RDCRC Research Update


RDCRC Productivity on Angelman, Rett, and Prader- Willi Syndromes 

Enrollment: Enrollment in the three disorders in this consortium has proceeded well since we received authorization to begin enrollment in March 2006 for Angelman (AS) and Rett (RTT) syndromes and in 2007 for Prader-Willi syndrome (PWS).  The higher target enrollment for Rett syndrome reflects the >200 mutations in this disorder versus the high frequency of chromosome deletions in the AS and PWS with respect to developing phenotype-genotype correlations.  Enrollment numbers as of September 1, 2010 are provided below

Total Enrollment:                   1397

Angelman syndrome     286 (natural history: 196/300; treatment trial: 91/91

Rett syndrome              920/1000

Prader-Willi syndrome  190/300

Scholarly activities: Scholarly activities for each disorder are listed below.  These include abstracts and presentations, chapters and reviews, and original, peer-reviewed papers.

Angelman Syndrome

Abstracts

Bacino CA, Peters SU, Beaudet AL, Madduri NS, Bird L, Barbieri-Welge R, Bichell TJ, Sahoo T.  Comparative genome microarray testing in deletion positive Angelman syndrome subjects and genotype-phenotype correlations.  Class I deletions predict a more severe phenotype.  Platform presentation at the Am College of Medical Genetics meeting, Grapevine, TX, March 17-20 (2005).
Bacino CA, Peters SU, Beaudet AL, Bird L, Barbieri-Welge R, Bichell TJ, Sahoo T.  Deletion classes in Angelman syndrome:Genotype-phenotype correlations.  Presentation at the biennial Angelman Syndrome Foundation conference, Anaheim, CA, June 28 (2005).
Beaudet AL, Bacino CA, Bird LM, Kimonis V, Peters S, Bichell TJ, Barbieri-WeIge R, Shinawi L.  Results of a trial of folic acid and betaine in Angelman syndrome and future directions.  Presentation at the biennial Angelman Syndrome Foundation conference, Anaheim, CA, June 28 (2005).
Beaudet AL.  Presentation at the Canadian Angelman Syndrome Society, July 23 (2004).
Bichell, TJ, Virginia Kimonis, Carlos Bacino, Art Beaudet, Lynne Bird, Mark Nespeca. Efficacy of Anti-Epileptic Medications for Angelman Syndrome.  Presentation at the Angelman Syndrome Foundation’s 10th Biennial Conference and Scientific Symposium, St. Louis, MO, July 26 (2007).
Bichell, T.J., Valle, C., Johnson, M., Huffsmith, B., Rossi, L., Ulman, TC, Gutierrez, C., Key, S., Lee, E., & Dykens, E. Alphabet Therapy: A novel way to teach children with Angelman Syndrome and measure their academic abilities. Presented at the Angelman Syndrome Foundation’s 10th Biennial Conference and Scientific Symposium, St. Louis, MO, July 26 (2007).
Bird LM, Bichell TJ, Bacino C, Beaudet A, Shinawi L, Kimonis V.  Gastrointestinal manifestations of Angelman syndrome.  Presentation at the biennial Angelman Syndrome Foundation conference, Anaheim, CA, June 28 (2005).
Bird LM, Bacino CA, Skinner SA, Tan W-H, Peters SU, Kimonis V, Barbieri-Welge R, Bichell TJ, Waisbren S, Gentile J, Tunick R, Anselm I, and Beaudet AL.  Treatment of Angelman syndrome: Results of the Folate-Betaine trial and interim analysis of the metafolin-betaine-vitamin B12-creatine trial.  Platform presentation at David W. Smith Workshop on Malformations and Morphogenesis, August 9 (2008). 
Bird LM.  Angelman Syndrome: Rationale for Therapeutic Trials, presented at University of California, San Diego, Department of Pediatrics/Rady Children’s Hospital San Diego Grand Rounds, Sept. 14 (2007).
Bird LM, on behalf of all Angelman investigators of the Angelman-Rett-Prader-Willi syndromes consortium.  Results of the Folate-Betaine trial for the treatment of Angelman syndrome, and progress in the Betaine-B12-Creatine-Metafolin trial.  Presentation at the biennial Angelman Syndrome Foundation conference, St. Louis, MO, July 25 (2007).
Gentile JK, Tan WH, Bacino, CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Horowitz LT, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.  Poster presentation at the American College of Medical Genetics 2009 Annual Clinical Meeting, Tampa, Florida, March 27 (2009).
Gentile JK, Tan WH, Bacino, CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Horowitz LT, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.  Platform presentation at the American Society of Human Genetics Meeting, Honolulu, HI (October 23, 2009).
Peters SU, Beaudet AL, Madduri NS, Sahoo T, Bird LM, Barbieri-Welge R, Bichell TJ, Bacino CA.  Autism in Angelman syndrome.  Presented at the biennial Angelman Syndrome Foundation conference, Anaheim, CA, June 28 (2005).
Peters SU, Sahoo T, Beaudet AL, German J, Bird LM, Barbieri-Welge R, Bichell TH, Bacino CA.  Redefining the clinical phenotype in Angelman syndrome using microarray-based comparative genomic hybridization testing in children with known deletions.  Poster presentation at the American Society of Human Genetics meeting, Salt Lake City, UT, October 25-29 (2005). 
Peters S, Sahoo T, German JR, Shaw CA, Bird LM, Kimonis V, Beaudet AL, Bacino CA.  Identification of novel deletions of 15q11q13 in Angelman syndrome by array-based comparative genomic hybridization (CGH):  Large segmental duplicons flank the breakpoints.  Poster presentation at the American Society of Human Genetics meeting, New Orleans, LA, October 9-13 (2006).
Peters, S.U., Bacino, C.A., Chu, Z., Merkley, T., Traipe, E., Hunter, J.V., Wilde, E.A. Phenotypic characterization in Angelman Syndrome using advanced neuroimaging techniques. Poster to be presented at the annual meeting of The American College of Medical Genetics, Tampa, Florida, March 27 (2009).
Peters, S.U., Bird, L.M., Barbier-Welge, R., Tan, W.H., Hundley, R., Skinner, S., Bauer-Carlin, A., Sahoo, T., Bacino, C.A. The relationship between molecular subtype and autism symptom severity in Angelman Syndrome. Poster presented at the International Meeting for Autism Research, London, UK, May 15 (2008).
Peters, S.U., Bacino, C.A., Chu, Z., Yallampalli, R., Torres, L., Hunter, J.V., Wilde, E.A. Inside the brain in Angelman Syndrome: Phenotypic characterization using advanced neuroimaging techniques. (452). Presented at the annual meeting of The American Society of Human Genetics, Philadelphia, Pennsylvania, November (2008). Available online the following URL:
http://www.ashg.org/2008meeting/abstracts/fulltext/*
Peters, S.U., Bacino, C.A., Chu, Z., Merkley, T., Traipe, E., Hunter, J.V., Wilde, E.A. Phenotypic characterization in Angelman Syndrome using advanced neuroimaging techniques. Poster presentation at the American College of Medical Genetics Annual Clinical Meeting, Tampa, FL (March 27, 2009). 
Peters SU, Bacino CA, Merkley T, Chu Z, Hunter JV, Wilde EA. Brain-based differences predict the overall clinical phenotype and within-group differences in Angelman syndrome. Oral presentation at the Angelman Syndrome Foundation Annual Scientific symposium, Orlando, FL (July 29, 2009). Rossi, L., Valle, C., Lumauag, F., Johnson, M., Huffsmith, B., Ulman, TC, Gutierrez, C., Key, S., Lee, E., & Dykens, E., Bichell, T.J.   Alphabet Therapy: A novel way to teach children with Angelman Syndrome and measure their academic abilities. Presentation at the ABAI Annual Conference, Chicago, IL, May (2008).
Tan WH, Bacino CA, Skinner SA, Beaudet AL, Bichell TJ, Bird LM. A Summary of the Rare Disease Network’s Angelman Syndrome Natural History Study.  Platform presentation at the Angelman Syndrome Foundation 2007 Scientific Symposium, St Louis, Missouri, July 25 (2007).
Tan WH, Lawrence JZ, Bacino CA, Skinner SA, Beaudet AL, Bichell TJ, Bird LM. A Natural History Study of Angelman Syndrome.  Poster presentation at the Rare Diseases Clinical Research Network 2007 Conference on Clinical Research for Rare Diseases, Bethesda, Maryland, Sept 9, 2007.
Tan WH.  Angelman Syndrome Natural History Study.  Invited Lecture: Pediatric Grand Rounds, Shaare Zedek Medical Center, Jerusalem, Israel, May 26 (2008).
Tan WH, Bacino, CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM. Clinical features in 102 patients with Angelman syndrome.  Platform presentation at the American College of Medical Genetics 2009 Annual Clinical Meeting, Tampa, Florida, March 27 (2009).
Tan WH, Bacino, CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM. Clinical features in 102 patients with Angelman syndrome.  Poster presentation at the European Human Genetics Conference, Vienna, Austria, May (2009).
Tan WH, Bacino, CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM. Clinical features in 102 patients with Angelman syndrome.  Presented at Angelman Syndrome Foundation Scientific Symposium, Orlando, FL (July 2009).

Chapters/Reviews

: (updated September 2008) Angelman Syndrome in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle. 1997-2008. Available at http://www.genetests.org.

Original Papers

Bittel, D.C., Kibiryeva, N., Talebizadeh, Z., Driscoll, D.J. and Butler, M.G.: Microarray analysis of gene/transcript expression in Angelman syndrome:deletion versus UPD. Genomics 85:85-91, 2005.
Blum NJ, Bird LM, Stein MT.  Global developmental delay in a 10-month-old infant boy.  J Dev Behav Pediatr 30(1):72-4 (2009).  (Discussion of a case presentation of a child with Angelman syndrome)
Dindot SV, Antalffy BA, Bhattacharjee MB, Beaudet AL. The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum Mol Genet. 17(1):111-8 (2008). 
Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU. A Neurodevelopmental Survey of Angelman Syndrome WithGenotype-Phenotype Correlations. J Dev Behav Pediatr. 2010 Aug 19. [Epub ahead of print] PubMed PMID: 20729760.
Haas, KF, Miller, SL, Friedman, DB, Broadie, K. The ubiquitin-proteasome system postsynaptically regulates glutamatergic synaptic function. Mol Cell Neurosci, 35(1), 64-75 (2007).
Haas, KF, Woodruff III, E, Broadie, K. Proteasome function is required to maintain muscle cellular architecture. Biol Cell, 99(11) 15-626 (2007).
Haas, KF, Broadie, K. Roles of ubiquitination at the synapse, BBA Gene Regulatory Mechanisms, 1779(8) 495-506 (2008).
Jiang YH, Beaudet AL. Human disorders of ubiquitination and proteasomal degradation. Curr Opin Pediatr. 16(4):419-26 (2004). 
Lawson-Yuen A, Wu BL, Lip V, Sahoo T, Kimonis V. Atypical cases of Angelman syndrome. Am J Med Genet A 140(21):2361-4 (2006).
Peters SU, Goddard-Finegold J, Beaudet AL, Madduri N, Turcich M, Bacino CA.  Cognitive and adaptive behavior profiles of children with Angelman syndrome.  Am J Med Genet A. 15;128A(2):110-3 (2004). 
Peters SU, Beaudet AL, Madduri N, Bacino CA. Autism in Angelman syndrome: implications for autism research. Clin Genet. 66(6):530-6 (2004).
Peters SU, Bird LM, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, Barbieri-Welge R, Nespeca M, Anselm I, Waisbren S, Sanborn E, Sun Q, O'Brien WE, Beaudet AL, Bacino CA. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A. 2010 Aug;152A(8):1994-2001. PubMed PMID: 20635355.
Peters SU, Bacino CA, Adapa P, Chu Z, Yallampalli R, Traipe E, Hunter JV, Wilde EA. White matter alterations predict the clinical phenotype in Angelman Syndrome.  Developmental Medicine and Child Neurology [in revision]. 
Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL.Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am J Med Genet A. 139A(2):106-13 (2005).
Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU.  Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.  Eur J Hum Genet 15(9):943-9 (2007). 
Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA. Microarray-based comparative genomic hybridization testing in deletion-bearing Angelman syndrome patients: Genotype-phenotype correlations. J Med Genet 43:512-516 (2006).
Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM.  Angelman syndrome:  Mutations influence features in childhood.  Am J Med Genet A,2010, in press.
van Woerden GM, Gustin RM, Qiu S, Hojjati MR, Harris KD, Avila-Freire R, Jiang YH, Elgersma, Y and Weeber EJ. Rescue of neurological deficits in a mouse model for Angelman Syndrome by reduction of CaMKII inhibitory phosphorylation. Nature Neuroscience, 2007, 10(3)280-2.
Weeber EJ, Jiang YH, Elgersma Y, Varga AW, Carrasquillo Y, Brown SE, Christian JM, Mirnikjoo B, Silva A, Beaudet AL, Sweatt JD. Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome. J Neurosci. 23(7):2634-44 (2003).
Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A. 140(5):413-8 (2006).
Wu MY, Chen KS, Bressler J, Hou A, Tsai TF, Beaudet AL. Mouse imprinting defect mutations that model Angelman syndrome. Genesis. 44(1):12-22 (2006).

Rett Syndrome

Abstracts/Presentations

Fang P, Ward PA, Glaze DG, Van den Veyver IB, Percy A, Zoghbi HY, Roa BB. Comprehensive Clinical Testing of the MECP2 Gene for Rett Syndrome. ACMG, 2005.
Fang P, Ward PA, Berry SA, Irons M, Chong B, Van den Veyver IB, Neul J, Percy AK, Glaze, DG, Zoghbi HY, Roa BB. MECP2 gene rearrangements in female and male patients with features of Rett syndrome. ASHG. 2005.
Glaze D, Percy A, Skinner S, Motil KJ, Neul J, Barrish J, Lane J, Geerts S, Annese F, Graham J, and McNair L. Natural History of Rett Syndrome: Epilepsy. Poster Presentation (Abstract #: 753330): Pediatric Academic Societies’ (PAS) Annual Meeting in Baltimore, Maryland, May 2-5, 2009.

Glaze D, Percy A, Skinner S, Motil KJ, Neul J, Barrish J, Lane J, Geerts S, Annese F, Graham J, and McNair L:  Profiling Scoliosis in Rett Syndrome (Abstract #: 450125) Pediatric Academic Societies’ (PAS) Annual Meeting in Baltimore, Maryland, May 2-5, 2009.

Glaze, D.G.  Ten Reasons to Talk About Sleep When Your child Has a Developmental Disorder. Presented at the “Evenings with Genetics” Monthly Seminar Series sponsored by Baylor College of Medicine and Texas Children’s Hospital.  April 20, 2010, The Health Museum, 1515 Hermann Drive, Houston, Texas 77004.

Kirby RS, Percy AK, Lane JB, Glaze DG, Skinner SA, MacLeod P, Barrish J, Annese F. Longevity in Rett Syndrome: Probing the North American Database. Submitted to Child Neurology Society meeting, November, 2008.

Motil KJ, Morrissey M, Caeg E, Barrish JO, Glaze DG.  Gastrostomy placement favorably alters the natural history of growth failure and undernutrition in Rett syndrome.  J Pediatr Gastroenterol Nutr 2007;45:E17.

Motil KJ, Caeg E, Barrish JO, Glaze DG.  Nutritional and gastrointestinal problems frequently complicate the clinical course of girls and women with Rett syndrome.  J Pediatr Gastroenterol Nutr 2007;45:E17-E18.

Neul J, Glaze D, Percy A, Lane J, Barrish J.  Specific MECP2 mutations confer different severity in Rett Syndrome, CNS, 2005.

Percy A.  Rett syndrome: Current status and new directions. Neuropediatrics 2006;26:S178. Presented at 10th Annual International Child Neurology Congress, Montreal, 2006.

Percy AK.  Summary of clinical trials experience in Rett syndrome.  Clinical Trials In Rett Syndrome. International Workshop. San Francisco, May 29-31, 2006.

Percy AK.  Gene therapy in Rett syndrome.  Clinical Trials In Rett Syndrome. International Workshop. San Francisco, May 29-31, 2006.

Percy AK.  R. O. Brady Lecture in Neurogenetics:  Syndromic Forms of Mental Retardation. NYU. Neurogenetics for the Practitioner. Nov 10, 2006.

Percy AK.   Rett syndrome and MECP2: Understanding the genotype-phenotype correlations. National Society of Genetic Counselors. Nashville. Nov 13, 2006.

Percy A, Lee H-S, Glaze D, Skinner S, Motil KJ, Neul J, Barrish J, Lane J,

Geerts S, Annese F, Graham J, and McNair L. Profiling Scoliosis in Rett

Syndrome.  Poster Presentation: Pediatric Academic Society meeting, 2009.

Peters, S.U., Tavyev, J., Zhang, F., Zoghbi, H. An emerging behavioral phenotype in female carriers with MECP2 duplications: Implications for the Broad Autism Phenotype. Paper presented at the Keystone Symposia: Toward a Pathophysiology of Autism. Santa Fe, NM, February 24 (2008).

Roa BB, Ward PA, Glaze DG, Neul JL, Van den Veyver IB, Percy A, Zoghbi HY, Fang P. Clinical Molecular Testing for Rett Syndrome: Comprehensive Analysis for Point Mutations and Large Rearrangements in the MECP2 Gene. RSRF Annual Meeting, 2005.

Skinner, SA. Invited presentation to the Medical University of South Carolina Neurosciences Graduate Program on Rett Syndrome on April 5, 2007.

 

Tarquinio D, Lane J, Percy A, et al. The Natural History of Rett Syndrome: Phenotypic Differences in Classical Rett Syndrome are Associated with Specific MECP2 Mutations. in Rare Disease Clinical Research Network Conference on Clinical Research for Rare Diseases. 2007. Bethesda, MD.

Tarquinio DC, Motil K, Glaze DG, Skinner SA, Neul JL, Annese F, Barrish JO, Geerts SP, Lane JB, Percy AK. Growth Charts for Rett Syndrome: birth to 18 years of age. Ann Neurol 64:S102,2008. (Presented at 2008 Child Neurology Society meeting.)

Tarquinio D, Motil K, Hou W, Glaze D, Skinner S, Neul J, Annese F, Barrish J, Geerts S, Lane J, Percy A.  Growth Charts for Rett Syndrome: Birth to 18 Years of Age. Neurology 72 (Suppl 3):A427-A428,2009.  Platform presentation American Academy of Neurology annual meeting, Seattle, WA. April, 2009.  ID: 2740AAN09D1

Van den Veyver I, Amir R, Fang P, Yu Z, Glaze D, Percy A, Zoghbi H, Roa B.  Mutations in the newly discovered coding exon 1 of MECP2 are a rare cause of classic Rett syndrome. ASHG, November, 2004.

Chapters/Reviews

Neul, JL.  Rett Syndrome and MECP2-Related Disorders. In Autism Spectrum Disorders, Oxford University Press.  In Press, 2009.

Percy AK.  Rett Syndrome: Clinical and Molecular Update.  Current Opinion in Pediatrics 16:670-677, 2004.

Percy AK.  Rett Syndrome. In Current Management in Child Neurology. 3rd Edition. BL Maria (ed). BC Decker. Hamilton, Ontario. 2005.

Percy, A.K. Rett Syndrome: Clinical Update and Future Prospects. In Medical Care for Children and Adults with Developmental Disabilities, 2nd Edition, Rubin IL, Crocker AC (ed), Paul H. Brookes Publishing Co., Baltimore, 2006, pp.171-178.

Percy AK. Rett Syndrome. In Principles and Practice of Pediatrics, Oski, FA, DeAngelis, C, Feigin, RD, Warshaw, JB (eds), 5th Edition, J.B. Lippincott Williams & Wilkins, Philadelphia, 2006, pp. 2361-2363.

Percy AK.  Rett Syndrome: Recent Research Progress. J Child Neurol 23:543-549,2008 (available on-line December 3, 2007).

Percy AK, Lane JB.  Rett Syndrome. In Current Management in Child Neurology. BL Maria (ed). BC Decker. Hamilton, Ontario. 2009, pp. 375-382.

Tarquinio DC, Percy AK.  Rett Disorder. In APPI Textbook of Autism Spectrum Disorder. (eds) E Hollander, Kolevzon A, Coyle JT. 2008.

 

Original Papers

Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B,

Yatawara N, Percy A, Kaufmann WE, Leonard H.  Investigating genotype-

phenotype relationships in Rett syndrome using an international dataset.

Neurology 70:868-875,2008.

del Gaudio D, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A., Lee

JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich G,

Khera J, Friedman N, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW,

and Roa BB.  Increased MECP2 gene copy number due to genomic duplication in

neurodevelopmentally-delayed males.  Genet Med 2006 8(12):784-792.

Glaze DG, Percy AK, Motil KJ, Lane JB, Isaacs JS, Schultz RJ, Barrrish J, Neul JL, O’Brien WE, Smith EO.  A study of the treatment of Rett syndrome with folate and betaine.  J Child Neurol 2009; published on February 18, 2009 as doi:10.1177/0883073808327827, pp. 1-6.

Glaze DG, Percy AK, Skinner S, Motil KJ, Neul JL, Barrish JO, Lane JB, Geerts SP, Annese F, Graham J, McNair L, Lee HS. Epilepsy and the natural history of Rett syndrome. Neurology. 2010 Mar 16;74(11):909-12.  PMID: 20231667

Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris CM, Dure LS, Friez M, Lane J, Kiraly-Borri C, Fabian V, Davis M, Jackson J, Christodoulou J, Kaufmann WE, Ravine D, Percy AK.  Early Progressive Encephalopathy in Boys and MECP2 Mutations.  Neurology 67:164-166,2006.

Kirby RS, Percy AK, Lane JB, Glaze DG, Skinner SA, MacLeod P, Barrish J, Annese F. Longevity in Rett Syndrome: Probing the North American Database. J Pediatr (under revision)

Kirby RS, Percy AK, Lane JB, Childers J, Skinner SA, Annese F, Barrish JO, Glaze DG, and MacLeod, P:  Longevity in Rett Syndrome: Analysis of the North American Database.  J Pediatr. 2010;156:135-8.  PMID: 19772971

Louise S, Bebbington A, Bahi-Buisson N, Anderson A, Pineda M, Percy A, Ben

Zeev B, Wu X-R, Bao X, MacLeod P, Armstrong J, Leonard H.  InterRett, a model

for international data collection in a rare genetic disorder. Res Aut Spectr Dis

2009, in press.

Marchand V, Motil KJ, NASPGHAN Committee on Nutrition.  Nutrition support for neurologically impaired children: a clinical report of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.  J Pediatr Gastroenterol Nutr 2006; 43:123-135.

Motil KJ, Schultz RJ, Abrams S, Ellis KJ, Glaze DG.  Fractional Calcium

Absorption is Increased in Girls with Rett syndrome.  J Ped Gastroenterology and

Nutrition 42:419-426, 2006.

Motil KJ, Ellis KJ, Barrish JO, Caeg E, Glaze DG.  Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome.  Pediatr Res 2008; 64:435-439.

Motil KJ, Morrissey M, Caeg E, Barrish JO, Glaze DG.  Gastrostomy placement improves height and weight in girls with Rett syndrome. J Pediatr Gastroenterol Nutr. 2009 Aug; 49(2):237-42.  PMID: 19525868

Neul JL, Maricich SM, Islam M, Barrish J, Smith EO, Bottiglieri T, Hyland K, Humphreys P, Percy A, Glaze D.  Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett Syndrome. Neurology 64:2151-2152, 2005.

Neul JL, Fang P, Barrish J, Lane J, Caeg E, Smith EO’B, Zoghbi HY, Percy A, Glaze DG.  Specific Mutations in Methyl-CpG-Binding Protein 2 Confer Different Severity in Rett Syndrome. Neurology 70:1313-1321,2008.

Percy A, Lane J.  Rett Syndrome: Model of Neurodevelopmental Disorders.  J Child Neurol 20:718-721, 2005.

 

Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, Caeg E, Glaze DG, MacLeod P. Rett Syndrome: North American Database. J Child Neurol 22:1338-1341,2007.

Percy AK.  Rett Syndrome: From Recognition to Diagnosis to Intervention.

Expert Review of Endocrinology & Metabolism 3:327-336,2008.

Percy AK, Lee, H-S, Lane JB, Geerts, SP, Skinner SA, Annese F, Graham J, McNair L, Neul JL, Motil KJ, Barrish JO, Glaze DG:  Profiling Scoliosis in Rett Syndrome.  Pediatr Res. 2010 Apr;67(4):435-9.PMID: 20032810

Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CMB, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY:  Autism and other Neuropsychiatric Symptoms Associated with MECP2 Duplication.  Ann Neurol. 2009 Dec; 66(6):771-782.  PMCID: PMC2801873 [Available on 2010/12/1]

Ramocki MB, Tavyev YV, Peters SU.  The MECP2 duplication syndrome.  Am J Med Genet Part A. 2010; 152 A:1079-1088.  PMID: 20425814

Rare Disease Consortium. Clinical Research for Rare Diseases: Opportunities,

Challenges, and Solutions. Mol Genet Metab in press, 2009.

Rudaz CG, Matagne V, Ronnekleiv O, Bosch M, Percy AK, Ojeda S.  FXYD1, a modulator of Na+,K+-ATPase activity, facilitates female sexual development by maintaining GnRH neuronal excitability. J Neuroendocrin 21:108-122,2009.

          Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, Hyland K, Thaller C, Maricich SM, Humphreys P, Greer JJ, Percy A, Glaze DG, Zoghbi HY, Neul JL. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc Natl Acad  Sci U S A. 2009 Dec 22;106(51):21966-71.  PMCID: PMC2799790 [Available on 2010/6/22]  

Tofil N, Buckmaster M, Callans B, Winkler M, Islam M, Percy A.  Deep sedation

with Propofol in patients with Rett syndrome. J Child Neurol 21:210-213, 2006.

Prader-Willi Syndrome

Abstracts/Presentations

Butler, M.G. (2008). Genetics of Prader-Willi syndrome. 1st Asia-Pacific Prader-Willi Syndrome Conference. March  1, 2008, Wellington, New Zealand.

Butler, M.G. (2008). Prader-Willi syndrome: Evidence of autism. 1st Asia-Pacific Prader-Willi Syndrome Conference.  March  2, 2008, Wellington, New Zealand.

Butler, M.G. (2008). Genetic subtype differences in Prader-Willi syndrome. Italian Auxological Institute -50th Anniversary Conference. May 8, 2008, Milan, Italy.

Butler, M.G., Kibiryeva, N., Fischer, W., & Bittel, D.C. (2008).  High resolution array comparative genomic  hybridization (aCHG) in individuals with Prader-Willi syndrome.  KUMC Faculty Research Day and Poster Session. November  6, 2008, Kansas City, Kansas.

Butler, M.G. (2008). Genetics of Prader-Willi syndrome. 1st Asia-Pacific Prader-Willi Syndrome Conference. March  1, 2008, Wellington, New Zealand.

Butler, M.G. (2008). Prader-Willi syndrome: Evidence of autism. 1st Asia-Pacific Prader-Willi Syndrome Conference.  March  2, 2008, Wellington, New Zealand.

Butler, M.G. (2008). Genetic subtype differences in Prader-Willi syndrome. Italian Auxological Institute-50th Anniversary Conference. May 8, 2008, Milan, Italy.

Butler, M.G., Kibiryeva, N., Fischer, W., & Bittel, D.C. (2008).  High resolution array comparative genomic hybridization (aCHG) in individuals with Prader-Willi syndrome.  KUMC Faculty Research Day and Poster Session, November  6, 2008, Kansas City, Kansas.

Butler, M.G., Scientific chairperson, organizer and attendee, 24th Annual Prader-

Willi Syndrome Scientific Conference,    Baltimore, Maryland, June 3-4, 2009

Butler, M.G., Scientific conference co-organizer and attendee, 1st International

Hyperphagia Conference, Baltimore, Maryland, June 4-5, 2009

Butler, M.G., Invited speaker, 20th Annual New York Alliance Meeting on Prader-

Willi Syndrome, (“Molecular Biology of Prader-Willi Syndrome”), Albany, NY, April

30, 2010.

Butler, M.G., Invited speaker, 20th Annual New York Alliance Meeting on Prader-

Willi Syndrome, (“the Genetics of Prader-Willi Syndrome”), Albany, NY, April 30,

2010.

Burnside, R.D., Butler, M.G., Pasion, R., Youngs, E.L., Jaswaney, V.L., Risheg,

H., Keitges, E., Gadi, I., Tepperberg, J.H., Schwartz, S. & Papenhausen, P.R.

(2010). Chromosomal microarray detection and phenotypic comparisons of

microdeletions and microduplications of the proximal 15q11-q13 region between

breakpoints BP1 and BP2.  2010 American College of Medical Genetics Annual

Clinical Genetics Meeting, March 26, 2010, Albuquerque, New Mexico.

Cassidy, S.B., McCandless, S.E., Driscoll, D.J. and Schwartz, S.:  Do Some People with Severe Prader-Willi Syndrome have two Microdeletion Syndromes?  David Smith Meeting, Greenwood, SC, August 2008. (Platform)

Driscoll, DJ. The NIH Rare Disease Clinical Research Network, First International Prader-Willi Syndrome Consensus Conference, Toulouse, France, October 26-28, 2006.

Driscoll, DJ. The Nutritional Phases of Prader-Willi Syndrome, First International Prader-Willi Syndrome Consensus Conference, Toulouse, France, October 26-28, 2006.

Driscoll, DJ. Neurocognitive Studies of Prader-Willi Syndrome and Early-onset Morbid Obesity, Medical Genetics Grand Rounds, Cambridge University, Cambridge, England, July 7, 2006.

Driscoll, DJ. Health Issues and Medical Interventions in Childhood for Prader-Willi Syndrome, Prader-Willi California Foundation annual meeting, Los Angeles, CA, October 25, 2007.

Driscoll, DJ. Overview of Prader-Willi Syndrome, Prader-Willi Syndrome Association (USA) National Meeting, Milwaukee, WI, July 2008.

Driscoll, DJ. Prader-Willi Syndrome, Genetics of Obesity section, American College of Medical Genetics meetings, Tampa, FL, March 25-29, 2009.

Driscoll, D. J. “Nutritional Phases in Prader-Willi Syndrome”, Invited Speaker,

American College of Medical Genetics, Tampa, FL, March 2009.

Driscoll, D.J. “Imprinting and Childhood Obesity:  The Prader-Willi Syndrome

Paradigm”  Invited Speaker, Joint Lawson Wilkins Pediatric Endocrinology and

European Society of Pedistaric Endocrinology meeting, New York City, September

2009.

Driscoll, D.J. “Clinical Issues”, Invited Speaker, First International Prader-Willi

Syndrome Research Strategy Workshop held in Bethesda, MD in November 2009.

Driscoll, D.J. “Update on Clinical and Genetic Issues in PWS”, Invited Speaker,

International PWS meeting, Taiwan, May 2010.

Driscoll, D.J. “Report of the Proceedings of the First International Prader-Willi

Syndrome Research Strategy Workshop”, Platform presentation, International

PWS meeting, Taiwan, May 2010.

 

Dykens, E.M.  New findings on behavioral strengths and problems in persons with Prader-Willi syndrome.  Keynote speech to the 28th Annual Prader-Willi Syndrome Scientific and Parent Conference, Grand Island, NY, July (2006).

Dykens, E.M.  Behavioural problems in Prader-Willi and Williams syndromes.  Invited talk to the International Jerome Lejeune Clinical Conference, Institut Pasteur, Paris, France, November (2006).

Dykens, E.M., Roof, E., Pantino, E., Johnson, R., & Bialik, M.  Prader-Willi syndrome: Toward a more balanced phenotype.  Symposium presented to the 40th Annual Gatlinburg Conference on Research and Theory in Intellectual and Developmental Disabilities, March (2007).

Dykens, E.M.  Strengths and weaknesses in people with Prader-Willi syndrome.  Invited keynote presentation to the 5th International Conference on Prader-Willi syndrome, Cluj, Romania, June (2007).

Dykens, E.M.  Effects of growth hormone treatment on young children with Prader-Willi syndrome.  Paper presented to the 30th Annual Scientific Conference of the Prader-Willi Syndrome, Milwaukee, WI, July (2008).

Dykens E.M. & Finucane, B.  Behavioral and psychiatric phenotypes in genetic syndromes: Implications for treatment.  Symposium presented to the 25th Annual NADD Conference, Ontario, Canada, November (2008).

Dykens, E.M.  (November, 2009).  Phenotypic and psychiatric complexities in Prader-Willi syndrome.  Invited talk to the University of Minnesota Futures Planning Consortium, Minneapolis, MN.

Dykens, E.M.  (December, 2009).  What’s new in intellectual and developmental

disabilities?  Pediatric Grand Rounds, Vanderbilt University, Nashville, TN.

Dykens, E.M., Lense, M., Roof, E., & Andreotti, C.  (March, 2010). Cortisol as a

biomarker of stress in developmental and medical disorders.  Symposium presented to the 43rd Annual Gatlinburg Conference on Research and Theory in Developmental Disabilities, Annapolis, MD.

Dykens, E.M.  (March, 2010).  Interdisciplinary Approaches to phenotypic work: Lessons learned from Prader-Willi and Williams syndromes.  Invited keynote to the 1st Intellectual and Developmental Disability Gatlinburg Training Pre-Conference, Annapolis, MD.

Dykens, E.M. (April, 2010).  Prader-Willi syndrome: Relations to autism spectrum disorder.  Invited talk to the Keystone Symposium, Towards defining the pathophysiology of autistic behavior.  Snowbird, UT.

Gold JA, Ruth C, Kimonis V. Studies of the frequency of assisted reproductive

technology (ART) births and twinning in Prader Willi syndrome. American society

of Human Genetics meetings, Honolulu, HI, October 2009.

Holsen, L., Bruce, A., Butler, M.G., Zarcone, J., Brooks, W., Martin, L., &

Savage, C. (2010). Comparison of reward an inhibitory circuitry in Prader-Willi

Syndrome an simple obesity. Obesity 2010, 28th Annual Scientific Meeting,

October 8, 2010, San Diego, California.

Kim, S-J., Miller, J.L., Kuipers, P.J., German, J.R., Beaudet, A.L., Sahoo, T. and Driscoll, D.J.: Unique Deletions in Prader-Willi Syndrome.  Prader-Willi Syndrome Association 2008 Meeting, Milwaukee, WI, July 2008. (Platform)

 

Miller, J.L. and Driscoll, D.J.: Changes in head circumference with growth hormone therapy in individuals with PWS.  Prader-Willi Syndrome Association 2008 Meeting, Milwaukee, WI, July 2008. (Platform)

Schwenk, K.A., Miller, J.L., Kranzler, J.H. and Driscoll, D.J.:  Prader-Willi

Syndrome and Others with Early-Onset Morbid Obesity Share Similar Strengths in

Cognition and Achievement.  International Prader-Willi Syndrome Organization

2007 Conference, Cluj, Romania, June 2007. (Platform)

 

Schwenk, K.A., Miller, J.L., Kranzler, J.H., Lynn, C.H. and Driscoll, D.J.:  Factors Effecting Cognitive and Achievement Abilities in Prader-Willi Syndrome.  Prader-Willi Syndrome Association 2008 Meeting, Milwaukee, WI, July 2008. (Platform)

St. John J, Gold J-A, Osann, P. Flodman, S. Cassidy, & V. Kimonis. Molecular

Subtype and Growth Hormone Effects on Dysmorphology in Prader-Willi

Syndrome, American College Medical Genetics. April 2010. Albuquerque, NM.

 

Chapters/Reviews

Bittel, D.C. & Butler, M.G. (2008). Clinical genetics, gene expression and imprinting in Prader-Willi syndrome: Invited Review. In:  New Encyclopedia of Neuroscience, L.R. Squire (ed.), Academic Press, Oxford, England.

Butler, M.G., Jacobsen, D., Smith, B.K., & Donnelly, J. (2005). Genetics and obesity: Prader-Willi syndrome, an illustrative example. In: Focus on Obesity Research, P.R. Ling (ed.), Nova Science Publishers, Inc. Hauppauge, NY.  pp. 51-88.

Butler, M.G.  (2005). Prader-Willi syndrome: An example of genomic imprinting.  In: Genetics of Developmental Disabilities, 1st ed., M.G. Butler  & F.J. Meaney (eds.), Taylor & Francis, Boca Raton, FL. pp. 279-318.

Butler, M.G., Lee, P.D.K. & Whitman, B.Y. (2006). Management of Prader-Willi Syndrome, 3rd ed., M.G. Butler, P.D.K. Lee & B.Y. Whitman (eds.), Springer-Verlag Publishers, New York, NY. pp. 1-550.

Butler, M.G., Hanchett, J., & Thompson, T.  (2006). Clinical findings and natural history of Prader-Willi syndrome.  In: Management of Prader-Willi Syndrome, 3rd ed., M.G. Butler, P.D.K. Lee & B.Y. Whitman (eds.), Springer-Verlag Publishers, New York, NY. pp. 3-48.

Butler, M.G., Welch, J., Riske, M., Vogel, R., Troxell, R., Rope, A. (2009). Prader-Willi Syndrome Website Module (www.medicalhomeportal.org:9090/diagnoses-and-conditions/prader-willi-syndrome/)

Butler, M.G. & Garg, U. (2009). Cortisol levels in Prader-Willi syndrome support changes in routine care. Am. J. Med. Genet. 149A:138-139.

Butler, M.G., Brandau, D.T., Theodoro, M., & Garg, U. (2009).  Daytime melatonin levels in Prader-Willi syndrome. Am. J. Med. Genet., in press.

Butler, M.G. (2009). Genomic imprinting disorders in humans: A mini-review. J. Assist. Reprod. Genet. 9-10:477-486.

 

Butler, M.G. & Meaney, F.J. (in press). Growth in Prader-Willi syndrome:

Anthropometric Patterns and Analysis. In: Handbook of Growth and Growth

Monitoring in Health and Disease, V.R. Preedy (ed.), Springer, New York

 

Butler, M.G. (in press). Known Clinical Epigenetic Disorders with an Obesity

Phenotype: Prader-Willi Syndrome and the GNAS Locus. In: Obesity Before Birth,

R. Lustig (ed.), Springer, New York.

Cassidy, S.B. and Driscoll, D.J.:  Prader-Willi Syndrome.  Eur J. Hum Genet 17: 3-13, 2009.

Goldstone, A.P., Holland, A.J., Hauffa, B.P., Hokken-Koelega, A.C., Tauber, M., Accadbled, F., Cavaille, J., Roge, B., Sales de Gauzy, J., Blichfeldt, S., Butler, M.G., Carrel, A.L., Chiumello, G., Curfs, L.M., Schrander-Stumpel, C.T.,  Driscoll, D.J.,  Miller, J.L.,  Gourash, L.M.,  Nicholls, R.D.,  Grugni, G., Heinemann, J.,  Hoybye, C.,  Lindgren, A.C.,  Ritzen, M.,  Muscatelli, F.,  Nagai, T.,  Nijhuijs, M.W., Odent, T.,  Schluter, B., Soni, S., Whittington, J., Swaab, D.F., Thuilleaux, D., Vogels, A., Whitman, B.Y., &  Wilton, P.:  Recommendations for the diagnosis and management of Prader-Willi syndrome.   J. Clin. Endocrinol. Metab. 93:4183-4197, 2008.

Hodapp, R.M., & Dykens, E.M.  Behavioural phenotypes: Growing understandings of psychiatric disorders in individuals with disabilities.  In N. Bouras & G. Holt (Eds.), Psychiatric and behavioural disorders in developmental disabilities (2nd edition) (pp. 202-214).  Cambridge: Cambridge University Press.  (2007). 

Hodapp, R.M., & Dykens, E.M.  (in press).  Behavioral effects of genetic mental retardation disorders.  In J.W. Jacobson & J.A. Mulick (Eds.), Handbook of Mental Retardation and Developmental Disabilities,  New York: Kluwer Academic/Plenum Press. Zeanah (Ed.), Handbook of Infant Mental Health.

Holsen, L.M., Zarcone, J.R., Chambers, R., Butler, M.G., Bittel, D., Brooks, W.M., Thompson, T.I. & Savage, C. R. (2009).  Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome. International. Int. J. Obes (Lond). 33:273-283.

Levitas, A., Dykens, E.M., Finucane, B.M., & Kates, W.  Behavioral phenotypes.  In R. Fletcher, E., Loschen, C. Stavrakaki, & M. First (Eds.). Diagnostic Manual-Intellectual Disability: A textbook of diagnosis of mental disorders in persons with intellectual disability (pp. 33-62).  Kingston, NY: NADD Press.  (2007). 

 

McCune, H. and Driscoll, D.J.:  Prader-Willi Syndrome.  In Pediatric Nutrition in Chronic Diseases and Developmental Disorders, (S.W. and V.K. Ekvall, Eds.), Oxford University Press, Oxford, UK, pp. 128-132, 2005.

Volkmar, F., Dykens, E.M., & Hodapp, R.M.  (in press).  Mental retardation.  In A. Martin & F. Volkmar (EDs.), Lewis Child and Adolescents Psychiatry, 4th Edition. 

Williams CA and Driscoll, DJ (updated March 2008) Angelman Syndrome in: GeneReviews at GeneTests: Medical Genetics Information Resource. Univ. of Washington, Seattle. 1997-2008. Available at http://www.genetests.org.

 

Original Papers

Bittel, D.C., & Butler, M.G. (2005). Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev. Mol. Med. 7(14):1-20.

Bittel, D.C., Kibiryeva, N., & Butler, M.G. (2006).  Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. Pediatrics 118(4):e1276-1283.

Bittel, D.C., Kibiryeva, N., McNulty, S.G., Driscoll, D.J., Butler, M.G. & White, R.A. (2006).  Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome.  Am J. Med Genet A. Oct 11; [Epub ahead of print]. 

Bittel, D.C., Kibiryeva, N., Sell, S.M., Strong, T.V., & Butler, M.G. (2007).  Whole genome microarray analysis of gene expression in Prader-Willi syndrome. Am. J. Med. Genet. Jan 18; [Epub ahead of print].

Bittel, D.C., Kibiryeva, N., McNulty, S.G., Driscoll, D.J., Butler, M.G., & White, R. A. (2007).  Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome.  Am. J. Med. Genet. A. 143(5):422-429.

Bittel, D.C., Kibiryeva, N., & Butler, M.G. (2007).  Methylation-specific multiplex ligation-dependent probe amplification (MLPA) analysis of subjects with chromosome 15 abnormalities. Genet. Test. 11(4):467-475.

Brandau, D.T., Theodoro, M., Garg, U., & Butler, M.G. (2008).  Follicle stimulating and leutinizing hormones, estradiol and testosterone in Prader-Willi syndrome.  Am. J. Med. Genet. A. 146:655-669.

Butler, M.G., Bittel, D.C., Kibiryeva, N., & Garg, U. (2006).  C-reactive protein levels in subjects with Prader-Willi syndrome and obesity.  Genet. Med. 8:243-248.

Butler, M.G. (2006).  Management of obesity in Prader-Willi syndrome.  Nat. Clin. Pract. Endocrinol. Metab. 2:592-593.

Butler, M.G., Theodoro, M.F., Bittel, D.C., Kuipers, P.J., Driscoll, D.J., & Talebizadeh, Z. (2006).  X chromosome inactivation patterns in females with Prader-Willi syndrome.  Am. J. Med. Genet. October 11; [Epub ahead of print].

Butler, M.G., Theodoro, M.F., Bittel, D.C., & Donnelly, J.E. (2006).  Energy expenditure and physical activity in Prader-Willi syndrome: Comparison with obese subjects.  Am. J. Med. Genet. November 13; [Epub ahead of print].

Butler, M.G., & Bittel, D.C. (2007).  Plasma obestatin and ghrelin levels in subjects with Prader-Willi syndrome.  Am. J. Med. Genet. A. 143(5):415-421.

Butler, M.G., Theodoro, M., & Skouse, J.D. (2007).  Thyroid function studies in Prader-Willi syndrome. Am. J. Med. Genet. A. 143(5):488-492.

Butler, M.G., Fischer, W., Kibiryeva, N., & Bittel, D.C. (2008).  Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome, Am. J. Med. Genet. A. 146:854-860.

Butler MG, Sturich J, Myers SE, Gold JA, Kimonis V, Driscoll DJ: Is gestation in Prader-Willi syndrome affected by the genetic  subtype?  J Assist Reprod

Genet 26:461-6, 2009.

Butler, M.G., Bittel, D.C., Kibiryeva, N., Cooley, L.D. & Yu, S. (2010). An interstitial 15q11-q14 deletion: Expanded Prader-Willi syndrome phenotype. Am. J. Med. Genet. 152A:404-408.

Dykens, E.M., Maxwell, M., Pantino, E., Kossler, R., & Roof, E.  Assessment of hyperphagia in Prader-Willi syndrome.  Obesity, 15, 1816-1826 (2007).

Dykens, E.M., & Roof, E.  Behavior in Prader-Willi syndrome: Relationship to genetic subtypes and age.  Journal of Child Psychology and Psychiatry, 49, 1001-1008 (2008).

Hartley, S., MacLean, W., Butler, M.G., Zarcone, J., & Thompson, T. (2005). Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Will syndrome.  Am. J. Med. Genet. 136A:140-145.

Henkhaus, R.S., Bittel, D.C. & Butler, M.G. (in press). TPH2 polymorphisms

and expression in Prader-Willi syndrome: Participants with differing genetic

subtypes. J. Neurodev Disord.

Holsen, L.M., Zarcone, J.R., Brooks, W.M., Butler, M.G., Thompson, T.I., Ahluwalia, J.S., Nollen, N.G., & Savage, C.R. (2006).  Neural mechanisms underlying hyperphagia in Prader-Willi syndrome.  Obesity 14:1028-1037.

Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, Shaffer LG, Beaudet AL. Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. BMC Genomics. 9:50 (2008). 
 

Kennedy, L., Bittel, D.C., Kibiryeva, N, Kalra, S.P., Torto, R., & Butler, M.G. (2006).  Circulating adiponection levels, body composition and obesity-related variables in Prader-Willi syndrome: comparison with obese subjects.  Int. J. Obesity 30:382-387. 

 

Key, A.P.F., & Dykens, E.M.  (2008).  Hungry eyes: Visual processing of food images in adults with Prader-Willi syndrome.  Journal of Intellectual Disability Research, 52, 536-546. 

Khalil, A.M. and Driscoll, D.J.: Trimethylation of histone H3 lysine 4 is an

epigenetic mark at regions escaping mammalian X inactivation.  Epigenetics,

2:114-118, 2007.  (Cover Article)

Miller J, Kranzler J, Liu Y, Schmalfuss I, Theriaque DW, Shuster JJ, Hatfield  A, Mueller OT, Goldstone AP, Sahoo T, Beaudet AL, Driscoll DJ. Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity. J Pediatr. 149(2):192-8 (2006). 

Miller, JL, Silverstein, J, Shuster, J, Driscoll, D.J., and Wagner, M.:  Short-term

effects of growth hormone on sleep abnormalities in Prader-Willi syndrome.

JCEM 91:413-7, 2006.

Miller J, Couch J, Schmalfuss I, He G, Liu Y, and Driscoll DJ  Intracranial

abnormalities detected by three dimensional magnetic resonance imaging in

Prader-Willi syndrome.  Am J. Med. Genet. A., 143:476-83, 2007.

Miller J, James GA, Goldstone A, Couch JA, He G, Driscoll DJ, Liu Y.

Enhanced activation in the orbitofrontal cortex in Prader-Willi syndrome in

response to food stimuli.  J Neurol Neurosurg Psychiatry 78:615-9, 2007.

Miller JL, Couch JA, Leonard CM, Schwenk K, Towler SD, Shuster J, Goldstone

AP, He G, Driscoll DJ, Liu Y:  Sylvian fissure morphology in Prader-Willi

syndrome and early-onset morbid obesity.  Genetics in Medicine, 9:536-43, 2007.

Miller J, Goldstone, AP., Couch JA, Shuster J , He G, , and Driscoll DJ, Liu Y,

and Schmalfuss I: Pituitary abnormalities in Prader-Willi syndrome and early-onset morbid obesity. Am J. Med. Genet. A., 146:570-77, 2008.

Miller J, Shuster J, Driscoll DJ, Wagner M.  Sleep-Disordered Breathing in

Infants with Prader-Willi syndrome during the first six weeks of growth

hormone therapy: A pilot study.  J Clin Sleep Med 15;5:448-53, 2009.

Rodriguez-Jato, S.*, Nicholls, R.D., Driscoll, D.J. and Yang, T.P.:

Characterization of cis- and trans-acting elements in the imprinted human

SNURF-SNRPN locus. Nucleic Acids Research 33:4740-4753, 2005.

Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet. 40(6):719-21 (2008).
 

Scheimann, A.O., Butler, M.G., Gourash, L., Cuffari, C., & Klish, W. (2008).  Critical analysis of bariatric procedures in Prader-Willi syndrome.  J. Pediat. Gastroenterol. Nutr. 46(1):80-83.

Schiemann, A.O. & Butler, M.G. (2008). Efficacy of laparoscopic sleeve gastroectomy as a stand alone technique for children with morbid obesity and bioenterics intragastric balloon for treatment of morbid obesity in Prader-Willi syndrome: Specific risks and benefits. Obesity Surg.,  Nov 4. [Epub ahead of print]

Scheimann, A.O., Butler, M.G., Gourash, L., Cuffari, C., & Klish, W. (2008).  Critical analysis of bariatric procedures in Prader-Willi syndrome.  J. Pediatr. Gastroenterol. Nutr. 46(1):80-83.

 

Sellinger, M. H., Hodapp, R.M., & Dykens, E.M.  (2006).  Leisure activities in individuals with Prader-Willi, Williams, and Down syndromes.  Journal of Developmental and Physical Disabilities, 18, 59-71.

Shapira, N.A.***, Lessig, M.A., He, A.G., James, G.A., Driscoll, D.J. and Liu, Y.:

Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI.  J. of

Neurology, Neurosurgery & Psychiatry, 76:260-262, 2005.

Shapira, N.A.***, Lessig, M.A., Lewis, M.H., Goodman, W.K. and Driscoll, D.J.:

Effects of topiramate in adults with Prader-Willi syndrome. Am. J. Mental

Retardation, 109:301-9, 2004.

Stevenson, D.A., Heinemann, J., Angulo, M., Butler, M.G., Loker, J., Rupe, N., Kendell, P., Clericuzio, C., & Scheimann, A. (2007).  Deaths due to choking in Prader-Willi syndrome.  Am. J. Med. Genet. A. 143(5):484-487.

Stevenson, D. A., Heinemann, J., Angulo, M., Butler, M.G., Loker, J., Rupe, N., Kendell, P., Cassidy, S.B., & Scheimann, A. (2007). Gastric rupture and necrosis in Prader-Willi syndrome. J. Pediat. Gastroenterol. Nutr. 45(2):272-274.

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Talebizadeh, Z. & Butler, M.G. (2005). Insulin resistance and obesity related factors in Prader- Willi syndrome:  Comparison with obese subjects.  Clin. Genet. 67:230-239.

Talebizadeh, Z., Kibiryeva, N., Bittel, D.C., & Butler, M.G. (2005). Ghrelin, peptide YY and their receptors:  gene expression in brain from subjects with and without Prader-Willi syndrome. Int. J. Mol. Med. 15:707-711.

 

Talebizadeh, Z., Simon, S.D., & Butler, M.G. (2006).  X chromosome gene expression in human tissues: Male and female comparisons.  Genomics 88:675-681.

Theodoro, M.F., Talebizadeh, Z., & Butler, M.G. (2006).  Body composition and fatness patterns in Prader-Willi syndrome: Comparison with simple obesity.  Obesity 14:1685-1690. 

Verdine, B.N., Troseth, G.L., Hodapp,, R.M., & Dykens, E.M.  (2008). Strategies and correlates of jigsaw puzzle and visual-spatial performance in persons with Prader-Willi syndrome and matched controls.  American Journal on Mental Retardation, 113, 343-355.

Young, J., Zarcone, J., Holsen, L., Anderson, M., Hall, S., Richman, D., Butler, M., & Thompson, T.  (2006).  Measure of food seeking in Prader-Willi syndrome.  J. Intellect. Disabil. Res. 50:18-24.

Zarcone, J., Napolitano, D., Peterson, C., Breidbord, J., Ferraioli, S., Caruso-Anderson, M., Holsen, L., Butler, M.G., & Thompson, T. (2007).  The relationship of compulsive behavior to academic achievement in individuals with Prader-Willi syndrome.  J. Intellect. Disabil. Res.  51:478-487.

Trainees: Trainees have been actively involved in each disease-related consortium.  AS: ShenFeng Qiu (UCSD); Wen-Hann Tan (Harvard);

Althea Robinson (Vanderbilt); Julie Davidson (Vanderbilt) RTT: Amanda Lamb (National Human Genome Research Institute); Daniel Tarquinio (UAB); Chelsea Magee (UAB); Graeme McFarland (UAB); PWS: Terry Jo Bichell (Vanderbilt);

Douglas Bittel (Children’s Mercy Hospital); June-Anne Gold (UCI); Soo

Kim (Florida); Jennifer Miller (Florida); Heather Newkirk (Children’s

Mercy Hospital); Krista Schwenk (Florida); Hailing Su (UCI);  Zohreh

Talebizadeh (Children’s Mercy Hospital); Rebecca Henkhaus (Kansas University); Puya Yazdi (UCI).  More complete descriptions are listed below.

Terry Jo Bichell has been accepted into the Neurosciences PhD program at Vanderbilt University, to matriculate in August, 2009, with the express purpose of pursuing studies leading to translational therapeutic approaches to Angelman and Prader-Willi syndromes.

 

Douglas Bittel, PhD: Dr. Bittel has worked closely with Dr. Butler in research on Prader-Willi syndrome and related conditions.  From 2004 to present, he participated in 26 publications and book chapters, 4 published abstracts and 50 presentations at national and international meetings.

Julie Davidson, PhD:  Dr. Davidson is a clinical psychologist working under the mentorship of Dr. Sarika Peters at Vanderbilt.  Dr. Davidson is utilizing current psychological instruments to assess the spectrum of autistic features in AS, RTT, and the MECP2-duplication disorder.

June-Anne Gold, MD: Dr. Gold is a Genetics fellow working intimately on the evaluation of the subjects for this project at UCI. 

 

Rebecca Henkhaus, PhD:  Dr. Henkhaus is a molecular biologist working with Dr. Butler at Kansas University on the molecular genetics of PWS and AS in order to develop advanced technologies for delineating various mutation classes within the chromosome 15q11-13 region for these two disorders.  This delineation is crucial to sorting phenotypic differences in PWS and AS.

Soo Kim:  Dr. Kim works with Dr. Driscoll as part of the Prader-Willi consortium studies and has publications as the result of this training as well as a K23 award (K23 MH082883).

Amanda Lamb:  Ms Lamb is a genetic counseling student at the National Human Genome Research Institute studying coping skills in families with a child with Rett syndrome.  The objective of this study is to gain better insight into how the individual cognitive appraisals (thoughts that assess the circumstances) of perceived illness burden and self-efficacy and methods of coping are associated with family functioning and the adaptation of a caregiver of an individual with Rett Syndrome.  She will be recruiting through the PI’s clinic (Dr. Alan Percy) and will be sending the surveys including postage to Jane Lane, the Research Nurse Manager and Clinical Coordinator in Dr. Percy’s Rett Syndrome Clinic. 

Chelsea Magee:  Ms. Magee conducted a survey under Dr. Percy’s mentorship among siblings of individuals with Rett syndrome regarding the potential for differential impact of affected individuals on the quality of life of younger or older siblings.  Interestingly, the siblings reported no difference regardless of birth order.

Graeme McFarland:  Mr. McFarland is a fourth year medical student at UAB who devoted his research block to an analysis of MECP2-related duplication disorder in males based on literature survey and participants in the RDCRC with respect to size of duplication and clinical characteristics in an effort to correlate these features with genes other than MECP2 included within the duplicated segment.  Graeme will present the results in poster format at the September, 2010 RDCRN training meeting.

Jennifer Miller:  Dr. Miller trained with Dr. Driscoll as part of the Prader-Willi consortium studies and has several publications as the result of this training as well as a K23 award (K23 DK081203).

 

Heather Newkirk, PhD: Dr. Newkirk established and performed new genetic testing  protocols for identification of imprinting defects and atypical deletions along with  expression of imprinted genes/transcripts in the  15q11-q13 region in individuals with confirmed  Prader-Willi syndrome and those suspected to have this diagnosis by using microsphere technology and quantitative microsphere hybridization with the Luminex system. Her research led to 2 publications and 2 presentations at meetings related to this activity during the past two years.

 

ShenFeng Qiu:  Traineeship 2007-2009:  Resolving role of CaMKII activity in single neurons in a mouse model of Angelman Syndrome.  This research will be conducted collaboratively with Dr. Roger Colbran and the graduate student in his lab, Richard Gustin, whose Ph.D. thesis project was on AS and CaMKII misregulation.

Althea Robinson, MD:  Dr. Robinson is a neurology resident at Vanderbilt working on sleep dysfunction in Angelman and Prader-Willi syndromes.  This project will complement the sleep disorder pilot study involving all three disorders.

Krista Schwenk, M.Ed. is a doctoral student in Educational Psychology working with Dr. Driscoll as her major advisor.  She has been intimately involved in administering the various cognitive and behavioral tests as part of this RDCRN project and has presented her findings the last 3 years at the national PWSA (USA) Scientific meeting.

Hailing Su, MD, PhD: Dr. Su is a postdoctoral fellow in Dr. Kimonis’ lab where she has a RDCRN training fellowship to explore potential mitochondrial dysfunction in mouse models of PWS.

 

Zohreh Talebizadeh, PhD: Dr. has primarily focused on the genetics of autism and behavior problems as relating to Prader-Willi syndrome and similar conditions. From 2004 to present, she participated in 18 publications and book chapters, 3 published abstracts and 24 presentations at national and international meetings.

Wen-Hann Tan: To me, the RDCRN funding has provided me, as a new investigator, with: 1. An introduction and a career path into clinical research -- and this would include the opportunity to apply for a formal training program in clinical and translational research like the CITP. Without this project and the RDCRN, I would not have gotten into the Program; 2. A practical means of learning how to set up and manage a clinical research project; 3.   The opportunity to obtain independent research funding and develop a career as a clinical researcher – without this project, I would not have been able to (re-)apply for a R01 from the FDA.  As part of Dr. Tan’s involvement, a levodopa trial resulted from the RDCRN setup and support and justified funding from the Angelman Syndrome Foundation and from Children’s Hospital Boston faculty development office. Thanks to RDCRN support, we currently hold an active IND for a phase 1/2 clinical trial.

Daniel Tarquinio:  Dr. Tarquinio spent one year with the Rett syndrome project under Dr. Percy and established comprehensive growth data (height, weight, head circumference, and BMI).  This work resulted in a poster presentation at the Rare Disease trainees meeting in Bethesda in 2007 and at the Child Neurology Society 2008 annual meeting, and a platform presentation at the American Academy of Neurology 2009 61st annual meeting.  This work has been selected as well for the "Combined Scientific Topic Highlights" at this meeting.  Dr. Tarquinio is now pursuing a Child Neurology residency in Boston.


Puya Yazdi, MD:  Dr. Yazdi is working with Dr. Virginia Kimonis at UCI to examine the genotype-phenotype relationships in PWS and to assess the role of mitochondrial dysfunction in the pathophysiology of PWS.  He will accomplish the latter utilizing the mouse Snrpn-Ube3a deletion model of PWS.

Last updated:  9/3/10