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Query: UMLS:C0037315 (sleep apnea)
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This case report describes 3 patients with Down syndrome and obstructive breathing problems, ages: 5 months, 15 months, and 22 years. The youngest one had normal cardiopulmonary function at birth, but soon developed a pulmonary hypertension. The next had a severe atrioventricular defect and additional pulmonary hypertension and there was little hope for her to survive heart surgery. The oldest one had had apneas since childhood with increasing severity, but was regarded as having normal heart function. All 3 were operated to relieve their breathing obstruction. The 5-month-old boy improved only slightly after an initial UPPP and had to be tracheotomized, which solved his problems. The tracheotomy could be removed when he was one year. The 15-month-old girl was cured of her breathing problems through an A + T and survived her heart surgery one month later. Tonsillectomy and UPPP was performed on the oldest patient. Following surgery, he had an episode of life-threatening bleeding and developed a DIC syndrome, and was critically ill for 18 days. After he recovered, his sleep apnea had improved. Once a myxoedema was diagnosed and treated, he made further progress. These cases stress the significance of early recognition of sleep apnea in children with Down syndrome and the importance of a careful preoperative investigation in collaboration with cardiologists.
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PMID:Down syndrome and sleep apnea--a therapeutic challenge. 183 Nov 85

A questionnaire survey of 74 parents of children with Down syndrome was conducted. Results indicated that adenotonsillectomy benefited their children by eliminating or reducing the symptoms of snoring, sleep apnea, nasal drainage, and mouth breathing. On the basis of parental responses, it appears that in the absence of nasal obstruction, adenotonsillectomy fails to improve drooling or tongue protrusion. Adenoid tissue is physiologically important to the child with Down syndrome and its removal can result in hypernasality. Two children in the survey sample who underwent adenoidectomy and/or tonsillectomy developed this complication. They were given complete speech and language testing and evaluated with cinefluoroscopy. Both structural and functional causes of hypernasality were identified. Structural abnormalities included a high-arched short hard palate and a short soft palate. Hypotonia, slowed motor learning, and oral motor developmental delay were confounding functional factors in these patients. The incidence of postoperative hypernasality found in these patients is higher than in the general population and should be an important consideration before performing an adenoidectomy.
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PMID:Risks and benefits of adenotonsillectomy for children with Down syndrome. 294 58

A 12-year-old girl is presented with Down's syndrome and lingual tonsillitis causing sleep apnoea. In order to overcome her sleep apnoea she adopted a functional sleeping posture. The sleep apnoea was successfully treated by a single staged lingual tonsillectomy without preliminary tracheostomy. A return to a normal sleeping posture occurred spontaneously in the early post-operative period.
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PMID:Down's syndrome with lingual tonsil hypertrophy producing sleep apnoea. 297 59

Four infants with Down syndrome developed cor pulmonale and heart failure in association with chronic upper airway obstruction. Features of the sleep apnea syndrome were conspicuous; namely, noisy breathing with retraction, cyanosis and frequent apnea during sleep, and daytime lethargy and somnolence. The clinical picture masqueraded as cyanotic congenital heart disease. Arterial blood gas analyses revealed alveolar hypoventilation, especially during sleep. The nature of the obstructive element was variable. Adenoidectomy provided partial relief in one patient, and tonsillectomy and adenoidectomy resulted in temporary improvement in two others. Three patients were markedly benefitted by tracheostomy. Functional inspiratory pharyngeal closure was demonstrated fluorographically in one patient. Infants with Down syndrome may be predisposed to upper airway obstruction by virtue of hypoplasia of facial and oropharyngeal structures and generalized hypotonia. Additional obstructive elements may be contributed by hypertrophied lymphoid tissue, excessive secretions, and glossoptosis. Removal of the obstructive element is helpful, but functional obstruction may only be relieved by tracheostomy.
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PMID:Alveolar hypoventilation and cor pulmonale associated with chronic airway obstruction in infants with Down syndrome. 645 3

Disorders of breathing related to sleep are relatively newly recognized and less than fully understood. This review presents the terminology used to describe them, and describes the physiology of sleep and the control of ventilation, the pathophysiology of breathing disorders during sleep, their various clinical manifestations, current diagnostic techniques, and the treatment modalities available at present. Among the diagnostic approaches discussed are airway fluoroscopy during sleep, pneumography, and polysomnography. Approaches to medical and surgical management of these disorders are reviewed. Speculation regarding the underestimation of the prevalence of these disorders, the male predominance, and their relationship to snoring, coronary artery disease, and hypertension, which also show male predominance, are presented. Also suggested is a relationship of sleep apnea, obesity, and mental retardation in childhood-onset or congenital disorders such as Down's syndrome and Prader-Willi syndrome, and in other endocrine dysfunction diseases.
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PMID:Sleep-related breathing disorders. 702 76

Obstructive sleep apnea in children may result in hypoxia, right-sided heart failure, and sudden death. Children with craniofacial deformities and/or cerebral palsy are at high risk for the development of obstructive sleep apnea. Prompted by the excellent results obtained in adults when sleep apnea was managed by an aggressive surgical approach, we undertook a similar treatment philosophy in children. Twenty-eight patients representing four diagnostic groups were evaluated and operated on for severe upper airway obstruction: Down syndrome (n = 5), cerebral palsy (n = 12), Goldenhar syndrome (n = 4), and a mixed apnea group (n = 7). Tracheostomy was avoided in 25 of 28 patients (89 percent), with a marked decrease in apnea (median 90 percent) and hypopnea (median 87 percent) episodes. Tongue hyoid suspension and skeletal expansion procedures, which were the mainstay of treatment, were applied for the first time in children and adolescents with obstructive sleep apnea.
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PMID:Surgical therapy for severe refractory sleep apnea in infants and children: application of the airway zone concept. 760 28

We describe the effects of accidental intra-arterial injection of suxamethonium and atracurium into the femoral artery of an infant. An 11-month-old boy with Downs Syndrome and obstructive sleep apnoea presented for tonsillectomy. Peripheral venous cannulation proved impossible. A femoral venous line was sited following inhalational induction of anaesthesia. Suxamethonium was given through this line and produced no adverse effect. Subsequently, atracurium was given through the line causing an instant cutaneous flush in the leg followed by a marked ischaemic appearance. The femoral line was assumed to be sited in the femoral artery and was removed. At the end of the operation a caudal injection of 10 ml of 0.25% bupivacaine was performed. Within 30 min there was marked vasodilation of both legs with easily felt peripheral pulses. In view of the tonsillectomy anticoagulant and thrombolytic therapy were contra-indicated. There were no adverse sequelae.
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PMID:Leg ischaemia in an infant following accidental intra-arterial administration of atracurium treated with caudal anaesthesia. 903 55

To date, a paucity of information is available on the optimal management of obstructive sleep apnea in Down syndrome, which may have particularly important implications in this already vulnerable patient population. The objective of this study was to evaluate prospectively the results of a new surgical approach for the treatment of obstructive sleep apnea. Patients with Down syndrome and obstructive sleep apnea underwent preoperative and postoperative polysomnography and clinical and radiologic evaluation to determine prospectively the efficacy of sleep apnea surgery. Statistical testing of apnea index, respiratory disturbance index, and lowest oxygen saturation were compared by means of paired t tests. Seven children (five boys, two girls) from 3 to 12 years of age were subjected to a management protocol that included an aggressive surgical approach to the treatment of obstructive sleep apnea. Clinical symptoms and signs of obstructive sleep apnea, apnea index, respiratory disturbance index, lowest oxygen saturation, and surgical morbidity were the main outcome measures. Surgical treatment consisted of a combination of soft-tissue and skeletal alterations including tongue reduction (n = 6), tongue hyoid advancement (n = 4), uvulopalatopharyngoplasty (n = 7), and maxillary or midface advancement (n = 2). Polysomnography was obtained preoperatively and postoperatively in six patients. One patient was intubated preoperatively. Mean preoperative apnea index and respiratory disturbance index were 34.00 and 52.46 compared with mean postoperative values of 1.62 and 6.46, respectively. Clinically, all patients were improved symptomatically in terms of snoring, noisy breathing, and oxygen requirements. The one patient who had been intubated preoperatively for respiratory failure was extubated successfully but later developed recurrent tricuspid regurgitation and was found to have fixed pulmonary hypertension with cor pulmonale. This patient represented the only treatment failure and underwent tracheostomy. An aggressive surgical approach aimed at correcting all anatomic abnormalities associated with upper airway obstruction was applied successfully to the treatment of obstructive sleep apnea in Down syndrome. We suggest periodic polysomnography in patients with Down syndrome, especially if there is unexplained deterioration in mental capacity or other signs and symptoms of obstructive sleep apnea. Surgical treatment should address both the soft-tissue abnormalities and the skeletal deformities such as midface retrusion. Preoperative cardiac ultrasonography is important to determine the presence of right-sided heart failure, which may be an indication for cardiac catheterization to determine pulmonary venous pressures.
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PMID:Down syndrome: identification and surgical management of obstructive sleep apnea. 904 80

Obstructive sleep apnoea episodes have been reported repeatedly in Down's syndrome (DS) patients as a consequence of the presence of predisposing malformations or intercurrent pathology of the upper airways. There are no data on respiratory patterns of uncomplicated Down's syndrome subjects. In order to evaluate the eventual effects of central nervous system (CNS) impairment on respiration in DS, we studied the respiratory patterns during sleep of a group of 10 DS subjects, aged 8.6-32.2 y, without relevant upper airway pathology. In order to control the possible effects of sleep structure and mental retardation on the results obtained, we compared the findings in DS with those obtained from a group formed by subjects affected by fragile X syndrome (six males and one female, aged 10.0-15.42 y) another genetically determined type of mental retardation. Sleep structure was similar in both groups; however, DS subjects showed significantly higher indices of central sleep apnoea and of oxygen desaturation than fragile X patients (P < 0.005). As far as DS individuals were considered, a significant preponderance of central, as opposed to obstructive, sleep apnoeas was found (89.4% vs. 9.4%, respectively; 1.2% were mixed) which showed a significant age-related increase. Central respiratory pauses were mostly preceded by sighs, which occurred more frequently during sleep stages 1 and REM, and were often organized in long sequences of periodic-like breathing. During REM sleep, they were less frequently preceded by sighs and by body movements than during NREM sleep. Obstructive sleep apnoeas occurred more often during REM sleep and were more rarely preceded by sighs or by body movements. Both central and obstructive apnoeas induced significant oxygen desaturation in 50-69.6%. Sleep structure was not significantly modified by apnoeas and oxygen desaturation. We hypothesize that the increase in central sleep apnoeas is related to a dysfunction of the central respiratory control at a brainstem level in DS.
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PMID:Respiratory patterns during sleep in Down's syndrome:importance of central apnoeas. 937 33

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


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