A measure of food seeking in individuals with Prader–Willi syndrome

Young, J.; Zarcone, Jennifer R.; Holsen, Laura M.; Anderson, M. C.; Hall, Sandra; Richman, David M.; Butler, Merlin G.; Thompson, Travis

doi:10.1111/j.1365-2788.2005.00724.x

Cited by 15 publications

(12 citation statements)

References 16 publications

(17 reference statements)

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“…Further evaluation led to the preclinical validation of 3 salivary proteomic markers (␤-2-microglobulin, cathespin D, and ␣-enolase) and 3 transcriptomic markers (myeloid cell nuclear differentiation antigen, guanylate binding protein 2, and lowaffinity IIIb receptor for the Fc fragment of the IgG) (20 ). Prader-Willi Syndrome is a genetic disorder associated with abnormalities of chromosome 15, and recent study has shown that saliva from patients with Prader-Willi syndrome is less abundant and more viscous and bubbly than saliva from a healthy control group (21 ).…”

Section: Biomolecules Produced In the Salivary Glands And Their Functmentioning

confidence: 99%

Diagnostic Potential of Saliva: Current State and Future Applications

et al. 2011

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BACKGROUND Over the past 10 years, the use of saliva as a diagnostic fluid has gained attention and has become a translational research success story. Some of the current nanotechnologies have been demonstrated to have the analytical sensitivity required for the use of saliva as a diagnostic medium to detect and predict disease progression. However, these technologies have not yet been integrated into current clinical practice and work flow. CONTENT As a diagnostic fluid, saliva offers advantages over serum because it can be collected noninvasively by individuals with modest training, and it offers a cost-effective approach for the screening of large populations. Gland-specific saliva can also be used for diagnosis of pathology specific to one of the major salivary glands. There is minimal risk of contracting infections during saliva collection, and saliva can be used in clinically challenging situations, such as obtaining samples from children or handicapped or anxious patients, in whom blood sampling could be a difficult act to perform. In this review we highlight the production of and secretion of saliva, the salivary proteome, transportation of biomolecules from blood capillaries to salivary glands, and the diagnostic potential of saliva for use in detection of cardiovascular disease and oral and breast cancers. We also highlight the barriers to application of saliva testing and its advancement in clinical settings. SUMMARY Saliva has the potential to become a first-line diagnostic sample of choice owing to the advancements in detection technologies coupled with combinations of biomolecules with clinical relevance.

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Section: Biomolecules Produced In the Salivary Glands And Their Functmentioning

confidence: 99%

Diagnostic Potential of Saliva: Current State and Future Applications

et al. 2011

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“…One proposed study would investigate gene expression patterns in PWS to identify gene expression differences that correlate with food-seeking and food-preference behaviour (Ref. 132). The application of proteomic technology in brain and peripheral tissues might also be helpful in elucidating the role of deleted or perturbed genes in neurobehavioural outcomes in PWS.…”

Section: Interesting Future Questionsmentioning

confidence: 99%

Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology

Bittel

Butler²

2005

Expert Rev. Mol. Med.

289

275

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Prader-Willi syndrome (PWS) is a neurodevelopmental disorder that arises from lack of expression of paternally inherited genes known to be imprinted and located in the chromosome 15q11-q13 region. PWS is considered the most common syndromal cause of life-threatening obesity and is estimated at 1 in 10,000 to 20,000 individuals. A de novo paternally derived chromosome 15q11-q13 deletion is the cause of PWS in about 70% of cases, and maternal disomy 15 accounts for about 25% of cases. The remaining cases of PWS result either from genomic imprinting defects (microdeletions or epimutations) of the imprinting centre in the 15q11-q13 region or from chromosome 15 translocations. Here, we describe the clinical presentation of PWS, review the current understanding of causative cytogenetic and molecular genetic mechanisms, and discuss future directions for research.

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“…Used predominantly in the U.K., university research review boards in the United States have deemed this approach to be unethical and of high medical risk. Circumventing these restrictions, Young et al (10) individually placed nine persons with PWS in a room that was baited with limited quantities of foods that varied in their acceptability, concealment, and contamination (11). Only three people engaged in food-seeking behaviors.…”

Section: Introductionmentioning

confidence: 99%

Assessment of Hyperphagia in Prader‐Willi Syndrome

Dykens¹,

Maxwell²,

Pantino³

et al. 2007

Obesity

162

146

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Objective: Prader-Willi syndrome (PWS), the leading known genetic cause of obesity, is characterized by intellectual disabilities, maladaptive and compulsive behaviors, and hyperphagia. Although complications of obesity resulting from hyperphagia are the leading cause of death in PWS, quantifying this drive for food has long been an unmet research need. This study provides factor-analytic and within-syndrome analyses of a new measure of hyperphagia in PWS. Research Methods and Procedure: A 13-item informant measure, the Hyperphagia Questionnaire, was developed and administered to the parents of 153 persons with PWS, 4 to 51 years of age. The intelligence quotients, genetic subtypes of PWS, and BMIs of offspring were obtained, as were measures of their non-food problem behaviors. Results: Factor analyses with varimax rotation produced three statistically and conceptually robust factors that accounted for 59% of the variance: Hyperphagic Behaviors, Drive, and Severity. Hyperphagic Behavior increased with age, whereas Drive remained stable, and Severity dipped in older adults. Hyperphagic Drive and Severity were positively correlated with non-food behavior problems, and Hyperphagic Drive differentiated the 36% of participants with extreme obesity from those who had overweight/obese (48%) or healthy (16%) BMI classifications. Discussion:The Hyperphagia Questionnaire is a robust tool for relating breakthroughs in the neurobiology of hyperphagia to in vivo food-seeking behavior and for examining the psychological and developmental correlates of hyperphagia in PWS. The Hyperphagia Questionnaire also offers a nuanced, real-life outcome measure for future clinical trials aimed at curbing the life-threatening drive for food in PWS.

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A measure of food seeking in individuals with Prader–Willi syndrome

Cited by 15 publications

References 16 publications

Diagnostic Potential of Saliva: Current State and Future Applications

Diagnostic Potential of Saliva: Current State and Future Applications

Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology

Assessment of Hyperphagia in Prader‐Willi Syndrome

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