Update on Body Composition and Bone Density in Children with Prader-Willi Syndrome

Rubin, Daniela A.; Sokoloff, Natalia Cano; Castner, Diobel L; Judelson, Daniel A.; Wright, P; Duran, Andrea T.; Haqq, Andrea M.

doi:10.1159/000350525

Cited by 23 publications

(22 citation statements)

References 28 publications

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“…GH treatment has been shown to significantly improve BMD [21]. Sex hormone replacement unexpectedly appears to have no effect on bone mineral density in one study [20], however, Longi et al [22] showed that bone strength was lower in adult PWS patients who were treated with sex steroids but did not receive GH replacement [22].…”

Section: Discussionmentioning

confidence: 99%

Bone Mineral Density in Prader Willi Syndrome: A Search for Genetic Markers

Altarescu¹,

Gross-Tsur²,

Hirsch³

et al. 2017

J Osteopor Phys Act

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decreased BMD and bone mineral content (BMC) in PWS. Recently it has been shown that PW Snord 116 knockout mice show reduced bone formation indicating a possible link between the PW critical region and osteoporosis [10]. Since bone density and mineral content are highly variable among PWS individuals, other factors may contribute to the development of osteopenia and/or osteoporosis. Identifying risk factors for developing osteopenia or osteoporosis may allow early intervention prior to severe bone loss. The purpose of our study was to investigate polymorphisms of candidate genes previously shown to correlate with osteoporosis and/or bone disease and determine if similar associations are present in a PWS population. Materials and MethodsDNA samples were collected from 96 of 103 individuals above the age of 3 years with PWS followed at the Israeli national multidisciplinary PWS clinic at Shaare Zedek Medical Center, Jerusalem, Israel. There were Keywords: Prader-Willi syndrome; Osteoporosis; Osteopenia; Genetic markers of osteoporosis; Bone mineral density; DXA IntroductionPrader-Willi syndrome (PWS) is a complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. The estimated prevalence is 1/10,000-1/30,000 [1]. Infants with PWS suffer from severe hypotonia, feeding difficulties, and failure to thrive (FTT) followed in later infancy or early childhood by excessive appetite with gradual development of obesity, short stature, hypogonadism, intellectual disabilities and behavioral problems [2].There are three main genetic subtypes in PWS: paternal 15q11-q13 deletion in 65-75%, maternal uniparental disomy (UPD) in 20-30% and imprinting center defect in 1-3% of all cases [3,4]. PWS is the most common syndromic cause of life-threatening obesity and the first recognized disorder related to genomic imprinting. Muscle mass is decreased by 25-37%, which might partly explain the hypotonia [5]. Diabetes and scoliosis are common features of PWS [6]. Hypothalamic dysfunction has been implicated in many manifestations of this syndrome including hyperphagia, high pain threshold, sleepdisordered breathing, and multiple endocrine abnormalities including hypogonadism [7,8]. The etiology of hypogonadism in PWS (primary gonadal or hypothalamic) is heterogeneous [5].Increased fat mass and decreased lean body mass are characteristics of PWS. Several studies have demonstrated that individuals with PWS have lower bone mineral density (BMD) compared to normal controls [9]. Hypotonia, hypogonadism, growth hormone deficiency, and limited mineral and vitamin intake due to diet restrictions may contribute to the Abstract Introduction: Prader-Willi syndrome (PWS (is caused by lack of paternally expressed imprinted genes at chromosome 15q11.2-q13. Diminished (BMD) and osteoporosis are common in PWS. The purpose of this study was to determine whether polymorphisms in genes previously shown to correlate with bone mineral density (BMD), might explain the variable expression of abnormal...

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Section: Discussionmentioning

confidence: 99%

Bone Mineral Density in Prader Willi Syndrome: A Search for Genetic Markers

Altarescu¹,

Gross-Tsur²,

Hirsch³

et al. 2017

J Osteopor Phys Act

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“…49 In children, the bone mineral content is also reduced when compared with children with similar BMI. Rubin et al 50 compared the body composition of twelve children (8-11 years) with PWS who were not GH-naïve with that of obese and lean controls. The authors studied BMC, BMD, and the BMD z score for the patient's total body, hips, and lumbar spine.…”

Section: Osteoporosis and Bone Densitymentioning

confidence: 99%

“…The authors found significantly lower BMC and BMD in those with PWS compared to obese controls, but there were no differences between PWS and lean controls. 50 At the moment, there are no protocols for the prevention of osteoporosis in adolescents or adults with PWS, although with the use of rhGH from an early age and the improvement in muscular tone and physical activity, the body composition of these patients may improve not only by reducing the weight gain, but also by increasing their bone mass.…”

Section: Osteoporosis and Bone Densitymentioning

confidence: 99%

Endocrine management of children with Prader–Willi syndrome

Medeiros¹,

Bordallo²,

Souza³

et al. 2013

PHMT

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Prader-Willi syndrome is a rare genetic condition afflicting nearly 1/15,000 live births. Clinical features include neonatal hypotonia, poor weight gain in early infancy followed by binge eating from childhood to adulthood, severe obesity, developmental delay, short stature, and hypogonadism of both central and peripheral etiology. Central hypothyroidism and adrenal insufficiency may occur. Sleep disordered breathing, by obstruction of upper airways associated with central hypoventilation, is a common feature. Most of these characteristics are assumed to be the result of a hypothalamic dysfunction. The most important complication and the most difficult to manage is the obesity. This review aims at discussing the most recent strategies to manage the endocrine complications of Prader-Willi syndrome patients, with a special approach on the treatment of obesity, hypogonadism, and short stature. We summarize the indication and effects of recombinant human growth hormone therapy on growth, cognitive development, and body composition, and discuss the effects of recombinant human growth hormone therapy on the resulting sleep disorders.

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“…If energy intake and expenditure are not tightly regulated, the syndrome can result in morbid obesity. Individuals with PWS exhibit high adiposity and a lower lean mass and daily energy expenditure when compared to equally obese controls [2, 3]. Common endocrine abnormalities include growth hormone (GH) deficiency and hypogonadism [4].…”

Section: Introductionmentioning

confidence: 99%

“…In particular, recommendations have been made for children to engage in muscle- and bone-strengthening exercises at least twice a week [11]. Because of the inherent characteristics of poor lean mass and bone mineral density [3], increased fracture risk [12], and overall low energy metabolism in PWS [2], RE is recommended as part of the exercise regimen for individuals with PWS [7]. Moreover, preliminary studies have demonstrated improvements in muscle strength with exercise in PWS [7].…”

Section: Introductionmentioning

confidence: 99%

Hormonal and Metabolic Responses to a Single Bout of Resistance Exercise in Prader-Willi Syndrome

Rubin¹,

Clark²,

Haqq³

et al. 2017

Horm Res Paediatr

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Background: Prader-Willi syndrome (PWS) is characterized by excessive adiposity. Excess adiposity negatively affects hormonal and metabolic responses to aerobic exercise. This study determined whether PWS and/or adiposity affected hormonal and metabolic responses to resistance exercise. Methods: Eleven children with PWS (11.4 ± 3.1 years, 43.9 ± 7.5% body fat), 12 lean children (9.3 ± 1.4 years, 18.3 ± 4.9% body fat), and 13 obese children (9.6 ± 1.3 years, 40.3 ± 5.2% body fat) participated. The children stepped onto an elevated platform while wearing a weighted vest for 6 sets of 10 repetitions per leg (sets separated by 1 min of rest). For the children with PWS, the platform height was 23.0 cm and vest load was computed as (20% of stature × 50% of lean body mass)/23.0 cm. For the controls, the platform height was 20% of the stature and vest load 50% of the lean body mass. Blood samples were obtained before, immediately after, and during recovery from exercise (+15, +30, and +60 min). Results: All groups had similar catecholamine, insulin, and glucagon responses. The groups showed no major differences in glucose and lactate levels. The PWS children demonstrated earlier increases in fatty acids during recovery and higher glycerol and ketone levels than the controls. Conclusion: The PWS children demonstrated largely intact hormonal, glycolytic, and lipolytic responses to lower-body resistance exercise. In PWS, elevated ketone levels suggest an incomplete fat oxidation.

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Update on Body Composition and Bone Density in Children with Prader-Willi Syndrome

Cited by 23 publications

References 28 publications

Bone Mineral Density in Prader Willi Syndrome: A Search for Genetic Markers

Bone Mineral Density in Prader Willi Syndrome: A Search for Genetic Markers

Endocrine management of children with Prader–Willi syndrome

Hormonal and Metabolic Responses to a Single Bout of Resistance Exercise in Prader-Willi Syndrome

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Update on Body Composition and Bone Density in Children with Prader-Willi Syndrome

Cited by 23 publications

References 28 publications

Bone Mineral Density in Prader Willi Syndrome: A Search for Genetic Markers

Bone Mineral Density in Prader Willi Syndrome: A Search for Genetic Markers

Endocrine management of children with Prader&ndash;Willi syndrome

Hormonal and Metabolic Responses to a Single Bout of Resistance Exercise in Prader-Willi Syndrome

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Product

Resources

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Endocrine management of children with Prader–Willi syndrome