Naslov
Sleep-disordered breathing in children with Prader- Willi syndrome

Autori
Marušić, Ivana ; Gjergja Juraški Romana ; Petković, Giorgie ; Turkalj, Mirjana.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Skup
ISABS conference on Foresic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine

Mjesto i datum
Split, Hrvatska, 24.06.2013. - 28.06.2013

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Prader-Willi syndrome; obstructive sleep apnoea

Sažetak
Introduction: Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of expression of the paternal copy of genes in chromosome region 15q11-13. The genetic subtypes of PWS are deletion (∼70%) and maternal uniparental disomy (mUPD ; 25-30%). Diagnosis was confirmed by methylation test, and genetic subtypes were established using FISH or multiplex ligation-dependent probe amplification and microsatellite analyses. Methods: The sleep unit database was used to analyse all identified cases with PWS (14 patients). Standard overnight polysomnography (PSG) was performed in sleep laboratory. Obstructive sleep apnoea (OSA) was defined by an obstructive apnoea-hypopnoea index, AHI >1/h. Age, symptoms of OSA, tonsillar size and BMI-Z-score were obtained in all cases. Results: Subjects included were 9 months to 11 yrs old. OSA was diagnosed in 11 of 14 (78%) cases, with both obstructive and central apneic events, with mean AHI=7, 0. Those with OSA were significantly older (P < 0.01) and more likely to have enlarged tonsils (P< 0.01) than those without OSA. There was difference in BMI Z-score or the presence of symptoms of OSA, p=0.02. GH was deferred in 5 (36%) pending treatment for OSA Conclusions: OSA was frequently present in children with PWS referred simply to meet the requirement for PSG before starting GH, and indication for operation of enlarged tonsils. We recommend routinely performance of PSG prior to GH therapy, and upper airway surgical intervention. Further studies are necessary to determine optimal treatment for some children with PWS and sleep- disordered breathing.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA