Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

Wenger, Tara L.; Miller, Judith S.; DePolo, Lauren M.; Marchena, Ashley de; Clements, Caitlin C.; Emanuel, Beverly S.; Zackai, Elaine H.; McDonald‐McGinn, Donna M.; Schultz, Robert T.

doi:10.1186/s13229-016-0097-5

Cited by 3 publications

(1 citation statement)

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“…Moss and Howlin (28) provide a comprehensive review of the literature with respect to diagnosing ASD in individuals with genetic syndromes, urging even more caution when attempting to differentiate clinically relevant symptoms of ASD from ID. Results of studies that rely exclusively on scores or cutoffs from standardized measures without following manual-based instructions to carefully consider expert clinical judgment are likely to be especially misleading (52, 53). It is essential that clinicians use all available information about the individual to decide whether social communication skills that are below chronological age expectations are also lower than mental age/developmental expectations.…”

Section: Diagnosing Asd In the Context Of Idmentioning

confidence: 99%

State of the Field: Differentiating Intellectual Disability From Autism Spectrum Disorder

et al. 2019

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The topic of this special issue on secondary versus idiopathic autism allows for discussion of how different groups may come to manifest autism spectrum disorder (ASD) or ASD-like symptoms despite important etiological differences. A related issue is that, because many of the social communication deficits that define ASD represent a failure to acquire developmentally expected skills, these same deficits would be expected to occur to some extent in all individuals with intellectual disability (ID). Thus, regardless of etiology, ASD symptoms may appear across groups of individuals with vastly different profiles of underlying deficits and strengths. In this focused review, we consider the impact of ID on the diagnosis of ASD. We discuss behavioral distinctions between ID and ASD, in light of the diagnostic criterion mandating that ASD should not be diagnosed if symptoms are accounted for by ID or general developmental delay. We review the evolution of the autism diagnosis and ASD diagnostic tools to understand how this distinction has been conceptualized previously. We then consider ways that operationalized criteria may be beneficial for making the clinical distinction between ID with and without ASD. Finally, we consider the impact of the blurred diagnostic boundaries between ID and ASD on the study of secondary versus idiopathic ASD. Especially pertinent to this discussion are findings that a diagnosis of ID in the context of an ASD diagnosis may be one of the strongest indicators that an associated condition or specific etiological factor is present (i.e., secondary autism).

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Section: Diagnosing Asd In the Context Of Idmentioning

confidence: 99%

State of the Field: Differentiating Intellectual Disability From Autism Spectrum Disorder

et al. 2019

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Shared Genetic Determinants of Schizophrenia and Autism Spectrum Disorder Implicate Opposite Risk Patterns: A Genome-Wide Analysis of Common Variants

Chen,

Li,

et al. 2024

Schizophrenia Bulletin

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Background and Hypothesis The synaptic pruning hypothesis posits that schizophrenia (SCZ) and autism spectrum disorder (ASD) may represent opposite ends of neurodevelopmental disorders: individuals with ASD exhibit an overabundance of synapses and connections while SCZ was characterized by excessive pruning of synapses and a reduction. Given the strong genetic predisposition of both disorders, we propose a shared genetic component, with certain loci having differential regulatory impacts. Study Design Genome-Wide single nucleotide polymorphism (SNP) data of European descent from SCZ (N cases = 53 386, N controls = 77 258) and ASD (N cases = 18 381, N controls = 27 969) were analyzed. We used genetic correlation, bivariate causal mixture model, conditional false discovery rate method, colocalization, Transcriptome-Wide Association Study (TWAS), and Phenome-Wide Association Study (PheWAS) to investigate the genetic overlap and gene expression pattern. Study Results We found a positive genetic correlation between SCZ and ASD (rg = .26, SE = 0.01, P = 7.87e−14), with 11 genomic loci jointly influencing both conditions (conjFDR <0.05). Functional analysis highlights a significant enrichment of shared genes during early to mid-fetal developmental stages. A notable genetic region on chromosome 17q21.31 (lead SNP rs2696609) showed strong evidence of colocalization (PP.H4.abf = 0.85). This SNP rs2696609 is linked to many imaging-derived brain phenotypes. TWAS indicated opposing gene expression patterns (primarily pseudogenes and long noncoding RNAs [lncRNAs]) for ASD and SCZ in the 17q21.31 region and some genes (LRRC37A4P, LINC02210, and DND1P1) exhibit considerable variation in the cerebellum across the lifespan. Conclusions Our findings support a shared genetic basis for SCZ and ASD. A common genetic variant, rs2696609, located in the Chr17q21.31 locus, may exert differential risk regulation on SCZ and ASD by altering brain structure. Future studies should focus on the role of pseudogenes, lncRNAs, and cerebellum in synaptic pruning and neurodevelopmental disorders.

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A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants

Chawner

Doherty

Anney

et al. 2020

Preprint

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Objective: Certain copy number variants (CNVs) greatly increase risk of autism. We conducted a genetics-first study to investigate whether heterogeneity in the clinical presentation of autism is underpinned by specific genotype-phenotype relationships. Methods: This international study included 566 children (12.3 years (SD=4.2), 51% male) who were ascertained on the basis of having a genetic diagnosis of a rare CNV associated with high risk of autism (83 16p11.2 deletion carriers, 50 16p11.2 duplication carriers, 380 22q11.2 deletion carriers and 53 22q11.2 duplication carriers), as well as 2027 children (9.1 years (SD=4.9), 87% male) with autism of heterogeneous aetiology. The Autism Diagnostic Interview-Revised (ADI-R) and IQ testing were conducted. Results: The four genetic variant groups differed in autism severity, autism subdomain profile as well as IQ profile. However, we found substantial variability in phenotypic outcome within individual genetic variant groups (75% to 96% of the variance depending on the trait), whereas variability between groups was low (1% to 21% depending on trait). We compared CNV carriers who met autism criteria, to children with heterogeneous autism, and a range of profile differences were identified. Using clinical cut-offs, we found that 54% of children with one of the 4CNVs who did not meet full autism diagnostic criteria nonetheless had elevated levels of autistic traits. Conclusion: Many CNV carriers do not meet full diagnostic criteria for autism, but nevertheless meet clinical cut-offs for autistic traits. Although we find profile differences between variants, there is considerable variability in clinical symptoms within the same variant.

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Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

Cited by 3 publications

References 1 publication

State of the Field: Differentiating Intellectual Disability From Autism Spectrum Disorder

State of the Field: Differentiating Intellectual Disability From Autism Spectrum Disorder

Shared Genetic Determinants of Schizophrenia and Autism Spectrum Disorder Implicate Opposite Risk Patterns: A Genome-Wide Analysis of Common Variants

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants

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