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Intellectual disability and cognitive ability in Darier disease: Swedish nation-wide study

Cederlof, M. (författare)
Karolinska Institutet
Karlsson, R. (författare)
Karolinska Institutet
Larsson, Henrik, 1975- (författare)
Karolinska Institutet
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Almqvist, C. (författare)
Karolinska Institutet
Magnusson, P. K. E. (författare)
Karolinska Institutet
Nordlind, K. (författare)
Karolinska Institutet
Landén, Mikael, 1966 (författare)
Karolinska Institutet,Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology,Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden; Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden
Lichtenstein, P. (författare)
Karolinska Institutet
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 (creator_code:org_t)
2015-05-29
2015
Engelska.
Ingår i: British Journal of Dermatology. - Hoboken, USA : Oxford University Press (OUP). - 0007-0963 .- 1365-2133. ; 173:1, s. 155-158
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
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  • Background Darier disease is an autosomal dominant skin disorder caused by mutations in the ATP2A2 gene. Anecdotal reports suggest a relationship between Darier disease and intellectual disabilities, but these reports are based on small clinical samples and limited by absence of control populations. Objectives To examine the risk of intellectual disability and subclinical impairments in cognitive ability in Darier disease. Methods We conducted a matched cohort study based on Swedish Population-, Patient-and Conscript Registers. The risk of being diagnosed with intellectual disability was estimated in 770 individuals with Darier disease, compared with matched comparison individuals without Darier disease. Associations were examined with risk ratios from conditional logistic regressions. In addition, we analysed test-based cognitive ability data (i.e. IQ data) from the Swedish conscript examination, for a subset of patients without diagnosed intellectual disability. Results Individuals with Darier disease had a sixfold increased risk of being diagnosed with intellectual disability (risk ratio 6.2, 95% confidence interval 3.1-12.4). For conscripted individuals with Darier disease but no diagnosed intellectual disability, mean cognitive ability scores were about half a standard deviation lower than for comparison subjects. Conclusions Darier disease is associated with intellectual disability and subclinical impairments in cognitive ability. The Darier-causing mutations merit further attention in molecular genetic research on intellectual disability and cognitive ability.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Dermatologi och venereologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Dermatology and Venereal Diseases (hsv//eng)

Nyckelord

MAJOR AFFECTIVE-DISORDER
ATP2A2 MUTATIONS
FAMILIAL COSEGREGATION
KERATOSIS-FOLLICULARIS
MENTAL-RETARDATION
CLINICAL-FEATURES
PHENOTYPE
ASSOCIATION
GENE
Dermatology

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