- depressed general cognitive functioning or IQ;
- processing deficits including short term memory;
- language processing deficits; and
- difficulty with higher order processing.
- visual perception,
- organization, and
- puzzle-solving skills.
- need for sameness,
- obsessive-compulsive behavior, and/or
- autistic spectrum disorder.
Recent evidence of clinical and behavioral differences in PWS subjects with the type I (larger) and type II (smaller) 15q11-q13 deletion subtypes in PWS have been reported and also between those with the typical 15q11-q13 deletion and maternal disomy 15 (both 15s from the mother). [Butler: 2004] [Bittel: 2006]
Genetics in Primary Care Institute (AAP)
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|Author:||Merlin G. Butler, MD, PhD - 9/2008|
|Reviewing Author:||Kyna Byerly, MS, CGC - 8/2008|
|Content Last Updated:||2/2015|
Bittel DC, Kibiryeva N, Butler MG.
Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome.
Pediatrics. 2006;118(4):e1276-83. PubMed abstract
Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T.
Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy.
Pediatrics. 2004;113(3 Pt 1):565-73. PubMed abstract / Full Text
Butler MG, Lee PDK, Whitman, BY.
Management of Prader-Willi Syndrome.
3rd ed. New York, NY: Springer Verlag Inc.; 2006. 0387253971
Textbook with diagnosis and management information for PWS. Includes clinical, genetic, social, family, and community issues.
Dykens EM, Roof E.
Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age.
J Child Psychol Psychiatry. 2008;49(9):1001-8. PubMed abstract
Holsen LM, Zarcone JR, Brooks WM, Butler MG, Thompson TI, Ahluwalia JS, Nollen NL, Savage CR.
Neural mechanisms underlying hyperphagia in Prader-Willi syndrome.
Obesity (Silver Spring). 2006;14(6):1028-37. PubMed abstract / Full Text
Jauregi J, Arias C, Vegas O, Alén F, Martinez S, Copet P, Thuilleaux D.
A neuropsychological assessment of frontal cognitive functions in Prader-Willi syndrome.
J Intellect Disabil Res. 2007;51(Pt 5):350-65. PubMed abstract
Reddy LA, Pfeiffer SI.
Behavioral and emotional symptoms of children and adolescents with Prader-Willi Syndrome.
J Autism Dev Disord. 2007;37(5):830-9. PubMed abstract
Shapira NA, Lessig MC, He AG, James GA, Driscoll DJ, Liu Y.
Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI.
J Neurol Neurosurg Psychiatry. 2005;76(2):260-2. PubMed abstract / Full Text
Torrado M, Araoz V, Baialardo E, Abraldes K, Mazza C, Krochik G, Ozuna B, Leske V, Caino S, Fano V, Chertkoff L.
Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): an interdisciplinary study.
Am J Med Genet A. 2007;143(5):460-8. PubMed abstract
Yamada K, Matsuzawa H, Uchiyama M, Kwee IL, Nakada T.
Brain developmental abnormalities in Prader-Willi syndrome detected by diffusion tensor imaging.
Pediatrics. 2006;118(2):e442-8. PubMed abstract
Zarcone J, Napolitano D, Peterson C, Breidbord J, Ferraioli S, Caruso-Anderson M, Holsen L, Butler MG, Thompson T.
The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader-Willi syndrome.
J Intellect Disabil Res. 2007;51(Pt. 6):478-87. PubMed abstract