Suboptimal Psychosocial Outcomes in Patients With Congenital Adrenal Hyperplasia: Epidemiological Studies in a Nonbiased National Cohort in Sweden

Strandqvist, Anna; Falhammar, Henrik; Lichtenstein, Paul; Hirschberg, Angelica Lindén; Wedell, Anna; Norrby, Christina; Nordenskjöld, Agneta; Frisén, Louise; Nordenström, Anna

doi:10.1210/jc.2013-3326

Cited by 87 publications

(73 citation statements)

References 38 publications

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“…These may use information from screening programs, hospital morbidity data, or data from specific disease registries or clinic samples, providing there are patient identifiers (such as date of birth) that are common to all datasets. In countries that operate a newborn screening program for CAH or have a national disease register, data can be linked to morbidity and mortality datasets and analyzed progressively, providing information on a wide range of outcomes [7, 66-69]. These can also be combined with other data sources, such as stored pharmaceutical prescription data, which can act as proxies for underlying diagnoses or even act as indices of severity [45].…”

Section: Epidemiological Considerationsmentioning

confidence: 99%

Adrenal Crises in Children: Perspectives and Research Directions

et al. 2018

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Adrenal crises (AC) are life-threatening physiological disturbances that occur at a rate of 5–10/100 patient years in patients with adrenal insufficiency (AI). Despite their seriousness, there is a paucity of information on the epidemiology of AC events in the paediatric population specifically, as most investigations have focused on AI and ACs in adults. Improved surveillance of AC-related morbidity and mortality should improve the delineation of AC risk overall and among different subgroups of paediatric patients with AI. Valid incidence measures are essential for this purpose and also for the evaluation of interventions aimed at reducing adverse health outcomes from ACs. However, the absence of an agreed AC definition limits the potential benefit of research and surveillance in this area. While approaches to the treatment and prevention of ACs have much in common across the lifespan, there are important differences between children and adults with regards to the physiological, psychological, and social milieu in which these events occur. Education is considered to be an essential element of AC prevention but studies have shown that ACs occur even among well-educated patients, suggesting that new strategies may be needed. In this review, we examine the current knowledge regarding AC events in children with AI; assess the existing definitions of an AC and offer a new definition for use in research and the clinic; and suggest areas for further investigation that are aimed at reducing the incidence and health impact of ACs in the paediatric age group.

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Section: Epidemiological Considerationsmentioning

confidence: 99%

Adrenal Crises in Children: Perspectives and Research Directions

et al. 2018

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“…However, other data also suggest that patients function normally and have a good overall psychological adjustment [5]. Most recently, a study of 588 CAH adults in Sweden showed that the total cohort of CAH patients did not differ greatly from the general population in terms of education, employment, income, sick leave, disability pension, social welfare, marriage, or children [6]. However, a subanalysis revealed that outcomes were worse among women and those affected with the classic form of the disease [7].…”

Section: Introductionmentioning

confidence: 99%

“…Adults have identified experiences during their childhood that have negatively impacted them, including the processes involved in understanding or becoming aware of CAH, hospitalizations for adrenal crises, and surgical interventions to correct genitourinary conditions in females [4]. In contrast, a recent study of children with CAH in a Dutch population showed few negative effects of CAH on physical, social, and societal functioning based on a self-designed questionnaire [6]. Clearly, more research is needed to identify the aspects of a child's QOL that may be impaired.…”

Section: Introductionmentioning

confidence: 99%

Health-Related Quality of Life in Children with Congenital Adrenal Hyperplasia

et al. 2015

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Background/Aims: Factors in congenital adrenal hyperplasia (CAH) that may affect quality of life (QOL) include the need for lifelong medication, the risk of adrenal crisis, and hyperandrogenic symptoms. The objectives were to evaluate health-related QOL (HRQOL) in children with CAH, and whether CAH poses an additional burden compared to other endocrine disorders. Methods: The validated PedsQL 4.0 generic core scales were administered to subjects (8-18 years) with CAH and hypothyroidism and their parents. The minimal clinically important difference (MCID) was determined for each scale score, allowing a comparison with the healthy population. A score of >1 standard deviation below the population mean was considered at risk for impaired HRQOL. Results: In CAH, the mean total HRQOL scores were >1 MCID below the population mean, and a higher percentage than expected had scores considered at risk. Conclusion: Compared to subjects with hypothyroidism, subjects with CAH self-reported lower school domain scores. CAH subjects more frequently reported peers not wanting to be friends.

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“…Data from the Swedish follow-up studies investigating different aspects of long-term outcomes show that the most severely affected patients, the null genotype group, differ from the I2 splice genotype group, also causing the salt-wasting form of CAH, not only regarding outcome of genital surgery, but also regarding psychological aspects [13-18]. Females with CAH have an increased risk of negative effects regarding sexual function and reproductive potential, especially in the more severe cases, but it is unclear if this is the result of the degree of prenatal virilization or other factors related to the disease [13, 14, 18]. In addition, there is some evidence that women with the null genotype have lower results on measures of psychometric intelligence [15].…”

Section: Congenital Adrenal Hyperplasiamentioning

confidence: 99%

Prenatal Treatment of Congenital Adrenal Hyperplasia: Long-Term Effects of Excess Glucocorticoid Exposure

2018

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Prenatal treatment of congenital adrenal hyperplasia with dexamethasone (DEX) has been in use since the mid-1980s and has proven effective at reducing virilization of external genitalia in affected girls. However, multiple experimental studies on animals and clinical studies on humans show that prenatal administration of glucocorticoids may cause unwanted adverse effects which have raised concerns about the long-term safety of the treatment. The long-term outcome of prenatal DEX treatment on cognition has been investigated, but the results are still conflicting. Overall, most of the evidence points towards a negative effect on executive functions where girls seem to be more susceptible than boys. Some effects on social behavior have been observed, but results are still contradictory and treated children are mostly well adapted. Cardiovascular, renal, and metabolic function are still areas to be investigated. Larger studies are warranted to investigate areas other than cognition and behavior and to be able to draw more definitive conclusions about prenatal DEX treatment.

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Suboptimal Psychosocial Outcomes in Patients With Congenital Adrenal Hyperplasia: Epidemiological Studies in a Nonbiased National Cohort in Sweden

Cited by 87 publications

References 38 publications

Adrenal Crises in Children: Perspectives and Research Directions

Adrenal Crises in Children: Perspectives and Research Directions

Health-Related Quality of Life in Children with Congenital Adrenal Hyperplasia

Prenatal Treatment of Congenital Adrenal Hyperplasia: Long-Term Effects of Excess Glucocorticoid Exposure

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