Actively Recruiting

Phase Not Applicable
Age: 5Years - 12Years
All Genders
NCT05116904

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

Age: 5Years - 12Years
All Genders

Eligibility Criteria

Eligible

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
Not Eligible

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

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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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

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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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Smith Magenis Syndrome and Autism Spectrum Disorders | DecenTrialz