Eight Years of Growth Hormone Treatment in Children With Prader-Willi Syndrome: Maintaining the Positive Effects

Bakker, Nienke; Kuppens, Renske; Siemensma, Elbrich P. C.; Wijngaarden, Roderick F. A. Tummers-de Lind van; Festen, Dederieke; Heus, G. C. B. Bindels-de; Bocca, Gianni; Haring, D. A. J. P.; Hoorweg-Nijman, J. J. G.; Houdijk, E. C. A. M.; Jira, Petr; Lunshof, L.; Odink, Roelof J.; Oostdijk, Wilma; Rotteveel, Joost; Schroor, Eelco J.; Alfen, A. A. E. M. Van; Leeuwen, van; Pinxteren-Nagler, Evelyn van; Wieringen, Hester van; Vreuls, R. C. F. M.; Zwaveling-Soonawala, Nitash; Ridder, Maria A. J. de; Hokken-Koelega, Anita

doi:10.1210/jc.2013-2012

Cited by 123 publications

(127 citation statements)

References 38 publications

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“…The sum of 4 SFs, which represents subcutaneous fat, returned rapidly to normal SDS values during GH treatment, which underlines the above theory. Long-term GH treatment, in combination with a strict diet and exercise programs, has a continued beneficial effect on LBM [6] and is recommended in the PWS consensus guidelines [40]. …”

Section: Discussionmentioning

confidence: 99%

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Dietary Energy Intake, Body Composition and Resting Energy Expenditure in Prepubertal Children with Prader-Willi Syndrome before and during Growth Hormone Treatment: A Randomized Controlled Trial

Bakker¹,

Siemensma²,

Koopman³

et al. 2015

Horm Res Paediatr

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Background/Aims: Dietary management is a difficult but key aspect of care in children with Prader-Willi syndrome (PWS). We therefore investigated the effect of growth hormone (GH) treatment on reported energy intake in children with PWS, in relation with body composition, resting energy expenditure (REE) and hormone levels. Methods: In a randomized controlled GH trial including 47 children with PWS, we assessed 5-day dietary records and dual-energy X-ray absorptiometry for body composition. REE was calculated by Müller's equation, based on fat mass, fat free mass and gender. Results: Baseline energy intake of children with PWS was lower than normal daily energy requirements (p < 0.001), and decreased with age to 50% in prepubertal children. Energy intake in infants [m/f: 11/8; median (interquartile range [IQR]) age 2.7 years (1.5-3.2)] increased after 1 year of GH treatment (p = 0.008); this tended to be higher in the GH group than in the untreated group (p = 0.07). In prepubertal children [m/f: 14/14; median (IQR) age 6.8 years (5.1-8.1)], the increase in energy intake was higher in the GH group, but this was not different compared to the untreated group. REE was not different between the GH group and the untreated group. Increase in energy intake during 2 years of GH treatment was correlated with lower fat percentage standard deviation scores (p = 0.037) and higher adiponectin levels (p = 0.007). Conclusion: Our study demonstrates that parents of children with PWS are very well capable of restricting energy intake up to 50% compared to daily energy requirements for age- and sex-matched healthy children. GH treatment was associated with a slight increase in energy intake, but also improved body composition and adiponectin levels, which suggests a protective effect of GH treatment.

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Section: Discussionmentioning

confidence: 99%

“…In the presence of a reduced metabolic rate and decreased physical activity, this obsessive behaviour towards food consumption often leads to morbid obesity in children with PWS [5]. However, due to early genetic testing, dietary counselling and growth hormone (GH) treatment, obesity has become less common in children with PWS [6]. …”

Section: Introductionmentioning

confidence: 99%

Dietary Energy Intake, Body Composition and Resting Energy Expenditure in Prepubertal Children with Prader-Willi Syndrome before and during Growth Hormone Treatment: A Randomized Controlled Trial

Bakker¹,

Siemensma²,

Koopman³

et al. 2015

Horm Res Paediatr

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show abstract

“…The treatment should commence in early infancy when the genetic diagnosis of PWS is confirmed. Patients with PWS respond well to growth hormone treatment, with increased height, decreased fat mass, and improved physical activity and muscle strength [Myers et al, 2007;Goldstone et al, 2008;Lin et al, 2008;Carrel et al, 2010;Bakker et al, 2013].…”

Section: Discussionmentioning

confidence: 99%

Disease‐specific growth charts for Korean infants with Prader–Willi syndrome

Lee

Isojima

Chang

et al. 2014

American J of Med Genetics Pt A

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Patients with Prader-Willi syndrome (PWS) present with short stature and obesity. The growth pattern of children with PWS is different from that of the healthy population. Therefore, it is not appropriate to use normal growth charts to evaluate the growth status of children with PWS. We aimed to develop disease-specific growth charts for height and weight for nongrowth hormone-treated Korean infants with PWS aged between 0 and 36 months and to use these growth charts for the evaluation and management of infants with PWS. We conducted a retrospective review of the medical records of 122 infants with genetically confirmed PWS. Data on the patients' height and weight measurements before they underwent growth hormone treatment were recorded. Disease-specific growth charts were generated and the 3rd, 10th, 25th, 50th, 75th, 90th, and 97th centiles were calculated using the LMS (refers to λ, μ, and σ, respectively) smoothing procedure for height and weight. The disease-specific growth charts for Korean infants with PWS can be used when examining infants with PWS and when evaluating their growth at later stages for comparison purposes. They are also useful for monitoring growth patterns, nutritional assessments, and recording responses to growth hormone treatment.

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“…It is now thought that deletion of the paternal copies of the imprinted genes SNRPN, NDN, and possibly others within the chromosome region 15q11q13, are responsible for the phenotype (226). GH secretion can be low and GH treatment has positive effects on linear growth and body composition (227).…”

Section: Imprinting Disorders and Uniparental Disomymentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Wit

Oostdijk

Losekoot

et al. 2016

European Journal of Endocrinology

153

132

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The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFkB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T 3 /T 4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. Heterozygous NPR2 or SHOX defects may be found in w3% of short children, and also rasopathies (e.g., Noonan syndrome) can be found in children without clear syndromic appearance. Numerous other syndromes associated with short stature are caused by genetic defects in fundamental cellular processes, chromosomal abnormalities, CNVs, and imprinting disorders.

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Eight Years of Growth Hormone Treatment in Children With Prader-Willi Syndrome: Maintaining the Positive Effects

Abstract: This 8-year study demonstrates that GH treatment is a potent force for counteracting the clinical course of obesity in children with PWS.

Cited by 123 publications

References 38 publications

Dietary Energy Intake, Body Composition and Resting Energy Expenditure in Prepubertal Children with Prader-Willi Syndrome before and during Growth Hormone Treatment: A Randomized Controlled Trial

Dietary Energy Intake, Body Composition and Resting Energy Expenditure in Prepubertal Children with Prader-Willi Syndrome before and during Growth Hormone Treatment: A Randomized Controlled Trial

Disease‐specific growth charts for Korean infants with Prader–Willi syndrome

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

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