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2 results on '"Stoencheva V"'

1. The Neuroanatomy of Autism Spectrum Disorder Symptomatology in 22q11.2 Deletion Syndrome.

Author

Gudbrandsen, M, Daly, E, Murphy, CM, Wichers, RH, Stoencheva, V, Perry, E, Andrews, D, Blackmore, CE, Rogdaki, M, Kushan, L, Bearden, CE, Murphy, DGM, Craig, MC, and Ecker, C

Subjects
Brain Disorders, Autism, Pediatric, Mental Health, Neurosciences, Clinical Research, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Autism Spectrum Disorder, Brain, Case-Control Studies, Child, DiGeorge Syndrome, Entorhinal Cortex, Female, Gyrus Cinguli, Humans, Male, Organ Size, Parietal Lobe, Prefrontal Cortex, Temporal Lobe, Young Adult, 22q11.2 Deletion Syndrome, autism spectrum disorder, brain anatomy, neurodevelopment, surface based morphometry, Psychology, Cognitive Sciences, Experimental Psychology
Abstract

22q11.2 Deletion Syndrome (22q11.2DS) is a genetic condition associated with a high prevalence of neuropsychiatric conditions that include autism spectrum disorder (ASD). While evidence suggests that clinical phenotypes represent distinct neurodevelopmental outcomes, it remains unknown whether this translates to the level of neurobiology. To fractionate the 22q11.2DS phenotype on the level of neuroanatomy, we examined differences in vertex-wise estimates of cortical volume, surface area, and cortical thickness between 1) individuals with 22q11.2DS (n = 62) and neurotypical controls (n = 57) and 2) 22q11.2DS individuals with ASD symptomatology (n = 30) and those without (n = 25). We firstly observed significant differences in surface anatomy between 22q11.2DS individuals and controls for all 3 neuroanatomical features, predominantly in parietotemporal regions, cingulate and dorsolateral prefrontal cortices. We also established that 22q11.2DS individuals with ASD symptomatology were neuroanatomically distinct from 22q11.2DS individuals without ASD symptoms, particularly in brain regions that have previously been linked to ASD (e.g., dorsolateral prefrontal cortices and the entorhinal cortex). Our findings indicate that different clinical 22q11.2DS phenotypes, including those with ASD symptomatology, may represent different neurobiological subgroups. The spatially distributed patterns of neuroanatomical differences associated with ASD symptomatology in 22q11.2DS may thus provide useful information for patient stratification and the prediction of clinical outcomes.

Published
2019

2. Predicting the diagnosis of autism in adults using the Autism-Spectrum Quotient (AQ) questionnaire

Author

Ashwood, K. L., Gillan, N., Horder, J., Hayward, Hannah, Woodhouse, E., Mcewen, F. S., Findon, J., Eklund, H., Spain, D., Wilson, C. E., Cadman, T., Young, Susan, Stoencheva, V., Murphy, Clodagh, Robertson, Dene, Charman, T., Bolton, Philip, Glaser, K., Asherson, P., Simonoff, E., and Murphy, D. G.

Subjects
Adult, Male, DISORDERS, Autism Spectrum Disorder, Autism, autism spectrum disorders, Psychology, Clinical, Social Sciences, CHILDREN, Comorbidity, behavioral disciplines and activities, ASD, Sensitivity and Specificity, Young Adult, Predictive Value of Tests, Surveys and Questionnaires, mental disorders, Psychology, Humans, VALIDITY, UNITED-KINGDOM, Psychiatry, Psychiatric Status Rating Scales, Science & Technology, neurodevelopmental disorders, screening, Original Articles, self-report, PREVALENCE, INTERVIEW, INDIVIDUALS, 1117 Public Health And Health Services, 1701 Psychology, Female, Self Report, 1109 Neurosciences, Life Sciences & Biomedicine
Abstract

BackgroundMany adults with autism spectrum disorder (ASD) remain undiagnosed. Specialist assessment clinics enable the detection of these cases, but such services are often overstretched. It has been proposed that unnecessary referrals to these services could be reduced by prioritizing individuals who score highly on the Autism-Spectrum Quotient (AQ), a self-report questionnaire measure of autistic traits. However, the ability of the AQ to predict who will go on to receive a diagnosis of ASD in adults is unclear.MethodWe studied 476 adults, seen consecutively at a national ASD diagnostic referral service for suspected ASD. We tested AQ scores as predictors of ASD diagnosis made by expert clinicians according to International Classification of Diseases (ICD)-10 criteria, informed by the Autism Diagnostic Observation Schedule-Generic (ADOS-G) and Autism Diagnostic Interview-Revised (ADI-R) assessments.ResultsOf the participants, 73% received a clinical diagnosis of ASD. Self-report AQ scores did not significantly predict receipt of a diagnosis. While AQ scores provided high sensitivity of 0.77 [95% confidence interval (CI) 0.72–0.82] and positive predictive value of 0.76 (95% CI 0.70–0.80), the specificity of 0.29 (95% CI 0.20–0.38) and negative predictive value of 0.36 (95% CI 0.22–0.40) were low. Thus, 64% of those who scored below the AQ cut-off were ‘false negatives’ who did in fact have ASD. Co-morbidity data revealed that generalized anxiety disorder may ‘mimic’ ASD and inflate AQ scores, leading to false positives.ConclusionsThe AQ's utility for screening referrals was limited in this sample. Recommendations supporting the AQ's role in the assessment of adult ASD, e.g. UK NICE guidelines, may need to be reconsidered.

Published
2016
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