Details

Autor(en) / Beteiligte

• Giabicani, Éloïse
• Boulé, Michèle
• Aubertin, Guillaume
• Galliani, Eva
• Brioude, Frédéric
• Dubern, Béatrice
• Netchine, Irène

Titel

Sleep disordered breathing in Silver−Russell syndrome patients: a new outcome

Ist Teil von

• Sleep medicine, 2019-12, Vol.64, p.23-29

Ort / Verlag

Netherlands: Elsevier B.V

Erscheinungsjahr

2019

Quelle

Access via ScienceDirect (Elsevier)

Beschreibungen/Notizen

• Imprinting disorders (ID), such as Prader–Willi syndrome (PWS), are associated with sleep-disordered breathing (SDB). No data are available for Silver−Russell syndrome (SRS), another ID that shares clinical features with PWS, although many patients describe excessive daytime sleepiness, disturbed sleep, and snoring. The aim of this study was to characterize sleep in children with SRS and to evaluate the impact of recombinant growth hormone (rGH) therapy. We performed a retrospective analysis of sleep recordings in 40 patients with molecularly proven SRS (methylation anomaly in 11p15 [n = 32] or maternal uniparental disomy of chromosome 7 [n = 16]). Sleep recordings were either by means of polygraphy or polysomnography (PSG) (n = 16). A total of 34 patients received rGH therapy. We collected 61 sleep recordings. The mean apnea−hypopnea index (AHI) was 3.4 events/h (0–12.4), with a mean central AHI of 0.5 events/h (0–2.4). SDB was identified in 73.8% (n = 45) of the recordings and was severe in 4.9%. SDB was present in 86.4% of patients before rGH therapy and was severe in 13.6%. AHI worsened for 5 of 12 patients with sleep recordings before and after rGH therapy initiation, reaching mild impairment. The mean rGH dose was 32.3 μg/kg/(12.9–51.4), with a mean insulin-like growth factor 1 plasma level of 1.7 SDS (−1.9 to 6.6). Most patients with SRS present with SDB with an obstructive profile, possibly explained by narrowing of the airways and lymphoid organ hypertrophy. We recommend systematic ear−nose−throat evaluation of SRS patients and PSG if there are clinical anomalies, preferably before initiating rGH therapy, to monitor and adapt the management of patients with SDB. •Children with Silver−Russell syndrome may experience obstructive sleep apnea symptoms.•We found sleep disordered breathing in 73.8% of children with Silver−Russell syndrome.•Apnea−hypopnea index can worsen with recombinant growth hormone therapy initiation.•We recommend ear−nose−throat evaluation and sleep monitoring in these children.