Going down a different road: first support and information needs of families with a baby with Down syndrome

Parents who receive an unexpected diagnosis of Down syndrome in their newborn child go through many stages of reaction and adaptation. Even if the diagnosis was suspected during pregnancy, its confirmation can be a shock. Contact with formal sources of support, information and treatment have been shown to contribute to parents’ ability to cope, ultimately affecting the future wellbeing of the child and the extended family.1-3

Several studies have investigated sources of support received by new parents of a baby with Down syndrome, and the needs and preferences of parents following the diagnosis.2,4-13 Some have proposed practice points for improving the delivery of care in the early stages after a baby with Down syndrome is born, to reduce the trauma associated with diagnosis.2,7,8,11,12 Despite these recommendations, parental needs are not always met. A questionnaire-based study of the mothers of 74 children with Down syndrome born in Victoria during the period 1995–1996 showed that information and support for families was not structured and depended heavily on the commitment of the health professionals involved with the birth.14

We explored how formal sources of support are experienced by Victorian families with a newborn diagnosed with Down syndrome. We also documented family preferences for information and support in the early stage after diagnosis, with a view to formulating practice points for improving postnatal care.

Eligibility criteria for families in the study were that the infant was not diagnosed with Down syndrome before birth, the infant was born between 1 January 2002 and 31 December 2004 and was living at the time of interview, and the parents were fluent in English. To reduce sampling bias, eligible participants were identified through the Victorian Birth Defects Register, rather than by a call for volunteers. For privacy reasons, invitations to participate were then sent to each mother by the physician who notified the birth to the Register. Ethics approval for the study was obtained from the Victorian Government Department of Human Services Human Research Ethics Committee.

The theoretical framework underpinning the study was a model of stress and coping developed by McConachie.15 The model comprises two main elements that influence parental adaptation after a major stressful event — parents’ individual coping styles and available resources. The role of formal sources of support (the focus of this study) is embedded in the latter.

As we wanted to explore parents’ needs and experiences in detail, in-depth interviews were conducted by one of us (E E M). Interviews began with an open-ended question: Would you please tell me about the time your baby was born and when it was first suspected that all was not quite as it should be? This allowed parents to describe their experience, reflecting on issues that were important to them at the time of diagnosis. Further questions were asked by the investigator for clarification and expansion. Interviews were audiotaped and transcribed verbatim. Interpretive content analysis16 was undertaken by systematically identifying emerging categories using NVivo 7 (QSR International, Doncaster, Vic), a qualitative research software package. Coding of categories was independently verified by one of us (V R C).

A total of 123 potentially eligible mothers were identified, and the physicians of 70 were traced and contacted in writing. Thirteen of these physicians informed us that the mother had moved interstate or that they did not have contact details for her. From the remaining physicians, 17 families were recruited for the study. One additional mother volunteered to participate because she had heard about the study from a third party.

Of the 18 families who participated, 4 lived in rural areas of Victoria and 14 lived in Greater Melbourne. Eight women gave birth in a private hospital and 10 did so in public hospitals. The mothers’ ages ranged from 25 to 43 years, and 11 of the 18 were younger than 35 years at the time of the birth. The children with Down syndrome were aged between 1 and 4 years at the time that interviews took place, and in nine families the child with Down syndrome was the firstborn. Seven interviews were conducted with both parents, and 11 with mothers only; the duration of the interviews was 50–70 minutes.

This study provided insight into the experiences of parents of a newborn with Down syndrome at the time of diagnosis, and their need for support and information. Parents’ tendency to remember exactly how they were first told of their child’s condition and the way this framed their subsequent reactions indicate the importance of this moment. After this, parents rely heavily on their own personal resources and coping strategies, as well as formal supports.15,17-19

A delay in delivering this sort of news can be detrimental to parents’ ability to cope, and parents wish to receive such news early.4,5,11 However, we showed that parents are unhappy when they are told that their infant may have Down syndrome straight after birth, before the mother’s immediate needs are attended to, or before they hold or see their baby, which is consistent with previous findings.4,11 This suggests that there is a need to balance the timing of disclosure with allowing parents to welcome their newborn. Small gestures such as congratulating parents on the birth of their child were much appreciated by the parents in our study, and it is disheartening that these were rare.

Parents also expressed anxiety associated with the uncertainty of the clinical suspicion. This could be alleviated by fast-tracking karyotype confirmation using techniques such as fluorescent in situ hybridisation, and providing information about Down syndrome with sensitivity to parents’ needs at the time. Although parents’ reaction to the diagnosis is clearly influenced by the communication style of the paediatrician, many parents are able to differentiate between their reaction to the diagnosis and to the manner in which it was delivered.5,20

Training doctors in how to communicate bad news is very important and could be improved.21,22 Current training in Victorian medical schools includes several modules spread across the course teaching students to deal with clinical scenarios that involve breaking bad news and communicating sensitively and effectively. At the postgraduate level, an apprenticeship model is vital for equipping paediatric trainees to communicate bad news. Paediatric training and continuing medical education programs have used interactive technology to discuss the best way to communicate unexpected news.21 An example is the Communication Skills Simulation Programme at Royal Children’s Hospital, Melbourne, which is open to all medical staff but targeted particularly to junior staff. It involves a workshop using videos of consultants, as well as opportunities for junior doctors to practise giving bad news with a trained actor. However, the most important training opportunities remain real-life situations, in which junior staff can observe skilled and experienced clinicians telling families honestly and compassionately that their infant has a serious disability.

Continuity of care facilitated by a liaison worker might resolve many of the other issues raised by parents in this study.23,24 It might assist in the normalisation and continuity of postnatal care, ensure consistency of advice, and facilitate appropriate referral to a lactation consultant or peer support. However, liaison workers who support new parents of a child with Down syndrome need to feel confident about providing information in the context of a family-centred model, work with other health professionals involved in the care of the family, have up-to-date resources available, and understand the referral system for early intervention. As the birth of a baby with Down syndrome or other disability is uncommon, it might not be feasible to employ liaison workers at every hospital. A possible solution is a roving allied health professional skilled in providing the required support, such as a genetic counsellor. Although genetic counselling in Victoria is predominantly used in the prenatal setting for Down syndrome, it has been shown to be equally useful in a similar setting after a postnatal diagnosis.25 In addition, parents’ concerns regarding the term “genetic” might be alleviated by a more purposeful explanation of the genetic counsellor’s role in postnatal support.

This study had some limitations. We cannot be certain that the experiences and needs of the families in our study are representative of those of most families with a newborn with Down syndrome. However, consistent themes emerged from the interviews, and it is likely that similar factors influence the postnatal experiences of other families. This study focused on parents’ early needs for support and information and did not look at other predictors of parental coping and adaptation, such as individual coping strategies, family functioning, and housing, finance and employment status. Their importance should not be underestimated. Also, additional complexities exist for families from culturally and linguistically diverse backgrounds, who were not included in this study.

A positive experience with health care providers can contribute significantly to a family’s emotional recovery after an unexpected diagnosis of Down syndrome in a newborn, regardless of individual coping strategies. Despite the myriad of literature on breaking bad news and communicating with parents of a newborn with Down syndrome, a need for change continues. The experiences of parents in this study provide practice points to help health professionals improve care with minimal changes to formal service systems (Box).

Practice points for improving care for parents of a newborn with Down syndrome

• Health professionals’ verbal and non-verbal communication has a potentially lifelong impact on parents.

• The effect of uncertainty of the diagnosis in the first few days after birth is considerable. Opportunities for promoting parent–infant bonding and normalising postnatal care need to be balanced with raising the clinical suspicion of Down syndrome as soon as possible.

• Confirmation of the clinical suspicion of Down syndrome should be expedited by using techniques such as fluorescent in situ hybridisation to determine karyotype.

• Maternity services should be encouraged to provide a private room for both parents during the postnatal stay.

• A designated health care worker, who can assist with coordination and navigation of the health care system, could help provide continuity of care for families with an infant with Down syndrome.

• Parents should be provided with up-to-date written information about Down syndrome and information about peer support while they are still in hospital.

Image reproduced with permission from Down Syndrome Victoria.