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Core-Symptom-Defined Cortical Gyrification Differences in Autism Spectrum Disorder.

ABSTRACT: Autism spectrum disorder (ASD) is a heterogeneous disease that is characterized by abnormalities in social communication and interaction as well as repetitive behaviors and restricted interests. Structural brain imaging has identified significant cortical folding alterations in ASD; however, relatively less known is whether the core symptoms are related to neuroanatomical differences. In this study, we aimed to explore core-symptom-anchored gyrification alterations and their developmental trajectories in ASD. We measured the cortical vertex-wise gyrification index (GI) in 321 patients with ASD (aged 7-39 years) and 350 typically developing (TD) subjects (aged 6-33 years) across 8 sites from the Autism Brain Imaging Data Exchange I (ABIDE I) repository and a longitudinal sample (14 ASD and 7 TD, aged 9-14 years in baseline and 12-18 years in follow-up) from ABIDE II. Compared with TD, the general ASD patients exhibited a mixed pattern of both hypo- and hyper- and different developmental trajectories of gyrification. By parsing the ASD patients into three subgroups based on the subscores of the Autism Diagnostic Interview-Revised (ADI-R) scale, we identified core-symptom-specific alterations in the reciprocal social interaction (RSI), communication abnormalities (CA), and restricted, repetitive, and stereotyped patterns of behavior (RRSB) subgroups. We also showed atypical gyrification patterns and developmental trajectories in the subgroups. Furthermore, we conducted a meta-analysis to locate the core-symptom-anchored brain regions (circuits). In summary, the current study shows that ASD is associated with abnormal cortical folding patterns. Core-symptom-based classification can find more subtle changes in gyrification. These results suggest that cortical folding pattern encodes changes in symptom dimensions, which promotes the understanding of neuroanatomical basis, and clinical utility in ASD.

SUBMITTER: Ning M

PROVIDER: S-EPMC8093770 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundThe 1.6 Mb 3q29 deletion is associated with neurodevelopmental and neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder (ASD). Previous work by our team identified elevated social disability in this population via parent-report questionnaires. However, clinical features of ASD in this population have not been explored in detail.MethodsThirty-one individuals with 3q29 deletion syndrome (3q29del, 61.3% male) were evaluated using two gold-standard clinical ASD evaluations: the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and the Autism Diagnostic Interview, Revised (ADI-R). Four matched comparators for each subject were ascertained from the National Database for Autism Research. Item-level scores on the ADOS-2 and ADI-R were compared between subjects with 3q29del and matched comparators.ResultsSubjects with 3q29del and no ASD (3q29del-ASD) had greater evidence of social disability compared to typically developing (TD) comparison subjects across the ADOS-2. Subjects with 3q29del and ASD (3q29del + ASD) were largely indistinguishable from non-syndromic ASD (nsASD) subjects on the ADOS-2. 3q29del + ASD performed significantly better on social communication on the ADI-R than nsASD (3q29 + ASD mean = 11.36; nsASD mean = 15.70; p = 0.01), and this was driven by reduced deficits in nonverbal communication (3q29 + ASD mean = 1.73; nsASD mean = 3.63; p = 0.03). 3q29del + ASD reported significantly later age at the first two-word phrase compared to nsASD (3q29del + ASD mean = 43.89 months; nsASD mean = 37.86 months; p = 0.01). However, speech delay was not related to improved nonverbal communication in 3q29del + ASD.LimitationsThere were not enough TD comparators with ADI-R data in NDAR to include in the present analysis. Additionally, our relatively small sample size made it difficult to assess race and ethnicity effects.Conclusions3q29del is associated with significant social disability, irrespective of ASD diagnosis. 3q29del + ASD have similar levels of social disability to nsASD, while 3q29del-ASD have significantly increased social disability compared to TD individuals. However, social communication is reasonably well preserved in 3q29del + ASD relative to nsASD. It is critical that verbal ability and social disability be examined separately in this population to ensure equal access to ASD and social skills evaluations and services.

Project description:Although reduced social attention and increased nonsocial attention have been reported in individuals with autism spectrum disorder (ASD), the studies have relied on predominantly male samples and have been underpowered to examine sex differences. These processes may differ for females with ASD, who have been shown to be dissimilar to males in social motivation and nonsocial features, including circumscribed interests (CI). The goal of this study was to compare social and nonsocial visual attention between males and females with ASD on a validated eye-tracking paradigm. Eighty-five school-aged (6-10 years) males and females with and without ASD completed a paired preference task of face and object stimuli (half of which related to common CI). After covarying for chronological and mental age, the presence of concurrently presented CI images reduced prioritization and attention to faces for males more than females, replicating previous findings. ASD females maintained comparable attention patterns to typically developing females, suggesting that previous findings of reduced social attention and increased attention to CI-related objects in autism may be specific to males. These findings are also inconsistent with the "extreme male brain" theory of autism. The more normative orienting and attention to social stimuli for females with ASD may indicate distinct phenotypic characteristics relative to males and possibly serve as a protective effect. Autism Res 2018, 11: 1264-1275. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: As autism is more commonly diagnosed in males, less is known about females with autism. Two areas of interest include the interests held by individuals with autism and how socially motivated they are. We used eye tracking as a way to understand these two areas. Our data reveal that elementary school-aged females (6-10 years) with autism attended to faces comparatively to females without autism, suggesting that (1) they were more socially motivated than males with autism and (2) the images of common interests were less motivating to them.

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Core-Symptom-Defined Cortical Gyrification Differences in Autism Spectrum Disorder.

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