Autistic Symptomatology and Sensory Profile in Children With Prader-Willi Syndrome
Ориентир для пациента и семьи
Простыми словами
Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.
- Что изучают
- В протоколе указаны: psychological and sensorial tests.
- Кому может быть актуально
- Состояния в реестре: Prader-Willi Syndrome. Базовые параметры: 3 лет — 16 лет · Все.
- Что важно проверить
- Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
- Где проводится
- Франция
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
Не всё понятно в терминах? Прочитайте наш гид для пациентов →
Обзор
Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder stemming from genetic damage in the 15q11-q13 region, leading to hypothalamic dysfunction. Individuals with PWS often exhibit social interaction challenges, intellectual deficits, significant eating disorders, mood disturbances, and sensory-related autistic features. Although PWS is recognized by DSM-5 as a genetic cause of Autism Spectrum Disorder (ASD), ASD diagnosis in PWS remains rare in France. The CASSPER study aims to investigate the distinct autistic and sensory profiles in children with PWS, also analyzing the potential impact of early oxytocin treatment on these manifestations, in line with recommendations for early and tailored intervention.
Подробное описание
Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder (NDD) with genetic origin linked to chromosomal damage in the 15q11-q13 region and characterised by hypothalamic dysfunction. At the psychiatric level, patients with PWS display difficulties in social interaction, mild to moderate intellectual deficit, major eating disorders, mood disorders and autistic manifestations, including hypo-/hyper-reactivity to sensory stimuli.
While the International Classification (DSM-5) lists PWS as one of the genetic causes of Autism Spectrum Disorder (ASD), little is known about the interaction between autistic traits, sensory features and PWS.
To date, assessment and diagnosis of ASD in PWS remains exceptional in standard care in France, despite the obvious importance of correct assessment for early identification and intervention.
In this context, the CASSPER study aims to identify the specificity of PWS in terms of autistic symptomatology and sensory characteristics. The CASSPER study is in line with the recommendations of the French National Health Authority (HAS) for early and appropriate guidance of children with PWS.
In addition, almost all children with PWS under the age of 5 have received early treatment with oxytocin (OT). As the neuromodulatory effect of OT treatment and the involvement of this neurohormone in the development of attachment, social interaction and sensory processing may explain a difference in autistic symptomatology, this parameter will be included in the analyses.
The CASSPER study aims to fill gaps in our knowledge of PWS and its care and could be useful more generally to improve our understanding of autistic manifestations in NDD of genetic origin.
Вмешательства
- Другое psychological and sensorial tests
children receive questionnaires and sensorial test
Первичные конечные точки
- Composite criteria : Autistic Symptomatology in Children with Prader-Willi Syndrome: Prevalence, Symptom Specificity, and Variability by Age and Genetic Subtype [Срок оценки: day 1 to day 3]
Вторичные конечные точки (4)
- Composite criteria : Characterization of the sensory profile of children with PWS [Срок оценки: day 1 to day 3]
- Composite criteria : Correlation Between Autistic Symptoms, Sensory Profile, and Cognitive-Behavioral Disorders, Including Eating Disorders [Срок оценки: day 1 to day 3]
- Composite criteria : Assessing the Impact of Autistic Symptomatology and Sensory Profile on Family Burden and Quality of Life [Срок оценки: day 1 to day 3]
- Composite criteria : comparison of Autistic Symptomatology, Sensory Profile, and Developmental Profile in 5-7 Year-Old Children: Early OT Treatment vs. Untreated [Срок оценки: day 1 to day 3]
Критерии участия
Критерии включения
- Child with genetically confirmed PWS and identification of genetic subtype;
- Child aged between 3 and 16 years;
- Hospitalisation or multidisciplinary consultation planned for the child's routine follow-up at one of the investigating centres;
- No parental/legal guardian objection.
Критерии исключения
- Change in psychotropic treatment (start, change in dose or discontinuation) in the past 3 months;
- Inability to provide clear information to parents/legal guardian;
- Not covered by social security.
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Только случаи
Центры проведения
Франция · 1 центр
- Children Hospital — Toulouse
Идентификаторы
NCT: NCT06877715 · RC31/24/0447 · ID-RCB : 2025-A00085-44