Home sleep study characteristics in patients with mucopolysaccharidosis

Kasapkara, Çiğdem Seher; Tümer, Leyla; Aslan, Ayşe Tana; Hasanoğlu, Alev; Ezgu, Fatih Süheyl; Küçükçongar, Aynur; Tunca, Zeynep; Köktürk, Oğuz

doi:10.1007/s11325-013-0862-z

Cited by 18 publications

(7 citation statements)

References 22 publications

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“…Other studies in the literature report intermediate percentages [ 1 – 3 , 12 – 15 , 41 – 43 ] (Table 3 ). MPS I and MPS VI patients appear to be at the greatest risk for severe OSA [ 1 , 15 , 42 ].…”

Section: Introductionmentioning

confidence: 99%

“…Management of airway involvement begins with the surgical removal of the obstruction [ 37 ], and the accumulation of GAGs in the adenoids and tonsils, with resulting hypertrophy, makes these structures frequent targets for surgical intervention [ 2 ]. Therefore, MPS patients with clinical symptoms of upper airway obstruction are often subjected to adenoidectomy and/or tonsillectomy, with data reported in the literature ranging from 70 to 20% of cases [ 1 – 3 , 7 , 12 , 19 , 29 , 34 , 37 , 42 ] (Table 4 ). Tonsil volume increase is also secondary to GAG deposits in the tonsillar fossa.…”

Section: Introductionmentioning

confidence: 99%

“…Therapeutically, adenoidectomy and tonsillectomy provide initial but only temporary relief of upper airway obstruction. Furthermore, the recurrence rate of adenoid hypertrophy after adenoidectomy in the MPS population is 56% [ 1 , 45 ], while in the normal population it is between 0.55 and 1.5% [ 42 ]. Adenotonsillectomy alone may not be a sufficient treatment for upper airway obstruction in patients with MPS.…”

Section: Introductionmentioning

confidence: 99%

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ENT and mucopolysaccharidoses

2018

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The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the enzymes involved in glycosaminoglycan (GAG) catabolism. Over time, GAGs accumulate in cells and tissues causing progressive damage, a variety of multi-organ clinical manifestations, and premature death. Ear, nose, and throat (ENT) disorders affect more than 90% of MPS patients and appear in the early stage of MPS; also reported are recurrent otitis media and persistent otitis media with effusion, macroglossia, adenotonsillar hypertrophy, nasal obstruction, obstructive sleep apnoea syndrome (OSAS), hearing loss, and progressive respiratory disorders. Undiagnosed MPS patients are frequently referred to otolaryngologists before the diagnosis of MPS is confirmed. Otolaryngologists thus have an early opportunity to recognize MPS and they can play an increasingly integral role in the multidisciplinary approach to the diagnosis and management of many children with MPS. The ENT commitment is therefore to suspect MPS when non-specific ENT pathologies are associated with repeated surgical treatments, unexplainable worsening of diseases despite correct treatment, and with signs, symptoms, and pathological conditions such as hepatomegaly, inguinal hernia, macrocephaly, macroglossia, coarse facial features, hydrocephalous, joint stiffness, bone deformities, valvular cardiomyopathy, carpal tunnel syndrome, and posture and visual disorders.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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ENT and mucopolysaccharidoses

2018

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“…Central sleep apnea was present in only one patient with MPS I. In a quite recent home sleep study on 19 patients with various subtypes of MPS, 18 were found to suffer from OSA (11 with severe OSA) (9). Thus, early recognition of OSA and proper treatment in those patients may reduce the high cardiovascular mortally and perhaps improve their daily vigilance.…”

Section: Storage Diseasesmentioning

confidence: 96%

Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist

Gadoth

Oksenberg

2014

Front. Neurol.

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Although sleep abnormalities in general and sleep-related breathing disorders (SBD) in particular are quite common in healthy children; their presence is notably under-recognized. Impaired sleep is a frequent problem in subjects with inborn errors of metabolism as well as in a variety of genetic disorders; however, they are commonly either missed or underestimated. Moreover, the complex clinical presentation and the frequently life-threatening symptoms are so overwhelming that sleep and its quality may be easily dismissed. Even centers, which specialize in rare genetic-metabolic disorders, are expected to see only few patients with a particular syndrome, a fact that significantly contributes to the under-diagnosis and treatment of impaired sleep in this particular population. Many of those patients suffer from reduced life quality associated with a variable degree of cognitive impairment, which may be worsened by poor sleep and abnormal ventilation during sleep, abnormalities which can be alleviated by proper treatment. Even when such problems are detected, there is a paucity of publications on sleep and breathing characteristics of such patients that the treating physician can refer to. In the present paper, we provide an overview of sleep and breathing characteristics in a number of rare genetic–metabolic disorders with the hope that it will serve as a reminder for the medical professional to look for possible impaired sleep and SBD in their patients and when present to apply the appropriate evaluation and treatment options.

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“…HSATs have been used in a few other small studies of children with comorbid conditions, but the validity and feasibility of the tests were not the focus of those reports. [25][26][27][28] Finally, our review of the literature identified no validation studies for the use of HSATs in infants and young children (< 2 years old). These populations present unique challenges to diagnostic testing, and the consequences of misdiagnosing or underdiagnosing are potentially more severe.…”

Section: Use Of Hsats In Children With Comorbidities or Very Young Chmentioning

confidence: 98%

American Academy of Sleep Medicine Position Paper for the Use of a Home Sleep Apnea Test for the Diagnosis of OSA in Children

Kirk

Baughn

DʼAndrea

et al. 2017

Journal of Clinical Sleep Medicine

169

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Home sleep study characteristics in patients with mucopolysaccharidosis

Abstract: Home sleep study is a quick and accessible screening test to determine the abnormalities of breathing during sleep and enables clinicians to take necessary action for patients with severe manifestations.

Cited by 18 publications

References 22 publications

ENT and mucopolysaccharidoses

ENT and mucopolysaccharidoses

Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist

American Academy of Sleep Medicine Position Paper for the Use of a Home Sleep Apnea Test for the Diagnosis of OSA in Children

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