Mixed method study of quality of life for children with trisomy 18 and 13 after cardiac surgery

Abstract

<jats:title>Abstract</jats:title><jats:sec id="S1047951120000013_as1" sec-type="other"><jats:title>Background and Objectives:</jats:title><jats:p>Cardiac surgical interventions for children with trisomy 18 and trisomy 13 remain controversial, despite growing evidence that definitive cardiac repair prolongs survival. Understanding quality of life for survivors and their families therefore becomes crucial. Study objective was to generate a descriptive summary of parental perspectives on quality of life, family impact, functional status, and hopes for children with trisomy 18 and trisomy 13 who have undergone heart surgery.</jats:p></jats:sec><jats:sec id="S1047951120000013_as2" sec-type="other"><jats:title>Methods:</jats:title><jats:p>A concurrent mixed method approach utilising PedsQL™ 4.0 Generic Core Parent Report for Toddlers or the PedsQL™ Infant Scale, PedsQL™ 2.0 Family Impact Module, Functional Status Scale, quality of life visual analogue scale, and narrative responses for 10 children whose families travelled out of state to access cardiac surgery denied to them in their home state due to genetic diagnoses.</jats:p></jats:sec><jats:sec id="S1047951120000013_as3" sec-type="other"><jats:title>Results:</jats:title><jats:p>Parents rated their child’s quality of life as 80/100, and their own quality of life as 78/100 using validated scales. Functional status was rated 11 by parents and 11.6 by providers (correlation 0.89). On quality of life visual analogue scale, all parents rated their child’s quality of life as “high” with mean response 92.7/100. Parental hopes were informed by realistic perspective on prognosis while striving to ensure their children had access to reaching their full potential. Qualitative analysis revealed a profound sense of the child’s relationality and valued life meaning.</jats:p></jats:sec><jats:sec id="S1047951120000013_as4" sec-type="other"><jats:title>Conclusion:</jats:title><jats:p>Understanding parental motivations and perceptions on the child’s quality of life has potential to inform care teams in considering cardiac interventions for children with trisomy 18 and trisomy 13.</jats:p></jats:sec>

Outcomes After Extracorporeal Life Support Cannulation in Pediatric Patients With Trisomy 13 and Trisomy 18

“…6,15 Equally important, quality of life surveys performed by parents of T13 and T18 children universally reported their child's quality of life as high with an average of 92.7 of 100 (range, 80-100) on validated scales. 4 Therefore, a new medical perspective is needed regarding treatment decisions for these complex patients and whether lifesustaining therapies should be offered or withheld, including the use of ECLS.…”

“…3 However, these children continue to be offered increasingly complex life-saving therapies, including repair of major cardiac defects, with increasing life span and acceptable quality of life. [4][5][6] Our objective was to survey the experience of the Extracorporeal Life Support Organization (ELSO) member institutions with ECLS in pediatric patients with a diagnosis of T13 or T18. We aimed to assess outcomes and complication rates of ECLS within this cohort to help direct further management regarding the utility of ECLS in T13 and T18 patients.…”

Discipline-Specific Perspectives on Caring for Babies with Trisomy 13 or 18 in the Neonatal Intensive Care Unit

“…27,32,46 The message of inevitable early death and poor quality of life is no longer a definitive black-and-white message for parents or providers, leaving both to engage with evolving care models. 4,29 Interview staff depicted a clear sense of uncertainly in prognostic outcomes, complicated by genetic and phenotypic variability and a shifting biomedical landscape. One quarter of all interviewed NICU staff (22% nurses, 21% APPs, and 44% neonatologists) mentioned that they grapple with uncertainty regarding biomedical interventions and technology escalations 1 ; citing professional desire to care without causing harm and to provide meaningful and quality care sensitive to family experiences as their actual black-andwhite principles, although the phenotypic variability and prognostic outcomes remained less clear.…”

“…27,28 Parents of surviving children with trisomy 13 or 18 who underwent cardiac surgery subjectively rate their child's quality of life as "high" with mean response 92.7/100 using validated age-adjusted quality of life scales. 29 The memory of a baby's quality of life matters especially for bereaved families, as bereaved mothers of neonates with trisomy 13 or 18 report "positive memories about their infants' quality of life." 30 While neonatologists and parents both recognize quality of life as important, neonatologists and parents notably understand quality of life differently and thus quality of life "cannot be adequately defined for standardized use in clinical context."…”

Cardiac Interventions for Patients With Trisomy 13 and Trisomy 18: Experience, Ethical Issues, Communication, and the Case for Individualized Family-Centered Care

“…Improved outcome data have led more centers to rethink their approach and provide complex surgery to patients with Trisomy 13 and 18. 10,28-30 We caution that, similar to a displaced pendulum, the trajectory moving away from “never offer surgery” for children may risk a turn to the extreme opposite pole to “always offer surgery” for children with these conditions. 31 It would be unfortunate if the family experience moved from barriers to surgery to inflated expectations of benefit or worse shortened lives and reduced time at home.…”