Browsing by Subject "autism"

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    Empathy in autism spectrum disorder: Predictions from child/adolescent temperament, parenting styles, and parenting stress
    (2019) Ross, Toni Carmen Faith; Malcolm-Smith, Susan; Hamilton, Katie
    Individuals with autism spectrum disorder (ASD) exhibit definitional impairments in social relatedness; a phenomenon that can be explained, in part, by their deficits in empathy. Despite the extent of these deficits, relatively little is known about which factors promote or impede empathic functioning within this group. To date, studies of neurotypical children and adolescents suggest the explanatory power of temperament, parenting style, and parenting stress; associations which have yet to be adequately explored with ASD. Thus, the overarching aim of this investigation was to test whether the aforementioned intra- and interindividual features would predict empathy amongst children and adolescents with ASD. To account for some of the heterogeneity in ASD, two groups of parent-child dyads were recruited: one comprising male children and adolescents with intact receptive and expressive language (n = 40, M = 7.68 years); the other, males with little to no language use in either domain (n = 40, M = 9.09 years). A third group of parent-child pairs comprising male neurotypical children and adolescents with age-appropriate language functioning was included as a comparison sample (n = 40, M = 9.53 years). Parents completed wellestablished questionnaires pertaining to child/adolescent temperament and empathy, as well as parenting style and parenting stress, primarily via telephonic interviews. Results showed that temperamental regulation and negative affectivity were linked to empathy within the neurotypical group in positive and inverse directions, respectively. Only regulatory processes were positively associated with empathy within the non-verbal ASD group, whilst only negative affectivity was inversely associated to empathy within the verbal ASD group. Further, warm, responsive, autonomy-promoting parenting was positively associated with empathy within the neurotypical group, whilst punitive and lax parenting were inversely associated with empathy. Positive forms of parenting were also found to predict empathy within both ASD groups ā€“ though somewhat less so within the verbal ASD group. Perhaps a consequence of the severity of their empathic deficits, lax and permissive parenting techniques were not tied to empathy within the ASD groups. Finally, parenting stress was inversely linked to empathy within the non-verbal ASD and neurotypical groups only. Results highlight that findings obtained within neurotypical samples cannot always be extrapolated to ASD. Results further underscore the need for ASD interventions to adopt a family systems perspective, teaching parents how to perceive and respond to their children in adaptive ways.
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    Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture
    (2013) Davis, Lea K; Yu, Dongmei; Keenan, Clare L; Gamazon, Eric R; Konkashbaev, Anuar I; Derks, Eske M; Neale, Benjamin M; Yang, Jian; Lee, S Hong; Evans, Patrick; Barr, Cathy L; Bellodi, Laura; Benarroch, Fortu; BerriĆ³, Gabriel Bedoya; Bienvenu, Oscar J; Bloch, Michael H; Blom, Rianne M; Bruun, Ruth D; Budman, Cathy L; Camarena, Beatriz; Campbell, Desmond; Cappi, Carolina; Cardona Silgado, Julio C; Cath, Danielle C; Cavallini, Maria C; Chavira, Denise A; Chouinard, Sylvain; Conti, David V; Cook, Edwin H; Coric, Vladimir; Cullen, Bernadette A; Deforce, Dieter
    The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures.
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    The effectiveness of a brief home-based naturalistic language intervention on the spoken language abilities of children with autism in the Western Cape
    (2022) Theron, Caroline; Harty, Michal
    Background: Naturalistic Developmental Behavioural Interventions (NDBIs) have shown to have a positive effect on cognitive and social outcomes of children with Autism Spectrum Disorder (ASD) though very few NDBIs have been implemented in low- and middle-income countries (LMIC). Challenges in accessing evidence-based interventions for many families of children with ASD living in LMIC exists due to the cost of travel, the remote locations of services, limited availability of services, and/or the financial implications thereof. Providing intervention in the child with ASD's home context may be one way for children to access intervention services needed. Enhanced Milieu Teaching (EMT) has shown to be effective in providing support to language development in children from LMIC. This study expands on previous research and literature by examining the effectiveness of clinician-implemented EMT when administered in the home context of children with ASD in low-resource settings in Cape Town, South Africa. Objectives: The study's objectives were to determine; i) Does the use of clinician implemented EMT within the home environment of children with ASD living with their families in the Metropolitan area of Cape Town, Western Cape increase the child's communication abilities, in particular the number of different words a child uses, ii) Do the communication gains made during the intervention generalise to the child's spoken language interactions with their primary caregivers? Methods: A single case study with multiple baseline design examined the effects of clinician-implemented home-based EMT intervention on the diversity and frequency of spoken language of young children with ASD in South Africa. Intervention sessions occurred in the homes of three young children with ASD between the ages of 45 and 72 months. Each participant presented with minimally verbal language abilities producing 1 word or less per minute at the start of the study, with an age equivalent of 20 months for their expressive language on the PLS-5. The participants received a minimum of 12 bi-weekly intervention sessions within their home context. Results: A 10-minute segment for each session was transcribed and coded using the Systematic Analysis of Language Transcripts (SALT; Miller & Chapman, 2008) using a prescribed EMT code. Results from the baseline and intervention sessions tracked the number of different words (NDW) used by the participants and was graphed to determine the effect of introducing the EMT intervention on the dependent variable. A functional relationship was demonstrated between the introduction of EMT and the increases in the NDW used for the three participants. The percentage of nonoverlapping data between the baseline and intervention sessions was above 92% for all participants. Evidence of generalisation of their spoken language abilities to interactions with their parents were observed. Conclusion: A functional relationship between the introduction of the EMT intervention and the increase in the participant's spoken language abilities indicated that EMT may be effective for improving spoken language skills of minimally verbal children with ASD when implemented in the home context by a trained clinician. Providing intervention services within a child with ASD's home context in South Africa is feasible and offers some relief from the logistical and financial strain placed on families of children with ASD in accessing services. The current findings may assist in determining ways to train parents in the implementation of EMT within their home context.