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Hanna Björlin Avdic, Agnieszka Butwicka, Anna Nordenström, Catarina Almqvist, Agneta Nordenskjöld, Hedvig Engberg, Louise Frisén
(2021).
Neurodevelopmental and psychiatric disorders in females with Turner syndrome: a population-based study.
Journal of Neurodevelopmental Disorders, 13(1), 51.
Springer Science and Business Media LLC.
- Publication date
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27 Oct 2021
- Identifier
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10.1186/s11689-021-09399-6
- Authors
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Hanna Björlin Avdic,
Agnieszka Butwicka,
Anna Nordenström,
Catarina Almqvist,
Agneta Nordenskjöld,
Hedvig Engberg,
Louise Frisén
- Source
- Journal of Neurodevelopmental Disorders
- Details
- 13(1), 51
- Reference type
- article
- Publisher
- Springer Science and Business Media LLC
- Metadata source
- crossref
Abstract
Abstract Background Turner syndrome is the result of the partial or complete absence of an X chromosome in phenotypic girls. This can cause an array of medical and developmental difficulties. The intelligence quotient in females with Turner syndrome has previously been described as uneven, but considered within normal range. Although their social, intellectual, and psychiatric profile is described, it is unclear to what extent these females meet the clinical criteria for neurodevelopmental or psychiatric diagnoses. The aim of this study was to examine the prevalence of neurodevelopmental and psychiatric disorders in females with Turner syndrome. Methods A retrospective cohort study was performed with a total of 1392 females with Turner syndrome identified through the Swedish National Patient Register and compared with 1:100 age- and sex-matched controls from the general population. The associations between Turner syndrome and diagnoses of neurodevelopmental and/or psychiatric disorders were calculated using conditional logistic regression and is presented as estimated risk (odds ratio, OR, 95% confidence interval, CI) in females with Turner syndrome compared with matched controls. Results Females with Turner syndrome had a higher risk of neurodevelopmental or psychiatric disorder (OR 1.37, 95% CI 1.20–1.57), an eightfold increased risk of intellectual disability (OR 8.59, 95% CI 6.58–11.20), and a fourfold increased risk of autism spectrum disorder (OR 4.26, 95% CI 2.94‑6.18) compared with the controls. In addition, females with Turner syndrome had twice the risk of a diagnosis of schizophrenia and related disorders (OR 1.98, 95% CI 1.36–2.88), eating disorders (OR 2.03, 95% CI 1.42–2.91), and behavioral and emotional disorders with onset in childhood (OR 2.01, 95% CI 1.35–2.99). Conclusions Females with Turner syndrome have an increased risk of receiving a diagnosis of neurodevelopmental or psychiatric disorder. This warrants extensive assessment of intellectual and cognitive functions from early age, and increased psychiatric vigilance should be a part of lifelong healthcare for females with Turner syndrome.
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