An analysis of interagency collaboration: Lessons learned from Colorado's early intervention program.

INTRODUCTION: The purpose of this study was to describe interagency collaboration in Part C Early Intervention (EI) programs. METHODS: Between 18 April and 9 May 2022, 48 EI service coordinators (SCs) from 14 programs in one state completed adapted versions of the Interagency Collaboration Activities Scale (IACAS) and Relational Coordination Survey (RCS). Assessing perceptions of shared structures (IACAS) and coordination quality (RCS), these combined measures summarized interagency collaboration with 11 organizations. Mean (SD) survey responses were estimated and ranked. RESULTS: Sample SCs represent a breadth of professional disciples and vary substantially in their current and desired collaborations. The quantity of SCs collaborating with organizations ranged from 0% to 98%. Nearly all (98%) reported collaborating with the school districts, few (15%) reported collaborating with insurance, and none reported collaborating with Supplemental Nutrition Assistance Program or Special Supplemental Nutrition Program for Women, Infants, and Children. The majority of SCs expressed desire to increase their collaborations with most of the listed organizations. The perceived quality of collaborations varied substantially at both individual and organizational levels. When comparing SC perceptions of shared structures and coordination quality, SCs reported more favourable collaborations with school districts (IACAS rank: first and RCS rank: first) and less favourable collaborations with insurance (IACAS rank: ninth and RCS rank: seventh). Some organizations rankings varied across both scales, including pediatric primary care (IACAS rank: third and RCS rank: eighth) and hospitals (IACAS rank: sixth and RCS rank: second). Overall, SCs reported low perceived existence of shared structures while coordination quality varied by organization. Opportunities for collaborative growth were identified. DISCUSSION: Despite its importance and required implementation in EI, perceptions of interagency collaboration varied substantially within and between EI programs. There is a suggested need to increase the quantity of SCs that collaborate and identified opportunities to increase the quality of collaborations that already exist.

Implementing an Electronic Patient-Reported Outcome and Decision Support Tool in Early Intervention.

OBJECTIVE: The aim of the study is to identify and prioritize early intervention (EI) stakeholders' perspectives of supports and barriers to implementing the Young Children's Participation and Environment Measure (YC-PEM), an electronic patient-reported outcome (e-PRO) tool, for scaling its implementation across multiple local and state EI programs. METHODS: An explanatory sequential (quan > QUAL) mixed-methods study was conducted with EI families (n = 6), service coordinators (n = 9), and program leadership (n = 7). Semi-structured interviews and focus groups were used to share select quantitative pragmatic trial results (e.g., percentages for perceived helpfulness of implementation strategies) and elicit stakeholder perspectives to contextualize these results. Three study staff deductively coded transcripts to constructs in the Consolidated Framework for Implementation Research (CFIR). Data within CFIR constructs were inductively analyzed to generate themes that were rated by national early childhood advisors for their relevance to longer term implementation. RESULTS: All three stakeholder groups (i.e., families, service coordinators, program leadership) identified thematic supports and barriers across multiple constructs within each of four CFIR domains: (1) Six themes for "intervention characteristics," (2) Six themes for "process," (3) three themes for "inner setting," and (4) four themes for "outer setting." For example, all stakeholder groups described the value of the YC-PEM e-PRO in forging connections and eliciting meaningful information about family priorities for efficient service plan development ("intervention characteristics"). Stakeholders prioritized reaching families with diverse linguistic preferences and user navigation needs, further tailoring its interface with automated data capture and exchange processes ("process"); and fostering a positive implementation climate ("inner setting"). Service coordinators and program leadership further articulated the value of YC-PEM e-PRO results for improving EI access ("outer setting"). CONCLUSION: Results demonstrate the YC-PEM e-PRO is an evidence-based intervention that is viable for implementation. Optimizations to its interface are needed before undertaking hybrid type-2 and 3 multisite trials to test these implementation strategies across state and local EI programs with electronic data capture capabilities and diverse levels of organizational readiness and resources for implementation.

Inpatient Physical Therapy After Orthopedic Lower Extremity Surgery in Children With Cerebral Palsy.

PURPOSE: To characterize and examine the variability in receipt of inpatient (IP) physical therapy after lower extremity (LE) orthopedic surgery for individuals with cerebral palsy (CP) across hospital-level (region, bed size) and individual characteristics (gender, age, race/ethnicity, insurance type, technology dependency, and surgical burden). METHODS: We retrospectively analyzed physical therapy billing data of children with CP who had LE orthopedic surgery from October 1, 2015, through September 30, 2017, from the Pediatric Health Information Services (PHIS) database. RESULTS: Seventy-five percent of individuals received IP physical therapy during the hospital stay. Individuals from the South and West and those who were technology dependent were less likely to receive IP therapy. Those at large hospitals, aged 11 to 14 years, and with a high surgical burden were more likely to receive therapy. CONCLUSIONS: Results provide a starting point for future research on the discrepancies of acute physical therapy services in children diagnosed with CP. (Supplemental digital content video abstract available at: http://links.lww.com/PPT/A420).

Caregiver Health Beliefs Associated with Use of Pediatric Therapy Services Among Children with Special Health Care Needs.

OBJECTIVES: (1) Explore the relationship between various sociodemographic factors and caregiver health beliefs (CHBs), and (2) examine whether these relationships were associated with the use of pediatric therapy services. METHODS: We conducted a cross-sectional, secondary data analysis using the 2011 Survey of Pathways Diagnosis and Services dataset. 4,032 children ages 6-17 years had complete data on caregiver health beliefs and pediatric therapy use. Select CHBs reflected whether caregivers believe (1) problems related to their child's condition can be prevented or decreased with treatment, (2) they have the power to change their child's condition, and (3) their child's condition is a mystery. Pediatric therapy included physical therapy, occupational therapy, and speech therapy. We performed multivariate logistic regression to test the associations between CHBs and select child and family characteristics (Aim 1) and use of pediatric therapy services (Aim 2). RESULTS: Caregivers with lower educational attainment were more likely to believe their child's condition was a mystery and less likely to believe they had the power to change their child's condition. Use of pediatric therapy services tended to be lower among children whose caregivers believed they had the power to change their child's condition and higher among children whose caregivers believed their child's condition was a mystery. CONCLUSIONS FOR PRACTICE: Our findings add to existing research that suggests CHBs differ across groups of caregivers. This, combined with the recognition that CHBs also likely differ from providers, underscores the importance of eliciting caregiver beliefs, values, and priorities to help ensure the provision of truly family-centered care. SIGNIFICANCE: Pediatric therapy services support and optimize child development. Significant service use disparities exist, however, with children representing various marginalized groups being less likely to use pediatric therapy services. Little is known about the mechanisms underlying such disparities. We sought to explore the relationship between family sociodemographic factors, caregiver health beliefs, and pediatric therapy use. Our findings suggest that caregivers with fewer socioeconomic resources expressed beliefs that are consistent with limited knowledge and agency regarding their child's condition. Thus, providers must work to engage families in conversations about their child's development, elicit their knowledge and beliefs, and identify social or financial barriers to care.

Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.

Myasthenia gravis is a chronic autoimmune disease characterized by autoantibody-mediated interference of signal transmission across the neuromuscular junction. We performed a genome-wide association study (GWAS) involving 1,873 patients diagnosed with acetylcholine receptor antibody-positive myasthenia gravis and 36,370 healthy individuals to identify disease-associated genetic risk loci. Replication of the discovered loci was attempted in an independent cohort from the UK Biobank. We also performed a transcriptome-wide association study (TWAS) using expression data from skeletal muscle, whole blood, and tibial nerve to test the effects of disease-associated polymorphisms on gene expression. We discovered two signals in the genes encoding acetylcholine receptor subunits that are the most common antigenic target of the autoantibodies: a GWAS signal within the cholinergic receptor nicotinic alpha 1 subunit (CHRNA1) gene and a TWAS association with the cholinergic receptor nicotinic beta 1 subunit (CHRNB1) gene in normal skeletal muscle. Two other loci were discovered on 10p14 and 11q21, and the previous association signals at PTPN22, HLA-DQA1/HLA-B, and TNFRSF11A were confirmed. Subgroup analyses demonstrate that early- and late-onset cases have different genetic risk factors. Genetic correlation analysis confirmed a genetic link between myasthenia gravis and other autoimmune diseases, such as hypothyroidism, rheumatoid arthritis, multiple sclerosis, and type 1 diabetes. Finally, we applied Priority Index analysis to identify potentially druggable genes/proteins and pathways. This study provides insight into the genetic architecture underlying myasthenia gravis and demonstrates that genetic factors within the loci encoding acetylcholine receptor subunits contribute to its pathogenesis.

Effectiveness and scalability of an electronic patient-reported outcome measure and decision support tool for family-centred and participation-focused early intervention: PROSPECT hybrid type 1 trial protocol.

INTRODUCTION: Early intervention (EI) endorses family-centred and participation-focused services, but there remain insufficient options for systematically enacting this service approach. The Young Children's Participation and Environment Measure electronic patient-reported outcome (YC-PEM e-PRO) is an evidence-based measure for caregivers that enables family-centred services in EI. The Parent-Reported Outcomes for Strengthening Partnership within the Early Intervention Care Team (PROSPECT) is a community-based pragmatic trial examining the effectiveness of implementing the YC-PEM e-PRO measure and decision support tool as an option for use within routine EI care, on service quality and child outcomes (aim 1). Following trial completion, we will characterise stakeholder perspectives of facilitators and barriers to its implementation across multiple EI programmes (aim 2). METHODS AND ANALYSIS: This study employs a hybrid type 1 effectiveness-implementation study design. For aim 1, we aim to enrol 223 caregivers of children with or at risk for developmental disabilities or delays aged 0-3 years old that have accessed EI services for three or more months from one EI programme in the Denver Metro catchment of Colorado. Participants will be invited to enrol for 12 months, beginning at the time of their child's annual evaluation of progress. Participants will be randomised using a cluster-randomised design at the EI service coordinator level. Both groups will complete baseline testing and follow-up assessment at 1, 6 and 12 months. A generalised linear mixed model will be fitted for each outcome of interest, with group, time and their interactions as primary fixed effects, and adjusting for child age and condition severity as secondary fixed effects. For aim 2, we will conduct focus groups with EI stakeholders (families in the intervention group, service coordinators and other service providers in the EI programme, and programme leadership) which will be analysed thematically to explain aim 1 results and identify supports and remaining barriers to its broader implementation in multiple EI programmes. ETHICS AND DISSEMINATION: This study has been approved by the institutional review boards at the University of Illinois at Chicago (2020-0555) and University of Colorado (20-2380). An active dissemination plan will ensure that findings have maximum reach for research and practice. TRIAL REGISTRATION NUMBER: NCT04562038.

Creation of a Community-Driven Decision Support Tool for Caregivers of Children With Developmental Concerns.

PURPOSE: Despite increasing standardization of developmental screening and referral processes, significant early intervention service disparities exist. The aims of this article are to: (a) describe methods used to develop a decision support tool for caregivers of children with developmental concerns, (b) summarize key aspects of the tool, and (c) share preliminary results regarding the tool's acceptability and usability among key stakeholders. METHOD: Content and design of the decision support tool was guided by a systematic process outlined by the International Patient Decision Aid Standards (IPDAS) Collaborative. Three focus group interviews were conducted with caregivers (n = 7), early childhood professionals (n = 28), and a mix of caregivers and professionals (N = 20) to assess caregiver decisional needs. In accordance with the IPDAS, a prototype of the decision support tool was iteratively cocreated by a subset of caregivers (n = 7) and early child health professionals (n = 5). RESULTS: The decision support tool leverages images and plain language text to guide caregivers and professionals along key steps of the early identification to service use pathway. Participants identified four themes central to shared decision making: trust, cultural humility and respect, strength-based conversations, and information-sharing. End-users found the tool to be acceptable and useful. CONCLUSIONS: The decision support tool described offers an individualized approach for exploring beliefs about child development and developmental delay, considering service options within the context of the family's values, priorities, and preferences, and outlining next steps. Additional research regarding the tool's effectiveness in optimizing shared decision-making and reducing service use disparities is warranted.

The "seeing place": Teaching nurse practitioners about cultural difference through dramatization.

BACKGROUND: The use of dramatization in health professional education is one method to teach students about implicit bias and cultural difference, yet it has not been widely studied among graduate students of nursing. OBJECTIVES: The purpose of this article is to present a qualitative analysis of data regarding doctoral nursing students' responses to a new dramatic exercise as part of a funded project to facilitate cultural learning in a diversity-enhanced nursing curriculum. DESIGN: We employed a cross-sectional posttest design with qualitative data collection and hermeneutic analysis. Setting and. PARTICIPANTS: Subjects were students from two cohorts in a Doctor of Nursing Practice program at a large metropolitan university in the Midwestern United States (n = 136). METHODS: Following a dramatic exercise facilitated by a local theatre group, students debriefed and provided feedback via paper-based surveys collected by their instructor. The research team reviewed and analyzed student feedback with an eye toward new learning or insights around cultural difference. RESULTS: Students rated the dramatic exercise highly. Their written feedback provided for a deeper exploration of how they internalized messages about cultural difference. These experiences were thematized in the following way: (a) Awareness is facilitated through integrating nonverbal (kinesthetic) and verbal encounters, (b) Hesitancy to participate in unfamiliar activities creates tension, and (c) Safety is a foundational aspect of learning sensitive issues. CONCLUSION: Dramatization of culturally sensitive scenarios for advanced practice nurses can lead to new understanding. Educators who understand the need for thoughtful introduction of dramatization experiences can better prepare nurses for interaction in cross-cultural clinical environments.

The effects of the Newborn Behavioral Observations (NBO) system in early intervention: A multisite randomized controlled trial.

The purpose of this pilot study was to evaluate the effect of an infant mental health intervention, the Newborn Behavioral Observations system (NBO), versus usual care (UC) on infant neurodevelopment and maternal depressive symptoms in early intervention (EI). This multisite randomized trial enrolled newborns into the NBO (n = 16) or UC group (n = 22) and followed them for 6 months. Outcome measures included the Battelle Developmental Inventory (BDI-2), Bayley Scales of Infants Development (BSID-III), and Center for Epidemiologic Studies Depression Scale (CES-D). The CES-D and BSID-III were collected at 3- and 6-months post EI entry and the BDI-2 was collected at EI entry and 6-months post-EI entry. We estimated group differences [95% CI], adjusting for program characteristics. At 6 months, the NBO group had greater gains in Communication (b = 1.0 [0.2, 1.8]), Self-Care (b = 2.0 [0.1, 3.9]), Perception and Concepts (b = 2.0 [0.4, 3.6]), and Attention and Memory (b = 3.0 [0.4, 6.0]) than the UC group. The NBO group also had greater decline in maternal postnatal depressive symptoms (b = -2.0 [-3.7, -0.3]) than the UC group. Infants receiving the NBO infant mental health intervention had greater gains in cognitive and adaptive functions at 6 months than infants receiving UC. Caregivers receiving NBO care had greater improvements in maternal depressive symptoms than caregivers receiving UC.

El propósito de este estudio piloto fue evaluar el efecto que una intervención de salud mental infantil, el sistema de Observación de Comportamiento del Recién Nacido (NBO), versus el cuidado usual (UC), tiene en el desarrollo neurológico del infante y los síntomas de depresión materna en la Temprana Intervención (EI). Este ensayo al azar de múltiples lugares inscribió a recién nacidos en el NBO (n = 16) o en el grupo UC (n = 22) y les dio seguimiento por 6 meses. Las medidas de los resultados incluyeron el Inventario Battelle del Desarrollo (BDI-2), las Escalas Bayley del Desarrollo de Infantes (BSID-III), y la Escala de Depresión del Centro para Estudios Epidemiológicos (CES-D). El CES-D y BSID-III fueron implementados a los 3 y 6 meses posteriores a la entrada en EI y el BDI-2 fue implementado al momento de entrar en EI y a los 6 meses posteriores a dicha entrada. Estimamos las diferencias de grupos [95% CI], con ajustes en cuanto a características del programa. A los 6 meses, el grupo NBO presentaba mayores logros en Comunicación (b = 1.0 [0.2, 1.8]), Autocuidado (b = 2.0 [0.1, 3.9]), Percepción y Conceptos (b = 2.0 [0.4, 3.6]) y Atención y Memoria (b = 3.0 [0.4, 6.0]) que el grupo de UC. El grupo NBO también tuvo una mayor baja en síntomas maternos depresivos postnatales (b = 2.0 [-3.7, -0.3]) que el grupo UC. Los infantes que recibían la intervención NBO tuvieron mayores logros en la función cognitiva y adaptiva a los 6 meses que los infantes del grupo UC. Aquellos cuidadores que recibían el cuidado NBO presentaron mejoras significativamente mayores en síntomas depresivos maternos que los cuidadores del grupo UC.

Le but de cette étude pilote était d'évaluer l'effet d'une intervention en santé mentale du nourrisson, le système d'Observation Comportementale du Nourrisson (en anglais, Newborn Behavioral Observation system, soit NBO utilisé ici dans ce texte), par rapport aux soins ordinaires (ici abbrégé SI) sur le neurodéveloppement du nourrisson et les symptômes dépressifs maternels dans l'Intervention Précoce (IP). Cet essai randomisé effectué sur plusieurs sites a concerné des nouveaux-nés dans le NBO (n = 16) ou le groupe SI (n = 22) et les a suivis pendant 6 mois. Les mesures de résultat ont inclus l'Inventaire du Développement de Battelle (BDI-2), les Echelles Bayley de Développement des Nourrissons (BSID-III) et les Echelles de Dépression du Centre d'Etudes Epidémiologiques (CES-D). Les CES-D et BSID-III ont été faites à 3 et à 6 mois après l'entrée en IP et la BDI-2 a été faite à l'entrée en IP et à 6 mois après l'entrée en IP. Nous avons estimé les différences de groupe [95% CI), en faisant des ajustements pour les caractéristiques du programme. A six mois, le groupe NBO avait fait de plus grands gains en Communication (b = 1,0 [0,2, 1,8]), Autosoin (b = 2,0 [0,1, 3,9]), Perception & Concepts (b = 2,0 [0,4, 3,6]), et Attention & Mémoire (b = 3,0 [0,4, 6,0]) que le groupe SI. Le groupe NBO a également vu le plus grand déclin dans les symptômes dépressifs postnatals maternels (b = -2,0 [-3,7, -0,3]) par rapport au groupe SI. Les nourrissons recevant l'intervention NBO ont fait preuve de plus grands gains dans la fonction cognitive et adaptive à 6 mois, par rapport aux nourrissons SI. Les personnes prenant soin des enfants et recevant le soin NBO ont témoigné d'améliorations plus importantes dans les symptômes dépressifs maternels que le groupe SI.

Child characteristics and early intervention referral and receipt of services: a retrospective cohort study.

BACKGROUND: Early Intervention (EI) is a federally mandated, state-administered system of care for children with developmental delays and disabilities under the age of three. Gaps exist in the process of accessing EI through pediatric primary care, and low rates of EI access are well documented and disproportionately affect poor and minority children. The aims of this paper are to examine child characteristics associated with gaps in EI (1) referral, (2) access and (3) service use. To our knowledge, this is the first study to leverage linked safety net health system pediatric primary care and EI records data to follow EI-referred children longitudinally to understand EI service use gaps from EI referral to EI service utilization. METHODS: In a retrospective cohort design (14,710 children with developmental disability or delay), we linked pediatric primary care records between a large, integrated safety net health system in metro Denver and its corresponding EI program (2014-2016). Using adjusted marginal effects [ME, (95% CI)], we estimated gaps in EI referral, access, and service type (i.e., physical [PT], occupational [OT], speech therapy [ST] and developmental intervention [DI]). Analyses accounted for child characteristics including socio-demographics, diagnosis, condition severity, and baseline function. RESULTS: Only 18.7% of EI-eligible children (N = 2726) received a referral; 26% of those (N = 722) received services for a net enrollment rate of 5% among EI-eligible children. Having the most severe developmental condition was positively associated with EI referral [ME = 0.334 [0.249, 0.420]) and Individualized Family Services Plan (IFSP) receipt [ME = 0.156 [0.088, 0.223]). Children less likely to be EI-referred were Black, non-Hispanic (BNH) [ME = -0.029 (- 0.054, - 0.004)] and had a diagnosed condition ([ME = - 0.046 (- 0.087, - 0.005)]. Children with a diagnosis and those with higher income were more likely to receive PT or OT. Higher baseline cognitive and adaptive skills were associated with lower likelihood of PT [ME = -0.029 (- 0.054, - 0.004)], OT [ME = -0.029 (- 0.054, - 0.004)], and ST [ME = -0.029 (- 0.054, - 0.004)]. CONCLUSIONS: We identified and characterized gaps in EI referral, access, and service use in an urban safety-net population of children with high rates of developmental delay. Interventions are needed to improve integrated systems of care affecting primary care and EI processes and coordination.

Community-Engaged Research to Translate Developmental Screening and Referral Processes into Locally-Relevant, Family-Centered Language.

OBJECTIVES: This project employed Boot Camp Translation (BCT) to engage community stakeholders in the translation of developmental screening guidelines and early intervention service recommendations into locally-relevant, family-centered messaging. METHODS: A subject matter expert provided an overview of development, developmental delay, developmental screening and referral processes, and early intervention to BCT participants. BCT participants and facilitators met in-person and via teleconferencing over the course of 12 months to co-develop locally-relevant messages and materials. RESULTS: BCT participants focused on defining development, developmental delay, and early intervention, rather than describing developmental screening and referral processes. They proposed several dissemination strategies, and focused much of their effort on the creation of an informational booklet designed to educate and empower caregivers. CONCLUSIONS FOR PRACTICE: BCT is a useful approach for translating developmental screening guidelines and early intervention recommendations into locally-relevant, family-centered messaging.

Family-centred care in early intervention: Examining caregiver perceptions of family-centred care and early intervention service use intensity.

BACKGROUND: Family-centred care (FCC) is an approach to paediatric rehabilitation service delivery endorsing shared decision making and effective communication with families. There is great need to understand how early intervention (EI) programmes implement these processes, how EI caregivers perceive them, and how they relate to EI service use. Therefore, the purpose of this study is to examine (a) parent and provider perceptions about EI FCC processes and (b) the association between FCC perceptions and EI service intensity. METHODS: In this cross-sectional study, parent perceptions of EI FCC were measured using the electronically administered Measures of Processes of Care (MPOC-56 and MPOC-SP; using 7-point scales). Participants included EI parents (n = 29) and providers (n = 9) from one urban EI programme (1/1/18-6/1/18). We linked survey responses with child characteristics and service use ascertained through EI records. We estimated parent-provider MPOC score correlations and the association between EI service intensity (hr/month) and parent MPOC scores using adjusted linear regression accounting for child characteristics. RESULTS: Parents (M = 4.2, SD = 1.1) and providers (M = 5.8, SD = 1.3) reported low involvement related to general information exchange. Parent and provider subscale scores were not correlated except that parent-reported receipt of specific information was inversely associated with provider-reported provision of general information (r = -0.4, P < .05). In adjusted models, parent perceptions related to respectful and supportive (b = 1.57, SE = 0.56) and enabling (b = 1.42, SE = 0.67) care were positively associated with EI intensity, whereas specific information exchange and general information exchange were not associated with intensity. CONCLUSION: We found that EI parents and providers reported high levels of investment in the family centredness of their EI care, with the exception of information sharing. Greater EI service intensity was associated with higher perception of involvement with some metrics of family centredness.

Early Intervention Service Intensity and Change in Children's Functional Capabilities.

OBJECTIVE: To estimate correlates of early intervention (EI) service dosage and gains in children's functional capabilities from EI entry and discharge. DESIGN: Retrospective cohort study. SETTING: Secondary analyses of a subset of data (N=1005) collected from an EI administrative database on children discharged from a large, urban EI program between October 1, 2014 and September 30, 2016. PARTICIPANTS: Children who were EI eligible due to developmental delay, had received an EI care plan and at least 1 billable EI service, and had outcomes data at EI entry and exit (N=1005). Measured child characteristics included age (49.0% 12-24mo; n=492), sex (36.0% female; n=362), number of developmental delays (76.1% had 1 developmental delay; n=765), and number of EI services received (78.5% received multiple; n=789). INTERVENTION: Not applicable. MAIN OUTCOME MEASURES: Outcomes were EI service intensity (hours per month) and change in functional capabilities as measured via the state-mandated Child Outcomes Summary (COS). Adjusted quantile median regression estimated EI intensity. Adjusted linear regression estimated change in function for social-emotional, cognitive, and adaptive domains of the COS. Measures of children's developmental delay severity, age at EI entry, race and ethnicity, sex, and language. RESULTS: Children older than 24 months old experienced significantly higher EI service intensity (b=0.40; 95% confidence interval, 0.18-0.63). Child age and EI service intensity were significantly linked to gains in social and cognitive COS score changes from EI entry to exit. CONCLUSIONS: Older children receive a higher intensity of EI services. EI service intensity and age were linked with positive changes in functional gains.

International Service-Learning for Nurse Practitioner Students: Enhancing Clinical Practice Skills and Cultural Competence.

BACKGROUND: The purpose of this project was to determine whether an international service-learning nurse-led clinic was a beneficial experience for nurse practitioner (NP) students in improving diagnostic and cultural confidence, skills acquisition, and cultural competence during a clinical practicum. METHOD: The sample consisted of 10 Doctor of Nursing Practice (DNP) students in various NP tracks during an international service-learning experience in Guatemala. A Likert survey was used for student evaluation of experience. An analytic grading rubric measured clinical and cultural performance. RESULTS: Practice competency scores were high overall (M = 3.36; SD = 0.664). All students increased their confidence in diagnostic abilities (M = 4.89; SD = 0.422) and in caring for a culturally diverse population (M = 4.89; SD = 0.333). CONCLUSION: An international service-learning nurse-led clinic used to complement clinical practice hours as a beneficial experience in assisting NP students in developing diagnostic and cultural confidence. [J Nurs Educ. 2019;58(9):548-551.].

Social and Functional Characteristics of Receipt and Service Use Intensity of Core Early Intervention Services.

OBJECTIVE: Describe children's diagnostic, social, and functional characteristics associated with the use of core early intervention (EI) services. METHODS: The sample included infants and toddlers (N = 2045) discharged from an urban EI program (2014-2016). Adjusted logit models estimated the marginal effects and 95% confidence intervals (CIs) of receipt of any of the 4 core EI services, controlling for the child's developmental condition type, race and ethnicity, primary language, sex, insurance type, age at referral, and functional performance at EI entry. Adjusted median regression estimated EI core service intensity controlling for child characteristics. RESULTS: The median per-child EI service intensity was less than 3 h/mo (median, 2.7; interquartile range, 2.1-3.5). Children whose primary language was English were 6% more likely to receive occupational therapy (marginal effect = 0.063; 95% CI, 0.010-0.115). Compared to infants, 1- to 2-year-old children were less likely to receive physical therapy and occupational therapy but more likely to receive speech therapy. Compared to infants, 1-year-olds received more intensive speech therapy (ß = 0.42; 95% CI, 0.10-0.70), and 2-year-olds received less intensive occupational therapy (ß = -0.70; 95% CI, -1.35 to -0.10). Children's functional performance at EI entry was significantly associated with the receipt and intensity of EI services. CONCLUSIONS: Many EI-enrolled children received low-intensity services, a result that was associated with the primary language of the caregiver and the child's age and functional status. Results suggest the need for interventions to improve service delivery for vulnerable EI subgroups.

Timing and Intensity of Early Intervention Service Use and Outcomes Among a Safety-Net Population of Children.

Importance: Federal per-child early intervention (EI) appropriations have declined, while accountability for improving children's development and function has increased. It is critical to understand high-value EI services and systems. Objective: To examine EI service timeliness and intensity, and the association between service intensity and outcomes. Design, Setting, and Participants: This secondary data analysis cohort study linked pediatric primary care electronic health records and EI program records from October 1, 2014, to September 30, 2016. Sample children from a large, urban safety-net health system and EI program who were younger than 35 months with a developmental disability or delay were examined. Data analysis was conducted from December 15, 2017, to May 15, 2018. Exposures: The study included measures of condition type and severity, race and ethnicity, family income, insurance type, sex, birth weight, and language. Main Outcomes and Measures: The timeliness of EI (days from referral to EI care plan), service intensity (hours per month) overall and for core EI services (physical, occupational, speech therapy, and developmental intervention), and change in function (measured on a 13-point scale). Adjusted quantile median regression estimated timeliness and intensity. Adjusted linear regression estimated change in function. Results: Of the 722 children who received an EI care plan (median [interquartile range] time to receive EI care plan, 56.0 [1.0-111.0] days) 457 (63.3%) were male, 447 (62.0%) were younger than 12 months, 207 (28.7%) were 12 to 24 months, and 68 (9.3%) were 25 to 35 months. A total of 663 children (91.8%) had a household income of less than $20 000 annually; 305 (43%) of the sample children received an EI care plan within the 45-day deadline. Median (interquartile range) for EI intensity was 2.7 (2.3-3.6) hours per month. Children living above the federal poverty threshold received greater occupational therapy intensity (b, 1.9; 95% CI, 0.9-3.0). Greater clinical severity was associated with more timely receipt of an EI care plan. Compared with infants, 2-year-old children received a care plan almost 2 months sooner (b, -52.0; 95% CI, -79.7 to -24.3). An additional hour per month of EI service was associated with a 3-point functional gain (b, 3.0; 95% CI, 1.5-5.9) among children with complete outcomes information (n = 448). Conclusions and Relevance: In this study, greater EI service intensity was associated with better functional gains, yet most children in the study received delayed care and/or low service intensity. Clinical and EI record linkages could serve as a framework for improving EI processes.

Genetic analysis of neurodegenerative diseases in a pathology cohort.

Molecular genetic research provides unprecedented opportunities to examine genotype-phenotype correlations underlying complex syndromes. To investigate pathogenic mutations and genotype-phenotype relationships in diverse neurodegenerative conditions, we performed a rare variant analysis of damaging mutations in autopsy-confirmed neurodegenerative cases from the Johns Hopkins Brain Resource Center (n = 1243 patients). We used NeuroChip genotyping and C9orf72 hexanucleotide repeat analysis to rapidly screen our cohort for disease-causing mutations. In total, we identified 42 individuals who carried a pathogenic mutation in LRRK2, GBA, APP, PSEN1, MAPT, GRN, C9orf72, SETX, SPAST, or CSF1R, and we provide a comprehensive description of the diverse clinicopathological features of these well-characterized cases. Our study highlights the utility of high-throughput genetic screening arrays to establish a molecular diagnosis in individuals with complex neurodegenerative syndromes, to broaden disease phenotypes and to provide insights into unexpected disease associations.

Community engagement to pilot electronic patient-reported outcomes (e-PROs) in early intervention: Lessons learned.

BACKGROUND: Electronic data capture is essential to advancing family-centered coordinated care in early intervention (EI). The purpose of this paper is to report on EI service coordinator response to piloting an electronic parent-reported outcome (e-PRO) assessment as part of their routine workflow, including lessons learned that may inform future phases of e-PRO implementation. METHODS: This second pilot study involved families enrolled in a large EI program (n=1040 families) in concert with their implementation of a statewide quality improvement initiative for care plan development and outcomes reporting. A total of 22 EI service coordinators and supervisors were engaged in three phases: initial e-PRO intervention, peer mentor enhancement, and standard recruitment protocol. RESULTS: Implementation of the e-PRO intervention and peer mentoring enhancement yielded low enrollment rates over the first six months (n=17). A standard recruitment protocol has resulted in enrollment growth (n=83) towards the targeted enrollment rate (n=832). CONCLUSIONS: This study reports on early insights for building and sustaining a productive academic-community partnership for e-PRO implementation to support family-centered coordinated care. Lessons learned from this academic-community partnership with respect to strategies for enhancing community significance, collaboration, return, and control are discussed as they inform further development of this intervention prior to scale-up.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.

Structural Stability of the Coiled-Coil Domain of Tumor Susceptibility Gene (TSG)-101.

The tumor susceptibility gene-101 coiled coil domain (TSG101cc) is an integral component of the endosomal maturation machinery and cytokinesis, and also interacts with several transcription factors. The TSG101cc has been crystallized as a homotetramer but is known to interact with two of its binding partners as a heterotrimer. To investigate this apparent discrepancy, we examined the solution thermodynamics of the TSG101cc. Here, we use circular dichroism, differential scanning calorimetry, analytical ultracentrifugation, fluorescence, and structural thermodynamic analysis to investigate the structural stability and the unfolding of the TSG101cc. We demonstrate that TSG101cc exists in solution primarily as a tetramer, which unfolds in a two-state manner. Surprisingly, no homodimeric or homotrimeric species were detected. Structural thermodynamic analysis of the homotetrameric structure and comparison with known oligomeric coiled-coils suggests that the TSG101cc homotetramer is comparatively unstable on a per residue basis. Furthermore, the homotrimeric coiled-coil is predicted to be much less stable than the functional heterotrimeric coiled-coil in the endosomal sorting complex required for transport 1 (ESCRT1). These results support a model whereby the tetramer-monomer equilibrium of TSG101 serves as the cellular reservoir of TSG101, which is effectively outcompeted when its binding partners are present and the heteroternary complex can form.