puberty in PWS. No volumetric differences in the hypothalamus and mammillary bodies were found. In all subjects, the posterior pituitary bright spot was observed. CONCLUSIONS: We report altered functional hypothalamic connectivity with lateral occipital complexes in both hemispheres, which are implicated in response to food and reward system, and absence of connectivity might therefore at least partially contribute to the preoccupation with food in PWS. En ligne : http://dx.doi.org/10.1186/s11689-017-9188-7 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.12[article] Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with Prader-Willi syndrome [Texte imprimé et/ou numérique] / A. LUKOSHE, Auteur ; S. E. VAN DIJK, Auteur ; G. E. VAN DEN BOSCH, Auteur ; A. VAN DER LUGT, Auteur ; T. WHITE, Auteur ; A. C. HOKKEN-KOELEGA, Auteur . - p.12.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.12
Mots-clés : 15q11-q13 Functional resting-state connectivity Hypothalamus Neurodevelopmental disorders Pituitary gland Prader-Willi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder, characterized by endocrine problems and hyperphagia, indicating hypothalamic-pituitary dysfunction. However, few studies have explored the underlying neurobiology of the hypothalamus and its functional connectivity with other brain regions. Thus, the aim of this study was to examine the anatomical differences of the hypothalamus, mammillary bodies, and pituitary gland as well as resting state functional connectivity of the hypothalamus in children with PWS. METHODS: Twenty-seven children with PWS (13 DEL, 14 mUPD) and 28 typically developing children were included. Manual segmentations by a blinded investigator were performed to determine the volumes of the hypothalamus, mammillary bodies, and pituitary gland. In addition, brain-wide functional connectivity analysis was performed using the obtained masks of the hypothalamus. RESULTS: Children with PWS showed altered resting state functional connectivity between hypothalamus and right and left lateral occipital complex, compared to healthy controls. In addition, children with PWS had on average a 50% smaller pituitary volume, an irregular shape of the pituitary, and a longer pituitary stalk. Pituitary volume did not increase in volume during puberty in PWS. No volumetric differences in the hypothalamus and mammillary bodies were found. In all subjects, the posterior pituitary bright spot was observed. CONCLUSIONS: We report altered functional hypothalamic connectivity with lateral occipital complexes in both hemispheres, which are implicated in response to food and reward system, and absence of connectivity might therefore at least partially contribute to the preoccupation with food in PWS. En ligne : http://dx.doi.org/10.1186/s11689-017-9188-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes / R. ROYSTON in Journal of Autism and Developmental Disorders, 48-1 (January 2018)
[article]
Titre : Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes Type de document : Texte imprimé et/ou numérique Auteurs : R. ROYSTON, Auteur ; C. OLIVER, Auteur ; J. MOSS, Auteur ; D. ADAMS, Auteur ; K. BERG, Auteur ; Cheryl BURBIDGE, Auteur ; P. HOWLIN, Auteur ; L. NELSON, Auteur ; C. STINTON, Auteur ; J. WAITE, Auteur Article en page(s) : p.326-331 Langues : Anglais (eng) Mots-clés : Down syndrome Prader-Willi syndrome Repetitive behaviour Williams syndrome Index. décimale : PER Périodiques Résumé : This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation. En ligne : https://doi.org/10.1007/s10803-017-3319-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=337
in Journal of Autism and Developmental Disorders > 48-1 (January 2018) . - p.326-331[article] Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes [Texte imprimé et/ou numérique] / R. ROYSTON, Auteur ; C. OLIVER, Auteur ; J. MOSS, Auteur ; D. ADAMS, Auteur ; K. BERG, Auteur ; Cheryl BURBIDGE, Auteur ; P. HOWLIN, Auteur ; L. NELSON, Auteur ; C. STINTON, Auteur ; J. WAITE, Auteur . - p.326-331.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 48-1 (January 2018) . - p.326-331
Mots-clés : Down syndrome Prader-Willi syndrome Repetitive behaviour Williams syndrome Index. décimale : PER Périodiques Résumé : This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation. En ligne : https://doi.org/10.1007/s10803-017-3319-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=337 Cognitive and adaptive advantages of growth hormone treatment in children with Prader-Willi syndrome / Elisabeth M. DYKENS in Journal of Child Psychology and Psychiatry, 58-1 (January 2017)
PermalinkDecreasing Food Stealing of Child with Prader-Willi Syndrome Through Function-Based Differential Reinforcement / J. M. LAMBERT in Journal of Autism and Developmental Disorders, 49-2 (February 2019)
PermalinkEarly Social Cognitive Ability in Preschoolers with Prader-Willi Syndrome and Autism Spectrum Disorder / A. DIMITROPOULOS in Journal of Autism and Developmental Disorders, 49-11 (November 2019)
PermalinkFamily Contexts, Parental Behaviour, and Personality Profiles of Children and Adolescents with Prader-Willi, Fragile-X, or Williams Syndrome / Cornelis F. M. VAN LIESHOUT in Journal of Child Psychology and Psychiatry, 39-5 (July 1998)
PermalinkLife Satisfaction Among Mothers of Individuals with Prader-Willi Syndrome / Carolyn M. SHIVERS in Journal of Autism and Developmental Disorders, 46-6 (June 2016)
Permalink