Hypohidrotic Ectodermal Dysplasia
Conditions
Keywords
Hypohidrotic ectodermal dysplasia, Sleep efficiency, Circadian biological clock, Melatonin, Actigraphy, Polysomnography (PSG)
Brief summary
The aim of the study is to compare sleep efficiency by means of actigraphy in patients with hypohidrotic ectodermal dysplasia with healthy controls. Sleep efficiency, assessed on actigraphy, sleep architecture assessed on on polysomnography, body temperature and urine melatonin levels will be compared between the patients with hypohidrotic ectodermal dysplasia with healthy controls.
Detailed description
Ectodermal dysplasias (ED) are rare genetic diseases characterized by a developmental abnormality of at least two of the following ectodermal derivatives: teeth, nails, pilosity and glands. In the hypohidrotic form (HED), dental abnormalities (oligodontia, hypodontia) and the decrease or even the absence of sweating are predominant. The lack of sweating, and therefore of the regulation of core body temperature, can impact the daily lives of patients as soon as the ambient temperature exceeds 23-24 ° C. Core body temperature is one of the players of the internal biological clock that regulates sleep. Indeed, sleep is induced by a decrease in core body temperature concomitant with a peak of melatonin secretion. Consequently, the absence of sweating in HED and therefore the inability to lower core body temperature may explain the poor sleep quality reported by patients. However, sleep disturbances have not been analyzed in the literature nor the relationship between sleep quality and core body temperature in patients with HED. The sleep of patients with HED who are followed at the national reference center for rare diseases of the skin and mucous membranes of genetic origin (MAGEC center) of the Necker-Enfants Malades hospital will be evaluated and compared to sleep of healthy controls screened within in the patient's family. The main objective of the study is to compare the sleep efficiency evaluated on actigraphy between HED patients and healthy controls. Sleep efficiency will be measured by means of actigraphy during 10 days and one overnight polysomnography, together with continuous recording of proximal and distal skin temperature during 10 days, one-off measurement of sweating by a sweat test and urine melatonin assay over 24 hours. Subjective sleep quality will also be assessed by means of questionnaires in patients and healthy controls. Finally, patients with HED will also have a standardized psychological and neuropsychological assessment.
Interventions
OTHERActigraphy
Sleep efficiency recording at home by means of actigraphy during 10 consecutive days.
OTHERRecording of proximal and distal skin temperature and temperature of the bedroom
Recording of proximal and distal skin temperature at home by data loggers placed on the skin during 10 consecutive days. Recording of temperature of the bedroom by a data logger during 10 consecutive days.
OTHERQuestionnaires assessing subjective sleep quality
One-off questionnaires assessing subjective sleep quality. The Pittsburgh Sleep Quality Index (PSQI) evaluates sleep quality with questions about sleep latency, sleep duration, habitual sleep efficiency, sleep disturbances, use of sleep medications, and daytime dysfunction during the last month. The Epworth Sleepiness Scale evaluates daytime sleepiness and comprises 8 items (situations) during which individuals assess how likely they would fall asleep.
OTHERSweat test
One-off measurement of sweating by a sweat test at the hospital.
OTHERUrine melatonin assay
Two urine melatonin at home during 24 hours, one during a week day and one during the weekend
OTHERPolysomnography
Sleep architecture assessed by a polysomnography during one night at home.
OTHERStandardized psychological and neuropsychological assessment
One-off psychological and neuropsychological assessment of patients with HED during a hospital visit
Sponsors
URC-CIC Paris Descartes Necker Cochin
Assistance Publique - Hôpitaux de Paris
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
MALE
Age
3 Years to 40 Years
Healthy volunteers
No
Inclusion criteria
* Male patients with molecularly confirmed hypohidrotic ectodermal dysplasia (HED), children over 3 years of age and adults under 40 years of age. Patients will be separated into 3 age groups (3 to 6 years old, 7 to 12 years old, 13 years old and over) * Healthy controls (control subjects), of same age group, recruited if possible within the patient's direct entourage * Written informed consent
Exclusion criteria
* No social insurance * Presence of an associated pathology known to alter the quality of sleep (neurological, cardiac, psychiatric, severe sleep apnea syndrome) * Presence of an associated pathology causing significant psychomotor retardation, behavioral disorders with impossible cooperation or significant agitation * Treatment with psychotropic drugs or drugs stimulating vigilance * Patient under guardianship/curatorship
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Sleep fragmentation index | 10 days | Comparison of sleep fragmentation index evaluated on actigraphy between HED patients and healthy controls. |
| Sleep efficiency on actigraphy | 10 days | Comparison of sleep efficiency evaluated on actigraphy between HED patients and healthy controls. |
| Total sleep time on actigraphy | 10 days | Comparison of total sleep time evaluated on actigraphy between HED patients and healthy controls. |
| Awake after sleep onset on actigraphy | 10 days | Comparison of wake after sleep onset evaluated on actigraphy between HED patients and healthy controls. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Awake after sleep onset on polysomnography | One night | Comparison of wake after sleep onset evaluated on polysomnography between HED patients and healthy controls. |
| Micro-arousal index | One night | Comparison of micro-arousal index evaluated on polysomnography between HED patients and healthy controls. |
| Percentage of sleep stages | One night | Comparison of the percentage of sleep stages evaluated on polysomnography between HED patients and healthy controls. |
| Pittsburgh Sleep Quality Index | Day 0 | Subjective sleep quality. Pittsburgh Sleep Quality Index (PSQI) to assess sleep quality. Normal value \<5. The Epworth Sleepiness Scale to assess daytime sleepiness (normal value \<8) |
| Epworth Sleepiness Scale | Day 0 | Subjective sleep quality. The Epworth Sleepiness Scale to assess daytime sleepiness. Normal value \<8. The Epworth Sleepiness Scale to assess daytime sleepiness (normal value \<8) |
| WPPSI-IV intellectual ability test | Day 0 | Neuropsychologic tests in patients with hypohidrotic ectodermal dysplasia using the WPPSI-IV. Mean normal score is 100 ± 15. Abnormal for a score \<70. |
| WISC-V intellectual ability tests | Day 0 | Neuropsychologic tests in patients with hypohidrotic ectodermal dysplasia using the WISC-V. Mean normal score is 100 ± 15. Abnormal for a score \<70. |
| WAIS-IV intellectual ability tests | Day 0 | Neuropsychologic tests in patients with hypohidrotic ectodermal dysplasia using the WAIS-IV. Mean normal score is 100 ± 15. Abnormal for a score \<70. |
| TAP attention test | Day 0 | Attention test in patients with hypohidrotic ectodermal dysplasia using the TAP test. Mean normal value of T-score is 50 ± 1. Abnormal for a T-score \<30. |
| Melatonin secretion cycle | 48 hours | Comparison of the melatonin secretion cycle between DEH patients and healthy controls using the urinary quantitative assay of 6-sulfatoxymelatonin by ELISA method. |
| Conners 3 attention questionnaire | Day 0 | Attention questionnaire in patients with hypohidrotic ectodermal dysplasia using Conners 3 questionnaire. Mean normal value of T-score is 50 ± 10), abnormal T-score \> 69. |
| NEPSY-II for executive function test | Day 0 | Executive function evaluation in patients with hypohidrotic ectodermal dysplasia using the NEPSY-II Mean normal score is 10 ± 3, abnormal when score \<4. |
| Trail Making for executive function test | Day 0 | Executive function evaluation in patients with hypohidrotic ectodermal dysplasia using the Trail Making test. Mean normal score is 10 ± 3, abnormal when score \<4. |
| TAP subtests for executive function | Day 0 | Executive function evaluation in patients with hypohidrotic ectodermal dysplasia using the TAP subtests. Mean normal value of T-score TAP subtests is 50 ± 10, abnormal T-score is \<30. |
| BRIEF and BRIEF-P questionnaire for executive function | Day 0 | Executive function questionnaire in patients with hypohidrotic ectodermal dysplasia using BRIEF and BRIEF-P questionnaire. Mean normal value of T-score is 50 ± 10, abnormal T-score is \> 65. |
| Correlation between skin temperature and sleep efficiency and architecture | 10 days | Correlation between skin temperature and sleep efficiency in patients with hypohidrotic ectodermal dysplasia and healthy controls. Sleep efficiency is evaluated by actigraphy results and architecture by polysomnography results. Skin temperature is evaluated by a data logger placed on the skin. |
| Correlation between skin temperature and sleep questionnaires scores | 10 days | Correlation between skin temperature and sleep quality questionnaires scores in patients with hypohidrotic ectodermal dysplasia and healthy controls. |
| Correlation between skin temperature and melatonin secretion | 10 days | Correlation between skin temperature and melatonin secretion cycle in patients with hypohidrotic ectodermal dysplasia and in control subjects. |
| Correlation between sleep efficiency and neuropsychological test scores | 10 days | Correlation between sleep efficiency evaluated on actigraphy and neuropsychological test scores in patients with hypohidrotic ectodermal dysplasia. |
| NEPSY-II attention test | Day 0 | Attention test in patients with hypohidrotic ectodermal dysplasia using the NEPSY-II test. Mean normal value =10 (SD3). Abnormal for a score \<4). |
| Total sleep time on polysomnography | One night | Comparison of total sleep time evaluated on polysomnography between HED patients and healthy controls. |
| Sleep onset latency | One night | Comparison of sleep onset latency evaluated on polysomnography between HED patients and healthy controls. |
| Sleep efficiency on polysomnography | One night | Comparison of sleep efficiency evaluated on polysomnography between HED patients and healthy controls. |
Countries
France
Outcome results
None listed