Respiratory Complications in Children with Prader Willi Syndrome

Requirements for improving health and well‐being of children with Prader‐Willi syndrome and their families

“…Hyperphagia may also be associated with inadequate chewing and eating unusual foods and non‐food items, contributing to a greater risk of choking and respiratory aspiration . Poor oromotor co‐ordination and gag reflexes, hypotonia and difficulties producing an adequate cough to expel excess secretions or airway foreign bodies could further explain these increased risks . Recent videofluoroscopy swallow studies suggest aspiration is common and often silent in infants with PWS .…”

“…Craniofacial abnormalities (Fig. ) and a small naso‐ and oro‐pharynx are common in affected individuals, resulting in a relatively narrow upper airway . The presence of obesity can further increase upper airway resistance and is another well‐known risk factor for obstructive sleep apnoea syndrome .…”

“…Obstructive sleep apnoea is found in almost 80% of children with PWS, and those with moderate to severe obstructive sleep apnoea exhibit more hypoventilation and more severe desaturation during sleep than typically developing children with a similar severity of obstructive sleep apnoea . This may partly result from decreased respiratory reserve and increased work of breathing in PWS children related to altered ventilatory responses to hypoxia and hypercapnia or comorbidities of obesity and scoliosis . Consequently, children with obstructive sleep apnoea related to PWS may be at greater risk of developing obesity hypoventilation syndrome than other individuals with a similar level of obesity.…”

“…Central sleep apnoea is also frequently reported in PWS, particularly in children younger than 2 years of age . Contributors to central sleep apnoea include respiratory muscle hypotonia, abnormal arousal and ventilatory control mechanisms and may also be a downstream effect of hypothalamic dysfunction related to hypocretin deficiencies . The presence of excessive daytime sleepiness in individuals with PWS in the context of adequate quality and quantity of sleep, even in the absence of or sufficient treatment for sleep disordered breathing and hypothyroidism, suggests hypersomnolence is related to hypothalamic dysfunction, particularly hypocretin (also known as orexin) deficiencies, causing a narcolepsy phenotype with or without cataplexy …”

Obstructive Sleep Apnea and Otolaryngologic Manifestations in Children with Pseudohypoparathyroidism

“…[8, 9] Sudden death has not been reported in PHP1A, but young children with other congenital syndromes and sleep apnea are at increased risk of sudden death from respiratory insufficiency. [22, 23] These cognitive impairments, in addition to the symptoms of sleep apnea such as daytime somnolence, may lead to poor academic performance. In fact, treatment of childhood sleep apnea has been shown to improve behavior, school performance, and quality of life.…”