FAMILY APPRAISAL OF THE DOWN SYNDROME DIAGNOSIS

Débora Lara Couto Schettini,Marcia Leigh Van Riper,Elysângela Dittz Duarte

doi:10.1590/1980-265x-tce-2019-0188

Débora Lara Couto Schettini, Marcia Leigh Van Riper + Show 1 more

Open Access

https://doi.org/10.1590/1980-265x-tce-2019-0188

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Abstract

ABSTRACT Objective: to analyze the family appraisal about the Down syndrome diagnosis. Method: this is a qualitative, exploratory study, guided by the Resiliency Model of Family Stress, Adjustment, and Adaptation. Semi-structured interviews were conducted with 20 Brazilian parents of children with Down syndrome (19 mothers and 1 father). The data were collected between February and June 2016 and were analyzed using a directed content analysis approach and MAXQDA ©, version 12.2.0 software was used to help manage the data. Results: the moment of suspected or confirmed diagnosis of Down syndrome occurred predominantly in the postnatal period. Parents viewed the experience of being informed of their child’s diagnosis as a negative experience and were mostly dissatisfied with how professionals informed them. Parents reported that, over time, their view of having a child with Down syndrome became more positive. Conclusion: the family's perception of how they were informed of their child’s diagnosis plays a critical role in the family adaptation process and may ultimately contribute to how well they adapt. Findings from this study will help in the identification of key competencies needed by health professionals who engage in informing families about their child's diagnosis of Down syndrome.

Highlights

Down Syndrome (DS), the most common chromosomal cause of intellectual disability, is associated with a characteristic phenotype and a wide variety of co-occurring conditions such as congenital heart disease, hypothyroidism, and celiac disease.[1–3] The number and severity of cooccurring conditions can vary greatly from one child with DS to the so no two children with DS are exactly alike.The diagnosis of DS is an important and often unexpected event that can have profound implications for the child and for other family members
12 participants worked at the time of data collection
The ages of the children with DS ages ranged from one year and days to two years and nine months old

Summary

Introduction

Down Syndrome (DS), the most common chromosomal cause of intellectual disability, is associated with a characteristic phenotype and a wide variety of co-occurring conditions such as congenital heart disease, hypothyroidism, and celiac disease.[1–3] The number and severity of cooccurring conditions can vary greatly from one child with DS to the so no two children with DS are exactly alike.The diagnosis of DS is an important and often unexpected event that can have profound implications for the child and for other family members. Down Syndrome (DS), the most common chromosomal cause of intellectual disability, is associated with a characteristic phenotype and a wide variety of co-occurring conditions such as congenital heart disease, hypothyroidism, and celiac disease.[1–3]. While some families may struggle with the ongoing demands associated with DS, others adapt well and some thrive.[4–5]. The care needs of children diagnosed with DS go far beyond the demands found in families whose children have typical development. These extra care demands can negatively affect individual and family adaptation because they require family members to invest a great deal of time, patience, and energy into the care of the child with DS.[5–6]

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