Among the many symptoms observed during the neonatal period, feeding and behavioural deficencies are particularly severe and disabling, creating an urgent need for medical care for patients and placing a heavy burden on families.
The average time to diagnosis in France is 17 days, and this offers a unique opportunity for an early treatment.
PWS patients are born every year worldwide
Source : From Oprhanet
Of infants with PWS present sucking and swallowing deficiencies
Source : Singh, 2018
The first thousand days after birth represent a unique opportunity for an early treatment with major long-term impact
Source : Report on the first 1000 days, French Ministry of Solidarity and Health, 2020
Newborns with Prader-Willi syndrome present sucking and swallowing deficiencies in 99% of cases (Singh, 2018) associated with a lack of appetite and severe hypotonia. To prevent undernutrition, which can be life-threatening for those infants, 84% of them need to be fed by nasogastric tube (Bar, 2017). .
Complications related to these symptoms can be severe: recurrent respiratory infections, pulmonary aspiration (Salehi, 2017).
Thus, the first weeks of life of a baby with Prader-Willi syndrome are particularly challenging for patients and their families. The period of feeding with nasogastric tube, followed by long months during which it is very difficult to feed the child, is very distressing for parents and can significantly impact the parenting process.
In newborns with Prader-Willi syndrome, there is little or no demonstration of hunger or eagerness at feeding time (Miller, 2011). Infants are not very expressive and struggle to create a connection, whether through eye contact, voice or motor skills. They respond very little to stimuli (Tauber, 2017).
These early social skills and attachment disorders can have an impact on the relational, affective and cognitive development of the child, as well as on learning, and can have long-term consequences on the child’s psychological and physical health (Report on the first 1000 days, French Ministry of Solidarity and Health, 2020).