Effects of a Genetic Counseling Model on Mothers of Children with Down Syndrome: A Brazilian Pilot Study

Abstract

Down syndrome occurs in approximately 1:600 live births. Genetic counseling is indicated for these families and may be beneficial for adaptation to the challenges that accompany by this diagnosis. Although the basic counseling goals are similar, there are many models of genetic counseling practiced around the world. The aim of this article is to report the results of a pilot study that evaluated the level of satisfaction with a model of service delivery of genetic counseling practiced in Brazil, the knowledge assimilated about Down syndrome and whether this process resulted in a feeling of well-being and psychological support. Thirty mothers of under 6-month-old children with Down syndrome were interviewed after having two sessions of genetic counseling in a public healthcare service within a period of 30 days. A semi-structured questionnaire was developed by the researchers to collect identification, socioeconomic and demographic data and to assess the client's satisfaction with the model of genetic counseling. Data were collected using both open and closed questions. The reported level of satisfaction was high. The knowledge assimilated about Down syndrome after only two sessions was considered technically vague by raters in 44 % of cases. Most mothers (96.7 %) reported that genetic counseling was beneficial and provided psychological support. The model was considered satisfactory, but further research is needed to identify ways to improve knowledge retention by this population. These results highlight the utility of referring families for genetic counseling when there is a suspicion of a diagnosis of Down syndrome.

Barriers and Facilitators to Genetic Service Delivery Models: Scoping Review

“…Another study assessed the level of satisfaction among Brazilian mothers of children with Down syndrome who received care from a multidisciplinary team consisting of 3 counselors, 3 psychologists, a social worker, 3 physicians, and 2 nurses. Satisfaction with the information received and psychological support was high among the mothers [45].…”

Cross-Cultural Adaptation and Validation of a French Version of the Genetic Counseling Satisfaction Scale (GCSS) as an Outcome Measure of Genetic Counseling for Hereditary Breast and Ovarian Cancer

“…The GCSS was said to be applicable to different genetic counseling practice contexts [ 8 ]. The GCSS has been used to evaluate genetic counseling for melanoma genomic risk [ 22 ], acute intermittent porphyria caused by mutations in the hydroxymethylbilane gene [ 23 ], prenatal genetic counseling [ 24 ], pancreatic cancer with the presence of CDKN2A [ 25 ], Lynch syndrome [ 26 ], coronary heart disease genomic risk [ 27 ], multiple sclerosis [ 28 ], Down syndrome [ 29 ] and breast and ovarian cancers [ 30 ]. However, the fact that the GCSS was deemed to be applicable to different counseling settings does not preclude the requirement to actually validate the scale in all its different usages [ 31 ].…”

Families with complex needs: an inside perspective from young people, their carers, and healthcare providers

“…The interview guides were developed based on previous literature (Hines et al 2009 ; Micheletto et al 2013 ; Szybowska et al 2007 ; von der Lippe et al 2017 ) and were focused on 3 main areas: (1) medical needs (e.g., knowledge about diagnosis, previous experience with healthcare, type of services accessed); (2) psychological needs (e.g., coping strategies and social support); and (3) communication needs (e.g., communication with stakeholders; family dynamics and relationships) (see Appendix 1 for the interview guide). The interviews were conducted in Romanian by the first author (MR) between February and September 2018.…”