Program evaluation of an adapted PEERS® social skills program in young adults with autism spectrum disorder and/or mild intellectual impairment and social skills difficulties

Rationale, Aims and Objectives: Social challenges are common for young adults with autism spectrum disorder (ASD) and/or mild intellectual impairment, yet few evidence-based interventions exist to address these challenges. PEERS®, the Program for the Education and Enrichment of Relational Skills, has been shown to be effective in improving the social skills of young adults with ASD; however, it requires a significant time commitment for parents of young adults. As such, this mixed-methods study aimed to investigate the experiences of young adults, parents and PEERS® social coaches participating in an adapted PEERS® program, and to evaluate its acceptability and efficacy. Method: Young adults with ASD and/or mild intellectual impairment participated in a 16-week PEERS® program. Parents and PEERS® social coaches attended fewer, condensed sessions, where they learnt program content to support the young adults' social skill development at home and in the community. Focus groups were conducted post intervention. Quantitative pre−post assessment using the Social and Emotional Loneliness Scale for Adults, the Test of Young Adult Social Skills Knowledge, and Quality of Socialization Questionnaire-Young Adults was completed by young adults. The Social Responsiveness Scale Second Edition was completed by young adults and their parents. Result: Qualitative results revealed that, taken together, young adults, parents and PEERS® social coaches all felt that the adapted PEERS® program was ‘challenging, but worth it’. The program was acceptable with a 93% attendance rate across all sessions. Whilst young adults' perceptions of their own social functioning did not change post-intervention, their knowledge of social skills content improved significantly (p < 0.05). Parent perceptions of young adults' social responsiveness also improved (p < 0.05). Conclusions: Social skill knowledge, social responsiveness, and social engagement improved significantly following the completion of the adapted PEERS® program. It was deemed acceptable and worthwhile by young adults, their parents and PEERS® social coaches

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

''Just like you'', a disability awareness programme for children : pilot study findings

Background: The participation of people with disabilities is impacted upon by environmental and contextual factors including attitudes, as well as their intrinsic disability. Disability awareness programmes aim to increase knowledge and acceptance of disability, thereby improving attitudes towards disability and ultimately facilitating participation. Objectives: To investigate the attitudes of 9–11 year old Australian school children towards disability and evaluate a new disability awareness programme. Design: For this pilot study a mixed-method approach was used including quantitative (pre-post questionnaire evaluation) and qualitative (focus group) methods. Participants/Setting: 147 primary school students, aged 9– 11 years, participated at three Sydney schools. This pilot study used convenience sampling of schools where working relationships already existed. Materials/Methods: The ‘Just Like You’ programme utilises a cognitive-behavioural approach with the aim of increasing knowledge, awareness and acceptance of disability. It involves two speakers, one with a disability, presenting two 90-minute sessions approximately two weeks apart within class time. Sessions include information, discussions, written activities, demonstrations, disability simulation activities and extended time with a person with a disability. A questionnaire designed specifically for this research was administered before and after the programme, evaluating the programme’s effect on knowledge, awareness and acceptance of disability. Teachers also completed an evaluation questionnaire. Focus groups were conducted with a sample of students (16%) to gain an understanding of their attitudes towards disability and perceptions of the programme. Results: Intervention effects: Quantitative questionnaire results demonstrated high knowledge and positive attitudes towards disability even at baseline. Following intervention, a statistically significant improvement (p < 0.001) was shown with a 10% increase in scores. Focus group responses further confirmed improved knowledge and perceptions of disability. Program evaluation: Questionnaire results indicate that the majority of participants liked the programme. Participants identified the most important thing they learned as ‘people with disabilities are just like us’ (25%), ‘how to treat people with a disability’ (22%), and ‘that people with disabilities can do lots of things’ (10%). Teachers’ responses to the programme consistently scored within the ‘good-excellent’ range on all items (relevance, fit with school curricula, student engagement, content and participation). Focus group participants reported almost exclusively positive feedback regarding the programme, and in particular emphasised the positive impact of the facilitator with a disability. Conclusions/Clinical Implications: The disability awareness program for upper primary school children increased knowledge, awareness and perceptions of disability in the shortterm. Phase 2 of this research will explore the influence of improved disability awareness on behaviour change and the participation of people with disabilities

‘Just like you’: A disability awareness programme for children that enhanced knowledge, attitudes and acceptance: Pilot study findings

Purpose: Participation of people with disabilities is influenced by environmental and contextual factors. Disability awareness programmes aim to increase knowledge and acceptance of disability. This study evaluated a disability awareness programme for students aged 9–11 in Australia. Method: Pre–post questionnaires and focus groups evaluated the programme. The intervention took a cognitive-behavioural approach including a person with a disability co-presenting. Students (n = 147) participated in two sessions of discussions, written activities, demonstrations and disability simulation activities. Results: Significant improvements (p \u3c 0.001) in knowledge, attitudes and acceptance of disability were evident immediately following the intervention. Focus group analyses further demonstrated these findings. Conclusions: A brief disability awareness programme for children improved knowledge, attitudes and acceptance of disability in the short-term. Further research is required to identify the potential impact of such programmes on inclusion and social participation of people with disabilities both inside and outside of the school setting

Optimization of adsorptive removal of α-toluic acid by CaO2 nanoparticles using response surface methodology

The present work addresses the optimization of process parameters for adsorptive removal of α-toluic acid by calcium peroxide (CaO2) nanoparticles using response surface methodology (RSM). CaO2 nanoparticles were synthesized by chemical precipitation method and confirmed by Transmission electron microscopy (TEM) and high-resolution TEM (HRTEM) analysis which shows the CaO2 nanoparticles size range of 5–15 nm. A series of batch adsorption experiments were performed using CaO2 nanoparticles to remove α-toluic acid from the aqueous solution. Further, an experimental based central composite design (CCD) was developed to study the interactive effect of CaO2 adsorbent dosage, initial concentration of α-toluic acid, and contact time on α-toluic acid removal efficiency (response) and optimization of the process. Analysis of variance (ANOVA) was performed to determine the significance of the individual and the interactive effects of variables on the response. The model predicted response showed a good agreement with the experimental response, and the coefficient of determination, (R2) was 0.92. Among the variables, the interactive effect of adsorbent dosage and the initial α-toluic acid concentration was found to have more influence on the response than the contact time. Numerical optimization of process by RSM showed the optimal adsorbent dosage, initial concentration of α-toluic acid, and contact time as 0.03 g, 7.06 g/L, and 34 min respectively. The predicted removal efficiency was 99.50%. The experiments performed under these conditions showed α-toluic acid removal efficiency up to 98.05%, which confirmed the adequacy of the model prediction

Clinical and genetic characteristics of late-onset Huntington's disease

Background: The frequency of late-onset Huntington's disease (&gt;59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. Methods: Participants with late- and common-onset (30–50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded. Results: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P &lt;.001). Overall motor and cognitive performance (P &lt;.001) were worse, however only disease motor progression was slower (coefficient, −0.58; SE 0.16; P &lt;.001) compared to the common-onset group. Repeat size was significantly lower in the late-onset (n = 40.8; SD 1.6) compared to common-onset (n = 44.4; SD 2.8) (P &lt;.001). Fewer late-onset patients (n = 451) had a positive family history compared to common-onset (n = 2940) (P &lt;.001). Conclusions: Late-onset patients present more frequently with gait and balance problems as first symptom, and disease progression is not milder compared to common-onset HD patients apart from motor progression. The family history is likely to be negative, which might make diagnosing HD more difficult in this population. However, the balance and gait problems might be helpful in diagnosing HD in elderly patients

Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

Background: People with Huntington's disease (HD) have been observed to have lower rates of cancers. Objective: To investigate the relationship between age of onset of HD, CAG repeat length, and cancer diagnosis. Methods: Data were obtained from the European Huntington's disease network REGISTRY study for 6540 subjects. Population cancer incidence was ascertained from the GLOBOCAN database to obtain standardised incidence ratios of cancers in the REGISTRY subjects. Results: 173/6528 HD REGISTRY subjects had had a cancer diagnosis. The age-standardised incidence rate of all cancers in the REGISTRY HD population was 0.26 (CI 0.22-0.30). Individual cancers showed a lower age-standardised incidence rate compared with the control population with prostate and colorectal cancers showing the lowest rates. There was no effect of CAG length on the likelihood of cancer, but a cancer diagnosis within the last year was associated with a greatly increased rate of HD onset (Hazard Ratio 18.94, p < 0.001). Conclusions: Cancer is less common than expected in the HD population, confirming previous reports. However, this does not appear to be related to CAG length in HTT. A recent diagnosis of cancer increases the risk of HD onset at any age, likely due to increased investigation following a cancer diagnosis