Gastrointestinal System, Obesity, and Body Composition

Scheimann, Ann O.; Lee, Phillip; Ellis, Kenneth J.

doi:10.1007/978-0-387-33536-0_6

Cited by 14 publications

(27 citation statements)

References 184 publications

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“…Generalized hypotonia of the pharyngeal musculature may also lead to swallowing difficulties, and poor oral/motor coordination has been anecdotally reported [Scheimann et al, 2006]. Although generalized hypotonia may be a predisposing factor to aspiration, hypotonia is most prominent in the neonatal period but we did not observe any choking fatalities in individuals less than 2 years of age.…”

Section: Discussioncontrasting

confidence: 41%

Deaths due to choking in Prader–Willi syndrome

Stevenson

Heinemann

Angulo

et al. 2006

American J of Med Genetics Pt A

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Prader-Willi syndrome (PWS) is the most common known syndromic cause of life threatening obesity, yet few studies have examined the causes of death in PWS. The objective of this study was to examine the contribution of choking leading to mortality in PWS. In 1999, a brief survey was made available from the Prader-Willi Syndrome Association (USA) bereavement program, which documented demographic data and causes of death. Families were subsequently offered the opportunity to fill out a detailed questionnaire and additional forms to release medical records. Demographic information was available on 178 deceased individuals with PWS, and cause of death available on 152 individuals. Fifty-four families completed questionnaires. Of the deceased individuals with completed questionnaires, 34% reported a history of choking. Choking was listed by familial report as the cause of death in 12 (7.9%) of 152 subjects with an average age of 24 years (range 3-52y; median 22.5y) at death from choking. Only two of these individuals were less than eight years of age. The data suggest that risks associated with choking are different in the PWS population compared with normal. Potential causes of increased choking in PWS include poor oral/motor coordination, poor gag reflex, hypotonia, hyperphagia, decreased mastication and voracious feeding habits. We recommend implementation of preventive measures and education for families and group home care providers for all individuals with PWS including the Heimlich maneuver, supervised meals, better food preparation and diet modification to avoid high risk choking items.

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Section: Discussioncontrasting

confidence: 41%

Deaths due to choking in Prader–Willi syndrome

Stevenson

Heinemann

Angulo

et al. 2006

American J of Med Genetics Pt A

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“…In extreme cases, there have been reports that the hyperphagia and compulsive food‐seeking behavior leads to such profound stress on the gastrointestinal system that life‐threatening dilatation of the stomach can occur, eventually leading to perforation, inflammation, and necrosis (Wharton et al ., ; Stevenson et al ., ). A key component that influences the potential for gastric dilatation and damage is that individuals with PWS have been shown to have an extremely high threshold to resist the urge of vomiting, under both hyperphagic and non‐PWS illness situations such as a viral infection (Scheimann et al ., ; Stevenson et al ., ). To further exacerbate this, it has been reported that these individuals have a high tolerance to pain (Cassidy & Driscoll, ; Whittington & Holland, 2010), suggesting that feedback responses to inhibit eating (such as stomach distension and uncomfortable fullness after eating) are not being responded (Stevenson et al ., ).…”

Section: Gastrointestinal and Renal Systemsmentioning

confidence: 99%

Prader–Willi Syndrome: A spectrum of anatomical and clinical features

Hurren

Flack

2016

Clinical Anatomy

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Prader-Willi Syndrome (PWS) is estimated to affect 400,000 people worldwide. First described clinically in 1956, PWS is now known to be a result of a genetic mutation, involving Chromosome 15. The phenotypical appearance of individuals with the syndrome follows a similar developmental course. During infancy, universal hypotonia accompanied by feeding problems, hypogonadism, and dolichocephaly are evident. Characteristic facial features such as narrow bifrontal diameter, almond-shaped eyes, and small mouth (with downturned corners and thin upper lip) may also be evident at this stage. In early childhood, the craniofacial features become more obvious and a global developmental delay is observed. Simultaneously, individuals develop hyperphagia that leads to excessive or rapid weight gain, which, if untreated, exists throughout their lifespan and may predispose them to numerous, serious health issues. The standard tool for differential diagnosis of PWS is genetic screening; however, clinicians also need to be aware of the characteristic features of this disorder, including differences between the genetic subtypes. As the clinical manifestations of the syndrome vary between individuals and become evident at different developmental time points, early assessment is hindered. This article focuses on the clinical and anatomical manifestations of the syndrome and highlights the areas of discrepancy and limitations within the existing literature. Clin. Anat. 29:590-605, 2016. © 2016 Wiley Periodicals, Inc.

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“…The management of obesity in PWS is problematic (1,2). However, the recent utilization of growth hormone (GH) therapy, diet and behavior modifications, and group home management have improved body habitus in PWS (3,4,5). Still, individuals with PWS continue to have excessive appetites and can consume large amounts of food at one time in spite of environmental control.…”

Section: Introductionmentioning

confidence: 99%

Gastric Rupture and Necrosis in Prader‐Willi Syndrome

Stevenson

Heinemann²,

Angulo

et al. 2007

J. pediatr. gastroenterol. nutr.

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Hyperphagia and obesity are common features in individuals with Prader-Willi syndrome (PWS). Demographic and cause of death data from individuals with PWS were obtained through a national support organization. Four reports of unexpected mortality due to gastric rupture and necrosis were found in 152 reported deaths, accounting for 3% of the causes of mortality. Four additional individuals were suspected to have gastric rupture. Vomiting and abdominal pain, although rare in PWS, were frequent findings in this cohort. The physician should consider an emergent evaluation for gastric rupture and necrosis in individuals with PWS who present with vomiting and abdominal pain.

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Gastrointestinal System, Obesity, and Body Composition

Cited by 14 publications

References 184 publications

Deaths due to choking in Prader–Willi syndrome

Deaths due to choking in Prader–Willi syndrome

Prader–Willi Syndrome: A spectrum of anatomical and clinical features

Gastric Rupture and Necrosis in Prader‐Willi Syndrome

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