Polysomnographic findings in children with 22q deletion & duplication syndrome: relationship to genetic diagnosis, parent-reported symptoms, and calcium levels

• Published in: Sleep & breathing 2024-03, Vol.28 (1), p.489-494
• Main Authors: Ingram, David G., Tracy, Meghan, Noel-MacDonnell, Janelle, Ghulmiyyah, Jana M., Arganbright, Jill M.
• Format: Article
• Language: English
• Subjects: Apnea; Calcium; Calcium (blood); Child; Children; Dentistry; Diagnosis; DiGeorge Syndrome - diagnosis; DiGeorge Syndrome - genetics; Ferritin; Ferritins; Genetic screening; Humans; Internal Medicine; Medicine; Medicine & Public Health; Neurology; Otorhinolaryngology; Parents; Pediatrics; Pediatrics • Original Article; Pneumology/Respiratory System; Polysomnography - methods; Retrospective Studies; Sleep apnea; Sleep Apnea Syndromes; Sleep Apnea, Obstructive - diagnosis; Sleep Apnea, Obstructive - genetics; Sleep disorders
• ISSN: 1520-9512; 1522-1709
• DOI: 10.1007/s11325-023-02897-y

Purpose 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome. In the current study, we assessed the relationship between parent-reported symptoms of obstructive sleep apnea (OSA) and polysomnographic (PSG) results in patients with 22q11.2DS. Additionally, we explored the relationships between genetic diagnosis, serum calcium and ferritin levels, and PSG results. Methods Retrospective chart review was completed for patients enrolled in our 22q Center’s registry from 2015–2021. Data extracted included: patient characteristics, parent-reported sleep symptoms from the Childhood Sleep Habits Questionnaire (CSHQ), serum calcium and ferritin levels, and results from formal PSG. Results Overall, n  = 89 encounters (60 unique patients) with PSG data demonstrated that there were no differences in OSA between those with deletion vs duplication, but PLMD was more common in those with deletion (35% vs 7%, p  = 0.032). In a subset of n  = 24 encounters with PSG and survey data in proximity, there were no significant associations between the CSHQ sleep-disordered breathing subscale and OSA presence or severity ( p  = 0.842). Likewise, we found no significant associations between the individual symptoms of OSA and PSG results (all p  > 0.5). In those patients with available calcium ( n  = 44) and ferritin ( n  = 17) levels, we found a significant negative correlation between serum calcium and PLMS ( r  = -0.446, p  = 0.002), but not ferritin ( r  = -0.067, p  = 0.797) levels. Conclusions Parent-reported symptoms do not predict the presence or severity of OSA in children with 22q11.2DS. There was a negative correlation between serum calcium, but not ferritin, and PLMS on PSG.