Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk.

Little is known about the role of non-coding regions in the etiology of autism spectrum disorder (ASD). We examined three classes of non-coding regions: human accelerated regions (HARs), which show signatures of positive selection in humans; experimentally validated neural VISTA enhancers (VEs); and conserved regions predicted to act as neural enhancers (CNEs). Targeted and whole-genome analysis of >16,600 samples and >4,900 ASD probands revealed that likely recessive, rare, inherited variants in HARs, VEs, and CNEs substantially contribute to ASD risk in probands whose parents share ancestry, which enriches for recessive contributions, but modestly contribute, if at all, in simplex family structures. We identified multiple patient variants in HARs near IL1RAPL1 and in VEs near OTX1 and SIM1 and showed that they change enhancer activity. Our results implicate both human-evolved and evolutionarily conserved non-coding regions in ASD risk and suggest potential mechanisms of how regulatory changes can modulate social behavior.

Barriers and Facilitators to Youth Decision-Making Involvement in Families Referred for Stem Cell Transplant.

Youth prefer to be involved in treatment decisions, yet youth participation is minimally present in decisions like stem cell transplant (SCT) that require frequent medications and social isolation to be successful in curing cancer and chronic illness. The purpose of our study is to identify the barriers and facilitators to youth decision-making involvement in the youth-parent interaction when referred for treatment with SCT. We report qualitative findings from our theory-driven mixed-methods study. We thematically analyzed our field notes of youth and parent observations and audio-recordings during SCT consultations and semi-structured interviews. Data were collected from 10 youth, 8 to 16 (median 12) years of age, and their parents (n = 20). Three themes emerged: (a) Reluctant unless motivated, (b) Uncertain but capable, and (c) Limited unless supported. Our findings emphasize the critical role parents may take in facilitating youth involvement in decisions.

Understanding how children and young people with chronic non-cancer pain and their families experience living with pain, pain management and services: a meta-ethnography.

Background: Childhood chronic pain is a widespread public health issue. We need to understand how children with chronic pain and their families experience chronic pain and its management. Objectives: To conduct a meta-ethnography on the experiences and perceptions of children with chronic pain and their families of chronic pain, treatments and services. We investigated how children and their families conceptualise and live with chronic pain; what they think of and want from health and social care services; and what they conceptualise as 'good' pain management. Design: Meta-ethnography with stakeholder and patient and public involvement in the design, search and sampling strategies, analysis and dissemination. Review strategy: comprehensive searches of 12 bibliographic databases and supplementary searches in September 2022, to identify qualitative studies with children aged 3 months to 18 years with chronic non-cancer pain and their families. We included studies with rich explanatory data; appraised methodological limitations using the Critical Appraisal Skills Programme tool; and extracted, analysed and synthesised studies' findings. We used Grading of Recommendations Assessment, Development and Evaluation-confidence in the evidence from reviews of qualitative research to assess confidence in review findings. We integrated findings with 14 Cochrane treatment effectiveness reviews on children's chronic non-cancer pain. Results: We synthesised 43 studies sampled from 170 eligible studies reported in 182 publications. Studies had minor (n = 24) or moderate (n = 19) methodological limitations. Grading of Recommendations Assessment, Development and Evaluation-confidence in the evidence from reviews of qualitative research assessments of review findings were high (n = 22), moderate (n = 13) or very low confidence (n = 1). Moderate and severe chronic pain had profound adverse impacts on family members' well-being, autonomy and self-identity; family dynamics; parenting approaches; friendships and socialising; children's education and parental paid employment. Most children and families sought a biomedical cure for pain. They experienced difficulties seeking and receiving support from health services to manage pain and its impacts. Consequently, some families repeatedly visited health services. Cochrane reviews of intervention effects and trials did not measure some outcomes important to children and families, for example effects of pain on the family and resolution of pain. Reviews have mainly neglected a biopsychosocial approach when considering how interventions work. Limitations: There were limited data on common pain conditions like migraine/headache, abdominal pain; some rarer conditions; children with learning disabilities and under-fives; siblings; fathers and experiences of treatments/services. We excluded studies on cancer, end-of-life pain and experiences of healthcare professionals. Conclusions: We developed the family-centred theory of children's chronic pain management, integrating health and social care with community support. Future work: Future research should explore families' experiences of services and treatments, including opioids, and social care services; experiences of children with autism and learning disabilities, under 5 years old and with certain common pain conditions. We need development and testing of family-centred interventions and services. Study registration: This study is registered as PROSPERO (CRD42019161455) and Cochrane Pain, Palliative and Supportive Care (623). Funding: This award was funded by the National Institute for Health and Care Research (NIHR) Health and Social Care Delivery Research programme (NIHR award ref: NIHR128671) and is published in full in Health and Social Care Delivery Research; Vol. 12, No. 17. See the NIHR Funding and Awards website for further award information.

Chronic pain lasting 3 months or more affects at least 8% of children in the UK. It causes difficulties with many aspects of children's lives including relationships, school attendance and use of National Health Services. In the UK, there are few specialist services and a lack of high-quality research for managing children's chronic pain. Our study aimed to locate and pull together existing research on the experiences and views of children with chronic pain and their families. We wanted to find out how they think about and live with chronic pain, and their views and experiences of services and treatments, and what they want to achieve from them. We conducted this study alongside children with chronic pain and their families, charities, healthcare professionals and academic experts. They helped us to conduct the study and to ensure our findings are relevant to children, families and the National Health Service. We pulled together data from 43 studies that best answered our questions. We found that moderate and severe children's chronic pain that was not well managed affected the whole family, including their relationships and social lives. Families found it difficult to get help and a diagnosis from health services. Most families wanted a medical cure for pain. Families had long waits for answers and treatment but gradually realised there may be no cure, so they focused on living well with pain or gave up hope. Children and families from ethnic minority groups or with a learning disability experienced discrimination. Few studies focused on children under 5 years old, children with learning disabilities or experiences of services. Families need a pain management approach tailored to the whole family's needs involving schools, social care and health services. Our findings could improve treatment guidelines, training of health and social care professionals and service design and treatments.

Rural veteran perception of healthcare access in South Carolina and Florida: a qualitative study.

BACKGROUND: Access to mental and physical healthcare in rural areas is challenging for Veterans and their families but essential for good health. Even though recent research has revealed some of the challenges rural Veterans face accessing healthcare, a complete understanding of the gap in access is still unclear. METHODS: This qualitative study aimed to explore participants' perceptions of healthcare access. Structured interviews were conducted with 124 Veterans and spouses of Veterans from rural qualifying counties in South Carolina and Florida. RESULTS: The study's results revealed five main dimensions of access: geographic proximity, transportation, communication, cultural competence, and resources. Distance to service needed can negatively impact access for Veterans and their families in general, especially for those whose health is declining or who cannot drive because of their age. Lack of transportation, problems with transportation services, and lack of public transportation can lead to delays in care. Additionally, the lack of communication with the Veterans Affairs (VA) Health System and with the healthcare team, as well as inefficient communication among the healthcare team, lack of coordination of care between the VA health system and community providers, and the lack of cultural competence of healthcare providers and contracted personnel made access to services even more challenging. CONCLUSIONS: Improving communication can help to develop a sense of trust between Veterans and the VA, and between Veterans and spouses with the healthcare team. It can also lead to increased patient satisfaction. Ensuring healthcare providers and contracted personnel are culturally competent to talk and treat Veterans can improve patient trust and adherence to treatment. Lastly, resource-related challenges included financial problems, lack of prompt access to appointments, lack of providers, limited access to local clinics and hospitals, limited local programs available, and reimbursement issues.

Processes of change in family therapies for anorexia nervosa: a systematic review and meta-synthesis of qualitative data.

OBJECTIVE: To synthesise young person and family member perspectives on processes of change in family therapy for anorexia nervosa (AN), including systemic family therapy and manualised family-based treatments, to obtain an understanding of what helps and hinders positive change. METHOD: A systematic search of the literature was conducted to identify qualitative studies focussing on experiences of therapeutic change within family therapies for AN from the perspectives of young people and their families. Fifteen studies met inclusion criteria and underwent quality appraisal following which they were synthesised using a meta-synthesis approach. RESULTS: Six overarching themes were generated: "A holistic focus on the young person's overall development"; "The therapeutic relationship as a vehicle for change"; "The therapist's confinement to a script and its impact on emotional attunement"; "A disempowering therapeutic context"; "Externalisation of the eating disorder (ED)"; and "The importance of family involvement". Positive change was helped by understanding and support given to the young person's overall development including their psychological, emotional, social and physical wellbeing, positive therapeutic relationships, relational containment within the family system and externalising conversations in which young people felt seen and heard. Positive change was hindered by inflexibility in the treatment approach, counter-effects of externalisation, negative experiences of the therapist, a narrow focus on food-intake and weight, as well as the neglect of family difficulties, emotional experiences, and psychological factors. CONCLUSIONS: Positive change regarding the young person's eating-related difficulties ensued in the context of positive relational changes between the young person, their family members, the therapist and treatment team, highlighting the significance of secure and trusting relationships. The findings of this review can be utilised by ED services to consider how they may adapt to the needs of young people and their families in order to improve treatment satisfaction, treatment outcomes, and in turn reduce risk for chronicity in AN.

This review synthesises the views of young people and their family members regarding their perspectives of therapeutic change within family therapies for Anorexia Nervosa (AN), including both manualised eating disorder-focussed family therapy models (family-based treatment; FBT and AN-focussed family therapy; FT-AN), as well as systemic family therapy (SyFT), to understand which aspects of these treatment approaches are helpful versus hindering to recovery from an eating disorder (ED). Parental involvement was crucial in facilitating the restoration of physical health through the process of parents taking temporary responsibility for the young person's eating behaviours until they can feed themselves again. However, treatment often failed to acknowledge and address the psychological and emotional difficulties that made the young person vulnerable to developing AN, as well as the psychological distress caused by increasing food-intake and weight. A positive therapeutic relationship in which families felt well supported by their therapist was important in providing containment during a time of familial strain and instability, yet there was a need for greater flexibility and individualisation within manualised ED-focussed family therapy approaches, particularly FBT. The findings highlight the importance of eliciting the young person's voice to enhance their personal agency in treatment and the value of therapeutic space to improve family functioning and enhance family unity. Lastly, they illuminate the need for manualised ED-focussed family therapy models to allow space for the therapist to emotionally attune to young people and families in order to contain their experience of distress.

Race, Poverty Status at Birth, and DNA Methylation of Youth at Age 15.

Epigenetic studies, which can reflect biological aging, have shown that measuring DNA methylation (DNAm) levels provides new insights into the biological effects of social environment and socioeconomic position (SEP). This study explores how race, family structure, and SEP (income to poverty ratio) at birth influence youth epigenetic aging at age 15. Data were obtained from the Future of Families and Child Wellbeing Study (FFCWS) cohort, with GrimAge used as a measure of DNAm levels and epigenetic aging. Our analysis included 854 racially and ethnically diverse participants followed from birth to age 15. Structural equation modeling (SEM) examined the relationships among race, SEP at birth, and epigenetic aging at age 15, controlling for sex, ethnicity, and family structure at birth. Findings indicate that race was associated with lower SEP at birth and faster epigenetic aging. Specifically, income to poverty ratio at birth partially mediated the effects of race on accelerated aging by age 15. The effect of income to poverty ratio at birth on DNAm was observed in male but not female youth at age 15. Thus, SEP partially mediated the effect of race on epigenetic aging in male but not female youth. These results suggest that income to poverty ratio at birth partially mediates the effects of race on biological aging into adolescence. These findings highlight the long-term biological impact of early-life poverty in explaining racial disparities in epigenetic aging and underscore the importance of addressing economic inequalities to mitigate these disparities. Policymakers should focus on poverty prevention in Black communities to prevent accelerated biological aging and associated health risks later in life. Interventions aimed at eliminating poverty and addressing racial inequities could have significant long-term benefits for public health. Future research should explore additional factors contributing to epigenetic aging and investigate potential interventions to slow down the aging process. Further studies are needed to understand the mechanisms underlying these associations and to identify effective strategies for mitigating the impact of SEP and racial disparities on biological aging.

Exploring Sibling Relationship Quality among Latinx Siblings: A Systematic Review.

This systematic review addresses the gap in the literature regarding sibling relationship quality among Latinx families, a topic that has not been comprehensively examined to date. This study aimed to synthesize current research on sibling relationship quality in Latinx families, focusing on the influence of cultural factors, identifying key variables associated with sibling relationship quality, and evaluating the methodological approaches used. This paper is a systematic review based on a recently published evidence and gap map (EGM) that identified and visually presented all published studies investigating sibling relationship quality. Additional inclusion criteria were applied to select articles that specifically examined sibling relationship quality in the United States samples with at least 50% Latinx participants. The review included 12 articles representing 6 distinct studies, revealing significant findings on the roles of familism, simpatía, and gender in shaping sibling dynamics. Results indicated that cultural values such as familism and simpatía positively influence sibling intimacy and warmth, while gender dynamics further moderate these relationships. Methodologically, the articles employed longitudinal and cross-sectional designs, utilizing various quantitative measures. The findings underscore the importance of culturally sensitive approaches in studying sibling relationships and highlight the need for further research to explore these dynamics in diverse Latinx subgroups.

Math talk by mothers, fathers, and toddlers: Differences across materials and associations with children's math understanding.

Learning words for numbers, shapes, spatial relations, and magnitudes-"math talk"-relies on input from caregivers. Language interactions between caregivers and children are situated in activity contexts and likely affected by available materials. Here, we examined how play materials influence the math talk directed to and produced by young children. We video-recorded parents (mothers and fathers; English- and/or Spanish-speaking) and their 24- to 36-month-olds during play with four sets of materials, transcribed and coded types of parent and toddler math words/phrases, and assessed toddlers' understanding of number, shape, and spatial relations terms. Categories of math words varied by materials. Numeracy talk (e.g., "one," "two," "first," "second") was more frequent during interactions with a picture book and toy grocery shopping set than with a shape sorter or magnet board; the reverse held for spatial talk (e.g., "out," "bottom," "up," "circle"). Parent math talk predicted toddler math talk, and both parent and toddler math talk predicted toddlers' understanding of spatial and number words. Different materials provide unique opportunities for toddlers to learn abstract math words during interactions with caregivers, and such interactions support early math cognition.

Enhancing discharge preparation for parents after complex cardiac surgery: evaluation of an e-learning resource for nurses.

Parents need to be appropriately prepared by knowledgeable healthcare professionals before going home with their infant following cardiac surgery for complex congenital heart disease (CHD). A quality improvement project was undertaken between 2018 and 2021 to equip healthcare professionals including children's cardiac nurses with the knowledge required to use the Congenital Heart Assessment Tool (CHAT) to teach parents how to monitor their infant at home. The project involved developing, implementing and evaluating an e-learning resource that included simulated scenarios captured on video. An online survey showed that users perceived the e-learning resource as having a positive effect on their understanding of complex CHD and their practice of preparing parents for discharge and home monitoring.

Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with considerable genetic heterogeneity. The disorder is clinically diagnosed based on DSM-5 criteria, featuring deficits in social communication and interaction, along with restricted and repetitive behaviours. Here, we performed whole-genome sequencing (WGS) on four individuals with ASD from two multiplex families (MPX), where more than one individual is affected, to identify potential single nucleotide variants (SNVs) and structural variants (SVs) in coding and non-coding regions. A rigorous bioinformatics pipeline was employed for variant detection, followed by segregation analysis. Our investigation revealed an unreported splicing variant in the DYRK1A gene (c.-77 + 2T > C; IVS1 + 2T > C; NM_001396.5), in heterozygote form in two affected children in one of the families (family B), which was absent in the healthy parents and siblings. This finding suggests the presence of gonadal mosaicism in one of the parents, representing the first documented instance of such inheritance for a variant in the DYRK1A gene associated with ASD. Furthermore, we identified a 50 bp deletion in intron 9 of the DLG2 gene in two affected patients from the same family, confirmed by PCR and Sanger sequencing. In Family A, we identified potential candidate variants associated with ASD shared by the two patients. These findings enhance our understanding of the genetic landscape of ASD, particularly in MPX families, and highlight the utility of WGS in uncovering novel genetic contributions to neurodevelopmental disorders.

A qualitative study of maternal and paternal parenting knowledge and practices in rural Mozambique.

BACKGROUND: Providing nurturing care for young children is essential for promoting early child development (ECD). However, there is limited knowledge about how mothers and fathers across diverse contexts in sub-Saharan Africa care for their children and from whom they receive guidance and support in their caregiving roles. We aimed to examine caregivers' nurturing care practices and sources of parenting knowledge in rural Mozambique. METHODS: This is a secondary analysis using data from a qualitative evaluation of a pilot intervention to improve nurturing care for early child health and development within existing health systems. The evaluation was conducted across three primary care health facilities and their catchment areas in Nampula province, Mozambique. For this study, we analyzed data from in-depth interviews conducted with 36 caregivers (32 mothers and 4 fathers) to investigate mothers' and fathers' daily caregiving experiences. Data were analyzed using thematic content analysis. RESULTS: Caregivers described various caregiving roles relating to general caregiving of young children (e.g., feeding, bathing, caring for child's health) and stimulation (e.g., play and communication) activities. Mothers more commonly engaged in general caregiving activities than fathers, whereas both mothers and fathers engaged in stimulation activities. Other family members, including siblings, grandparents, and aunts/uncles, were also actively engaged in general caregiving activities. With respect to sources of parenting knowledge, caregivers received parenting guidance and support primarily from their own mothers/parents and facility-based health providers. CONCLUSIONS: These findings highlight the importance of adopting a holistic approach involving caregivers and their context and reveal potential strategies to promote caregiving and ECD in rural Mozambique and similar contexts.

Design of Digital Mental Health Platforms for Family Member Cocompletion: Scoping Review.

BACKGROUND: The COVID-19 pandemic placed an additional mental health burden on individuals and families, resulting in widespread service access problems. Digital mental health interventions suggest promise for improved accessibility. Recent reviews have shown emerging evidence for individual use and early evidence for multiusers. However, attrition rates remain high for digital mental health interventions, and additional complexities exist when engaging multiple family members together. OBJECTIVE: As such, this scoping review aims to detail the reported evidence for digital mental health interventions designed for family use with a focus on the build and design characteristics that promote accessibility and engagement and enable cocompletion by families. METHODS: A systematic literature search of MEDLINE, Embase, PsycINFO, Web of Science, and CINAHL databases was conducted for articles published in the English language from January 2002 to March 2024. Eligible records included empirical studies of digital platforms containing some elements designed for cocompletion by related people as well as some components intended to be completed without therapist engagement. Platforms were included in cases in which clinical evidence had been documented. RESULTS: Of the 9527 papers reviewed, 85 (0.89%) met the eligibility criteria. A total of 24 unique platforms designed for co-use by related parties were identified. Relationships between participants included couples, parent-child dyads, family caregiver-care recipient dyads, and families. Common platform features included the delivery of content via structured interventions with no to minimal tailoring or personalization offered. Some interventions provided live contact with therapists. User engagement indicators and findings varied and included user experience, satisfaction, completion rates, and feasibility. Our findings are more remarkable for what was absent in the literature than what was present. Contrary to expectations, few studies reported any design and build characteristics that enabled coparticipation. No studies reported on platform features for enabling cocompletion or considerations for ensuring individual privacy and safety. None examined platform build or design characteristics as moderators of intervention effect, and none offered a formative evaluation of the platform itself. CONCLUSIONS: In this early era of digital mental health platform design, this novel review demonstrates a striking absence of information about design elements associated with the successful engagement of multiple related users in any aspect of a therapeutic process. There remains a large gap in the literature detailing and evaluating platform design, highlighting a significant opportunity for future cross-disciplinary research. This review details the incentive for undertaking such research; suggests design considerations when building digital mental health platforms for use by families; and offers recommendations for future development, including platform co-design and formative evaluation.

Research with and Inclusive of Children in Immigrant Families: A Narrative Review of Methods and Approaches.

One in four children in the US grow up in immigrant families, and 55% of children in immigrant families have a parent who speaks and understands English less than "very well". While the number of research studies that is focused on children in immigrant families (CIF) has increased, CIF particularly those that communicate in a language other than English (LOE) are frequently excluded from research. We reviewed studies including "children in immigrant families and the United States" in PubMed from 2017-2023, and categorized them as qualitative, quantitative, mixed-methods or community engaged research. We review observations and offer recommendations for research to promote the health and well-being of children in immigrant families including: using strengths-based frameworks; prioritizing the inclusion of families who speak languages other than English; amending reporting standards for qualitative studies to include guidance on reporting methods for projects in which research teams and study participants speak different languages from one another; and incorporating methods to identify people who have experienced migration in large national surveys and cohort studies. We recommend research with and inclusive of CIF to consider additional areas for growth in cross-sector collaborations, interventions and clinical trials, and training and support for investigators.

Approaches to nutrition and feeding in congenital diaphragmatic hernia.

In patients with congenital diaphragmatic hernia1, nutrition can represent a challenge both in the short and long term. Its failure to resolve can have a significant impact on multiple aspects of the lives of patients with congenital diaphragmatic hernia (CDH), ranging from lung function to neurodevelopment. In this review, we will describe the causes of nutritional problems in patients with CDH, their consequences, and possible strategies to address them.

Coparenting Profiles and Children's Socioemotional Outcomes in Unmarried Parents with Low-Income.

Objective: This study aimed to examine patterns of mother-father coparenting relationship quality and their associations with child empathy, emotional insecurity, and behavior problems in families with low income. Background: Given the growing number of nonmarital births and the high risk of relationship dissolution among cohabiting couples living with low income, it is important to examine the coparenting relationships among racially diverse unmarried couples from low-income contexts. To date, little research has assessed patterns of coparenting relationships and their associations with child socioemotional outcomes among this population. Method: Participants were 4,266 unmarried couples and their preschool-aged children from the Building Strong Families study. Latent profile analysis was conducted. Results: Latent profile analysis of survey data from mothers and fathers revealed four coparenting patterns: Profile 1: low quality, more negative maternal coparenting perceptions (7.2%); Profile 2: moderate-high quality, high congruence, slightly more negative paternal coparenting perceptions (25.2%); Profile 3: low congruence, severely more negative maternal coparenting perceptions (11.8%); and Profile 4: mutual high-quality coparenting (55.8%). Conclusion: Children of parents with the mutual high-quality coparenting profile had the most positive outcomes according to maternal reports of child socioemotional development. Highly congruent and positive perceptions of the other parent as a coparent were found to be significant promotive factors for positive child socioemotional development. Implications: Family strengthening policies and programs for unmarried couples with low income should target and support the development of mutually satisfying, high-quality coparenting relationships, with the ultimate goal to improve developmental outcomes for young children in such families.

Risk and Protective Factors of Probable Binge Eating Disorder in US Military Spouses: Findings From the Millennium Cohort Family Study.

Binge eating disorder (BED) is a public health concern that has received little research attention in military families. Further research is needed to identify risk and protective factors to inform intervention and prevention efforts. This longitudinal study examined predictors of probable BED in a sample of U.S. military spouses (N = 5,269). Data were derived from the Millennium Cohort Family Study, which included baseline assessments of risk and protective factors and a follow-up assessment of probable BED approximately 3 years later. Results of a multivariable logistic regression model indicated that spouses with probable posttraumatic stress disorder, adverse childhood experiences, or who were former smokers had increased risk of probable BED at follow-up. Spouses whose service member had a deployment with combat exposure, or had not deployed, had higher risk of probable BED than spouses whose service member deployed without combat exposure. Age >34 years was the only protective factor to emerge as significant in the adjusted model. Results highlighted the need for interventions to improve psychoeducation and coping skills in military spouses, which may mitigate BED symptoms stemming from military-related stressors (e.g., combat deployment) or prior trauma, especially once maladaptive coping mechanisms (e.g., smoking) have ceased.

Development and Evaluation of a Community Advisory Board for Family Violence.

Although intimate partner violence (IPV) is an important risk factor for child physical abuse, most IPV-exposed children are not evaluated for abusive injuries. A Community Advisory Board (CAB) was formed to (a) optimize a program to evaluate IPV-exposed children for abusive injuries and (b) inform research methods to engage IPV victims and their children. The objectives of this study were to implement and to evaluate the family violence CAB. Following best practices on CAB formation, we recruited local stakeholders with key roles as service providers, community leaders, and knowledge experts in IPV, child abuse, and emergency care. Fourteen members met bimonthly to develop a family-centered intervention and to inform research and advocacy activities. A shared memorandum of understanding outlined goals and objectives. One year after the CAB's implementation, a research assistant interviewed CAB members to understand their experiences, perceived benefits of participation, and desired improvements. Eleven CAB members, including an IPV survivor, participated. Emerging categories included (a) motivations to join the CAB (victim advocacy), (b) benefits of participation (development of relationships among members and increased acceptability of research methods), (c) facilitators of sustainability (program adaptability and development of trust), and (d) desired improvements (case-based follow-up). The CAB was successfully implemented and facilitated the development of collaborative relationships among stakeholders with key roles in IPV and child abuse. The CAB led to community member-proposed changes in research activities and clinical care for victims of IPV.

Survey of rehabilitation approaches and plans for individuals with dravet syndrome (RAPIDS) in Italy: Current practices and strategies to progress.

Dravet syndrome, a developmental and epileptic encephalopathy, manifests with varying degrees of cognitive and communication impairment, postural and movement disorders (such as ataxia, coordination issues, and crouch gait) and behavioural challenges (including attention deficit/hyperactivity, oppositional/defiant behaviour, and autistic traits). Rehabilitation is a valuable tool for most patients, typically prescribed to address the most pressing issues. However, current practices often fall short in proactively preventing and treating known challenges associated with the syndrome, as indicated by the latest literature, at different life stages. Furthermore, there is a notable lack of evidence regarding treatment types and efficacy specific to people with Dravet Syndrome. Conducted in collaboration with one of the Italian Patient associations, this national survey provides a comprehensive view of the rehabilitation landscape in Dravet Syndrome, as perceived by caregivers. It outlines the types of treatments for 51 patients, based on age and relevant clinical features. The findings reveal a heterogenous rehabilitation approach, only partly tailored to the presence of specific comorbidities, and underline numerous unmet needs. Compared to the past there is indirect evidence that more patients are offered early rehabilitation. Nonetheless, while nowadays speech therapy and neuropsychomotor therapy are nearly universal for children up to the age of 10, some begin physiotherapy and psychotherapy thereafter, with a majority discontinuing treatments. Therefore, families of adolescent and adult patients often face a lack of comprehensive support, predominantly offered when epilepsy is more challenging to control affecting rehabilitation adherence and effectiveness. Finally, a negligible minority is offered treatments such as neurovisual training, augmentative and alternative communication, and occupational therapy. Many of these considerations could apply to other developmental and epileptic encephalopathy with lifelong disability. This survey calls for more data collection on this important topic for more efficient allocation of rehabilitation resources.