Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy

Boer, Harm; Holland, Anthony; Whittington, Joyce; Butler, Jill; Webb, T.; Clarke, David J.

doi:10.1016/s0140-6736(02)07340-3

Cited by 277 publications

(205 citation statements)

References 5 publications

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“…23 Psychosis is evident by young adulthood in 10-20% of affected individuals. [24][25][26] Behavioral and psychiatric problems interfere most with the quality of life in adolescence and adulthood.…”

Section: Behavioral and Psychiatric Disturbancementioning

confidence: 99%

Prader-Willi syndrome

Cassidy

Schwartz

Miller

et al. 2012

Genetics in Medicine

1,111

1,193

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Section: Behavioral and Psychiatric Disturbancementioning

confidence: 99%

Prader-Willi syndrome

Cassidy

Schwartz

Miller

et al. 2012

Genetics in Medicine

1,111

1,193

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“…21 Psychosis is evident by young adulthood in at least 5 -10% of the individuals. 17,22,23 Other characteristics A number of less consistent features are nonetheless common and/or characteristic, and may be important for diagnosis or management (Figures 2 -3 30,31 found that obesity-related cardiovascular and respiratory disorders were the most frequent causes of death in both children and adults. Based on a population study, the death rate has been estimated at 3% per year.…”

Section: Short Staturementioning

confidence: 99%

Prader–Willi syndrome

2008

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In association withPrader-Willi syndrome Prader -Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insufficiency causing short stature for the family, early childhood-onset hyperphagia and obesity, characteristic appearance, and behavioral and sometimes psychiatric disturbance. Many more minor characteristics can be helpful in diagnosis and important in management. PWS is an example of a genetic condition involving genomic imprinting. It can occur by three main mechanisms, which lead to absence of expression of paternally inherited genes in the 15q11.2 -q13 region: paternal microdeletion, maternal uniparental disomy, and imprinting defect.

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“…This review has so far identified a lack of literature relating to the expression of Willi syndrome is a genetic syndrome that arises from the absence of the expression of the paternal genes on chromosome 15q11-q13 (see Boer et al, 2002). Current estimates suggest a prevalence of approximately 1 in 25,000 births and a gender ratio of 1:1 (Whittington et al, 2001).…”

Section: Assessment Of Internal States Within Individuals With Intellmentioning

confidence: 99%

The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities

Adams¹,

Oliver²

2011

Clinical Psychology Review

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The expression of emotions and internal states by individuals with severe or profound intellectual disabilities is a comparatively under-researched area. Comprehensive or standardised methods of assessing or understanding the emotions and internal states within this population, whose ability to communicate is significantly compromised, do not exist.The literature base will be discussed and compared to that within the general population.Methods of assessing broader internal states, notably depression, anxiety, and pain within severe or profound intellectual disabilities are also addressed. Finally, this review will examine methods of assessing internal states within genetic syndromes, including hunger, social anxiety and happiness within Prader-Willi, Fragile-X and Angelman syndrome. This will then allow for the identification of robust methodologies used in assessing the expression of these internal states, some of which may be useful when considering how to assess emotions within individuals with intellectual disabilities.

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Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy

Cited by 277 publications

References 5 publications

Prader-Willi syndrome

Prader-Willi syndrome

Prader–Willi syndrome

The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities

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