Hyperphagia among patients with Bardet-Biedl syndrome

Authors

  • R. Sherafat-Kazemzadeh,

    1. Section on Growth and Obesity (SGO), Program in Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), DHHS, Bethesda, MD, USA
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  • L. Ivey,

    1. Human Development Section, Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
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  • S. R. Kahn,

    1. Section on Growth and Obesity (SGO), Program in Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), DHHS, Bethesda, MD, USA
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  • J. C. Sapp,

    1. Human Development Section, Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
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  • M. D. Hicks,

    1. Section on Growth and Obesity (SGO), Program in Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), DHHS, Bethesda, MD, USA
    2. Unit on Metabolism and Neuroendocrinology, SGO, PDEGEN, NICHD, NIH, DHHS, Bethesda, MD, USA
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  • R. C. Kim,

    1. Section on Growth and Obesity (SGO), Program in Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), DHHS, Bethesda, MD, USA
    2. Unit on Metabolism and Neuroendocrinology, SGO, PDEGEN, NICHD, NIH, DHHS, Bethesda, MD, USA
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  • A. J. Krause,

    1. Section on Growth and Obesity (SGO), Program in Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), DHHS, Bethesda, MD, USA
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  • L. B. Shomaker,

    1. Section on Growth and Obesity (SGO), Program in Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), DHHS, Bethesda, MD, USA
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  • L. G. Biesecker,

    1. Human Development Section, Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
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  • J. C. Han,

    1. Section on Growth and Obesity (SGO), Program in Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), DHHS, Bethesda, MD, USA
    2. Unit on Metabolism and Neuroendocrinology, SGO, PDEGEN, NICHD, NIH, DHHS, Bethesda, MD, USA
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  • J. A. Yanovski

    Corresponding author
    • Section on Growth and Obesity (SGO), Program in Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), DHHS, Bethesda, MD, USA
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  • This research was supported by the Intramural Research Programs of the NICHD, and NHGRI, NIH. J.A.Y. is a Commissioned Officer in the U.S. Public Health Service, Department of Health and Human Services. The funding organizations played no role in the design and conduct of the study; the collection, management, analysis, and interpretation of data; or the preparation or review of the manuscript.

Address for correspondence: Dr JA Yanovski, Section on Growth and Obesity, Program in Developmental Endocrinology and Genetics, NICHD, NIH, 10 Center Drive, Hatfield Clinical Research Center, Room 1E-3330, MSC 1103, Bethesda, MD 20892-1103, USA. E-mail: jy15i@nih.gov

Summary

Background

The importance of hyperphagia as a cause for energy imbalance in humans with Bardet-Biedl syndrome (BBS) has not been established. We therefore compared hyperphagic symptoms in patients with BBS vs. controls.

Methods: 

We studied 13 patients with BBS and 23 non-syndromic controls with similar age, sex and body mass index (BMI) z-score. A 13-item hyperphagia questionnaire was completed by patients' parents/guardians.

Results

Total hyperphagia questionnaire score was higher in BBS than controls (27.6 ± 9.0 vs. 19.1 ± 7.9, P = 0.005). Behaviour and drive subscales were higher for BBS than controls (12.5 ± 4.1 vs. 7.8 ± 3.2, P = 0.001, and 11.2 ± 4.1 vs. 8.3 ± 3.8, P = 0.04, respectively); severity was not significantly different between groups (3.8 ± 1.5 vs. 3.0 ± 1.3, P = 0.072). After adjustment for demographic variables and BMI z-score, total and behaviour subscale scores remained significantly different between groups, suggesting food-seeking activity, rather than preoccupation with food may be the main hyperphagic feature among patients with BBS.

Conclusion

Appetite dysregulation may contribute to obesity in BBS.

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