Examining physical activity and quality of life in adults with autism spectrum disorder and intellectual disability.

Adults with autism and co-occurring intellectual disability engage in low levels of physical activity and are at increased risk of developing secondary health conditions attributed to physical inactivity compared to adults in the general population. Few studies have examined the use of objective measures to characterize physical activity levels for adults with autism and intellectual disability. The current study aimed to examine the relationship between physical activity, using an activity tracker, and quality of life in adults with autism and intellectual disability. In the current study, 38 adults with autism and intellectual disability, ages 18-55, wore a Fitbit Flex 2® activity tracker for 1 week, and completed the Quality of Life Questionnaire. The relationship between average daily step count quality of life was examined. Most adults in the sample were overweight and taking fewer daily steps than recommended guidelines. Increased average daily step count was significantly associated with quality of life.

Chromosomal microarray versus karyotyping for prenatal diagnosis.

BACKGROUND: Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. METHODS: Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray. RESULTS: We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down's syndrome screening (18.8%), structural anomalies on ultrasonography (25.2%), and other indications (9.4%). In 4340 (98.8%) of the fetal samples, microarray analysis was successful; 87.9% of samples could be used without tissue culture. Microarray analysis of the 4282 nonmosaic samples identified all the aneuploidies and unbalanced rearrangements identified on karyotyping but did not identify balanced translocations and fetal triploidy. In samples with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 6.0% with a structural anomaly and in 1.7% of those whose indications were advanced maternal age or positive screening results. CONCLUSIONS: In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidies. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT01279733.).

Healthy Nutrition for Adults With Intellectual Disability: Piloting a Mobile Health Application and Self-Management Intervention.

While there are many benefits to healthy nutrition, adults with intellectual disability often have poor nutrition habits. The purpose of this pilot study was to examine the use of a nutrition app and self-management intervention to increase awareness of healthy nutrition choices for adults with intellectual disability. Data was gathered on the effectiveness of the intervention and social validity of intervention components. Through a single-case multiple-baseline across participants design, the mobile nutrition app with self-management intervention was effective in increasing awareness of healthier nutrition items for three adults with an intellectual disability. Future research is needed to replicate and generalize findings, as well as explore additional supports that may be needed for individuals who have more extensive support needs.

Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting.

The 2012 International Standards for Cytogenomic Arrays (ISCA) Consortium Meeting, "Towards a Universal Clinical Genomic Database," was held in Bethesda, Maryland, May 21-22, 2012, and was attended by over 200 individuals from around the world representing clinical genetic testing laboratories, clinicians, academia, industry, research, and regulatory agencies. The scientific program centered on expanding the current focus of the ISCA Consortium to include the collection and curation of both structural and sequence-level variation into a unified clinical genomics database, available to the public through resources such as the National Center for Biotechnology Information's ClinVar database. Here, we provide an overview of the conference, with summaries of the topics presented for discussion by over 25 different speakers. Presentations are available online at www.iscaconsortium.org.

Women's experiences receiving abnormal prenatal chromosomal microarray testing results.

PURPOSE: Genomic microarrays can detect copy-number variants not detectable by conventional cytogenetics. This technology is diffusing rapidly into prenatal settings even though the clinical implications of many copy-number variants are currently unknown. We conducted a qualitative pilot study to explore the experiences of women receiving abnormal results from prenatal microarray testing performed in a research setting. METHODS: Participants were a subset of women participating in a multicenter prospective study "Prenatal Cytogenetic Diagnosis by Array-based Copy Number Analysis." Telephone interviews were conducted with 23 women receiving abnormal prenatal microarray results. RESULTS: We found that five key elements dominated the experiences of women who had received abnormal prenatal microarray results: an offer too good to pass up, blindsided by the results, uncertainty and unquantifiable risks, need for support, and toxic knowledge. CONCLUSION: As prenatal microarray testing is increasingly used, uncertain findings will be common, resulting in greater need for careful pre- and posttest counseling, and more education of and resources for providers so they can adequately support the women who are undergoing testing.

Capabilities, Opportunities, and Motivation: Exploring Fitness Program Experiences of Adults with Intellectual and Developmental Disabilities.

Although there are many benefits to regular engagement in physical activity, adults with intellectual and developmental disabilities often do not engage in or near the recommended amount of physical activity. Barriers, such as lack of perceived capability, accessible environments, transportation, social support, and or knowledgeable support staff, may limit participation in physical activity. The present study used qualitative methods to explore the experiences of adults with intellectual and developmental disabilities enrolled in a fitness program. We used field observations and photo-elicited semi-structured interviews to explore what capabilities, opportunities, and motivations facilitate or hinder engagement in fitness classes and their experiences in the program. We used the COM-B model to deductively interpret and analyze the data through thematic analysis. Major themes were identified around types of support and preferences for physical over sedentary activities. Instructor, client, and family support were identified as important in facilitating interest, engagement, and skill. Dependency on others for financial and transportation support was also reported as important for participants to access the fitness program. This study provides valuable insight into the interactions and experiences of adults with intellectual and developmental disabilities, including what keeps them engaged in a fitness program as it relates to capabilities, opportunities, and motivation.

The effect of connexin43 on the level of vascular endothelial growth factor in human retinal pigment epithelial cells.

BACKGROUND: Connexins (Cx) are the basic units of gap junctions and contribute to cellular integrity by promoting intercellular communication. Disruption of the retinal pigment epithelial monolayer may be an early event in the pathogenesis of age-related macular degeneration, a condition in which vascular endothelial growth factor (VEGF) is known to be of importance. This study was designed to assess the effect of connexin43 (Cx43) expression and gap junctional intercellular communication (GJIC) on the expression and secretion of VEGF from the retinal pigment epithelium under normal cell culture and oxidative stress conditions. METHODS: Stable cell lines of ARPE-19 were produced in which wild-type Cx43 was either over-expressed, down-regulated by targeted shRNA, or functionally inhibited by co-expression of a disease-linked dominant-negative mutant (G21R). Pharmacologic blockade of GJIC was accomplished with flufenamic acid. Oxidant challenge was performed with tert-butyl hydroperoxide (tBH). VEGF gene expression and secretion were assessed by real-time PCR and ELISA respectively. RESULTS: Over-expression of Cx43 in ARPE-19 cells reduced both gene expression and secretion of VEGF. Down-regulation of Cx43 increased gene expression and secretion of VEGF. Increased secretion of VEGF was also observed in ARPE-19 cells expressing a dominant-negative mutant of Cx43, and when GJIC was blocked. Over-expression of Cx43 reduced tBH-induced secretion of VEGF from ARPE-19 cells. CONCLUSIONS: These studies show that Cx43 protects against oxidative stress-induced VEGF secretion in ARPE-19 cells, and thus has important implications in understanding the pathogenesis of age-related macular degeneration.

The laboratory-clinician team: a professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testing.

The International Standards for Cytogenomic Arrays (ISCA) Consortium is a worldwide collaborative effort dedicated to optimizing patient care by improving the quality of chromosomal microarray testing. The primary effort of the ISCA Consortium has been the development of a database of copy number variants (CNVs) identified during the course of clinical microarray testing. This database is a powerful resource for clinicians, laboratories, and researchers, and can be utilized for a variety of applications, such as facilitating standardized interpretations of certain CNVs across laboratories or providing phenotypic information for counseling purposes when published data is sparse. A recognized limitation to the clinical utility of this database, however, is the quality of clinical information available for each patient. Clinical genetic counselors are uniquely suited to facilitate the communication of this information to the laboratory by virtue of their existing clinical responsibilities, case management skills, and appreciation of the evolving nature of scientific knowledge. We intend to highlight the critical role that genetic counselors play in ensuring optimal patient care through contributing to the clinical utility of the ISCA Consortium's database, as well as the quality of individual patient microarray reports provided by contributing laboratories. Current tools, paper and electronic forms, created to maximize this collaboration are shared. In addition to making a professional commitment to providing complete clinical information, genetic counselors are invited to become ISCA members and to become involved in the discussions and initiatives within the Consortium.

Evolving applications of microarray analysis in prenatal diagnosis.

PURPOSE OF REVIEW: Evaluation of copy number variation by microarray analysis has significant advantages over standard metaphase karyotyping and is quickly becoming the primary means of postnatal genetic evaluation for neonates and infants with dysmorphic features or cognitive difficulties. Before this technology is routinely used for prenatal diagnosis, further evaluation of its value and the clinical dilemmas it may introduce requires further study. This article reviews the recent literature on array technology use in prenatal diagnosis. RECENT FINDINGS: The use of microarray analysis for routine prenatal diagnosis is still being investigated. Use in certain prenatal situations such as the fetus with structural anomalies or those who are stillborn appears to add important, clinically relevant information. There are a broad range of array designs available and recent research has focused on the appropriate design for prenatal testing. Patient counseling may occasionally be difficult because of the uncertain phenotype associated with some array findings. SUMMARY: We present a brief overview of microarray technology including benefits and limitations. Previous research regarding use of microarray in prenatal diagnosis including specific scenarios of anomalous fetuses and abnormal karyotype is reviewed. Current guidelines and the authors' recommendations are presented.

Evidence-Based Practices for Children, Youth, and Young Adults with Autism: Third Generation Review.

This systematic review describes a set of practices that have evidence of positive effects with autistic children and youth. This is the third iteration of a review of the intervention literature (Odom et al. in J Autism Dev Disorders 40(4):425-436, 2010a; Prevent School Fail 54(4):275-282, 2010b; Wong et al. in https://autismpdc.fpg.unc.edu/sites/autismpdc.fpg.unc.edu/files/imce/documents/2014-EBP-Report.pdf ; J Autism Dev Disorders 45(7):1951-1966, 2015), extending coverage to articles published between 1990 and 2017. A search initially yielded 31,779 articles, and the subsequent screening and evaluation process found 567 studies to include. Combined with the previous review, 972 articles were synthesized, from which the authors found 28 focused intervention practices that met the criteria for evidence-based practice (EBP). Former EBPs were recategorized and some manualized interventions were distinguished as meeting EBP criteria. The authors discuss implications for current practices and future research.

Disseminating Information on Evidence-Based Practices for Children and Youth with Autism Spectrum Disorder: AFIRM.

Comprehensive reviews of the research literature have identified that focused intervention practices for children and youth with autism spectrum disorder have evidence of producing positive developmental and learning outcomes. The Autism Focused Intervention Resources and Modules (AFIRM) project has translated evidence-based practices identified by Wong et al. (Journal of Autism and Developmental Disorders 45(7):1951-1966, 2015) into online learning modules. The purpose of this paper is to describe (1) the process for translating the research literature into practical information that practitioners can use, (2) its dissemination through a freely accessible website, (3) the use of the modules by over 64,500 users located in the United States and abroad, (4) knowledge gained as a result of completing the modules, and (5) consumers' evaluations of modules usefulness and relevance.

Increasing physical activity for adults with autism spectrum disorder: Comparing in-person and technology delivered praise.

BACKGROUND/AIMS/METHODS: While there are many benefits to regular engagement in physical activity, individuals with autism spectrum disorder often do not engage in healthy levels of physical activity. The purpose of this study was to compare praise delivered through multiple means on increasing engagement in physical activity for individuals with autism spectrum disorder. A single-case alternating treatment design was used to compare two conditions for delivering praise statements, in-person and through technology, for three young adults with autism spectrum disorder and accompanying intellectual disability. PROCEDURES/OUTCOMES: The study consisted of training; baseline, comparison, best-treatment, thinning, and generalization phases; and social validity interviews. For each session, data were collected on the number of laps completed, duration, and resting/ending heart rates. RESULTS/CONCLUSIONS: The number of laps completed increased for all participants during intervention, however, results were mixed regarding the more effective and preferred condition. Participants who excelled in the technology condition also maintained performance levels when praise statements were thinned and generalized performance to a new setting. IMPLICATIONS: Praise statements can be used to increase levels of physical activity in young adults with autism spectrum disorder and intellectual disability. Exposing individuals to multiple conditions can impact their preferred method for receiving support.

Predictors of Risky Behavior and Offending for Adolescents With Mild Intellectual Disability.

Adolescents with intellectual disability (ID) engage in risky behavior and offending. However, little is known on the impact school-related predictors have on engagement in risky behaviors for adolescents with ID. This study analyzed secondary data from the National Longitudinal Transition Study-2 (NLTS2) to determine levels of engagement in risky behaviors and offending for adolescents with mild and moderate/severe ID. School-related predictors of engagement for adolescents with mild ID were also explored. Results indicated adolescents with mild ID engage in risky behaviors and offending at significantly higher rates as compared to adolescents with moderate/severe ID. Participation in a social skills or life skills class was a significant predictor of less engagement in risky behaviors for individuals with mild ID.

Self-Injury in Autism Spectrum Disorder and Intellectual Disability: Exploring the Role of Reactivity to Pain and Sensory Input.

This paper provides information about the prevalence and topography of self-injurious behavior in children and adults with autism spectrum disorder and intellectual disability. Dominant models regarding the etiology of self-injury in this population are reviewed, with a focus on the role of reactivity to pain and sensory input. Neuroimaging studies are presented and suggestions are offered for future research.