Anthropometric characteristics of newborns with Prader–Willi syndrome

Abstract

This is a retrospective multicenter nationwide Italian study collecting neonatal anthropometric data of Caucasian subjects with Prader-Willi syndrome (PWS) born from 1988 to 2018. The aim of the study is to provide percentile charts for weight and length of singletons with PWS born between 36 and 42 gestational weeks. We collected the birth weight and birth length of 252 male and 244 female singleton live born infants with both parents of Italian origin and PWS genetically confirmed. Percentile smoothed curves of birth weight and length for gestational age were built through Cole's lambda, mu, sigma method. The data were compared to normal Italian standards. Newborns with PWS showed a lower mean birth weight, by 1/2 kg, and a shorter mean birth length, by 1 cm, than healthy neonates. Females with a 15q11-13 deletion were shorter than those with maternal uniparental maternal disomy of chromosome 15 (p < .0001). The present growth curves may be useful as further traits in supporting a suspicion of PWS in a newborn. Because impaired prenatal growth increases risk of health problems later in life, having neonatal anthropometric standards could be helpful to evaluate possible correlations between the presence or absence of small gestational age and some clinical and metabolic aspects of PWS. K E Y W O R D Sgrowth, newborn, percentiles, Prader-Willi

Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome

“…The higher prevalence of SGA birth in the mUPD group has not been reported earlier, although one study found a tendency towards a lower birth weight SDS in the mUPD group [22]. In an Italian cohort of PWS newborns, no difference in birth weight was found between genotypes, but females with a deletion had a smaller birth length compared to the mUPD subtype [20], but we could not confirm this. Asymmetrical fetal growth in terms of an increased head/abdominal circumference ratio has once been reported in fetuses with PWS [49].…”

“…Although perinatal and neonatal characteristics in PWS have been reported [6,[18][19][20][21][22], the spectrum of clinical features which characterizes PWS in early life is still relatively unclear or inappropriate molecular testing was performed [21]. In addition, a comparison with healthy infants is, to our knowledge, not yet described.…”

Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader–Willi Syndrome

“…Bar et al, in a 2017 analysis of 61 newborns with PWS, reported 67% born by caesarean section, 20% prematurely and 30% newborns small for gestational age, and the data regarding the details within the genetic subtypes were not reported [ 30 ]. Salvatoni et al in 2019 in a large cohort of 252 male and 244 female newborns with PWS confirmed only decreased birth length in females with DEL 15 vs. those with UPD 15 [ 31 ]. In a paper published in 2019, among 102 Chinese children with PWS, the authors observed a higher frequency of premature newborns in group UPD 15, the characteristic that was comparable in our groups of patients with DEL 15 and UPD 15 (22 and 20%).…”

“…Moreover, we still lack full recognition of the influence of specific missing genes on hypothalamus dysfunction and its impact on PWS phenotype [ 2 , 3 , 4 , 28 ]. Studies regarding the relationship between the genotype and newborn phenotype have been conducted, but the results are not explicit [ 29 , 30 , 31 , 32 , 33 ]. There is also little data for anthropometric characteristics before rhGH treatment in relation to the molecular type of diagnosis.…”

Fases nutricionales en Síndrome de Prader-Willi

“…En su trabajo, Miller describe que los individuos con SPW tenían un peso de nacimiento y una edad gestacional significativamente menor a la de sus hermanos (2,8 versus 3,4 kg y 38,2 versus 39,2 semanas, respectivamente). Una cohorte retrospectiva multicéntrica italiana describió en promedio medio kilo menos en el peso de nacimiento de individuos con SPW comparados con sus pares sin el síndrome 22 . Así mismo, otro estudio multicéntrico estadounidense, describió una mayor incidencia de partos por cesárea (54%), 26% de nacimientos prematuros y un 34% de bajo peso de nacimiento 23 .…”