Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies.

Increasingly long and complex informed consents have yielded studies demonstrating comparatively low participant and with traditional face-to-face approaches. In parallel, interest in electronic consents for clinical and research genomics has steadily increased, yet limited data are available for trio-based genomic discovery studies. We describe the design, development, implementation, and validation of an electronic iConsent application for trio-based genomic research deployed to support genomic studies of cerebral palsy.

Reduced Postdischarge Incidents After Implementation of a Hospital-to-Home Transition Intervention for Children With Medical Complexity.

Objectives: Prior research suggests that errors occur frequently for patients with medical complexity during the hospital-to-home transition. Less is known about effective postdischarge communication strategies for this population. We aimed to assess rates of 30-day (1) postdischarge incidents and (2) readmissions and emergency department (ED) visits before and after implementing a hospital-to-home intervention.

Examining the Role of Sublingual Atropine for the Treatment of Sialorrhea in Patients with Neurodevelopmental Disabilities: A Retrospective Review.

Sialorrhea is common in children with neurodevelopmental disabilities (NDD) and is reported in >40% of children with cerebral palsy (CP). It causes a range of complications, including significant respiratory morbidity. This single-center retrospective chart review aims to document sublingual atropine (SLA) utilization to guide further study in establishing its role in secretion management for children with NDD.

Epilepsy and proxy-reported health-related quality of life in children and young people with non-ambulatory cerebral palsy.

Aim: To assess the association between epilepsy characteristics and proxy-reported health-related quality of life (HRQoL) in children and young people with non-ambulatory cerebral palsy (CP) and seizures.

Method: This was a cross-sectional study of 164 children and young people (74 females, 90 males; mean age 10 years 6 months, range 2-21 years, SD 5 years 5 months). Caregivers completed the Child Health Index of Life with Disabilities (CPCHILD) in an outpatient setting.

Women with cerebral palsy: A qualitative study about their experiences with sexual and reproductive health education and services.

Purpose: To explore the recalled experiences of women with CP regarding sexual health education and services they received.

Methods: Semi-structured interviews and focus groups were conducted at four academic tertiary hospitals with 33 adult women with CP. Templates were used to ask about four key content domains: appointment planning (including planning for a gynecologic exam), accessibility of services, experiences with providers, and recommendations for improvement.

Preoperative hematocrit and platelet count are associated with blood loss during spinal fusion for children with neuromuscular scoliosis.

Aim: To assess the relationship of preoperative hematology laboratory results with intraoperative estimated blood loss and transfusion volumes during posterior spinal fusion for pediatric neuromuscular scoliosis.

Methods: Retrospective chart review of 179 children with neuromuscular scoliosis undergoing spinal fusion at a tertiary children's hospital between 2012 and 2017. The main outcome measure was estimated blood loss.

Parent Perspectives on Short-Term Recovery After Spinal Fusion Surgery in Children With Neuromuscular Scoliosis.

Family perspectives on short-term recovery after spinal fusion for neuromuscular scoliosis are essential for improving patient outcomes. Semistructured interviews were conducted with 18 families of children within 3 months after spinal fusion performed August 2017 to January 2019 at a children's hospital. Interviews were recorded, transcribed, and coded line-by-line by 2 independent reviewers using grounded theory to identify themes.

Hospital resource use after hip reconstruction surgery in children with neurological complex chronic conditions.

Aim: To assess how co-occurring conditions influence recovery after hip reconstruction surgery in children with neurological complex chronic conditions (CCCs).

Method: This was a retrospective analysis of 4058 children age 4 years or older with neurological CCCs who underwent hip reconstructive surgery between 1st January 2015 and 31st December 2018 in 49 children's hospitals. The presence of co-occurring chronic conditions was assessed using the Agency for Healthcare Research Chronic Condition Indicator system.

Puberty and menarche in young females with cerebral palsy and intellectual disability: a qualitative study of caregivers' experiences.

Aim: To explore experiences of parents of young females with cerebral palsy (CP) and intellectual disability at the onset of puberty.

Method: This was a phenomenological qualitative study. We conducted phone interviews of parents of young females with CP and intellectual disability who had been seen in the CP center at a freestanding children's hospital within the prior 2 years.

Team Approach: The Perioperative Management of Reconstructive Hip Surgery for the Non-Ambulatory Child with Cerebral Palsy and Spastic Hip Disease.

Cerebral palsy (CP) is the leading cause of physical disability in children. Although physical disability is the hallmark of CP, children with CP also often have complex medical comorbidities. Spastic hip subluxation is the second most common orthopaedic deformity in children with CP, and the incidence increases with the severity of CP.

Visiting Jack: Mixed Methods Evaluation of a Virtual Home Visit Curriculum With a Child With Medical Complexity.

Background: There are limited training opportunities for pediatricians in caring for children with medical complexity (CMC) in the home and community. Prior studies have described a lack of comfort caring for CMC among pediatric residents.

Objective: 1) To evaluate the impact of participation in a virtual home visit curriculum on pediatric residents' confidence, knowledge, and application of knowledge in complex care; 2) to explore changes in perspectives relating to the care of CMC after participation in the curriculum.

Core Curricular Priorities in the Care of Children With Medical Complexity: A North American Modified Delphi Study.

Background: Previous studies of pediatric residents have identified educational gaps in caring for children with medical complexity. Training opportunities in complex care vary across residency programs. Defining core curricular topics in complex care is a priority in medical education.

Pediatric complex care and surgery comanagement: Preparation for spinal fusion.

The aim of this study is to assess the impact of preoperative comanagement with complex care pediatricians (CCP) on children with neuromuscular scoliosis undergoing spinal fusion. We performed chart review of 79 children aged 5-21 years undergoing spinal fusion 1/2014-6/2016 at a children's hospital, with abstraction of clinical documentation from preoperative health evaluations performed regularly by anesthesiologists and irregularly by a CCP. Preoperative referrals to specialists, labs, tests, and care plans needed last minute for surgical clearance were measured.

Parent-to-Parent Advice on Considering Spinal Fusion in Children with Neuromuscular Scoliosis.

Objectives: To convey advice from families whose children recently underwent spinal fusion to families whose children are under consideration for initial spinal fusion for neuromuscular scoliosis and to providers who counsel families on this decision.

Study Design: We interviewed 18 families of children who underwent spinal fusion between August 2017 and January 2019 at a freestanding children's hospital. We conducted phone interviews a median of 65 (IQR 51-77) days after surgery.

Associations of Coexisting Conditions with Healthcare Spending for Children with Cerebral Palsy.

Objective: To determine which coexisting conditions have the strongest associations with healthcare use and spending among children with cerebral palsy (CP).

Study Design: Retrospective analysis of 16 695 children ages 0-18 years with CP - identified with International Classification of Diseases, Ninth Revision, Clinical Modification codes - using Medicaid from January 1, 2013 to December 31, 2013 from 10 states in the Truven MarketScan Medicaid Database. Using generalized linear models, we assessed which coexisting conditions (including medical technology) identified with Agency for Healthcare Research and Quality's Chronic Condition Indicators had the strongest associations with total healthcare spending across the healthcare continuum.

Children with medical complexity: creating a framework for care based on the International Classification of Functioning, Disability and Health.

Children with medical complexity (CMC) comprise a growing sector of the pediatric population. They are characterized by having severe chronic multiple system conditions, functional limitations, and family needs. While CMC comprise 0.

Health Services and Health Care Needs Fulfilled by Structured Clinical Programs for Children with Medical Complexity.

Objective: To describe family-reported health service needs of children with medical complexity (CMC) and to assess which needs are more often addressed in a tertiary care center-based structured clinical program for CMC.

Study Design: Mailed survey to families of CMC enrolled in a structured-care program providing care coordination and oversight at 1 of 3 children's hospitals. Outcomes included receipt of 14 specific health service needs.

Opportunities lost and found: experiences of patients with cerebral palsy and their parents transitioning from pediatric to adult healthcare.

Purpose: To describe and define the experiences of adults with cerebral palsy (CP) and parents of adults with CP who have been involved in a transfer of physiatry care from pediatric to adult healthcare and to explore their experiences more generally in the transition from pediatric to adult services.

Methods: A qualitative research approach was used. Semi-structured focus group interviews were conducted with adults with CP (n=5) and parents of adults with CP (n=8) to explore the health care transition (HCT) process from pediatric to adult healthcare.

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.

Charged multivesicular body protein 1A (CHMP1A; also known as chromatin-modifying protein 1A) is a member of the ESCRT-III (endosomal sorting complex required for transport-III) complex but is also suggested to localize to the nuclear matrix and regulate chromatin structure. Here, we show that loss-of-function mutations in human CHMP1A cause reduced cerebellar size (pontocerebellar hypoplasia) and reduced cerebral cortical size (microcephaly). CHMP1A-mutant cells show impaired proliferation, with increased expression of INK4A, a negative regulator of stem cell proliferation.

Identifying what pediatric residents are taught about children and youth with special health care needs and the medical home.

Objective: To describe what and how pediatric residents in Massachusetts are taught about children and youth with special health care needs (CYSHCN) and the medical home.

Participants And Methods: Faculty members and residents at Massachusetts' 5 pediatric residency programs were interviewed to identify current curricula and teaching methods related to care of CYSHCN. In addition, residents were surveyed to quantify these concepts.

Embedding field research on mentored inclusive recreation in an urban population--the evolution of opening doors: project adventure.

Community-based interventions have greater relevance and a greater chance of success and sustainability when the community is collaboratively involved in the research process. Opening Doors: Project Adventure is a research project designed to evaluate the impact of community-based inclusive recreation, using supportive mentoring, on children and youth with disabilities and special health care needs (CYDS). The project has a central goal of engaging CYDS who are members of underrepresented minorities, including those who face linguistic, cultural, and/or financial barriers to participation.