Parents were responsible for the communication of the diagnosis of SMA to their children in 76% of cases. Although the doctor informed the parents of the name of the diagnosis in 100% of cases, only 48% of caregivers reported that the main source of information for clarifying and orienting the diagnosis was the attending physician. Sixty-two percent (31/50) of parents did not receive or partially received professional support on how to inform their children about the diagnosis. This finding seems to be related to the increase in psychological trauma in parents responsible for communicating the diagnosis to their children compared to when doctors inform the diagnosis directly to patients (p = 0.043).
In this way, poor communication has a double negative impact: on parents, for not having received the information they thought was necessary, having to seek answers from other sources; and on children, who received information from emotionally shaken parents with no technical ability to approach the topic. Parents have reported insecurity in disclosing the diagnosis of genetic diseases because of the difficulty in expressing themselves, dealing with emotions, and determining the ideal moment, besides doubts regarding the level of understanding of their children, possible interferences in their self-esteem, discriminatory events, and the use of this diagnosis as an excuse to face their difficulties [21].
Firth (1983) reported that few parents initially understood or had a superficial understanding of the diagnosis of Duchenne dystrophy, a rare, genetic, and neurodegenerative disease [12], diverging from the findings of the current research in which only 6% reported not having understood the diagnosis. This understanding was not a sufficient requirement to feel prepared to disclose the information to the affected child. The approach centered on the patient and their families allows us to understand what the information needs are at any given moment, what their values, preferences, psychosocial and existential concerns are. In addition, emotional support, empathy and the opportunity for discussion are factors that strengthen support for the family during the communication process [22].
Thus, poor communication of the diagnosis of this neurodegenerative disease compromises the autonomy of the physician/child/family trinomial due to the inability to make well-informed decisions. The communication between physicians and children can shift between a deliberative model, in which there is a constant dialogue, with the participation of the children and exchange of knowledge in an appropriate and individualized language for each part of the trinomial, with the use of the informed consent form from the children and their legal guardians when necessary; and a paternalistic model, in which the child is a vulnerable and submissive being, who accepts the behavior of the physician/legal guardian who holds all technical and scientific knowledge. These formats differ in terms of the perception of the moral structure of the children and its impact on decision-making, which must be individualized [23].
The autonomy of children and adolescents in health care and research must be evaluated according to their maturity, personality, independence, and problem-solving ability in their daily lives and this is not always directly related to age. The professional is responsible for providing information and technical support for decision-making between parents and children. Thus, the perception and opinion of children and adolescents are relevant in the context of health decisions [11].
The autonomy of the child-family is directly proportional to the communication of the diagnosis. The quantity and quality of information and the sensations surrounding the moment are intrinsically related to the decision-making process [24,25,26]. Parents of children with oncological diseases that were asked to participate in clinical studies after the moment of diagnosis reported, afterward, not having understood what randomization was nor the difference between treatment and research. They make an ill-considered decision because they are emotionally distressed, with no understanding of the objectives of the study or the possible benefits [27].
There is little discussion in the literature about transmitting the diagnosis of neurodegenerative diseases in children [12,13,14]. Firth (1983) highlighted failures in communicating the diagnosis to parents of children with Duchenne diagnosis [12], Metcalfe (2008) described a gap in communicating the diagnosis of genetic diseases to the affected children, leaving parents with this difficult mission [13], and Goodwin (2015) revealed that 70% of parents of children with Down syndrome have not discussed the diagnosis with their children [14].
Caregivers, mainly mothers, were responsible for disclosing the results of genetic tests related to abnormalities in the X chromosome to affected daughters without support from specialists in most cases [15–, 16,17,18]. They have reported difficulties in transmitting the diagnosis to their children [16], lack of genetic counseling, vague information, and the need to search for information in different sources [24], such as search engines, followed by support groups, with less than 5% of the information obtained being from the physician [25].
In the current investigation, less than 50% of family members have received genetic counseling, which is similar to Duchenne/Becker muscular dystrophy screening studies [13–, 14,15,16,17,18]. Järvinen (2000) and Fraser (2018) stated that the majority of genetically tested young women did not seek genetic counseling upon reaching adulthood, declaring that the result did not impact their lives. Genetic counseling provides families with knowledge, skill, confidence, and resilience in adaptive coping related to illnesses [26]. When the patient is a child or adolescent, counseling adjusts family communication patterns, supports, and educates relatives about genetic disorders in a flexible way and adapted to needs, age, maturity, education level, and psychosocial characteristics [26].
The present study has demonstrated that the less prepared the parents felt during the communication of the diagnosis, the greater the probability of post-traumatic stress syndrome (p = 0.021), which was observed in 50% of the family members, with 22% at high risk. People with a greater understanding of their genetic diagnosis are more likely to talk more openly about it [26]. Post-traumatic stress syndrome, related to unpreparedness in transmitting the SMA diagnosis to the child, may have psychiatric consequences, in addition to triggering an inflammatory cascade, affecting the immune system and physical health, such as metabolic syndrome and cardiovascular diseases [28].
Although there may be a predisposition to SPTD, environmental factors can be triggers [29], in this case, the moment of diagnosis of a serious illness in the child, without assistance in communicating the diagnosis, associated with anguish, fears, and uncertainties related to neurodegenerative diseases.
Techniques for transmitting difficult diagnoses have been part of the medical course curriculum [30,31,32], but reports of inadequate communication have been described in the last three decades [12–, 13,14,15,16,17,18]. The lack of emotional support, focus on technique, and insufficient time for a better physician–patient relationship have generated dissatisfaction with the quality and nature of the information [32]. Eenennaam et al. (2020) emphasized the importance of the interdisciplinary team in establishing prognostic communication guides, as well as the autonomy of the patient of having a family member present and the right not to know [33].
Respect for autonomy must be present in the physician/child/guardian trinomial, and physicians must inform the family of the diagnosis [34] and participate in the moment of informing the children, either indirectly, as a support, or directly, if the child feels welcomed, confident and familiar with the medical professional. Relatives without technical and emotional preparation may carry traumatic experiences for years, affecting their physical and mental health.
Thus, it is recommended that parents seek support from a specialist to obtain information and clear up their doubts to start the communication process early, using simple and clear language, calmly and honestly, without ambiguities, so that the child understands the informed message. They must also be open to listen to their feelings and questions. Emphasis must be given to the abilities of the children and the differences that make each one of them unique, in addition to demonstrating that there are other people with the same diagnosis. This approach can be gradual, with the support of books, figures, and films to illustrate it playfully [21].
Communication barriers on topics such as the end of life and palliative care cause insecurity in the medical environment, for fear of a negative impact on the lives of patients [35, 36]. However, care and quality of life can be improved by honesty, empathy, hope without lying or deceiving, and the individualizing of each case [36], in addition to the understanding of prognosis and therapeutic limitations [35]. Multifamily discussion groups are beneficial in the process of communicating with families who carry hereditary genetic disorders [37]. The support of a multidisciplinary team, composed of psychologists, social workers, occupational therapists, physiotherapists, and speech therapists, among others, favors the establishment of service goals, expands the support network, the sense of security, and the clarification of the disease [38, 39].
Living with an illness that gradually limits strength and consequently functionality for simple tasks, progressing to vital functions, and maintaining a normal level of consciousness from childhood, is a prison in itself and coping with this requires an empathic physician/child/family relationship, honest and barrier-free communication initiated at the time of the diagnosis.