Actively Recruiting
Smith Magenis Syndrome and Autism Spectrum Disorders
Led by Hospices Civils de Lyon · Updated on 2024-06-06
40
Participants Needed
2
Research Sites
209 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Autism Spectrum Disorders (ASD) are a neurodevelopmental disorder. Their prevalence is estimated at around 0.4% of the general population worldwide. Their early onset and chronic nature make them a disabling disorder, all the more so as there is a high prevalence of sleep disorders in these populations, estimated at between 50 and 80%, with many complaints of insomnia in particular. These sleep disorders may result from biological, psychological, social, environmental and family factors. Smith Magenis Syndrome (SMS) is a complex disorder characterized by severe neurological, psychological and behavioral disorders including sleep-wake rhythm disorders. It is a rare disease with a prevalence of 1/25 000. These sleep disorders observed could be the consequence of a general dysregulation of the circadian system, since SMS patients show an inversion of the melatonin secretion profile (with a totally abnormal diurnal peak) and in patients with autism spectrum disorders, an overall reduction in melatonin secretion. These sleep-wake disturbances cycle could play a significant role in learning deficits and in the frequency and severity of behavioral abnormalities observed in SMS and ASD. In this project, investigators propose to study the mechanisms involved in the sleep-wake cycle disorders observed in Smith Magenis and Autism Spectrum children, in particular by evaluating the quality of the pupillary reflex using a pupillometer. The pupillary reflex is a simple and non-invasive method to test light sensitivity and the photobiological mechanisms involved. In this way, investigators want to evaluate the diurnal profile of the pupillary reflex in children with Smith Magenis syndrome and with Autism Spectrum Disorders in relation to the diurnal melatonin profile. Investigators will complete this study by determining the chronobiological profile of these patients by measuring different variables: * Diurnal cortisol and amylase profile * 24h body temperature and heart rate profile * Urinary cortisol and 6-sulfatoxymelatonin (major metabolite of melatonin) profiles * Daytime sleepiness profile measured subjectively by questionnaire and objectively via a waking EEG recording. * Actimetry at home * Polysomnography * A neurocognitive and behavioural assessment
CONDITIONS
Official Title
Smith Magenis Syndrome and Autism Spectrum Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Genetically confirmed Smith Magenis syndrome or neuropsychologically confirmed autism spectrum disorder with no genetic pathology
- Aged 5 to 12 years
- Signed consent form by parent(s)
- Requires a sleep assessment in the pediatric sleep unit of Hopital Femme Mère Enfant
- Affiliated with a social security system
You will not qualify if you...
- Eye disorders preventing study of the pupillary reflex such as optic neuritis, glaucoma, or retinitis pigmentosa
- Child experiencing significant pain (face pain scale score >4/10)
- For SMS patients, presence of dyschromatopsia confirmed by a rapid Ishihara test or ophthalmologist evaluation
AI-Screening
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Trial Site Locations
Total: 2 locations
1
Service Épilepsie-Sommeil-Explorations Fonctionnelles Neurologiques Pédiatriques Hôpital Femme-Mère-Enfant HCL
Bron, France, 69677
Actively Recruiting
2
GénoPsy, Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, Centre Hospitalier le Vinatier and EDR-Psy Q19 Team (Centre National de la Recherche Scientifique & Lyon 1 Claude Bernard University)
Bron, France, 69678
Actively Recruiting
Research Team
P
Patricia FRANCO, PhD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
SINGLE_GROUP
Primary Purpose
BASIC_SCIENCE
Number of Arms
2
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