Klinefelter syndrome and risk of psychosis, autism and ADHD

Cederlöf, Martin; Gotby, Agnes Ohlsson; Larsson, Henrik; Serlachius, Eva; Boman, Magnus; Långström, Niklas; Landén, Mikael; Lichtenstein, Paul

doi:10.1016/j.jpsychires.2013.10.001

Cited by 72 publications

(67 citation statements)

References 8 publications

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“…There are many forms of genetic syndromic ASD (Cederlöf et al 2014;Kern et al 2015;Plasschaert et al 2015;Poot 2015;Richards et al 2015). The fact that many different genetic syndromes do yield ASD diagnostic symptoms is the result of locus heterogeneity, wherein different gene variants produce the same phenotype, or the same phenotypic trait or symptom.…”

Section: Genetic Syndromic Asd Has Been Found With Varied Brain Impaimentioning

confidence: 99%

ASD Validity

Waterhouse

London

Gillberg

2016

Rev J Autism Dev Disord

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ASD research is at an important crossroads. The ASD diagnosis is important for assigning a child to early behavioral intervention and explaining a child's condition. But ASD research has not provided a diagnosis-specific medical treatment, or a consistent early predictor, or a unified life course. If the ASD diagnosis also lacks biological and construct validity, a shift away from studying ASD-defined samples would be warranted. Consequently, this paper reviews recent findings for the neurobiological validity of ASD, the construct validity of ASD diagnostic criteria, and the construct validity of ASD spectrum features. The findings reviewed indicate that the ASD diagnosis lacks biological and construct validity. The paper concludes with proposals for research going forward.Keywords DSM-5 . ASD . Autism . Diagnosis . Validity . Comorbidity . HeterogeneityThe goal of the DSM-3 nosology (American Psychiatric Association 1980) was to create reliable and standard categorical psychiatric diagnoses (Robins and Guze 1970). However, in the past 30 years, clinical, genetics, and neuroscience findings have revealed that the DSM diagnoses are not biologically valid. The National Institutes of Mental Health (NIMH) responded by proposing the Research Domain Criteria (RDoC) framework for a brain-based transdiagnostic psychiatric symptom nosology (Cuthbert and Insel 2013;Insel et al. 2010;Lilienfeld and Treadway 2016). Peterson (2015) and Weinberger et al. (2015) argued that the RDoC could not replace the DSM-5 psychiatric nosology (American Psychiatric Association 2013) or the parallel International Classification of Diseases (ICD) psychiatric nosology (World Health Organization 2012). But BFor the foreseeable future, RDoC is not envisioned as a system of psychiatric classification in its own right. Instead, in the near term, RDoC and DSM-ICD are expected to coexist. Nevertheless, RDoC is intended to provide scaffolding for a large-scale research program that will ultimately yield an alternative to DSM-ICD^ (Lilienfeld and Treadway 2016, p. 445).RDoC advocates accept that DSM-5/ICD psychiatric categories remain necessary in clinical practice, but argue that researchers should shift to RDoC study designs immediately. They assert that studying psychiatric categories lacking biological validity blocks the discovery of brain bases for psychopathology and thus cannot lead to effective medical treatments for specific psychiatric symptoms (Cuthbert and Insel 2013;Insel et al. 2010;Lilienfeld and Treadway 2016;Yee et al. 2015). Against this RDoC imperative for biological validity, Weinberger et al. (2015) countered that current DSM-5 psychiatric behavioral diagnoses were valid when they yielded effective medical treatment, clear prognosis, and a life course specific to a diagnosis.Autism spectrum disorder (ASD) research has been productive (Dawson 2016;de la Torre-Ubieta et al. 2016;Szatmari et al. 2016), but no ASD research findings have met the validity criteria of Weinberger et al. (2015). DSM-5 ASD research has found no s...

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Section: Genetic Syndromic Asd Has Been Found With Varied Brain Impaimentioning

confidence: 99%

ASD Validity

Waterhouse

London

Gillberg

2016

Rev J Autism Dev Disord

View full text Add to dashboard Cite

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“…Approximately, 0.8–1% of male inpatients with schizophrenia are found to have an XXY karyotype (DeLisi et al, 1994). Rates of psychotic symptoms (DeLisi et al, 1994) and psychotic disorders (Bojesen et al, 2006; Cederlöf et al, 2014) are elevated in Klinefelter's individuals compared to the general population (although see Mors et al, 2001). Studies have reported that schizotypal traits are higher in those with Klinefelter's when compared to healthy controls (Van Rijn et al, 2006, 2009; Verhoeven and Egger, 2011).…”

Section: Genetic Disorders Reporting Schizotypal Traits (Schizotypy mentioning

confidence: 99%

Genetic Consideration of Schizotypal Traits: A Review

et al. 2016

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Schizotypal traits are of interest and importance in their own right and also have theoretical and clinical associations with schizophrenia. These traits comprise attenuated psychotic symptoms, social withdrawal, reduced cognitive capacity, and affective dysregulation. The link between schizotypal traits and psychotic disorders has long since been debated. The status of knowledge at this point is such schizotypal traits are a risk for psychotic disorders, but in and of themselves only confer liability, with other risk factors needing to be present before a transition to psychosis occurs. Investigation of schizotypal traits also has the possibility to inform clinical and research pursuits concerning those who do not make a transition to psychotic disorders. A growing body of literature has investigated the genetic underpinnings of schizotypal traits. Here, we review association, family studies and describe genetic disorders where the expression of schizotypal traits has been investigated. We conducted a thorough review of the existing literature, with multiple search engines, references, and linked articles being searched for relevance to the current review. All articles and book chapters in English were sourced and reviewed for inclusion. Family studies demonstrate that schizotypal traits are elevated with increasing genetic proximity to schizophrenia and some chromosomal regions have been associated with schizotypy. Genes associated with schizophrenia have provided the initial start point for the investigation of candidate genes for schizotypal traits; neurobiological pathways of significance have guided selection of genes of interest. Given the chromosomal regions associated with schizophrenia, some genetic disorders have also considered the expression of schizotypal traits. Genetic disorders considered all comprise a profile of cognitive deficits and over representation of psychotic disorders compared to the general population. We conclude that genetic variations associated with schizotypal traits require further investigation, perhaps with targeted phenotypes narrowed to assist in refining the clinical end point of significance.

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“…The additional somatic pathology may also be related to (other types of) emotional problems. In patients with Turner and Klinefelter syndromes specific psychopathology is more frequently seen compared to other groups of patients with DSD [6,7]. Of the 168 patients who matched the inclusion criteria, 21 patients (12.5%) were lost to follow-up due to relocation or invalid contact details, and 29 patients (17.3%) declined participation.…”

Section: Patients With Dsdmentioning

confidence: 99%