“She Came out of mum's Tummy the Wrong way” (Mis) Conceptions Among Siblings of Children with Rare Disorders

Abstract

Misconceptions or uncertainty about the rare disorder of a sibling may cause adjustment problems among children. New knowledge about their misconceptions may enable genetic counselors to provide targeted information and increase siblings' knowledge. This study aims to describe misconceptions and uncertainties of siblings of children with rare disorders. Content analysis was applied to videotapes of 11 support group sessions with 56 children aged 6 to 17. First, children's statements about the disorder (turns) were categorized into the categories "identity," "cause," "cure," "timeline," and "consequences" and then coded as medically "correct," "misunderstood," or "uncertain." Next, turns categorized as "misunderstood" or "uncertain" were analyzed to explore prominent trends. Associations between sibling age, type of disorder, and frequency of misconceptions or uncertainties were analyzed statistically. Approximately 16 % of the children's turns were found to involve misconceptions or uncertainty about the disorder, most commonly about the identity or cause of the disorder. Misconceptions seemed to originate from information available in everyday family life, generalization of lay beliefs, or through difficulties understanding abstract medical concepts. Children expressed uncertainty about the reasons for everyday experiences (e.g. the abnormal behavior they observed). A lack of available information was described as causing uncertainty. Misconceptions and uncertainties were unrelated to child age or type of disorder. The information needs of siblings should always be addressed during genetic counseling, and advice and support offered to parents when needed. Information provided to siblings should be based on an exploration of their daily experiences and thoughts about the rare disorder.

Children and young people's understanding of inherited conditions and their attitudes towards genetic testing: A systematic review

“…In addition, adolescents with CF did not know the incidence and carrier rates of CF . Misconceptions may be related to misunderstanding of more complex medical concepts (eg, chromosomes), as was demonstrated in the case of siblings of children with rare disorders . Further, although AIP‐mutation carriers generally knew their genetic status, some demonstrated confusion about the symptoms of clinically manifest AIP …”

“…Twenty studies representing the views of 1811 children and young people aged between 6 and 21 years were identified (1498 children or young people at general population-level risk from 9 studies, 313 affected/at risk from 15 studies). A minority of studies [37][38][39][40][41] (n = 5) investigated the perspectives of children 10 years or younger.…”

“…Eleven studies 38,[41][42][43][44][45][46][47][48][49][50] exclusively investigated the perspectives of children and/or young people while the remainder of studies also included the perspectives of other groups, predominately parents. 37,39,40,[51][52][53][54][55] Thirteen studies [38][39][40][41][42][43]46,47,51-55 described children and young peoples' understanding or knowledge of clinical genetics and genetic testing, and 12 studies 37,40,42,44,45,[48][49][50][51]53,54,56 described their attitudes towards clinical genetic testing.…”

“…54 Some gaps in understanding were also identified. Generally, studies (n = 4) 39,41,46,52 indicated that children and young peoples' understanding of heritability was grounded in observable family experience rather than knowledge of specific genes or carrier rates. For example, youth with sickle cell disease (SCD) demonstrated limited understanding of the inheritance of SCD and did not know the probability of passing SCD to their offspring.…”

Hvordan støtte foreldre til barn med livsforkortende sykdom?

“…The first step in informing the child may therefore be to say that the doctor has found out that he/she has a disorder, and that naturally the parents are sad because of this. The most important information parents give is linked to the symptoms or restrictions the child experiences in daily life and how these are dealt with (10).…”