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

Cederlöf, M., (författare)
Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden
Karlsson, R., (författare)
Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden
Larsson, Henrik, 1975- (författare)
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
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Almqvist, C., (författare)
Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden; Lung and Allergy Unit, Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Stockholm, Sweden
Magnusson, P. K. E., (författare)
Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden
Nordlind, K., (författare)
Department of Medicine, Karolinska Institute, Stockholm, Sweden
Landén, M., (författare)
Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden; Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden
Lichtenstein, P., (författare)
Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden
Cederlof, M. (författare)
Landen, M, (författare)
Karolinska Institutet
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Göteborgs universitet Sahlgrenska akademin. Institutionen för neurovetenskap och fysiologi. 
2015
Engelska.
Ingår i: British Journal of Dermatology. - 0007-0963. ; 173:1, s. 155-158
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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  (hsv//swe)
MEDICAL AND HEALTH SCIENCES  (hsv//eng)
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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