Smith Magenis Syndrome and Autism Spectrum Disorders

Last updated: June 4, 2024
Sponsor: Hospices Civils de Lyon
Overall Status: Active - Recruiting

Phase

N/A

Condition

Autism

Autism Spectrum Disorder (Asd)

Asperger's Disorder

Treatment

Assessment

Clinical Study ID

NCT05116904
69HCL20_0682
  • Ages 5-12
  • All Genders

Study Summary

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

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Genetically confirmed Smith Magenis syndrome (microdeletion of the short arm ofchromosome 17 or mutation of the RAI1 gene; obtained by FISH, CGH-array or molecularbiology) and children with neuropsychologically confirmed autism spectrum disorder,with no genetic pathology found.

  • Aged 5-12 years

  • Consent form signed by the parent(s)

  • Requiring a sleep assessment in the Hopital Femme Mère Enfant paediatric sleep unitof Pr Franco

  • Affiliation to a social security system.

Exclusion

Exclusion Criteria:

  • Associated ophthalmological disorders that do not allow the photomotor reflex to bestudied: optic neuritis, glaucoma and retinitis pigmentosa.

  • Algic child (risk of measurement bias: when a patient is in pain his pupils dilateand we observe a greater amplitude in the photomotor reflex), defined by a score onthe FPS-R Face Scale >4/10.

Only for SMS patients:

  • Dyschromatopsia detected in consultation with a rapid Ishihara test adapted to thechild's cognitive level, if necessary supplemented by a test performed byophthalmologists.

Study Design

Total Participants: 40
Treatment Group(s): 1
Primary Treatment: Assessment
Phase:
Study Start date:
March 30, 2022
Estimated Completion Date:
April 30, 2026

Connect with a study center

  • 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, 69678
    France

    Active - Recruiting

  • Service Épilepsie-Sommeil-Explorations Fonctionnelles Neurologiques Pédiatriques Hôpital Femme-Mère-Enfant HCL

    Bron, 69677
    France

    Active - Recruiting

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