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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autonomic system dysfunction has been reported to occur frequently in patients with Down's syndrome (DS) and is constituted mainly by an imbalance between the sympathetic and vagal systems. The analysis of heart rate variability (HRV) during sleep is a quantitative reliable method for studying such a mechanism, but it has not yet been extensively and adequately applied in DS. In this study, HRV during sleep was evaluated in seven DS patients and in six normal controls, by also controlling for the presence of sleep apnea or arousal. The main results were an increased sympathetic function (low-frequency component of HRV) and a decreased vagal activity (high-frequency component of HRV) in DS with respect to normal controls, during apnea-free periods. Moreover, the presence of apnea, in DS, induced a further significant increase in low-frequency and very low-frequency components of HRV during sleep Stage 2. This study provides additional evidence of a brainstem dysfunctioning in DS, responsible for the abnormal imbalance between the sympathetic and vagal systems and confirms the brainstem involvement already suggested in the literature in order to explain brainstem-auditory evoked potential abnormalities and central sleep apnea in these patients.
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PMID:Heart rate variability and apnea during sleep in Down's syndrome. 984 55

Septic arthritis is a rarely reported manifestation of disease due to Streptococcus pneumoniae. We have reviewed our recent experience of this disease in 14 adult patients. Common features in patients with S. pneumoniae septic arthritis included advanced age (median=63 y), pre-existing joint disease (6/14), large joint disease (14/14), polyarthritis (6/14), and associated meningitis, pneumonia or both (6/14). Two patients with septic arthritis and meningitis, and another with Down's syndrome and sleep apnoea, died during treatment. In the remaining 11 patients, treatment for at least 19 d, predominantly with intravenous benzyl penicillin, plus joint lavage, resulted in cure.
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PMID:Streptococcus pneumoniae septic arthritis in adults. 1105 52

The family physician's holistic approach to patients forms the basis of good health care for adults with Down syndrome. Patients with Down syndrome are likely to have a variety of illnesses, including thyroid disease, diabetes, depression, obsessive-compulsive disorder, hearing loss, atlantoaxial subluxation and Alzheimer's disease. In addition to routine health screening, patients with Down syndrome should be screened for sleep apnea, hypothyroidism, signs and symptoms of spinal cord compression and dementia. Patients with Down syndrome may have an unusual presentation of an ordinary illness or condition, and behavior changes or a loss of function may be the only indication of medical illnesses. Plans for long-term living arrangements, estate planning and custody arrangements should be discussed with the parents or guardians. Because of improvements in health care and better education, and because more people with this condition are being raised at home, most adults with Down syndrome can expect to function well enough to live in a group home and hold a meaningful job.
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PMID:Health care management of adults with Down syndrome. 1157 24

Laser resection of lingual tonsils and formal closure of a tracheostomy improved the airway in a 14-yr-old patient with Down's syndrome. Non-invasive airway support to treat obstructive sleep apnoea was postponed with this treatment. During the anaesthetic a laryngeal mask airway was used to support the airway after lingual tonsillectomy, to assess the suitability of defunctioning the tracheostomy. Laryngeal mask airways assist management of lingual tonsils. Lingual tonsillar hypertrophy can lead to obstructive sleep disorders.
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PMID:Tracheostomy, lingular tonsillectomy and sleep-related breathing disorders. 1206 16

Ninety percent of normal children with obstructive sleep apnoea (OSA) improve, or are cured, with adenotonsillectomy. However, 10% of apparently normal children show no improvement following this operation and it has a very poor outcome in Down's syndrome, where only about one in six children improve. Adenotonsillectomy is also rarely curative in children with cerebral palsy or craniofacial syndromes. In these children investigations of the site and severity of their obstruction is necessary. Taking a detailed history and asking the parents to fill in a questionnaire for data collection will identify most children with OSA. Pulse oxymetry has some limitations but is a good screening tool. It does not provide enough information for the management of children with complex upper airway obstruction who are likely to have on going problems with OSA throughout their childhood despite intervention. For these children formal sleep studies are needed. Full polysomnography is the gold standard investigation to ascertain the severity of OSA. To ascertain the site of upper airway obstruction during sleep, sleep nasendoscopy has been found to be an excellent tool. This is performed under a light general anaesthetic in main theatres and is demonstrated using video footage in the presentation. This is a new classification to document the site of airway obstruction in paediatric OSA. A micro-layryngobronchoscopy is also required in any child who has daytime noisy breathing, a previous history of cardiac malformation or Down's syndrome, in whom a more distal site of airway obstruction may be present.
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PMID:Investigations in paediatric obstructive sleep apnoea: do we need them? 1466 79

Down syndrome (DS) is an autosomal chromosomal anomaly which results from trisomy of all or part of chromosome 21. It is the single most common genetic cause of mental retardation affecting approximately 1 in 700 live births. Since its first description in 1866 by John Langdon Down, much research has focused on this condition. In the past two decades there has been a significant increase in information about its causes, diagnosis and medical and dental consequences. In this, the first of two articles, we pay tribute to the work of Harvey Brown, and we review the pathogenesis, general and cranio-dental features of Down Syndrome. The cause of DS is usually non-dysjunctive trisomy 21, with 91 percent of cases being maternally derived. Uncommon causes are mosaicism or translocation from other chromosomes. DS patients suffer from congenital cardiopathies, growth retardation, endocrinopathies, sleep apnoea, neoplasias and early-onset Alzheimer's disease. Typically, craniofacial features include midfacial hypoplasia with a resultant flattened face, ocular hypotelorism and mandibular prognathism. The universal characteristic of the DS face is the upward slanting of the palpebral fissures and epicanthic folds. Dental features include tooth size reduction, hypodontia, reduced root lengths, changes in tooth shape and excessive tooth wear.
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PMID:The Down syndrome patient in dental practice, part I: Pathogenesis and general and dental features. 1533 Mar 83

The use of noninvasive positive pressure ventilation (NPPV) is increasingly accepted as a treatment of respiratory problems in patients with neuromuscular disease. However, its use in mentally retarded and un-cooperative patients has not been reported. We report here the evaluation and treatment of sleep apnea in a Down syndrome patient. After recovering from a life threatening respiratory failure the patient had persistent sleep apnea syndrome. Limited examinations disclosed that he had two types of apnea; obstructive and central type apnea. Our treatment was a diet with intake restricted up to 1,000 kcal per day for the obstructive apnea, and NPPV with low dosage of oxygen for the obstructive and central apnea. With these treatments in one year's hospitalization, his quality of life was significantly improved. He has continued the treatment in the outpatient department and enjoys a better quality of life both at home and in the community. The successful treatment of this case may become an example of the more extensive use of NPPV for such respiratory problems in handicapped children and adults with behavioral problems.
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PMID:[Treatment of sleep apnea syndrome in a Down syndrome patient with behavioral problems by noninvasive positive pressure ventilation: a successful case report]. 1644 94

Otolaryngologic or ear, nose, and throat (ENT) problems are common in children with Down Syndrome (DS). This includes problems with chronic ear infections and chronic middle ear effusions with associated hearing loss, airway obstruction, and sleep apnea, as well as problems with chronic rhinitis and sinusitis. In addition, many of these ENT problems require surgical interventions, and there are special anesthesia considerations that need to be addressed in children with DS. These include subglottic stenosis, post-operative airway obstruction, and cervical spine concerns. As the care of children with DS has become more consistent and proactive, outcomes from the treatment of these ENT manifestations have improved. Aggressive interventions, both medical and surgical, have led to a decreased incidence of hearing loss, good control of the chronic rhinitis, and a better awareness of the incidence of sleep apnea and sleep-disordered breathing in individuals with DS. These common otolaryngologic manifestations of DS are reviewed with recommendations for ongoing care and monitoring.
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PMID:Down syndrome: common otolaryngologic manifestations. 1683 6

Diagnostic overnight polysomnograms of 33 children with Down syndrome who snored were reviewed. Mean age was 4.9 years, none had had adenotonsillectomy, 91% were non-obese (Down syndrome specific body mass index standard deviation score (BMI SDS) <+2.0) and yet 97% demonstrated obstructive sleep apnoea, with an average apnoea hypopnoea index (AHI) of 12.9 episodes per hour (normal <1) and an average oxygen desaturation of 4%. A higher AHI was associated with lower minimum Spo2, higher Tcco2 and higher number of arousals from sleep per hour (p<0.001). Polysomnography should be a routine investigation for children with Down syndrome who snore regardless of body habitus.
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PMID:Severity of obstructive apnoea in children with Down syndrome who snore. 1795 92

In current healthcare, transitional healthcare is a very important and timely issue. Thanks to the major advances made in medical care and technology, many children with childhood onset diseases and/or genetic syndromes survive to adulthood. These children are at risk of not being provided with adequate healthcare as they reach adulthood. Healthcare transition is an essential part of healthcare provision, referred to as the shift from one type of healthcare to another. In Maastricht, we developed a transition/out clinic led by a medical doctor specialized in persons with intellectual disability (ID), together with a clinical geneticist. We aim to coordinate healthcare issues based on guidelines if available. Also questions concerning living, daily activities, relations, sexuality, and sterilization can be discussed. The aging process of persons with ID has been a topic of interest in recent years. Little is known about the aging process of people with specific syndromes, except for persons with Down syndrome. We present some data of a recent questionnaire study in persons with Prader-Willi syndrome. In only 50% in persons with a clinical diagnosis genetic test results could be reported. The majority of persons were obese. Diabetes mellitus, hypertension, skin problems, sleep apnea, and hormonal problems like osteoporosis and hypothyroidism were common. Psychiatric problems were frequent, especially in the persons with uniparental disomy. Osteoporosis and sleep apnoea seem to be underestimated. Further longitudinal research is necessary for a better understanding of the aging process in PWS.
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PMID:Healthcare transition in persons with intellectual disabilities: general issues, the Maastricht model, and Prader-Willi syndrome. 1763 94


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