Feeding practices and weight status of children with congenital Zika syndrome: A longitudinal study in Brazil.

OBJECTIVE: The objective of this study was to describe feeding practices and weight status in a cohort of children with congenital Zika syndrome (CZS) in northeastern Brazil. METHODS: This longitudinal study of children with CZS (N = 156) included data collection on child feeding practices and weight status at five timepoints between 2018 and 2022. The average age of the children was 32.1 months at enrollment and 76.6 months at the fifth assessment. Multilevel models, with repeated observations nested within children, were used to estimate time-related differences in each outcome. RESULTS: Use of enteral feeding, such as gastrostomy, increased from 19.2% to 33.3% over 4 years (p < .001). Among children who did not exclusively use an enteral feeding method, the percentage experiencing at least one dysphagia-associated behavior, such as coughing or gagging, increased from 73.9% to 85.3% (p = .030) while consuming liquids and from 36.2% to 73.5% (p = .001) while consuming solids. Based on weight-for-age z-scores, the percentage of children who were moderately or severely underweight increased from 42.5% to 46.1% over the 4 years but was not statistically significant. Children exclusively using an enteral feeding method had significantly decreased odds of being underweight at assessments 3, 4, and 5. CONCLUSIONS: These data highlight the ongoing and increasing challenges of feeding young children with CZS. Our findings elucidate the physiological reasons children with CZS may be underweight and point to intervention targets, such as enteral feeding, to improve their feeding practices.

GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat.

GM1-gangliosidosis (GM1) is a rare neurodegenerative disorder leading to early mortality and causing progressive decline of physical skills and cerebral functioning. No approved treatment for GM1 exists. In this study-the first to explore priorities of parents of subjects with pediatric onset forms of GM1-we address a crucial gap by characterizing symptoms most critical to caregivers of children with GM1 to treat. Our two-part, mixed-methods approach began with focus groups, followed by interviews with a distinct set of parents. Interviews included a prioritization activity that used best-worst scaling. Quantitative data were analyzed descriptively. Qualitative data were analyzed using thematic analysis and rapid analysis process. Parents prioritized the symptoms they believed would increase their child's lifespan and improve their perceived quality of life (QoL); these symptoms focused on communicating wants/needs, preventing pain/discomfort, getting around and moving one's body, and enhancing eating/feeding. Although lifespan was highly valued, almost all parents would not desire a longer lifespan without acceptable child QoL. Parents indicated high caregiver burden and progressive reduction in QoL for children with GM1. This novel study of caregiver priorities identified important symptoms for endpoints' selection in patient-focused drug development in the context of high disease impact and unmet treatment needs.

Preparing newborn screening for the future: a collaborative stakeholder engagement exploring challenges and opportunities to modernizing the newborn screening system.

BACKGROUND AND OBJECTIVES: Projections that 60 transformative cell and gene therapies could be approved by the U.S. Food and Drug Administration (FDA) within 10 years underscore an urgent need to modernize the newborn screening (NBS) system. This study convened expert stakeholders to assess challenges to the NBS system and propose solutions for its modernization. METHODS: NBS stakeholders (researchers, clinicians, state NBS leaders, advocates, industry professionals, and current/former advisory committee members) participated in one of five mixed-stakeholder panel discussions. Prior to panels, participants completed a survey in which they reviewed and ranked NBS challenges generated from relevant literature. During panels, participants deliberated on challenges and explored potential solutions. Pre-panel survey data were analyzed descriptively. Data from panel discussions were analyzed using a rapid qualitative analysis. RESULTS: Median scores of the ranked challenges (1 = most important) reveal the top three most important barriers to address: critical missing data for NBS decision-making (Median = 2), burden on state NBS laboratories (Median = 3), and the amount of time required for state-level implementation of screening for new conditions (Median = 4). Panel discussions were rooted in recurring themes: the infant's well-being should be the focal point; the transformative therapy pipeline, although undeniably positive for individuals with rare diseases, is a threat to NBS capacity; decisions about modernizing NBS should be evidence-based; additional financial support is required but not sufficient for modernization; and modernization will require participation of multiple NBS stakeholders. This final overarching theme is reported in depth, including expertise, coordination, and collaboration challenges facing NBS and novel approaches to oversight, partnership, and coordination that were suggested by participants. CONCLUSIONS: This study engaged representatives from multiple stakeholder groups to generate potential solutions to challenges facing NBS in the United States. These solutions provide a rich starting point for policy makers and other stakeholders who desire to maximize the impact of new transformative therapies for babies, families, and society.

Outcomes of Physicians' Communication Goals During Patient Interactions.

During healthcare visits, physicians may set communication goals such as providing their patient with information about treatment; however, no recommendations exist regarding which goals physicians should prioritize during their often-brief interactions with patients. Two studies examined five communication goals (providing information, reducing distress, increasing patient satisfaction, increasing patient adherence, and encouraging hope) in the context of physician-patient interactions and their relationship with patient and physician outcomes. In Study 1, audio-recordings of physician-patient interactions were coded by research assistants for goal-related content. In Study 2, patients reported their physician's use of each goal during the interaction. In both studies, patients and physicians reported visit outcomes. Within-study meta-analyses suggested that the goal of reducing distress, but not the other goals, was consistently related to improved outcomes in Study 1. All goals were related to improved outcomes in Study 2. We then computed sample-size-weighted meta-analytic effects of each goal on each outcome across both studies. These results suggested that all of the goals had similar-sized positive relationships with patient and physician outcomes across studies. These findings suggest that physicians should generally approach consultations with communication goals in mind, but prioritizing efforts to reduce distress may be particularly beneficial.

Preferences for Accessing Electronic Health Records for Research Purposes: Views of Parents Who Have a Child With a Known or Suspected Genetic Condition.

OBJECTIVES: The purpose of this study was to examine parental preferences for researchers accessing their child's electronic health record across 3 groups: those with a child with (1) a known genetic condition (fragile X syndrome FXS), (2) a suspected genetic condition (autism spectrum disorder [ASD]), and (3) no known genetic condition (typically developing). METHODS: After extensive formative work, a discrete choice experiment was designed consisting of 5 attributes, each with 2 or 3 levels, including (1) type of researcher, (2) the use of personally identifiable information, (3) the use of sensitive information, (4) personal importance of research, and (5) return of results. Stratified mixed logit and latent class conditional logit models were examined. RESULTS: Parents of children with FXS or ASD had relatively higher preferences for research conducted by nonprofits than parents of typically developing children. Parents of children with ASD also preferred research using non-identifiable and nonsensitive information. Parents of children with FXS or ASD also had preferences for research that was personally important and returned either summary or individual results. Although a few child and family characteristics were related to preferences, they did not overall define the subgroups of parents. CONCLUSIONS: Although electronic health record preference research has been conducted with the general public, this is the first study to examine the opinions of parents who have a child with a known or suspected genetic condition. These parents were open to studies using their child's electronic health record because they may have more to gain from this type of research.

Ethical, Legal, and Social Issues Related to the Inclusion of Individuals With Intellectual Disabilities in Electronic Health Record Research: Scoping Review.

BACKGROUND: Data from electronic health records (EHRs) are increasingly used in the field of genetic research to further precision medicine initiatives. However, many of these efforts exclude individuals with intellectual disabilities, which often stem from genetic conditions. To include this important subpopulation in EHR research, important ethical, legal, and social issues should be considered. OBJECTIVE: The goal of this study was to review prior research to better understand what ethical, legal, and social issues may need further investigation when considering the research use of EHRs for individuals with genetic conditions that may result in intellectual disability. This information will be valuable in developing methods and best practices for involving this group in research given they are considered a vulnerable population that may need special research protections. METHODS: We conducted a scoping review to examine issues related to the use of EHRs for research purposes and those more broadly associated with genetic research. The initial search yielded a total of 460 unique citations. We used an evaluative coding process to determine relevancy for inclusion. RESULTS: This approach resulted in 59 articles in the following areas: informed consent, privacy and security, return of results, and vulnerable populations. The review included several models of garnering informed consent in EHR or genetic research, including tiered or categorical, blanket or general, open, and opt-out models. Second, studies reported on patients' concerns regarding the privacy and security of EHR or genetic data, such as who has access, type of data use in research, identifiability, and risks associated with privacy breach. The literature on return of research results using biospecimens examined the dissension in the field, particularly when sharing individualized genetic results. Finally, work involving vulnerable populations highlighted special considerations when conducting EHR or genetic research. CONCLUSIONS: The results frame important questions for researchers to consider when designing EHR studies, which include individuals with intellectual disabilities, including appropriate safeguards and protections.

Chronic disease management perspectives of colorectal cancer survivors using the Veterans Affairs healthcare system: a qualitative analysis.

BACKGROUND: Colorectal cancer (CRC) is the third most commonly diagnosed cancer in the US. CRC survivors may have complex healthcare needs requiring care from both specialists and primary care. Our objective was to understand how CRC survivors perceive their survivorship care, especially management of their cardiovascular-related chronic diseases. METHODS: We identified patients diagnosed with non-metastatic CRC between 10/1/2007 and 12/31/2015 at Veterans Affairs Medical Centers in North Carolina or Virginia. In 2016, we conducted telephone-based, semi-structured interviews to assess survivors' experiences with cancer survivorship and changes in health priorities. Interviews were conducted until thematic saturation was reached. Interviews were audio-recorded, transcribed, and coded. RESULTS: The 25 participants were, on average, 64 years old and approximately 4 years post-CRC diagnosis at the time of interview; most were white (60%), male (92%), and diagnosed with colon cancer (64%) as opposed to rectal cancer. CRC survivors reported: (1) a shift in focus from surviving cancer to reducing cardiovascular disease risk (e.g., by managing weight); (2) challenges with taking medications for CVD-related conditions; (3) new recognition of the importance of engaging with primary care providers. CONCLUSIONS: Experiences with cancer shapes how survivors view their health. Management of cardiovascular-related chronic disease is important to veteran CRC survivors. There is a need to deliver cardiovascular disease risk reduction programs tailored for CRC survivors.

Cost-effectiveness of Community-Based Minigrants to Increase Physical Activity in Youth.

CONTEXT: American youth are insufficiently active, and minigrant programs have been developed to facilitate implementation of evidence-based interventions in communities. However, little is known about the cost-effectiveness of targeted minigrant programs for the implementation of physical activity (PA) promoting strategies for youth. OBJECTIVE: To determine the cost-effectiveness of a minigrant program to increase PA among youth. DESIGN: Twenty community grantees were pair-matched and randomized to receive funding at the beginning of year 1 (2010-2011) or year 2 (2011-2012) to implement interventions to increase PA in youth. Costs were calculated by examining financial reports provided by the granting organization and grantees. SETTING: Twenty counties in North Carolina. PARTICIPANTS: A random sample of approximately 800 fourth- to eighth-grade youth (per year) from the approximately 6100 youth served by the 20 community-based interventions. MAIN OUTCOME MEASURE: Cost-effectiveness ratios (CERs) were calculated at the county and project levels to determine the cost per child-minute of moderate-to-vigorous PA (MVPA) increased by wave. Analyses were conducted utilizing cost data from 20 community grantees and accelerometer-derived PA from the participating youth. RESULTS: Of the 20 participating counties, 18 counties displayed increased youth MVPA between at least 2 waves of observation. Of those 18 counties, the CER (US dollars/MVPA minutes per day) ranged from $0.02 to $1.86 (n = 13) in intervention year 1, $0.02 to $6.19 (n = 15) in intervention year 2, and $0.02 to $0.58 (n = 17) across both years. CONCLUSION: If utilized to implement effectual behavior change strategies, minigrants can be a cost-effective means of increasing children's MVPA, with a low monetary cost per minute of MVPA.

Expectations in the context of gallbladder and hernia surgery: a descriptive report.

OBJECTIVE: Patients' expectations predict important health outcomes. The goal of this study is to describe the types of expectations that hernia and gallbladder patients have for the outcomes of their surgery and to identify relationships between these expectations and both patient- and surgeon-reported variables. DESIGN: Patients (N = 143) at an out-patient surgery clinic completed self-report questionnaires before and after a pre-surgical consultation in which they learned they would be scheduled for surgery. After indicating their general expectations for their surgical outcomes (positive or negative), patients reported specific outcome expectations, which were coded into eight categories: functional improvement, symptom relief, quality-of-life improvement, emotional improvement, general health, no effect expected, no response (or unsure) and negative expectations. RESULTS: Functional improvement and symptom relief were the most common types of expectations mentioned by patients. A key finding was a significant difference in the pattern of expectations provided by Hispanic versus non-Hispanic patients, as well as between patients across the range of health literacy. CONCLUSIONS: Patients undergoing hernia and gallbladder surgery have a variety of expectations, and these expectations vary across demographic groups. Patients who are particularly vulnerable to poor physician communication have positive but diffuse expectations.

Patients' anxiety and hope: predictors and adherence intentions in an acute care context.

CONTEXT: Good patient-provider interactions promote satisfaction with health care, adherence to treatment recommendations and improved health. However, little research has examined patients' emotions and how they relate to patients' experiences with health care and their adherence intentions in acute care settings. OBJECTIVE: This study examined the predictors and consequences of two emotions pertinent to the uncertainty of acute health-care experiences: anxiety and hopefulness. DESIGN: Patients who arrived at a general surgery clinic for an initial consultation were interviewed before and after the consultation. Prior to the consultation with a physician, patients completed baseline measures of their emotional state. Following the consultation, patients completed measures of understanding of the information provided by the surgeon, perceived control over treatment decisions, adherence intentions and emotional state. RESULTS: Understanding and control predicted less anxiety and greater hopefulness, compared to baseline. Only hopefulness predicted adherence intentions. These relationships remained even after controlling for characteristics of the patients and interactions. DISCUSSION: These findings identify aspects of psychosocial care that are critical for promoting positive (and mitigating negative) emotional states in patients. Even in a brief consultation in a clinic setting, physicians may be able to improve patients' emotional state by promoting a sense of control and clarifying information they convey, and patients' positive emotional states may be critical for raising adherence intentions.

Predictors of genetic testing decisions: a systematic review and critique of the literature.

Genetic testing is increasingly available in medical settings and direct-to-consumer. However, the large and growing literature on genetic testing decisions is rife with conflicting findings, inconsistent methodology, and uneven attention across test types and across predictors of genetic testing decisions. Existing reviews of the literature draw broad conclusions but sacrifice nuanced analysis that with a closer look reveals far more inconsistency than homogeny across studies. The goals of this paper are to provide a systematic review of the empirical work on predictors of genetic testing decisions, highlight areas of consistency and inconsistency, and suggest productive directions for future research. We included all studies that provided quantitative analysis of subjective (e.g., perceived risk, perceived benefits of testing) and/or objective (e.g., family history, sociodemographic variables) predictors of genetic testing interest, intentions, or uptake, which produced a sample of 115 studies. From this review, we conclude that self-reported and test-related (as opposed to disorder-related or objective) predictors are relatively consistent across studies but that theoretically-driven efforts to examine testing interest across test types are sorely needed.

Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening.

Individuals with severe combined immunodeficiency (SCID), a group of rare, genetic conditions, are at risk for life-threatening illnesses unless diagnosed and treated early. Even after early identification through newborn screening, parents of children with SCID embark on a complex journey marked by a variety of informational and emotional support needs. This paper explored the types of uncertainties experienced by parents of a child with SCID diagnosed through newborn screening. We conducted semi-structured interviews with 26 parents to discuss the types of uncertainty experienced, including scientific, practical, personal, and existential. Each interview was recorded, transcribed, and coded. Using deductive and inductive content analysis, we describe the type of uncertainty experienced across each stage of the SCID journey. We found that uncertainties in the SCID journey were chronic and multifaceted. Some uncertainties were more prominent at certain points of the journey whereas others spanned multiple stages. Parents expressed a variety of negative emotional reactions to uncertainty, from anxiety, worry, and fear, to doubt, guilt, or grief, and even anger, frustration, and depression. The results speak to the need for healthcare providers to prepare parents for the SCID journey by providing resources to help manage and cope with uncertainty.

Specificity of Early Childhood Hyperphagia Profiles in Neurogenetic Conditions.

Hyperphagia is highly penetrant in Prader-Willi syndrome (PWS) and has increasingly been reported in other neurogenetic conditions (NGC). The Hyperphagia Questionnaire (HQ) was completed by caregivers of 4-8-year-olds with PWS (n = 17), Angelman syndrome (AS; n = 22), Williams syndrome (WS; n = 25), or low-risk controls (LRC; n = 35). All NGC groups were significantly elevated in HQ Total and Behavior scores compared to LRC. Only AS and WS were significantly elevated in the Drive domain, and only PWS in the Severity domain. After controlling for externalizing behavior, HQ Total scores were higher for PWS relative to other groups. Hyperphagic symptoms may not differentiate PWS from other NGCs in early childhood. However, hyperphagic phenotypes may be most severe in PWS. Further investigation of these profiles may inform etiology and syndrome-specific treatments.

Parental coping with uncertainties along the severe combined immunodeficiency journey.

BACKGROUND: Severe combined immunodeficiency (SCID) is a group of rare genetic disorders that cause disruption in immune system functioning. Parents of children with SCID experience many uncertainties related to their child's diagnosis, treatment, recovery, and quality of life. To fully understand parents' experiences throughout their SCID journey, it is important to explore the stressors generated by such uncertainties and how parents cope with these stressors. METHODS: We conducted 26 in-depth interviews with parents whose child was diagnosed with SCID or a SCID-like condition through newborn screening. The interviews explored uncertainties related to their child's diagnosis and how parents coped with these uncertainties. Transcripts were generated from the interviews and analyzed using an inductive content analysis approach which included data immersion, generation and assignment of codes, and interpretation. RESULTS: Parents used a variety of behavioral, cognitive, and affective coping strategies which evolved throughout their SCID journeys. Some parents reported coping by playing an active role in their child's treatment, which included reaching out to other SCID parents or seeking second medical opinions. Other types of coping included establishing house hygiene rules, thinking positively about the child's treatment progress, and relying on family members for help. These coping strategies were both deliberate and intuitive. Participants also described their struggles in coping with stressors related to their child's health and survival. They reported difficulty in processing their emotions and experiencing denial and guilt related to their child's diagnosis. Some parents adapted to ongoing uncertainties through such strategies as positive thinking, self-reflection, and relying on family and community. With successful adaptation, parents emphasized that they continue to use these strategies today. CONCLUSION: Our assessment revealed that parents of children diagnosed with SCID use a variety of behavioral, cognitive, and affective approaches to cope with SCID uncertainties. Although parents reported challenges in coping with SCID uncertainties, they also reported finding ways to overcome these stressors and establish patterns of effective coping. Findings from our study can serve as a guide for parents whose child was newly diagnosed with SCID and for providers such as social workers, genetic counselors, and psychologists.

Using a Patient Portal to Increase Enrollment in a Newborn Screening Research Study: Observational Study.

BACKGROUND: Many research studies fail to enroll enough research participants. Patient-facing electronic health record applications, known as patient portals, may be used to send research invitations to eligible patients. OBJECTIVE: The first aim was to determine if receipt of a patient portal research recruitment invitation was associated with enrollment in a large ongoing study of newborns (Early Check). The second aim was to determine if there were differences in opening the patient portal research recruitment invitation and study enrollment by race and ethnicity, age, or rural/urban home address. METHODS: We used a computable phenotype and queried the health care system's clinical data warehouse to identify women whose newborns would likely be eligible. Research recruitment invitations were sent through the women's patient portals. We conducted logistic regressions to test whether women enrolled their newborns after receipt of a patient portal invitation and whether there were differences by race and ethnicity, age, and rural/urban home address. RESULTS: Research recruitment invitations were sent to 4510 women not yet enrolled through their patient portals between November 22, 2019, through March 5, 2020. Among women who received a patient portal invitation, 3.6% (161/4510) enrolled their newborns within 27 days. The odds of enrolling among women who opened the invitation was nearly 9 times the odds of enrolling among women who did not open their invitation (SE 3.24, OR 8.86, 95% CI 4.33-18.13; P<.001). On average, it took 3.92 days for women to enroll their newborn in the study, with 64% (97/161) enrolling their newborn within 1 day of opening the invitation. There were disparities by race and urbanicity in enrollment in the study after receipt of a patient portal research invitation but not by age. Black women were less likely to enroll their newborns than White women (SE 0.09, OR 0.29, 95% CI 0.16-0.55; P<.001), and women in urban zip codes were more likely to enroll their newborns than women in rural zip codes (SE 0.97, OR 3.03, 95% CI 1.62-5.67; P=.001). Black women (SE 0.05, OR 0.67, 95% CI 0.57-0.78; P<.001) and Hispanic women (SE 0.07, OR 0.73, 95% CI 0.60-0.89; P=.002) were less likely to open the research invitation compared to White women. CONCLUSIONS: Patient portals are an effective way to recruit participants for research studies, but there are substantial racial and ethnic disparities and disparities by urban/rural status in the use of patient portals, the opening of a patient portal invitation, and enrollment in the study. TRIAL REGISTRATION: ClinicalTrials.gov NCT03655223; https://clinicaltrials.gov/ct2/show/NCT03655223.

Caregivers' assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome.

OBJECTIVES: Sanfilippo syndrome is a rare multisystem disease with no approved treatments. This study explores caregiver perspectives on the most impactful symptoms and patient-relevant clinical outcomes assessments. The pediatric onset and progressive neurodegenerative nature of Sanfilippo limits use of self-report in clinical research. This study obtains Sanfilippo caregiver data to support the selection of fit-for-purpose and patient-relevant clinical outcome assessments (COAs). METHODS: We conducted an asynchronous online focus group (n = 11) followed by individual interviews with caregivers (n = 19) of children with Sanfilippo syndrome. All participants reported on the impact of disease symptoms and level of unmet treatment need across Sanfilippo symptom domains. Focus group participants reviewed existing assessments relating to 8 symptom domains (15 total assessments) and provided feedback on meaningfulness and relevance. Focus group data were used to reduce the number of assessments included in subsequent interviews to 8 COAs across 7 symptom domains: communication, eating, sleep, mobility, pain, behavior and adapting. Interview respondents provided data on meaningfulness and relevance of assessments. Data were coded using an item-tracking matrix. Data summaries were analyzed by caregivers' responses regarding meaningfulness; relevance to Sanfilippo syndrome; and based on caregiver indication of missing or problematic subdomains and items. RESULTS: Participants' children were 2-24 years in age and varied in disease progression. Caregivers reported communication and mobility as highly impactful domains with unmet treatment needs, followed closely by pain and sleep. Domains such as eating, adaptive skills, and behaviors were identified as impactful but with relatively less priority, by comparison. Participants endorsed the relevance of clinical outcome assessments associated with communication, eating, sleep, and pain, and identified them as highly favorable for use in a clinical trial. Participants specified some refinements in existing assessments to best reflect Sanfilippo symptoms and disease course. DISCUSSION: The identification of impactful symptoms to treat and relevant and meaningful clinical outcome assessments supports patient-focused drug development. Our results inform targets for drug development and the selection of primary and secondary outcome assessments with high meaningfulness and face validity to Sanfilippo syndrome caregivers. Assessments identified as less optimal might be refined, replaced, or remain if the clinical trial necessitates.

Expert Evaluation of Strategies to Modernize Newborn Screening in the United States.

Importance: Novel therapies, including cell and gene therapies, can radically improve outcomes among patients with rare disorders, especially if provided early. Newborn screening (NBS) could support early access to novel therapies, but the speed of new therapy development is a disruptive event for which the public health NBS system and state newborn screening programs are unprepared. Objective: To identify and evaluate possible solutions for modernizing NBS. Design, Setting, and Participants: In this survey study, NBS experts representing clinical research, federal or state advisory boards, patient advocacy groups, industry, or state laboratories completed an online survey in which they considered 20 potential solutions for modernizing NBS and rated each. Exposures: Participants considered 20 potential solutions in the 5 following domains: (1) timeliness of disorder review, (2) alternative mechanisms to offer screening for new disorders not currently part of NBS, (3) expanded data collection, (4) support for states, and (5) emerging methods of screening and their consequences. Main Outcomes and Measures: Mean ratings for each solution on efficacy, acceptability, feasibility, and sustainability. Results: The survey was completed by 40 NBS experts (median [range] age, 54 [37-73] years; 22 [55.0%] women). Participants acknowledged that substantial change is needed to prepare the NBS system for rapid expansion of novel therapies; on a scale of 0 (no change) to 10 (extensive change), the median (range) score was 8 (2-10), with 18 respondents (45.0%) believing that the NBS would need many new components or an entirely new system to accommodate the changes. All solutions for modernization were considered potentially efficacious by at least 23 respondents (57.5%). The 2 most strongly endorsed were to establish mechanisms for cross-state data coordination for provisional disorders (38 respondents [95.0%]) and create a network of regional screening laboratories (36 [90.0%]). These were closely followed by aligning programs across federal agencies (35 [87.5%]), expanding funding for research (34 [85.0%]), expanding funding to states (34 [85.0%]), building capacity to identify genetic variants and an associated clinical database (34 [85.0%]), and conducting surveillance to study long-term outcomes (34 [85.0%]). Conclusions and Relevance: In this study, there was consensus among experts that NBS needs to change if the system is to be prepared for a rapid increase in transformative therapies. To our knowledge, this is the first systematic inventory of potential solutions for modernizing NBS and expert perceptions of each. The findings suggest that the modernization of NBS will require the integration of highly rated solutions, strategic planning, and coordination among multiple stakeholders.

Food and Non-Food-Related Behavior across Settings in Children with Prader-Willi Syndrome.

This study sought to describe food- and non-food-related behaviors of children aged 3 to 18 years with Prader-Willi syndrome (PWS) in home and school settings, as assessed by 86 parents and 63 teachers using 7 subscales of the Global Assessment of Individual's Behavior (GAIB). General Behavior Problem, Non-Food-Related Behavior Problem, and Non-Food-Related Obsessive Speech and Compulsive Behavior (OS/CB) scores did not differ significantly between parent and teacher reports. Food-Related Behavior Problem scores were higher in parent versus teacher reports when the mother had less than a college education (difference of 13.6 points, 95% Confidence Interval (CI) 5.1 to 22). Parents assigned higher Food-Related OS/CB scores than teachers (difference of 5.7 points, 95% CI 2.4 to 9.0). Although teachers reported fewer Food-Related OS/CB, they scored overall OS/CB higher for interfering with daily activities compared with parents (difference of 0.9 points, 95% CI 0.4 to 1.4). Understanding how behaviors manifest in home and school settings, and how they vary with socio-demographic and patient characteristics can help inform strategies to reduce behavior problems and improve outcomes.

Preferences for the research use of electronic health records among young adults with fragile X syndrome or autism spectrum disorder.

BACKGROUND: Health researchers are increasingly using electronic health records (EHRs) to study the health care needs of people with neurodevelopmental disorders (NDDs). However, little is known about the preferences of people with NDDs for sharing EHRs for research. OBJECTIVE: To explore preferences for sharing EHRs for research among young adults ages 18-40 who make their own legal decisions and who have autism spectrum disorder (ASD), fragile X syndrome (FXS), or no NDDs. METHODS: We conducted a qualitative study with seven focus groups: 2 ASD groups, 3 FXS groups, and 2 no-NDD groups. We asked participants about factors that could affect their willingness to share their EHRs for research: type of organization, type of information, study purpose, duration, contact frequency, return of results, benefits, and risks. We analyzed the qualitative data using directed content analysis. RESULTS: Participants with NDDs valued personally relevant and directly beneficial EHR research. Participants with NDDs expressed willingness to share sensitive data if the study was personally relevant. Most participants wanted to receive results, but only participants with FXS indicated it would affect their willingness to participate. Participants were concerned about privacy risks, discrimination, researcher misconduct, and financial conflicts of interest. CONCLUSION: This study provides initial evidence suggesting that young adults with NDDs prefer EHR research that is personally relevant, benefits themselves and their communities, and is conducted in the context of trusting, reciprocal participant-researcher relationships. The findings point to the need for researchers to improve the informed consent process and to better engage individuals with NDDs in research.

"Just tell me what's going on": The views of parents of children with genetic conditions regarding the research use of their child's electronic health record.

OBJECTIVE: The purpose of this study was to understand the ethical, legal, and social issues described by parents of children with known or suspected genetic conditions that cause intellectual and developmental disabilities regarding research use of their child's electronic health record (EHR). MATERIALS AND METHODS: We conducted 4 focus groups with parents of children with a known (n = 12) or suspected (n = 11) genetic condition, as well as 2 comparison groups with parents who had a child with no known genetic condition (n = 15). Focus group transcripts were coded and analyzed using directed content analysis. RESULTS: After weighing the risks and benefits, parents of children with known or suspected genetic conditions were willing to share their child's EHR for research studies under certain conditions. Preferences were for studies conducted by universities or nonprofits that might benefit their child or others with the same condition. Parents also valued return of research results. DISCUSSION: Trust, transparency, altruism, and concerns about privacy emerged as factors that affect parents' willingness to allow research use of their child's EHR. CONCLUSION: Researchers should consider how to build trust with parents by increasing transparency of the research process and explaining specifically how they will ensure the confidentiality of EHR data.