Latest PWS Research Papers

Our team from Cambridge University, UK, has put together the next series of published research in the PW world.  Please read, share, download, and add to your knowledge!  There is a large number of papers this time; all abstracts can be downloaded from our website

Scroll down to the April to June 2015 papers.  The full papers can also be accessed here.

Behaviour (including eating)

  • Davies, J. R., Humby, T., Dwyer, D. M., Garfield, A. S., Furby, H., Wilkinson, L. S., & Isles, A. (2015). Calorie seeking, but not hedonic response, contributes to hyperphagia in a mouse model for Prader‐Willi syndrome. European Journal of Neuroscience.

  • Manning, K. E., McAllister, C. J., Ring, H. A., Finer, N., Kelly, C. L., Sylvester, K. P., ... & Holland, A. J. (2015). Novel insights into maladaptive behaviours in Prader–Willi syndrome: serendipitous findings from an open trial of vagus nerve stimulation. Journal of Intellectual Disability Research. Doi: 10.111/jidr.12203

  • Rice, L. J., Gray, K. M., Howlin, P., Taffe, J., Tonge, B. J., & Einfeld, S. L. (2015, May). The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader–Willi syndrome and Williams syndrome. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics.

  • Tvrdik, T., Mason, D., Dent, K. M., Thornton, L., Viskochil, D. H., & Stevenson, D. A. (2015). Stress and coping in parents of children with Prader‐Willi syndrome: Assessment of the impact of a structured plan of care. American Journal of Medical Genetics Part A, 167(5), 974-982.

  • Elliott, J. P., Cherpes, G., Kamal, K., Chopra, I., Harrison, C., Riedy, M., & Kalarchian, M. (2015). Relationship between Antipsychotics and Weight in Patients with Prader–Willi Syndrome. Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, 35(3), 260-268.

 

Cognition and mental health

  • Chevalère, J., Postal, V., Jauregui, J., Copet, P., Laurier, V., & Thuilleaux, D. (2015). Executive Functions and Prader-Willi Syndrome: Global Deficit Linked With Intellectual Level and Syndrome-Specific Associations. American journal on intellectual and developmental disabilities, 120(3), 215-229.

  • Feinberg, J. I., Bakulski, K. M., Jaffe, A. E., Tryggvadottir, R., Brown, S. C., Goldman, L. R., & Feinberg, A. P. (2015). Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort. International journal of epidemiology, dyv028.

  • Foti, F., Menghini, D., Orlandi, E., Rufini, C., Crinò, A., Spera, S., & Mandolesi, L. (2015). Learning by observation and learning by doing in Prader-Willi syndrome. Journal of neurodevelopmental disorders, 7(1), 6.

  • Lo, S. T., Collin, P. J. L., & Hokken‐Koelega, A. C. S. (2015). Psychiatric disorders in children with Prader–Willi syndrome—Results of a 2‐year longitudinal study. American Journal of Medical Genetics Part A, 167(5), 983-991.

  • Lo, S. T., Collin, P. J., & Hokken‐Koelega, A. C. (2015). Visual‐motor integration in children with Prader–Willi syndrome. Journal of Intellectual Disability Research.

 

Endocrine and GH

  • Bakker, N. E., van Doorn, J., Renes, J. S., Donker, G. H., & Hokken-Koelega, A. C. S. (2015). IGF-I levels, complex formation and IGF-bioactivity in Growth Hormone treated Children with Prader-Willi syndrome. The Journal of Clinical Endocrinology & Metabolism, jc-2015.

  • Bakker, N. E., Siemensma, E. P. C., Koopman, C., & Hokken-Koelega, A. C. S. (2015). Dietary Energy Intake, Body Composition and Resting Energy Expenditure in Prepubertal Children with Prader-Willi Syndrome before and during Growth Hormone Treatment: A Randomized Controlled Trial. Hormone research in paediatrics, 83(5), 321-331.

  • Bedogni, G., Grugni, G., Tringali, G., Marazzi, N., & Sartorio, A. (2015). Does segmental body composition differ in women with Prader–Willi syndrome compared to women with essential obesity? Journal of endocrinological investigation, 1-5.

  • Butler, M. G., & Manzardo, A. M. (2015). Androgen receptor (AR) gene CAG trinucleotide repeat length associated with body composition measures in non-syndromic obese, non-obese and Prader-Willi syndrome individuals. Journal of assisted reproduction and genetics, 1-7.

  • Irizarry, K. A., Bain, J., Butler, M. G., Ilkayeva, O., Muehlbauer, M., Haqq, A. M., & Freemark, M. (2015). Metabolic profiling in Prader–Willi syndrome and nonsyndromic obesity: sex differences and the role of growth hormone. Clinical endocrinology.

  • Kuppens, R. J., Diène, G., Bakker, N. E., Molinas, C., Faye, S., Nicolino, M., ... & Hokken-Koelega, A. C. S. (2015). Elevated ratio of acylated to unacylated ghrelin in children and young adults with Prader–Willi syndrome. Endocrine, 1-10.

  • Marzullo, P., Marcassa, C., Minocci, A., Campini, R., Eleuteri, E., Alessandro Gondoni, L., ... & Grugni, G. (2015). Long-term echocardiographic and cardioscintigraphic effects of growth hormone treatment in adults with prader-willi syndrome. The Journal of Clinical Endocrinology & Metabolism, jc-2015.

  • Nair, A., Kandasamy, D., Tripathi, M., & Jyotsna, V. P. (2015). Gall bladder agenesis in Prader Willi syndrome. Indian Journal of Endocrinology and Metabolism, 19(2), 305.

  • Purtell, L., Viardot, A., Sze, L., Loughnan, G., Steinbeck, K., Sainsbury, A., ... & Campbell, L. V. (2015). Postprandial metabolism in adults with prader–willi syndrome. Obesity, 23(6), 1159-1165.

  • Rigamonti, A. E., Grugni, G., Marazzi, N., Bini, S., Bidlingmaier, M., & Sartorio, A. (2015). Unaltered ratio of circulating levels of growth hormone/GH) isoforms in adults with Prader–Willi syndrome after GHRH plus arginine administration. Growth Hormone & IGF Research.

  • Abreu, A. P., Macedo, D. B., Brito, V. N., Kaiser, U. B., & Latronico, A. C. (2015). A new pathway in the control of the initiation of puberty: the MKRN3 gene. Journal of molecular endocrinology, 54(3), R131-R139.

 

Genetics and brain imaging

  • Butler, M. G., Wang, K., Marshall, J. D., Naggert, J. K., Rethmeyer, J. A., Gunewardena, S. S., & Manzardo, A. M. (2015). Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader–Willi and Alström syndromes. Advances in genomics and genetics, 2015(5), 53.

  • Kishimoto, R., Tamada, K., Liu, X., Okubo, H., Ise, S., Ohta, H., ... & Takumi, T. (2015). Model mice for 15q11-13 duplication syndrome exhibit late onset obesity and altered lipid metabolism. Human molecular genetics.

  • Ostergaard, J. R. (2015). Phenotype of a child with Angelman syndrome born to a woman with Prader–Willi syndrome. American Journal of Medical Genetics Part A.

  • Pravdivyi, I., Ballanyi, K., Colmers, W. F., & Wevrick, R. (2015). Progressive postnatal decline in leptin sensitivity of arcuate hypothalamic neurons in the Magel2-null mouse model of Prader-Willi Syndrome. Human molecular genetics, ddv159.

  • Yang, A., Lee, Y. H., Nam, S. Y., Jeong, Y. J., Kyung, Y., Huh, R., ... & Jin, D. K. (2015). Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion. Annals of pediatric endocrinology & metabolism, 20(1), 40-45.

  • Zarate, Y. A., Bosanko, K. A., Bhoj, E., Ganetzky, R., Starr, L. J., Zackai, E. H., & Schaefer, G. B. (2015). Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses. American Journal of Medical Genetics Part A.

  • Zhang, Y., Wang, J., Zhang, G., Zhu, Q., Cai, W., Tian, J., ... & Liu, Y. (2015). The neurobiological drive for overeating implicated in Prader-Willi syndrome. Brain research.

 

Sensory and physical

  • Angriman, M., Caravale, B., Novelli, L., Ferri, R., & Bruni, O. (2015). Sleep in Children with Neurodevelopmental Disabilities. Neuropediatrics.

  • Ho, A. L., Sussman, E. S., Pendharkar, A. V., Azagury, D. E., Bohon, C., & Halpern, C. H. (2015). Deep brain stimulation for obesity: rationale and approach to trial design. Neurosurgical focus, 38(6), E8.

  • Levy, B. J., Schulz, J. F., Fornari, E. D., & Wollowick, A. L. (2015). Complications associated with surgical repair of syndromic scoliosis. Scoliosis, 10(1), 14.

  • Pavone, M., Caldarelli, V., Khirani, S., Colella, M., Ramirez, A., Aubertin, G., ... & Fauroux, B. (2015). Sleep disordered breathing in patients with Prader–Willi syndrome: A multicenter study. Pediatric pulmonology.

  • Stagi, S., Iurato, C., Lapi, E., Cavalli, L., Brandi, M. L., & de Martino, M. (2015). Bone status in genetic syndromes: A review. Hormones (Athens, Greece), 14(1), 19-31.

  • Tvrdik, T., Mason, D., Dent, K. M., Thornton, L., Viskochil, D. H., & Stevenson, D. A. (2015). Stress and coping in parents of children with Prader‐Willi syndrome: Assessment of the impact of a structured plan of care. American Journal of Medical Genetics Part A, 167(5), 974-982.

  • Yang, H., Zhang, M., Song, H., Zhu, H., & Pan, H. (2015). Growth patterns of Chinese patients with Prader‐Willi syndrome. Congenital anomalies.

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