The Experience of Parental Caregiving for Children With Medical Complexity
Children with medical complexity (CMC) have complex chronic conditions with significant functional impairment, contributing to high caregiving demand. This study seeks to explore impacts of parental caregiving for CMC. Fifteen caregivers of CMC followed at a tertiary care hospital participated in semi-structured interviews. Interviews were concurrently analyzed using a qualitative description framework until thematic saturation was reached. Codes were grouped by shared concepts to clarify emergent findings. Four affected domains of parental caregiver experience with associated subthemes (in parentheses) were identified: personal (identity, physical health, mental health), family (marriage, siblings, family quality of life), social (time limitations, isolating lived experience), and financial (employment, medical costs, accessibility costs). Despite substantial challenges, caregivers identified two core determinants of personal resilience: others' support (hands-on, interpersonal, informational, material) and a positive outlook (self-efficacy, self-compassion, reframing expectations). Further research is needed to understand the unique needs and strengths of caregivers for this vulnerable population.
Teicher J; Moore C; Esser K; Weiser N; Arje D; Cohen E; Orkin J
Clinical Pediatrics
2022
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1177/00099228221142102" target="_blank" rel="noreferrer noopener">10.1177/00099228221142102</a>
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity
Child; Female; Humans; Male; Reproducibility of Results; Child Preschool; Canada; Prospective Studies; Predictive Value of Tests; Genetic Testing/statistics & numerical data; Somatoform Disorders/diagnosis; Whole Genome Sequencing/statistics & numerical data
IMPORTANCE: Children with medical complexity (CMC) represent a growing population in the pediatric health care system, with high resource use and associated health care costs. A genetic diagnosis can inform prognosis, anticipatory care, management, and reproductive planning. Conventional genetic testing strategies for CMC are often costly, time consuming, and ultimately unsuccessful. OBJECTIVE: To evaluate the analytical and clinical validity of genome sequencing as a comprehensive diagnostic genetic test for CMC. DESIGN, SETTING, AND PARTICIPANTS: In this cohort study of the prospective use of genome sequencing and comparison with standard-of-care genetic testing, CMC were recruited from May 1, 2017, to November 30, 2018, from a structured complex care program based at a tertiary care pediatric hospital in Toronto, Canada. Recruited CMC had at least 1 chronic condition, technology dependence (child is dependent at least part of each day on mechanical ventilators, and/or child requires prolonged intravenous administration of nutritional substances or drugs, and/or child is expected to have prolonged dependence on other device-based support), multiple subspecialist involvement, and substantial health care use. Review of the care plans for 545 CMC identified 143 suspected of having an undiagnosed genetic condition. Fifty-four families met inclusion criteria and were interested in participating, and 49 completed the study. Probands, similarly affected siblings, and biological parents were eligible for genome sequencing. EXPOSURES: Genome sequencing was performed using blood-derived DNA from probands and family members using established methods and a bioinformatics pipeline for clinical genome annotation. MAIN OUTCOMES AND MEASURES: The primary study outcome was the diagnostic yield of genome sequencing (proportion of CMC for whom the test result yielded a new diagnosis). RESULTS: Genome sequencing was performed for 138 individuals from 49 families of CMC (29 male and 20 female probands; mean [SD] age, 7.0 [4.5] years). Genome sequencing detected all genomic variation previously identified by conventional genetic testing. A total of 15 probands (30.6%; 95% CI 19.5%-44.6%) received a new primary molecular genetic diagnosis after genome sequencing. Three individuals had novel diseases and an additional 9 had either ultrarare genetic conditions or rare genetic conditions with atypical features. At least 11 families received diagnostic information that had clinical management implications beyond genetic and reproductive counseling. CONCLUSIONS AND RELEVANCE: This study suggests that genome sequencing has high analytical and clinical validity and can result in new diagnoses in CMC even in the setting of extensive prior investigations. This clinical population may be enriched for ultrarare and novel genetic disorders. Genome sequencing is a potentially first-tier genetic test for CMC.
Costain G; Walker S; Marano M; Veenma D; Snell M; Curtis M; Luca S; Buera J; Arje D; Reuter MS; Thiruvahindrapuram B; Trost B; Sung WWL; Yuen RKC; Chitayat D; Mendoza-Londono R; Stavropoulos DJ; Scherer SW; Marshall CR; Cohn RD; Cohen E; Orkin J; Meyn MS; Hayeems RZ
JAMA Network Open
2020
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1001/jamanetworkopen.2020.18109" target="_blank" rel="noreferrer noopener">10.1001/jamanetworkopen.2020.18109</a>
Evaluating Curricular Modules in the Care of Children with Medical Complexity: A Mixed-Methods Randomized Controlled Trial
Huth K; Audcent T; Long-Gagne S; Sbrocchi AM; Weiser N; Miller D; Arje D; Major N; Issa K; Cohen E; Orkin J
Academic Pediatrics
2018
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/j.acap.2018.04.075" target="_blank" rel="noreferrer noopener">10.1016/j.acap.2018.04.075</a>