A Quality Improvement Network for Interdisciplinary Training in Developmental Disabilities.

Children with developmental disabilities (DD), such as autism spectrum disorder (ASD), have complex health and developmental needs that require multiple service systems and interactions with various professionals across disciplines. The growing number of children and youth identified with ASD or DD, including anxiety and depression, has increased demand for services and need for highly qualified pediatric providers. Federally funded Leadership Education in Neurodevelopmental and related Disabilities (LEND) programs across the United States address today's health care shortages by providing comprehensive, interdisciplinary training to providers from multiple pediatric disciplines who screen, diagnose, and treat those with ASD and DD. Each LEND program develops training methods independently, including quality improvement efforts. In 2014, LEND programs began designing and validating common measures to evaluate LEND training. The LEND Program Quality Improvement (LPQI) Network was established in 2016. Participating LEND programs in the LPQI Network administer validated trainee self-report and faculty-observation measures that address skills in key competency domains of Interdisciplinary or Interprofessional Team Building, Family-Professional Partnerships, and Policy. This study reports data from faculty and trainees from 22 LEND programs that participated in the LPQI Network across the 5-year data collection period. The main outcome of this study was the change in trainee knowledge, skills, and attitudes scores in key competency domains across programs. Overall, trainees made significant knowledge, skills, and attitude gains based on both self-report and faculty observation scores for all 3 competency domains. Data demonstrate the value of LEND programs and feasibility of a national quality improvement approach to evaluate interdisciplinary training and systems-level improvement.

Newborn screening for neurodevelopmental diseases: Are we there yet?

In the US, newborn screening (NBS) is a unique health program that supports health equity and screens virtually every baby after birth, and has brought timely treatments to babies since the 1960's. With the decreasing cost of sequencing and the improving methods to interpret genetic data, there is an opportunity to add DNA sequencing as a screening method to facilitate the identification of babies with treatable conditions that cannot be identified in any other scalable way, including highly penetrant genetic neurodevelopmental disorders (NDD). However, the lack of effective dietary or drug-based treatments has made it nearly impossible to consider NDDs in the current NBS framework, yet it is anticipated that any treatment will be maximally effective if started early. Hence there is a critical need for large scale pilot studies to assess if and how NDDs can be effectively screened at birth, if parents desire that information, and what impact early diagnosis may have. Here we attempt to provide an overview of the recent advances in NDD treatments, explore the possible framework of setting up a pilot study to genetically screen for NDDs, highlight key technical, practical, and ethical considerations and challenges, and examine the policy and health system implications.

Quality of Life and Well-Being for Children and Youth With Special Health Care Needs and their Families: A Vision for the Future.

OBJECTIVES: To fulfill the promise of a life of dignity, autonomy, and independence for children and youth with special health care needs (CYSHCN) and their families, greater value must be assigned to meaningful outcomes, such as quality of life and well-being. METHODS: Despite decades of research, programs, and measurements addressing quality of life and well-being for CYSHCN and their families, there still is no consensus on how to measure, implement, or achieve them. RESULTS: As the US health care system strives to reach the health care goals of safe, efficient, effective, equitable, timely, and patient-centered care, youth and families must be equal partners at all levels of the health care system-from clinical decision making to designing and implementing programs and policies. CONCLUSIONS: The health care system must systematically measure the priorities of CYSHCN and their families. It also must incorporate data on quality of life and well-being when developing services, supports, and systems that help CYSHCN and their families to flourish rather than hindering them.

Aiming High: Monitoring Population Level Indicators of Child Wellbeing as a Goal of Community-Academic Partnerships.

INTRODUCTION: Community-academic partnerships (CAPs) aim to improve neighborhood population health. Though measuring the impact of partnership activities at a population level can be difficult, evaluating indicators of wellbeing may increase understanding of how communities benefit from CAPs. This study examined child health indicators over time in two low-income, predominantly Black/African American and Hispanic communities where partnerships between an academic child development center and community coalitions were formed with the intention of improving child well-being. METHODS: Trends in three child wellbeing indicators (graduation rates, kindergarten readiness, and proportion of youth in school and/or employed) were compared between two CAP communities and several neighboring comparison communities. Data between 2011 and 2017 were analyzed to calculate percent change from baseline and mapped using ArcGIS to visualize trends by zip code. Proportions of youth meeting benchmarks were also determined. RESULTS: Kindergarten readiness and high-school graduation rates improved in CAP communities but not in geographically proximal and socioeconomically similar comparison communities. No improvements were found in the proportion of youth in school or employed. DISCUSSION: This study revealed population-level indicators improved over time in CAP communities. Because community-level child health and wellbeing are influenced by many factors, this correlation is not proof of a causal relationship. Assessing population level indicators can nonetheless provide insight into the benefit of CAPs, and the commitment to monitoring such outcomes can itself advance how academic and community partners plan activities and set long-term goals.

Medical Student Choices Regarding Ventilator Allocation for People With Disabilities.

In the COVID-19 pandemic, concerns exist that ventilator triage policies may lead to discrimination against people with disabilities. This study evaluates whether preclinical medical students demonstrate bias towards people with disabilities during an educational ventilator-allocation exercise. Written student responses to a triage simulation activity were analyzed to describe ventilator priority rankings and to identify themes regarding disability. Disability status was not cited as a reason to withhold a ventilator. Key themes observed in ventilator triage decisions included life expectancy, comorbidities, and social worth. Although disability discrimination has historically been perpetuated by health care professionals, it is encouraging that preclinical medical students did not demonstrate explicit bias against people with disabilities in ventilator triage scenarios.

Ethics Education in COVID-19: Preclinical Medical Students' Approach to Ventilator Allocation.

Introduction COVID-19 has confronted clinicians with a potential need to ration ventilators. There is little guidance for training medical students to make such decisions in future practice. How students would make ventilator triage decisions remains unknown. Methods One hundred fifty-three medical students in 18 problem-based learning groups participated in a ventilator-rationing exercise in April 2020 as part of an ethics curriculum adapted in response to the COVID-19 pandemic. Students were provided with a prompt requiring fictional patients to be prioritized for ventilators in the face of scarce resources. The authors reviewed group responses, tallied triage criteria, and identified approaches to triage decisions. Results The most common triage criteria were patient comorbidities, clinical status, age/life stage, prognosis, life expectancy, and an individual's role in pandemic response. Additional criteria included quality of life, ventilator availability, public perception, and patient need. Students approached triage decisions by developing systems for triage, appealing to empirical evidence and academic literature, making value judgments, and identifying adjuncts and alternatives to triage. Discussion With minimal input from educators, students learned key ethical principles in triage medicine, recapitulated approaches to triage described in the clinical and bioethics literature, and suggested methods for tolerating distress of complex ethical decisions. Medical education should equip students to critically consider bioethical concerns in triage and prepare for possible moral distress during public health crises.

Assessment of Disparities Associated With a Crisis Standards of Care Resource Allocation Algorithm for Patients in 2 US Hospitals During the COVID-19 Pandemic.

Importance: Significant concern has been raised that crisis standards of care policies aimed at guiding resource allocation may be biased against people based on race/ethnicity. Objective: To evaluate whether unanticipated disparities by race or ethnicity arise from a single institution's resource allocation policy. Design, Setting, and Participants: This cohort study included adults (aged ≥18 years) who were cared for on a coronavirus disease 2019 (COVID-19) ward or in a monitored unit requiring invasive or noninvasive ventilation or high-flow nasal cannula between May 26 and July 14, 2020, at 2 academic hospitals in Miami, Florida. Exposures: Race (ie, White, Black, Asian, multiracial) and ethnicity (ie, non-Hispanic, Hispanic). Main Outcomes and Measures: The primary outcome was based on a resource allocation priority score (range, 1-8, with 1 indicating highest and 8 indicating lowest priority) that was assigned daily based on both estimated short-term (using Sequential Organ Failure Assessment score) and longer-term (using comorbidities) mortality. There were 2 coprimary outcomes: maximum and minimum score for each patient over all eligible patient-days. Standard summary statistics were used to describe the cohort, and multivariable Poisson regression was used to identify associations of race and ethnicity with each outcome. Results: The cohort consisted of 5613 patient-days of data from 1127 patients (median [interquartile range {IQR}] age, 62.7 [51.7-73.7]; 607 [53.9%] men). Of these, 711 (63.1%) were White patients, 323 (28.7%) were Black patients, 8 (0.7%) were Asian patients, and 31 (2.8%) were multiracial patients; 480 (42.6%) were non-Hispanic patients, and 611 (54.2%) were Hispanic patients. The median (IQR) maximum priority score for the cohort was 3 (1-4); the median (IQR) minimum score was 2 (1-3). After adjustment, there was no association of race with maximum priority score using White patients as the reference group (Black patients: incidence rate ratio [IRR], 1.00; 95% CI, 0.89-1.12; Asian patients: IRR, 0.95; 95% CI. 0.62-1.45; multiracial patients: IRR, 0.93; 95% CI, 0.72-1.19) or of ethnicity using non-Hispanic patients as the reference group (Hispanic patients: IRR, 0.98; 95% CI, 0.88-1.10); similarly, no association was found with minimum score for race, again with White patients as the reference group (Black patients: IRR, 1.01; 95% CI, 0.90-1.14; Asian patients: IRR, 0.96; 95% CI, 0.62-1.49; multiracial patients: IRR, 0.81; 95% CI, 0.61-1.07) or ethnicity, again with non-Hispanic patients as the reference group (Hispanic patients: IRR, 1.00; 95% CI, 0.89-1.13). Conclusions and Relevance: In this cohort study of adult patients admitted to a COVID-19 unit at 2 US hospitals, there was no association of race or ethnicity with the priority score underpinning the resource allocation policy. Despite this finding, any policy to guide altered standards of care during a crisis should be monitored to ensure equitable distribution of resources.

COVID-19 Trial Enrollment for Those Who Cannot Consent: Ethical Challenges Posed by a Pandemic.

The current coronavirus disease 2019 (COVID-19) pandemic has triggered an intense global research effort to inform the life-saving work of frontline clinicians who need reliable information as soon as possible. Yet research done in pressured circumstances can lead to ethical dilemmas, especially for vulnerable research subjects. We present the case of a child with neurocognitive impairment who is diagnosed with COVID-19 infection after presenting with fever and a seizure. The child lives in a group home and is in the custody of the state; her parents lost parental rights many years ago. Some members of the health care team want to enroll her in a randomized clinical trial evaluating an experimental treatment of COVID-19. For minor patients to enroll in this clinical trial, the institutional review board requires assent of patients and consent of guardians. An ethics consult is called to help identify relevant concerns in enrollment. In the accompanying case discussion, we address historical perspectives on research involving people with disabilities; proper management of research participation for people with disabilities including consent by proxy, therapeutic misconception, and other threats to the ethical validity of clinical trials; and the potentially conflicting obligations of researchers and clinicians.

Including ELSI research questions in newborn screening pilot studies.

BACKGROUND: The evidence review processes for adding new conditions to state newborn screening (NBS) panels rely on data from pilot studies aimed at assessing the potential benefits and harms of screening. However, the consideration of ethical, legal, and social implications (ELSI) of screening within this research has been limited. This paper outlines important ELSI issues related to newborn screening policy and practices as a resource to help researchers integrate ELSI into NBS pilot studies. APPROACH: Members of the Bioethics and Legal Workgroup for the Newborn Screening Translational Research Network facilitated a series of professional and public discussions aimed at engaging NBS stakeholders to identify important existing and emerging ELSI challenges accompanying NBS. RESULTS: Through these engagement activities, we identified a set of key ELSI questions related to (1) the types of results parents may receive through newborn screening and (2) the initiation and implementation of NBS for a condition within the NBS system. CONCLUSION: Integrating ELSI questions into pilot studies will help NBS programs to better understand the potential impact of screening for a new condition on newborns and families, and make crucial policy decisions aimed at maximized benefits and mitigating the potential negative medical or social implications of screening.

Foundation of the Newborn Screening Translational Research Network and its tools for research.

In the past 20 years, several policy activities were undertaken that shaped today's newborn screening (NBS) programs and their associated NBS research activities: the Newborn Screening Task Force Report; the Child Health Act of 2000, Screening for Heritable Disorders; the American College of Medical Genetics and Genomics' (ACMG's) Newborn Screening Uniform Panel; and the ACMG expert panel to examine the development of a national collaborative study system for rare genetic diseases. These activities helped conceptualize the Newborn Screening Translational Research Network (NBSTRN) infrastructure and lay the foundation for its current activities. After 10 years, NBSTRN has grown into an organization that provides tools and resources for researchers to conduct research relevant to NBS programs for rare diseases for which data has been siloed locally. Infrastructure includes tools for the analytical and clinical validation of screening tests; the collection, analysis, sharing, and reporting of longitudinal laboratory and clinical data on newborn-screened individuals; and a web-based tool that allows researchers to acquire dried blood spots available for use in research from state NBS programs. NBSTRN also provides tools for researchers such as informed consent templates, disease registries, state NBS profiles, and consultation on planning pilot studies. In time, the growing data will become a resource itself.

Whose Odyssey Is It? Family-Centered Care in the Genomic Era.

Despite a century of progress in medical knowledge, many diagnostic odysseys end in disappointment, especially when the child has a developmental disorder. In cases of autism and intellectual disability, relatively few children receive a specific diagnosis, and virtually none of those diagnoses lead to a specific medical treatment. Whole-genome or -exome sequencing offers a quantum leap in the diagnostic odyssey, in that we will always learn something from sequencing-sometimes much more than families bargained for, as discussed elsewhere in this special report. The trick is whether the knowledge gained will help the child and family. A family-centered approach gives families permission to choose but does not lay all of the responsibility on them. The goal is to pursue the degree of medical diagnostic evaluation that matches the family's values.

The Interprofessional/Family-Centered-Care Observation Rubric (I-FOR): Results of a Multicenter Study of a New Measure of Educational Outcomes.

Introduction The ability to provide family-centered care (FCC) and the ability to work in interprofessional care teams (IPC) are essential educational outcomes in graduate training programs. Lack of standardized measures leave programs to rely on idiosyncratic methods to monitor outcomes. We developed a faculty observation tool as part of an effort to create a national quality improvement database. We present evidence for the feasibility and validity of the faculty observation tool. Methods Trainees and faculty at four independent training programs participated. Nineteen maternal and child health disciplines were represented. Faculty supervisors rated trainees using the new measure (I-FOR), and trainees completed related subscales of a previously developed self-report measure, the core competency measure (CCM). Faculty provided qualitative feedback regarding the I-FOR in a separate questionnaire. Results Faculty (n = 78) completed the I-FOR on 86 trainees (86/92 = 93%) and reported satisfaction with completing the measures. The I-FOR demonstrated good internal consistency (Cronbach's alpha > 0.930) and test-retest reliability (IPC r = 0.862, FCC r = 0.823, p < 0.001). Greater than 95% of participants reported that the I-FOR accurately addressed the relevant skills for each practice domain. The I-FOR showed no correlation with the CCM. Significant improvements over time in the I-FOR ratings were demonstrated in three out of four programs. Discussion The I-FOR demonstrated good internal consistency and test-retest reliability. Faculty responses provide evidence for the feasibility and validity of the instrument. Self-report and faculty-observation measures both increased with training but were not correlated with each other.

An Ethical Conflict Between Parents and Clinician in a Child with a Language Delay.

CASE: A developmental-behavioral pediatrician evaluated a 2-year-old child for developmental delays. He determined that the child had mild expressive language delays; the child had an intelligible vocabulary of 20 words and at least 20 other words that he said unclearly. He said a few contracted 2-word phrases, such as "gimme" and "its ok." He was shy and generally clung to his parents who spoke softly and very little. His development in all other domains was normal. Hearing evaluation and the neurological examination were normal.The pediatrician provided suggestions to the parents in order to stimulate language and scheduled a follow-up appointment in 3 months. The parents asked him to refer the child for early intervention and write a letter to the US Immigration and Naturalization Service. They asked that the letter state that the child had a disabling condition and returning the child and his family to their country of origin would cause permanent harm to the child. The parents then gave the pediatrician a draft of a letter that had been prepared by an immigration lawyer.The physician explained to the parents that the child had a mild expressive language delay and that he would like to see the child again in 3 months before deciding on early intervention. He advised them to obtain a copy of his medical note from the medical records department. The parents insisted that he write the letter and got upset and called him "heartless" when the physician refused to write the letter.