Dados do Trabalho

Título

EXCESSIVE SLEEPINESS IN PATIENTS WITH PRADER-WILLI SYNDROME, BEYOND THE QUESTIONNAIRE

Introdução

Prader-Willi syndrome (PWS) is a rare neuroendocrine disorder characterized by hypotonia, delays in neuropsychomotor development, behavioral changes, and severe eating disorders that progress to hyperphagia and obesity. The metabolic aspect is well established and receives necessary attention. However, sleep disorders are still neglected, contributing to worsened behavioral, cognitive, and quality of life outcomes in children with PWS. Both central and obstructive sleep apnea are the most recognized conditions, yet other sleep disorders including excessive daytime sleepiness (EDS) and hypersomnia, are increasingly gaining attention.

Objetivo

The aim of this article is to conduct a clinical and polysomnographic analysis of patients with PWS who score high on specific questions related to Excessive Daytime Sleepiness (EDS) on the Sleep Disturbance Scale for Children (SDSC).

Método

The SDSC scale was applied to 53 children with PWS. Children who scored "almost always" or "always" on the question regarding reporting feelings of daytime sleepiness were clinically and polysomnographically analyzed.

Resultados

20.7% of the children analyzed reported daytime sleepiness. Of these, 45.45% presented genetic alteration of the deletion type; the same percentage with uniparental disomy, and a lower percentage (9.1%) with imprinting mutation. Clinical analysis revealed a median age at the time of polysomnography of 14 years [8.5-19] and a Body Mass Index (BMI) above the 98th percentile, with a median value of 35.5 [29-42.3]. Polysomnographic variables showed a moderate Apnea-Hypopnea Index (AHI) of 5.7 [3-9.35], predominantly obstructive events, low minimum saturation with a median of 80% [73.5-88], and time spent with saturation below 90% (T90) with a median of 5.3% [0.25-12.05]. Analysis of sleep architecture did not show relevant alterations, except for Wake After Sleep Onset (WASO) with a median of 66.5 minutes [44.25-83.45].

Conclusão

This data reaffirms the significant association of sleep disorders in PWS patients, indicating that such disorders may extend beyond obstructive sleep apnea. Investigation into hypersomnolence proved particularly intriguing, especially in the group of children with elevated BMI and moderate apnea without signs of hypoventilation but with notable drops in saturation. Therefore, examining excessive daytime sleepiness should extend beyond the neuroendocrine framework and cover a respiratory analysis.

Referências

study on sleep disturbances associated with Prader-Willi syndrome. J Pediatr Endocrinol Metab JPEM. 26 de março de 2020;33(3):397–401.
2. Brito LC, Queiroga T, Franco RR, Passone CGB, Lopes MC, Shea SA, et al. Cardiac autonomic control during non-REM and REM sleep stages in paediatric patients with Prader-Willi syndrome. J Sleep Res. junho de 2021;30(3):e13165.
3. Duis J, Pullen LC, Picone M, Friedman N, Hawkins S, Sannar E, et al. Diagnosis and management of sleep disorders in Prader-Willi syndrome. J Clin Sleep Med JCSM Off Publ Am Acad Sleep Med. 1o de junho de 2022;18(6):1687–96.

Palavras Chave

Prader-Willi syndrome; sleep-disordered breathing; excessive daytime sleepiness