Year: 2025
Type: article
Study design: Observational Study
Abstract: Background Joubert Syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder, characterised by hypotonia, developmental delay, and a “molar tooth sign” on MRI brain. Sleep disordered breathing (SDB) is common, although referral for polysomnography (PSG) is variable. The aim of this study was to collate overnight PSG results from a series of patients with JS, and monitor the pattern of SDB over time. Methods A retrospective analysis of children with JS in a tertiary paediatric hospital from 2010-2025. Progess to date Twenty-one children (16 males) with confirmed JS were identified during the study period. Fourteen had PSGs, at a median age of 4 years (1mo – 10 years), while 11 had repeat PSGs at a median age of 5 years. Genetic sequencing has been performed in 18. Initial and repeat PSGs have been analysed. The mean initial AHI was 9.4 events/hr, compared to 7.2 events/hr in the repeat. The mean OAHI in initial studies was 5.4 events/hr compared to 2.2 events/hr in repeat studies. Six children received treatment between studies, including adenotonsillectomy, non-invasive ventilation, or a combination of both. Objective improvement was seen in 7 children, while 3 had stable but persisting SDB. SDB worsened in 1 child. Intended outcome and impact Children with JS show a range of SDB, ranging from normal PSGs, to those showing severe OSA requiring varying levels of intervention. Patients with JS would benefit from serial PSGs during childhood, although not all are referred for sleep assessment. More awareness is required to ensure these children get adequate monitoring.
Source: SLEEP Advances
Authors: E Le Fevre, K Waters, C Pandit
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,054
OpenAlex ID: W4414779934
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