Age of diagnosis for children with chromosome 15q syndromes / Anne C. WHEELER in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Age of diagnosis for children with chromosome 15q syndromes Type de document : texte imprimé Auteurs : Anne C. WHEELER, Auteur ; Marie G. GANTZ, Auteur ; Heidi COPE, Auteur ; Theresa V. STRONG, Auteur ; Jessica E. BOHONOWYCH, Auteur ; Amanda MOORE, Auteur ; Vanessa VOGEL-FARLEY, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Infant  Prader-Willi Syndrome/diagnosis/genetics  Chromosome Disorders/diagnosis/genetics  Chromosomes  Angelman Syndrome/diagnosis/genetics  Trisomy Index. décimale : PER Périodiques Résumé : OBJECTIVE: The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]). METHODS: Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences. RESULTS: The median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with isodicentric duplications in Dup15q were diagnosed earlier than those with interstitial duplications. CONCLUSION: Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09504-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Age of diagnosis for children with chromosome 15q syndromes [texte imprimé] / Anne C. WHEELER, Auteur ; Marie G. GANTZ, Auteur ; Heidi COPE, Auteur ; Theresa V. STRONG, Auteur ; Jessica E. BOHONOWYCH, Auteur ; Amanda MOORE, Auteur ; Vanessa VOGEL-FARLEY, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Child  Infant  Prader-Willi Syndrome/diagnosis/genetics  Chromosome Disorders/diagnosis/genetics  Chromosomes  Angelman Syndrome/diagnosis/genetics  Trisomy Index. décimale : PER Périodiques Résumé : OBJECTIVE: The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]). METHODS: Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences. RESULTS: The median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with isodicentric duplications in Dup15q were diagnosed earlier than those with interstitial duplications. CONCLUSION: Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09504-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

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)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Validation of the Food Safe Zone questionnaire for families of individuals with Prader-Willi syndrome Type de document : texte imprimé Auteurs : Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur ; Hailee HUNT-HAWKINS, Auteur ; Theresa V. STRONG, Auteur Langues : Anglais (eng) Mots-clés : Humans  Prader-Willi Syndrome/psychology/complications  Female  Male  Child  Psychometrics  Hyperphagia/etiology/psychology/diagnosis  Surveys and Questionnaires  Adult  Adolescent  Parents/psychology  Child, Preschool  Food Safety  Reproducibility of Results  Family/psychology  Feeding Behavior  Clinical trials  Hyperphagia  PWS food safety  Prader-Willi syndrome  this study was obtained by the Vanderbilt University Institutional Review Board,  Integrated Science Committee, under the auspices of the University’s Human  Research Protections Program. Vanderbilt participants provided written, informed  consent using the e-consent function of RedCap, a secure, web-based data  collection platform. After consenting, parents were invited to complete 3  questionnaires on RedCap. Additional study approval was obtained for participants  recruited from the Foundation for Prader-Willi Research (FPWR) Patient Registry.  Prior to collecting data from the Registry, the study was reviewed and approved  by FPWR’s research committee and IRB. All registrants in FPWR’s Patient Registry  gave approval for their de-identified data to be used for research purposes.  Consent for publication: Not Applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS), a genetic neurodevelopmental disorder, is characterized by hyperphagia and significant behavioral problems. Hyperphagic individuals with PWS are chronically hungry yet rarely feel sated, and often engage in food-seeking behaviors. To avoid life-threatening obesity in their children, families implement food security strategies (e.g., locking food sources, constant supervision around food, alerting others). Although widely used, these strategies have yet to be systematically examined. We thus developed and analyzed the psychometric properties of a new measure of these diverse strategies, the Food Safe Zone, and evaluated them in relation to hyperphagic symptoms and demographic variables. In doing so, we also shine a light on the extraordinary efforts of families in managing their children's hyperphagia. METHODS: Our team developed 20 FSZ items that were revised for clarity and completeness in an iterative feedback process with stakeholders, including parents, PWS specialists, and individuals with PWS. The FSZ was pilot tested, descriptive findings were reviewed by additional stakeholders, and then administered to 624 parents in a large-scale study. Based on an open-ended question, "Is there anything else you do to ensure food safety?" two additional items were added and evaluated in a follow-up study. RESULTS: Principal component analyses revealed that 21 FSZ items loaded onto 5 factors that were readily interpretable, accounting for 67% of test variance: Alerting Others and Food Supervision in the Community; Locking or Restricting Food Sources; Checking for Food; At Home Supervision and Meals; and Avoiding Food Settings. Internal consistency and test-rest reliability were robust. Convergent validity analyses revealed that parents implemented FSZ strategies in response to the severity of their child's hyperphagia, and not their child's age, gender or PWS genetic subtype. CONCLUSIONS: The psychometrically sound FSZ holds promise for future research, especially on the effects of food safety tactics on family members. In future clinical trials, the FSZ could also be used to help parents think critically about their food safety tactics in relation to their child's hyperphagia, or as an exploratory endpoint; if hyperphagia is lessened, so too may food safety tactics, thereby enhancing familial quality of life. En ligne : https://dx.doi.org/10.1186/s11689-024-09589-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Validation of the Food Safe Zone questionnaire for families of individuals with Prader-Willi syndrome [texte imprimé] / Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur ; Hailee HUNT-HAWKINS, Auteur ; Theresa V. STRONG, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Prader-Willi Syndrome/psychology/complications  Female  Male  Child  Psychometrics  Hyperphagia/etiology/psychology/diagnosis  Surveys and Questionnaires  Adult  Adolescent  Parents/psychology  Child, Preschool  Food Safety  Reproducibility of Results  Family/psychology  Feeding Behavior  Clinical trials  Hyperphagia  PWS food safety  Prader-Willi syndrome  this study was obtained by the Vanderbilt University Institutional Review Board,  Integrated Science Committee, under the auspices of the University’s Human  Research Protections Program. Vanderbilt participants provided written, informed  consent using the e-consent function of RedCap, a secure, web-based data  collection platform. After consenting, parents were invited to complete 3  questionnaires on RedCap. Additional study approval was obtained for participants  recruited from the Foundation for Prader-Willi Research (FPWR) Patient Registry.  Prior to collecting data from the Registry, the study was reviewed and approved  by FPWR’s research committee and IRB. All registrants in FPWR’s Patient Registry  gave approval for their de-identified data to be used for research purposes.  Consent for publication: Not Applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS), a genetic neurodevelopmental disorder, is characterized by hyperphagia and significant behavioral problems. Hyperphagic individuals with PWS are chronically hungry yet rarely feel sated, and often engage in food-seeking behaviors. To avoid life-threatening obesity in their children, families implement food security strategies (e.g., locking food sources, constant supervision around food, alerting others). Although widely used, these strategies have yet to be systematically examined. We thus developed and analyzed the psychometric properties of a new measure of these diverse strategies, the Food Safe Zone, and evaluated them in relation to hyperphagic symptoms and demographic variables. In doing so, we also shine a light on the extraordinary efforts of families in managing their children's hyperphagia. METHODS: Our team developed 20 FSZ items that were revised for clarity and completeness in an iterative feedback process with stakeholders, including parents, PWS specialists, and individuals with PWS. The FSZ was pilot tested, descriptive findings were reviewed by additional stakeholders, and then administered to 624 parents in a large-scale study. Based on an open-ended question, "Is there anything else you do to ensure food safety?" two additional items were added and evaluated in a follow-up study. RESULTS: Principal component analyses revealed that 21 FSZ items loaded onto 5 factors that were readily interpretable, accounting for 67% of test variance: Alerting Others and Food Supervision in the Community; Locking or Restricting Food Sources; Checking for Food; At Home Supervision and Meals; and Avoiding Food Settings. Internal consistency and test-rest reliability were robust. Convergent validity analyses revealed that parents implemented FSZ strategies in response to the severity of their child's hyperphagia, and not their child's age, gender or PWS genetic subtype. CONCLUSIONS: The psychometrically sound FSZ holds promise for future research, especially on the effects of food safety tactics on family members. In future clinical trials, the FSZ could also be used to help parents think critically about their food safety tactics in relation to their child's hyperphagia, or as an exploratory endpoint; if hyperphagia is lessened, so too may food safety tactics, thereby enhancing familial quality of life. En ligne : https://dx.doi.org/10.1186/s11689-024-09589-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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