Sleep Disorders in Children with Prader Willi Syndrome: Current Perspectives

Ingram, David G.; Arganbright, Jill M.; Paprocki, Emily; Halpin, Kelsee

doi:10.2147/nss.s361518

Cited by 4 publications

(14 citation statements)

References 75 publications

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“…However, CSA, sleep-related hypoventilation, excessive daytime sleepiness, and altered sleep architecture are also described in high proportion in this population compared to that in healthy controls [ 3 , 12 ]. Brainstem immaturity, hypothalamic dysfunction, and abnormal chemosensitivity to CO 2 and O 2 are other contributing mechanisms to CSA in PWS infants [ 76 ]. In 2014, Cohen et al reviewed polysomnographic data of 44 PWS children (23 subjects with median age of 1.0 years and 21 subjects with median age of 5.1 years) and diagnosed sleep apnea in 25/44 (57%) subjects.…”

Section: Children With Complex Disordersmentioning

confidence: 99%

Pediatric Sleep Respiratory Disorders: A Narrative Review of Epidemiology and Risk Factors

Piotto,

Gambadauro,

Rocchi

et al. 2023

Children

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Sleep is a fundamental biological necessity, the lack of which has severe repercussions on the mental and physical well-being in individuals of all ages. The phrase “sleep-disordered breathing (SDB)” indicates a wide array of conditions characterized by snoring and/or respiratory distress due to increased upper airway resistance and pharyngeal collapsibility; these range from primary snoring to obstructive sleep apnea (OSA) and occur in all age groups. In the general pediatric population, the prevalence of OSA varies between 2% and 5%, but in some particular clinical conditions, it can be much higher. While adenotonsillar hypertrophy (“classic phenotype”) is the main cause of OSA in preschool age (3–5 years), obesity (“adult phenotype”) is the most common cause in adolescence. There is also a “congenital–structural” phenotype that is characterized by a high prevalence of OSA, appearing from the earliest ages of life, supported by morpho-structural abnormalities or craniofacial changes and associated with genetic syndromes such as Pierre Robin syndrome, Prader-Willi, achondroplasia, and Down syndrome. Neuromuscular disorders and lysosomal storage disorders are also frequently accompanied by a high prevalence of OSA in all life ages. Early recognition and proper treatment are crucial to avoid major neuro-cognitive, cardiovascular, and metabolic morbidities.

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Section: Children With Complex Disordersmentioning

confidence: 99%

Pediatric Sleep Respiratory Disorders: A Narrative Review of Epidemiology and Risk Factors

Piotto,

Gambadauro,

Rocchi

et al. 2023

Children

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“…Sleep-related breathing disorders (SDBs) are common and potentially serious complications of PWS that can afect patients at any age. Multiple studies have reported a high prevalence of SDB among individuals with PWS ranging between 44 and 100%, compared to a prevalence of 2-3% in the general population [1][2][3]. Craniofacial dysmorphology afecting upper airway size, adenotonsillar hypertrophy, obesity, hypotonia, chest wall deformities, and defective ventilatory control due to hypothalamic dysfunction contribute to the overall high prevalence of SDB in PWS [1,2].…”

Section: Introductionmentioning

confidence: 99%

“…Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by the absence of the expression of the paternally inherited genes in chromosome 15 q11-13 region [1]. Te estimated prevalence of PWS is one in 10,000-25,000 live births [2].…”

Section: Introductionmentioning

confidence: 99%

“…Patients develop hyperphagia from childhood and onward due to hypothalamic dysfunction and consequent morbid obesity. Other manifestations include hypogonadism, psychomotor delay, hypothyroidism, and short stature [1,2].…”

Section: Introductionmentioning

confidence: 99%

“…Te spectrum of sleep-related disorders seen in PWS includes central sleep apnea (CSA), alveolar hypoventilation, and obstructive sleep apnea (OSA), with OSA being the most dominant form [1,4]. Other patterns of SDB include altered sleep architecture, excessive daytime sleepiness, and abnormal ventilatory response to hypercapnia and hypoxia [4].…”

Section: Introductionmentioning

confidence: 99%

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Prevalence of Sleep-Disordered Breathing in Prader–Willi Syndrome

Abushahin,

Al-Naimi,

Abu-Hasan

et al. 2023

Canadian Respiratory Journal

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Introduction. Sleep-disordered breathing (SDB) is common in patients with Prader–Willi Syndrome (PWS). However, the prevalence of SDB varies widely between studies. Early identification of SDB and factors contributing to its incidence is essential, particularly when considering growth hormone (GH) therapy. Objectives. The aims of the study were to describe the prevalence and phenotypes of sleep-disordered breathing (SDB) in patients with Prader–Willi syndrome (PWS) and to determine the effects of age, gender, symptoms, GH therapy and body mass index on SDB severity. Methods. This study was a retrospective chart review of all patients with genetically confirmed Prader–Willi syndrome who underwent diagnostic overnight polysomnography (PSG) in the sleep laboratory at Sidra Medicine. Clinical and PSG data of enrolled patients were collected. Results. We identified 20 patients (nine males, eleven females) with PWS who had overnight sleep polysomnography (PSG) at a median age (IQR) of 5.83 (2.7–12) years. The median apnea-hypopnea index (AHI) was 8.55 (IQR 5.8–16.9) events/hour. The median REM-AHI was 27.8 (IQR 15–50.6) events/hour. The median obstructive apnea-hypopnea index (OAHI) was 7.29 (IQR 1.8–13.5) events/hour. The median central apnea-hypopnea index (CAHI) was 1.77 (IQR 0.6–4.1) events/hour. Nineteen patients (95%) demonstrated SDB by polysomnography (PSG) based on AHI ≥1.5 events/hour. Nine patients (45%) were diagnosed with obstructive sleep apnea (OSA). Three patients (15%) were diagnosed with central sleep apnea (CSA). Seven patients (35%) were diagnosed with mixed sleep apnea. No correlations were observed between AHI and age, gender, BMI, symptoms, or GH therapy. However, REM-AHI was significantly correlated with BMI ( P = 0.031 ). Conclusion. This study shows a high prevalence of SDB among our patients with PWS. Obstructive sleep apnea was the predominant phenotype. BMI was the only predictor for high REM-AHI. Further studies of large cohorts are warranted to define SDB in PWS and design the appropriate treatment.

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