An examination of adaptive behavior and functional outcomes in adults with 22q11.2 deletion syndrome: A parental perspective.

22q11.2 Deletion Syndrome (22q11DS) is a genetic syndrome caused by a chromosomal microdeletion. It affects approximately 1 in 850-992 pregnancies, and its clinical manifestations include congenital heart disease, gastrointestinal symptoms, and psychiatric illnesses. The study examined the relationship between adaptive behavior and functional outcomes, educational attainment, employment, and independent living, and whether age, gender, intellectual disability, presence of psychiatric disorder, and close friendships could predict levels of adaptive behavior. Parents of adults with 22q11DS (n = 101; 48 male and 54 female) completed the Waisman Activities of Daily Living Scale, demographic details, and questions elicited employment, education, and relationships status. Analysis conducted in SPSS, included descriptive statistics, measures of association, Analysis of Variance, logistic and linear regressions. Differences in levels of overall adaptive behavior were found regarding employment and living status, but not in educational attainment. Having close friendships was associated with adaptive behavior as well as the likelihood of living independently. Further research is needed, ideally using prospective designs and purposive sampling strategies. This needs to examine how social and communication deficits impact relationship building and how they are affected by the clinical manifestations of 22q11DS. It also needs to focus on how different social structures interface with levels of adaptive behavior.

Informal STEM learning: Examples from everyday spatial behaviors.

Introduction: Extensive research has shown a close relationship between spatial abilities and success in STEM disciplines because many STEM problems often require students to reason about spatial information. Everyday spatial behaviors may predate and facilitate the development of spatial skills. Therefore, the current study examined children's everyday spatial behaviors and their associations with broader child development outcomes and individual differences. Methods: Based on previous research, we developed an everyday spatial behaviors questionnaire for children (ESBQC). A total of 174 parents and their children aged 4-9 years old participated. In ESBQC, parents rated how much difficulty their children experience with different spatial behaviors, such as putting together a puzzle, retracing a route, or hitting a moving ball. Results: Factor analysis revealed 8 components in ESBQC. The internal reliabilities were relatively high. ESBQC was positively correlated with age but not with sex. Furthermore, ESBQC predicted sense of direction, even after considering age and bias associated with parent reports. Discussion: Our questionnaire may provide a useful tool for parents and other stakeholders to better understand everyday spatial behaviors and encourage interest and competence in spatial skills, ultimately promoting STEM learning in informal, everyday settings.

Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome.

Introduction: Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder characterized by developmental and intellectual disability, broadening of thumbs and halluces, and characteristic facial features. Pathogenic variants in CREBBP lead to RSTS type 1 (RSTS1) and in EP300 lead to RSTS type 2 (RSTS2). Individuals with RSTS can demonstrate a variety of behavioral and neuropsychiatric challenges, including anxiety, hyperactivity/inattention, self-injury, repetitive behaviors, and aggression. Behavioral challenges are consistently reported as one of the primary factors impacting quality of life. Despite the high prevalence and morbidity of behavioral and neuropsychiatric features of RSTS, a paucity of data exists regarding its natural history. Methods: To better understand the neurocognitive and behavioral challenges faced by individuals with RSTS, 71 caregivers of individuals with RSTS, ranging in age from one to 61 years, completed four questionnaires measuring obsessive compulsive disorder (OCD)-like symptoms, anxiety, challenging behaviors, and adaptive behavior and living skills. Results: Results revealed a high prevalence of neuropsychiatric and behavioral challenges across ages. We found specific challenging behaviors were worse in school age individuals. Scaled adaptive behavior and living skill scores differed across ages with an increased gap between typically developing peers becoming more apparent at older ages. Between types, individuals with RSTS2 had better adaptive behavior and living skills and less stereotypic behaviors but higher social phobia than individuals with RSTS1. Further, female individuals with RSTS1 appear to have increased hyperactivity. However, both groups had impairments in adaptive functioning compared to typically developing peers. Discussion: Our findings support and expand previous reports of a high prevalence of neuropsychiatric and behavioral challenges in individuals with RSTS. However, we are the first to report differences between types of RSTS. Further, age-related differences were seen with higher challenging behaviors within school-age individuals, which may improve over time, and lower adaptive behavioral skills compared to normative scales. Anticipation of these potential differential challenges across age is vital for proactive management for individuals with RSTS. Our study underscores the importance of enacting neuropsychiatric and behavioral screening earlier in childhood so appropriate management can be implemented. However, further longitudinal studies in larger cohorts are needed to understand better how behavioral and neuropsychiatric characteristics of RSTS evolve over the lifespan and differentially affect subpopulation groups.

Internet-Connected Technology in the Home for Adaptive Living.

Recent advances in commercial home automation, or Smart Home, technology may augment adaptive living. Although these interconnected devices were not designed specifically for individuals with disabilities, they may increase independence with tasks in the home, such as adjusting the temperature or lighting, cleaning, and maintaining home security. As these integrated systems continue to advance in capability and availability, the potential for adaptive application continues to grow. This article highlights categories of currently available consumer devices with potential for application to adaptive living, and outlines the ways in which these novel devices might augment more traditional approaches to maximizing function.

Factors associated with sustained community employment among adults with autism and co-occurring intellectual disability.

Sustaining community employment is a challenge for adults with autism spectrum disorders, especially for those who have co-occurring intellectual disability, but factors contributing to this employment outcome have not been fully evaluated. This study utilized longitudinal data to explore the impact of contextual influences, family factors, and individual characteristics on sustained employment over approximately 18 months ( N = 105). Very few adults with autism spectrum disorder and intellectual disability achieved sustained employment (14.3%). The results indicated that more independent daily living skills, a higher family income, a larger maternal social network, an inclusive school environment in early childhood, and currently living in an area with a larger population size were associated with significantly greater odds of sustaining employment. Follow-up analyses suggested that managing personal care is particularly important for employment.