Evaluation of a Simplified Method for Diagnosis of Sleep Apnea in Children and Adults With Down Syndrome
Summary
People with Down syndrome are at increased risk of sleep apnea, not only from obstruction of the upper airway, but also of central origin. According to published data, sleep apnea may occur in at least 40% of children and adults with Down syndrome. Consequences of these sleep apnea are numerous : failure to thrive, cognitive decline, high blood pressure, heart disease, accident due to day sleepiness, fatigue. This condition is treatable in people with Down syndrome, as it is in ordinary people.
Diagnosis of sleep apnea in people with Down syndrome is therefore a major concern. In addition, data regarding age of apparition of this complication are missing, making repeated screening necessary.
Polysomnography is the method of choice for the diagnosis of sleep apnea. Unfortunately, it is time consuming and sleep departments are heavily busy.
Description
The main objective of our study is to evaluate an easier screening strategy combining questionnaire and overnight recording of few data, compared to polysomnography.
We hope our strategy will permit regular screening for people with Down syndrome, helping us to draw guidelines for the survey of sleep apnea in this population.
Study Design
Observational Model: Case-Only, Time Perspective: Prospective
Conditions
Down Syndrome
Intervention
Polysomnography
Location
CHU de Grenoble
Grenoble
France
38000
Status
Not yet recruiting
Source
Centre Hospitalier Universitaire de Saint Etienne
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT00951730
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
Polysomnography
Simultaneous and continuous monitoring of several parameters during sleep to study normal and abnormal sleep. The study includes monitoring of brain waves, to assess sleep stages, and other physiological variables such as breathing, eye movements, and blood oxygen levels which exhibit a disrupted pattern with sleep disturbances.
22q11 Deletion Syndrome
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Costello Syndrome
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
Loeys-dietz Syndrome
An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.
Plummer-vinson Syndrome
A syndrome of DYSPHAGIA with IRON-DEFICIENCY ANEMIA that is due to congenital anomalies in the ESOPHAGUS (such as cervical esophageal webs). It is known as Patterson-Kelly syndrome in the United Kingdom.
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