Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion

Vorstman, Jacob; Breetvelt, Elemi J.; Thode, Kirstin I.; Chow, Eva W.C.; Bassett, Anne S.

doi:10.1016/j.schres.2012.10.010

Cited by 70 publications

(66 citation statements)

References 37 publications

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“…(47). Green et al (48) reported that three large CNVs associated with schizophrenia were also found in a sample of 2591 bipolar subjects although their analysis supported the prior finding of a substantially reduced prevalence of large CNVs in bipolar disorder. This evidence of shared mutations between schizophrenia and bipolar disorder is consistent with evidence of increased risk for either disorder in probands diagnosed with either disorder (49).…”

Section: Geneticsmentioning

confidence: 86%

History of the Concept of Disconnectivity in Schizophrenia

Coyle

Balu²,

Puhl³

et al. 2016

Harvard Review of Psychiatry

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Nearly sixty years ago Seymour Kety proposed that research on genetics and brain pathology but not on neurochemistry would ultimately lead to an understanding of the pathophysiology of schizophrenia. This Perspective will demonstrate how prescient Kety’s proposal was as advances in research on brain structure and on genetics have shaped our current understanding of the pathophysiology of schizophrenia. Brain imaging techniques have shown that schizophrenia is associated with cortical atrophy and ventricular enlargement, which progresses for at least a decade after the onset of psychosis. Cortical atrophy correlates with negative symptoms and cognitive impairment but not with psychosis in schizophrenia. Studies with the Golgi staining technique that illuminates the entire neuron indicate that cortical atrophy was due to reduced synaptic connectivity on the pyramidal neurons and not due to actual loss of neurons. Results of recent genetic studies indicate that several risk genes for schizophrenia are within two degrees of separation from the N-methy-D-aspartate (NMDA) receptor, a subtype of glutamate receptor that is critical to synapse formation and synaptic plasticity. Inactivation of one of these risk genes encoding serine racemase, which synthesizes D-serine, a co-agonist of the NMDA receptor, reproduces the synaptic pathology of schizophrenia. Thus, widespread loss of cortical synaptic connectivity appears to be the primary pathology in schizophrenia that is driven by multiple risk genes that adversely affect synaptogenesis and maintenance as hypothesized by Kety.

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Section: Geneticsmentioning

confidence: 86%

History of the Concept of Disconnectivity in Schizophrenia

Coyle

Balu²,

Puhl³

et al. 2016

Harvard Review of Psychiatry

View full text Add to dashboard Cite

show abstract

“…This rationale indicates that perhaps there are some gaps in awareness among medical geneticists regarding risks for childhood-onset psychiatric conditions associated with 22q11DS 7,12,13 and suggests that perhaps respondents were focusing primarily on psychotic illnesses when responding to this question. Indeed, some comments spontaneously volunteered by participants indicate a potential focus on psychotic disorders.…”

Section: Discussionmentioning

confidence: 99%

“…2,3 In addition, individuals with 22q11DS seem to have elevated rates of attention-deficit hyperactivity disorder, anxiety, oppositional defiant disorder, and autism spectrums disorders, and approximately 25-30% of individuals with 22q11DS develop schizophrenia or other psychotic disorders. [3][4][5][6][7][8][9][10][11][12][13] In a 2008 study, parents of individuals with 22q11DS (n = 41) reported that psychiatric disorders were their second most important cause for concern related to the syndrome (after learning disabilities) and that of all the manifestations of the condition, psychiatric disorders were the source of their greatest anxiety. 14 In addition, and crucially, many parents reported that they did not receive information about the psychiatric risks associated with 22q11DS from their health-care provider but instead obtained information about these risks from the Internet.…”

mentioning

confidence: 99%

Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists

Morris

Inglis

Friedman

et al. 2013

Genetics in Medicine

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“…10 Notably, although bipolar disorder sometimes occurs in 22q11.2DS, it has a similar prevalence to that in the general population, as do other more common disorders such as major depression and substance use disorders. 8,9,13,32 Autism spectrum disorders and sometimes attention deficit disorder, with onset during childhood, remain important features in adulthood 13,33 but have no apparent relationship to the later appearance of schizophrenia. 33 …”

Section: Review and Practice Guidelinesmentioning

confidence: 99%

Practical guidelines for managing adults with 22q11.2 deletion syndrome

Fung

Butcher

Costain

et al. 2015

Genetics in Medicine

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247

310

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22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. Advances in pediatric care ensure a growing population of adults with 22q11.2DS. Informed by an international panel of multidisciplinary experts and a comprehensive review of the existing literature concerning adults, we present the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues that are the focus of attention in adults with 22q11.2DS. We propose practical strategies for the recognition, evaluation, surveillance, and management of the associated morbidities.

show abstract

Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion

Cited by 70 publications

References 37 publications

History of the Concept of Disconnectivity in Schizophrenia

History of the Concept of Disconnectivity in Schizophrenia

Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists

Practical guidelines for managing adults with 22q11.2 deletion syndrome

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