Faculty Opinions recommendation of The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.

Abstract Background There is little evidence of the effects of early treatment with growth hormone (GH) in infants with Prader-Willi syndrome (PWS). A prospective study was conducted to assess the safety of GH therapy in infants younger than 2 years of age with PWS. Methods A total of 14 patients with PWS started treatment with GH under the age of 2 years and were followed over a 2-year period. A deletion of chromosome 15 was present in nine infants (64.3%) and maternal uniparental disomy 15 in five infants (35.7%). The median age at start of GH treatment was 9.6 months (interquartile range [IQR] 9.0–18.3 months). Changes in height standard deviation score (SDS), body mass index (BMI) SDS and subcapsular and tricipital skinfolds in the follow-up period were evaluated with a mixed-model regression analysis using the Package R. Results There were no fatal adverse events. A significant decrease (p < 0.001) in tricipital and subcapsular skinfold thickness, with an upward trend of height SDS and a downward trend of BMI SDS, was observed. Infants who started GH before 15 months of age started walking at a median of 18.0 [17.0–19.5] months vs. 36.6 [36.3–37.8] months for those who began treatment with GH after 15 months of age (p = 0.024). Conclusions GH treatment in infants with PWS less than 2 years of age is safe and improved body composition. Infants who received GH before the age of 15 months started to walk earlier.

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Sleep-Related Breathing Disorders in Young Adults With Prader-Willi Syndrome: A Placebo-Controlled, Crossover GH Trial

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2019-00391 ◽

2019 ◽

Vol 104 (9) ◽

pp. 3931-3938

Author(s):

Stephany H Donze ◽

Al W de Weerd ◽

Renilde A S van den Bossche ◽

Koen F M Joosten ◽

Anita C S Hokken-Koelega

Keyword(s):

Young Adults ◽

Adult Height ◽

Uniparental Disomy ◽

Apnea Hypopnea Index ◽

Prader Willi Syndrome ◽

Double Blind ◽

Sleep Related Breathing Disorders ◽

Maternal Uniparental Disomy ◽

Breathing Disorders ◽

Obstructive Sleep

Abstract Context Sleep-related breathing disorders (SRBD) are common in people with Prader-Willi syndrome (PWS). Young adults with PWS benefit from GH continuation after attaining adult height by maintaining the improved body composition obtained during childhood. There are, no studies about the effects of GH on SRBD in young adults with PWS who were treated with GH during childhood. Objective Investigate the effects of GH vs placebo on SRBD in young adults with PWS who were treated with GH during childhood and had attained adult height. Design Two-year, randomized, double-blind, placebo-controlled, crossover study in 27 young adults with PWS, stratified for sex and body mass index. Setting Dutch PWS Reference Center. Intervention Crossover intervention with GH (0.67 mg/m2/d) and placebo, both over one year. Main Outcome Measures Apnea hypopnea index (AHI), obstructive apnea index (OAI), central apnea index (CAI), measured by polysomnography. Results Compared with placebo, GH did not increase AHI, CAI, or OAI (P > 0.35). The effect of GH vs placebo was neither different between men and women, nor between patients with a deletion or maternal uniparental disomy/imprinting center defect. After two years, there was no difference in AHI, CAI, or OAI compared with baseline (P > 0.18). Two patients (7%) fulfilled the criteria of obstructive sleep apnea regardless of GH or placebo. Conclusions GH compared with placebo does not cause a substantial increase in AHI, CAI, or OAI in adults with PWS who were treated with GH during childhood and have attained adult height. Our findings are reassuring and prove that GH can be administered safely.

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Molecular and Clinical Studies of Polish Patients with Prader-Willi Syndrome

Acta geneticae medicae et gemellologiae twin research ◽

10.1017/s0001566000001446 ◽

1996 ◽

Vol 45 (1-2) ◽

pp. 273-276

Author(s):

A. Szpecht-Potocka ◽

E. Obersztyn ◽

M. Karwacki ◽

E. Bocian ◽

J. Bal ◽

...

Keyword(s):

Pattern Analysis ◽

Clinical Symptoms ◽

Uniparental Disomy ◽

Methylation Pattern ◽

Microsatellite Analysis ◽

Prader Willi Syndrome ◽

Methylation Analysis ◽

Molecular Defects ◽

Parent Of Origin ◽

Cytogenetic Methods

AbstractA group of 30 patients clinically described as having the Prader-Willi Syndrome (PWS) were studied using microsatellites from 15q11-13 and methylation analysis with probe PW71B (D15S63). The patients were categorized according to clinical symptoms. 80% of all patients were informative using molecular and cytogenetic methods. Among 8 patients with an atypical PWS phenotype, 2 showed uniparental disomy, and 2 had a mosaic deletion for 15q. The last 4 atypical and 2 typical patients had neither molecular defects confirmed by microsatellite analysis nor a parent-of-origin-specific methylation pattern for PWS. Our results confirm that methylation pattern analysis provides an additional and alternative microsatellite analysis to diagnose PWS.

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