Abstract
Prader-Willi (PWS) syndrome is a genetically determined, complex, neurodevelopmental disorder characterized by a specific behavioral phenotype. The condition is best known as a syndromic cause of hyperphagia, resulting in early onset morbid obesity and consequent premature death, if the condition is not diagnosed early and managed properly. It is also characterized by a plethora of other developmental, cognitive, behavioral, and mental health challenges. The purpose of this chapter is to provide an overview of the changing behavioral phenotype of PWS across lifespan and discuss its distinctive features, current understanding, and available interventions.
Abbreviations
- ADD:
-
Attention-deficit disorder
- ADHD:
-
Attention-deficit hyperactivity disorder
- ASD:
-
Autism spectrum disorder
- GH:
-
Growth hormone
- IQ :
-
Intelligence quotient
- mUPD:
-
Maternal uniparental disomy
- OCD:
-
Obsessive-compulsive disorder
- PWS:
-
Prader-Willi syndrome
References
Bar C, Diene G, Molinas C et al (2017) Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome. Orphanet J Rare Dis 12:118. https://doi.org/10.1186/s13023-017-0673-6
Bellis SA, Kuhn I, Adams S et al (2022) The consequences of hyperphagia in people with Prader-Willi syndrome: a systematic review of studies of morbidity and mortality. Eur J Med Genet 65:104379. https://doi.org/10.1016/j.ejmg.2021.104379
Bigi N, Faure J-M, Coubes C et al (2008) Prader-Willi syndrome: is there a recognizable fetal phenotype? Prenat Diagn 28:796–799. https://doi.org/10.1002/pd.1973
Boer H, Holland A, Whittington J et al (2002) Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy. Lancet 359:135–136. https://doi.org/10.1016/S0140-6736(02)07340-3
Bonnot O, Cohen D, Thuilleaux D et al (2016) Psychotropic treatments in Prader-Willi syndrome: a critical review of published literature. Eur J Pediatr 175:9–18. https://doi.org/10.1007/s00431-015-2670-x
Butler MG, Miller JL, Forster JL (2019) Prader-Willi syndrome - clinical genetics, diagnosis and treatment approaches: an update. Curr Pediatr Rev 15:207–244. https://doi.org/10.2174/1573396315666190716120925
Cassidy SB, Schwartz S, Miller JL, Driscoll DJ (2012) Prader-Willi syndrome. Genet Med 14:10–26. https://doi.org/10.1038/gim.0b013e31822bead0
Cooper S-A, Smiley E, Allan LM et al (2009) Adults with intellectual disabilities: prevalence, incidence and remission of self-injurious behaviour, and related factors. J Intellect Disabil Res 53:200–216. https://doi.org/10.1111/j.1365-2788.2008.01060.x
Crinò A, Schiaffini R, Ciampalini P et al (2003) Hypogonadism and pubertal development in Prader-Willi syndrome. Eur J Pediatr 162:327–333. https://doi.org/10.1007/s00431-002-1132-4
Deest M, Jakob MM, Seifert J et al (2021) Sertraline as a treatment option for temper outbursts in <scp>Prader–Willi</scp> syndrome. Am J Med Genet Part A 185:790–797. https://doi.org/10.1002/ajmg.a.62041
Descheemaeker M-J, Govers V, Vermeulen P, Fryns J-P (2006) Pervasive developmental disorders in Prader–Willi syndrome: The Leuven experience in 59 subjects and controls. Am J Med Genet Part A 140A:1136–1142. https://doi.org/10.1002/ajmg.a.31235
Dimitropoulos A, Feurer ID, Butler MG, Thompson T (2001) Emergence of compulsive behavior and tantrums in children with Prader-Willi syndrome. Am J Ment Retard 106:39. https://doi.org/10.1352/0895-8017(2001)106<0039:EOCBAT>2.0.CO;2
Dykens EM (2004) Maladaptive and compulsive behavior in Prader-Willi syndrome: new insights from older adults. Am J Ment Retard 109:142. https://doi.org/10.1352/0895-8017(2004)109<142:MACBIP>2.0.CO;2
Dykens EM, Kasari C (1997) Maladaptive behavior in children with Prader-Willi syndrome, down syndrome, and nonspecific mental retardation. Am J Ment Retard 102:228. https://doi.org/10.1352/0895-8017(1997)102<0228:MBICWP>2.0.CO;2
Dykens EM, Maxwell MA, Pantino E et al (2007) Assessment of hyperphagia in Prader-Willi syndrome*. Obesity 15:1816–1826. https://doi.org/10.1038/oby.2007.216
Feighan S-M, Hughes M, Maunder K et al (2020) A profile of mental health and behaviour in Prader–Willi syndrome. J Intellect Disabil Res 64:158–169. https://doi.org/10.1111/jir.12707
Ge M-M, Gao Y-Y, Wu B-B et al (2019) Relationship between phenotype and genotype of 102 Chinese newborns with Prader–Willi syndrome. Mol Biol Rep 46:4717–4724. https://doi.org/10.1007/s11033-019-04916-2
Goldstone AP, Holland AJ, Hauffa BP et al (2008) Recommendations for the diagnosis and Management of Prader-Willi Syndrome. J Clin Endocrinol Metab 93:4183–4197. https://doi.org/10.1210/jc.2008-0649
Gunay-Aygun M, Schwartz S, Heeger S et al (2001) The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 108:E92. https://doi.org/10.1542/peds.108.5.e92
Haig D, Wharton R (2003) Prader-Willi syndrome and the evolution of human childhood. Am J Hum Biol 15:320–329. https://doi.org/10.1002/ajhb.10150
Hodapp RM, Burack JA, Zigler E (1990) The developmental perspective in the field of mental retardation. In: Issues in the developmental approach to mental retardation. Cambridge University Press, Cambridge pp 3–26
Holland AJ, Treasure J, Coskeran P, Dallow J (1995) Characteristics of the eating disorder in Prader-Willi syndrome: implications for treatment. Journal of intellectual disability research: JIDR, 39(5), 373–381. https://doi.org/10.1111/j.1365-2788.1995.tb00541.x
Holland AJ, Whittington JE, Butler J et al (2003) Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome. Psychol Med 33:141–153. https://doi.org/10.1017/S0033291702006736
Holland AJ, Aman LCS, Whittington JE (2019) Defining mental and behavioural disorders in genetically determined neurodevelopmental syndromes with particular reference to Prader-Willi syndrome. Genes (Basel) 10:1025. https://doi.org/10.3390/genes10121025
Holm VA, Cassidy SB, Butler MG et al (1993) Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 91:398–402
Hustyi KM, Hammond JL, Rezvani AB, Hall SS (2013) An analysis of the topography, severity, potential sources of reinforcement, and treatments utilized for skin picking in Prader-Willi syndrome. Res Dev Disabil 34:2890–2899. https://doi.org/10.1016/j.ridd.2013.06.014
Kayadjanian N, Vrana-Diaz C, Bohonowych J et al (2021) Characteristics and relationship between hyperphagia, anxiety, behavioral challenges and caregiver burden in Prader-Willi syndrome. PLoS One 16:e0248739. https://doi.org/10.1371/journal.pone.0248739
Kong X-J, Wan G, Tian R et al (2021) The effects of probiotic supplementation on anthropometric growth and gut microbiota composition in patients with Prader-Willi syndrome: a randomized double-blinded placebo-controlled trial. Front Nutr 8. https://doi.org/10.3389/fnut.2021.587974
Lindgren AC, Barkeling B, Hägg A et al (2000) Eating behavior in Prader-Willi syndrome, normal weight, and obese control groups. J Pediatr 137:50–55. https://doi.org/10.1067/mpd.2000.106563
Lo ST, Siemensma E, Collin P, Hokken-Koelega A (2013) Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader–Willi syndrome. Res Dev Disabil 34:2764–2773. https://doi.org/10.1016/j.ridd.2013.05.024
Lo ST, Collin PJL, Hokken-Koelega ACS (2015) Psychiatric disorders in children with Prader-Willi syndrome-results of a 2-year longitudinal study. Am J Med Genet Part A 167:983–991. https://doi.org/10.1002/ajmg.a.36998
Manzardo AM, Weisensel N, Ayala S et al (2018) Prader-Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults. Clin Genet 93:622–631. https://doi.org/10.1111/cge.13142
Meade C, Martin R, McCrann A et al (2021) Prader-Willi syndrome in children: quality of life and caregiver burden. Acta Paediatr 110:1665–1670. https://doi.org/10.1111/apa.15738
Miller JL, Angulo M (2014) An open-label pilot study of N -acetylcysteine for skin-picking in Prader-Willi syndrome. Am J Med Genet Part A 164:421–424. https://doi.org/10.1002/ajmg.a.36306
Miller JL, Lynn CH, Driscoll DC et al (2011) Nutritional phases in Prader-Willi syndrome. Am J Med Genet Part A 155:1040–1049. https://doi.org/10.1002/ajmg.a.33951
Pellikaan K, Ben Brahim Y, Rosenberg AGW et al (2021) Hypogonadism in adult males with Prader-Willi syndrome – clinical recommendations based on a Dutch cohort study, review of the literature and an international expert panel discussion. J Clin Med 10:4361. https://doi.org/10.3390/jcm10194361
Shriki-Tal L, Avrahamy H, Pollak Y et al (2017) Psychiatric disorders in a cohort of individuals with Prader–Willi syndrome. Eur Psychiatry 44:47–52. https://doi.org/10.1016/j.eurpsy.2017.03.007
Singh P, Mahmoud R, Gold J-A et al (2018) Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome. J Med Genet 55:594–598. https://doi.org/10.1136/jmedgenet-2017-105118
Sinnema M, Einfeld SL, Schrander-Stumpel CTRM, et al (2011) Behavioral phenotype in adults with Prader–Willi syndrome. Res Dev Disabil 32:604–612. https://doi.org/10.1016/j.ridd.2010.12.014
Srebnik N, Gross Even-Zohar N, Salama A et al (2020) Recognizing the unique prenatal phenotype of <scp>Prader-Willi</scp> syndrome (<scp>PWS</scp>) indicates the need for a diagnostic methylation test. Prenat Diagn 40:878–884. https://doi.org/10.1002/pd.5712
Symons FJ, Butler MG, Sanders MD et al (1999) Self-injurious behavior and Prader-Willi syndrome: behavioral forms and body locations. Am J Ment Retard 104:260. https://doi.org/10.1352/0895-8017(1999)104<0260:SBAPSB>2.0.CO;2
Tarsimi A, Van Den Ameele S, Crunelle CL et al (2021) Psychiatric disorders in adults with Prader-Willi syndrome: a systematic literature review. Tijdschr Psychiatr 63:432–440
Vogels A, De Hert M, Descheemaeker MJ et al (2004) Psychotic disorders in Prader-Willi syndrome. Am J Med Genet 127A:238–243. https://doi.org/10.1002/ajmg.a.30004
Whittington J, Holland A (2020) Developing an understanding of skin picking in people with Prader-Willi syndrome: a structured literature review and re-analysis of existing data. Neurosci Biobehav Rev 112:48–61. https://doi.org/10.1016/j.neubiorev.2020.01.029
Whittington JE, Butler JV, Holland AJ (2008) Pre-, peri- and postnatal complications in Prader–Willi syndrome in a UK sample. Early Hum Dev 84:331–336. https://doi.org/10.1016/j.earlhumdev.2007.08.007
Wieting J, Deest M, Bleich S et al (2021a) N -Acetylcysteine provides limited efficacy as treatment option for skin picking in Prader–Willi syndrome. Am J Med Genet Part A. https://doi.org/10.1002/ajmg.a.62589
Wieting J, Eberlein C, Bleich S, et al (2021b) Behavioural change in Prader–Willi syndrome during COVID-19 pandemic. J Intellect Disabil Res 65:609–616. https://doi.org/10.1111/jir.12831
Wigren M, Hansen S (2005) ADHD symptoms and insistence on sameness in Prader-Willi syndrome. J Intellect Disabil Res 49:449–456. https://doi.org/10.1111/j.1365-2788.2005.00690.x
Yang L, Zhou Q, Ma B et al (2020) Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients. Orphanet J Rare Dis 15:24. https://doi.org/10.1186/s13023-020-1306-z
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2022 Springer Nature Switzerland AG
About this entry
Cite this entry
Krefft, M., Libura, M. (2022). Behavioral Phenotype of Patients with Prader-Willi Syndrome. In: Patel, V., Preedy, V. (eds) Eating Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-67929-3_77-1
Download citation
DOI: https://doi.org/10.1007/978-3-030-67929-3_77-1
Received:
Accepted:
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-67929-3
Online ISBN: 978-3-030-67929-3
eBook Packages: Springer Reference MedicineReference Module Medicine