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Climate change will increase the duration of annual sea-ice-free periods and shift precipitation patterns across the Arctic. Those factors are likely to increase erosion rates along its coasts. Large parts of the Arctic coast consist of hard rock. However, glacial, deltaic, and coastal sedimentary deposits occur in deglaciated areas and isostatic uplift following glaciations has created beach ridge plains and pocket beaches with coarse soft-sediment cliffs. Hitherto, very little was known about the spatial distribution, erosion rates, and morphodynamics of soft sediment cliffs along the coast of Greenland. Here, we investigate a 3-km sedimentary cliff section on the south coast of Qeqertarsuaq (Disko Island). We measured 2D cliff top erosion over 50 years between 1964 and 2014 as well as 3D cliff profile change over 2 years between 2019 and 2021. Morphometric indices of the gravel beach and cliff were calculated based on a series of cross-shore elevation profiles. Wave run-up at the beach fronting the cliff was modeled with XBeach-G for a series of storm events under present day sea-ice conditions and for a reduced sea-ice scenario. Cliff top erosion rates varied along the cliff with maximum rates of 0.3 m y−1. The investigated coastal cliff erodes by two coupled processes: (a) precipitation-driven surface runoff downslope the cliff and (b) wave-driven erosion at the cliff toe. In a continuously warming climate, this study shows that erosion of soft coastal cliffs in Greenland thus can accelerate due to increased storminess and prolonging open water periods.

Background Promoting health early in life is crucial to obesity prevention, but families in under-resourced communities face barriers to establishing healthy routines. The purpose of this pilot study was to examine the feasibility and preliminary effects of two dietary interventions for families in under-resourced communities. Methods Fifty-one caregivers of young children (aged 0–5 years) were recruited from six community centers located in heavily populated neighborhoods with high poverty rates (i.e., under-resourced neighborhoods) in southwestern Pennsylvania. A longitudinal pilot study was conducted to examine feasibility as a primary outcome and change in dietary variety (24-Hour Recall), risk of nutritional problems (Nutrition Screen for Every Preschooler), and parenting stress (Parenting Stress Index-Short Form) over time and between groups as secondary outcomes. Six sites were randomized to receive Cooking Matters for Parents, Mealtime PREP, or a combined program (Cooking Matters + Mealtime PREP). Cooking Matters for Parents is a six-week nutrition education program designed to help parents of young children plan and cook healthy meals on a budget. Mealtime PREP is a six-week routine-based intervention designed to promote healthy dietary variety among young children. We predicted that we could feasibly deliver both programs and the combined program as determined by a priori benchmarks (ability to recruit ≥ 8 participants per site; achieving an 80% intervention completion rate; being rated as an acceptable intervention by 95% of intervention completers, and treatment fidelity of ≥ 90%). Descriptive statistics and individual growth models were used to analyze data. Results Of 51 recruited participants, 49 were eligible, randomized by site, and included in the analyses. Fourteen were randomized to Cooking Matters, 13 to Mealtime PREP, and 22 to the combined program. Three of 4 feasibility benchmarks were met. Over time, improvements were observed in child dietary variety (p SE = 0.99), child nutrition risk (p = 0.01, SE = 0.61), and parenting stress (p = 0.04, SE = 1.33). An additive benefit of the combined intervention was observed for dietary variety (p = 0.03, SE = 0.79). No adverse events were observed or reported. Conclusions Offering complementary dietary interventions in under-resourced communities is feasible and shows promise to improve child and parent health. Trial registration ClinicalTrials.gov (NCT03559907).

Introduction Mother's own milk improves health outcomes in infants of all gestational ages. Although pump-dependent mothers of extremely premature infants are at risk of insufficient milk production, whether mother's milk production is impacted by gestational age and pump dependency in mothers of more mature critically ill infants is unknown. Purpose To determine whether there is a relationship between gestational age, milk production, and time to secretory activation in mothers delivering a critically ill infant. Methods A convenience sample of 136 pump-dependent mothers whose infants were admitted to the neonatal intensive care unit was enrolled between 2013 and 2016 as part of a quality improvement project. Group 1 (early preterm) delivered infants at 30 to 33 weeks of gestation (n = 41), group 2 (late preterm) 34 to 36 weeks (n = 48), and group 3 (term) 37 weeks and more (n = 47). Milk volume on days 1 to 7 was measured by weighing each vial of expressed milk and compared using general linear mixed-model analysis. Time to the onset of secretory activation was compared using censored regression analysis. Results Main effect for gestational age controlling for day was statistically significant (P = .0234). The early preterm group produced more milk over the 7-day study than the term (P = .01) and late preterm (P = .02) groups. The early preterm group achieved secretory activation earlier than the late preterm group (adjusted P = .039). Implications for practice Pump-dependent mothers of all infants admitted to the neonatal intensive care unit may be at risk of inadequate milk production and delayed secretory activation and may therefore benefit from early milk production monitoring and lactation support. Implications for research Further studies should examine targeted interventions to increase milk production in pump-dependent mothers.

Background Mother's own milk (MOM) is well known to decrease prematurity-related morbidities, yet mothers delivering preterm infants often produce insufficient quantities of milk to provide these benefits. Although a critical need exists for research to support lactation success in this vulnerable population, development and investigation of interventions to increase available MOM for infant consumption requires consistent, valid, and reliable measures of lactation outcomes. Objectives The aim of this study was to compare and contrast methods of measuring lactation outcomes in mothers of preterm infants and evaluate their advantages and disadvantages. Methods Measures of lactation outcomes were reviewed and synthesized. Insights on best practices and future research directions are provided. Results Volume of MOM produced, lactation duration, and time to onset of secretory activation are important measures of lactation success. The most valid and reliable measure of milk production is likely weighing each vial of expressed milk combined with test weighing when infants breastfeed. Measures of lactation duration should include actual days mothers lactated rather than limiting to infant consumption of MOM as a proxy for duration and include not only whether mothers are lactating at infant discharge but whether they are also lactating at other health-relevant time points during hospitalization. Although time to onset of secretory activation is an important lactation outcome, information regarding valid and reliable indicators of onset in women delivering preterm infants is limited, and investigation of such indicators is a research priority. Variables that may affect lactation outcomes, including time to initiation of expression following delivery, duration of expression sessions, expression method, time spent in skin-to-skin care, maternal demographics and comorbidities, as well as maternal intent to lactate, must be considered when researchers investigate lactation outcomes in mothers of very low birth weight infants. Discussion Consistent and valid measures of lactation outcomes are required to produce reliable results from which evidence-based practice recommendations can be developed in order to improve lactation success in this vulnerable population.

Background and Aims: Hepatic sinusoidal cells are known actors in the fibrogenic response to injury. Activated hepatic stellate cells (HSCs), liver sinusoidal endothelial cells, and Kupffer cells are responsible for sinusoidal capillarization and perisinusoidal matrix deposition, impairing vascular exchange and heightening the risk of advanced fibrosis. While the overall pathogenesis is well understood, functional relations between cellular transitions during fibrogenesis are only beginning to be resolved. At single-cell resolution, we here explored the heterogeneity of individual cell types and dissected their transitions and crosstalk during fibrogenesis. Approach and Results: We applied single-cell transcriptomics to map the heterogeneity of sinusoid-associated cells in healthy and injured livers and reconstructed the single-lineage HSC trajectory from pericyte to myofibroblast. Stratifying each sinusoidal cell population by activation state, we projected shifts in sinusoidal communication upon injury. Weighted gene correlation network analysis of the HSC trajectory led to the identification of core genes whose expression proved highly predictive of advanced fibrosis in patients with nonalcoholic steatohepatitis (NASH). Among the core members of the injury-repressed gene module, we identified plasmalemma vesicle–associated protein (PLVAP) as a protein amply expressed by mouse and human HSCs. PLVAP expression was suppressed in activated HSCs upon injury and may hence define hitherto unknown roles for HSCs in the regulation of microcirculatory exchange and its breakdown in chronic liver disease. Conclusions: Our study offers a single-cell resolved account of drug-induced injury of the mammalian liver and identifies key genes that may serve important roles in sinusoidal integrity and as markers of advanced fibrosis in human NASH.

The RATD represents a novel methodology to reduce strain, manoeuvring, and cognitive load a caregiver experiences when conducting transfers on a mannequin. However, caregivers who used this new technology report suggested adjustments regarding the robot's human machine interface and shape as to improve transfer efficiency and comfort for care recipients. The purpose of this study was to test a redesigned RATD and compare its ergonomics during a transfer to those of a mechanical floor lift.This was cross sectional protocol. As opposed to prior research which used a mannequin, caregivers in this study (Results indicated reduced physical demand (

Introduction The purpose of this study was to examine parental use of evidence-based mealtime strategies, child mealtime behavior, and parental identification of mealtime problems over time as parents were coached to implement the Promoting Routines of Exploration and Play during Mealtime intervention as part of a pilot study. Method This repeated measures study included data collection during three phases: (a) pre-intervention; (b) intervention; (c) post-intervention. Primary outcome measures included a parental strategy use checklist (parental strategy use) and the Behavioral Pediatric Feeding Assessment (problematic child behavior and parental identification of mealtime problems). Linear mixed models were fitted to assess change over time. Results We observed significant improvements in parental strategy use ( p Conclusions The results of these analyses signal that empowering parents to integrate evidence-based strategies into child mealtimes is a promising approach to managing child mealtime behavior. More research is needed to determine the true relationship between parental strategy use and child behavior over time.

Background When tested in a controlled clinic environment, individuals with neuromuscular-related symptoms may complete motor tasks within normal predicted ranges. However, measuring activity at home may better reflect typical motor performance. The accuracy of accelerometry measurements in individuals with congenital muscular dystrophy (CMD) is unknown. We aimed to compare accelerometry and manual step counts and assess free-living physical activity intensity in individuals with CMD using accelerometry. Methods Ambulatory pediatric CMD participants (n = 9) performed the 6-minute walk test in clinic while wearing ActiGraph GT3X accelerometer devices. During the test, manual step counting was conducted to assess concurrent validity of the ActiGraph step count in this population using Bland-Altman analysis. In addition, activity intensity of 6 pediatric CMD participants was monitored at home with accelerometer devices for an average of 7 days. Cut-point values previously validated for neuromuscular disorders were used for data analysis. Results Bland-Altman and intraclass correlation analyses showed no concurrent validity between manual and ActiGraph-recorded step counts. Fewer steps were recorded by ActiGraph step counts compared with manual step counts (411 ± 74 vs 699 ± 43, respectively; P = .004). Although improved, results were in the same direction with the application of low-frequency extension filters (587 ± 40 vs 699 ± 43, P = .03). ActiGraph step-count data did not correlate with manual step count (Spearman ρ = 0.32, P = .41; with low-frequency extension: Spearman ρ = 0.45, P = .22). Seven-day physical activity monitoring showed that participants spent more than 80% of their time in the sedentary activity level. Conclusions In a controlled clinic setting, step count was significantly lower by ActiGraph GT3X than by manual step counting, possibly because of the abnormal gait in this population. Additional studies using triaxial assessment are needed to validate accelerometry measurement of activity intensity in individuals with CMD. Accelerometry outcomes may provide valuable measures and complement the 6-minute walk test in the assessment of treatment efficacy in CMD.

To identify future research priorities and meaningful outcomes focused on community-level interventions for children and youth with intellectual and developmental disabilities and families, a group underrepresented in research, we established a diverse patient-centered outcomes research (PCOR) community. We focused on engaging regionally and nationally-diverse stakeholders—individuals, families, healthcare professionals, community, and policy experts—in research development activities that would build partnerships and research capacity. This community of stakeholders also represented the matrix of systems, services, and programs that people frequent in their communities (e.g., cultural arts, worship, sports and recreation, and transportation). We present the engagement process and methods for including individuals with intellectual and developmental disabilities as stakeholders in research planning and processes. The results of planning, completing, and evaluating three face-to-face research capacity-building meetings and their subsequent stakeholder engagement activities include: (1) individuals with intellectual and developmental disabilities and their families clearly expressed a desire to be included and to feel good about their participation in community settings, (2) many of our stakeholders wanted action and change to happen in their communities now, and often did not realize or understand that research takes time, (3) organizations expressed a need for mentoring related to best practices for access and inclusive programming. Overarching issues around societal inclusion, equal opportunities, and life chances for individuals with intellectual and developmental disabilities and their families were front and center across communities and multi-stakeholder groups, and achieving change remains valued and a high priority.

Purpose: Barth syndrome is an X-linked rare disorder that typically affects only males. This study investigates 1) agreement between child self-reports and parent proxy-reports of HRQoL in boys with Barth syndrome and 2) relationship between parental HRQoL and parent proxy-reports of HRQoL for the child. Materials and methods: Twenty-eight boys with Barth syndrome and their parents participated in this study. The PedsQL™ 4.0 and the PedsQL™ Family Impact Module were used to measure HRQoL of the boys, and the parents’ HRQoL, respectively. The Intraclass Correlation Coefficient was used to test agreement between the child self-reports and parent proxy-reports of HRQoL. The Spearman correlation coefficient was used to test the relationship between parental HRQoL and parent proxy-reports of HRQoL for the child. Results: The agreement between the child self-reports and the parent proxy-reports showed moderate-to-good agreement. Higher parental HRQoL was significantly related to higher ratings of the parents on their children’s HRQoL (p < .05). Conclusions: This study broadens understanding of HRQoL of boys with Barth syndrome using both child self-reports and parent proxy-reports. The findings indicate that the parent proxy-report of HRQoL should be used in conjunction with the child self-report when making client-centered health decisions.

Promoting Routines of Exploration and Play during Mealtime (Mealtime PREP) is an intervention designed to support healthy dietary variety in children. To estimate the effects of this intervention, we recruited 20 parents and children (aged 1–5 years) with sensory food aversions to participate in a pilot study. Parents were coached to enhance daily child meals using Mealtime PREP. Our primary outcome was acceptance of targeted food (number of bites) over time. Descriptive statistics and effect sizes are reported. Moderate effects were observed for acceptance of targeted food. Mealtime PREP warrants additional research to examine effects in larger, more diverse samples.

Mother's own milk provides personalized nutrition and immune protection to the developing infant. The presence of healthy microbes plays an important role in the infant's gut by programming the microbiota and excluding potential pathogens. This review describes the important components in mother's own milk that contribute to its superiority for infant nutrition and suggest potential strategies to replicate these factors in alternative feedings when sufficient milk is unavailable. Current strategies to supplement, substitute and replicate mother's own milk including microbial restoration, use of unpasteurized donor human milk, probiotics and fortification are discussed. Critical work remains to be done in understanding the human milk microbiome and metabolome and in improving lactation support for mothers of preterm infants. Increasing delivery of mother's own milk and milk components to infants would likely positively impact infant mortality and health worldwide.

Promoting health early in life is crucial to obesity prevention, but families in under-resourced communities face barriers to establishing healthy routines. The purpose of this pilot study was to examine the feasibility and preliminary effects of two dietary interventions for families in under-resourced communities.Fifty-one caregivers of young children (aged 0-5 years) were recruited from six community centers located in heavily populated neighborhoods with high poverty rates (i.e., under-resourced neighborhoods) in southwestern Pennsylvania. A longitudinal pilot study was conducted to examine feasibility as a primary outcome and change in dietary variety (24-Hour Recall), risk of nutritional problems (Nutrition Screen for Every Preschooler), and parenting stress (Parenting Stress Index-Short Form) over time and between groups as secondary outcomes. Six sites were randomized to receive Cooking Matters for Parents, Mealtime PREP, or a combined program (Cooking Matters + Mealtime PREP). Cooking Matters for Parents is a six-week nutrition education program designed to help parents of young children plan and cook healthy meals on a budget. Mealtime PREP is a six-week routine-based intervention designed to promote healthy dietary variety among young children. We predicted that we could feasibly deliver both programs and the combined program as determined by a priori benchmarks (ability to recruit ≥ 8 participants per site; achieving an 80% intervention completion rate; being rated as an acceptable intervention by 95% of intervention completers, and treatment fidelity of ≥ 90%). Descriptive statistics and individual growth models were used to analyze data.Of 51 recruited participants, 49 were eligible, randomized by site, and included in the analyses. Fourteen were randomized to Cooking Matters, 13 to Mealtime PREP, and 22 to the combined program. Three of 4 feasibility benchmarks were met. Over time, improvements were observed in child dietary variety (p 0.01, SE = 0.99), child nutrition risk (p = 0.01, SE = 0.61), and parenting stress (p = 0.04, SE = 1.33). An additive benefit of the combined intervention was observed for dietary variety (p = 0.03, SE = 0.79). No adverse events were observed or reported.Offering complementary dietary interventions in under-resourced communities is feasible and shows promise to improve child and parent health.ClinicalTrials.gov (NCT03559907).

To develop a novel proxy-reported scale of motor function in infants and young children with early-onset neuromuscular disorders (NMD), entitled the Proxy Motor Outcome Measure (PMOM).A mixed method design was employed, applying both qualitative and quantitative research.A framework technique using sensitivity analyses guided the development of the most appropriate and relevant subset of items, modelled after 30 neuromuscular disease instruments/scales. The PMOM was designed based on semi-structured interviews with 16 proxies; a focus group of 11 experts in neuromuscular diseases and scale development, 10 of whom also gave quantitative data using a two-round Delphi method survey; and cognitive interviews with five proxies. These processes were conducted between January 2014-March 2019.Nine themes and 32 subthemes were derived from the semi-structured interviews. Five domains and three subdomains of potential items were identified by the focus group. An initial version of the PMOM scale was created with 121 items. Using the two-round Delphi method, 43 items met agreement on pre-defined requirements. The second version of the PMOM scale included these 43 and two additional items based on expert feedback. Proxies gave 114 suggestions on cognitive interviews, 99 of which were successfully addressed by the research team. The final version of the PMOM scale included 43 items.We developed a preliminary proxy-reported instrument, the PMOM, to evaluate motor function in infants and young children with early-onset NMD.Proxies hold a wealth of knowledge on their child's motor function during early development, which may complement clinic-based motor function testing. However, there is no validated measure of motor function that incorporates the observation of proxies of infants and young children with NMD. Future work will be focused on assessing the reliability, validity and responsiveness of the PMOM scale and implementing this tool in clinical studies.目的: 开发新型代理报告的早发性神经肌肉疾病 (NMD) 婴幼儿运动机能量表, 名为代用性运动功能量表(PMOM)。 设计: 采用混合法设计, 定性和定量研究相结合。 方法: 以30个神经肌肉疾病仪器/量表为模型, 使用敏感性分析的框架技术指导最合适和相关的项目子集的开发。基于对16位代理人的半结构化访谈,设计代理运动结果测量; 由11位神经肌肉疾病和量表开发专家组成的焦点小组, 其中10位专家还使用两轮德尔菲调查法提供了定量数据; 以及对5位代理人进行认知访谈。这些过程已在2014年1月至2019年3月期间实施。 结果: 9个主题和32个子主题来自半结构化访谈。焦点小组确定了潜在项目的五个领域和三个子领域。代理运动结果测量量表的初始版本由121个项目组成。43个项目采用两轮德尔菲法, 且符合预先规定的要求。代理运动结果测量量表的第二个版本包括了这43个项目和两个基于专家反馈的附加项目。代理人在认知访谈中给出了114条建议, 研究小组成功地采用了其中的99条建议。代理运动结果测量量表的最终版本包括43个项目。 结论: 我们开发了一种初步代理报告工具, 即代理运动结果测量, 用于评估早发性神经肌肉疾病婴幼儿的运动机能。 影响: 代理人非常了解孩子在早期发育的运动机能, 这可能是对临床运动机能测试的补充。然而, 目前还没有一种有效的运动机能测量方法, 包括观察患有早发性神经肌肉疾病婴幼儿的代理人。未来的工作将集中于评估代理运动结果测量量表的信度、效度和反应性, 并在临床研究中实施这一工具。.

Introduction: The effects of spinal bulbar muscular atrophy (SBMA) on quality of life (QoL) are not well understood. This study describes symptoms from the patient's perspective, and the impact these symptoms have on QoL. Methods: We conducted open-ended interviews with 21 adult males with genetically confirmed SBMA. Using a qualitative framework technique, interviews were coded and analyzed to identify symptoms and resulting themes. Results: From these interviews, 729 quotations were extracted. We identified 200 SBMA-specific symptoms and 20 symptomatic themes. Weakness was mentioned by all interviewees. Symptoms within the domain of mental health and the specific themes of emotional issues and psychological impact were also frequently mentioned. Discussion: Numerous symptoms affect QoL for SBMA subjects. We identified previously unrecognized symptoms that are important to address in enhancing clinical care for patients with SBMA, and in developing tools to evaluate efficacy in future clinical trials. This article is protected by copyright. All rights reserved.

The intestinal microbiome is the genetic material from microorganisms residing in the intestinal tract. Very low-birth-weight infants (VLBW; birth weight ≤1500 g) are a physiologically compromised population undergoing a unique period of initial intestinal microbiome establishment. Evidence supports a connection between the intestinal microbiome and gastrointestinal illness that disproportionately affects VLBW infants. Necrotizing enterocolitis, an inflammatory and often necrotic condition of the intestine, and late-onset sepsis, a bloodstream infection occurring after 3 days of life, are thought to be associated with delayed or abnormal intestinal microbiome development. Here, we review the determinants, or factors, that influence the VLBW infant's intestinal microbiome and discuss clinical implications. PubMed, Web of Science, EMBASE, and CINAHL were systematically searched for publications addressing factors with the potential to affect the intestinal microbiome of VLBW infants. Results indicate that infant's age and weight, mode of delivery, antibiotic exposure, medication use, feeding regime, environment, and perinatal-/infant-associated factors may be important determinants of the microbiome in this vulnerable population. Clinicians have opportunities to support positive development of the VLBW infant's intestinal microbiome through antibiotic stewardship, support of human milk feeding, and hygienic care practices.

Objectives Sleep health in rare disease is often overlooked due to the complex nature of the disease. For males with Duchenne muscular dystrophy, sleep assessment is typically focused on pulmonary function and identification of sleep disordered breathing. Unfortunately for young boys with Duchenne muscular dystrophy, sleep assessment is often neglected, resulting in a dearth of knowledge on sleep health in this population. This study describes sleep quantity and quality in both younger (4–9 years) and older (10–17 years) males with Duchenne muscular dystrophy (n = 19) and compares these characteristics with sleep characteristics of unaffected peers (n = 17). Methods This study was a longitudinal, observational study. Sleep measures were collected using the parent-proxy Children's Sleep Habits Questionnaire-Abbreviated version and objective sleep measures from actigraphy (sleep efficiency, awakenings, and awakening duration) over 30 days for all participants. Means and standard deviations were examined, and effect sizes were computed to quantify the magnitude of difference between the Duchenne muscular dystrophy and unaffected groups. Results Overall, boys with Duchenne muscular dystrophy were found to experience worse sleep than their unaffected peers as measured by parent report and actigraphy. Effect sizes of both measures demonstrated moderate to large magnitudes of difference in many of the sleep variables. Parents of boys with Duchenne muscular dystrophy reported higher scores (indicating worse sleep) in all subsections and total score of the Children's Sleep Habits Questionnaire – Abbreviated version. Actigraphy data indicated that the Duchenne muscular dystrophy group had lower percent sleep efficiency, more night awakenings and longer duration of night awakenings than their unaffected peers. Conclusion Our findings offer a novel look into sleep in young boys with Duchenne muscular dystrophy. Both parent-report and actigraphy data indicate poor sleep health in this population compared with age-matched unaffected peers. Actigraphy was found to align with parent-report of sleep in this population, supporting the use of these two different ways to measure sleep in Duchenne muscular dystrophy. Results from this study should encourage clinicians and researchers alike to further explore sleep and its impact on disease in young boys with Duchenne muscular dystrophy.

Date Presented Accepted for AOTA INSPIRE 2021 but unable to be presented due to online event limitations. This research presentation provides information on daytime and nighttime activity of boys with DMD in their everyday lives and while enrolled in a 12-month clinical trial. This research addresses the gap in knowledge regarding community-based outcomes in DMD, such as daily activity and sleep, and how therapeutic interventions may affect these outcomes. Primary Author and Speaker: Roxanna Bendixen Additional Authors and Speakers: Sarah McKendry, Natalie Silverman Contributing Authors: Amy Gore Hartman

Date Presented 03/27/20 Circadian rhythms are physical, mental, and behavioral changes that follow a daily cycle. They help influence sleep and wake patterns and can be useful in identification of maladaptive sleep patterns that are known to exacerbate symptoms of rare disease. This research explored circadian rhythms and sleep in young males with Duchenne muscular dystrophy and age-matched unaffected males. Understanding circadian rhythms is pivotal for successful sleep intervention. Primary Author and Speaker: Amy Hartman Additional Authors and Speakers: Roxanna Bendixen Contributing Authors: Lauren Terhorst, Natalie Little, Chin-Hao Yeh

Date Presented 03/27/20 This study is a longitudinal, randomized clinical trial exploring the benefits of two wheelchair-mounted dynamic arm supports (KINOVA O540 and JAECO WREX) in nonambulatory individuals with DMD experiencing upper-extremity weakness. Data collected will provide information about upper-extremity movement patterns and performance, as well as participant-reported outcomes regarding function, goal attainment, independence, quality of life, and user satisfaction. Primary Author and Speaker: Danielle Hall Contributing Authors: Natalie Silverman, Michelle Beck, Margaret Feltman, Amy Hartman, Roxanna Bendixen

Date Presented 03/26/20 We will share methods and lessons learned from engaging stakeholders in three US regions and connecting them nationally to build research capacity and partnerships. Research-capacity building is aimed at identifying stakeholder-driven priorities and outcomes in relation to organization-level OT interventions, how these interventions facilitate community participation, and ultimately impact health and well-being of individuals with intellectual and developmental disabilities. Primary Author and Speaker: Tracy Jirikowic Additional Authors and Speakers: Roger Ideishi, Roxanna Bendixen, Teal Benevides

Date Presented 03/28/20 Our longitudinal study is exploring the feasibility and reliability of using actigraphy as a meaningful outcome measure in children ages four through seven involved in a clinical trial. Our data examine activity levels and sleep patterns in boys with DMD in their natural environment throughout the drug trial. We hypothesize that using activity monitoring as an outcome measure will provide a meaningful view of daytime and nighttime activity for these young boys to show treatment effect. Primary Author and Speaker: Natalie Silverman Contributing Authors: Michelle Beck, Danielle Hall, Amy Hartman, Roxanna Bendixen

OBJECTIVES/GOALS: Feeding preterm infants with mother’s own milk (MOM) lowers rates of sepsis, decreases necrotizing enterocolitis, and shortens hospital stay. Our objective is to determine whether a similar microbial diversity to MOM can be obtained when fresh or frozen MOM is inoculated in donor human milk (DHM). METHODS/STUDY POPULATION: Subjects included 12 mothers of infants born 100ml of MOM per day and were excluded if they had taken antibiotics within 3 days of the 1-time pumped MOM sample collection. MOM sample was divided into fresh (processed immediately) and frozen (−20°C) for 24h fractions. MOM was inoculated in DHM [referred to as refaunated milk (RM)] at 10% (RM10) and 30% (RM30) dilutions, then incubated at timepoints: 0h, 2h, 4h at 37°C. At each timepoint, total viable microbial cell counts were performed in differential or selective media along with future 16S rRNA sequencing. RESULTS/ANTICIPATED RESULTS: Microbiota expansion was detected in MOM, RM10 and RM30 over time whether fresh or frozen milk was used as the inoculum. Incubated fresh and frozen MOM had similar bacterial loads when tested on nutrient agar (10^5-10^6 CFU/mL), mannitol salt (10^6 CFU/mL), MacConkey (10^2-10^5 CFU/mL), blood agar (10^6 CFU/mL) and MRS (10^4 CFU/mL) plates. Based on these CFU counts, RM30 incubated for 2h and RM10 at 4h showed similar counts to that of MOM at 0h. DISCUSSION/SIGNIFICANCE OF IMPACT: RM, inoculated with fresh or frozen MOM, obtained a similar microbial count compared to MOM at 0h indicates that fresh or frozen MOM can inoculate DHM. 16s rRNA sequencing is ongoing. Future studies are needed to support an inoculation protocol to be used in clinical practice and human milk banking.

OBJECTIVE. Systematic approaches are needed to help parents with young children adopt healthy routines. This study examined the feasibility (home data collection, protocol adherence, intervention acceptance) of using a behavioral activation (BA) approach to train parents of children with sensory food aversions.METHOD. Parents of young children (18–36 mo) were trained using the novel Promoting Routines of Exploration and Play During Mealtime intervention. Measures included video-recorded meals, Fidelity Checklist, Treatment Acceptability Questionnaire, and Behavioral Pediatrics Feeding Assessment Scale. Descriptive statistics were used.RESULTS. Eleven children and their parents completed the study. Two of three feasibility benchmarks were met. Intervention acceptance was high (mean score = 43/48). On average, parents used three more intervention strategies after training than at baseline.CONCLUSION. Using a BA approach to parent training shows promise for altering daily mealtime routines. Delivering this intervention in the home is feasible and received acceptable ratings among this sample.

Non-alcoholic steatohepatitis (NASH) signified by hepatic steatosis, inflammation, hepatocellular injury, and fibrosis is a growing cause of chronic liver disease, cirrhosis, and hepatocellular carcinoma. Hepatic fibrosis resulting from accumulation of extracellular matrix proteins secreted by hepatic myofibroblasts plays an important role in disease progression. Activated hepatic stellate cells (HSCs) have been identified as the primary source of myofibroblasts in animal models of hepatotoxic liver injury; however, so far HSC activation and plasticity have not been thoroughly investigated in the context of NASH-related fibrogenesis. Here we have determined the time-resolved changes in the HSC transcriptome during development of Western diet- and fructose-induced NASH in mice, a NASH model recapitulating human disease. Intriguingly, HSC transcriptional dynamics are highly similar across disease models pointing to HSC activation as a point of convergence in the development of fibrotic liver disease. Bioinformatic interrogation of the promoter sequences of activated genes combined with loss-of-function experiments indicates that the transcriptional regulators ETS1 and RUNX1 act as drivers of NASH-associated HSC plasticity. Taken together, our results implicate HSC activation and transcriptional plasticity as key aspects of NASH pathophysiology.

OBJECTIVE: Many children with autism spectrum disorder (ASD) have feeding and mealtime problems. To address these, we conducted a pilot randomized trial of a new 11-session, individually delivered parent training program that integrated behavioral strategies and nutritional guidance (PT-F). METHODS: Forty-two young children (age: 2 to 7–11 years) with ASD and feeding problems were assigned to 11 sessions of PT-F intervention over 20 weeks or a waitlist control. Outcomes included attendance, parent satisfaction, therapist fidelity, and preliminary assessments of child and parent outcomes. RESULTS: Of the 21 PT-F families, attendance was high (85%) as was parent satisfaction (94% would recommend to others). Treatment fidelity was also high (97%—therapist integrity; 94%—parent adherence). Compared with waitlist, children whose parents participated in PT-F showed significantly greater reductions on the two parent-completed primary outcomes (Brief Autism Mealtime Behavior Inventory-Revised; T(wald) = −2.79; p = .003; About Your Child’s Eating; T(wald) = −3.58; p = .001). On the independent evaluator-completed secondary eating outcome, the Clinical Global Impression-Improvement, 48.8% of the participants in PT-F were rated as “responders” compared with 0% in waitlist (p = .006). General child disruptive behavior outcomes decreased more in PT-F but not significantly. Parent outcomes of caregiver stress showed nonsignificant trends favoring PT-F with moderate to small effect sizes. CONCLUSIONS: This trial provides evidence for feasibility, satisfaction, and fidelity of implementation of PT-F for feeding problems in young children with ASD. Feeding outcomes also appeared favorable and lends support for conducting a larger efficacy trial.

OBJECTIVES/SPECIFIC AIMS: Aim 1: To compare frozen MOM to fresh MOM over time as an agent to inoculate DHM and measure the enrichment of commensal microbes and their beneficial bioactive components similar to MOM. Hypothesis: Frozen or fresh MOM inoculated in DHM will produce similar microbial content to MOM over time allowing for the production of beneficial bacterial compounds that may contribute to host immune response. Aim 2: To determine the effect of MOM storage (fresh vs frozen) on the expansion of bioactive components from live microbiota in DHM. Hypothesis: Both fresh and frozen MOM will produce similar results when inoculated into DHM to restore the microbial content (including their bioactive components) similar to each MOM sample. Aim 3: To compare the microbiome found in a mother’s MOM to the microbiome in her infant’s stool. Hypothesis: The mother/infant pair will share a common microbiome between the mother’s MOM and her infant’s stool. METHODS/STUDY POPULATION: Subjects will include 12 pump-dependent mothers of infants born < 34 weeks gestation admitted to the University of Florida Health Shands Hospital, Neonatal Intensive Care Unit (NICU). Inclusion criteria consists of mothers expressing over 100 ml of MOM per day, producing at least 45 ml of MOM at an expression session, at least 18 years of age, and speak English. Mothers are excluded if they have taken antibiotics within 3 days of sample collection, are HIV+, or delivered an infant who has a chromosomal abnormality or is severely ill. An expressed MOM sample will be collected and divided into two fractions: (A) fresh and (B) frozen at -20C for 24 h. The fresh fraction (A) will be processed immediately while the frozen fraction (B) will be processed after 24 h. Each MOM will be inoculated in DHM at dilutions of 10% and 30% and incubated at different time points: 0 h (T0), 2 h (T2), 4 h (T4) at 37°C. At each time point, total viable cell counts as well as microbiome analysis through 16S ribosomal shotgun sequencing will be performed and compared for differences. Bacteria isolated from each MOM will be saved, identified through 16S ribosomal sequencing and grown in culture for future studies. Fecal samples from each corresponding infant will be collected within 48 h after collection of the MOM sample. Stools will be homogenized and subjected to DNA extraction to perform 16S ribosomal shotgun sequencing. Microbiome analysis will be conducted, compared between fecal samples as well as with the microbiome of the MOM. RESULTS/ANTICIPATED RESULTS: Study is ongoing. We anticipate similar results with fresh or frozen MOM to that of a previous pilot study, where enriched microbiota similar to MOM was found when fresh MOM was inoculated and incubated in DHM. The microbiome analysis of the infant fecal samples may illustrate the influence that the microbiome of the MOM may have on the development of the infants’ gastrointestinal microbiota. DISCUSSION/SIGNIFICANCE OF IMPACT: The purpose of this study is to provide evidence on the ability, timing, and efficacy of inoculating DHM with fresh and frozen MOM. Study results will inform future studies to support the implementation of an inoculation procedural protocol to be used in clinical practice and human milk banking. The description of the MOM microbiome, as well as the gastrointestinal microbiome, will expand scientific knowledge on the role breast milk has on the origins of health and disease.

Background. Social participation involves activities and roles providing interactions with others, including those within their social networks. Purpose. This study sought to characterize social networks and participation with others for 36 youth, ages 11 to 16 years, with ( n = 19) and without ( n = 17) learning disability, attention disorder, or high-functioning autism. Method. Social networks were measured using methods of personal network analysis. The Children’s Assessment of Participation and Enjoyment With Whom dimension scores were used to measure participation with others. Youth from the clinical group were interviewed regarding their experiences within their social networks. Findings. Group differences were observed for six social network variables and in the proportion of overall, physical, recreational, social, and informal activities engaged with family and/or friends. Qualitative findings explicated strategies used in building, shaping, and maintaining social networks. Implications. Social network factors should be considered when seeking to understand social participation.

Potential therapies are currently under development for two congenital muscular dystrophy (CMD) subtypes: collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). However, appropriate clinical outcome measures to be used in clinical trials have not been validated in CMDs. We conducted a two-year pilot study to evaluate feasibility, reliability, and validity of various outcome measures, particularly the Motor Function Measure 32, in 33 subjects with COL6-RD and LAMA2-RD. In the first year, outcome measures tested included: Motor Function Measure 32 (MFM32), forced vital capacity (FVC) percent predicted sitting, myometry, goniometry, 10-meter walk, Egen Klassification 2, and PedsQL TM Generic and Neuromuscular Cores. In the second year, we added the North Star Ambulatory Assessment (NSAA), Hammersmith Functional Motor Scale (HFMS), timed functional tests, Measure of Activity Limitations (ACTIVLIM), Quality of Upper Extremity Skills Test (QUEST), and Patient-Reported Outcomes Measurement Information System (PROMIS) fatigue subscale. The MFM32 showed strong inter-rater (0.92) and internal consistency (0.96) reliabilities. Concurrent validity for the MFM32 was supported by large correlations (range 0.623–0.936) with the following: FVC, NSAA, HFMS, timed functional tests, ACTIVLIM, and QUEST. Significant correlations of the MFM32 were also found with select myometry measurements, mainly of the proximal extremities and domains of the PedsQL TM scales focusing on physical health and neuromuscular disease. Goniometry measurements were less reliable. The Motor Function Measure is reliable and valid in the two specific subtypes of CMD evaluated, COL6-RD and LAMA2-RD. The NSAA is useful as a complementary outcome measure in ambulatory individuals. Preliminary concurrent validity of several other clinical outcome measures was also demonstrated for these subtypes.

Background: Many adolescents and young adults with chronic illness or disability often fail to develop the self-management skills necessary to independently handle medical and self-management routines. In light of these needs, we are developing iMHere 2.0 (Interactive Mobile Health and Rehabilitation), a mobile health (mHealth) system to support a self-management program. Objective: Our objective was to gather data from persons with brain and spinal cord anomalies (BSA) and their caregivers to better understand how mHealth would be most helpful in supporting them to proactively manage daily self-care routines and to access medical care as needed. The specific purpose was not only to gather feedback and to gain increased insight into the design of the new version of iMHere, but also to gather perspectives of new groups, namely adolescents as young as 12 years and their parents and/or caregivers. Methods: Our project employed focus group sessions and surveys to collect data from participants with BSA, as well as their caregivers. A total of six focus group sessions were conducted on four separate occasions until the data gathered reached saturation. The objectives of our focus group sessions were to better understand ways to develop mHealth systems to support self-management, to promote independence, to motivate long-term system use, and to prevent medical problems that lead to hospitalizations and emergency room visits for youth and young adults with BSA. Results: A total of 16 youth and young adults with BSA and 11 caregivers participated in the sessions. Within and among our groups, the following five overarching themes emerged from the data: (1) make it easy, (2) engage, (3) educate and prepare, (4) motivate and support, and (5) personalize. Participants shared their perspectives and detailed information about mHealth apps that would be important for independence in self-care and self-management. Conclusions: Our findings suggest that most individuals keep their mobile phones with them at all times and typically use a mobile phone for social media, music, photos, and texting. Our qualitative analysis indicates that youth and young adults with BSA, as well as their caregivers, acknowledge the importance of being actively engaged in developing and using mHealth apps that monitor and manage their health care needs. Information gleaned from these focus group sessions and surveys have provided data to refine the iMHere 2.0 mHealth prototype platform that we have developed. [JMIR Mhealth Uhealth 2017;5(9):e141]

Date Presented 04/04/19 This project is an exploratory study of levels of physical activity in boys with Duchenne Muscular Dystrophy collected in the natural environment using actigraphy. Data collected by the Actigraph GT9x is used to develop algorithms to categorize the distribution of energy expenditure throughout the day. This study presents inaccuracies with using typical pediatric actigraphy algorithms in children with disability and the need to develop custom algorithms that correlate to our population. Primary Author and Speaker: Natalie Little Additional Authors and Speakers: Margaret Feltman Contributing Authors: Amy Hartman, Annmarie Kelleher, Roxanna Bendixen

To investigate the level of agreement between child self-reports and parent proxy-reports of the health-related quality of life (HRQoL) in boys with Duchenne muscular dystrophy (DMD) using both classical test theory (CTT) and Rasch analysis.A total of 63 boys with DMD and their parents completed the pediatric quality of life inventory version 4.0 child self-report and parent proxy-report of HRQoL, respectively. The data were analyzed using both the CTT (scale-score level) and Rasch analysis (item-level).The intraclass correlation coefficient (ICC, scale-score level) between children and parents showed good to moderate agreement, although parents consistently underestimated their child HRQoL. In Rasch analysis (item-level), 1 out of 8 items was significantly different between children and parents in the physical health scale. Also, 3 out of 15 items were significantly different between those two groups in the psychosocial health scale.By applying both scale-score and item-level analyses, our study seeks to broaden the understanding of the discrepancy of the ratings between child self-reports and parent proxy-reports. The findings could provide further information about the decision-making process when selecting therapy and care programs.

Pediatric occupational therapy practitioners frequently provide interventions for children with differences in sensory processing and integration. Confusion exists regarding how best to intervene with these children and about how to describe and document methods. Some practitioners hold the misconception that Ayres Sensory Integration intervention is the only approach that can and should be used with this population. The issue is that occupational therapy practitioners must treat the whole client in varied environments; to do so effectively, multiple approaches to intervention often are required. This article presents a framework for conceptualizing interventions for children with differences in sensory processing and integration that incorporates multiple evidence-based approaches. To best meet the needs of the children and families seeking occupational therapy services, interventions must be focused on participation and should be multifaceted.

Congenital muscular dystrophy (CMD) comprises a rare group of genetic muscle diseases that present at birth or early during infancy. Two common subtypes of CMD are collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). Traditional outcome measures in CMD include gross motor and mobility assessments, yet significant motor declines underscore the need for valid upper extremity motor assessments as a clinical endpoint. This study validated a battery of upper extremity measures in these two CMD subtypes for future clinical trials. For this cross-sectional study, 42 participants were assessed over the same 2-5 day period at the National Institutes of Health Clinical Center. All upper extremity measures were correlated with the Motor Function Measure 32 (MFM32). The battery of upper extremity assessments included the Jebsen Taylor Hand Function Test, Quality of Upper Extremity Skills Test (QUEST), hand held dynamometry, goniometry, and MyoSet Tools. Spearman Rho was used for correlations to the MFM32. Pearson was performed to correlate the Jebsen, QUEST, hand-held dynamometry, goniometry and the MyoSet Tools. Correlations were considered significant at the 0.01 level (2-tailed). Significant correlations were found between both the MFM32 and MFM Dimension 3 only (Distal Motor function) and the Jebsen, QUEST, MyoGrip and MyoPinch, elbow flexion/extension ROM and myometry. Additional correlations between the assessments are reported. The Jebsen, the Grasp and Dissociated Movements domains of the QUEST, the MyoGrip and the MyoPinch tools, as well as elbow ROM and myometry were determined to be valid and feasible in this population, provided variation in test items, and assessed a range of difficulty in CMD. To move forward, it will be of utmost importance to determine whether these upper extremity measures are reproducible and sensitive to change over time.

Purpose Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease with no known cure. We sought to update over 30 years of research reporting on the diagnostic delays in DMD. Methods Through personal interviews, this study qualitatively explored parents' experiences regarding receipt of the DMD diagnosis and the guidance for care provided. Thematic analysis identified themes and provided answers to the research questions being addressed. Results Four themes emerged: (a) Dismissive illustrates little consideration of parent concern in the diagnostic process; (b) Limited Knowledge describes misunderstandings about clinical signs, recommended screenings, and testing to achieve a diagnosis of DMD; (c) Careless Delivery reports on the manner in which the diagnosis was given; and (d) Lack of Guidance describes the follow-up that occurred after the diagnosis. Conclusion Despite marked medical progress over the past several decades, substantial barriers to arriving at the diagnosis of DMD and the provision of care guidance remain.

Barth syndrome is a genetic disorder that affects approximately 1/500,000 boys each year. While treatment of medical complications associated with Barth is of primary importance, there is a concomitant need to look at behavioral and clinical features of the disorder. The purpose of this study was to examine the prevalence of atypical sensory processing in 21 boys with Barth syndrome and to explore if phenotypic patterns of sensory responsiveness may be useful in early diagnosis. Using a mixed methods approach, we found that sensory issues related to feeding and eating were ubiquitous in our sample, with some behaviors such as strong gag reflex identifiable early in development. Specifically, boys with Barth had a strong preference for salty, cheesy, and spicy foods while having an overall restricted repertoire of foods they would eat (e.g., picky eaters). In boys with Barth as they age, auditory sensitivity and auditory filtering issues also emerged as potential sensory-related behaviors affecting academic performance and participation. Overall, this study suggests that early identification of sensory patterns in Barth may assist in differential diagnosis and create opportunities for early interventions that may minimize the impact of these behaviors on function and participation. © 2012 Wiley Periodicals, Inc.

Parents of children with autism report high rates of stress. Parental differences in stress are inconsistent, with most research demonstrating that mothers report higher levels of stress than fathers. This study explored parental differences pre-post an interdisciplinary in-home training program. Fathers of children with autism were taught an intervention designed to improve their child's social reciprocity and communication, and then trained the mothers. Stress through the PSI and family dynamics through the FACES-II was assessed. Pre-intervention, both mothers and fathers reported high levels of stress. Post-intervention, father's stress was reduced, but did not show significance possibly due to the variability in their scores; mothers’ stress scores reduced significantly. Parenting styles were significantly different pre and post intervention. Based on subscale scores on the FACES-II, mothers were more adaptable, while fathers were more structured. Interdisciplinary teams, including OT's, nurses and special educators, can work together to provide early intervention and positively impact the lives of families of children with autism.