Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.

Medicaid long-term services and supports and caregiving needs of caregivers of individuals with intellectual and developmental disabilities.

BACKGROUND: Long-term care services are funded primarily by Medicaid long-term services and support in the United States, where eligibility is based on care needs of the individual with intellectual and developmental disability alone. Impact of Medicaid waiver services on self-reported caregiver needs is not well understood. METHOD: Caregivers (n = 405) of individuals with intellectual and developmental disabilities across four states (NY, OH, TX, and PA) completed an online survey. RESULTS: Caregivers reported a moderate degree of burden and susceptibility of stress-induced health breakdown. Despite controlling for the activities of daily living of the care recipient, caregivers of individuals with Medicaid Waiver services reported greater difficulty managing medications (p = .013) and finding paid help (p < .001) than caregivers of individuals without services.

Caregiver support, burden, and long-term planning among caregivers of individuals with intellectual and developmental disabilities: A cross-sectional study.

BACKGROUND: Long-term care planning (LTCP) is critical for individuals with intellectual/developmental disabilities. Objectives of this study were to investigate progression through LTCP, and associations between social support and: (1) LTCP and (2) burden among family caregivers. METHODS: A cross-sectional survey was distributed to caregivers of individuals with intellectual/developmental disabilities in NY, OH, PA, and TX, exploring demographics, supports, burden, and LTCP behaviours. Bivariate and linear multiple regression analyses were used to investigate study objectives. RESULTS: Caregivers (n = 405) were predominantly parents, female, non-Hispanic, and in the 'learning to plan' stage of LTCP. Caregiver-identified social support was associated with further progression in LTCP (p = .020) and lower caregiver burden (p < .001). CONCLUSION: Social support was associated with further progression in LTCP, and associated with less burden, however fewer than 40% of caregivers reported having social support. Ongoing exploration of emotional/social needs of caregivers is necessary to better support these families.

Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals.

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder. Family-centered care (FCC) is a healthcare delivery approach that aims to create an equal partnership between caregivers and providers. FCC has been shown to improve parental wellbeing, their knowledge of the condition and care, and improve their feelings of self-efficacy and personal control. The purpose of this study was to explore the healthcare experiences of family caregivers of children and adults with RTS to understand the issues they encounter when working with medical professionals and to examine their perspectives on how to improve FCC. Primary family caregivers of individuals with RTS took an online mixed-method survey that contained three primary components: a demographic survey, the Measures of Processes of Care-20 (MPOC-20) [a measure of the FCC an individual feels they receive], and a qualitative assessment of negative and positive interactions with medical professionals and priority areas for improvement. Qualitative data were analyzed using thematic analysis. Quantitative data were analyzed with descriptive statistics. An analysis of variance test was used to determine whether values statistically differed between different-age groups of individuals with RTS being cared for. Sixty-three caregivers completed the survey. The average score of the Providing General Information subscale of the MPOC-20 was 3.18, lower than that seen in other studies. The average scores of the other subscales of the MPOC-20 ranged from 4.60 to 5.02, comparable to other studies of caregivers of children with other medical conditions. All aspects of FCC were ranked as important by caregivers. There were no differences in MPOC-20 values between those caring for the individuals with RTS in different-age groups reviewed. In the qualitative responses, parents noted that experiences with medical professionals would be improved if healthcare providers actively provided FCC, collaborated with parents and other providers, respected caregivers' time and breadth of knowledge and lived experience, gave a more balanced description of the condition, showed greater respect toward their loved ones and included them in the conversation, and made an effort to learn about RTS. The changes that parents would like to see in their child's care were not specific to one discipline and could be implemented by all healthcare specialists. While caregivers report that they receive moderate levels of FCC, they indicated that areas of FCC could be improved.

Identifying key components of a web-based long term care planning intervention for family caregivers of individuals with intellectual/developmental disabilities.

BACKGROUND: Few family caregivers of individuals with intellectual or developmental disabilities develop long-term care (LTC) plans for their relative. Web-based interventions promoting LTC planning have potential for widespread adoption into clinical practice. METHODS: We conducted focus groups with 49 primary caregivers of individuals with intellectual or developmental disabilities in NY, PA, OH, DE, and TX to identify barriers and facilitators of LTC planning, review existing tools, and identify critical features for web-based LTC planning interventions. Participants also answered questions on demographic characteristics and functional status. RESULTS: NVivo qualitative analysis software was used to analyse focus groups using a grounded theory approach. Caregivers identified web tool accessibility and topics such as finances, housing, and government benefits as critical. Caregivers also described desired features for a LTC planning tool. CONCLUSIONS: This study identified desired characteristics of web-based LTC planning tools and ways in which existing web-based interventions might be adapted or enhanced.

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.

Seeking Out Social Learning: Online Self-Education in Parents of Children With Intellectual and Developmental Disabilities.

Supportive, informed parenting is critical to improve outcomes of children who experience intellectual and developmental disabilities (IDD). Parents want to learn about their child's condition, needs, and strategies to improve family life. The internet is a valuable resource, but how parents evaluate and apply information is unknown. We conducted focus groups to understand how parents use internet resources to learn about their children with IDD. Parents described using the internet to access information from trusted sources, find examples to apply their knowledge, and seek social support. Social learning theory, which posits that cognitive, behavioral, and social processes influence each other to support real-world learning, could provide a theoretical framework for unifying these findings and for designing efficacious online interventions.

Implementing Living Independent From Tobacco With Dyads of People With Disabilities and Their Caregivers: Successes and Lessons Learned.

People with disabilities have more health complications and higher healthcare utilization related to tobacco use than people without disabilities. Yet, they are less likely to use tobacco cessation resources. Important to meaningful and lasting health behavior change are relationships developed in the home, workplace, and community. Some people with disabilities rely on paid and unpaid caregivers. Just like people with disabilities, paid caregivers are more likely to use tobacco, creating a unique opportunity to target smoking cessation to people with disabilities and their caregivers. Living Independent From Tobacco (LIFT), an evidence-based tobacco cessation intervention, was implemented with dyads of people with disabilities (n = 5) and their caregivers (n = 7). Qualitative analyses revealed that participants valued the dyadic approach and the opportunity to learn coping skills to help with smoking cessation. Lessons for offering inclusive health promotion interventions to people with disabilities and their caregivers are discussed.

Living Independent From Tobacco reduces cigarette smoking and improves general health status among long-term tobacco users with disabilities.

BACKGROUND: People with disabilities disproportionately use tobacco and suffer associated negative health consequences. Research is needed to explore tobacco cessation programming for people with disabilities to counter these health disparities. OBJECTIVE: We evaluated the impact of Living Independent From Tobacco on tobacco use, knowledge and attitudes about tobacco use, coping skills, and perceived health status among people with disabilities. We also assessed participants' subjective impressions at post-test. METHODS: Living Independent From Tobacco was evaluated via train the trainer model at three Midwestern sites serving people with disabilities. Outcomes were assessed at four time points: pre- and post-test (n = 30), and again at 1-month (n = 26) and 6-months (n = 13). RESULTS: Long-term tobacco users with disabilities significantly reduced tobacco use from pre-test to post-test (p = 0.003), and, compared to baseline, this reduction continued to be significant 1-month after the intervention (p = 0.02). From pre-test to post-test, perceived health status significantly improved (p = 0.0001). No significant changes were observed across time points for knowledge and attitudes about tobacco use nor for coping skills. Qualitative data revealed the importance of coping skills to mitigate the negative effects of nicotine withdrawal. Peer accountability was also noted as an important source of motivation for tobacco cessation. CONCLUSIONS: Data from the present study provide evidence for the short-term effectiveness of Living Independent From Tobacco to reduce tobacco use and improve health status among people with disabilities. Qualitative data revealed the importance of coping skills and peer accountability to support tobacco cessation. Implications for tobacco cessation programming for people with disabilities are discussed.

Implications of Health Equity for Children With Disabilities.

This Viewpoint discusses how the National Institutes of Health designation of individuals with disabilities as a health disparity population can boost research participation and funding and expand health care access for pediatric patients with disabilities.

Evidence for the Fidelity and Effectiveness of Living Independent From Tobacco for People with Disabilities and Their Caregivers.

People with disabilities (PWD) are more likely to use tobacco and less likely to access tobacco cessation programs compared with people without disabilities. Living Independent From Tobacco (LIFT), an evidence-based intervention designed for PWD, was piloted with dyads of PWD (n = 5) and their caregivers (n = 7). As an important source of practical and social support for PWD, caregivers also impact health-related attitudes, knowledge, and behaviors of PWD. Caregivers who smoke may unwittingly interfere with cessation efforts of the people they support. We found that LIFT could be offered to dyads of PWD and their caregivers with fidelity. The intervention was associated with increased use of coping strategies and self-efficacy to reduce smoking. Tobacco use decreased at post-test (-34.94%), with further reduction 6-months after the intervention (-50.60%). Implications for offering inclusive health promotion interventions to both PWD and their caregivers are discussed.

Enhancing language in children who are deaf/hard-of-hearing using augmentative and alternative communication technology strategies.

BACKGROUND: Despite early identification and intervention, many children who are deaf/hard of hearing (D/HH) demonstrate significant gaps in language development which can directly impact social interactions. AIMS: The objective of this pilot study was to determine whether integrating augmentative and alternative communication (AAC) core word language strategies into a speech-language therapy program for young children who are D/HH improves spoken language outcomes. METHODS: Eleven young children, median age 5 years 7 months (range 3y;11 m to 10y;8 m) with bilateral hearing loss were enrolled in a single-case experimental design and completed a 24-week intervention that incorporated high-tech AAC strategies into a traditional speech-language therapy model (technology-assisted language intervention or TALI). The goal of the TALI was to improve spoken language development in children who were D/HH. Language samples were collected throughout the study and pragmatic language was assessed pre and post intervention. RESULTS: At the end of 24 weeks, children demonstrated a significant increase in their mean length of utterance, number of words spoken, and mean turn length according to language samples. Children also made gains in their pragmatic skills pre to post intervention. CONCLUSIONS: Results of this study suggest that using AAC core word language strategies delivered via iPad technology may support continued and rapid spoken language skill growth among young school-age children who are D/HH. By leveraging AAC technology, we are pioneering a structured and dynamic approach to language learning, building an effective foundation for concepts and grammar for children who are D/HH.

Caregiving for youth with co-occurring developmental disabilities and behavioral health issues when caregivers face additional health-related stressors: Analysis of risk and protective factors from a national sample.

BACKGROUND: Family caregivers of youth with DD and behavioral health issues experience the highest level of caregiving strain. Many must also deal with their own or another family member's chronic health condition, which may place them at additional risk for poor outcomes. AIMS: (1) Provide a "snapshot" of DD family caregivers based on a national sample; (2) identify risk and protective factors among groups of DD caregivers with graduated levels of health-related stressors; (3) examine the impact of risk and protective factors on strain for DD caregivers. METHODS AND PROCEDURES: We conducted a secondary analysis of data from N=600 DD caregivers recruited through sites across the United States. Risk and protective factors were compared among three groups of caregivers at study enrollment: (1) those focused on providing care for the target youth with DD, without additional health-related stressors with which to contend; (2) those contending with minor additional health-related stressors; and, (3) those contending with major additional health-related stressors. Predictors of caregiving strain at six months post-enrollment were identified. RESULTS: 52% of the overall sample was unemployed and 71% were living at or below poverty. Differences were found among groups on a variety of risk and protective factors. With some exceptions, predictors of caregiving strain were similar to non-DD populations. CONCLUSIONS AND IMPLICATIONS: This study provides valuable information about a population of caregivers who are highly vulnerable to poor outcomes. Findings highlight the importance of considering the needs, strengths, and outcomes of family caregivers.

The Associations of Chronic Condition Type and Individual Characteristics With Transition Readiness.

OBJECTIVE: Identifying differences in transition readiness according to chronic condition is essential for understanding whether special emphasis within specific populations is warranted. Youth with chronic conditions (type 1 diabetes, Turner syndrome, spina bifida, autism spectrum disorder [ASD]) representing various types of impairments were compared with youth without chronic conditions. It was hypothesized that differences would be observed according to condition type, with youth with cognitive/behavioral conditions showing less readiness than youth with other conditions and youth without chronic conditions showing the highest levels of transition readiness. METHODS: Patients (N = 163) ages 12 to 22 were recruited via outpatient clinics at a large freestanding children's hospital. Demographic characteristics (age, sex, race, and maternal education), health literacy, perceptions about health care responsibility, importance and confidence about transfer to adult health care, and the Transition Readiness Assessment Questionnaire (TRAQ) were included. RESULTS: Significant differences in transition readiness were found according to condition type; youth with ASD had the lowest transition readiness scores. Patient and family characteristics and condition were predictors of TRAQ scores and self-perceived readiness to take responsibility for health care and transfer to adult care. Item-level analysis indicated that medication, appointment-keeping, and activities of daily living accounted for differences in TRAQ scores according to condition. CONCLUSIONS: Disparities in transition readiness were detected across condition types, with potentially modifiable mechanisms identified to address gaps in readiness for youth transferring to adult health care systems. Developing interventions that assist providers in addressing these modifiable characteristics might improve transition to adult health care for adolescents with various chronic conditions.