Silent aspiration in infants with Prader–Willi syndrome identified by videofluoroscopic swallow study

Abstract

Feeding intolerance in Prader–Willi syndrome (PWS) infants is well-recognized, but their swallow physiology is not well understood. Swallow dysfunction increases risks of respiratory compromise and choking, which have a high incidence in PWS. To investigate swallow pathology in PWS infants we undertook a retrospective review of videofluoroscopic swallow studies (VFSS) in infants with PWS seen at our institution. We hypothesize that VFSS will characterize swallow pathology suspected by clinical observation during a feeding evaluation and may help determine feeding safety in these infants.Retrospective review of 23 VFSS on 10 PWS infants (average age 9.7 ± 8.4 months; range 3 weeks–29 months). Logistic regression models evaluated associations between gender, genetic subtype, and growth hormone (GH) use on aspiration incidence. Polysomnographic (PSG) studies conducted on the same participant ±1 year from VFSS were examined to characterize respiratory abnormalities.There was a high rate of swallowing dysfunction (pharyngeal residue 71%, aspiration events 87%) and disordered sleep. All aspiration events were silent. There were no differences in rates of aspiration for gender, genetic subtype, or GH use.A high incidence of aspiration was identified indicating swallow dysfunction may frequently be present in infants with PWS. Comprehensive evaluation of feeding and swallowing is essential and requires a multidisciplinary approach. Providers should recognize risk factors for swallow dysfunction and consider a multidisciplinary approach to guide decision making and optimize feeding safety in PWS.

Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center

“…As an immune deficit has not been described in patients with PWS, this susceptibility to respiratory infection seems to be related more to a respiratory muscle hypotonia that reduces cough reflex efficiency [9, 29]. Furthermore, it may be hypothesized that silent aspirations, which particularly affect infants [30], result in a compromise of the pulmonary parenchyma that may increase the risk of respiratory infections. Of note, in 2011 and 2012 when the number of cases of death was the highest, we investigated the possibility of respiratory infection epidemics, but none was reported in France in these years.…”

Prader–willi Syndrome

“…Some studies have indicated that up to 50% of affected individuals may have recurrent respiratory infections, although immunologic abnormalities are not increased in PWS. Silent aspiration is common, par ticularly in infants and young children (Gross et al 2017;Salehi et al 2017). Individuals with PWS have been shown to have a restrictive lung disease, likely as a result of thoracic muscle weakness (Hakonarson et al 1995), and that study also found an obstructive component by spirometry in about one third of affected individuals, most of whom were respon sive to β-agonists.…”

“…Osteopenia and osteoporosis are fre quent. Recent videofluoroscopic studies have shown silent aspiration, residue in the pharynx and esophagus, and, in general, disturbances in timing, clearance, and coordination of swallowing with the respiratory cycle (Gross et al 2017;Salehi et al 2017).…”

“…Eventually, with improving muscle tone and increased arousability comes improved feeding, and a short period (months to a few years) of relatively normal eating behavior usually occurs. Swallowing dysfunction has recently been recognized in many infants with PWS, often with silent aspiration (Salehi et al 2017). Thus, swallow study and professional evaluation may be indicated if there is suggestion of choking or pulmonary disease reflecting possible aspiration, and may be appropriate in all infants with PWS.…”

Proteins and proteases of Prader–Willi syndrome: a comprehensive review and perspectives

“…This summary will help to enhance our knowledge about the cause of pathophysiologies associated with PWS and assist in developing an effective therapeutic strategy for intervention of the disease. For a comprehensive evaluation, understanding and perspectives of the disease which is reflected from neonatal (sometimes even prenatal) period of the baby to adulthood and beyond [14][15][16]. With increasing age and growth of the baby, many complications and abnormalities develop that may include growth retardation, neurological impairment, behavior abnormality, as well as anomalies in physical stature and appearance.…”