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Ageing in people with PraderWilli syndrome: mortality in the UK population cohort and morbidity in an older sample of adults

  • J. E. Whittington (a1), A. J. Holland (a1) and T. Webb (a1)



The past two decades have seen a great improvement in the care of people with PraderWilli syndrome (PWS), particularly with regard to control of diet and behaviour management. Has this affected mortality rates or thrown up new issues regarding premature ageing or dementia? We investigated two aspects of ageing in people with PWS: (1) an estimate of mortality over 9 years in a cohort of people with PWS, originally recruited in 1998–2000; and (2) premature ageing or dementia in people aged ⩾40 years.


(1) A follow-up of the population-based 1998–2000 cohort to investigate the subsequent mortality rate; and (2) the recruitment and structured assessment of all members of the Prader–Willi Syndrome Association UK (PWSA-UK) aged ⩾40 years who agreed to participate.


Follow-up of the population-based 1998–2000 cohort gave a mortality rate of at least 7/62 over 9 years (1.25% per annum; 20 untraced), age at death was between 13 and 59 years. Twenty-six members of the PWSA-UK aged ⩾40 years were recruited, 18 of whom had a genetic diagnosis (gd) of PWS. Twenty-two (14 gd) showed no evidence of dementia. Four, with possible symptoms, are described in more detail; all are female, of maternal uniparental disomy (mUPD) genetic subtype, or have a disomic region, and all have a long history of psychotic illness.


The mortality rate in people with PWS seems to be declining. The subgroup of people with PWS due to UPD or disomic region with female gender and a history of psychosis may be at risk of early onset dementia.


Corresponding author

* Address for correspondence: Dr J. E. Whittington, Department of Psychiatry, Section of Developmental Psychiatry, University of Cambridge, Douglas House, 18b Trumpington Road, Cambridge CB2 8AH, UK. (Email:


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Ball, S, Holland, A, Huppert, FA, Treppner, P, Dodd, K (2006 a). CAMDEX: The Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities. Cambridge University Press: New York.
Ball, SL, Holland, AJ, Hon, J, Huppert, FA, Treppner, P, Watson, PC (2006 b). Personality and behaviour changes mark the early stages of Alzheimer's disease in adults with Down's syndrome: findings from a prospective population-based study. International Journal of Geriatric Psychiatry 21, 661673.
Ball, SL, Holland, AJ, Huppert, FA, Treppner, P, Watson, PC, Hon, J (2004). The modified CAMDEX informant interview is a valid and reliable tool for use in the diagnosis of dementia in adults with Down's syndrome. Journal of Intellectual Disability Research 48, 611620.
Coppus, AMW (2013). People with intellectual disability: what do we know about adulthood and life expectancy? Developmental Disabilities Research Reviews 18, 616.
Dykens, EM (2013). Aging in rare intellectual disability syndromes. Developmental Disabilities Research Reviews 18, 7583.
Einfeld, SL, Kavanagh, SJ, Smith, A (2006). Mortality in Prader-Willi syndrome. American Journal of Mental Retardation 111, 193198.
Holland, AJ, Hon, J, Huppert, FA, Stevens, F (2000). Incidence and course of dementia in people with Down's syndrome: findings from a population-based study. Journal of Intellectual Disability Research 44, 138146.
Luchsinger, JA, Mayeux, R (2007). Adiposity and Alzheimer's disease. Current Alzheimer Research 4, 127134.
Monte, SM, Ghanbari, K, Frey, WH, Beheshti, I, Averback, P, Hauser, SL (1997). Characterization of the AD7c-NTP cDNA expression in Alzheimer's disease and measurement of a 41-kD protein in cerebrospinal fluid. Journal of Clinical Investigation 100, 30933104.
Quaranta, D, Bizzarro, A, Marra, C, Vita, MG, Seripa, D, Pilotto, A (2009). Psychotic symptoms in Alzheimer's disease and 5-HTTLPR polymorphism of the serotonin transporter gene: evidence for an association. Journal of Alzheimer's Disease 16, 173180.
Ravaglia, G, Forti, P, Maioli, F, Bastagli, L, Montesi, F, Pisacane, N (2007). Endogenous sex hormones as risk factors for dementia in elderly men and women. Journals of Gerontology. Series A, Biological Sciences and Medical Sciences 62, 10351041.
Sinnema, M, Schrander-Stumpel, CT, Maaskant, MA, Boer, H, Curfs, LM (2012). Aging in Prader-Willi syndrome: twelve persons over the age of 50 years. American Journal of Medical Genetics A 158, 13261336.
Sinnema, M, Schrander-Stumpel, CT, Verheij, HE (2011). Dementia in a woman with Prader-Willi syndrome. European Journal of Medical Genetics 53, 145148.
Smith, A, Loughnan, G, Steinbeck, K (2003). Death in adults with Prader-Willi syndrome may be correlated with maternal uniparental disomy. Journal of Medical Genetics 40, e63.
Temple, V, Jozsvai, E, Konstantareas, MM, Hewitt, TA (2001). Alzheimer dementia in Down's syndrome: the relevance of cognitive ability. Journal of Intellectual Disability Research 45, 4755.
Tola-Arribas, MA, Yugueros, MI, Garea, J (2013). Prevalence of dementia and subtypes in Valladolid, Northwestern Spain: the DEMINVALL study. PLoS ONE 8, e77688.
Webb, T, Maina, EN, Soni, S, Whittington, J, Boer, H, Clarke, D, Holland, A (2008). In search of the psychosis gene in people with Prader-Willi syndrome. American Journal of Medical Genetics. Part A 146, 843853.
Whittington, JE, Holland, AJ, Webb, T, Butler, JV, Clarke, DJ, Boer, H (2001). Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region. Journal of Medical Genetics 38, 792798.



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