We recruited caregivers of individuals ages 0-21 with Down syndrome (DS) to complete an electronic survey. Multiple recruitment sources and methods were used. From 2023-2024, we received 542 valid, complete survey responses. We found the most success with use of DS affiliate organizations, the DS-Connect® contact registry for DS, and outreach to DS clinic patients. Of those who started the screener, 1,569 people screened in and were eligible; of those eligible, 730 (46.5%) consented. We experienced bots and fraudsters despite efforts to minimize those respondents from the outset. We present lessons learned in surveying caregivers from a low-incidence medical condition, with focus on our experience with invalid respondents, to inform other researchers conducting survey research related to genetic syndromes.

There is a lack of research on gender differences in adults' with autism participation in social activities (i.e., activities that provide interactions with others in the community). Using a large statewide sample (N = 775, 217 females and 558 males), we examined gender differences in the social participation of adults with autism while considering the presence of an intellectual disability (ID). No gender differences were found in total participation days. However, women with autism without ID reported participating in lower percentages of social activities that were important to them and perceiving sufficient participation in lower percentages of these important social activities than their male counterparts. They also reported lower satisfaction with participation level (i.e., perceived sufficiency in participation in important social activities) in social activities that were important to them than women with autism with ID. Implications of findings for understanding gender differences in autism across the life course are discussed.

Children with neurodevelopmental disorders (NDD) are at high risk of challenging behavior, yet families experience consistent barriers to affordable parent education in behavior management. This study tested the efficacy of a caregiver-focused Extensions of Community Health Outcomes (ECHO) program in delivering behavior management education and support to caregivers of children with NDD. A pre-post design was used to evaluate impact on 30 caregivers' behavioral knowledge, self-efficacy in managing challenging behavior, empowerment, and negative emotional reactions to challenging behavior. Participation resulted in significant improvements across outcomes and high satisfaction. The Caregiver ECHO model offers advantages in that it emphasizes peer learning, active problem solving, and community building as core components of its approach while using low-cost methodologies.

This study explored how caregiver-reported executive functioning domains, assessed by the BRIEF2 at baseline, predicted behavioral challenges reported by caregivers using the CBCL six months later. The sample included 94 youth with Down syndrome, aged 6 to 18 years. Results of hierarchical regression analyses revealed that, after controlling for the effect of IQ, working memory significantly predicted inattentive behaviors, inhibition significantly predicted rule-breaking behaviors, and both inhibition and emotional control significantly predicted aggressive and externalizing behaviors. After controlling for baseline behaviors, only working memory persisted as a significant predictor of inattentive behaviors measured six months later. The findings are discussed by referring to the relevant theories and research and providing clinical implications and recommendations for further studies.

Parent advocacy is important for the transition outcomes of autistic youth. However, it is unclear whether parent advocacy efforts support or stifle youths' self-determination. This study examined concurrent (n = 180) and longitudinal (n = 134) associations between parent advocacy and transition-aged autistic youths' self-determination (as reported by parents) and explored whether individual and family characteristics moderated this relationship. Cross-sectional results indicated a positive association between parent advocacy and self-determination for youth with higher adaptive behavior, lower externalizing behavior, and higher parent-child relationship quality. Longitudinal results demonstrated that change in parent advocacy related to change in self-determination for youth with lower adaptive behavior and higher externalizing behavior. Findings suggest that targeting parent advocacy could enhance self-determination skills in autistic youth.

Although community living and participation (CLP) is associated with increased economic self-sufficiency, rates of happiness, and high quality of life among individuals with intellectual disability (ID), the rates of individuals with ID experiencing CLP outcomes remain below their same-age peers. Although the expectations of individuals with ID and their family members influence CLP outcomes, which bioecological factors have the greatest influence on expectations remains largely unknown, thereby weakening the foundations upon which efforts and policies designed to enhance CLP are developed. The purpose of this scoping review was to map knowledge of relationships between bioecological factors and CLP expectations from the perspectives of individuals with ID and families of individuals with ID. Recommendations for research, policy, and practices are described.

Multidimensional variables linked to repetitive behavior, hyperactivity, and mood dysregulation are correlated with the prevalence and severity of self-injurious behavior (SIB) in individuals with intellectual and developmental disabilities (IDD). The purpose of this exploratory study was to examine differences in Aberrant Behavior Checklist (ABC) subscales between individuals with socially maintained SIB and automatically maintained SIB (ASIB). Overall, there were not significant differences in ABC subscale elevations between the SIB and ASIB groups. However, when ASIB was stratified into distinct subtypes, notable differences in subscale elevations were observed. Our results indicate the ABC may have utility for further characterizing the neurobehavioral divergence among individuals with IDD who engage in self-injury.

Sleep problems are common in Rett syndrome and other neurogenetic syndromes. Actigraphy is a cost-effective, objective method for measuring sleep. Current guidelines require caregiver-reported bed and wake times to facilitate actigraphy data scoring. The current study examined missingness and consistency of caregiver-reported bed and wake times from paper sleep diaries and actigraphy event mark button presses in a sample of 38 individuals with Rett and related syndromes (aged 2-36 years, mean = 13.1) across two 14-day collection time points. Rates of missingness and discrepancy between the 2 sources were relatively high and correlated with clinical severity and quality of life. Overall, the results suggest a need for alternative actigraphy scoring methods that do not rely on caregiver report in this population.

This 10-year study followed 134 caregivers of young adults with autism and intellectual disabilities, examining the effects of caregivers' coping strategies, sociodemographic features, and young adult symptomatology on caregiver well-being and depression. Lower caregiver education and higher young adult externalizing behaviors predicted lower well-being and higher depression among caregivers. Caregivers who were Black or mixed-race experienced higher depression than White caregivers. All five coping strategies investigated predicted changes in caregiver well-being and/or depression, with some effects moderated by young adult externalizing behaviors and sociodemographic features. Notably, higher use of positive coping among caregivers of adults with high externalizing behaviors predicted higher caregiver well-being and lower depression. Findings highlight the importance of effective coping strategies for improving caregiver mental health.

Tuberous sclerosis complex (TSC) is a genetic condition characterized by both medical and neuropsychiatric diagnoses that emerge across the lifespan. As part of a clinical trial, caregivers of children with TSC were interviewed about their experiences navigating medical, school, and social services. Semistructured interviews (N = 20) with caregivers of children with TSC (27-60 months) were conducted upon exit from the study. The interviews covered topics related to experiences following diagnosis, interactions with providers, sources of information, and access to services and treatment. The main themes from the caregiver interviews included: (1) sources of information about TSC and treatment; (2) access to high-quality and expert medical care; (3) perception and diagnosis of TAND; (4) impact of epilepsy on daily life, intervention, and schooling; and (5) access to therapeutic services, compatible providers, and evaluations. Additionally, parents provided recommendations for other caregivers navigating their child's early treatment following diagnosis. These results reflect the importance of current research priorities for TSC stakeholders, including implementation of existing clinical guidelines, improved access to TSC expertise, and coordinated and integrated health care.

Resilience in families of autistic children and children with intellectual disability is associated with factors such as family functioning, social support, and financial strain. Little is known about family resilience during the COVID-19 pandemic when many resources were limited. This study examined the association of family resilience with child characteristics, family resources, and socioecological factors during the pandemic. Data collected during the COVID-19 pandemic from 734 United Kingdom parents/caregivers of children who are autistic and/or have intellectual disability were analyzed using path analysis. Greater family resilience was significantly associated with fewer child behavior problems, absence of intellectual disability, higher financial status, and greater family functioning, though not school support. These factors might guide future research and practices to support vulnerable families at risk of low resilience.

Vitamin D measurements and dual energy x-ray absorptiometry (DXA) scans are recommended in people with intellectual disability and/or epilepsy in order to prevent bone-linked harm. The prevalence of vitamin D supplementation and bone mineral density screening were evaluated in 68 people with epilepsy and intellectual disability (EID) and 68 matched controls with epilepsy without intellectual disability. DXA scans were not performed in any of the people with EID but were performed in 11.8% of the people in the control group. People with EID had a higher vitamin D supplementation rate and were treated with more antiepileptic drugs (AEDs) and more AED combinations, including first generation AEDs. Increased awareness of bone health screening in people with epilepsy and especially EID is warranted.

This study describes the role of psychiatric pharmacists (PPs) in medication management at a county-hospital-based primary care clinic serving adults with intellectual and developmental disabilities (IDD). During a 20-week period, PPs provided 308 interventions for 97 patients with IDD, 55% of whom had a concomitant psychiatric/behavioral disorder and 70% of whom were taking at least one psychotropic medication. PP services included medication reviews (48%), medication histories (13%), collaborative care (12%), pharmacotherapy interventions (11%), advisory services (9%), and patient/caregiver education (7%). Psychotropics were involved in 66% of interventions. Our results demonstrate that PPs may address psychotropic-related challenges in this practice setting by performing a variety of services. Additional studies are needed to fully evaluate the impact of this integrative model.

Various intervention usage is associated with positive outcomes for children with autism. However, the intensity of these interventions tends to be below recommendations, especially for minoritized children. This study aimed to examine how average weekly intervention hours among children vary by sociodemographic factors. Regression analyses were conducted using data from 2,857 participants with autism included in the Simons Simplex Collection. Findings indicated the amount and type of intervention received varied by race, ethnicity, family income, and maternal education. This study marks an important step in documenting the extent of sociodemographic intervention disparities; and, helps to elucidate which therapy types are most readily underused and by which groups to help inform approaches to increase more equitable access.

Medical professionals commonly report having inadequate training providing care for individuals with intellectual and developmental disabilities (IDD). This pilot study aimed to address this gap through a virtual Objective Structured Clinical Examinations (OSCE) with individuals with IDD as patient educators for 25 first- and second-year medical students (OSCE participants). Quantitative data through the Prediger competency scale and qualitative data through a semistructured interview were analyzed. OSCE participants reported a significant increase (p < 0.05) in self-perceived competency scores when comparing pre- and post-OSCE scores. Qualitative analysis yielded themes corresponding to improving skills, practice considerations, and perspectives and biases changes. These results suggested that this virtual OSCE promoted the development of self-perceived clinical competency and comfort providing care for individuals with IDD.

The gestures produced by children with intellectual disability (ID) in spatial tasks are rarely considered, although they have a supporting role in the formation of thought. In this research study, we analyzed the number of gestures, the type of gestures, and their role in the expression of knowledge of students with ID. Twenty students (12-17 years old) with ID and 40 students with typical development (TD) matched on visual-spatial level (n = 20) and on language level (n = 20) participated in the research. Students with ID made significantly more gestures in relation to the number of words spoken compared to their peers with TD. Thirty percent of the expressive communication of students with ID came from gestures alone, and 60% of the responses contained at least one gesture. Finally, the higher the level of task difficulty, the more gestures the students made.

Sibling relationships often involve exchanges of emotional and tangible support. When one sibling has a disability, the nature of the reciprocity of such support may differ from sibling pairs wherein no disability is present. Specifically, when an individual has autism, the nature of emotional and tangible reciprocity is unclear given the potential for a supportive or caregiving role of the sibling without autism. In this study, 256 adult siblings of autistic individuals completed a national survey. Analyses included descriptive statistics describing the nature of reciprocity and hierarchical regressions to identify the correlates of emotional and tangible reciprocity. Overall, participants often reported not giving or receiving much tangible support to/from their autistic sibling while they often gave and, to some extent received, emotional support from their autistic sibling. When the autistic sibling had more asocial behaviors, participants were more likely to provide emotional support than receive it. When participants engaged in more caregiving, they both gave and received more emotional and tangible support. Implications for research and practice are discussed.