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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:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Children with Smith Magenis Syndrome | Other |
| |
| Children with Autism Spectrum Disorders | Other |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Assessment | Other | Pupil reflex and melatonin profile, circadian profile assessment |
|
| Measure | Description | Time Frame |
|---|---|---|
| Measurement of the percentage change between pupil diameter at the end of light exposure and before exposure | This measurement will allow to evaluate the diurnal profile of the pupillary reflex and will be measured by a NeuroLight pupillometer (IDMed). This measurement will be done every 2 hours from 8am to 8pm, for one day | One day |
| Measurement of salivary melatonin levels | This measurement will allow to evaluate the diurnal melatonin profile and will be evaluated using saliva samples. This measurement will be done every 2 hours from 8am to 8pm, for one day | One day |
| Measure | Description | Time Frame |
|---|---|---|
| Determination of the chronobiological profile : Salivary cortisol levels | Salivary cortisol levels will be evaluated using saliva samples | Every 2 hours from 8am to 8pm, for one day |
| Determination of the chronobiological profile : Amylase levels |
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Inclusion Criteria:
Exclusion Criteria:
Only for SMS patients:
- Dyschromatopsia detected in consultation with a rapid Ishihara test adapted to the child's cognitive level, if necessary supplemented by a test performed by ophthalmologists.
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Patricia FRANCO, PhD | Contact | 0427856052 | +33 | patricia.franco@chu-lyon.fr |
| Name | Affiliation | Role |
|---|---|---|
| Patricia FRANCO, PhD | Service Épilepsie-Sommeil-Explorations Fonctionnelles Neurologiques Pédiatriques, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Service Épilepsie-Sommeil-Explorations Fonctionnelles Neurologiques Pédiatriques Hôpital Femme-Mère-Enfant HCL | Recruiting | Bron | 69677 | France |
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| ID | Term |
|---|---|
| D058496 | Smith-Magenis Syndrome |
| D000067877 | Autism Spectrum Disorder |
| D012893 | Sleep Wake Disorders |
| ID | Term |
|---|---|
| D021081 | Chronobiology Disorders |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
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| ID | Term |
|---|---|
| D012149 | Restraint, Physical |
| ID | Term |
|---|---|
| D032763 | Behavior Control |
| D013812 | Therapeutics |
| D007103 | Immobilization |
| D008919 | Investigative Techniques |
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Amylase levels will be evaluated using saliva samples
| Every 2 hours from 8am to 8pm, for one day |
| Determination of the chronobiological profile : Urinary 6-sulfatoxymelatonin level | Urinary 6-sulfatoxymelatonin level will be evaluated using urinary samples | over 24hours |
| Determination of the chronobiological profile : Urinary cortisol level | Urinary cortisol level will be evaluated using urinary samples | over 24hours |
| Determination of the chronobiological profile : Variations in body temperature in degrees | Body temperature will be measured by ibuttonR placed on the surface of the skin | over 24hours |
| Determination of the chronobiological profile : Assessment of sleepiness by questionnaire (numerical score) | The Karolinska questionnaire will be carried out at the time of salivary sampling and pupil diameter measurement and the score obtained will be compared with the salivary melatonin level. | Every 2 hours from 8am to 8pm, for one day |
| Determination of the chronobiological profile : Assessment of sleepiness by spectral analysis (EEG) | Somnolence will be evaluated by calculating power spectrum in several frequency bands. | Every 2 hours from 8am to 8pm, for one day |
| Determination of the chronobiological profile : Sleep assessment by actimetry | Home activity monitor during an outpatient recording with a watch in order to assess the sleep wake rhythm at home | 2 weeks |
| Determination of the chronobiological profile :Sleep assessment by Polysomnography | Polysomnography during hospitalization in order to assess the structure of sleep | 24 hours |
| Neuropsychological assessment | WISC +/- Vineland | One day |
| 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) | Recruiting | Bron | 69678 | France |
|
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D002659 | Child Development Disorders, Pervasive |
| D065886 | Neurodevelopmental Disorders |
| D001523 | Mental Disorders |
| D009461 | Neurologic Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |