Emotion regulation in adults with Klinefelter syndrome (47,XXY): Neurocognitive underpinnings and associations with mental health problems

Rijn, Sophie van; Swaab, Hanna

doi:10.1002/jclp.22871

Cited by 17 publications

(5 citation statements)

References 30 publications

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“…Patients with KS might have also exhibit impairments in executive functions related to attention, flexibility and planning as well as response inhibition 158 . The risks of developing psychiatric conditions, such as schizophrenia, bipolar disorders, depression, anxiety, autism and ADHD are increased in patients with KS 159‐163 …”

Section: Clinical Pictures Diagnostic Steps and Therapymentioning

confidence: 99%

European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology

et al. 2020

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Background Knowledge about Klinefelter syndrome (KS) has increased substantially since its first description almost 80 years ago. A variety of treatment options concerning the spectrum of symptoms associated with KS exists, also regarding aspects beyond testicular dysfunction. Nevertheless, the diagnostic rate is still low in relation to prevalence and no international guidelines are available for KS. Objective To create the first European Academy of Andrology (EAA) guidelines on KS. Methods An expert group of academicians appointed by the EAA generated a consensus guideline according to the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) system. Results Clinical features are highly variable among patients with KS, although common characteristics are severely attenuated spermatogenesis and Leydig cell impairment, resulting in azoospermia and hypergonadotropic hypogonadism. In addition, various manifestations of neurocognitive and psychosocial phenotypes have been described as well as an increased prevalence of adverse cardiovascular, metabolic and bone‐related conditions which might explain the increased morbidity/mortality in KS. Moreover, compared to the general male population, a higher prevalence of dental, coagulation and autoimmune disorders is likely to exist in patients with KS. Both genetic and epigenetic effects due to the supernumerary X chromosome as well as testosterone deficiency contribute to this pathological pattern. The majority of patients with KS is diagnosed during adulthood, but symptoms can already become obvious during infancy, childhood or adolescence. The paediatric and juvenile patients with KS require specific attention regarding their development and fertility. Conclusion These guidelines provide recommendations and suggestions to care for patients with KS in various developmental stages ranging from childhood and adolescence to adulthood. This advice is based on recent research data and respective evaluations as well as validations performed by a group of experts.

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Section: Clinical Pictures Diagnostic Steps and Therapymentioning

confidence: 99%

European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology

et al. 2020

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“…Other studies concerning Klinefelter syndrome pointed out higher levels of psychological distress, such as depression, paranoid ideation, phobias, psychoticism and obsessive thoughts, and a central role of alexithymia in the development of these aspects ( Skakkebæk et al ., 2018 ; Giagulli et al ., 2019 ; van Rijn and Swaab, 2020 ; Fabrazzo et al ., 2021 ). It is well known in current literature that Klinefelter syndrome might also predispose to the development of maladaptive psychological constructs, such as obsessive-compulsive symptoms associated with lower total, verbal and performance IQ scores, although there is no clear evidence on etiopathological process and if these symptoms are due to genetic makeup or environment and social stigma ( Fisher et al ., 2015 ).…”

Section: Discussionmentioning

confidence: 99%

Emotional dysregulation, alexithymia and neuroticism: a systematic review on the genetic basis of a subset of psychological traits

Castellini

Merola

Baccaredda³

et al. 2022

Psychiatric Genetics

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Neuroticism, alexithymia and emotion dysregulation are key traits and known risk factors for several psychiatric conditions. In this systematic review, the aim is to evaluate the genetic contribution to these psychological phenotypes. A systematic review of articles found in PubMed was conducted. Search terms included ‘genetic’, ‘GWAS’, ‘neuroticism’, ‘alexithymia’ and ‘emotion dysregulation’. Risk of bias was assessed utilizing the STREGA checklist. Two hundred two papers were selected from existing literature based on the inclusion and exclusion criteria. Among these, 27 were genome-wide studies and 175 were genetic association studies. Single gene association studies focused on selected groups of genes, mostly involved in neurotransmission, with conflicting results. GWAS studies on neuroticism, on the other hand, found several relevant and replicated intergenic and intronic loci affecting the expression and regulation of crucial and well-known genes (such as DRD2 and CRHR1). Mutations in genes coding for trascriptional factors were also found to be associated with neuroticism (DCC, XKR6, TCF4, RBFOX1), as well as a noncoding regulatory RNA (LINC00461). On the other hand, little GWAS data are available on alexythima and emotional dysregulation.

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“…Van Rijn and Swaab (2020) linked executive function deficits to emotional dysregulation in 47,XXY KS individuals, particularly noting the associations between poor emotion regulation and diminished cognitive flexibility and attention [39]. Atypical emotion regulation strategies, including heightened emotional expression, avoiding, distraction seeking and passive coping, were observed.…”

Section: Executive Functionsmentioning

confidence: 99%

Klinefelter Syndrome: A Genetic Disorder Leading to Neuroendocrine Modifications and Psychopathological Vulnerabilities in Children—A Literature Review and Case Report

Panvino,

Paparella,

Gambuti

et al. 2024

Children

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Klinefelter syndrome (KS), characterized by an additional X-chromosome in males, manifests in a wide range of neuroendocrine and psychiatric symptoms. Individuals with KS often face increased risks of hormonal dysfunction, leading to depression and anxiety, although extended research during pediatric and adolescent age is still limited. This critical phase, decisive for KS children, is influenced by a combination of genetic, environmental and familial factors, which impact brain plasticity. In this report, we reviewed, in a narrative form, the crucial KS psychopathological hallmarks in children. To better describe neuroendocrine and neuropsychiatric outcomes in children with KS, we presented the case of an 11-year-old prepubertal child with mosaic KS who was referred to our Center of Developmental Psychopathology due to a decline in his academic performance, excessive daytime fatigue and increased distractibility over the past few months. Family history revealed psychiatric conditions among first- and second-degree relatives, including recently divorced parents and a 15-year-old sister. Early-onset persistent depressive disorder and anxious traits were diagnosed. Timely identification of susceptible children, with thorough examination of familial psychiatric history, environmental influences and neurocognitive profile, alongside targeted interventions, could potentially mitigate lifelong psychopathology-related disabilities in pediatric and adolescent KS cases, including those with mosaic KS.

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Emotion regulation in adults with Klinefelter syndrome (47,XXY): Neurocognitive underpinnings and associations with mental health problems

Cited by 17 publications

References 30 publications

European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology

European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology

Emotional dysregulation, alexithymia and neuroticism: a systematic review on the genetic basis of a subset of psychological traits

Klinefelter Syndrome: A Genetic Disorder Leading to Neuroendocrine Modifications and Psychopathological Vulnerabilities in Children—A Literature Review and Case Report

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