Abstract
Adenotonsillar tissue hypertrophy and obstructive sleep apnea have been reported during short-term GH treatment in children with Prader-Willi syndrome (PWS). We conducted an observational study to evaluate the effects of long-term GH therapy on sleep-disordered breathing and adenotonsillar hypertrophy in children with PWS. This was a longitudinal observational study. We evaluated 75 children with genetically confirmed PWS, of whom 50 fulfilled the criteria and were admitted to our study. The patients were evaluated before treatment (t0), after 6 weeks (t1), after 6 months (t2), after 12 months (t3), and yearly (t4-t6) thereafter, for up to 4 years of GH therapy. The central apnea index, obstructive apnea hypopnea index (OAHI), respiratory disturbance index, and minimal blood oxygen saturation were evaluated overnight using polysomnography. We evaluated the adenotonsillar size using a flexible fiberoptic endoscope. The percentage of patients with an OAHI of >1 increased from 3 to 22, 36, and 38 at t1, t4, and t6, respectively (χ(2) = 12.2; P < .05). We observed a decrease in the respiratory disturbance index from 1.4 (t0) to 0.8 (t3) (P < .05) and the central apnea index from 1.2 (t0) to 0.1 (t4) (P < .0001). We had to temporarily suspend treatment for 3 patients at t1, t4, and t5 because of severe obstructive sleep apnea. The percentage of patients with severe adenotonsillar hypertrophy was significantly higher at t4 and t5 than at t0. The OAHI directly correlated with the adenoid size (adjusted for age) (P < .01) but not with the tonsil size and IGF-1 levels. Long-term GH treatment in patients with PWS is safe; however, we recommend annual polysomnography and adenotonsillar evaluation.
Highlights
Obstructive sleep apneas (OSAs) may depend on airway narrowing because of excessive fat and on airway collapse caused by pharyngeal wall hypotonia and adenoid/tonsil hypertrophy [7]
Hypopituitarism due to hypothalamic dysfunction is well established in Prader-Willi syndrome (PWS); GH replacement treatment has been reported to be successful in promoting growth and improving muscular trophism and tone, with a consequent improvement in strength, agility, physical activity, and cardiorespiratory function (9 –11)
In the last 7 years there have been no reported deaths in patients with PWS at the start of GH treatment, 2 reports have demonstrated that sleep-disordered breathing may occasionally occur in patients with PWS on long-term GH therapy [24, 25]
Summary
We evaluated 75 children with genetically confirmed PWS, of whom 50 fulfilled the criteria and were admitted to our study. The patients were evaluated before treatment (time 0 [t0]), after 6 weeks (t1), after 6 months (t2), after 12 months (t3), and yearly (t4 –t6) thereafter, for up to 4 years of GH therapy. As recommended by the Consensus Guidelines for GH therapy in PWS [26], 25 patients who were markedly obese and/or had severe OSAs did not start GH therapy and were excluded from the study. We obtained informed written consent from the patients’ parents at t0
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