Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome

Singh, Preeti; Mahmoud, Ranim; Gold, June‐Anne; Miller, Jennifer; Roof, Elizabeth; Tamura, Roy; Dykens, Elisabeth M.; Butler, Merlin G.; Driscoll, Dan J; Kimonis, Virginia

doi:10.1136/jmedgenet-2017-105118

Cited by 30 publications

(43 citation statements)

References 23 publications

(20 reference statements)

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“…Our cohort had a high rate of polyhydramnios (42.5%), decreased fetal movements (87.9%), cesarean section (82.8%), low birth weight (32.8%), feeding difficulty (99.3%), hypotonia (98.5%), and failure to thrive (94.5%). The results were similar with movements, low birth weight, feeding difficulty, hypotonia, and low Apgar scores in two cohorts of PWS patients in USA [13,14].…”

Section: Discussionsupporting

confidence: 78%

“…Further study for the mechanism of amniotic fluid disorder is required. Moreover, cesarean section rate was the highest in our cohort comparing with normal populations [7] and other cohorts [5, [11][12][13][14]. The high caesarean section rate in this cohort was due to high rate of obstetric complications in PWS including abnormal amnion (61.2%), decreased fetal movements (87.9%), premature rupture of membranes (9.7%), or abnormal fetal heart rate/rhythm [21][22][23] although the data of fetal heart rate did not record in our study.…”

Section: Discussionmentioning

confidence: 62%

“…However, the rate of hospitalization at neonatal period and feeding tube used was higher in the deletion group than that in the UPD group with marginal differences (P=0.06 and P=0.11, respectively). We also compared our study with other large cohorts including two from France, one from UK and two from the United States (Table 3) [5, [11][12][13][14]. Great similarities were found among these cohorts.…”

Section: Resultsmentioning

confidence: 97%

“…PWS can now be diagnosed at a very early age or even at prenatal period benefiting from the improved molecular diagnosis techniques and increased awareness of PWS features [5, [14][15][16]. 7 Dobrescu et al and Gold et al reported that most patients still had a late diagnosis because the early signs of PWS not recognized, inappropriate molecular tests used, lacking of expertise in some hospitals and institutions [17,18].…”

Section: Discussionmentioning

confidence: 99%

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Perinatal features of Prader-Willi syndrome: a Chinese cohort

Yang

Zhou

et al. 2019

Preprint

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Background: Prader-Willi syndrome (PWS) is a rare complex genetic disorder caused by an absence of expression of imprinted genes on the paternally derived chromosome 15q11-q13 region.This study aimed to characterize the perinatal features in a cohort of Chinese individuals with PWS.Methods: We analyzed anonymous data of 134 patients from the PWS Registry in China. Perinatal and neonatal presentations were analyzed, and compared between the two PWS genetic subtypes.We also compared the perinatal features of PWS patients with the general population and other previous reported large cohorts from France, UK and USA.Results: This study included 134 patients with PWS (115 patients with 15q11-q13 deletion and 19 with maternal UPD). High mean maternal age was found in this cohort (30.5 vs. 26.7) comparing with the general population. 88.6% of mothers reported a decrease of fetal movements. 42.5% and 18.7% of mothers had polyhydramnios and oligohydramnios during pregnancy, respectively. 82.8% of the patients were born by caesarean section. 32.1% of neonates had birth asphyxia, 98.5% had hypotonia and 97.8% had weak cry or even no cry at neonatal period. Feeding difficulty existed in 99.3% of the infants, and 94.8% of them had failure to thrive. 69.4% of the infants ever used feeding tube during hospitalization. However, 97.8% of them discontinued tube feeding after discharged home. Maternal age, maternal pre-pregnancy weight and BMI were significantly higher in the UPD group (all P<0.05).Conclusions: PWS should be highlighted for differential diagnosis for infants with following perinatal factors including polyhydramnios, intrauterine decreased fetal movements, cesarean section, low birth weight, feeding difficulty, hypotonia, and failure to thrive. Higher maternal age may be a risk factor for PWS, especially for UPD, and further studies for the mechanism of PWS are required.

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Section: Discussionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 62%

Section: Resultsmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

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Perinatal features of Prader-Willi syndrome: a Chinese cohort

Yang

Zhou

et al. 2019

Preprint

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“…Infants with PWS have hypotonia and feeding difficulties that usually require support of enteral nutrition . Because we did not have detailed growth and weight gain data during infancy, we could not interpret the relationships between obestatin and adropin and failure to thrive.…”

Section: Discussionmentioning

confidence: 97%

Obestatin and adropin in Prader‐Willi syndrome and nonsyndromic obesity: Associations with weight, BMI‐z, and HOMA‐IR

et al. 2018

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Summary The roles of obestatin and adropin in paediatric obesity are poorly understood. We compared obestatin and adropin concentrations in younger (n = 21) and older children (n = 14) with Prader‐Willi syndrome (PWS) and age and BMI‐z‐matched controls (n = 31). Fasting plasma obestatin and adropin were higher in younger children with PWS than controls; adropin was also higher in older children with PWS. Growth hormone treatment had no effects on obestatin or adropin in PWS. The ratio of ghrelin to obestatin declined from early to late childhood but was higher in older PWS than older controls. Adropin correlated with fasting glucose in the PWS group only. Changes in the ratio of ghrelin to obestatin may suggest changes in the processing of preproghrelin to ghrelin and obestatin during development and differential processing of preproghrelin in PWS.

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Feeding tube use and complications in Prader‐Willi syndrome: Data from the Global Prader‐Willi Syndrome Registry

Roy,

Rafferty,

Trejo

et al. 2024

American J of Med Genetics Pt A

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Guidance on indications for, and types of, feeding tubes recommended in Prader‐Willi syndrome (PWS) is needed. A Global PWS Registry survey was developed to investigate nasogastric (NG) and gastrostomy (G) tube use and associated complications. Of 346 participants, 242 (69.9%) had NG‐tubes, 17 (4.9%) had G‐tubes, and 87 (25.1%) had both NG‐ and G‐tubes. Primary indication for placement was “feeding difficulties and/or poor weight gain” for both NG‐ (90.2%) and G‐tubes (71.2%), while “aspiration/breathing difficulties” was the procedural indication for 6.4% of NG‐tubes and 23.1% of G‐tubes. NG‐tubes were generally removed by age 6 months (NG Only: 82.9%; NG/G: 98.8%), while G‐tubes were often removed by age 2 years (G Only: 85.7%; NG/G: 70.5%). The severe complication rate from G‐tubes was 31.7% and from NG‐tubes was 1.2%. Overall, caregivers indicated the presence of an NG‐ or G‐tube had a positive effect on quality of life. Feeding difficulties in PWS are largely managed by NG‐tube alone. The severe complication rate from G‐tubes was about 25 times higher than from NG‐tubes; yet, G‐tube placement rates have generally increased. G‐tube placement puts individuals with PWS at risk for anesthesia and surgery‐related complications and should be considered judiciously by a multidisciplinary team.

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Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome

Abstract: We found a higher rate of perinatal complications in PWS syndrome compared with the general population. No significant differences in the genetic subtypes were noted except for a higher maternal age and pre-pregnancy weight in the UPD subgroup.

Cited by 30 publications

References 23 publications

Perinatal features of Prader-Willi syndrome: a Chinese cohort

Perinatal features of Prader-Willi syndrome: a Chinese cohort

Obestatin and adropin in Prader‐Willi syndrome and nonsyndromic obesity: Associations with weight, BMI‐z, and HOMA‐IR

Feeding tube use and complications in Prader‐Willi syndrome: Data from the Global Prader‐Willi Syndrome Registry

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