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

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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Transitional care pathway for diabetes at Darent Valley Hospital, Dartford

Endocrine Abstracts ◽

10.1530/endoabs.51.p093 ◽

2017 ◽

Author(s):

Mohamed Khonji ◽

Naveed Khan ◽

Kevin McEwan ◽

Kishani Wijewarden ◽

Alok Gupta

Keyword(s):

Transitional Care ◽

Care Pathway

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Patient Flow or the Patient’s Journey? Exploring Health Care Providers’ Experiences and Understandings of Implementing a Care Pathway to Improve the Quality of Transitional Care for Older People

Qualitative Health Research ◽

10.1177/10497323211003861 ◽

2021 ◽

pp. 104973232110038

Author(s):

Cecilie Fromholt Olsen ◽

Astrid Bergland ◽

Jonas Debesay ◽

Asta Bye ◽

Anne Gudrun Langaas

Keyword(s):

Health Care ◽

Older People ◽

Health Care Providers ◽

Transitional Care ◽

Care Pathway ◽

Patient Flow ◽

Care Pathways ◽

Care Providers ◽

Patient Centered ◽

Care For Older People

Internationally, the implementation of care pathways is a common strategy for making transitional care for older people more effective and patient-centered. Previous research highlights inherent tensions in care pathways, particularly in relation to their patient-centered aspects, which may cause dilemmas for health care providers. Health care providers’ understandings and experiences of this, however, remain unclear. Our aim was to explore health care providers’ experiences and understandings of implementing a care pathway to improve transitional care for older people. We conducted semistructured interviews with 20 health care providers and three key persons, along with participant observations of 22 meetings, in a Norwegian quality improvement collaborative. Through a thematic analysis, we identified an understanding of the care pathway as both patient flow and the patient’s journey and a dilemma between the two, and we discuss how the negotiation of conflicting institutional logics is a central part of care pathway implementation.

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Endocrine Dysfunction in Prader-Willi Syndrome: A Review with Special Reference to GH

Endocrine Reviews ◽

10.1210/edrv.22.6.0447 ◽

2001 ◽

Vol 22 (6) ◽

pp. 787-799 ◽

Cited By ~ 167

Author(s):

Pia Burman ◽

E. Martin Ritzén ◽

Ann Christin Lindgren

Keyword(s):

Replacement Therapy ◽

Lean Body Mass ◽

Body Mass ◽

Genetic Disorder ◽

Hormone Replacement ◽

Hypogonadotropic Hypogonadism ◽

Endocrine Disorders ◽

Prader Willi Syndrome ◽

Gh Treatment ◽

Pituitary Dysfunction

Abstract Prader-Willi syndrome is a genetic disorder occurring in 1 in 10,000–16,000 live-born infants. In the general population, approximately 60 people in every 1,000,000 are affected. The condition is characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. Furthermore, morbidity and mortality are high, probably as a result of gross obesity. Most patients have reduced GH secretory capacity and hypogonadotropic hypogonadism, suggesting hypothalamic-pituitary dysfunction. Replacement of GH and/or sex hormones may therefore be beneficial in Prader-Willi syndrome, and several clinical trials have now evaluated GH replacement therapy in affected children. Results of GH treatment have been encouraging: improved growth, increased lean body mass, and reduced fat mass. There was also some evidence of improvements in respiratory function and physical activity. The long-term benefits of GH treatment are, however, still to be established. Similarly, the role of sex hormone replacement therapy needs to be clarified as few data exist on its efficacy and potential benefits. In summary, Prader-Willi syndrome is a disabling condition associated with GH deficiency and hypogonadism. More active treatment of these endocrine disorders is likely to benefit affected individuals.

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Time for a general approval of growth hormone treatment in adults with Prader–Willi syndrome

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-020-01651-x ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Charlotte Höybye ◽

◽

Anthony J. Holland ◽

Daniel J. Driscoll

Keyword(s):

Growth Hormone ◽

Body Composition ◽

Transition Period ◽

Neurodevelopmental Disorder ◽

Hormone Treatment ◽

Psychomotor Development ◽

Prader Willi Syndrome ◽

Gh Treatment ◽

Beneficial Effects ◽

Positive Effects

AbstractPrader-Willi syndrome (PWS) is a complex, multi-system, neurodevelopmental disorder characterised by neonatal muscular hypotonia, short stature, high risk of obesity, hypogonadism, intellectual disabilities, distinct behavioural/psychiatric problems and abnormal body composition with increased body fat and a deficit of lean body mass. Growth hormone (GH) deficiency and other hormone deficiencies are common due to hypothalamic dysfunction. In children with PWS GH treatment has been widely demonstrated to improve body composition, normalise height and improve psychomotor development. In adults with PWS, GH’s main effects are to maintain normal body structure and metabolism. The positive effects of GH treatment on body composition, physical fitness and beneficial effects on cardiovascular risk markers, behaviour and quality of life in adults with PWS are also well established from several studies. GH treatment is approved for treatment of children with PWS in many countries, but until recently not as a treatment in young adults in the transition period or for adults in general. In this commentary we want to draw attention to the uneven global use of GH treatment, specifically in adults with PWS, and advocate for GH treatment to be approved internationally, not just for children, but also for adults with PWS and based only on the diagnosis of genetically confirmed PWS.

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Growth Hormone (GH) treatment in adults with Prader-Willi Syndrome (PWS) restores plasma kisspeptin to normal levels

Endocrine Abstracts ◽

10.1530/endoabs.73.aep476 ◽

2021 ◽

Author(s):

Giménez-Palop Olga ◽

Laia Casamitjana ◽

Raquel Corripio ◽

Pareja Rocío ◽

Joan Carles Oliva ◽

...

Keyword(s):

Growth Hormone ◽

Prader Willi Syndrome ◽

Gh Treatment

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Effect of liraglutide 3.0 mg on eating behavior in patients with obesity

Medical Council ◽

10.21518/2079-701x-2021-7-156-164 ◽

2021 ◽

pp. 156-164

Author(s):

O. V. Logvinova ◽

E. A. Troshina

Keyword(s):

Body Weight ◽

Eating Behavior ◽

Lifestyle Modification ◽

Disease Recurrence ◽

Metabolic Parameters ◽

Anthropometric Parameters ◽

Lower Glucose ◽

Initial Severity ◽

To Receive

Introduction. One of the objectives of weight loss in obesity is to prevent metabolic disorders associated with it. An important component in the maintenance of the achieved results is a change of eating behavior.Goal: to study the effect of liraglutide 3.0 mg on the dynamics of metabolic parameters and eating behavior in patients with obesity. Materials and methods. The study enrolled 42 obese patients in whom anthropometric parameters, metabolic parameters, and eating behavior were assessed with Dutch Eating Behavior Questionnaire (DEBQ). Patients were divided into 2 groups, one of which received liraglutide 3.0 mg with lifestyle modification for 3 months. The other group was recommended to receive only lifestyle modification. The participants were re-examined after 3 months.Results and discussion. in the liraglutide group in addition to a significant decrease in body weight, BMI and waist circumference, there was a statistical trend toward lower glucose, insulin and HOMA-IR levels. When comparing the dynamics of parameters between the groups, Д body weight, BMI and glucose in the liraglutide group were significantly superior. In reassessment of eating behavior after 3 months of treatment, no statistically significant differences were found with the initial severity of restrictive, emotional, and/or external types in both groups and, despite a more pronounced decrease in body weight in the liraglutide group, between them.Conclusions: Three months of isolated lifestyle modification and/or its combination with liraglutide 3.0 mg is not sufficient to make a lasting change in eating behavior. However, considering that obesity is a chronic and relapsing disease, the need for eating behavior correction remains relevant to prevent disease recurrence. This substantiates the need for more long-term intervention in obesity, including drug therapy.

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“There’s No Place Like Home”: Creating a Safe, Individualized, Transitional Care Pathway After a Skilled Nursing Facility Stay

The Permanente Journal ◽

10.7812/tpp/18-071-23 ◽

2018 ◽

Author(s):

Yvonne Rice

Keyword(s):

Transitional Care ◽

Care Pathway ◽

Skilled Nursing Facility ◽

Nursing Facility ◽

Skilled Nursing

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Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2018-0539 ◽

2019 ◽

Vol 32 (8) ◽

pp. 879-884 ◽

Cited By ~ 3

Author(s):

Raquel Corripio ◽

Carla Tubau ◽

Laura Calvo ◽

Carme Brun ◽

Núria Capdevila ◽

...

Keyword(s):

Growth Hormone ◽

Prospective Study ◽

Mixed Model ◽

Standard Deviation Score ◽

Uniparental Disomy ◽

Chromosome 15 ◽

Prader Willi Syndrome ◽

Gh Treatment ◽

Maternal Uniparental Disomy ◽

A Prospective Study

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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Longitudinal Association between Growth Hormone Therapy and Obstructive Sleep Apnea in a Child with Prader-Willi Syndrome

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2010-1445 ◽

2011 ◽

Vol 96 (1) ◽

pp. 29-33 ◽

Cited By ~ 18

Author(s):

Gillian M. Nixon ◽

Christine P. Rodda ◽

Margot J. Davey

Keyword(s):

Obstructive Sleep Apnea ◽

Sleep Apnea ◽

Upper Airway ◽

Prader Willi Syndrome ◽

Upper Respiratory Tract ◽

Gh Treatment ◽

Obstructive Sleep ◽

Longitudinal Association ◽

Tract Infections

Context: Descriptions of the development of symptoms of upper airway obstruction and sudden death of children with Prader-Willi Syndrome (PWS) while on GH therapy have led to concern about GH contributing to obstructive sleep apnea (OSA), especially early in treatment. However, two studies using monitoring with polysomnography (PSG) have not shown deterioration in OSA after 6 wk on GH, except as related to upper respiratory tract infections. Objective: The aim was to describe the evolution of OSA in a girl with PWS on GH treatment in order to highlight important aspects of long-term clinical monitoring for patients with PWS on GH treatment. Patient and Research Design: GH was commenced when the patient was 2.9 yr of age. PSG was performed at baseline and 7 wk after commencing GH, plus at intervals throughout treatment based on symptoms of OSA. Intervention: GH was given at doses ranging from 4.2 to 4.7 mg/m2 · wk over a period of 3 yr. Main Outcome Measure: OSA was quantified by PSG. Results: OSA was not present at baseline or after 7 wk on GH but developed after 6 months, following a small increase in GH dose. Cessation of GH was accompanied by resolution of OSA. GH was restarted 2 yr later, again associated with the development of OSA that resolved after cessation of GH. Conclusion: This case highlights that OSA may develop late in GH treatment. Children should be monitored for the symptoms of OSA throughout GH treatment, and PSG should be repeated if symptoms develop.

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