Obstructive Sleep Apnea Syndrome in Children with 22q11.2 Deletion Syndrome after Operative Intervention for Velopharyngeal Insufficiency

Abstract

Introduction: Surgical treatment of velopharyngeal insufficiency (VPI) in 22q11.2 deletion syndrome is often warranted. In this patient population, VPI is characterized by poor palatal elevation and muscular hypotonia with an intact palate. We hypothesize that 22q11.2 deletion patients are at greater risk of obstructive sleep apnea (OSA) after surgical correction of VPI, due, in part, to their functional hypotonia, large velopharyngeal gap size, and the need to surgically obstruct the velopharynx.Methods: We performed a retrospective analysis of patients with 22q11.2 deletion syndrome treated at a tertiary pediatric hospital between the years of 2002 and 2012. The incidence of VPI, need for surgery, post-operative polysomnogram, post-operative VPI assessment, and OSA treatments were evaluated.Results: Forty-three patients (18 males, 25 females, ages 1–14 years) fitting the inclusion criteria were identified. Twenty-eight patients were evaluated by speech pathology due to hypernasality. Twenty-one patients had insufficient velopharyngeal function and required surgery. Fifteen underwent pharyngeal flap surgery, three underwent sphincter pharyngoplasty, two underwent Furlow palatoplasty, and one underwent combined sphincter pharyngoplasty with Furlow palatoplasty. Of these, eight had post-operative snoring. Six of these underwent polysomnography (five underwent pharyngeal flap surgeries and one underwent sphincter pharyngoplasty). Four patients were found to have OSA based on the results of the polysomnography (average apnea/hypopnea index of 4.9 events/h, median = 5.1, SD = 2.1). Two required continuous positive airway pressure (CPAP) due to moderate OSA.Conclusion: Surgery is often necessary to correct VPI in patients with 22q11.2 deletion syndrome. Monitoring for OSA should be considered after surgical correction of VPI due to a high occurrence in this population. Furthermore, families should be counseled of the risk of OSA after surgery and the potential need for treatment with CPAP.

Sleep patterns and problems among children with 22q11 deletion syndrome

“…Other than obstructive sleep apnea, clinical sleep problems have historically not been readily highlighted or systematically investigated for this population. There have been several papers reporting on the increased risk specifically of OSA in persons with 22q11DS compared to nonsyndromic children; often these studies are referencing obstructive sleep concerns in relation to surgical correction of a cleft palate or velopharyngeal insufficiency (Crockett et al, ; Heike et al, ; Kennedy et al, ; Silvestre et al, ). While awareness has been growing around the increased risk of OSA in these persons, the existence, understanding, and impact of other sleep problems in children with 22q11DS has not previously been fully addressed.…”

“…Despite extensive research into the more common clinical presentations associated with 22q11DS, little is known about the specific sleep characteristics in this unique population. Previous studies have documented an increased risk of obstructive sleep apnea (OSA) in this population (Crockett, Goudy, Chinnadurai, & Wootten, ; Heike et al, ; Kennedy et al, ; Silvestre, Tahiri, Paliga, & Taylor, ). Beyond OSA, one prior study reported a greater prevalence of sleep problems in females with 22q11DS compared to males (Briegel, Schneider, & Schwab, ), and there is a case report of continuous spikes and waves during sleep (Valvo et al, ).…”

Epilepsy and seizures in young people with 22q11.2 deletion syndrome: Prevalence and links with other neurodevelopmental disorders

“…Epilepsy also associates with a higher rate of developmental delay, but not with psychiatric disorder . The relationships of epilepsy with specific psychiatric diagnoses (eg, ADHD) and other salient manifestations of 22q11.2DS, such as sleep disturbance and motor coordination problems, have not been explored.…”

Hard to swallow: Developmental biological insights into pediatric dysphagia

“…These defects result in the diagnostic “velo-pharyngeal insufficiency” that characterizes the syndrome [73]. Velo-pharyngeal insufficiency complicates feeding and swallowing by allowing aspiration from the mouth into the nasal sinuses [13, 16]; it is also associated with sleep apnea [74, 75], as well as speech and language difficulties including hyper-nasality at later stages due to altered airflow during articulation [76–78]. It remains uncertain, however, whether this phenotype, a likely a critical contributor to dysphagia in 22q11DS infants and children, reflects oropharyngeal structure, or altered palatal control due to hypotonia.…”