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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Prader-Willi syndrome is characterized by infantile hypotonia, early childhood obesity, mental deficiency, short stature, small hands and feet, and hypogonadism. Many patients also have hypersomnolence, experience daytime hypoventilation, and subsequently die prematurely of cardiorespiratory failure. Hypersomnolence and daytime hypoventilation are also common occurrences in the sleep apnea syndrome. For a better understanding of the relationship of sleep to the features of the Prader-Willi syndrome, we retrospectively reviewed five patients (two adults, one adolescent, and two children) with this syndrome who underwent polysomnography. All patients were obese; they had hypersomnolence and daytime hypoxemia, and they nored. In all patients, the apnea plus hypopnea index was less than 10 episodes per hour of sleep. During rapid eye movement sleep, nonapneic reductions in oxyhemoglobin saturation were detected in one adult and in one child. Despite the presence of morbid obesity and a history of snoring, patients with Prader-Willi syndrome seem to have only mild sleep-disordered breathing.
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PMID:Sleep and breathing in patients with the Prader-Willi syndrome. 194 44

Pulmonary hypertension without any cardiovascular malformation was diagnosed by heart catheterization in a 4 year old girl with trisomy 21. A suspected obstructive sleep apnea syndrome was confirmed by polysomnography which revealed numerous obstructive apneas and hypopneas (apnea-index 23/h) with marked oxygen desaturation and a disturbed sleep pattern. Three months after adenotonsillectomy the mother reported her daughter having a quiet sleep without snoring. Polysomnography did not show any apnea nor any oxygen desaturation below 90%. A decrease of the pulmonary artery pressure was documented. Facial dysmorphias and muscle hypotonia predispose patients with trisomy 21 to obstructive sleep apnea, especially if hypertrophy of tonsills and adenoids coexist. Frequent arousals and hypoxia during sleep can result in failure to thrive and pulmonary hypertension. These consequences can be prevented by early diagnosis and treatment.
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PMID:[Obstructive sleep apnea syndrome in a child with trisomy 21]. 215 Aug 74

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

Snoring (inspiratory noise related to narrowing of the upper airways) and obstructive sleep apnea (OSA) are two aspects of the same basic disorder: sleep-related narrowing of the upper airways. Patients with OSA have been heavy snorers for years and even decades. Lying supine induces snoring and mild OSA in heavy snorers due to hypotonia of pharyngeal dilator muscles, decreasing waking neural drive and recumbent position, which contribute to functional narrowing of the upper airways. Functional factors in obstruction during sleep include (a) respiratory instability prevalent in the male sex, (b) increased extensibility of the lax tissues surrounding the oro-pharynx and (c) deficient contraction of the pharyngeal dilator muscles during inspiration. These effects are worsened by sleep deprivation and fragmentation, alcohol intake and sedatives. Anatomical factors favoring narrowing of the upper airways in snorers and OSA patients are (a) abnormally narrow airways as well as (b) increased thickness and length of the velum palatinum in snorers and OSA patients, (c) tonsillar and adenoid hypertrophy, micro- and retrognathia, and nasal insufficiency, (d) obesity with fat infiltration of the soft tissues and in particular of the oropharynx, (e) relatively open mandibular angle, hypertrophy and thickness of the tongue, and lowered hyoid bone (as shown by MRI imaging). It is possible that many anatomical abnormalities may be the consequence of snoring and obstructive apnea. During NREM sleep the ineffective inspiratory efforts progressively increase with worsening hypoxia and hypercapnia. The upper airways become patent again when arousal induces phasic activation of the dilator pharyngeal muscles.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Pathogenic aspects of snoring and obstructive apnea syndrome. 318 70

Snoring usually is trivial and unimportant, but it can turn into a social or medical problem. Obesity, hypertension and heart disease are more frequent among snorers than among nonsnorers, and especially snorers with hypersomnia during the day are at risk. Hypersomnia in association with snoring usually signifies obstructive sleep apnea. Increased resistance in the upper airways, together with negative inspiratory pharyngeal pressure and muscular hypotonia during deep non-REM and REM sleep, lead to collapse of the pharynx, hypoxia and hypercapnia. Only after arousal from sleep does muscle tone return, pharyngeal obstruction reopen and airflow resume. Since this process can occur 300 or 400 times a night, repetitive alveolar hypoventilation leads to pulmonary-arterial hypertension and cor pulmonale, and the repetitive sympathetic activations can cause systemic hypertension or serious cardiac arrhythmias. The countless arousals deprive the sufferer of deep non-REM and REM sleep and their consequence is sleep fragmentation. The symptoms are excessive daytime sleepiness, intellectual deterioration and personality and behavioral changes. Oronasomaxillofacial, endocrine and neuromuscular anomalies and diseases predispose to sleep apnea, and alcohol or CNS-depressant drugs can favour its occurrence. Diagnosis is made by nighttime oxymetry, and if this is abnormal, by polysomnography. After polysomnography it is possible to distinguish between obstructive and nonobstructive sleep apnea, and the decisions for an adequate treatment can be made.
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PMID:[Dangerous snoring. Sleep-apnea syndrome]. 331 92

We studied the effect of alcohol ingestion on sleep-induced breathing abnormalities and arterial oxyhaemoglobin saturation in seven patients with a range of sleep-induced upper airway occlusion. The characteristics of each patient's sleep-induced breathing abnormality was established on one or more control all-night studies, and then a further all-night study was done immediately following alcohol ingestion. Alcohol increased the duration and frequency of the occlusive episodes in five patients with obstructive sleep apnoea, and resulted in a marked increase in the degree of hypoxaemia in the first hour of sleep. In two patients with benign chronic snoring, alcohol induced frank obstructive sleep apnoea during the first hour of sleep. We suggest that the increased tendency to develop obstructive apnoea after alcohol is the result of alcohol-induced oropharyngeal muscle hypotonia, while the increased duration of obstructive apnea is the result of alcohol-induced depression of arousal mechanisms.
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PMID:Alcohol, snoring and sleep apnea. 707 45

About 40% of adults are habitual snorers. 2% of women and 4% of men between 30 and 60 years of age present additional sleep disordered breathing. There is a continuous spectrum from simple to disease-causing snoring ranging from merely disturbing noises to pharyngeal obstructions and breathing pauses. Repetitive episodes of upper airway obstructions lead to frequent arousals from sleep. Sleep fragmentation is responsible for non-refreshing sleep and subsequent excessive daytime sleepiness resulting in reduced performance at work, social problems and a higher risk for accidents. Furthermore there is a correlation between arousals and cardiovascular abnormalities. Anatomic narrowing of the upper airway or hypotonia of the orpharyngeal dilator muscles favour collapse of the oropharyngeal walls. Obstructive sleep apnea syndrome is characterized by repetitive oxyhemoglobin desaturations during sleep recorded by pulseoximetry. Polygraphy quantifies the average number of apneas and hypopneas which occur during one hour of sleep (apnea-hypopnea index = AHI). In upper airway resistance syndrome (= UARS), upper airway resistance is increased, but pharyngeal obstruction is not complete. Saturation doesn't decrease significantly, but arousals with consecutive sleep disruption still occur. Polysomnography is a comprehensive study including EEG-, EOG- and EMG-recordings. Sleep stages and events can be scored to evaluate sleep architecture, sleep efficiency and sleep fragmentation.
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PMID:[From simple snoring to sleep apnea syndrome--clinical spectrum]. 1095 48

The sleep apnoea/hypopnoea syndrome (SAHS) is characterized by repeated upper airway narrowing or collapse during sleep. The obstruction is caused by the soft palate and/or base of tongue collapsing against the pharyngeal walls because of decreased muscle tone. These episodes are accompanied by hypoxaemia, surges in blood pressure, brief arousal from sleep and pronounced snoring. Individuals with occult disease are at heightened risk of motorway accidents because of excessive sleepiness, sustained hypertension, myocardial infarction, and stroke. The signs and symptoms of SAHS may be recognisable in the dental practice. Common findings in the medical history include daytime sleepiness, snoring, hypertension, and type 2 diabetes mellitus. Common clinical findings include male gender, obesity, increased neck circumference, excessive fat deposition in the palate, tongue (macroglossia) and pharynx, a long soft palate, a small recessive mandible and maxilla, and calcified carotid artery atheromas on panoramic and lateral cephalometric radiographs. Dentists who recognise these signs and symptoms have an opportunity to diagnose patients with occult SAHS. After confirmation of the diagnosis by a physician, dentists can participate in the management of the disorder by fabricating mandibular advancement appliances that enlarge the retroglossal space by anterior displacement of the tongue and performing corrective upper airway surgery that prevents recurrent airway obstruction.
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PMID:Dentistry's role in the diagnosis and co-management of patients with sleep apnoea/hypopnoea syndrome. 1097 58

Joubert syndrome is a rare autosomal recessive disease characterized by malformations of the cerebellar vermis, hypotonia, developmental delay, and respiratory variability. Because little is known about sleep and ventilatory dysregulation in this patient population, a questionnaire was distributed at the Joubert Syndrome and Related Disorders Foundation Conference. This questionnaire addressed respiratory and sleep abnormalities, and included the Pediatric Sleep Questionnaire. Parents or proxies completed questionnaires for patients unable to do so themselves because of young age or neurologic problems. Twenty surveys were collected. The median age was 8.3 years, and 45% were female. Seven patients (35%) reported existing episodic tachypnea, four (20%) reported apnea, and three (15%) reported both. Snoring was reported by 10 patients (50%), of whom four snored nightly and five had coexisting daytime tachypnea. Six of 14 (43%) Pediatric Sleep Questionnaire responders had scores suggestive of sleep-related breathing disorder. These results suggest that episodic tachypnea, apnea, snoring, and Pediatric Sleep Questionnaire scores suggestive of sleep-related breathing disorder are common in Joubert syndrome. Early detection and improved understanding of sleep and breathing abnormalities may contribute to improved outcomes for patients with Joubert syndrome.
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PMID:Self-reported sleep and breathing disturbances in Joubert syndrome. 2211 3

A 2-year-old boy with an initial diagnosis of Hunter syndrome (mucopolysaccharidosis II) had a more severe phenotype than expected, which warranted further evaluation. The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with snoring, wide-spaced teeth, short thick neck, hepatomegaly, an inguinal hernia repaired, early clawhand deformities, and severe generalized hypotonia. X chromosome microarray revealed a large deletion encompassing the genes IDS, FMR1, and AFF2 (FMR2) confirming the diagnoses of both Hunter and fragile X syndromes. This case is also a reminder to clinicians that for optimum patient care, further diagnostic testing is warranted if there is concern that a patient's phenotype is more severe or complex than would be expected for the initial neurogenetic diagnosis.
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PMID:Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2). 2219 May


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