Parental experiences and genetic counsellor roles in Pierre Robin sequence
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ORIGINAL ARTICLE
Parental experiences and genetic counsellor roles in Pierre Robin sequence Rhiannon Sandow 1,2,3 & Nicky M. Kilpatrick 4,5 & Tiong Yang Tan 1,5,6 & Supriya Raj 5 & Laura Elenor Forrest 5,7,8 Received: 20 November 2019 / Accepted: 21 April 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Pierre Robin sequence (PRS) is a craniofacial abnormality comprising micrognathia, glossoptosis and airway obstruction, which can impair the newborn’s feeding and breathing. While there has been much research around the cause of PRS and most appropriate methods of care, understanding the psychosocial aspects of a PRS diagnosis from the parents’ perspective is lacking. The aim of this study is to understand parental experiences of having a child diagnosed with PRS, as well as the role of genetic counselling in PRS. Fourteen semi-structured interviews were conducted with parents of children diagnosed with isolated PRS between 2 and 5 years prior. From these 14 interviews, eleven transcripts were analysed to find common themes and experiences. The diagnosis was confusing and overwhelming for participants during emotionally sensitive periods and little was understood about the cause of their child’s PRS. Those participants who did recall experiences with genetic services reported that they were minimal and uninformative. According to participant recollection, genetic counselling was rarely offered, despite there being a potential for this service in PRS. Genetic counselling would be a valuable source of information and support for parents both at the time of antenatal diagnosis, and potentially 6 to 12 months later in the outpatient environment when these children are all routinely reviewed by their clinical care team. Keywords Pierre Robin sequence . Genetic counselling . Parents . Experience . Diagnosis
Introduction Pierre robin sequence (PRS) is characterized by a triad of micrognathia, glossoptosis, and airway obstruction, with or without a cleft palate (Tan et al. 2013). For infants with * Laura Elenor Forrest [email protected] 1
Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia
2
Sydney Ultrasound for Women, Sydney, NSW, Australia
3
Department of Cancer Genetics, Royal Prince Alfred Hospital, Sydney, NSW, Australia
4
The Royal Children’s Hospital, Melbourne, VIC, Australia
5
Murdoch Children’s Research Institute, Melbourne, VIC, Australia
6
Victorian Clinical Genetics Services, Melbourne, VIC, Australia
7
Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia
8
Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia
PRS, the severity of micrognathia and glossoptosis varies greatly, as too does the degree of respiratory and feeding difficulties (Morice et al. 2018). PRS is most commonly diagnosed within hours or days after birth, although antenatal detection of micrognathia accounts for around 7% of cases of PRS (Lind et al. 2015). An antenatal diagnosi
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