Supplementary Material for: Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a

<b><i>Background/Aims:</i></b> Pseudohypoparathyroidism type 1a (PHP1a) is a rare genetic disorder. This study aimed to determine the prevalence of sleep apnea in children with PHP1a. <b><i>Methods:</i></b> 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. <b><i>Results:</i></b> 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). <b><i>Conclusions:</i></b> 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

Hypoxic adaptation during development: relation to pattern of neurological presentation and cognitive disability

Children with acute hypoxic-ischaemic events (e.g. stroke) and chronic neurological conditions associated with hypoxia frequently present to paediatric neurologists. Failure to adapt to hypoxia may be a common pathophysiological pathway linking a number of other conditions of childhood with cognitive deficit. There is evidence that congenital cardiac disease, asthma and sleep disordered breathing, for example, are associated with cognitive deficit, but little is known about the mechanism and whether there is any structural change. This review describes what is known about how the brain reacts and adapts to hypoxia, focusing on epilepsy and sickle cell disease (SCD). We prospectively recorded overnight oxyhaemoglobin saturation (SpO 2) in 18 children with intractable epilepsy, six of whom were currently or recently in minor status (MS). Children with MS were more likely to have an abnormal sleep study defined as either mean baseline SpO2 &lt;94 or &gt;4 dips of &gt;4 in SpO2/hour (p = .04). In our series of prospectively followed patients with SCD who subsequently developed acute neurological symptoms and signs, mean overnight SpO2 was lower in those with cerebrovascular disease on magnetic resonance angiography (Mann-Whitney, p = .01). Acute, intermittent and chronic hypoxia may have detrimental effects on the brain, the clinical manifestations perhaps depending on rapidity of presentation and prior exposure.</p