Research In Developmental Disabilities Research Articles

Measurement Invariance in Intellectual and Developmental Disability Research.

Measurement invariance (MI) is a psychometric property of an instrument indicating the degree to which scores from an instrument are comparable across groups. In recent years, there has been a marked uptick in publications using MI in intellectual and developmental disability (IDD) samples. Our goal here is to provide an overview of why MI is important to IDD researchers and to describe some challenges to evaluating it, with an eye towards nudging our subfield into a more thoughtful and measured interpretation of studies using MI.

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

BackgroundSuccinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston Children’s Hospital Intellectual and Developmental Disabilities Research Centers (IDDRC), including the NIH-sponsored natural history study of clinical, neurophysiological, neuroimaging, and molecular markers, patient-derived induced pluripotent stem cells (iPSC) characterization, and development of a murine model for tightly regulated, cell-specific gene therapy.MethodsSSADHD subjects underwent clinical evaluations, neuropsychological assessments, biochemical quantification of γ-aminobutyrate (GABA) and related metabolites, electroencephalography (standard and high density), magnetoencephalography, transcranial magnetic stimulation, magnetic resonance imaging and spectroscopy, and genetic tests. This was parallel to laboratory molecular investigations of in vitro GABAergic neurons derived from induced human pluripotent stem cells (hiPSCs) of SSADHD subjects and biochemical analyses performed on a versatile murine model that uses an inducible and reversible rescue strategy allowing on-demand and cell-specific gene therapy.ResultsThe 62 SSADHD subjects [53% females, median (IQR) age of 9.6 (5.4–14.5) years] included in the study had a reported symptom onset at ∼ 6 months and were diagnosed at a median age of 4 years. Language developmental delays were more prominent than motor. Autism, epilepsy, movement disorders, sleep disturbances, and various psychiatric behaviors constituted the core of the disorder’s clinical phenotype. Lower clinical severity scores, indicating worst severity, coincided with older age (R= -0.302, p = 0.03), as well as age-adjusted lower values of plasma γ-aminobutyrate (GABA) (R = 0.337, p = 0.02) and γ-hydroxybutyrate (GHB) (R = 0.360, p = 0.05). While epilepsy and psychiatric behaviors increase in severity with age, communication abilities and motor function tend to improve. iPSCs, which were differentiated into GABAergic neurons, represent the first in vitro neuronal model of SSADHD and express the neuronal marker microtubule-associated protein 2 (MAP2), as well as GABA. GABA-metabolism in induced GABAergic neurons could be reversed using CRISPR correction of the pathogenic variants or mRNA transfection and SSADHD iPSCs were associated with excessive glutamatergic activity and related synaptic excitation.ConclusionsFindings from the SSADHD Natural History Study converge with iPSC and animal model work focused on a common disorder within our IDDRC, deepening our knowledge of the pathophysiology and longitudinal clinical course of a complex neurodevelopmental disorder. This further enables the identification of biomarkers and changes throughout development that will be essential for upcoming targeted trials of enzyme replacement and gene therapy.

The Brain Gene Registry: a data snapshot

Monogenic disorders account for a large proportion of population-attributable risk for neurodevelopmental disabilities. However, the data necessary to infer a causal relationship between a given genetic variant and a particular neurodevelopmental disorder is often lacking. Recognizing this scientific roadblock, 13 Intellectual and Developmental Disabilities Research Centers (IDDRCs) formed a consortium to create the Brain Gene Registry (BGR), a repository pairing clinical genetic data with phenotypic data from participants with variants in putative brain genes. Phenotypic profiles are assembled from the electronic health record (EHR) and a battery of remotely administered standardized assessments collectively referred to as the Rapid Neurobehavioral Assessment Protocol (RNAP), which include cognitive, neurologic, and neuropsychiatric assessments, as well as assessments for attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Co-enrollment of BGR participants in the Clinical Genome Resource’s (ClinGen’s) GenomeConnect enables display of variant information in ClinVar. The BGR currently contains data on 479 participants who are 55% male, 6% Asian, 6% Black or African American, 76% white, and 12% Hispanic/Latine. Over 200 genes are represented in the BGR, with 12 or more participants harboring variants in each of these genes: CACNA1A, DNMT3A, SLC6A1, SETD5, and MYT1L. More than 30% of variants are de novo and 43% are classified as variants of uncertain significance (VUSs). Mean standard scores on cognitive or developmental screens are below average for the BGR cohort. EHR data reveal developmental delay as the earliest and most common diagnosis in this sample, followed by speech and language disorders, ASD, and ADHD. BGR data has already been used to accelerate gene-disease validity curation of 36 genes evaluated by ClinGen’s BGR Intellectual Disability (ID)-Autism (ASD) Gene Curation Expert Panel. In summary, the BGR is a resource for use by stakeholders interested in advancing translational research for brain genes and continues to recruit participants with clinically reported variants to establish a rich and well-characterized national resource to promote research on neurodevelopmental disorders.

관계틀 이론에 대한 체계적 분석

This study aims to systematically review the global trends in developmental disability research applying Relational Frame Theory (RFT). Initially, 1,405 research articles were searched, and following the PRISMA procedure, 58 studies focusing on developmental disabilities within the context of RFT were ultimately selected for analysis. This research meticulously examined the publication year, journal name, characteristics of participants, dependent variables, independent variables, research settings, and experimental designs of the selected studies. The analysis of the global trends in RFT-based developmental disability research revealed that studies span a variety of developmental disability types, with derived relational responding and verbal operants among the primary dependent variables, and RFT-based instructional strategies frequently serving as independent variables. The research settings were predominantly in schools and therapy rooms, with most participants being children and adolescents diagnosed with Autism Spectrum Disorder. Through this study, it was confirmed that RFT provides a significant theoretical and practical foundation for supporting language and cognitive development in the field of developmental disabilities. Based on the findings, the study suggests the need for expanding the scope and deepening the theoretical exploration of RFT-related research, discussing the limitations of the current study and directions for future research.

Inclusive Dissemination: Inclusive Research Dissemination With Individuals With Intellectual and Developmental Disabilities

Abstract Inclusive research emphasizes the importance of researchers with intellectual and developmental disabilities playing active roles in all phases of research, including research and information dissemination. This article explores how contemporary literature and practical application of inclusive practices in the academic setting of a University Center of Excellence in Developmental Disabilities sheds light on this important yet often overlooked facet of research. It argues that, by adopting a suite of new and more inclusive approaches to dissemination, intellectual and developmental disability research and analysis can reach far beyond the walls of the academy. Approaches to inclusive and strategic sharing of research and other information are presented that can enhance the application and influence of that research. Strategies for increasing inclusivity are also detailed, along with challenges and future considerations to help the field enshrine these strategies in common practice. Finally, barriers to inclusive dissemination are discussed, along with methods to overcome them. Although it is clear that more research and work need to be done on this subject, these strategies, approaches, and methods will help research teams become more inclusive, ensuring the research is meaningful and accessible to people whose lives are affected by it.

A Window into the Use of Post-diagnostic Services for Autism and Parents' Perspective on the Quality of Early Childhood Services Trajectory in a Canadian Province.

The pathway for post-diagnostic services for autism tends to be complex, heterogeneous, and fraught with delays. This situation has repercussions for families' experience with care systems, the quality of early interventions, and family adjustment. To date, studies of parents' point of view on autism services have predominantly focused on the diagnostic phase of the services trajectory. The goal of the present study was to investigate the perspective of parents on autism early childhood services within a public healthcare and social services system in a Canadian province (Québec). Participants were 91 parents who completed a structured framework for the evaluation of the quality of services trajectories, the Evaluation of the services Trajectory in Autism by Parents (ETAP; Mello et al., in Research in Developmental Disabilities 133, 2023). Approximately three-quarters of families received interim services (e.g., punctual speech therapy interventions) for which they had overall neutral-to-positive appraisals but viewed as having comparably low validity and continuity. Although all children diagnosed with autism are entitled to receive early behavioral intervention (EBI) dispensed by the public health and social services system, approximately a quarter of families did not receive this service. Families who received EBI evaluated this service positively on all ETAP dimensions. The empathy (i.e., parent-provider relationships) dimension was rated highest for both interim and EBI services. Some systemic, family, and child-related factors were associated with the perceived quality of services for both interim and early childhood services. Our results emphasize the need for services for children and families as soon as possible, both during assessment and after diagnosis.

Advancing Strength-Based Inclusive Mental Health Research in Intellectual and Developmental Disabilities

Advancing Strength-Based Inclusive Mental Health Research in Intellectual and Developmental Disabilities

The Equity Agenda in Intellectual and Developmental Disabilities Research.

This commentary on Kover and Abbeduto (2023) underscores the critical importance of naming and framing toward an equity agenda in intellectual and developmental disabilities research. More specifically, I briefly outline (1) why racialization is an important anchor in IDD discourse; (2) whiteness as a necessary point of discussion; and (3) the adoption of critical inquiry and critical praxis.

The Work Ahead for Intellectual and Developmental Disabilities Research.

In "Toward Equity in Research on Intellectual and Developmental Disabilities," we sought to make entrenched assumptions and practices of intellectual and developmental disabilities research visible by explicitly describing the status quo in terms of models of disability, participant and researcher identities, research priorities, and biases in measurement and treatment approaches. We then curated individual- and systems-level actions drawn from disability justice and broader social justice lenses to offer a way forward. We focused on three major areas (i.e., intersectionality and person-centered approaches, participatory research, and interprofessional collaboration), depicting influences, methods, and actions in a framework of disability, identity, and culture. In this Author Response, we address five commentaries that critique and extend that synthesis.

Identifying major research themes in the literature on developmental disabilities in Middle Eastern countries: A scientometric review from 1962 to 2023

Developmental disabilities have been widely studied in higher-income countries. However, most individuals with these conditions live in low- and middle-income countries and they are reportedly under-represented in the scientific literature. To tackle this issue, previous research has provided insight into the thematic developments in the research on developmental disabilities in Africa by means of a scientometric approach to reviews. The current work aims to extend the scientometric approach to investigate the main interests in the literature on developmental disabilities conducted in Middle Eastern countries. A total of 1110 documents were retrieved from Scopus and their patterns of co-citation were analysed with the CiteSpace software. Research in Developmental Disabilities emerged to be the main source in the sample of downloaded documents. Furthermore, a total of six main thematic domains and the four most impactful documents in the literature were identified. Results showed that research on developmental disabilities in the Middle East has been mainly focused on uncovering the genetic basis of this group of conditions. The study of clinical profiles, diagnosis, management, and treatment of individuals with developmental disabilities have been so far under-investigated and represents material for future studies.

Improving Retention of Diverse Samples in Longitudinal Research on Developmental Disabilities.

Developmental disabilities (DD) research has depended on volunteer and clinical samples, with limited racial/ethnic diversity. This study focused on improving diversity and retention in DD research. The sample included 225 parents with a child with DD and 4,002 parents without children with DD from diverse racial/ethnic groups, drawn from Midlife in the United States, a national longitudinal study. Unexpectedly, parents of children with DD from diverse racial/ethnic groups were more likely to participate longitudinally than other groups. Relative participant payment was a factor that enhanced their likelihood of retention. This research illustrates how large national studies can be leveraged to increase representativeness and ongoing participation of diverse racial/ethnic groups, especially in combination with other factors, such as parenting a child with DD.

Single-case experimental designs for child neurological rehabilitation and developmental disability research.

Single-case experimental designs (SCEDs) are a group of methodologies of growing interest, aiming to test the effectiveness of an intervention at the single-participant level, using a rigorous and prospective methodology. SCEDs may promote flexibility on how we design research protocols and inform clinical decision-making, especially for personalized outcome measures, inclusion of families with challenging needs, measurement of children's progress in relation to parental implementation of interventions, and focus on personal goals. Design options for SCEDs are discussed in relation to an expected on/off effect of the intervention (e.g. school/environmental adaptation, assistive technology devices) or, alternatively, on an expected carry-on/maintenance of effects (interventions aiming to develop or restore a function). Randomization in multiple-baseline designs and 'power' calculations are explained. The most frequent reasons for not detecting an intervention effect in SCEDs are also presented, especially in relation to baseline length, trend, and instability. The use of SCEDs on the front and back ends of randomized controlled trials is discussed. WHAT THIS PAPER ADDS: Single-case experimental designs (SCEDs) may promote flexibility on how we design research protocols. Randomization in multiple-baseline designs allows 'power' calculations based on randomization tests. Whenever feasible, N-of-1 trials should be preferred to other SCEDs and to group randomized controlled trials.

Mindfulness Initiatives for Students, Teachers, and Parents: a Review of Literature and Implications for Practice During COVID-19 and Beyond.

The use of mindfulness in schools has greatly expanded over the past 10years. Research has demonstrated positive psychological effects of mindfulness for students as well as teachers (Emerson et al., Mindfulness 8:1136-1149, 2017; Semple et al., Psychology in the Schools 54:29-52, 2017). Similarly, studies focusing on mindfulness interventions for parents of children with disabilities and/or psychosocial difficulties have also yielded a variety of positive outcomes, including reduced parenting stress, increases in quality of life, and improved parent-child interactions (Bögels et al., 2016; Rayan and Ahmad, Research in Developmental Disabilities 55:185-196, 2016). Although there has been a proliferation of mindfulness research, and mindfulness has become a buzzword in popular culture, it has not been systematically examined or applied as an approach to improving psychosocial functioning in children, school personnel, and families during COVID-19 and in online settings. This article provides a preliminary framework for this examination by reviewing relevant research and providing practical strategies and resources for school psychologists.

Special Issue of RAPIDD The Royal Commission and People with Intellectual Disabilities

"Special Issue of RAPIDD The Royal Commission and People with Intellectual Disabilities." Research and Practice in Intellectual and Developmental Disabilities, ahead-of-print(ahead-of-print), pp. 1–2

THAT'S WHAT FRIENDS ARE FOR: SOCIAL CAPITAL, DEVELOPMENTAL DISABILITY, AND THE LIFE COURSE

Abstract Social capital, resources from reciprocal relationships, helps us get by as we age. People with developmental disability have service needs that persist across the life course, which social capital can help address. However, social structures, communication problems and smaller social networks limit social capital for some people with developmental disability. We studied how researchers conceptualize, measure, and apply social capital to developmental disability research throughout the life course, reviewing peer-reviewed articles across 5 disciplines, from 2000 through February 2022. Of 673 studies, 71 met criteria. Studies used a common definition of social capital but no common measures. Fourteen studies focused on parents or other caregivers. Few included older adults with developmental disability as research participants. Results indicate a need to better understand social capital in the lives of people with developmental disability and how social capital resources can support and improve lives of people with developmental disability as they age.

Psychological adjustment of siblings of children with Prader-Willi syndrome

ABSTRACT Background Siblings of children with Prader-Willi syndrome (PWS) may be at elevated risk for poor psychological adjustment (Mazaheri, M. M., Rae-Seebach, R. D., Preston, H. E., Schmidt, M., Kountz-Edwards, S., Field, N., Cassidy, S., Packman, Wet al. (2013). The impact of Prader-Willi syndrome on the family’s quality of life and caregiving, and the unaffected siblings’ psychosocial adjustment. Journal of Intellectual Disability Research, 57(9), 861–873. ; O’Neill, L. P., & Murray, L. E. (2016). Anxiety and depression symptomatology in adult siblings of individuals with different developmental disability diagnoses. Research in Developmental Disabilities, 51, 116–125. ). The current study describes psychological distress and symptoms of post-traumatic stress disorder (PTSD) in non-disabled siblings. Method Fifty-eight siblings and 86 parents participated. Results Parents reported that almost 40% of siblings had psychological symptoms that exceeded clinical cut-off scores; 58.9% of siblings reported symptoms of PTSD that exceeded diagnostic cut-off scores. Symptoms were significantly related to family organisation and control per parent report and negative affect per sibling report. Conclusion Growing up with a sibling with PWS may challenge adaptive resources of non-disabled siblings, leaving them vulnerable to psychological distress. Those who care for children with PWS are in a unique position to educate families about the potential vulnerability of non-disabled siblings. We encourage routine screening and support for affected family members, especially siblings.

Neural Organoids Making Connections, Getting Real

Neural Organoids Making Connections, Getting Real

Science Should Push Us Forward, Not Back, to a "New Normal".

In a recent Science editorial, Christina Pagel (2022) made the point with her title that “‘Back to Normal’ Is Not Enough.” She was, of course, writing on the COVID-19 pandemic and reflecting on the past 2 years. As I write this, it is 2 years to the day since I left my “normal” work office. I still recall the conversation among several colleagues as we exited the building—that we would see each other in a couple of weeks. The weeks turned to months and the months to years. Among many of Dr. Pagel's points, she noted that evolution has positioned humans to perceive threat in time scales on the order of hours and days, not necessarily in years and decades. She was writing from the point of view of urgent looming threats specific to climate change problems and our collective response to them including complacency and sentiments in some sectors that the problems are not solvable.In this issue, through an invited commentary, Amy Hewitt, John Smith, and Liz Weintraub provide an important voice about threats of a different kind by making the point that “back to normal” for research, policy, and practice in intellectual and developmental disabilities will not be enough. Our approaches—scientific and societal—in supporting and improving the lives of individuals living with intellectual disability and associated conditions need not go back to a normal that was incomplete. From a scientific perspective, certainly there are incomplete technical problems faced by any given research agenda in intellectual disability, particularly those on frontiers (e.g., clinical genomics, implementation science, causal mechanisms) as it relates to measurement, representative recruitment and sampling, etc., but there also collective action problems—the latter often being the more difficult of the two as they require political will related to mobilizing individuals into working groups making the connections among the scientific community and the larger societal practice and policy communities.The COVID-19 pandemic has exposed problems that we—our field—may have implicitly regarded as intractable or just part of the system, part of our normal. Pay close attention to the language and the message of the Invited Commentary. My goal in inviting it was to energize and reinvigorate an imperative that the AAIDD/AJIDD research community use the strength of science to solve the challenges faced by individuals and their families living with intellectual disability; to be inclusive in our research practices; to ask the hard questions and push ourselves to be part of a collective action to answer them—the challenges are not new but COVID-19 reminds us they continue and need to be addressed with intentionality, urgency, and intellectual humility such that a “new normal” should not look like the “old.”

Dynamics of the Immune Response to MRSA Subcutaneous Skin Infection

Abstract Staphylococcus aureus is a leading cause of skin and soft tissue infections (SSTIs). While studies have examined how the immune system responds to S. aureus SSTIs, most are limited in scope to a single time point or outcome. To set a foundation for future studies, we conducted a S. aureus skin infection experiment using female C57BL/6J mice and USA300 S. aureus to examine the host-pathogen interface up to 15 days post-infection (d.p.i.). We measured lesion size, bacterial titers, local cytokine and chemokine levels, phenotyped responding leukocytes, and collected skin for histopathologic analysis and Gram staining. Lesions were largest at 1 d.p.i. with peak necrotic tissue area at 3 d.p.i. and were largely resolved by 15 d.p.i. IL-6, IL-4, CCL2, and IL-1β were highest during early infection, while IL-17A/F peaked 7 days post-infection. Neutrophils were abundant in the skin throughout the infection and were the primary immune cell present until 9 d.p.i. Histopathologic analysis demonstrated swift and extensive keratinocyte death and robust and persistent neutrophil infiltration. Gram staining revealed subdermal S. aureus colonization and, later, limited migration into upper skin layers. Most leukocyte subsets decreased within 8h after infection and returned during wound resolution coincident with declining bacterial titers. These (re)emerging leukocytes included CD4+ T cells, innate lymphoid cells, inflammatory monocytes, macrophages, and dendritic cells. Collectively, these data illustrate a dynamic immune response to S. aureus skin infections and provide a foundation for further studies characterizing the host-pathogen interface. This research was supported by funding from the National Institute of Allergy and Infectious Diseases (NIAID) award R01AI121073 as well as pilot project grants from K-INBRE (P20GM130418) and University of Kansas Chemical Biology of Infectious Disease COBRE grant P20GM113117 to JLB. We acknowledge the Kansas Intellectual and Developmental Disabilities Research Center Histology Core which is sponsored in part by the NIH/NICHD (U54 HD090216) and the Flow Cytometry Core Laboratory, which is sponsored, in part, by the NIH/NIGMS COBRE grant P30 GM103326 and the NIH/NCI Cancer Center grant P30 CA168524.

Parental Participation in Intellectual and Developmental Disability Research: A Review of Diversity

Parents provide important insights into the psychology, behaviors, and activities of themselves and their children with intellectual and developmental disabilities (IDD). However, it is unknown how prevalent parental participation in IDD research is in general, nor the diversity of geographical locations and research methods of these studies with parental participation. The current review screened 7845 published works in 7 IDD-focused journals between 2010 and 2019. A total of 1519 articles, accounting for 19.37% of all screened works, included at least one parental measure. For each parental article, we coded the country/continent of authors/participants, measurement tools used to obtain data from parents (e.g., questionnaire, interview), and the focus of the measurement (i.e., about parents, child, or both). We found an increasing number and proportion of studies involving parents between 2010 and 2019. Most studies (76%) came from North America and Europe, whereas other continents such as Africa and South America represented less than 1% of all studies reviewed. The predominant (88.0%) measurement tools were questionnaires and interviews. More studies were about both the children and the parents (42.6%) than either only the children (31.3%) or only the parents (26.1%). Together, our review showed a somewhat limited diversity in parental participation in IDD research and these findings have important implications for future research.