Support, information, and integration of genetics for children with congenital lower limb deficiencies in British Columbia, Canada

Abstract

Objectives

Children and families affected by congenital limb deficiencies (CLD) require a unique level of emotional support from diagnosis through to adolescence. The following study aims to collect data on Canadian paediatric patients affected by a CLD followed at BC Children’s Hospital (BCCH), Department of Orthopaedics.

Methods

Parents of children with a CLD were asked to complete a written questionnaire examining their experiences. Qualitative and quantitative data were collected concerning parent satisfaction with patient referrals, emotional support, and knowledge of their child’s diagnosis.

Results

Twenty-five completed questionnaires were returned. Fifty per cent of the parents reported they were either very satisfied, or satisfied, with the emotional support provided by health care providers (HCPs). Twenty-five per cent of the parents were unsatisfied with the emotional support received by HCPs. Forty-eight per cent of the parents could not recall the specific name of their child’s diagnosis; 20% of the parents reported their child did not have diagnosis. All the patients in our study had received a clinical diagnosis. Twenty-eight per cent of the parents in this study were also seen in medical genetics.

Conclusions

Families require additional resources for emotional support, peer support, and referrals to support organizations. Gaps in parent knowledge regarding their child’s CLD suggest the need for formalized communication strategies for HCPs. Furthermore, patients with CLDs and their families may benefit from improved communication between orthopaedic and medical genetic services at the time of diagnosis. Integration of genetic counsellors may improve emotional supports and education for families with regards to testing and reproductive planning.

An estimated 15,000 children per year are born with congenital anomalies in Canada (1,2). Congenital limb deficiencies (CLD) account for 3.5 out of every 10,000 live births and are more common in males (2,3). Children born with CLD and their parents require a unique level of emotional support from health care providers (HCPs) and support organizations relative to parents of unaffected children. Research studies have addressed experiences of affected individuals and their parents identifying common themes, such as the need for emotional support and adequate information from HCPs (4–10). Due to an increased risk for depression, trait anxiety and issues related to self-esteem for patients with limb deficiencies and their family members, emotional support, both social and psychological, are important to improve functioning (11). Emotional support was defined as reassurance, open communication, and appropriate action provided by HCPs, support organizations or community during times of stress.

EMOTIONAL SUPPORT FOR PATIENTS AND FAMILIES WITH CLD

Parents experience initial shock when discovering their child has a CLD and require emotional support (4,5). This support varies depending on social support systems, personal beliefs, and family dynamics (6,7). Patients with CLD are often referred to HCPs and resources, however, not all parents receive the necessary referrals to subspecialties and support organizations (4,5). Referrals to genetic counsellors, support groups, and peer correspondence prove to be beneficial for parents (8–10).

COMMUNICATION OF INFORMATION FOR PATIENTS AND FAMILIES WITH CLD

Parents have expressed the desire for more knowledge regarding their child’s CLD from HCPs including: potential causes, future prospects, and information on where to access support (12). Parents have reported being dissatisfied with the level of information provided by HCPs concerning their child’s diagnosis, which drives parents to seek out additional resources (13). Moreover, parents who did not receive enough information from HCPs stated they lost trust in their HCP’s skill to care for their family (14). The nature of how HCPs communicate information to families can have a substantial impact on how families interpret their child’s diagnosis and future prospects.

PRENATAL DETECTION OF CLD

Radler et al. described the preference of mothers to obtain diagnosis prenatally for babies with a CLD (15). Sixty-three per cent of the mothers surveyed stated prenatal diagnosis via ultrasonography enabled them to access additional information and resources such as prenatal counselling (15). Many, but not all, CLD can be predictors of an underlying genetic condition, raising the question of when genetic referrals are appropriate (16). Studies have shown that positive family history, bilateral deficiencies, and multiple anomalies merit further genetic investigation (17). Proper communication between specialties regarding future prospects for children is of great importance and can positively impact family outcomes (18). The partnership of the radiologist and genetic counsellor in the prenatal evaluation for patients with fetal anomalies has demonstrated effectiveness (19).

The following study aims to collect specific data on paediatric patients with CLD, followed at the BCCH Orthopaedics Program, to determine emotional supports, communication of information, and implementation of genetics referrals for this population.

METHODS

Study staff invited eligible parents at the BCCH Orthopaedic Clinic to participate by completing the questionnaire. Parents who wished to participate consented by completing the questionnaire (see Supplementary Material). The inclusion criteria required that the child’s limb deficiency was congenital and the study was restricted to the paediatric population (≤19 years of age). Participating parents were given the time to complete the questionnaire while waiting for their child’s appointment at the clinic. The parents were informed they may omit any question(s) or withdraw consent at any time during the study without affecting their child’s care. The study staff recruited 25 participants throughout the duration of the study (April 2016 to October 2017).

The classification system for limb deficiency (shown in figure format, where parents could circle the most relevant deficiency) described by Gold et al. was selected based on its comprehensiveness (20). The classification system was chosen to be one that is based on directly observable phenotypes, and not based on radiographic or genetic data, which may be unavailable. The actual clinical diagnoses were made by the orthopaedic team through radiographic and clinical evaluation.

The questionnaire took participants approximately 10 to 15 minutes to complete and was composed of 15 questions. The questionnaire was divided into four major categories: i) demographic information and nature of the child’s limb disorder, ii) parental health care experiences soon after diagnosis, iii) referral to health care professionals and support organizations, and iv) emotional support, the need for information, and possible improvements. Parents were asked about their interactions with HCPs and support organizations and to describe the emotional support and information received from different sources and to specifically identify which resources were the most valuable.

RESULTS

Demographic data

Twenty-five parents participated in our study. The respondents were primarily female (84% versus 16% male). The affected children were predominantly male (68% male versus 28% female). The age when children were first referred to the clinic ranged from 1 to 72 months of age, with the mean age of referral being 24.23 months (Table 1).

Table 1.

Demographic information, parental knowledge of diagnosis, patient referrals, and referral satisfaction

	Frequency (N=25)	%
Gender of Parent
Male	4	16
Female	21	84
Gender of Child
Male	17	68
Female	8	32
Parental Knowledge & Referrals
Accessed external* information sources	14	56
Referred to a support group	5	20
Parent could not recall specific diagnosis	12	48
Parent classification different from clinical	19	75
Informed of diagnosis before birth	9	36
Informed of diagnosis after birth	16	64
Parents not referred to Medical Genetics	18	72
Parents who did not know the cause of their child’s CLD	18	72
	Range (months)	Mean ** ± SD
Age child was referred to the clinic	1–72	24.23 ± 29.64
Satisfaction of support Provided (N=25)	NR***	VD***	D***	N***	S***	VS***
HCP	13	0 (0%)	3 (25%)	3 (25%)	4 (33.3%)	2   (16.7%)
Support group (emotional)	21	0 (0%)	0 (0%)	1 (25%)	2 (50%)	1 (25%)
Support group (quality of information)	21	0 (0%)	0 (0%)	0 (0%)	1 (25%)	3 (75%)

CLD Congenital limb deficiency; HCP Health care provider.

*Webpages, Facebook groups, medical literature.

**95% confidence interval.

***NR No response; VD Very dissatisfied; D Dissatisfied; N Neutral; S Satisfied; VS Very satisfied.

Emotional support for patients and families affected by CLD

Parents were asked about the emotional support they received from HCPs. Of the parents who responded, 16.7% of the parents reported they were very satisfied, 33.3% were satisfied, 25% felt neutral, and 25% felt dissatisfied with the emotional support provided. No parents responded that they were very dissatisfied with the support provided (Table 1). Three parents commented they did not receive the emotional support required from HCPs (Table 2; Q1-3), four commented that they did not require emotional support (Table 2; Q5-8), and one parent commented it was difficult to consider his/her emotions (Table 2; Q4). Two parents commented that the most helpful referral was talking to other parents whose child had a CLD (Table 2; Q9-10).

Table 2.

Parent quotations (Q) regarding emotional support, knowledge, concerns, and overall CLD experiences

Q1	[We] did not get any emotional support. It would be nice to get some sort of emotional support.
Q2	I didn’t find that there was much of any emotional support.
Q3	I felt quite alone during my pregnancy after my son was diagnosed at our ultrasound. The radiologist had ‘never seen anything like this before’. We were sent home after and had a follow up a week later.
Q4	[It is] hard to consider my own emotions when there is so much medical going on… thinking of speaking with a social worker.
Q5	We did not require emotional support outside of the family
Q6	We have not required emotional support… nor has it been offered.
Q7	My child’s deficiency is not very severe, so I do not require a lot of emotional support.
Q8	Didn’t really need emotional support; she is a positive, happy kid.
Q9	Yes, [the referrals we received provided emotional support] and the additional reference to another patient and what he had to go through helped very much.
Q10	Talking to other parents seemed to give me more ‘real’ information. Most helpful [for our family] around surgery times.
Q11	No one [referred us to support groups], we found them by ourselves.
Q12	War Amps was very helpful in providing the ‘you are not alone’ perspective.
Q13	We would have liked more comprehensive information at the onset. It felt as though the [HCP] were guarded about the amount of information [they could] provide.
Q14	Verbal consultation without written report often leaves gaps in understanding and from a parents perspective. A summary document of diagnosis, prognosis, treatment and evaluation would be helpful.
Q15	Information is power. The power to choose to be involved is awesome.
Q16	[The] orthopaedic surgeon gave good explanations of options and possible outcomes.
Q17	It would be helpful to receive information on how to live with limb deficiencies as an adolescent and adult.
Q18	The Doctor used X-rays to explain how to help my son.
Q19	The 3D ultrasound two months [after diagnosis] was very helpful to see our sons face and profile and that he looked okay.
Q20	We were told there were no genetic causes but it was never really explained to us what the cause was.
Q21	[The additional information we were given was not enough] there were still lots of unanswered questions.
Q22	[My biggest future concern is] that this may be genetically passed down to her children [we] never figured out why she was born missing the bone.
Q23	I would like to see a research paper on children with limb discrepancies and siblings with ‘other’ issues. I have met other families [at the orthopaedic clinic] (as well as our own) with multiple siblings that have different issues.
Q24	[Medical Genetics] consult was not helpful because they had no answers and offered a termination… I initiated the referral to orthopaedics when I was pregnant… orthopaedics gave me more information about possibilities for my child’s future.

Eighty per cent of the parents did not recall being referred to a support group by a HCP (Table 1). One parent commented he/she sought out a support group independently (Table 2; Q11). Parents who participated in a support group were asked to rate the quality of information and emotional support provided (Table 1). Of the parents who responded, 75% of the parents rated the quality of information as very satisfactory; 25% stated it was satisfactory. No parents rated the information as neutral, dissatisfactory, or very dissatisfactory. Twenty-five per cent of the parents stated the emotional support provided was very satisfactory, 50% as satisfactory, and 25% stated they were neutral. No parents reported the emotional support as dissatisfactory or very dissatisfactory. One parent commented how the support group offered new perspectives (Table 2; Q12).

Communication of information to patients and families with CLD

Parents were asked whether their child had been given a diagnosis and to name the specific diagnosis. Forty-eight per cent of the parents could not correctly recall their child’s specific diagnosis (Table 1). Twenty per cent of the parents perceived that their child had not been diagnosed with a specific disorder. Seventy-two per cent of the parental classifications did not correspond to specific clinical classifications (Table 1). All parents who incorrectly classified his/her child’s CLD over-represented their child’s deficiency by indicating the entirety, or a larger portion, of the affected limb (Table 3).

Table 3.

Parental understanding of their child diagnosis and nature of limb deficiency using Gold et al. classification system

Clinic ID	Clinical diagnosis	Parental diagnosis	Agree? (Y/N)	Clinical classification	Parental Gold classification	Agree? (Y/N)
1	Congenital short femur	Congenital short femur	Y	A	A	N
2	Fibular hemimelia, foot deformity (related)	Fibular hemimelia	Y	F	A	N
3	Fibular hemimelia	No diagnosis	N	F	O	N
4	Fibular hemimelia	No diagnosis	N	F	C	N
5	Congenital short femur	Femoral deficiency	Y	A	A	Y
6	Transtibial amputation with amniotic bands	Amniotic band syndrome	Y	C	C	Y
7	Fibular hemimelia	Cannot remember	N	F	A	N
8	Central deficiency (second ray) R foot	No diagnosis	N	E	C	N
9	Fibular hemimelia	Fibular hemimelia	Y	F	F	Y
10	Fibular hemimelia	Leg length discrepancy	N	F	A	N
11	Fibular hemimelia	Fibular hemimelia	Y	F	B	N
12	Bilateral fibular hemimelia	Bilateral fibular hemimelia	Y	F	C	N
13	Fibular hemimelia, absent digits in upper limb	Cannot remember	N	F, E	A,C	N
14	Fibular hemimelia, missing 3 toes	No diagnosis	N	F	B	N
15	Fibular hemimelia	Fibular hemimelia	Y	F	C	N
16	Fibular hemimelia	Fibular hemimelia	Y	F	C	N
17	Fibular hemimelia	No diagnosis	N	F	B	N
18	Fibular hemimelia	Cannot remember	N	F	F	Y
19	Fibular hemimelia	Fibular hemimelia	Y	F	-	-
20	Bilateral fibular hemimelia	Bone malformation of both lower legs	N	F	F	Y
21	Congenital short femur	Left leg discrepancy	N	A	A	Y
22	Tibial hemimelia requiring transtibial amputation	Tibial hemimelia	Y	D	C	N
23	Fibular hemimelia requiring amputation	Fibular hemimelia	Y	F	C	N
24	Fibular hemimelia	Fibular hemimelia	Y	F	A	N
25	Fibular hemimelia	Leg length discrepancy	N	F	A	N

Parents were asked to comment on the information provided by HCPs. Fifty-six per cent of the parents reported they sought out additional resources after speaking to HCPs (Table 1). Three parents spoke about the need for more information during diagnosis, two parents highlighted the need for HCPs to discuss future outcomes, and one noted that information gave her/him a sense of power (Table 2; Q13-17). Two parents noted that visuals such as x-rays and ultrasounds were helpful (Table 2; Q18-19).

Medical genetics

Thirty-six per cent of the parents reported that they were informed of their child’s deficiency before their child was born (Table 1). Of those parents diagnosed prenatally, 77.8% were referred to medical genetics, while 22.2% did not recall being referred to medical genetics. None of the parents who found out about their child’s deficiency after birth recalled being referred to medical genetics. Seventy-two per cent of the parents reported that they did not know the cause of their child’s CLD (Table 1). Three parents commented on the need for more information regarding the cause of their child’s CLD (Table 2; Q20-22). Two showed interest in genetic causes, family planning, and family history (Table 2; Q22-23). Two parents commented about the need to initiate the referral to orthopaedics, one of whom was informed prenatally (Table 2; Q24).

DISCUSSION

This study aims to answer how additional emotional support can be offered to parents in clinical practice, and what resources would be most beneficial for families. With respect to the demographic findings, CLD are more common in males, which was consistent with our findings (3).

Parents reported being satisfied with the information and emotional support provided by support organizations. Despite this, the majority of parents in our study did not recall being referred to a support group by a HCP. Offering referrals to support groups, and following up with families to remind them of the resources available could help to increase patient supports. Not all parents in our study reported needing additional emotional support by HCPs. The severity of the limb deficiency appeared to be associated with parental need for additional emotional support. Notwithstanding, parents of children with mild CLD should routinely be offered emotional support and resources. As one parent stated, no emotional support was needed, nor has it been offered. This misperception may lead to missed opportunities for HCPs to provide parents with resources. Parents may perceive they do not need support presently, but future challenges may impact this need. The benefits of peer counselling has been suggested in previous literature, and was supported by our findings (5). With this knowledge, the limb lengthening and reconstruction clinic at BCCH has initiated programs to establish secure online platforms such as Upopolis (www.upopolis.com), for children with limb deformities to provide peer-to-peer support to one another. They have also initiated programs such as waiting room facilitation, to encourage the families to interact and provide peer support. Other resources that are underway include a Facebook support page for parents and a resource website that can be recommended by HCPs. These initiatives aim to provide additional resources for families frequenting orthopaedic clinics. Peer support in the form of social media has been proven to be important for families, particularly in the rare disease space (21).

Previous literature has shown that many parents require ample information regarding the nature of their child’s diagnosis (13,14). Parents may require multiple discussions with HCPs regarding diagnosis, due to the overwhelming amount of information provided, along with the emotional weight of the situation (22,23). Twenty per cent of the parents in our study reported that their child did not have a specific diagnosis, indicating the need for additional information for parents. HCPs need to consider appropriate timing when discussing a diagnosis with a parent. Identifying when parents are in a better position to listen may result in more effective communication. Parents may require repetition, learning tools, and/or written summaries to fully absorb information. Visual aids can assist physicians when communicating diagnosis to parents. Furthermore, improved communication strategies may help satisfy the parental need for external information. Our results suggested that parents tend to seek out additional information regarding CLD using the internet. This can generate more questions, and worry for parents (22). HCPs could assist in narrowing parents’ online searches by providing websites, support groups, or databases that give reliable information for parents. Our results demonstrated that many parents overestimated the severity of their child’s CLD, based on their classification. With respect to classification of deficiency, parents were often able to circle the general area of their child’s CLD, but had difficulty choosing a diagram that truly represented the defect. The tool utilized in our study may have been not been appropriate for some parents, but was utilized due to its lack of rigidity. Parents who appeared unable to classify their child’s deficiency may be over-represented. However, our data suggest that parents are lacking the knowledge required to depict their child’s deficiency, identify the diagnosis, and causation.

CLD can be the first phenotypic indicator of an underlying genetic condition. Parents in our study commented on the ‘unknown’ factors regarding their child’s CLD and the worry that accompanies unanswered questions. Genetic testing could help identify the cause when appropriate. Due to the fact that the majority of our patients had isolated fibular hemimelia, which is not a single-gene Mendelian disorder, may explain why referrals to genetics were not initiated. Regardless, our study suggests there is an interest from families to have a better understanding of the cause of their child’s CLD. Genetic counsellors are typically Master’s trained, board certified individuals with expertise in providing education and emotional support for patients and families dealing with a potential or established diagnosis. Integration of genetic counsellors into orthopaedic clinics could provide emotional support for families, by discussing genetic/multifactorial/vascular causes of CLD (depending on phenotypic presentation), recurrence risks, and family planning for parents considering additional children. Genetic counsellors can also serve as an important resource to bridge communication between specialties and the benefit of their inclusion as part of a multidisciplinary team has been demonstrated in various disciplines in medicine including radiology, cardiology, and otolaryngology (19,24–28). In the case of CLD, having an individual who is aware of both the orthopaedic treatments and genetic testing options for future care, would offer a broader range of information for families when it comes to decision making. Parents in our study commented that being given options and discussing future outlooks for their child was beneficial. One participant in our study stated their referral to orthopaedics was more helpful relative to medical genetics during pregnancy. The participant felt orthopaedics provided a more informed picture of what the future would look like if the family decided not to terminate the pregnancy. Research has reported that multidisciplinary approaches for prenatal diagnosis of cleft palate resulted in a drop in the number pregnancy terminations after diagnosis due to prenatal counselling and adequate information sharing (21). Additionally, a multidisciplinary approach to the prenatal evaluation of fetal anomalies, with the radiologist reviewing the images with the genetic counsellor, subspecialist and family brings the team together and helps to unify the diagnosis. This results in decreased confusion for families and optimizing support for the family (19). Other authors have identified the importance of a multidisciplinary approaches to patients with congenital malformations (27,28). Embedding a genetic counsellor in cardiology clinics helps address gaps in clinical genetics care (26).

The objective of the study was to look at the experiences of patients diagnosed with CLD and their parents in British Columbia. Key findings were need of additional emotional support, both during initial diagnosis and in follow-up. This study highlighted the need for communication strategies for physicians when describing a child’s diagnosis to parents. Parents commented they wished to receive additional information regarding their child’s deficiency, suggesting educational resources are in need of improvement. Finally, this study suggests that the integration of genetics and effective communication between specialists, may improve overall experiences of parents and children affected by CLD.

LIMITATIONS

The small sample size of our study (n=25) is not representative of the entire CLD population. Most of the families had children who were diagnosed with fibular hemimelia. Due to this cohort being strongly represented in this study, we may not have fully demonstrated the unique experiences of all patients with CLDs. Not all participants had the same degree of limb deficiency, but in spite of this, common themes were established (the lack of emotional support and diagnostic knowledge).

Funding Information: This research was funded by the Rare Disease Foundation and BC Children’s Hospital Research Institute (AME). JC was supported in part by the UBC Work Learn Program.

Potential Conflicts of Interest: AC reports non-financial support from Pega Medical, academic consultation fees from Vilex and grants from Vilex outside the submitted work. No other reported conflicts of interest. All authors have submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Conflicts that the editors consider relevant to the content of the manuscript have been disclosed.