Abstract
Objective: Prader-Willi syndrome (PWS) is a rare genetic syndrome with a wide spectrum of clinical features in early life. Late diagnoses are still present. We characterized the perinatal and neonatal features of PWS, compared them with those of healthy newborns and assessed the prenatal and neonatal differences between the genetic subtypes. Design: A cohort study in children with PWS. The prevalence of variables was compared with healthy infants (PLUTO cohort) and to population statistics from literature. Patients: 244 infants with PWS and 365 healthy infants. Measurements: Data on prenatal and neonatal variables in both cohorts. Population statistics were collected through an extensive literature search. Results: A higher prevalence of maternal age >35 years was found in PWS compared to healthy infants and population statistics, and the highest maternal age was found in the mUPD group. Higher prevalence of polyhydramnios, caesarean section, labour induction and breech presentation, and lower birth weight SDS was found in PWS compared to healthy infants. High prevalences of decreased fetal movements (78.5%), hypotonia (100%), cryptorchism (95.9%) and poor sucking/tube feeding (93.9%) were found in PWS. Conclusions: This study presents an overview of prenatal and neonatal variables in infants with PWS compared to healthy infants. Our findings may increase clinical awareness of the early perinatal signs of PWS by obstetricians, neonatologists and all those involved in infant care, enabling early diagnosis and start of multidisciplinary treatment.
Highlights
Prader-Willi syndrome (PWS) is a rare and complex genetic syndrome characterized by hypotonia, infantile feeding difficulties and, later on, hyperphagia, which will lead to obesity when uncontrolled, combined with many comorbidities such as short stature, typical facial dysmorphism, psychomotor delay, hypogonadism, behavioral abnormalities and cognitive impairment [1,2]
There was no significant difference in sex between the two cohorts or between the genetic subtypes in the PWS study population (Tables 1 and 2)
Characteristics and polyhydramnios in the PWS cohort compared to the PLUTO cohort
Summary
Prader-Willi syndrome (PWS) is a rare and complex genetic syndrome characterized by hypotonia, infantile feeding difficulties and, later on, hyperphagia, which will lead to obesity when uncontrolled, combined with many comorbidities such as short stature, typical facial dysmorphism, psychomotor delay, hypogonadism, behavioral abnormalities and cognitive impairment [1,2]. Despite the availability of advanced genetic testing that makes it possible to diagnose children in the first few months of life, delayed diagnosis of PWS is still reported [6,7]. This might be related to the inadequate knowledge of physicians about PWS clinical features in early life. Multidisciplinary treatment and an early start of rhGH may prevent obesity and its consequences in the future [17] It is, important to increase physician’s awareness of the maternal, perinatal and neonatal features of PWS
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