1. Bailey DB, Jr., Lewis MA, Harris SL, Grant T, Bann C, Bishop E, Roche M, Guarda S, Barnum L, Powell C, Therrell BL, Jr. {{Design and Evaluation of a Decision Aid for Inviting Parents to Participate in a Fragile X Newborn Screening Pilot Study}}. {J Genet Couns}. 2012.
The major objectives of this project were to develop and evaluate a brochure to help parents make an informed decision about participation in a fragile X newborn screening study. We used an iterative development process that drew on principles of Informed Decision Making (IDM), stakeholder input, design expertise, and expert evaluation. A simulation study with 118 women examined response to the brochure. An independent review rated the brochure high on informational content, guidance, and values. Mothers took an average of 6.5 min to read it and scored an average of 91.1 % correct on a knowledge test. Most women rated the brochure as high quality and trustworthy. When asked to make a hypothetical decision about study participation, 61.9 % would agree to screening. Structural equation modeling showed that agreement to screening and decisional confidence were associated with perceived quality and trust in the brochure. Minority and white mothers did not differ in perceptions of quality or trust. We demonstrate the application of IDM in developing a study brochure. The brochure was highly rated by experts and consumers, met high standards for IDM, and achieved stated goals in a simulation study. The IDM provides a model for consent in research disclosing complicated genetic information of uncertain value.
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2. Barbaro J, Dissanayake C. {{Early markers of autism spectrum disorders in infants and toddlers prospectively identified in the Social Attention and Communication Study}}. {Autism}. 2012.
The Social Attention and Communication Study involved the successful implementation of developmental surveillance of the early markers of autism spectrum disorders in a community-based setting. The objective in the current study was to determine the most discriminating and predictive markers of autism spectrum disorders used in the Social Attention and Communication Study at 12, 18 and 24 months of age, so that these could be used to identify children with autism spectrum disorders with greater accuracy. The percentage of ‘yes/no’ responses for each behavioural marker was compared between children with autistic disorder (n = 39), autism spectrum disorder (n = 50) and developmental and/or language delay (n = 20) from 12 to 24 months, with a logistic regression also conducted at 24 months. Across all ages, the recurring key markers of both autistic disorder and autism spectrum disorder were deficits in eye contact and pointing, and from 18 months, deficits in showing became an important marker. In combination, these behaviours, along with pretend play, were found to be the best group of predictors for a best estimate diagnostic classification of autistic disorder/autism spectrum disorder at 24 months. It is argued that the identified markers should be monitored repeatedly during the second year of life by community health-care professionals.
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3. Fourie CL, Theron LC. {{Resilience in the Face of Fragile X Syndrome}}. {Qual Health Res}. 2012.
In this article, we communicate transformative findings from a case study on the resilience of a young woman with fragile X syndrome (FXS), a genetic condition involving mental impairment and physical, emotional, and behavioral challenges. We explored the resilience of « Lucy, » a spirited 16-year-old North American, using informal interviews with her, formal interviews with significant adults in her life, and observations (visual and anecdotal) over 20 months. In reporting the information-rich case of Lucy, well supported by her ecology to rise above full-mutation FXS, we encourage a positive perspective of living with FXS. Although we recognize the limitations of a single case study, our findings offer tentative, process-oriented insights into resilience in contexts of genetic disability, previously unreported in conjunction with FXS. We concluded that the processes informing Lucy’s resilience were partly her responsibility and partly her social ecology’s, and comprised intrapersonal agency, unconditional positive acceptance and belonging, and support toward mastery.
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4. Louis P. {{Does the Human Gut Microbiota Contribute to the Etiology of Autism Spectrum Disorders?}}. {Dig Dis Sci}. 2012.
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5. Wentz E, Nyden A, Krevers B. {{Development of an internet-based support and coaching model for adolescents and young adults with ADHD and autism spectrum disorders: a pilot study}}. {Eur Child Adolesc Psychiatry}. 2012.
The aims of this paper were to develop an internet-based support and coaching model for young people with autism spectrum disorder (ASD) and/or attention-deficit/hyperactivity disorder (ADHD), and to validate the model. A user-centred design was applied to develop a model for internet-based support and coaching, where individuals received 8-week support via internet (chat). The model was validated by 10 individuals, 15-26 years of age, with ASD and/or ADHD. Self-report questionnaires [Sense of Coherence (SOC), the Rosenberg Self Esteem Scale, the Manchester Short Assessment of Quality of Life, Montgomery Asberg Depression Rating Scale, and the Hospital Anxiety and Depression Scale] were distributed before and after intervention. A structured interview regarding the quality of the model, the Patient perspective of Care and Rehabilitation process (POCR), was used after the intervention. The validation showed significant improvement of SOC, self-esteem and subjective Quality of Life at follow-up and the majority perceived high fulfilment/importance on the POCR. In conclusion, The model can be an important complement to other interventions for young people with ASD and/or ADHD.
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6. White SW, Ollendick T, Albano AM, Oswald D, Johnson C, Southam-Gerow MA, Kim I, Scahill L. {{Randomized Controlled Trial: Multimodal Anxiety and Social Skill Intervention for Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2012.
Anxiety is common among adolescents with autism spectrum disorders (ASD) and may amplify the core social disability, thus necessitating combined treatment approaches. This pilot, randomized controlled trial evaluated the feasibility and preliminary outcomes of the Multimodal Anxiety and Social Skills Intervention (MASSI) program in a sample of 30 adolescents with ASD and anxiety symptoms of moderate or greater severity. The treatment was acceptable to families, subject adherence was high, and therapist fidelity was high. A 16 % improvement in ASD social impairment (within-group effect size = 1.18) was observed on a parent-reported scale. Although anxiety symptoms declined by 26 %, the change was not statistically significant. These findings suggest MASSI is a feasible treatment program and further evaluation is warranted.
