Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Obstructive sleep apnea syndrome (OSAS) is the most common organic disorder of excessive daytime somnolence. In cross-sectional studies the minimum prevalence of OSAS among adult men is about one per cent. Prevalence is highest among men aged 40-65 years. The highest figures for this age group indicate that their prevalence of clinically significant OSAS may be 8.5% or higher. Habitual snoring is the most common symptom of OSAS (70-95%). The most significant risk factor for OSAS is obesity, especially upper body obesity. Other risk factors for snoring, and for OSAS, are male gender, age between 40 and 65 years, cigarette smoking, use of alcohol, and poor physical fitness. Upper airway obstruction with snoring or sleep apnea are commonly seen in children of all ages. Snoring is very common among infants and children with Pierre Robin syndrome and among infants with nasal obstruction. Snoring and obstructive sleep apnea are also very common in men with acromegaly. Many other syndromes or diseases exist in which the upper airway is narrowed. Prevalence of snoring and sleep apnea is increased in all such situations. It has been suggested that sleep apnea may be one mechanism contributing to sleep-related mortality. The prevalence of every night snoring seems to decrease after the age of 65. However, more than 25% of persons over 65 have more than five apneas per hour of sleep. It remains to be seen whether this finding has clinical significance. Partial upper airway obstruction, even without apneas, may influence pulmonary arterial pressure and may cause daytime sleepiness and some health consequences.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Epidemiology of obstructive sleep apnea syndrome. 147 Aug

A 12-year-old schoolgirl presented with severe obstructive sleep apnoea due to the Robin sequence. The sleep apnoea, together with the associated findings of daytime sleepiness, nocturia, right heart strain and growth retardation, were successfully reversed by nasal CPAP therapy. This therapy allows postponement of a decision concerning corrective surgery until after full growth has occurred.
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PMID:Treatment of Robin sequence with nasal CPAP. 778 92

A non-surgical technique for the treatment of upper airway obstruction in oculoauriculovertebral dysplasia using an intra-oral orthopaedic appliance is described, which resulted in respiratory and feeding problems being solved without side-effects. This non-invasive management might also be of major benefit in the treatment of airway obstruction associated with Pierre Robin sequence, mandibular micrognathia in other craniofacial anomalies, or obstructive sleep apnoea.
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PMID:Non-surgical treatment of upper airway obstruction in oculoauriculovertebral dysplasia: a case report. 963 64

A 12 year old female with the Robin sequence presented with a one year history of snoring, witnessed apnoeas and daytime sleepiness. Surgery in early childhood had consisted of cleft palate repair, tonsillectomy and adenoidectomy and, later, revision palatoplasty. Overnight polysomnography (PSG) demonstrated severe obstructive sleep apnoea syndrome with an apnoea/hypopnoea index (AHI) of 49 events x h(-1), and repetitive oxygen desaturations below 50%. Nasal continuous positive airway pressure (nCPAP) effectively controlled her sleep abnormalities. After 3 yrs of nCPAP therapy, she requested discontinuation and was fully reassessed. PSG without nCPAP revealed an AHI <5 events x h(-1) with no desaturations below 90% and normal sleep quality. A repeat lateral cephalometrogram showed increased mandibular length and posterior airway space and reduced soft palate length. The patient remains asymptomatic 9 months following nCPAP discontinuation. This case indicates that nasal continuous positive airway pressure is an effective nonsurgical therapy in children with obstructive sleep apnoea syndrome and the Robin sequence. It is likely that mandibular growth, increase in mandibular length and enlargement of the posterior airway space was responsible for the resolution of obstructive sleep apnoea syndrome in this case.
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PMID:Resolution of obstructive sleep apnoea with growth in the Robin sequence. 972 9

Twenty consecutive children, ranging in age from 6 days to 18 years, were treated with skeletal expansion, in addition to soft-tissue reduction, for medically refractory obstructive sleep apnea. The underlying diagnoses were craniofacial microsomia (n = 6), Down syndrome (n = 3), Pierre Robin syndrome (n = 3), cerebral palsy (n = 3), Nager's syndrome (n = 1), Treacher Collins syndrome (n = 1), cri du chat syndrome (n = 1), juvenile rheumatoid arthritis (n = 1), and temporomandibular joint ankylosis (n = 1). Fourteen children had severe medically refractory sleep apnea and were tracheostomy candidates; in the remaining six, tracheostomies were placed shortly after birth and could not be decannulated. Overnight, 12-channel polysomnography was obtained before and after surgery. The mean apnea index improved from 7.42 to 1.26, the mean respiratory disturbance index improved from 25.24 to 1.72, and the mean lowest apnea-related oxygen saturation improved from 68% to 88%. Of the 14 children with medically refractory obstructive sleep apnea, two required tracheostomies. Of the six patients with tracheostomies, five have been decannulated at the time of this writing. Skeletal expansion in conjunction with soft-tissue reduction in the pediatric population permits substantial increases in the volume of both the nasopharynx and oropharynx. Creative use of conventional osteotomies and the application of distraction osteogenesis have enabled surgeons to apply maxillofacial and craniofacial techniques in treating children with obstructive sleep apnea.
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PMID:Skeletal expansion combined with soft-tissue reduction in the treatment of obstructive sleep apnea in children: physiologic results. 980 73

Some patients with cleft lip/palate or isolated cleft palate seem to develop snoring as one possible symptom of an obstructive sleep apnoea syndrome after velopharyngoplasty (VPP). The aim of this paper was to determine whether there was a difference in the posterior airway space (PAS) between patients with a VPP who snored and those who did not. Four standard parameters were measured in lateral cephalograms of 20 patients with cleft lip/palate and isolated cleft palate, without diagnosis of further syndromes (e.g. Pierre Robin sequence), having undergone VPP, to examine the dimensions of the PAS. Data were set in correlation to the symptom of snoring, and compared with those of 40 patients without cleft undergoing orthodontic treatment and with 20 patients with cleft lip/palate or isolated cleft palate but not VPP. Metric parameters were significantly different after VPP in patients with clefting and snoring compared to the group of cleft patients without snoring. All patients with clefts exhibited at least in one dimension a constriction when compared to patients without clefting. In conclusion, cleft lip/palate and isolated cleft palate patients tend to have constrictions of the PAS. VPP may induce snoring and further narrowing. Recall and analysis for obstructive sleep apnoea syndrome should be mandatory.
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PMID:Snoring in cleft patients with velopharyngoplasty. 1782 26

Melnick Needles syndrome (MNS), Treacher Collins syndrome (TCS) and Pierre Robin syndrome (PRS) are congenital abnormalities with characteristic facial appearances that include micrognathia. A 20-year-old girl with MNS, a 16-year-old boy with TCS and a 12-year-old girl with PRS attended the sleep apnoea clinic at our institution at different times. Diagnostic sleep studies were initially performed on all three patients to confirm the diagnosis of obstructive sleep apnoea syndrome (OSAS). They subsequently commenced nasal CPAP (nCPAP) treatment and their progress was followed. A limited sleep study on the patient with MNS demonstrated moderate/severe OSAS with an AHI of 33 events/h. Commencement of nCPAP resulted in symptomatic improvement. Overnight oximetry in the patient with TCS showed repeated desaturation to SpO2<90%. Subsequent treatment by nCPAP almost completely abolished the desaturation events. Overnight polysomnography in the patient with PRS demonstrated severe OSAS with an AHI of 49 events/h. After 3 years of nCPAP therapy, this patient requested discontinuation of treatment. Subsequent polysomnography without nCPAP revealed an AHI of <5 events/h. The use of nCPAP in the patients with MNS and TCS resulted in effective control of their sleep abnormalities. Mandibular growth and enlargement of the posterior airway space led to resolution of OSAS in the patient with PRS. There is a definite role for nCPAP therapy in patients with congenital micrognathia and OSAS. The use of nCPAP may obviate the need for more invasive corrective surgery for OSAS and is not necessarily a life-long requirement.
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PMID:The role of nasal CPAP in obstructive sleep apnoea syndrome due to mandibular hypoplasia. 2019 49

Children with craniofacial syndromes are at risk of sleep disordered breathing, the most common being obstructive sleep apnea. Midface hypoplasia in children with craniosynostosis and glossoptosis in children with Pierre Robin syndrome are well recognized risk factors, but the etiology is often multifactorial and many children have multilevel airway obstruction. We examine the published evidence and explore the current management strategies in these complex patients. Some treatment modalities are similar to those used in otherwise healthy children such as adenotonsillectomy, positive pressure ventilation and in the refractory cases, tracheostomy. However, there are some distinct approaches such as nasopharyngeal airways, tongue lip adhesion, mandibular distraction osteogenesis in children with Pierre Robin sequence, and midface advancement in children with craniosynostoses. Clinicians should have a low threshold for referral for evaluation of sleep-disordered-breathing in these patients.
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PMID:Craniofacial syndromes and sleep-related breathing disorders. 2645 41

Pierre Robin sequence consists of clinical triad of micrognathia, glossoptosis, and airway compromise with variable inclusion of cleft palate. Evaluation of airway obstruction includes physical examination, polysomnography for obstruction events, and a combination of nasoendoscopy and bronchoscopy to search for synchronous obstructive lesions. A multidisciplinary approach is required given the high rate of syndromic disease. Management of airway obstruction and feeding starts with nonsurgical maneuvers, such as prone and lateral positioning, nasopharyngeal stenting, and continuous positive airway pressure. Surgical management includes mandibular distraction and tongue-lip adhesion. Subglottic obstruction and central sleep apnea may best be treated with tracheostomy.
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PMID:Pierre Robin Sequence. 3085 56