Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a

Landreth, Hannah; Malow, Beth A.

doi:10.1159/000381452

Cited by 14 publications

(17 citation statements)

References 20 publications

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“…With both disorders, there is a high prevalence of recurrent otitis media requiring typanostomy tubes, an increased rate of hearing loss, and a high risk of sleep apnea. [7, 19, 21] These clinical features were evident in our PHP1A sample and may indicate craniofacial abnormalities in children with PHP1A similar to those documented in Down syndrome. [21] These possible anatomical abnormalities, combined with generalized hypotonia, may lead to the increased rates of sleep apnea seen in individuals with PHP1A, though further research regarding the hypotonic and craniofacial phenotype in this population is needed.…”

Section: Discussionsupporting

confidence: 52%

“…[7, 18, 19] In adults, asthma has been associated with the development of OSA. [20] In this study, asthma was more prevalent in the PHP1A group than in the control group and may account for the increased risk of OSA in this population.…”

Section: Discussionmentioning

confidence: 99%

“…[5, 6] Our previous work has shown that children with PHP1A may be at an even greater risk for obstructive sleep apnea (OSA) than similarly obese children but this study was limited to a retrospective review of medical records. [7] Despite the recent evidence of clinical overlap between PHP1A and PHP1B, it is not known if individuals with PHP1B have an increased risk of OSA.…”

Section: Introductionmentioning

confidence: 99%

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Obstructive Sleep Apnea and Otolaryngologic Manifestations in Children with Pseudohypoparathyroidism

et al. 2018

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Background/Aims: Pseudohypoparathyroidism (PHP) is a rare, genetic disorder. Patients with PHP may have increased prevalence of obstructive sleep apnea (OSA) but this has not been prospectively studied. Methods: We enrolled children aged 6–18 years with PHP and matched controls. Evaluation included physical examination, medical history, and polysomnography. Results: Fifteen children with PHP type 1A (PHP1A) and 15 controls completed the study. Both groups were obese (BMI 32.2 ± 8.7 vs. 31.7± 6.5). The majority of PHP1A patients required tympanostomy tubes (86.7%) and adenotonsillectomy (73.3%). The primary outcome, i.e., the obstructive disturbance index, was significantly higher in PHP1A children versus controls (1.8 ± 2.3 vs. 0.6 ± 0.5, p = 0.045). Children with PHP1A were more likely to have OSA compared with controls (60.0 vs. 13.3%, p = 0.008). Three siblings with PHP type 1B (PHP1B) were also studied (BMI 25.9 ± 9.0). None had a history of adenotonsillectomy, one had tympanostomy tubes. The obstructive disturbance index (2.0 ± 2.3) was similar to that of children with PHP1A. Two (66.7%) PHP1B participants had OSA. Conclusion: Children with PHP1A are at an increased risk for OSA compared with similarly obese peers. They also have higher rates of otitis media and adenotonsillar hypertrophy. Screening for OSA should be considered in all patients with PHP1A and possibly PHP1B though more research is needed.

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Section: Discussionsupporting

confidence: 52%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Obstructive Sleep Apnea and Otolaryngologic Manifestations in Children with Pseudohypoparathyroidism

et al. 2018

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“…A lower prevalence of 3.4 per million inhabitants was reported in Japan (2). In the United States, we encountered one PHP1A patient per 125,000 patients in a single tertiary medical center, though this likely overestimates the true prevalence due to a referral bias (3). …”

Section: Introductionmentioning

confidence: 98%

Nonclassic features of pseudohypoparathyroidism type 1A

Jüppner¹

2017

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

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Purpose of review To provide readers with a review of contemporary literature describing the evolving understanding of the pseudohypoparathyroidism type 1A (PHP1A) phenotype. Recent findings The classic features of PHP1A include multi-hormone resistance and the Albright Hereditary Osteodystrophy phenotype (round facies, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity. Obesity may be due to a decrease in resting energy expenditure since most patients do not report significant hyperphagia. Patients with PHP1A have an increased risk of type 2 diabetes. In addition to brachydactyly and short stature, orthopedic complications can include spinal stenosis and carpal tunnel syndrome. Hearing loss, both sensorineural and conductive, has been reported in PHP1A. Additionally, ear-nose-throat findings include decreased olfaction and frequent otitis media requiring tympanostomy tubes. Sleep apnea was shown to be 4.4-fold more common in children with PHP1A compared with other obese children; furthermore, asthma-like symptoms have been reported. These new findings are likely multifactorial and further research is needed to better understand these non-classic features of PHP1A. Summary Along with the Albright Hereditary Osteodystrophy phenotype and hormone resistance, patients with PHP1A may have additional skeletal, metabolic, ear-nose-throat and pulmonary complications. Understanding these non-classic features will help improve clinical care of PHP1A patients.

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“…Sleep disturbances with daytime somnolence have been reported in a series of patients with PHP1A 230 and were more frequent (4.4-fold higher relative risk) than in participants without PHP1A who had similar levels of obesity 230,231 . Irrespective of the underlying mechanism, untreated sleep apnoea is associated with poor memory and concentration, increased risk of heart disease and impaired glucose metabolism 232 .…”

Section: Obesity and Other Metabolic Issuesmentioning

confidence: 90%

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

Mantovani¹,

Lecumberri²,

Baştepe³

et al. 2018

EJEA

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Pseu do hy popar ath yroi dism (PHP) and related disorders are associated with a spectrum of abnormal physical characteristics as well as neurocognitive and endocrine abnormalities that are caused primarily by molecular defects that impair hormonal signalling via receptors that are coupled, through the α-subunit of the stimulatory G protein (G s α), to activation of adenylyl cyclase (Fig. 1). 6,7,20,48 * Abstract | This Consensus Statement covers recommendations for the diagnosis and management of patients with pseu do hy popar ath yroi dism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency , hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders.

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Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a

Cited by 14 publications

References 20 publications

Obstructive Sleep Apnea and Otolaryngologic Manifestations in Children with Pseudohypoparathyroidism

Obstructive Sleep Apnea and Otolaryngologic Manifestations in Children with Pseudohypoparathyroidism

Nonclassic features of pseudohypoparathyroidism type 1A

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

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