Experience of mothers with Down syndrome children at the time of diagnosis

Abstract

Introduction. Down's syndrome (DS) is a common genetic disorder. The families of children with DS generally do not receive sufficient information at the time of the diagnosis. They are dissatisfied with the manner of healthcare professionals. The objective was to evaluate the experiences of mothers of children with DS at the time of the diagnosis and the communicative attitudes of healthcare professionals. Population and methods. Mothers who had children with Down syndrome were included. The experiences of the mothers at the time of diagnosis and the attitudes of the healthcare professionals were evaluated by a semistructured interview. Results. The study sample was 43 mothers. Eight children had been diagnosed with DS prenatally, and 35 had been diagnosed postnatally. Eighteen of the mothers had received the diagnosis in a pediatric clinic, and 16 had been told of the diagnosis in an obstetric clinic. More than half the mothers had received the first information about their child's diagnosis from a pediatrician. Only five of the 43 mothers had received detailed information. Twenty-three of 32 mothers said that they were met with a negative attitude. Generally, the time put aside to inform the families about the diagnosis was less than 5 min. Conclusions. Mothers of DS children want more information about DS from healthcare professionals. Furthermore, they want this information to be delivered in a supportive and sensitive manner. Healthcare professionals, especially pediatricians need to allocate sufficient time to discuss DS and its challenges with the family.

Courtesy stigma of parents of children with Down syndrome: Adaptation process and transcendent stage

“…Furthermore, these negative psychological effects not only are observable at the time of a child's diagnosis, but also affect the broader psychosocial aspects of childbearing and subsequent childrearing. Therefore, in prenatal and pediatric genetic counseling, it is important to provide psychosocial support for parents in addition to information about the medical aspects of the condition (Ashtiani et al., 2014 ; Biesecker, 2001 ; Buyukavci et al., 2019 ; Sheets et al., 2011 ).…”

Communicating a neonatal diagnosis of Down syndrome to parents

“…Caregiver reports suggest that first steps after introductions ideally involve congratulations on the birth of their infant, and provision of additional information to explain the diagnosis and cause of DS, and how a diagnosis of DS in their child may impact family life. Caregiver interviews and questionnaires uniformly report preference for the diagnosis to be provided in the presence of both caregivers9–12 by a doctor known to them 9 10. Standard recommendations suggest that disclosure of the diagnosis is ideally delivered in a private room 9 11 12.…”

“…Caregiver interviews and questionnaires uniformly report preference for the diagnosis to be provided in the presence of both caregivers9–12 by a doctor known to them 9 10. Standard recommendations suggest that disclosure of the diagnosis is ideally delivered in a private room 9 11 12. Caregivers frequently highlighted the importance of privacy.…”

“…Muggli et al report a preference that this conversation take place as soon as the diagnosis is suspected but note that it is important that caregivers are first given the opportunity to see and hold their baby if there are no immediate medical issues that need to be attended to 14. Most importantly, caregivers report that particular consideration ought to be given to the language used to inform them of their child’s DS diagnosis, avoiding apologies, pity or overemphasis on future limitations 9 12. As noted by one parent, ‘the birth of a child with DS is not a tragedy and should not be introduced as one’.…”

“We’re in the same book, but we’re in different parts of the book”: Dominant and sub-group narratives of life following a Down syndrome determination

“…Individuals with DS may experience the same medical issues as their typically developing peers but have an increased probability of experiencing certain medical conditions, including congenital heart disease, celiac disease, leukemia, hypothyroidism, diabetes, autism, visual and auditory impairments, seizures, and dementia in older age ( Grieco et al, 2015 ). A determination of DS is made either during the pregnancy via prenatal testing, or, postnatally, via karyotyping ( Buyukavci et al, 2019 ). Most parents who have a child with DS became aware of their child’s determination after birth ( Skotko, 2005a ).…”