18 recherche sur le mot-clé 'Prader-Willi syndrome'

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)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-9 (September 2022) . - p.3877-3889 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 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 11.2 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 [article] Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study [texte imprimé] / 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 11.2 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

Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium / Lauren SCHWARTZ in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium Type de document : texte imprimé Auteurs : Lauren SCHWARTZ, Auteur ; Assumpta CAIXÀS, Auteur ; Anastasia DIMITROPOULOS, Auteur ; Elisabeth DYKENS, Auteur ; Jessica DUIS, Auteur ; Stewart EINFELD, Auteur ; Louise GALLAGHER, Auteur ; Anthony HOLLAND, Auteur ; Lauren RICE, Auteur ; Elizabeth ROOF, Auteur ; Parisa SALEHI, Auteur ; Theresa STRONG, Auteur ; Bonnie TAYLOR, Auteur ; Kate WOODCOCK, Auteur Langues : Anglais (eng) Mots-clés : Anxiety  Consensus  Humans  Prader-Willi Syndrome/therapy  Quality of Life  Behavior  Hyperphagia  Obsessive–compulsive  Patient vignettes  Prader-Willi syndrome  Rigidity  Social cognition  Temper outbursts  Willi Research AC–no competing interests AD–no competing interests ED–no  competing interests JD–no competing interests SE–no competing interests AH–no  competing interests LR–no competing interests ER–no competing interest PS is  involved in clinical research funded by Soleno Therapeutics, Inc. & Millendo  Therapeutics, Inc. TS is an employee of Foundation for Prader Willi Research  (FPWR) and Director of Research Programs at FPWR BT–no competing interests KW–no  competing interests Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder associated with a characteristic behavioral phenotype that includes severe hyperphagia and a variety of other behavioral challenges such as temper outbursts and anxiety. These behaviors have a significant and dramatic impact on the daily functioning and quality of life for the person with PWS and their families. To date, effective therapies addressing these behavioral challenges have proven elusive, but several potential treatments are on the horizon. However, a limiting factor for treatment studies in PWS is the lack of consensus in the field regarding how to best define and measure the complex and interrelated behavioral features of this syndrome. The International PWS Clinical Trials Consortium (PWS-CTC, www.pwsctc.org ) includes expert PWS scientists, clinicians, and patient advocacy organization representatives focused on facilitating clinical trials in this rare disease. To address the above gap in the field, members of the PWS-CTC "Behavior Outcomes Working Group" sought to develop a unified understanding of the key behavioral features in PWS and build a consensus regarding their definition and description. The primary focus of this paper is to present consensus definitions and descriptions of key phenotypic PWS behaviors including hyperphagia, temper outbursts, anxiety, obsessive-compulsive behaviors, rigidity, and social cognition deficits. Patient vignettes are provided to illustrate the interrelatedness and impact of these behaviors. We also review some available assessment tools as well as new instruments in development which may be useful in measuring these behavioral features in PWS. En ligne : https://dx.doi.org/10.1186/s11689-021-09373-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium [texte imprimé] / Lauren SCHWARTZ, Auteur ; Assumpta CAIXÀS, Auteur ; Anastasia DIMITROPOULOS, Auteur ; Elisabeth DYKENS, Auteur ; Jessica DUIS, Auteur ; Stewart EINFELD, Auteur ; Louise GALLAGHER, Auteur ; Anthony HOLLAND, Auteur ; Lauren RICE, Auteur ; Elizabeth ROOF, Auteur ; Parisa SALEHI, Auteur ; Theresa STRONG, Auteur ; Bonnie TAYLOR, Auteur ; Kate WOODCOCK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Anxiety  Consensus  Humans  Prader-Willi Syndrome/therapy  Quality of Life  Behavior  Hyperphagia  Obsessive–compulsive  Patient vignettes  Prader-Willi syndrome  Rigidity  Social cognition  Temper outbursts  Willi Research AC–no competing interests AD–no competing interests ED–no  competing interests JD–no competing interests SE–no competing interests AH–no  competing interests LR–no competing interests ER–no competing interest PS is  involved in clinical research funded by Soleno Therapeutics, Inc. & Millendo  Therapeutics, Inc. TS is an employee of Foundation for Prader Willi Research  (FPWR) and Director of Research Programs at FPWR BT–no competing interests KW–no  competing interests Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder associated with a characteristic behavioral phenotype that includes severe hyperphagia and a variety of other behavioral challenges such as temper outbursts and anxiety. These behaviors have a significant and dramatic impact on the daily functioning and quality of life for the person with PWS and their families. To date, effective therapies addressing these behavioral challenges have proven elusive, but several potential treatments are on the horizon. However, a limiting factor for treatment studies in PWS is the lack of consensus in the field regarding how to best define and measure the complex and interrelated behavioral features of this syndrome. The International PWS Clinical Trials Consortium (PWS-CTC, www.pwsctc.org ) includes expert PWS scientists, clinicians, and patient advocacy organization representatives focused on facilitating clinical trials in this rare disease. To address the above gap in the field, members of the PWS-CTC "Behavior Outcomes Working Group" sought to develop a unified understanding of the key behavioral features in PWS and build a consensus regarding their definition and description. The primary focus of this paper is to present consensus definitions and descriptions of key phenotypic PWS behaviors including hyperphagia, temper outbursts, anxiety, obsessive-compulsive behaviors, rigidity, and social cognition deficits. Patient vignettes are provided to illustrate the interrelatedness and impact of these behaviors. We also review some available assessment tools as well as new instruments in development which may be useful in measuring these behavioral features in PWS. En ligne : https://dx.doi.org/10.1186/s11689-021-09373-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

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)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-12 (December 2022) . - p.5191-5206 Titre : Intervention Response by Genetic Subtype: PRETEND-Preschool Program for Children with Prader-Willi Syndrome via Remote Parent Training Type de document : texte imprimé 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 [article] Intervention Response by Genetic Subtype: PRETEND-Preschool Program for Children with Prader-Willi Syndrome via Remote Parent Training [texte imprimé] / 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)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-1 (January 2013) . - p.103-113 Titre : Social Responsiveness and Competence in Prader-Willi Syndrome: Direct Comparison to Autism Spectrum Disorder Type de document : texte imprimé 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 [article] Social Responsiveness and Competence in Prader-Willi Syndrome: Direct Comparison to Autism Spectrum Disorder [texte imprimé] / 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

Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study / Theresa V. STRONG in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study Type de document : texte imprimé Auteurs : Theresa V. STRONG, Auteur ; Jennifer L. MILLER, Auteur ; Shawn E. MCCANDLESS, Auteur ; Evelien GEVERS, Auteur ; Jack A. YANOVSKI, Auteur ; Lisa MATESEVAC, Auteur ; Jessica BOHONOWYCH, Auteur ; Shaila BALLAL, Auteur ; Kristen YEN, Auteur ; Patricia HIRANO, Auteur ; Neil M. COWEN, Auteur ; Anish BHATNAGAR, Auteur Langues : Anglais (eng) Mots-clés : Humans  Prader-Willi Syndrome/complications/drug therapy  Female  Male  Hyperphagia/drug therapy/etiology  Child  Adult  Adolescent  Diazoxide/administration & dosage/pharmacology  Young Adult  Delayed-Action Preparations  Child, Preschool  Cohort Studies  Dccr  Hyperphagia  Natural history  Prader-Willi syndrome  JLM, SEM, EG, and JAY received funding from Soleno to support the conduct of the  clinical trial. EG reports receipt of lecturing and consulting fees from Soleno.  JAY reports grant support from Soleno Therapeutics and from Rhythm  Pharmaceuticals for obesity-related projects, and material support for research  from Hikma Pharmaceuticals and Versanis-Bio and is supported by the Intramural  Research Program of the Eunice Kennedy Shriver National Institute of Child Health  and Human Development, National Institutes of Health, ZIAHD000641. TVS, JB and LM  are employed by FPWR. Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS) is a rare neurobehavioral-metabolic disease caused by the lack of paternally expressed genes in the chromosome 15q11-q13 region, characterized by hypotonia, neurocognitive problems, behavioral difficulties, endocrinopathies, and hyperphagia resulting in severe obesity if energy intake is not controlled. Diazoxide choline extended-release (DCCR) tablets have previously been evaluated for their effects on hyperphagia and other behavioral complications of people with PWS in a Phase 3 placebo-controlled study of participants with PWS, age 4 and older with hyperphagia (C601) and in an open label extension study, C602. METHODS: To better understand the longer-term impact of DCCR, a cohort from PATH for PWS, a natural history study that enrolled participants with PWS age 5 and older, who met the C601 age, weight and baseline hyperphagia inclusion criteria and had 2 hyperphagia assessments ≥ 6 months apart, were compared to the C601/C602 cohort. Hyperphagia was measured using the Hyperphagia Questionnaire for Clinical Trials (HQ-CT, range 0-36). The primary analysis used observed values with no explicit imputation of missing data. A sensitivity analysis was conducted in which all missing HQ-CT assessments in the C601/C602 cohort were assigned the highest possible value (36), representing the worst-case scenario. Other behavioral changes were assessed using the Prader-Willi Syndrome Profile questionnaire (PWSP). RESULTS: Relative to the PATH for PWS natural history study cohort, the DCCR-treated C601/C602 cohort showed significant improvements in HQ-CT score at 26 weeks (LSmean [SE] -8.3 [0.75] vs. -2.5 [0.43], p < 0.001) and 52 weeks (LSmean [SE] -9.2 [0.77] vs. -3.4 [0.47], p < 0.001). The comparison between the cohorts remained significant in the worst-case imputation sensitivity analysis. There were also significant improvements in all domains of the PWSP at 26 weeks (all p < 0.001) and 52 weeks (all p ≤ 0.003) for C601/C602 participants compared to the PATH for PWS participants. CONCLUSION: Long-term administration of DCCR to people with PWS resulted in changes in hyperphagia and other behavioral complications of PWS that are distinct from the natural history of the syndrome as exemplified by the cohort from PATH for PWS. The combined effects of administration of DCCR should reduce the burden of the syndrome on the patient, caregivers and their families, and thereby may benefit people with PWS and their families. TRIAL REGISTRATION: Clinical study C601 was originally registered on ClinicalTrials.gov on February 22, 2018 (NCT03440814). Clinical study C602 was originally registered on ClinicalTrials.gov on October 22, 2018 (NCT03714373). PATH for PWS was originally registered on ClinicalTrials.gov on October 24, 2018 (NCT03718416). En ligne : https://dx.doi.org/10.1186/s11689-024-09536-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study [texte imprimé] / Theresa V. STRONG, Auteur ; Jennifer L. MILLER, Auteur ; Shawn E. MCCANDLESS, Auteur ; Evelien GEVERS, Auteur ; Jack A. YANOVSKI, Auteur ; Lisa MATESEVAC, Auteur ; Jessica BOHONOWYCH, Auteur ; Shaila BALLAL, Auteur ; Kristen YEN, Auteur ; Patricia HIRANO, Auteur ; Neil M. COWEN, Auteur ; Anish BHATNAGAR, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Prader-Willi Syndrome/complications/drug therapy  Female  Male  Hyperphagia/drug therapy/etiology  Child  Adult  Adolescent  Diazoxide/administration & dosage/pharmacology  Young Adult  Delayed-Action Preparations  Child, Preschool  Cohort Studies  Dccr  Hyperphagia  Natural history  Prader-Willi syndrome  JLM, SEM, EG, and JAY received funding from Soleno to support the conduct of the  clinical trial. EG reports receipt of lecturing and consulting fees from Soleno.  JAY reports grant support from Soleno Therapeutics and from Rhythm  Pharmaceuticals for obesity-related projects, and material support for research  from Hikma Pharmaceuticals and Versanis-Bio and is supported by the Intramural  Research Program of the Eunice Kennedy Shriver National Institute of Child Health  and Human Development, National Institutes of Health, ZIAHD000641. TVS, JB and LM  are employed by FPWR. Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS) is a rare neurobehavioral-metabolic disease caused by the lack of paternally expressed genes in the chromosome 15q11-q13 region, characterized by hypotonia, neurocognitive problems, behavioral difficulties, endocrinopathies, and hyperphagia resulting in severe obesity if energy intake is not controlled. Diazoxide choline extended-release (DCCR) tablets have previously been evaluated for their effects on hyperphagia and other behavioral complications of people with PWS in a Phase 3 placebo-controlled study of participants with PWS, age 4 and older with hyperphagia (C601) and in an open label extension study, C602. METHODS: To better understand the longer-term impact of DCCR, a cohort from PATH for PWS, a natural history study that enrolled participants with PWS age 5 and older, who met the C601 age, weight and baseline hyperphagia inclusion criteria and had 2 hyperphagia assessments ≥ 6 months apart, were compared to the C601/C602 cohort. Hyperphagia was measured using the Hyperphagia Questionnaire for Clinical Trials (HQ-CT, range 0-36). The primary analysis used observed values with no explicit imputation of missing data. A sensitivity analysis was conducted in which all missing HQ-CT assessments in the C601/C602 cohort were assigned the highest possible value (36), representing the worst-case scenario. Other behavioral changes were assessed using the Prader-Willi Syndrome Profile questionnaire (PWSP). RESULTS: Relative to the PATH for PWS natural history study cohort, the DCCR-treated C601/C602 cohort showed significant improvements in HQ-CT score at 26 weeks (LSmean [SE] -8.3 [0.75] vs. -2.5 [0.43], p < 0.001) and 52 weeks (LSmean [SE] -9.2 [0.77] vs. -3.4 [0.47], p < 0.001). The comparison between the cohorts remained significant in the worst-case imputation sensitivity analysis. There were also significant improvements in all domains of the PWSP at 26 weeks (all p < 0.001) and 52 weeks (all p ≤ 0.003) for C601/C602 participants compared to the PATH for PWS participants. CONCLUSION: Long-term administration of DCCR to people with PWS resulted in changes in hyperphagia and other behavioral complications of PWS that are distinct from the natural history of the syndrome as exemplified by the cohort from PATH for PWS. The combined effects of administration of DCCR should reduce the burden of the syndrome on the patient, caregivers and their families, and thereby may benefit people with PWS and their families. TRIAL REGISTRATION: Clinical study C601 was originally registered on ClinicalTrials.gov on February 22, 2018 (NCT03440814). Clinical study C602 was originally registered on ClinicalTrials.gov on October 22, 2018 (NCT03714373). PATH for PWS was originally registered on ClinicalTrials.gov on October 24, 2018 (NCT03718416). En ligne : https://dx.doi.org/10.1186/s11689-024-09536-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Validation of the Food Safe Zone questionnaire for families of individuals with Prader-Willi syndrome / Elisabeth M. DYKENS in Journal of Neurodevelopmental Disorders, 17 (2025)  

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Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with Prader-Willi syndrome / Akvile LUKOSHE in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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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)  

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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)  

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Decreasing Food Stealing of Child with Prader-Willi Syndrome Through Function-Based Differential Reinforcement / Joseph M. LAMBERT in Journal of Autism and Developmental Disorders, 49-2 (February 2019)  

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