Autistic Symptomatology and Sensory Profile in Children With Prader-Willi Syndrome
ConditionPrader-Willi Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age3-16
SponsorUniversity Hospital, Toulouse
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
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.
Trial population
The study population consists of children aged 3 to 16 years who have been diagnosed with Prader-Willi syndrome through genetic confirmation, recruited from several hospital centers in France.
Trial design
Design model
Case-only
Time perspective
Cross-sectional
Treatments tested in this trial
psychological and sensorial tests
Other interventionchildren receive questionnaires and sensorial test
Treatment groups
75 Participants
are divided into 1 treatment groupGroup A: Children Aged 3 to 16 Years1 intervention
Trial outcomes
Primary outcomes
1
Composite criteria : Autistic Symptomatology in Children with Prader-Willi Syndrome: Prevalence, Symptom Specificity, and Variability by Age and Genetic Subtype
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.
Time frame
day 1 to day 3Secondary outcomes
1
Composite criteria : Characterization of the sensory profile of children with PWS
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.
Time frame
day 1 to day 32
Composite criteria : Correlation Between Autistic Symptoms, Sensory Profile, and Cognitive-Behavioral Disorders, Including Eating Disorders
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.
Time frame
day 1 to day 33
Composite criteria : Assessing the Impact of Autistic Symptomatology and Sensory Profile on Family Burden and Quality of Life
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.
Time frame
day 1 to day 34
Composite criteria : comparison of Autistic Symptomatology, Sensory Profile, and Developmental Profile in 5-7 Year-Old Children: Early OT Treatment vs. Untreated
"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)
Time frame
day 1 to day 3Sponsors and contacts
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Source ClinicalTrials.gov