Editorial: Secondary vs. Idiopathic Autism

Casanova, Manuel; Frye, Richard E.; Baeza-Velasco, Carolina; LaSalle, Janine M.; Hagerman, Randi J; Scherer, Stephen W.; Natowicz, Marvin R.

doi:10.3389/fpsyt.2020.00297

Cited by 30 publications

(22 citation statements)

References 16 publications

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“…HC were recruited from each of these ongoing studies, with similar inclusion and exclusion criteria: specifically, HC subjects could not have a personal or close family history of any major neurodevelopmental or psychiatric disorder or intellectual disability (IQ < 70). All CHR, FEP, and ASD, and HC participants were verbally screened for known genetic or medical conditions potentially associated with secondary psychosis or ASD [ 34 , 35 ], and excluded based on known conditions. However, we did not require all our CHR, FEP, ASD, and HC participants to undergo genetic testing to confirm the absence of underlying genetic conditions.…”

Section: Methodsmentioning

confidence: 99%

“…One prior study found poorer adaptive social skills in individuals with 22q11DS and psychotic symptoms, compared to 22q11DS youth without psychosis [ 33 ]. To the best of our knowledge, however, no published studies to date have investigated differences in social cognition profiles in individuals with primary idiopathic psychotic spectrum conditions or ASD [ 34 , 35 ] compared to a highly penetrant genetic condition such as 22q11DS. Thus, examining social cognition and its relationship to global intellectual function and social behavior in 22q11DS relative to idiopathic neuropsychiatric disorders can facilitate development of more targeted treatment options, and as a result, improve overall quality of life for this group.…”

Section: Introductionmentioning

confidence: 99%

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Social cognition in 22q11.2 deletion syndrome and idiopathic developmental neuropsychiatric disorders

Jalal

Nair

Lin

et al. 2021

J Neurodevelop Disord

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Background 22q11.2 deletion syndrome (22q11DS) is a common recurrent neurogenetic condition associated with elevated risk for developmental neuropsychiatric disorders and intellectual disability. Children and adults with 22q11DS often exhibit marked social impairment as well as neurocognitive deficits, and have elevated rates of both autism spectrum disorder (ASD) and psychosis. However, the relationship between the basic processes of social cognition and cognitive ability has not been well studied in 22q11DS. Here, we examined differences in social cognition in 22q11DS, relative to multiple groups of idiopathic neuropsychiatric disorders, and typically developing healthy controls (HC). Additionally, we examined differences in intellectual functioning and its relationship to social cognitive abilities. Finally, we examined the relationship between social cognitive abilities and real-world social behavior. Methods We examined social cognition and intellectual functioning in 273 participants (mean age = 17.74 ± 5.18% female = 44.3%): 50 with 22q11DS, 49 youth with first episode psychosis (FEP), 48 at clinical high-risk (CHR) for psychosis, 24 participants with ASD, and 102 HC. Social cognition was assessed using The Awareness of Social Inference Test (TASIT), while reciprocal social behavior was assessed via parent/caregiver ratings on the Social Responsiveness Scale (SRS). Participants were also administered the Wechsler Abbreviated Scale of Intelligence, 2nd edition (WASI-II) to assess intellectual functioning. Results The 22q11DS group exhibited significantly lower social cognitive abilities compared to CHR, FEP, and HC groups after controlling for intellectual functioning, but not in comparison to the ASD group. Significant positive correlations were found between social cognition, as measured by the TASIT and IQ across groups. In contrast, no significant relationships were found between TASIT and real-world social behavior (SRS) for any group. Conclusions Our findings indicate social cognitive deficits are more prominent in 22q11DS than idiopathic neuropsychiatric conditions across the age range, even after adjusting for global intellectual function. These results contribute to our understanding of the intellectual and social vulnerabilities of 22q11DS in comparison to idiopathic neuropsychiatric disorders. Our findings of robust associations between intellectual ability and social cognition emphasizes the importance of accounting for neurocognitive deficits in social skills interventions and tailoring these existing treatment models for 22q11DS and other populations with intellectual impairment.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Social cognition in 22q11.2 deletion syndrome and idiopathic developmental neuropsychiatric disorders

Jalal

Nair

Lin

et al. 2021

J Neurodevelop Disord

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“…In the current study we focused on whole genome sequencing, and did not consider targeted analysis sequencing, because this technique is focused on identifying specific genes highly related to a disease, assuming that these are known. Such an assumption can be made only for well documented causes of ASD, such as tuberous sclerosis or Fragile X syndrome, diagnosed in about 15% of individuals with ASD [ 29 ]. This is not the case for “idiopathic ASD”, which represents the majority of all ASD diagnoses.…”

Section: Methodsmentioning

confidence: 99%

Clustering Analysis Supports the Detection of Biological Processes Related to Autism Spectrum Disorder

Gialloreti

Enea²,

Micco

et al. 2020

Genes

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Genome sequencing has identified a large number of putative autism spectrum disorder (ASD) risk genes, revealing possible disrupted biological pathways; however, the genetic and environmental underpinnings of ASD remain mostly unanswered. The presented methodology aimed to identify genetically related clusters of ASD individuals. By using the VariCarta dataset, which contains data retrieved from 13,069 people with ASD, we compared patients pairwise to build “patient similarity matrices”. Hierarchical-agglomerative-clustering and heatmapping were performed, followed by enrichment analysis (EA). We analyzed whole-genome sequencing retrieved from 2062 individuals, and isolated 11,609 genetic variants shared by at least two people. The analysis yielded three clusters, composed, respectively, by 574 (27.8%), 507 (24.6%), and 650 (31.5%) individuals. Overall, 4187 variants (36.1%) were common to the three clusters. The EA revealed that the biological processes related to the shared genetic variants were mainly involved in neuron projection guidance and morphogenesis, cell junctions, synapse assembly, and in observational, imitative, and vocal learning. The study highlighted genetic networks, which were more frequent in a sample of people with ASD, compared to the overall population. We suggest that itemizing not only single variants, but also gene networks, might support ASD etiopathology research. Future work on larger databases will have to ascertain the reproducibility of this methodology.

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“…HC were recruited from each of these ongoing studies, with similar inclusion and exclusion criteria: speci cally, HC subjects could not have a personal or close family history of any major neurodevelopmental or psychiatric disorder or intellectual disability (IQ<70). All CHR, FEP, and ASD, and HC participants were verbally screened for known genetic or medical conditions potentially associated with secondary psychosis or ASD (34,35), and excluded based on known conditions. However, we did not require all our CHR, FEP, ASD and HC participants to undergo genetic testing to con rm the absence of underlying genetic conditions.…”

Section: Participantsmentioning

confidence: 99%

Social Cognition in 22q11.2 Deletion Syndrome and Idiopathic Developmental Neuropsychiatric Disorders

Jalal

Nair

Lin

et al. 2020

Preprint

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Abstract Background: 22q11.2 deletion syndrome (22q11DS) is a common recurrent neurogenetic condition associated with elevated risk for developmental neuropsychiatric disorders and intellectual disability. Children and adults with 22q11DS often exhibit marked social impairment as well as neurocognitive deficits, and have elevated rates of both autism spectrum disorder (ASD) and psychosis. However, the relationship between the basic processes of social cognition and cognitive ability has not been well studied in 22q11DS. Here, we examined differences in social cognition in 22q11DS, relative to multiple groups of idiopathic neuropsychiatric disorders, and typically developing healthy controls (HC). Additionally, we examined differences in intellectual functioning and its relationship to social cognitive abilities. Finally, we examined the relationship between social cognitive abilities and real-world social behavior. Methods: We examined social cognition and intellectual functioning in 273 participants (mean age = 17.74+/-5.18% female = 44.3%): 50 with 22q11DS, 49 youth with first episode psychosis (FEP), 48 at clinical high-risk (CHR) for psychosis, 24 participants with ASD, and 102 HC. Social cognition was assessed using The Awareness of Social Inference Test (TASIT), while reciprocal social behavior was assessed via parent/caregiver ratings on the Social Responsiveness Scale (SRS). Participants were also administered the Wechsler Abbreviated Scale of Intelligence, 2 nd edition (WASI-II) to assess intellectual functioning. Results: The 22q11DS group exhibited significantly lower social cognitive abilities compared to all other groups, even after controlling for intellectual functioning. Significant positive correlations were found between social cognition, as measured by the TASIT, and IQ across groups. In contrast, no significant relationships were found between TASIT and real-world social behavior (SRS) for any group. Conclusions: Our findings indicate social cognitive deficits are more prominent in 22q11DS than idiopathic neuropsychiatric conditions across the age range, even after adjusting for global intellectual function. These results contribute to our understanding of the intellectual and social vulnerabilities of 22q11DS in comparison to idiopathic neuropsychiatric disorders. Our findings of robust associations between intellectual ability and social cognition emphasizes the importance of accounting for neurocognitive deficits in social skills interventions and tailoring these existing treatment models for 22q11DS and other populations with intellectual impairment.

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Editorial: Secondary vs. Idiopathic Autism

Cited by 30 publications

References 16 publications

Social cognition in 22q11.2 deletion syndrome and idiopathic developmental neuropsychiatric disorders

Social cognition in 22q11.2 deletion syndrome and idiopathic developmental neuropsychiatric disorders

Clustering Analysis Supports the Detection of Biological Processes Related to Autism Spectrum Disorder

Social Cognition in 22q11.2 Deletion Syndrome and Idiopathic Developmental Neuropsychiatric Disorders

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