Impact of transitional care on endocrine and anthropometric parameters in Prader–Willi syndrome

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Abstract

Context

The transition of patients with Prader–Willi syndrome (PWS) to adult life for medical care is challenging because of multiple comorbidities, including hormone deficiencies, obesity and cognitive and behavioral disabilities.

Objective

To assess endocrine management, and metabolic and anthropometric parameters of PWS adults who received ( n = 31) or not ( n = 64) transitional care, defined as specialized pediatric care followed by a structured care pathway to a multidisciplinary adult team.

Patients and study design

Hormonal and metabolic parameters were retrospectively recorded in 95 adults with PWS (mean ± s.d. age 24.7 ± 8.2 years, BMI: 39.8 ± 12.1 kg/m²) referred to our Reference Center and compared according to transition.

Results

Among the entire cohort, 35.8% received growth hormone (GH) during childhood and 16.8% had a GH stimulation test after completion of growth. In adulthood, 14.7% were treated with GH, 56.8% received sex-hormone therapy, whereas 91.1% were hypogonadic and 37.9% had undergone valid screening of the corticotropic axis. The main reason for suboptimal endocrine management was marked behavioral disorders. Patients receiving transitional care were more likely to have had a GH stimulation test and hormonal substitutions in childhood. They also had a lower BMI, percentage of fat mass, improved metabolic parameters and fewer antidepressant treatments. Transitional care remained significantly associated with these parameters in multivariate analysis when adjusted on GH treatment.

Conclusion

A coordinated care pathway with specialized pediatric care and transition to a multidisciplinary adult team accustomed to managing complex disability including psychiatric troubles are associated with a better health status in adults with PWS.

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Most cited references 28

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The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.

M Aygün, Brittany S. Cassidy, Rachel S. Schwartz … (2001)

Prader-Willi syndrome (PWS) is a complex, multisystem disorder. Its major clinical features include neonatal hypotonia, developmental delay, short stature, behavioral abnormalities, childhood-onset obesity, hypothalamic hypogonadism, and characteristic appearance. The genetic basis of PWS is also complex. It is caused by absence of expression of the paternally active genes in the PWS critical region on 15q11-q13. In approximately 70% of cases this is the result of deletion of this region from the paternal chromosome 15. In approximately 28%, it is attributable to maternal uniparental disomy (UPD; inheritance of 2 copies of a chromosome from the mother and no copies from the father, as opposed to the normal 1 copy from each parent) of chromosome 15, and in 97% of the patients. Feeding problems in infancy, excessive weight gain after 1 year, hypogonadism, and hyperphagia were all present in 93% or more of patients. Sensitivities of the minor criteria ranged form 37% (sleep disturbance and apneas) to 93% (speech and articulation defects). Interestingly, the sensitivities of 8 of the minor criteria were higher than the sensitivity of characteristic facial features, which is a major criterion. Fifteen out of 90 patients with molecular diagnosis did not meet the clinical diagnostic criteria retrospectively. When definitive diagnostic testing is not available, as was the case for PWS when the 1993 criteria were developed, diagnostic criteria are important to avoid overdiagnosis and to ensure that diagnostic test development is performed on appropriate samples. When diagnostic testing is available, as is now the case for PWS, diagnostic criteria should serve to raise diagnostic suspicion, ensure that all appropriate people are tested, and avoid the expense of testing unnecessarily. Our results indicate that the sensitivities of most of the published criteria are acceptable. However, 16.7% of patients with molecular diagnosis did not meet the 1993 clinical diagnostic criteria retrospectively, suggesting that the published criteria may be too exclusive. A less strict scoring system may ensure that all appropriate people are tested. Accordingly, we suggest revised clinical criteria to help identify the appropriate patients for DNA testing for PWS. The suggested age groupings are based on characteristic phases of the natural history of PWS. Some of the features (eg, neonatal hypotonia, feeding problems in infancy) serve to diagnose the syndrome in the first few years of life, whereas others (eg, excessive eating) are useful during early childhood. Similarly, hypogonadism is most useful during and after adolescence. Some of the features like neonatal hypotonia and infantile feeding problems are less likely to be missed, whereas others such as characteristic facial features and hypogonadism (especially in prepubertal females) may require more careful and/or expert examination. The issue of who should have diagnostic testing is distinct from the determination of features among confirmed patients. Based on the sensitivities of the published criteria and our experience, we suggest testing all newborns/infants with otherwise unexplained hypotonia with poor suck. For children between 2 and 6 years of age, we consider hypotonia with history of poor suck associated with global developmental delay sufficient criteria to prompt testing. Between 6 and 12 years of age, we suggest testing those with hypotonia (or history of hypotonia with poor suck), global developmental delay, and excessive eating with central obesity (if uncontrolled). At the ages of 13 years and above, we recommend testing patients with cognitive impairment, excessive eating with central obesity (if uncontrolled), and hypogonadotropic hypogonadism and/or typical behavior problems (including temper tantrums and obsessive-compulsive features). Thus, we propose a lower threshold to prompt diagnostic DNA testing, leading to a higher likelihood of diagnosis of this disorder in which anticipatory guidance and intervention can significantly influence outcome.

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Consensus statement on the management of the GH-treated adolescent in the transition to adult care.

P E Clayton, R C Cuneo, A Juul … (2005)

The European Society for Paediatric Endocrinology held a consensus workshop in Manchester, UK in December 2003 to discuss issues relating to the care of GH-treated patients in the transition from paediatric to adult life. Clinicians experienced in the care of paediatric and adult patients on GH treatment, from a wide range of countries, as well as medical representatives from the pharmaceutical manufacturers of GH participated.

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Endocrine Disorders in Children with Prader-Willi Syndrome – Data from 142 Children of the French Database

G. Diène, E Mimoun, E Feigerlova … (2010)

Aim: The first results from the French National Prader-Willi pediatric database in a cohort of 142 children aged 0.2–18.8 years are reported. This database gathers information about the endocrine dysfunctions traditionally described in Prader-Willi patients. Methods: Questionnaires were filled in by the patients’ practitioners. The coordination team of the reference center performed the statistical analysis. Results: Median BMI Z-score was +1.3 for a median age of 7.1 years, and 40% of the population were overweight or obese (International Obesity Task Force 2000 criteria). Growth hormone deficiency was present in 80% of patients and 86.7% were treated, with a height gain of +1 SD and a BMI reduction of –0.8 Z-score achieved in the first year of treatment. Hypogonadism was present in 49% of patients, and hypothyroidism in 24.4%. Glucose intolerance was found in 4% of patients, but no diabetes mellitus was detected in the 74 patients explored. Conclusion: Our report gives an overview of endocrine dysfunctions recorded in a large registry database of French children and adolescents with Prader-Willi syndrome. The database, which now encompasses six southern regions of France, will be further extended to the whole country and to adult patients.

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Author and article information

Journal

Journal ID (nlm-ta): Endocr Connect

Journal ID (iso-abbrev): Endocr Connect

Journal ID (hwp): EC

Title: Endocrine Connections

Publisher: Bioscientifica Ltd (Bristol )

ISSN (Electronic): 2049-3614

Publication date Collection: May 2018

Publication date (Electronic): 17 April 2018

Volume: 7

Issue: 5

Pages: 663-672

Affiliations

[1 ]Nutrition Department Assistance-Publique Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière Hospital, French Reference Center for Prader-Willi Syndrome, Sorbonne Université, Paris, France

[2 ]Nutrition and Gastroenterology Department Assistance-Publique Hôpitaux de Paris (AP-HP), Armand Trousseau Children’s Hospital, Paris, France

[3 ]Pediatric Endocrinology Diabetology and Gynecology Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Necker Enfants Malades Hospital University Hospital, Paris, France

[4 ]Pediatric Endocrinology Department Children’s Hospital, French Reference Center for Prader-Willi Syndrome, Toulouse, France

[5 ]INSERM UMRS 1166, Nutriomic Group 6, Paris, France

[6 ]Sorbonne Université UMRS1166, Paris, France

Author notes

Correspondence should be addressed to A C Paepegaey: anne-cecile.paepegaey@ 123456aphp.fr

Article

Publisher ID: EC180089

DOI: 10.1530/EC-18-0089

PMC ID: 5952243

PubMed ID: 29666169

SO-VID: 984d4883-3f3c-45ba-b70c-4f41faa94c32

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This work is licensed under a Creative Commons Attribution 4.0 International License.

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Impact of transitional care on endocrine and anthropometric parameters in Prader–Willi syndrome

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Abstract

Context

Objective

Patients and study design

Results

Conclusion

Related collections

Bioscientifica Open Endocrinology

Most cited references 28

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.

Consensus statement on the management of the GH-treated adolescent in the transition to adult care.

Endocrine Disorders in Children with Prader-Willi Syndrome – Data from 142 Children of the French Database

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