Investigating the Evidence of Behavioral, Cognitive, and Psychiatric Endophenotypes in Autism: A Systematic Review

Ruparelia, K; Manji, Karim; Abubakar, Amina; Newton, Charles R.

doi:10.1155/2017/6346912

Cited by 17 publications

(10 citation statements)

References 74 publications

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“…Our results show that behavioral flexibility and response inhibition ability are reduced in both probands and their parents and, importantly, that difficulty inhibiting prepotent responses is familial in ASD. While previous studies indicate the presence of a broader range of subclinical characteristics associated with ASD in unaffected parents than BAP traits alone (i.e., psychiatric, sensorimotor, and neuroanatomical features [18, 20, 42, 43];), this is the first known study to document the inter-correlation of a neurocognitive trait among individuals with ASD and their unaffected biological parents. This finding provides novel evidence that reductions in the ability to inhibit behavioral responses reflect a quantifiable dimension of inter-generational risk for ASD.…”

Section: Discussionmentioning

confidence: 85%

Familiality of behavioral flexibility and response inhibition deficits in autism spectrum disorder (ASD)

et al. 2019

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BackgroundDiminished cognitive control, including reduced behavioral flexibility and behavioral response inhibition, has been repeatedly documented in autism spectrum disorder (ASD). We evaluated behavioral flexibility and response inhibition in probands and their parents using a family trio design to determine the extent to which these cognitive control impairments represent familial traits associated with ASD.MethodsWe examined 66 individuals with ASD (probands), 135 unaffected biological parents, and 76 typically developing controls. Participants completed a probabilistic reversal learning task (PRL) and a stop-signal task (SST) to assess behavioral flexibility and response inhibition respectively. Rates of PRL and SST errors were examined across groups, within families, and in relation to clinical and subclinical traits of ASD. Based on prior findings that subclinical broader autism phenotypic (BAP) traits may co-segregate within families and reflect heritable risk factors, we also examined whether cognitive control deficits were more prominent in families in which parents showed BAP features (BAP+).ResultsProbands and parents each showed increased rates of PRL and SST errors relative to controls. Error rates across tasks were not related. SST error rates inter-correlated among probands and their parents. PRL errors were more severe in BAP+ parents and their children relative to BAP− parents and their children. For probands of BAP+ parents, PRL and SST error rates were associated with more severe social-communication abnormalities and repetitive behaviors, respectively.ConclusionReduced behavioral flexibility and response inhibition are present among probands and their unaffected parents, but represent unique familial deficits associated with ASD that track with separate clinical issues. Specifically, behavioral response inhibition impairments are familial in ASD and manifest independently from parental subclinical features. In contrast, behavioral flexibility deficits are selectively present in families with BAP characteristics, suggesting they co-segregate in families with parental subclinical social, communication, and rigid personality traits. Together, these findings provide evidence that behavioral flexibility and response inhibition impairments track differentially with ASD risk mechanisms and related behavioral traits.

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Section: Discussionmentioning

confidence: 85%

Familiality of behavioral flexibility and response inhibition deficits in autism spectrum disorder (ASD)

et al. 2019

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“…While estimates vary, there is general agreement that heritability is greater than 50%,42 with first degree relatives having a higher risk for developing autism relative to the general population. First degree relatives without a clinical diagnosis have a “broader autism phenotype” with subclinical traits similar to those seen in autism 4344. For example, later born siblings who do not have autism exhibit some autistic symptoms and lower levels of functioning compared with the general population 45…”

Section: Risk Factorsmentioning

confidence: 99%

Linking risk factors and outcomes in autism spectrum disorder: is there evidence for resilience?

Elsabbagh

2020

BMJ

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Autism spectrum disorder (referred to here as autism) is one of several overlapping neurodevelopmental conditions that have variable impacts on different individuals. This variability results from dynamic interactions between biological and non-biological risk factors, which result in increasing differentiation between individuals over time. Although this differentiation continues well into adulthood, the infancy period is when the brain and behavior develop rapidly, and when the first signs and symptoms of autism emerge. This review discusses advances in our understanding of the causal pathways leading to autism and overlapping neurodevelopmental conditions. Research is also mapping trajectories of brain and behavioral development for some risk groups, namely later born siblings of children with autism and/or infants referred because of developmental concerns. This knowledge has been useful in improving early identification and establishing the feasibility of targeted interventions for infant risk groups before symptoms arise. However, key knowledge gaps remain, such as the discovery of protective factors (biological or environmental) that may mitigate the impact of risk. Also, the dynamic mechanisms that underlie the associations between risk factors and outcomes need further research. These include the processes of resilience, which may explain why some individuals at risk for autism achieve better than expected outcomes. Bridging these knowledge gaps would help to provide tools for early identification and intervention that reflect dynamic developmental pathways from risk to outcomes.

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“…Personality traits such as "cognitive rigidity" have been implicated in ASD, and may extend to first-degree relatives too. 12 Meta-analysis of the "Big 5" personality traits found that ASD was associated with lower openness, lower conscientiousness, lower extraversion, lower agreeableness, and lower emotional stability. 13 Further complicating this relationship between autistic traits and addiction is the fact that autistic traits commonly co-occur with ADHD symptoms, 14 which in turn also commonly co-occur with addictions such as problem gambling.…”

Section: Introductionmentioning

confidence: 99%

Autistic traits in young adults who gamble

Grant

Chamberlain

2020

CNS Spectr.

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Background. Little is known about the relationship between autistic traits and addictive behaviors such as problem gambling. Thus, the present study examined clinical characteristics and multiple facets of cognition in young adults who gamble and have autistic traits. Methods. A total of 102 young adults who gamble were recruited from two Mid-Western university communities in the United States using media advertisements. Autistic traits were examined using the brief Autism-Spectrum Quotient (AQ-10). Clinician rating scales, questionnaires, and cognitive tests were completed. Relationships between AQ10 scores and demographic, gambling symptom, and neurocognitive measures were evaluated. Results. Autistic traits were correlated with disordered gambling symptoms, attention-deficit/hyperactivity disorder (ADHD) symptoms, trait impulsivity, and some types of obsessive–compulsive symptoms. In regression, ADHD no longer significantly related to autistic traits once disordered gambling symptoms were accounted for; whereas the link between autistic traits and disordered gambling symptoms was robust even controlling for ADHD. Conclusions. These data suggest a particularly strong relationship between autistic traits and problem gambling symptoms, as well as certain aspects of impulsivity and compulsivity. The link between ADHD and autistic traits in some prior studies may have been attributable to disordered gambling symptoms, which was likely not screened for, and since individuals may endorse ADHD instruments due to other impulsive/compulsive symptom types (eg, gambling). The contribution of autistic traits to the emergence and chronicity of disordered gambling now requires further scrutiny, not only in community samples (such as this) but also in clinical settings.

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Investigating the Evidence of Behavioral, Cognitive, and Psychiatric Endophenotypes in Autism: A Systematic Review

Cited by 17 publications

References 74 publications

Familiality of behavioral flexibility and response inhibition deficits in autism spectrum disorder (ASD)

Familiality of behavioral flexibility and response inhibition deficits in autism spectrum disorder (ASD)

Linking risk factors and outcomes in autism spectrum disorder: is there evidence for resilience?

Autistic traits in young adults who gamble

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