Dataset Information

Cortical Gyrification Morphology in ASD and ADHD: Implication for Further Similarities or Disorder-Specific Features?

ABSTRACT: Shared etiological pathways are suggested in ASD and ADHD given high rates of comorbidity, phenotypic overlap and shared genetic susceptibility. Given the peak of cortical gyrification expansion and emergence of ASD and ADHD symptomology in early development, we investigated gyrification morphology in 539 children and adolescents (6-17 years of age) with ASD (n=197) and ADHD (n=96) compared to typically developing controls (n=246) using the local Gyrification Index (lGI) to provide insight into contributing etiopathological factors in these two disorders. We also examined IQ effects and functional implications of gyrification by exploring the relation between lGI and ASD and ADHD symptomatology beyond diagnosis. General Linear Models yielded no group differences in lGI, and across groups, we identified an age-related decrease of lGI and greater lGI in females compared to males. No diagnosis-by-age interactions were found. Accounting for IQ variability in the model (n=484) yielded similar results. No significant associations were found between lGI and social communication deficits, repetitive and restricted behaviours, inattention or adaptive functioning. By examining both disorders and controls using shared methodology, we found no evidence of atypicality in gyrification as measured by the lGI in these conditions.

SUBMITTER: Gharehgazlou A

PROVIDER: S-EPMC9157290 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature

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Cortical Gyrification Morphology in ASD and ADHD: Implication for Further Similarities or Disorder-Specific Features?

Gharehgazlou Avideh A Vandewouw Marlee M Ziolkowski Justine J Wong Jimmy J Crosbie Jennifer J Schachar Russell R Nicolson Rob R Georgiades Stelios S Kelley Elizabeth E Ayub Muhammad M Hammill Christopher C Ameis Stephanie H SH Taylor Margot J MJ Lerch Jason P JP Anagnostou Evdokia E

Cerebral cortex (New York, N.Y. : 1991) 20220501 11

Shared etiological pathways are suggested in ASD and ADHD given high rates of comorbidity, phenotypic overlap and shared genetic susceptibility. Given the peak of cortical gyrification expansion and emergence of ASD and ADHD symptomology in early development, we investigated gyrification morphology in 539 children and adolescents (6-17 years of age) with ASD (n=197) and ADHD (n=96) compared to typically developing controls (n=246) using the local Gyrification Index (lGI) to provide insight into ...[more]

PMID: 34550324

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Project description:Post-traumatic stress disorder (PTSD) is a prevalent psychiatric disorder, particularly among military personnel and veterans. Cortical gyrification, as a specific metric derived from structural MRI, is an index of the convoluted folding and patterning of the gyri and sulci, and is thought to facilitate the efficiency of local neuronal wiring. It has the potential to act as a neurobiological risk factor for emergent psychiatric disorders - to date, it has been understudied in PTSD. Here, using a local measure of the degree of gyrification (local Gyrification Index, lGI) we investigate cortical gyrification morphology in 48 adult male soldiers with (n = 23) and without (n = 25) a PTSD diagnosis. We also examine the relation between lGI and PTSD severity within the PTSD group. General linear models yielded significant between-group differences with greater lGI found in PTSD in a cluster located in the medial occipito-parietal lobe on the left hemisphere and reduced lGI in a cluster located on the lateral surface of the parietal lobe on the right hemisphere. Brain-behaviour analyses within the PTSD group yielded significant positive associations between lGI and PTSD severity in a cluster located in the frontal cortex of the left hemisphere and scattered clusters located within all lobes of the right hemisphere. After accounting for the effects of comorbid psychiatric symptoms common in PTSD, the associations in the right hemisphere reduced to clusters only located in the frontal lobe, while the cluster in the left hemisphere remained significant. Our results suggest that atypical cortical gyrification in parietal and occipital regions may be implicated in the psychopathology of PTSD diagnosis, and properties of prefrontal gyrification associated with the emergent severity of PTSD after trauma. The importance of these regions in PTSD may be attributed to a pre-existing neurobiological risk factor, or neuromorphological changes after trauma precipitating emergent psychiatric illness. Our brain-behaviour relations provide support for the existing literature by highlighting the importance of the frontal lobe in the pathogenesis of PTSD. Future large-scale longitudinal studies including female participants may infer causal implications of atypical gyrification in PTSD and shed light on the potential effect of sex on this brain metric.

Project description:We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1; MIM*601178). CAPRIN1 encodes a ubiquitous protein that regulates the transport and translation of neuronal mRNAs critical for synaptic plasticity, as well as mRNAs encoding proteins important for cell proliferation and migration in multiple cell types. We identified 12 cases with loss-of-function CAPRIN1 variants, and a neurodevelopmental phenotype characterized by language impairment/speech delay (100%), intellectual disability (83%), attention deficit hyperactivity disorder (82%) and autism spectrum disorder (67%). Affected individuals also had respiratory problems (50%), limb/skeletal anomalies (50%), developmental delay (42%) feeding difficulties (33%), seizures (33%) and ophthalmologic problems (33%). In patient-derived lymphoblasts and fibroblasts, we showed a monoallelic expression of the wild-type allele, and a reduction of the transcript and protein compatible with a half dose. To further study pathogenic mechanisms, we generated sCAPRIN1+/- human induced pluripotent stem cells via CRISPR-Cas9 mutagenesis and differentiated them into neuronal progenitor cells and cortical neurons. CAPRIN1 loss caused reduced neuronal processes, overall disruption of the neuronal organization and an increased neuronal degeneration. We also observed an alteration of mRNA translation in CAPRIN1+/- neurons, compatible with its suggested function as translational inhibitor. CAPRIN1+/- neurons also showed an impaired calcium signalling and increased oxidative stress, two mechanisms that may directly affect neuronal networks development, maintenance and function. According to what was previously observed in the mouse model, measurements of activity in CAPRIN1+/- neurons via micro-electrode arrays indicated lower spike rates and bursts, with an overall reduced activity. In conclusion, we demonstrate that CAPRIN1 haploinsufficiency causes a novel autosomal dominant neurodevelopmental disorder and identify morphological and functional alterations associated with this disorder in human neuronal models.

Dataset Information

Cortical Gyrification Morphology in ASD and ADHD: Implication for Further Similarities or Disorder-Specific Features?

Publications

Cortical Gyrification Morphology in ASD and ADHD: Implication for Further Similarities or Disorder-Specific Features?

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