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NCT Number: NCT06877715

Autistic Symptomatology and Sensory Profile in Children With Prader-Willi Syndrome

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.

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Key information

Conditions

Prader-Willi Syndrome Abnormalities, Multiple Autism Spectrum Disorder Child Development Disorders, Pervasive Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Imprinting Disorders Intellectual Disability Mental Disorders Nervous System Diseases Neurobehavioral Manifestations Neurodevelopmental Disorders Neurologic Manifestations Nutrition Disorders Nutritional and Metabolic Diseases Obesity Overnutrition Overweight

Age range

3 year–16 year

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.

Exclusion criteria

  • 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.

Treatment and study plan

psychological and sensorial tests

Other

children receive questionnaires and sensorial test

Primary outcomes

  1. Composite criteria : Autistic Symptomatology in Children with Prader-Willi Syndrome: Prevalence, Symptom Specificity, and Variability by Age and Genetic Subtype

    Time frame: day 1 to day 3

    The tests used are the ADOS-2 and ADI-R tests. The ADOS-2 test is used for evaluating the ASD symptoms. It consists of structured and semi-structured activities designed to assess communication, social interaction, play, and restricted or repetitive behaviors. The best possible score is 0, while the worst possible score is 10.

    The other test is ADI-R. The ADI-R is a structured interview used to assess behaviors and developmental history related to ASD. The responses are scored to evaluate the presence and severity of ASD symptoms, helping to support the diagnosis.

Secondary outcomes

  1. Composite criteria : Characterization of the sensory profile of children with PWS

    Time frame: day 1 to day 3

    The PIPS is a program designed to assess and support sensory processing differences in individuals, particularly those with autism. It helps identify sensory sensitivities and adapt interventions accordingly. The highest score is 140, and each modality has a maximum score of 20.

    The ESA-EA is a sensory assessment tool specifically for individuals with autism.

    The U-Sniff measures olfactory function by testing an individual's ability to identify specific odors.

  2. Composite criteria : Correlation Between Autistic Symptoms, Sensory Profile, and Cognitive-Behavioral Disorders, Including Eating Disorders

    Time frame: day 1 to day 3

    This study examines the correlation between autism disorder/sensory profile assessments (ADOS-2, ADI-R, PIPS, ESA-EA, U-Sniff test) and behavioral/cognitive assessments (Vineland-II, CBCL, Dykens questionnaire, IQ). The Vineland-II is a semi-structured interview assessing autonomy and adaptive skills.

    The CBCL evaluates behavioral problems and social skills using a Likert scale, with T-scores indicating severity across clinical subscales.

    The hyperphagia tool for Prader-Willi Syndrome uses a 5-point Likert scale to rate behaviors, calculating total scores and subscores for Hyperphagic Behavior, Drive, and Severity, along with a specific HQ-CT score for clinical trials. Higher scores indicate more severe symptoms in each tool.

  3. Composite criteria : Assessing the Impact of Autistic Symptomatology and Sensory Profile on Family Burden and Quality of Life

    Time frame: day 1 to day 3

    ZBI measures parents' perception of the burden associated with their child's disability, using a 5-point Likert scale ("0" = never, "4" = almost always). A total score is calculated by summing the 22 items, with higher scores indicating a greater burden.

    IOFS explores the impact of a child's disability on the family's quality of life. Parents rate statements on a 4-point Likert scale ("strongly agree" = 1, "strongly disagree" = 4), and a total score is calculated after reversing scores. Higher scores reflect a greater impact on family quality of life.

  4. Composite criteria : comparison of Autistic Symptomatology, Sensory Profile, and Developmental Profile in 5-7 Year-Old Children: Early OT Treatment vs. Untreated

    Time frame: day 1 to day 3

    "In the 5-7 year age group, comparison of scores and subscores between the early OT-treated children group and the untreated children group regarding:

    The specificity of autistic symptomatology (ADOS-2, ADI-R) Sensory profile (PIPS, ESA-EA, U-sniff test) Behavioral and cognitive profile (Vineland-II, CBCL, Dykens questionnaire, IQ) The impact of the condition (ZBI, IOFS)

Study contacts

Contact information is provided by the study sponsor or research team.

Nadege ALGANS

CONTACT

[email protected]

0561777204 ext. +33

Sponsors and collaborators

Lead sponsor

University Hospital, Toulouse

Other

Registry information

Acronym: CASSPER

Important dates

Study start
2025
Primary completion
2026
Study completion
2026
First posted
Mar 14, 2025
Registry last updated
May 8, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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