Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life

Çizmecioğlu, Filiz Mine; Jones, Jeremy; Paterson, W. F.; Kherra, Sakina; Kourime, Mariam; McGowan, Ruth; Shaikh, M Guftar; Donaldson, Malcolm

doi:10.4274/jcrpe.0029

Cited by 20 publications

(22 citation statements)

References 27 publications

(56 reference statements)

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“…The prevalance of preterm birth, SGA and LBW in our cohort was 17.3%, 40.3% and 42.3%, respectively, which was in concordance with the increased incidence of preterm birth, LBW and intrauterine growth retardation reported in PWS ( 26 , 27 , 28 ).…”

Section: Discussionsupporting

confidence: 89%

Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome

Çakır¹,

Baş²,

Akın³

et al. 2021

Jcrpe

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Objective: To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey. Methods: The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection. Demographic, clinical, genetic, and laboratory data and follow-up information of the patients were evaluated. Results: The median age of patients at presentation was 1.5 years, and 50% were females. Genetic analysis showed microdeletion in 69.2%, uniparental disomy in 11.5%, imprinting defect in 1.9% and methylation abnormality in 17.3%. Hypotonia (55.7%), feeding difficulties (36.5%) and obesity (30.7%) were the most common complaints. Cryptorchidism and micropenis were present in 69.2% and 15.3% of males, respectively. At presentation, 25% had short stature, 44.2% were obese, 9.6% were overweight and 17.3% were underweight. Median age of obese patients was significantly higher than underweight patients. Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at normal age of puberty. GH treatment was started in 40% at a mean age of 4.7±2.7 years. After two years of GH treatment, a significant increase in height SDS was observed. However, body mass index (BMI) standard deviation (SDS) remained unchanged. Conclusion: The most frequent complaints were hypotonia and feeding difficulty at first presentation. Obesity was the initial finding in 44.2%. GH treatment was started in less than half of the patients. While GH treatment significantly increased height SDS, BMI SDS remained unchanged, possibly due to the relatively older age at GH start.

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Section: Discussionsupporting

confidence: 89%

Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome

Çakır¹,

Baş²,

Akın³

et al. 2021

Jcrpe

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“…Intrauterine hypotonia causes polyhydramnios, malpresentation, and reduced fetal movements, leading to a higher probability of cesarean. All these features were found in this study, in accord with other reports ( 12 ).…”

Section: Discussionsupporting

confidence: 94%

“…It was reported that the full-term infants accounted for 80.4% of all 102 PWS patients. However, other studies have reported on the prevalence of preterm births and small for GA newborns ( 12 ). The discrepancies may be explained by the differences in sample size and ethnic differences.…”

Section: Discussionmentioning

confidence: 96%

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Case Report: Clinical Analysis of Seven Neonates With Prader-Willi Syndrome and Review of the Literature

Xue

2021

Front. Pediatr.

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Objective: The clinical symptoms of neonatal Prader-Willi syndrome (PWS) are not typical and are easy to miss. The aim of the study was to investigate the clinical features and genetic characteristics of seven cases of neonatal PWS from northern China, and to improve the understanding of PWS in neonates.Methods: We retrospectively analyzed seven infants diagnosed by methylation specific multiplex ligation probe amplification technology (MS-MLPA) in the Neonatology Unit of Shengjing Hospital of China Medical University from September 2016 to July 2020.Results: All seven cases involved full term or nearly full-term infants born to mothers without a history of abnormal pregnancy or delivery. Difficulty in feeding occurred immediately after birth in infants with decreased hypotonia. Five patients had characteristic craniofacial morphology, such as a prominent forehead, narrow face, almond-shaped eyes, small mouth, and downturned mouth. Further, three of the seven infants had patent ductus arteriosus (PDA). In addition, three neonates had hyperammonemia, hypoglycemia, and idiopathic edema, respectively. PWS could be effectively diagnosed and genotyped by MS-MLPA.Conclusion: Neonates with PWS have hypotonia and feeding difficulty. Characteristic facial features and genital hypoplasia are common in neonatal PWS. Infants with PWS may be predisposed to PDA, hypoglycemia, hyperammonemia, and edema.

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“…In the present study, we showed that the majority of children (83%) experienced early feeding issues. In keeping with existing data in PWS, 68% required NG feeding 4,33 . Specialised formula and thickened fluids were necessary and delays in achieving feeding milestones were reported in this group.…”

Section: Discussionsupporting

confidence: 65%

Dietary intake and growth in children with Prader–Willi syndrome

Meade

Martin

McCrann

et al. 2021

J Human Nutrition Diet

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Background The management of Prader–Willi Syndrome (PWS) requires strict dietary supervision to prevent obesity, avoid micronutrient deficiencies and ensure optimal growth. The present study aimed to examine the growth and dietary intake of children with PWS. Methods All children with genetically confirmed PWS attending Children's Health Ireland (CHI) at Tallaght (n = 44) were invited to participate. Anthropometry was performed and body composition measured using bioelectrical impedance analysis. Three‐day food diaries were used to evaluate dietary intake and the presence of early feeding issues was assessed. Serum haemoglobin, ferritin and vitamin D levels were measured. Results Nineteen children participated, with a mean (range) age of 7.6 (0.6–18.1) years. Most were female (n = 14, 74%). Twenty‐percent (n = 3) were underweight, 60% (n = 9) were healthy weight, n = 1 was overweight and n = 2 were obese. Mean (range) percentage body fat was 25.7% (10%–40%). Eigthy‐three percent reported early feeding issues. Ninety‐four percent (n = 16) achieved ≤ 100% of estimated average requirement (EAR) for energy. Mean daily energy intake for ≤ 5 years old was 722 kcal (9 kcal cm–1/72–112% EAR); for those ≥ 12 years, it was 1203 kcal (8.3 kcal cm–1/41%–82% EAR). Suboptimal calcium, vitamin D, iron, zinc and fibre intake was evident. Iron deficiency anaemia and vitamin D insufficiency occurred in two children. Conclusions The present study provides the first Irish data for PWS and shows that energy intake does not appear to be excessive, with four in five patients being underweight or of a normal BMI. Suboptimal dietary intake of several micronutrients was evident and biochemical nutrient deficiencies were present.

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Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life

Cited by 20 publications

References 27 publications

Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome

Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome

Case Report: Clinical Analysis of Seven Neonates With Prader-Willi Syndrome and Review of the Literature

Dietary intake and growth in children with Prader–Willi syndrome

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