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Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a
Hannah Landreth1, Beth A Malow, Ashley H Shoemaker
1University of Oklahoma School of Medicine, Norman, Okla., USA.
Insights
Children with pseudohypoparathyroidism type 1a (PHP1a) have a significantly higher risk of sleep apnea. This suggests that screening for sleep apnea in children with PHP1a is important for preventing health issues.
Area of Science:
- Pediatric Endocrinology
- Sleep Medicine
- Genetics
Background:
- Pseudohypoparathyroidism type 1a (PHP1a) is a rare genetic disorder.
- Sleep disturbances and daytime somnolence are frequently reported in children with PHP1a.
Purpose of the Study:
- To determine the prevalence of sleep apnea in children diagnosed with PHP1a.
- To compare the risk of sleep apnea in PHP1a patients to a similarly obese control group.
Main Methods:
- Prospective enrollment of 19 children (ages 2-21) with PHP1a.
- Retrospective chart review of 18 additional PHP1a patients from a large de-identified database.
- Utilized parent-reported sleep behavior surveys and polysomnography records where available.
Main Results:
- Sleep disturbance (94%) and daytime somnolence (81%) were common in PHP1a patients.
- 45% of PHP1a patients had a sleep apnea diagnosis, compared to 8.8% in an obese control group.
- PHP1a patients with sleep apnea were significantly younger (8.1 years) than those without (12.8 years).
Conclusions:
- Children with PHP1a exhibit a 4.4-fold increased relative risk for sleep apnea.
- Routine screening for sleep apnea is recommended in pediatric PHP1a population.
- Early detection and management of sleep apnea can prevent adverse health outcomes in PHP1a patients.
Background/Aims:
Pseudohypoparathyroidism type 1a (PHP1a) is a rare genetic disorder. This study aimed to determine the prevalence of sleep apnea in children with PHP1a.
Methods:
Nineteen patients with PHP1a between the age of 2 and 21 years were enrolled prospectively using online advertisements. Parents completed a medical history and surveys to assess sleep behavior. Polysomnography records were obtained when available. In addition, 18 subjects were identified in a retrospective chart review of de-identified medical records with 2.3 million patient charts.
Results:
Parents reported sleep disturbance (94%) and daytime somnolence (81%) in their children with PHP1a. In the retrospective chart review, 39% had a history of sleep apnea versus 8.8% of a similarly obese control group. In the combined analysis (n = 31), 52% had a history of snoring and 45% had a diagnosis of sleep apnea. Patients were obese with a mean BMI z-score of 2.20 ± 0.59. Patients with sleep apnea were significantly younger than those without a diagnosis (8.1 ± 5.4 vs. 12.8 ± 5.0 years, p = 0.02).
Conclusions:
Children with PHP1a have a 4.4-fold greater relative risk of sleep apnea than similarly obese children. Screening for sleep apnea in this population may be warranted to prevent adverse health outcomes.
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