Reciprocal Copy Number Variations at 22q11.2 Produce Distinct and Convergent Neurobehavioral Impairments Relevant for Schizophrenia and Autism Spectrum Disorder

Lin, Amy; Vajdi, Ariana; Kushan-Wells, Leila; Helleman, Gerhard; Hansen, Laura; Jonas, Rachel K.; Jalbrzikowski, Maria; Kingsbury, Lyle; Raznahan, Armin; Bearden, Carrie E.

doi:10.1016/j.biopsych.2019.12.028

Cited by 37 publications

(78 citation statements)

References 98 publications

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“…Developmental (73%), speech‐language (68%), and motor (58%) delay are common in infancy, while attention (64%), learning (60%), motor (52%), visual perceptual (50%), and behavioral problems (40%) are typically reported at primary school age. Most common NDDs are AD(H)D (44%), SLD (16%), and ASD (13%), which is—for AD(H)D and ASD—in line with the literature, however, diagnoses of SLD, DCD, and CVI have not been reported yet in previous studies (Chawner et al, 2019; Lin et al, 2020; Olsen et al, 2018; Ou et al, 2008; Portnoï, 2009; Van Campenhout et al, 2012; Wenger et al, 2016; Woodward et al, 2019; Yu et al, 2019; Zhang et al, 2021).…”

Section: Discussionsupporting

confidence: 81%

Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study

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et al. 2021

American J of Med Genetics Pt A

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Duplications on Chromosome 22q11.2 (22q11.2 dup) are associated with a wide spectrum of physical and neurodevelopmental features. In this chart review, physical, developmental, and behavioral features of 28 patients with 22q11.2 dup (median age = 17.11 years) are reported, and phenotypes of de novo and inherited duplications are compared. Common medical anomalies include nutritional problems (57%), failure to thrive (33%), transient hearing impairment (52%), and congenital heart defects (33%). Developmental, speech‐language, and motor delay are common in infancy, while attention (64%), learning (60%), and motor problems (52%) are typically reported at primary school age. Attention‐deficit/hyperactivity disorders are diagnosed in 44%. Median full‐scale intelligence quotient is in the borderline range (IQ 76), with one‐fifth of patients having mild intellectual disability. Longitudinal data in 11 patients, with the first assessment at a median age of 5.2 years and the second assessment at a median age of 8.8 years, indicate that almost two‐third of patients have a relative stable cognitive trajectory, whereas one‐third show a growing into deficit profile. In patients with de novo duplications, there is a trend of more failure to thrive, while more patients with inherited duplications follow special education.

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Section: Discussionsupporting

confidence: 81%

Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study

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et al. 2021

American J of Med Genetics Pt A

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“…Finally, several studies reported associations between genetics and SC also in subjects with the 22q11.2 Deletion Syndrome (22q11.2 DS) that has a robust representation of genetic proneness to SSD (156)(157)(158)(159)(160)(161). There is a strong agreement in all the results reported showing that compared to healthy controls, 22q11.2 CNV subjects showed significantly poorer SC such as emotion differentiation, emotion recognition, lie detection, sarcasm detection.…”

Section: Molecular Biomarkers Of Social Cognitionmentioning

confidence: 83%

“…SC is a highly complex process requiring a vast regulatory network involving genetic, epigenetic, and environmental factors, consequently the use of powerful tools, such as genome-wide association studies (GWAS) is needed. Moreover, functional and structural brain imaging studies could also help in understanding the role of genetic variants in the development of SC phenotypes (159,162). This link between genetics and neuroimaging changes can be explained, among other factors, by the role that genes have in regulating both synaptogenesis, synaptic function and the formation of neuronal circuits (75).…”

Section: Discussionmentioning

confidence: 99%

Social Cognition in a Research Domain Criteria Perspective: A Bridge Between Schizophrenia and Autism Spectra Disorders

et al. 2020

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Schizophrenia and autism spectra disorders are currently conceptualized as distinct clinical categories. However, the relationship between these two nosological entities has been revisited in recent years due to the evidence that they share some important clinical and neurobiological features, putting into question the nature and the extent of their commonalities and differences. In this respect, some core symptoms that are present in both disorders, such as social cognitive deficits, could be a primary target of investigation. This review briefly summarizes the commonalities and overlapping features between schizophrenia and autism spectra disorders in social cognitive functions, considering this construct in a Research Domain Criteria perspective. The clinical manifestation of deficits in social cognition are similar in schizophrenia spectrum disorders and autism spectrum disorders, and brain areas that appear to be altered in relation to these impairments are largely shared; however, the results of various studies suggest that, in some cases, the qualitative nature of these alterations may be different in the two spectra. Moreover, relevant differences could be present at the level of brain networks and connections. More research is required in this field, regarding molecular and genetic aspects of both spectra, to better define the neurobiological mechanisms involved in social cognition deficits, with the objective of developing specific and targeted treatments.

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“…In contrast, reciprocal CNVs may also carry risk for related disorders. For instance, the 22q11.2 deletion and duplication both confer high risk of ADHD (Gudmundsson et al, 2019), Likewise, the reciprocal 16p11.2 distal and proximal (Loviglio et al, 2016;Niarchou et al, 2019), 1q21.1 distal (Bernier et al, 2016;Mefford et al, 2008) and 22q11.2 loci (Lin et al, 2020) all confer risk of ASD.…”

Section: Translocationmentioning

confidence: 99%

Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from theENIGMAworking groups onCNVs

Sønderby¹,

Ching²,

Thomopoulos³

et al. 2021

Human Brain Mapping

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The Enhancing NeuroImaging Genetics through Meta-Analysis copy number variant (ENIGMA-CNV) and 22q11.2 Deletion Syndrome Working Groups (22q-ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations.To that end, the ENIGMA-CNV WG has collated CNV and magnetic resonance imaging (MRI) data from 49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q-ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome,

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Reciprocal Copy Number Variations at 22q11.2 Produce Distinct and Convergent Neurobehavioral Impairments Relevant for Schizophrenia and Autism Spectrum Disorder

Cited by 37 publications

References 98 publications

Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study

Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study

Social Cognition in a Research Domain Criteria Perspective: A Bridge Between Schizophrenia and Autism Spectra Disorders

Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from theENIGMAworking groups onCNVs

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