Parent-reported genetic counselor adherence to the NSGC practice resource for communicating a potential prenatal diagnosis: Impact on the Down syndrome diagnosis experience.

In 2011, the National Society of Genetic Counselors (NSGC) published practice resources about communicating a prenatal or postnatal diagnosis of Down syndrome (DS). However, the impact of GC adherence to those recommendations on patient experiences has been unknown. The objective of this analysis was to investigate perceived GC adherence to professional recommendations for delivering a DS diagnosis and the impact on parental diagnosis experiences and the information and support offered. Parents of children with DS born between 2016 and 2021 completed a survey distributed by 12 local DS organizations and the national DS Diagnosis Network to assess prenatal diagnosis experiences and the provision of support and information by health professionals. Participants were queried about whether their GC followed specific recommendations from the NSGC practice resource. Respondents were also invited to describe their diagnosis experience. An overall perceived adherence score was calculated (percentage of elements GC demonstrated/total number of elements). Open-ended responses were inductively coded by a GC and GC student to identify categories and to perform a sentiment analysis where 1 was completely negative, 2 was mixed/more negative, 3 was neutral, 4 was mixed/more positive, and 5 was completely positive. The GCs were blinded to participants' perceived adherence scores while performing the sentiment analysis. Of the 242 parents who completed the survey, 161 respondents answered questions about GC's perceived practice resource adherence. The median perceived adherence score was 42.9% (IQR 21.4-71.4)%. A total of 61 people provided an open-ended response about their prenatal diagnosis experience with a GC and were assigned a sentiment score. The median sentiment score was 3 (IQR 1-5). Kendall's Tau analysis showed that higher perceived practice resource adherence was associated with more positive sentiment scores. These results suggest that NSGC practice resource adherence may improve the prenatal diagnosis experiences of parents of children with DS and have the potential to improve counseling outcomes.

The impact of implicit and explicit bias about disabilities on parent experiences and information provided during prenatal screening and testing.

BACKGROUND: Prenatal screening technology has consistently raised concerns regarding the conversations and information provided about disabilities, particularly given that research shows trauma related to negative prenatal screening and diagnosis experiences among parents of children with Down syndrome.1 OBJECTIVE: To determine what information obstetric medical providers (OB/MFMs) are most and least likely to provide when delivering prenatal screening/testing results about Down syndrome (DS), the subsequent impact of bias on prenatal screening experiences, and how these issues can be addressed through training, resources, and professional guidelines. METHODS: Online surveys were distributed to parents of children with DS born between 2016 and 2021 via local DS organizations and the national DS Diagnosis Network (April 2020-December 2021). RESULTS: Of the 242 parents who completed the survey, a majority indicated that OB/MFMs were most likely to discuss medical issues and reproductive options while less than 40% reported that OB/MFMs discussed psychosocial outcomes, supports, and services. Respondents reported that the 61.3% of OB/MFMs who delivered the diagnosis as bad news or said "I'm sorry" were significantly less likely than their counterparts to provide information about life outcomes, supports and services, condition-specific resources, or more comprehensive prenatal care. Qualitative responses about screening/diagnosis experiences provided further context about the impact of implicit and explicit bias on the provision of accurate, up-to-date information. CONCLUSION: To meet information needs during prenatal screening, OB/MFMs need access to accurate, balanced, and up-to-date information about disabilities and more training on disability cultural competency and how to deliver prenatal screening/testing results without implicit or explicit bias.

Promising Strategies for Teaching Augmentative and Alternative Communication in Inclusive Educational Settings: A Systematic Review.

PURPOSE: The purpose of this article was to conduct a systematic review of the literature on teaching or increasing the use of augmentative and alternative communication (AAC) by students with significant intellectual disabilities and complex communication needs (CCNs) within inclusive school settings. METHOD: A systematic review of research literature from 1998 to 2022 was completed using multiple electronic databases, as well as citation chaining and cited author reference searches. Three hundred two articles were located with 17 meeting criteria for inclusion in this systematic review. Articles were initially screened by one author for potential inclusion; the remaining 83 were coded by one author and reviewed for consensus by three authors for inclusion in this review. Articles were analyzed and rated regarding both level of research design and quality of methodology. RESULTS: All studies reported positive outcomes, with students with significant intellectual disabilities and CCN, of AAC intervention implemented in an inclusive setting. Fourteen over 17 studies were single-case designs with an average rating of 76% on the Single-Case Experimental Design measure of methodological quality. Less than half of the studies assessed generalization of subject learning. Review of interventions used in the studies, however, revealed the majority of studies utilized packages of interventions, making it difficult to determine the effectiveness of individual approaches. CONCLUSIONS: This systematic review indicates there are promising interventions within inclusive settings for improved use of AAC by students with significant intellectual disabilities and CCN. Further research is needed, however, to obtain more data on generalization of student gains as well as to determine which specific interventions might be the most successful for this population of students in inclusive settings.

Perceived stress of individuals with disabilities in the United States during COVID-19.

PURPOSE/OBJECTIVE: This study was conducted to better understand how COVID-19 has impacted the stress, resiliency, and quality of life of people with disabilities near the height of the first surge of the COVID-19 pandemic in the summer of 2020. RESEARCH METHOD/DESIGN: An online survey of 990 individuals who self-identified as having at least one disability in the United States was conducted. RESULTS: Quality of life, coping/resilience skills, number of identified disabilities, and age were all significantly related to perceived stress. While access to technology was not significantly related to perceived stress, increased use of technology since the pandemic was associated with increased reported stress, though the practical significance was small. CONCLUSIONS/IMPLICATIONS: There is a need for increased attention to dissemination of information to people with disabilities. Knowledge of medical rights was significantly associated with following social distancing practices and suggests that health knowledge does change behavior. Ensuring that people with disabilities are aware of coping skills and how to promote resilience is a needed area of focus for the field. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

Direct Support Professionals: Stress and Resiliency Amidst the COVID-19 Pandemic.

This study reports on the results of an online survey of direct support professionals (DSPs) during the COVID-19 pandemic in June 2020 to measure their perceived quality of life, stressors, coping/resilience skills, and knowledge of health care rights directly related to the pandemic for the persons that they support. Specifically, we examined direct support workers' perceptions of their quality of life, levels of stress, and their self-reported resilience skills. We found that perceived stress was strongly correlated with both self-reported quality of life and resilience, but not with years of DSP experience. Moreover, while DSPs overwhelmingly knew and affirmed health care rights for people with disabilities, they were less knowledgeable about their legal rights during hospital stays.

Stakeholder perspectives on transition planning, implementation, and outcomes for students with autism spectrum disorder.

LAY ABSTRACT: Little is known about factors impacting poor post-school outcomes for transition-age students with autism spectrum disorder. Guided by an implementation science framework that takes into account the multiple factors that influence transition outcomes, we sought to better understand the interdependent impacts of policy, organizational, provider, and individual factors that shape the transition planning process in schools, and the subsequent process through which transition plans are implemented as youth with autism spectrum disorder access services and gain employment after school. We conducted focus groups with individuals with autism spectrum disorder, parents, classroom teachers, school administrators, adult service providers, and state policymakers (10 groups, N = 40). Participants described how core tenets of the individualized education planning process were not reliably implemented: planning was described by inappropriate goal-setting, ineffective communication, and inadequate involvement of all decision-makers needed to inform planning. After school, youth struggled to access the services specified in their transition plans due to inadequate planning, overburdened services, and insufficient accountability for adult service providers. Finally, a failure to include appropriate skill-building and insufficient interagency and community relationships limited efforts to gain and maintain employment. Diverse stakeholder perspectives illuminate the need for implementation efforts to target the provider, organizational, and policy levels to improve transition outcomes for individuals with autism spectrum disorder.

Teaching medical students how to deliver diagnoses of Down syndrome: Utility of an educational tool.

OBJECTIVE: This study assessed whether using an educational tool increased the knowledge and perceived comfort level of first-year medical students in giving a diagnosis of Down syndrome. METHOD: A total of 295 students taking a genetics course completed a knowledge questionnaire and Situations Inventory (aimed at assessing comfort with sharing certain information), prior to and following use of Brighter Tomorrows, a web-based educational module on giving parents a diagnosis of Down syndrome. RESULTS: The pre-intervention mean on the knowledge survey was 3.67, which significantly increased to 5.47 following the intervention. Mean Situational Inventory scores were significantly higher pre-intervention (M = 45.5), which indicates greater discomfort, compared to post-intervention (M = 36.7). Qualitative analysis of responses regarding lessons learned fell into 5 major themes. The most common theme (48% of responses) was related to communication skills. The most frequently cited lesson learned was the importance of demonstrating empathy. CONCLUSIONS: This study found that knowledge and perceived comfort levels of first-year medical students in giving a postnatal diagnosis of Down syndrome were significantly increased following use of an educational tool. PRACTICE IMPLICATIONS: Educational modules can provide medical students with foundational knowledge on providing distressing information to help prepare for future clinical encounters.

Adapting COMPASS for youth with ASD to improve transition outcomes using implementation science.

Implementation science provides guidance on adapting existing evidence based practices (EBPs) by incorporating implementation concerns from the start. Focus-group methodology was used to understand barriers and facilitators of transition planning and implementation for students with autism spectrum disorder (ASD) who often experience disparate postsecondary outcomes compared to peers. Results were used to modify an evidence-based consultation intervention originally applied to young students with ASD, called the Collaborative Model for Promoting Competence and Success (COMPASS; Ruble, Dalrymple, & McGrew, 2012). Because consultation is a multilevel EBP, two existing implementation science frameworks were used to guide adaptation: the Framework for Evidence Based Implementation and Intervention Practices (Dunst & Trivette, 2012) and the Consolidated Framework for Implementation Research (Damschroder et al., 2009). The purpose of this article is to describe a process of adaptation of COMPASS that may be useful for other implementation science studies of consultation interventions, teacher acceptability, feasibility, and burden, and parent/student satisfaction with the adapted intervention. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

Life Outcomes and Higher Education: The Need for Longitudinal Research Using a Broad Range of Quality of Life Indicators.

Higher education is increasingly becoming an option for young adults with intellectual disability (ID). Although initial evaluations of postsecondary education for this population have been promising, a broader "quality of life" framework needs to be adopted in order to truly understand the impact of these programs. Moreover, researchers and program evaluators must collect longitudinal data that follows former students for multiple years and uses multiple measures. We conducted a pilot evaluation of the life outcomes of students who had attended at least two semesters in Kentucky's supported higher education program for students with ID, collecting data on life status and experiences using measures from the National Core Indicators-Adult Consumer Survey. The findings from this pilot study show better outcomes for young adults who participated in a postsecondary education program compared to young adults who did not, but these findings need to be considered in light of several limitations. In many respects, our data provided more new questions than answers. Recommendations for collecting and evaluating broad-based, longitudinal data to gain insight into the potential benefits of postsecondary education for people with intellectual disability are discussed.

Congregational Participation of a National Sample of Adults With Intellectual and Developmental Disabilities.

Supporting people with intellectual and developmental disabilities (IDD) to thrive requires careful consideration of multiple avenues of community involvement. Yet little attention has focused on the place of faith community participation in the lives of adults with IDD. We examined attendance at religious services using National Core Indicator data for a sample of 12,706 adults with IDD residing in 24 states. Almost half of adults (48.3%) reported attending a religious service in the past month, and more than one third (34.6%) attended 3 or more times. Religious involvement varied considerably based on a variety of individual (e.g., race, disability type, behavioral support needs, communication mode) and contextual factors (e.g., geographic locale, residential type). Moreover, monthly involvement in religious activities was much less common than participation in other community activities (i.e., exercise, entertainment, eating out, shopping). We offer recommendations for supporting the spiritual lives of adults with IDD, as well as highlight areas for future research and practice.

Students with intellectual disability in higher education: adult service provider perspectives.

Postsecondary education (PSE) is increasingly becoming an option for students with intellectual disability (ID; Grigal & Hart, 2012 ). Postsecondary education offers the promise of pursuing a valued social role (that of college student), enhanced social networks, and, most significantly, increased employment options. To date, research and practice in the area of transition to PSE for students with ID has focused primarily upon the sending (public school systems) and receiving (colleges or universities) agencies ( Oertle & Bragg, 2014 ; Thoma et al., 2011 ). Yet adults with ID often require ongoing supports through state and federally funded developmental disability waivers, and agency providers of waiver services have, for the most part, not been part of this vital conversation. This study represents an exploratory study of directors of developmental disability provider agencies in one midwestern state to assess their knowledge of PSE for individuals with ID. A total of 87 directors responded; quantitative results are presented and, based on these findings, we provide implications for the future.

Using research evidence to inform public policy decisions.

The application of scientific data in the development and implementation of sound public policy is a well-established practice, but there appears to be less consensus on the nature of the strategies that can and should be used to incorporate research data into policy decisions. This paper describes the promise and the challenges of using research evidence to inform public policy. Most specifically, we demonstrate how the application of a large-scale data set, the National Core Indicators (NCI), can be systematically used to drive state-level policy decisions, and we describe a case example of one state's application of NCI data to make significant changes to its Intellectual and Developmental Disabilities waiver. The need for continued research in this area is highlighted.

Parent and physician perceptions of medical home care for children with autism spectrum disorders in the state of Kentucky.

The medical home model of care is widely accepted as the ideal for children with autism spectrum disorders (ASDs) but may be very difficult to implement. In this study, parents of children with autism and pediatricians caring for children with autism in Kentucky were surveyed to determine the current status of primary care services for children with ASDs. Results indicated that the majority of families and physicians were comfortable with the routine health care provided to children with ASDs, but had concerns about physician ability to provide information regarding community resources, address comorbid conditions associated with autism, and discuss treatment options. The need for physician education regarding available national and regional autism resources is clear. Creative strategies involving collaboration across medical, educational, and community systems appear to be essential for establishing effective medical homes for children with ASDs.

Effectively training pediatric residents to deliver diagnoses of Down syndrome.

Physicians and parents report a need for pediatricians to have additional training in delivering a diagnosis of Down syndrome (DS). This study tested a web-based tutorial to assess its effectiveness in improving physicians' perceived comfort with both ambiguous and more medically factual situations as they deliver diagnoses of DS. Based on this web tutorial that integrated prenatal and postnatal information into virtual patient scenarios, the study assessed pediatrics residents' knowledge and comfort in delivering a diagnosis of DS pre and postnatally. A separate survey, given at the same time, asked for residents' perception of their need for this training. Ninety-one volunteer residents from 10 pediatric training programs across the country participated. The tutorial yielded significant improvement in knowledge and a significant decrease in perceived level of discomfort in both ambiguous situations and more medically certain contexts related to a DS diagnosis. In addition, across all pediatric resident groups (by year, gender, and performance on the knowledge test and the comfort scale), residents strongly agreed that this type of training was beneficial for themselves, other residents, practicing physicians, and other medical professionals. This study suggests that web-based, interactive, multi-media training may be an effective tool for improving resident physician comfort with both ambiguous and more medically certain situations in delivering a diagnosis of DS to families.

Improving residents' understanding of issues, comfort levels, and patient needs regarding screening for and diagnosing Down syndrome.

OBJECTIVE: This study assessed obstetrics and gynecology and pediatrics residents' knowledge about Down syndrome (DS) and their comfort in delivering a prenatal or postnatal diagnosis of DS before and after interaction with a web-based tutorial. STUDY DESIGN: A team of physicians, parents, and educational specialists developed an interactive tutorial that asked resident physicians to provide their own responses to "virtual patient" cases related to DS diagnoses in utero and at birth. We tested resident knowledge and comfort-level changes and their satisfaction with the web-based tool. RESULTS: The study yielded significant improvement in knowledge and level of comfort changes with both obstetrics and gynecology and pediatric resident physicians at 16 programs nationally. There were no significant differences between the 2 specialties. CONCLUSION: This interactive tutorial is effective in improving physicians' knowledge of and comfort level with imparting accurate, balanced information about DS pre- and postnatally.

Compression of the ulnar nerve and spasm of the ulnar artery in Guyon's canal caused by a hypermobile pisiform bone.

We describe compression of the ulnar nerve at Guyon's canal caused by a hypermobile pisiform bone and associated with spasm of the ulnar artery. Treatment included excision of the pisiform bone, and repair of the flexor carpi ulnaris, hypothenar musculature, and periosteum. Postoperatively, the patient reported complete relief of symptoms, which had still been maintained at final follow-up one year later.

Virtual patient instruction for dental students: can it improve dental care access for persons with special needs?

An interactive, virtual-patient module was produced on compact disc (CD-ROM) in response to the critical need to increase dental students' clinical exposure to patients with developmental disabilities. A content development team consisting of dental faculty members, parents of children with developmental disabilities, an individual with a developmental disability, and educational specialists developed the interactive, virtual-patient module. The module focused on a young man with congenital deafblindness presenting as a new patient with a painful molar. Students were required to make decisions regarding clinical interactions throughout the module. Differences in both comfort and knowledge level were measured pre- and post-module completion, as well as the dental students' overall satisfaction with the learning experience. Significant results were obtained in students' perceived comfort and knowledge base. Participants reported overall satisfaction using the modules. This study demonstrated that an interactive, multi-media (CD-ROM), virtual patient learning module for dental students could be an effective tool in providing students needed clinical exposure to patients with developmental disabilities.

Virtual patient training to improve reproductive health care for women with intellectual disabilities.

A multimedia virtual patient module, involving the case of a young woman with mild intellectual disabilities with a complaint of diffuse abdominal pain, was developed as a clinical training tool for students in health care professions. Primary objectives following use of the module included improved knowledge and reduced perception of difficulty in treating women's health patients with intellectual disabilities. The module was developed using an iterative, collaborative process of a core development team that included medical professionals, multimedia specialists, the parent of a child with intellectual disability, and a disability advocate. Over the course of the module, students were required to identify appropriate and effective clinician-patient interactions in addition to relevant medical and developmental concerns for this patient population. Pilot data from a sample of nursing, physician assistant, and medical students suggest that the module is an effective tool for both improving students' knowledge and reducing their perception of difficulty in providing care to women's health patients with intellectual disabilities.

Developmental disabilities: improving competence in care using virtual patients.

Nurse practitioners (NPs) have an increasingly important role in health care provision in the United States. However, most nurses report that they receive little or no clinical training in the area of developmental disabilities. A core development team consisting of NP faculty members from three universities, one physician assistant faculty member, the parents of children with developmental disabilities, and educational specialists developed two multimedia interactive pediatric instructional modules in CD-ROM format: one involving a child with Down syndrome and the other, an infant born at 26 weeks gestation. Participants were required to make decisions about proper clinical interaction throughout the cases. The modules on CD were piloted with NP students at three universities. Effectiveness study results demonstrated significant gains in both knowledge and comfort level regarding the care of patients with developmental disabilities.

Videophone-delivered voice therapy: a comparative analysis of outcomes to traditional delivery for adults with Parkinson's disease.

Individuals with idiopathic Parkinson's disease (IPD) usually develop a speech disorder characterized by reduced loudness, hoarse and breathy voice, monotony of pitch, short rushes of speech, and imprecise consonants. The inability to effectively communicate impairs their ability to function in society and quality of life. A successful program developed to improve speech in these individuals is the Lee Silverman Voice Treatment (LSVT). A critical component of this treatment is intense daily therapy for 4 weeks, a regimen that is difficult for many elderly patients to complete. Treatment delivered through videophones placed in the homes of individuals with IPD offers an alternative and could improve accessibility of treatment if the results were the same. This study compared the outcomes of LSVT delivered via videophones to the outcomes of traditional treatment delivered face-to-face.