Prader Willi Syndrome

Irizarry, Krystal A.; Miller, Mark D.; Freemark, Michael; Haqq, Andrea M.

doi:10.1016/j.yapd.2016.04.005

Cited by 69 publications

(36 citation statements)

References 142 publications

(184 reference statements)

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“…Although morbid obesity is a strong factor for developing DM in PWS, the relationship between obesity and DM is more complex and appears to differ among PWS and non-PWS individuals. Irizarry et al (11) reviewed recent findings indicating that lower fasting insulin and HOMA-IR levels are observed in adults and adolescents with PWS compared with BMI-matched controls, and additionally, increased insulin sensitivity and elevated levels of adiponectin are recognized in PWS patients. Although the role of β-cell dysfunction in PWS has been considered, it remains to be elucidated.…”

Section: Discussionmentioning

confidence: 99%

Efficacy of sodium-glucose cotransporter 2 inhibitor with glucagon-like peptide-1 receptor agonist for the glycemic control of a patient with Prader-Willi syndrome: a case report

Sano

Kudo

Yamazaki

et al. 2020

Clin Pediatr Endocrinol

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Prader-Willi syndrome (PWS) is often related to severe obesity and diabetes mellitus (DM). Clinical findings suggesting the benefits of glucagon-like peptide-1 (GLP-1) receptor agonists for glycemic control of DM in PWS have been recently increasing. However, there are only a few reports describing the effects of sodium-glucose cotransporter 2 (SGLT2) inhibitors for PWS. We present a diabetic female with PWS, whose glycemic control was deteriorated at the age of 19 but improved to a certain extent by introducing the GLP-1 analog liraglutide. At the age of 20, the SGLT2 inhibitor empagliflozin was administered. Subsequently, her HbA1c level and body weight markedly decreased. Improvement in both insulin resistance and secretion was observed during the subsequent six months. In addition to GLP-1 receptor agonists, SGLT2 inhibitors may be a potential approach for the management of DM in PWS, especially in young patients whose pancreatic insulin secretion capabilities are still preserved.

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Section: Discussionmentioning

confidence: 99%

Efficacy of sodium-glucose cotransporter 2 inhibitor with glucagon-like peptide-1 receptor agonist for the glycemic control of a patient with Prader-Willi syndrome: a case report

Sano

Kudo

Yamazaki

et al. 2020

Clin Pediatr Endocrinol

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“… 50 Due to its orexigenic action, hyperghrelinemia has been suggested as a potential cause of increased appetite and weight gain in PWS. 51 The mechanisms underlying ghrelin dysregulation in this syndrome are currently unknown. It is of note that circulating ghrelin is present in both acylated and unacylated forms.…”

Section: Endocrine Control Of Eating Behavior In Pwsmentioning

confidence: 99%

Obesity management in Prader–Willi syndrome: current perspectives

Crinò¹,

Fintini²,

Bocchini³

et al. 2018

DMSO

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Prader–Willi syndrome (PWS) is a complex multisystem disorder due to the absent expression of the paternally active genes in the PWS critical region on chromosome 15 (15q11.2-q13). The syndrome is considered the most common genetic cause of obesity, occurring in 1:10,000–1:30,000 live births. Its main characteristics include neonatal hypotonia, poor feeding, and lack of appetite in infancy, followed by weight gain, lack of satiety, and uncontrolled appetite, frequently after the age of 2–3 years. The clinical picture includes short stature, multiple endocrine abnormalities (hypogonadism, growth hormone/insulin-like growth factor-I axis dysfunction, hypothyroidism, central adrenal insufficiency), dysmorphic features, scoliosis, osteoporosis, mental retardation, and behavioral and psychiatric problems. Subjects with PWS will become severely obese unless their food intake is strictly controlled. Constant and obsessive food seeking behavior can make life very difficult for both the family and caretakers. Prevention of obesity is mandatory in these patients from the first years of life, because once obesity develops it is difficult to maintain the control of food intake. In fact, PWS subjects die prematurely from complications conventionally related to obesity, including diabetes mellitus, metabolic syndrome, sleep apnea, respiratory insufficiency, and cardiovascular disease. The mechanisms underlying hyperphagia in PWS are not completely known, and to date no drugs have proven their efficacy in controlling appetite. Consequently, dietary restriction, physical activity, and behavior management are fundamental in the prevention and management of obesity in PWS. In spite of all available therapeutic tools, however, successful weight loss and maintenance are hardly accomplished. In this context, clinical trials with new drugs have been initiated in order to find new possibilities of a therapy for obesity in these patients. The preliminary results of these studies seem to be encouraging. On the other hand, until well-proven medical treatments are available, bariatric surgery can be taken into consideration, especially in PWS patients with life-threatening comorbidities.

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“…where hyperphagia has been a pivotal clinical marker of the disease (124) . However, previous studies reported a decrease in OTR gene expression and density in the hypothalamic paraventricular nucleus of PWS males.…”

Section: Others (Adhd Ocd Depressionmentioning

confidence: 99%

How do hypothalamic nonapeptides shape youth’s sociality? A systematic review on oxytocin, vasopressin and human socio-emotional development

Torres

Martins

Santos

et al. 2018

Neuroscience & Biobehavioral Reviews

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The hypothalamic nonapeptides oxytocin and vasopressin are important modulators of socio-affective behaviours in a wide variety of animal species, including humans. Nevertheless, there is little research addressing their possible roles on socio-affective dimensions of human behaviour across development, during which considerable behavioural and physiological change occurs. Questions still remain about the extent to which findings from adults may directly apply to earlier phases of human development. In this article, we systematically summarize and discuss all existing studies investigating the developmental association of endogenous levels of hypothalamic neuropeptides oxytocin and vasopressin with human social behaviour or on its disruption in paediatric populations. Evidence is sparse insofar as there are still relatively few developmental studies and limited due to correlational research designs and unreliability of methods currently used for neuropeptide measurements in biological fluids. The findings to date generally converge with adult evidence, but also suggest that important differences between age stages may exist. Further studies focusing these differences may prove critical for informing drug development for socio-affective deficits in paediatric populations.

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Prader Willi Syndrome

Cited by 69 publications

References 142 publications

Efficacy of sodium-glucose cotransporter 2 inhibitor with glucagon-like peptide-1 receptor agonist for the glycemic control of a patient with Prader-Willi syndrome: a case report

Efficacy of sodium-glucose cotransporter 2 inhibitor with glucagon-like peptide-1 receptor agonist for the glycemic control of a patient with Prader-Willi syndrome: a case report

Obesity management in Prader–Willi syndrome: current perspectives

How do hypothalamic nonapeptides shape youth’s sociality? A systematic review on oxytocin, vasopressin and human socio-emotional development

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Prader Willi Syndrome

Cited by 69 publications

References 142 publications

Efficacy of sodium-glucose cotransporter 2 inhibitor with glucagon-like peptide-1 receptor agonist for the glycemic control of a patient with Prader-Willi syndrome: a case report

Efficacy of sodium-glucose cotransporter 2 inhibitor with glucagon-like peptide-1 receptor agonist for the glycemic control of a patient with Prader-Willi syndrome: a case report

Obesity management in Prader&ndash;Willi syndrome: current perspectives

How do hypothalamic nonapeptides shape youth’s sociality? A systematic review on oxytocin, vasopressin and human socio-emotional development

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Obesity management in Prader–Willi syndrome: current perspectives