Of the 378 parents, only 158 responded to the survey (response rate: 41.8 %). The respondents consisted of 128 mothers, 11 fathers, and 19 both parents. Most respondents were mothers (n = 128, 81 %). The average age of respondents was 45 years. The current age of children and their age at the time of diagnosis of their genetic condition were 12 years and 21 months old on average, respectively. Information on respondents and their children are shown in Tables 2.
Of the 158 respondents, 67 (42 %) had disclosed information to their children regarding their genetic conditions, whereas 91 (58 %) did not. Many children with BWS, RSS, and WS were informed, whereas many children with 22q11.2, Noonan, Kabuki, PWS, and Sotos syndromes were not (Figure 1). Of the 91 respondents who had not disclosed any information, 68 (75 %) answered that they wanted to inform their children about their genetic conditions in the future, while 23 (25 %) answered that they did not want to disclose this information in any way. One respondent stated that this was a matter of individuality, and thus there would be no merit in disclosing it. The most frequent reason for not disclosing this information was the intellectual disability of affected children. Of the 53 respondents who answered that their affected child had siblings, 46 had disclosed the genetic condition of the affected child to the siblings.
2. Questionnaire I: Respondents who had disclosed information
The most frequent answer regarding the time at which respondents talked to their affected children about their conditions for the first time was when their affected children were at preschool age (4-6 years). The second most frequent response was when children were around the fifth to sixth grades in elementary school (11-12 years). No one disclosed the information after the children had reached 19 years of age (Figure 2). Regarding the disclosure of such information to siblings, preschool age (4-6 years) was also the most frequent response. However, inability to remember when they first informed the siblings was the second most frequent response (Figure 2).
Concerning the affected children, the mother was the primary person disclosing the diagnosis (n = 35; 50 %). Disclosure by both parents was the second most frequent answer (n = 25; 36 %), whereas disclosure by the father constituted only 3 % (n = 2) of answers. Finally, sources other than parents, such as doctors, group meetings, and illustrated books, constituted 10 % (n = 7) of answers.
Regarding siblings, mothers were the ones that primarily disclosed the relevant information (n = 35; 64 %). Disclosure by both parents was the next most frequent answer (n = 12; 22 %), followed by disclosure by other sources, such as doctors, grandmothers, or group meetings (n = 5; 9 %) and fathers (n = 3; 5 %).
We asked respondents to select all the reasons behind their decision to reveal the diagnosis to their children (Table 3). Respondents were also asked to write down any additional reasons they might have had.
Table 3
|
|
Children with genetic condition (n = 67)
|
Siblings1
(n = 46)
|
Items
|
|
%
|
n
|
%
|
n
|
1
|
Asked about the symptoms
|
13
|
9
|
16
|
8
|
2
|
Asked why he/she visited the hospital
|
25
|
17
|
30
|
15
|
3
|
Thought he/she was old enough to understand
|
30
|
20
|
44
|
22
|
4
|
Wanted him/her to understand why he/she visited the hospital as a result of disclosing information
|
43
|
29
|
36
|
18
|
5
|
Seemed to be concerned about physical symptoms
|
7
|
5
|
10
|
5
|
6
|
Because his/her friends said something
|
10
|
7
|
14
|
7
|
7
|
Because of an event, such as enrollment, employment, or marriage.
|
16
|
11
|
12
|
6
|
8
|
Other (if possible, please explain in detail)
|
37
|
25
|
26
|
13
|
Note all items were multiple–choice answers. |
1 This number reflects the siblings of affected children whose responders answered questionnaire I. |
The most common reason was that respondents wanted their affected children to understand the reason for their more frequent visits to the hospital compared with their peers (n = 29; 43 %). The next most frequent reason was that children were mature enough to understand (n = 20; 30 %). Apart from the above, other answers that respondents provided included the following: "I want him/her to know and understand him/herself", "he/she will have to have strength to face issues concerning his/her condition in the future", "we had to convince him/her to have his/her surgery", "his/her friends started to ask him/her naturally about physical features that other peers do not have and he/she should be able to answer on his/her own", "he/she already had some knowledge of it from group meetings, so it was time anyways".
The most common reason for their decision to inform siblings was that respondents thought they were mature enough to understand (n = 22; 44 %). The second most frequent answer was that they wanted the sibling to understand the reason for the frequent visits of the affected children to the hospital (n = 18; 30 %). Other reasons included the following: "I wanted the sibling to understand about the genetic condition and needed his/hers cooperation", "I was dissatisfied with how differently I dealt with the child with the genetic conditions", "the sibling ridiculed the physical characteristics of the child with the genetic conditions", "the sibling started to notice the difference between the siblings of his/her friends and his/her own sibling", "I just naturally found myself wanting to talk ".
We asked respondents to select all the topics discussed with their children at the initial time of disclosing the diagnosis (Table 4). Respondents were also asked to add any additional reasons for their decision.
Table 4
Details of disclosed information
|
|
Children with genetic condition (n = 67)
|
Siblings1
(n = 46)
|
Items
|
|
%
|
n
|
%
|
n
|
1
|
Diagnosis
|
70
|
42
|
76
|
38
|
2
|
Symptoms
|
73
|
49
|
92
|
46
|
3
|
Cause of genetic condition
|
16
|
11
|
28
|
14
|
4
|
Management
|
49
|
33
|
50
|
25
|
5
|
Heredity
|
7
|
5
|
36
|
18
|
6
|
Reason for going to the hospital
|
57
|
38
|
54
|
27
|
7
|
Other (if possible, please explain in detail)
|
9
|
6
|
2
|
1
|
Note all items were multiple–choice answers. |
1 This number reflects the siblings of affected children whose responders answered questionnaire I. |
The most common detail for the decision of respondents to disclose the information on the genetic condition of their child was symptoms (n = 49; 73 %), with diagnosis being the next most common (n = 42; 63 %). Other details included "the condition is no one’s fault" and "everyone, not only you, has strengths and weaknesses". Some examples of other answers included intellectual disability, the reason for drawing blood every time they visited the hospital, and physical symptoms.
Regarding siblings, the most common detail of the disclosure of such information was symptoms (n = 46; 92 %) and the next most common was the diagnosis (n = 38; 76 %) of the affected child.
We asked respondents to list all the things they thought were important points when talking with their children (Table 5). Respondents were also asked to add any additional reasons they had.
Table 5
Important points when disclosing
|
|
Children with genetic condition (n = 67)
|
Siblings1
(n = 46)
|
Items
|
|
%
|
n
|
%
|
n
|
1
|
Be honest
|
36
|
24
|
56
|
28
|
2
|
Keep it simple
|
49
|
33
|
44
|
22
|
3
|
Try to explain in a way that is easy to understand
|
67
|
45
|
66
|
33
|
4
|
Be direct; use appropriate terms
|
3
|
2
|
6
|
3
|
5
|
Do not treat it as an abnormality
|
27
|
18
|
36
|
18
|
6
|
Try to be relieved
|
48
|
32
|
38
|
19
|
7
|
Treat it as "no big deal"
|
25
|
17
|
24
|
12
|
8
|
Other (if possible, please explain in detail)
|
15
|
10
|
8
|
4
|
Note all items were multiple choice answers. |
1 This number reflects the siblings of affected children whose responders answered questionnaire I. |
Note this number reflects children with genetic conditions. |
Note the number of the siblings of affected children reflects the number of responders who answered that they had disclosed information to the siblings of affected children in questionnaire I or questionnaire II. |
Note respondents chose any number on a scale between 0 (lowest) and 100 (highest) as indicating the degree of their feelings. *mean values for each items |
The most frequently chosen important point when disclosing this information was their attempt to explain in a way that was easy to understand (n = 45; 67 %). Keeping descriptions simple (n = 33; 49 %) and trying to provide children with a sense of relief (n = 32; 48 %) were the next most important points. Other important points included telling children that they were not alone, telling them that this was something to face together with the whole family, telling them that they would be helped by a lot of people, encouraging them to be positive and regard their condition as an aspect of their personality and individuality, telling them that there were various disorders, ad making it clear that everyone has their own challenges in life.
In the case of siblings, the most frequently chosen important point when disclosing this information was that respondents tried to explain in a way that was easy to understand (n = 33; 66 %). Being honest was the second most frequently chosen important point (n = 28; 56 %). Other important points reported by respondents included: "I praised the sibling for also working hard during the surgery and hospitalization of the child with the genetic condition", "we told the sibling that if he/she would cooperate, the child with the genetic condition could become independent", "I told the sibling that the child with the genetic condition had an intellectual disability", and "children with genetic conditions might sometimes be restricted from engaging in things they want to do, but there should also be a bright future for them too".
We further asked whether respondents continued discussing with their children (affected and siblings) about the genetic condition after disclosing the diagnosis. Choices were never, sometimes, or always.
Regarding affected children, 12 % (n = 8) of respondents chose "never", whereas 88 % of them chose "sometimes" (n = 29; 45 %) or "always" (n = 28; 43 %). The reasons for "never" were that respondents had just told the child, the child did not understand yet, the child did not talk about it, or the child did not ask about it. In the case of "sometimes", respondents had talked about the condition on occasions such as hospital visits, hospitalization, or group meetings, whenever the child asked about it, whenever the child experienced trouble regarding the condition, or when it had become a topic of conversation. The reasons for "always" were that respondents talked whenever the child was in trouble, on occasions such as participating in group studies, when watching TV, whenever the child asked about, whenever the child seemed to be concerned about symptoms, for the sake of the child’s future, or because they had to provide the child with solutions for dealing with troubles regarding their conditions.
Regarding siblings, 10 % (n = 5) of respondents chose "never", whereas 90 % of them chose "sometimes" (n = 23; 47 %) or "always" (n = 21; 43 %). The reasons for choosing "never" included not asking about it, not seeming to care, or because parents did not view it as something special, so there was no need to talk about it anymore.
Respondents had received useful information on disclosing from attending doctors (n = 41; 42 %), from patients and family associates (n = 32; 32 %), from the internet (n = 16; 16 %), and from other sources (n = 10; 10 %). Other useful information they relied on when disclosing this information included sources such as documents received from attending doctors, books, information about treatment and surgery, and support from family.
Respondents were asked to indicate the degree of their feelings by choosing any number on a scale of 0 to 100, with the lower and upper extremes representing: "the outcome of disclosure was not good for us at all" and "the outcome of disclosure was extremely good for us" for item 1; "I really hesitated to tell them their diagnosis" and "I really wanted to tell them the whole story for a long time" for item 2; "I really regret telling them the diagnosis" and "I will never regret telling them the diagnosis" for item 3; "my family is not functioning well" and "family ties are stronger than ever before" for item 4; and "it’s not easy to talk about it anymore" and "we can talk about it anytime we want to" for item 5.
The lowest reported, highest reported, and mean values for each item were 50, 100, and 88 for item 1, 50, 100, and 75 for item 2, 50, 100, and 95 for item 3, 40, 100, and 67 for item 4, and 0, 100, and 79 for item 5. Many respondents felt disclosing information about the condition was a good thing and did not regret doing so (Figure 3). In contrast, a few respondents felt difficulty talking anymore with their families about the genetic condition.
3. Questionnaire II: Respondents who had not disclosed the diagnosis to affected children yet
Respondents were asked to select any of the 10 multiple-choice items denoting reasons for not disclosing the diagnosis. Respondents (n = 91; 58 %) were also asked to add any additional reasons they might have had. The average age of children with a genetic condition was 9.8 years old.
The most common reason for not disclosing the diagnosis was that the children were not mature enough to understand (n = 70; 77 %). The next most frequent answer was "other" (n = 28; 31 %), followed by "had never been asked about symptoms" (n = 23; 25 %). As it concerns the reasons given for "other", 22 (79 %) out of 28 respondents mentioned difficulty with understanding because of intellectual disability. Four respondents talked to their children about symptoms, the reason for hospitalization, and the reasons for visiting the hospital, but not the diagnosis of the genetic disease. One responder was afraid that if they disclosed the disorder, the child would unintentionally expose its condition to others, which was not desired by the parents. Another responder answered that they did not feel the need to disclose the diagnosis at this point.
We asked respondents whether they would disclose information to their children in the future and their reasons for their answers.
Regarding children with genetic conditions, 68 (75 %) out of 91 respondents answered that they plan to disclose the diagnosis in the future, 24 % (n = 22) answered that they would not, and 1 % (n = 1) answered that they were not sure.
Reasons for disclosing information in the future included the following: "he/she can live a better life if he/she knows, " "he/she will be able to get appropriate support if he/she knows the characteristics of the disorder", "we want him/her to live life with a positive outlook by understanding and accepting the disorder", "we want him/her to be able to communicate his/her needs and ask for help from others when needed", "we will tell him/her why he/she is different from his/her peers when he/she notices and asks about that", "we will tell him/her what he/she should know when he/she starts asking because it’s not a matter that should be hidden", "it will be necessary when getting married and starting a family".
Reasons for not disclosing the information included the difficulty of the child to understand because of intellectual disability, the unknown time by which the child would be able to understand, or the belief of respondents that it was not a matter to deal with proactively.
One responder answered, "I am not sure whether to disclose the information even in the future because nobody knows when they will have grown enough to understand their diagnosis. If they could understand, I would want to tell them, but no one knows when that will be".
Regarding siblings, 34 (45 %) out of 75 siblings had already been informed, 35 (47 %) respondents planned to disclose the information in the future, four (5 %) respondents would not disclose the information, and two (3 %) declined to answer.
We asked respondents to specify the age at which they would disclose this information to the affected child in the future. Regarding children with genetic conditions, 32 out of 68 respondents (47 %) planning to tell the child about their condition answered "uncertain"; this was the most frequent answer. Similar results were obtained for the siblings. The second most frequent answer was "third to fourth grader in elementary school (9-10 years) ". No one mentioned "19 years old or older".
The most frequent answer to whom would primarily disclose the diagnosis to affected children was both parents (n = 43; 58 %), with the mother being the second most frequent answer (n = 22; 30 %), whereas the father constituted only 7 % (n = 5), and others, such as attending doctors and grandparents constituted 4 % (n = 3) and 1 % (n = 1) of all answers, respectively. Considering siblings, the most frequently chosen answer was also both parents (n = 36; 51 %), with the mother being the second most frequent answer (n = 29; 42 %), followed by the father (n = 2; 3 %), and finally, others, such as attending doctors (n = 2; 3 %).