Travis Thompson, Pediatrics
"Prader Wiili Syndrome and Autism: Searching for Endophenotypes"
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     Understanding gene-brain-behavior causal sequences will likely arise from studying endophenotypes. Gottesman and Shields (1967) argued that specific physical features (often physiological or neurochemical) that uniquely covary with the clinical syndrome, are most likely to be productive in unraveling these relationships. Prader Willi Syndrome and Autism are two developmental disabilities with common behavioral phenotypic and neurocognitive processing features, as well as shared involvement of one or more genes in the 15q11-q13 region (e.g. GABR3), corresponding to the AUTS4 locus.  Behavioral phenotypes and neurocognitive processing phenotypes of PWS and Autism will be compared, with suggestions of common and differing endophenotypes distinguishing the two disabilities.

Readings

• Thompson, T. and Butler, M.G. (2004). Prader Willi Syndrome: Clinical Behavior and Genetic Findings. In M.C. Wolraich (Ed) Disorders of Learning and Behavior: A Practical Guide to Assessment and Management. Hamilton,
  Ontario: B.C. Decker, Inc.
  
  
• Thompson, T. (2005) Paul E. Meehl and B. F. Skinner: Autitaxia, Autitypy and Autism  Behavior and Philosophy, 33, 101-131.
  download 321kb pdf
  
  
• Bernstein, G.A., Hughes, J.R., Mitchell, J.E., & Thompson, T. (1987).  Effects of narcotic antagonists on self-injurious behavior. Journal of the American Academy of Child Psychiatry, 26, 886-889.
  
  
• Butler, M.G., Bittel, D.C, Kibiryeva, N., Talebizadeh, and Thompson, T. (2004) Behavioral differences among subjects with Prader Willi Syndrome and Type I or Type II Deletion and Maternal Disomy.  Pediatrics, 113, 1-9.
  
  
• Butler, M.G., Carlson, MG. Schmidt, D.E., Feurer, I.D. and Thompson, T. (2000) Plasma cholecystokinin (CCK) levels in Prader-Willi syndrome and obese subjects. American Journal of Medical Genetics, Nov 6; 95(1): 67–70.
  
  
• Dimitropolous, A, Blackford, J., Walden, T. and Thompson, T. (2006) Compulsive behavior in Prader-Willi syndrome: examining severity in early childhood. Res Dev Disabil. 27:190-202.
  
  
• Dimitropoulos, A., Feurer, I., Butler, M., & Thompson, T. (2001). Emergence of compulsive behavior and tantrums in children with Prader-Willi syndrome. American Journal on Mental Retardation, Jan 106(1): 39–51.
  
  
• Dimitropoulos, A, and Schultz, R.T. (2007) Autistic-like symptomatology in Prader-Willi syndrome: a review of recent findings.  Curr Psychiatry Rep. 9:159-64.
  
  
• Ebert, M. H., Schmidt, D. E., Thompson, T., & Butler, M. G.  (1997).  Elevated plasma gamma-amino butyric acid (GABA) levels in individuals with Prader-Willi or Angelman Syndromes.  Journal of Neuropsychiatry and Clinical Neurosciences, 9(1), 73-80.
  
  
• Glahn, D.C., Thompson, P.M. and Blangero, J. (2007) Neuroimaging endophenotypes: strategies for finding genes influencing brain structure and function. Hum. Brain Mapp. 28:288-501.
  
  
• Gottesman, II, Shields J (1967) A polygenic theory of schizophrenia.  Proc Natl Acad Sci USA. 58:199–205
  
  
• Hartley S.L., MacLean W.E., Butler M.G., Zarcone J., & Thompson T. (2005) Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome. American Journal of Medical Genetics 136, 140-45.
  
  
• Holsen, L. and Thompson, T. (2004). Compulsive behavior and eye blink in Prader-Willi syndrome. American Journal on Mental Retardation: 109: 197–207.
  
  
• Holsen, LM, Zarcone, JR, Brooks, WM, Butler, MG, Thompson, T, Ahluwlia, JS, Nollen, NL and Savage, CR. (2006) Neural mechanisms underlying hyperphagia in Prader-Willi syndrome. Obesity (Silver Spring). 14:1028-37
  
  
• Joseph, B., Egli, M., Koppekin, A. and Thompson T. (2002) Food choice in people with Prader-Willi syndrome: Quantity and relative preference. American Journal on Mental Retardation, Vol. 107(2): 128–135.
  
  
• Joseph, B., Overmier, J.B., & Thompson, T., (1997).  Food and nonfood related differential outcomes in equivalence learning by adults with Prader-Willi syndrome.  American Journal on Mental Retardation,  101(4),  374-386.
  
  
• Joseph, B., Sutcliffe, J., Egli, M. and Thompson, T. (2000) Possible dosage effect of maternally expressed genes on visual recognition memory in Prader-Willi syndrome. American Journal of Medical Genetics, 105, 71–75.
  
  
• Schultz, R.T. (2005) Developmental deficits in social perception in autism: the role of the amygdala and fusiform face area. Int. J. Developmental Neuroscience. 23:125-41.
  
  
• Symons, F., Davis, M., Feurer, I., & Thompson, T.  (2000).  Sleep irregularities among people with mental retardation and self injury.  Journal of Intellectual Disabilities Research. 
  
  
• Symons, F. J., Fox, N. D., Thompson, T. (1998).  Functional communication training and naltrexone treatment of self-injurious behavior:  an experimental case report.  Journal of Applied Research and Intellectual Disabilities  (11) 3,  pp. 273-292
  
  
• Symons, F., Thompson, T., Sanders, M., Feurer, I., & Butler, M.  (1999).  Skin picking by people with Prader Willi syndrome: Behavioral forms and body locations.  American Journal on Mental Retardation., 104, 260-269.
  
  
• Thompson, T. (2005) Paul E. Meehl and B. F. Skinner: Autitaxia, Autitypy and Autism  Behavior and Philosophy, 33, 101-131.
  
  
• Thompson, T. (2007) Making Sense of Autism. Baltimore: Paul H. Brookes Publishing Co.
  
  
• Thompson, T., Hackenberg, T., Cerutti, D., Baker, D., & Axtell, S. (1994).  Opioid antagonist effects on self-injury: Response form and location as determinants of medication effects. American Journal on Mental Retardation, 99, 85-102.
  
  
• Thompson, T., Symons, F., Delaney, D., & England, C.  (1995).  Self-injurious behavior as endogenous neurochemical self administration. Mental Retardation and Developmental Disabilities Research Reviews, 1(2) 137-148.
  
  
• Veenstra-VanderWeele, J. and Cook, E.H., (2004) Molecular genetics of autism spectrum disorder. Molecular Psychiatry. 9, 819–832