Support, information, and integration of genetics for children with congenital lower limb deficiencies in British Columbia, Canada

Abstract

Objectives Children and families affected by congenital limb deficiencies (CLD) require a unique level of emotional support from diagnosis through to adolescence. The following study aims to collect data on Canadian paediatric patients affected by a CLD followed at BC Children’s Hospital (BCCH), Department of Orthopaedics. Methods Parents of children with a CLD were asked to complete a written questionnaire examining their experiences. Qualitative and quantitative data were collected concerning parent satisfaction with patient referrals, emotional support, and knowledge of their child’s diagnosis. Results Twenty-five completed questionnaires were returned. Fifty per cent of the parents reported they were either very satisfied, or satisfied, with the emotional support provided by health care providers (HCPs). Twenty-five per cent of the parents were unsatisfied with the emotional support received by HCPs. Forty-eight per cent of the parents could not recall the specific name of their child’s diagnosis; 20% of the parents reported their child did not have diagnosis. All the patients in our study had received a clinical diagnosis. Twenty-eight per cent of the parents in this study were also seen in medical genetics. Conclusions Families require additional resources for emotional support, peer support, and referrals to support organizations. Gaps in parent knowledge regarding their child’s CLD suggest the need for formalized communication strategies for HCPs. Furthermore, patients with CLDs and their families may benefit from improved communication between orthopaedic and medical genetic services at the time of diagnosis. Integration of genetic counsellors may improve emotional supports and education for families with regards to testing and reproductive planning.

Genomic Health Literacy Interventions in Pediatrics: Scoping Review

“…To chart and extract data from the articles selected for the scoping review, an extraction criterion was developed by 2 reviewers (AG and MT) to extract information from each publication about the study country, city, urban or not urban geography, population, sample size, age of participants, pediatric disease types, duration, demographic information, design, methodology, journal of publication, and results of the study (Multimedia Appendix 2 [3,12,16,[33][34][35][36][37][38][39][40][41][42][43]).…”

“…Of the 14 studies, 5 (36%) studies included populations where children were clinically diagnosed with various genetic conditions [16,[33][34][35][36]; 4 (29%) studies had populations that were not diagnosed with an illness [12,[37][38][39]; 1 (7%) study included children who were suspected to have a genetic condition but not diagnosed [40]; 1 (7%) study included children who were hospitalized for various reasons [3]; and the remaining 3 (21%) studies reported pediatric populations with illnesses such as cancer [41], congenital heart defects [42], and congenital lower limb deficiencies [43]. Most (11/14, 79%) of the studies selected for the review were from the United States [3,12,[33][34][35][36][38][39][40][41][42], 14% (2/14) from Canada [16,43] and 7% (1/14) from the United Kingdom [37]. Table 1 presents the overview of the included studies.…”

“…Campbell et al [43] determine emotional supports, communication information, and implementation of genetics referrals…”

“…Of the 14 studies, 2 (14%) studies explored the hopes and attitudes toward receiving genomic information and support among parents of pediatric patients [40,43]. Khan et al [40] investigated the types of information used by adult patients and parents of pediatric patients who have a suspected genetic condition that has not been definitively explained or diagnosed.…”

“…Khan et al [40] investigated the types of information used by adult patients and parents of pediatric patients who have a suspected genetic condition that has not been definitively explained or diagnosed. Campbell et al [43] explored the emotional supports, communication information, and implementation of genetic referrals among parents of children with congenital heart defects. Khan et al [40] found that the most common kinds of information that parents hoped to learn from diagnostic sequencing were the cause of illness (119/269, 44.2%), directions for illness management (98/269, 36.4%), diagnosis (72/269, 26.8%), disease risk for family members (62/269, 23%), helping others (31/269, 11.5%), advancing science (16/269, 5.9%), miscellaneous knowledge (14/269, 5.2%), prevention (8/269, 3%), and family planning (5/269, 1.9%).…”