Background: Duchenne muscular dystrophy (DMD) is the most common X-linked dystrophinopathy characterized by a chronic progressive neuromuscular degeneration. Early diagnosis and interventions may delay or prevent its complications. A factor that affects prompt diagnosis is the healthcare-seeking behavior of the parents. With the ultimate goal of improving care and outcomes of patients with DMD, this study aimed to assess caregivers’ healthcare-seeking behavior in a developing country.
Methods and Results: Using a prospective cross-sectional study, factors affecting the parental healthcare-seeking behavior of patients with DMD were investigated. A total of 55 parents participated. There is delay between the mean age (4 + 2.3 years) when first symptom was noted and the first medical consult (6.6 + 2.3 years). Furthermore, there is a delay of 4.5 + 1.1 years from the symptom onset to DMD confirmation as majority opted observation and traditional medicine prior to physician consult. Upon medical consultation, multiple variables also affected arrival to a diagnosis. Facilitating factors include the first physician handling the patient doing a diagnostic evaluation or alleviating caregiver concern, a positive family history, and physical therapist or pre-school teacher recognizing the problem. Impeding factors include cultural beliefs, financial constraints, alternative diagnosis or non-action by the physician, parental non-compliance to medical advice, and family logistics.
Conclusion: The identified factors affecting prompt arrival to diagnosis should be the target of local healthcare systems as areas of development in order to translate to timely treatment and intervention and thus a better quality of life for patients with DMD.
Keywords: Duchenne muscular dystrophy, health-seeking behavior
INTRODUCTION
Duchenne muscular dystrophy (DMD) is the most commonly
encountered X-linked recessive neuromuscular condition with an estimated
prevalence of 1 in 3500 to 5000 male births. Together with Becker muscular
dystrophy (BMD), it is in the spectrum of a group of diseases called
dystrophinopathies.
Dystrophinopathies are a result of genetic mutations,
primarily exon deletions leading to out- or in-frame mutations resulting to
absent or a partially functional dystrophin protein, respectively.
Care for patients with DMD will require a
multidisciplinary approach involving several specialists. The condition
undergoes through progressive five clinical stages – 1) pre-symptomatic, 2)
early ambulatory, 3) late ambulatory, 4) early non-ambulatory and 5) late
non-ambulatory.
Early diagnosis provides the best opportunity for
maximum benefit from the current standard of care and access to novel
therapies.
Health-seeking behavior is defined as all the
activities undertaken by the individuals who perceive to have a health problem
for the purpose of finding an appropriate remedy. A model was used to describe
and characterize the health-seeking behavior of parents. There are four stages
of this help seeking behavior - 1) problem recognition, 2) decision to seek
help, 3) service selection and 4) service utilization. This model suggests that
all families pass through a unidirectional movement along each stages which is
controlled by a complex interplay of factors such as 1) predisposing
characteristics, 2) social networks, 3) cultural factors, 4) enabling resources
and 5) barriers to care.
Given such model, the authors opted to characterize
the parental health-seeking behaviors of the caregivers of DMD patients in
order to identify the challenges and recommend targeted strategies in
facilitating early diagnosis, prompt intervention and optimal outcomes among
Filipino DMD patients.
METHODS
This study was approved by the Institutional Review
Ethics Board. Utilizing a prospective cross-sectional design, our study
investigated the factors affecting the healthcare-seeking behavior of parents
or caregivers of pediatric patients aged less than 19 years old diagnosed with
Duchenne muscular dystrophy seen at the Multidisciplinary Neuromuscular Clinic
of the University of the Philippines – Philippine General Hospital (UP- PGH).
With informed consent, the caregivers were requested to participate in an
interview.
The study identified the facilitating and impeding
factors that affected their healthcare-seeking behaviors. Descriptive
statistics were used to summarize the demographic and clinical characteristics
of the patients. Frequency and proportion were used for categorical
variables.
RESULTS
Demographic Profile of the Patients
The study recruited 55 respondents who were parents of
children with genetically-confirmed DMD. Majority
(52.73%) belongs to the 6 to 10-year old
group while 40% are already adolescents. Almost half (47%) are in their 4th
stage of the illness at the time of study.
Majority of the participants are
Roman Catholics and 95% percent are enrolled in a government educational
institution. Two patients attend an individualized education program (Table
1).
Demographic Profile of the Parents or
Caregivers
All caregivers interviewed in the study are parents of
the patients (n=55). Half belong to the young adult age group while the rest
are of middle age. About one-half of the family resides in the urban area within
50-100 km distance from the multidisciplinary clinic at the UP-PGH. One-fifth
of the cohort resides at a distance of more than 250 km.
Table 1. Demographic
profile of patients
Characteristics |
n |
% |
|
Age (n
= 55)
|
0 to less
than 3 years old |
0 |
0 |
3 to less than 6 years old |
4 |
7.27% |
|
6 to less
than 10 years old |
29 |
52.73% |
|
10 to less than 19 years old |
22 |
40% |
|
Ethnicity (n
= 55)
|
Bisaya |
5 |
9.09% |
Bicolano |
6 |
10.91% |
|
Ilocano |
3 |
5.45% |
|
Ibanag |
1 |
1.82% |
|
Tagalog |
40 |
72.73% |
|
Religion (n
= 55)
|
Roman Catholic |
41 |
74.55% |
Christian |
9 |
16.36% |
|
Iglesia ni Cristo |
2 |
3.64% |
|
Jehovah’s
Witness |
1 |
1.82% |
|
Muslim |
1 |
1.82% |
|
Protestant |
1 |
1.82% |
|
Current form
of education (n
= 55)
|
School |
0 |
0 |
Homeschooling |
41 |
74.55% |
|
Individualized Education
Program |
2 |
3.64% |
|
None (out of
school) |
12 |
21.82% |
|
Type of
school (n
= 43) |
Private |
2 |
4.65% |
Public |
41 |
95.35% |
|
Current stage
of illness (n
= 55)
|
Stage 1 |
2 |
3.64% |
Stage 2 |
14 |
25.45% |
|
Stage 3 |
13 |
23.64% |
|
Stage 4 |
26 |
47.27% |
|
Stage 5 |
0 |
0 |
Forty-three percent of parents are college graduates
while one-third finished high school. Six out of 10 participants come
from low and lower middle income families with an annual income of less than
Php 400 000.
Nuclear family set-up is observed in half of the
participants. More than half of the patients with DMD have two to three
caregivers at the same time. Secondary caregivers included grandparents,
siblings, aunts, uncles and hired staff. The mean duration of care the
primary caregivers in this cohort has spent until the diagnosis was made is 7
years. Those with secondary caregivers have a mean duration of 3 years until
confirmation of DMD. (Table 2)
Problem Recognition Profile of the
Caregivers
The mean age of onset of the symptom of the patients
included in this study is 4 (+2.3) years old. Symptom onset is between
age 3 to 6 years old in nearly half of boys.
On the other hand, the mean age on first medical
consult is at 6.6 (+2.31) years old. This is a 2.6 years delay from the
mean age of the onset of symptoms. Ninety-five percent of the patients are in
the first two stages of the disease on first medical consult. The remaining
were first brought to medical attention only upon reaching the Stage 3 of the
illness.
Table
2. Characteristics and demographic profiles of caregivers
Characteristics |
|
n |
% |
Number
of caregivers the patient had from birth to time of diagnosis |
1 |
23 |
41.82% |
2 to 3 |
32 |
58.18% |
|
4
to 5 |
0 |
58.18% |
|
More than 5 |
0 |
0 |
|
Mean
Duration (years) per caregiver (For patients with >1 caregiver) |
Primary
Caregiver |
7.44 |
|
Secondary Caregiver |
2.94 |
||
Number
of caregivers |
1 |
23 |
41.82% |
|
2 to 3 |
32 |
58.18% |
|
4
to 5 |
0 |
0 |
Age |
Young adult
(20 less than 40 years old) |
28 |
50.91% |
|
Middle
age (40 to less than 60 years old) |
27 |
49.09% |
|
Old age (60
years old and above) |
0 |
0 |
Type
of Residential Area |
Urban |
30 |
54.55% |
|
Rural |
25 |
45.45% |
Distance
away from hospital |
<20
km |
5 |
9.09% |
|
20 – 50 km |
5 |
9.09% |
|
50
– 100 km |
25 |
45.45% |
|
100 – 200
km |
8 |
14.55% |
|
>250
km |
12 |
21.82% |
Educational
Attainment |
Elementary
undergraduate |
0 |
0 |
|
Elementary
graduate |
0 |
0 |
|
Highschool
undergraduate |
2 |
3.64% |
|
Highschool
graduate |
19 |
34.55% |
|
College
undergraduate |
8 |
14.55% |
|
College
graduate |
24 |
43.64% |
|
Vocational
course |
2 |
3.64% |
Annual
Total Family Income |
|
14 |
25.45% |
|
(Low
income) |
||
|
Php
250 000 – Php 400 000 (20 000 – 33 000) |
21 |
38.18% |
|
(Lower
middle income) |
||
|
Php
400 000 – Php 800 000 (33K to 66K) |
7 |
12.73% |
|
(Middle
income) |
||
|
Php
800 000 – Php 2 000 000 (66K – 166K) |
13 |
23.64% |
|
(Upper
Middle income) |
||
Family
type |
Nuclear |
29 |
52.73% |
|
Solo
Parenting |
5 |
9.09% |
|
Extended |
21 |
38.18% |
The most common first symptoms noted by
their parents are the abnormal gait and the Gower’s sign with some noting
concomittant non-motor manifestations. Such non-motor symptoms include
behavioral issues, cognitive delay, learning and attentional issues and speech
delay. Most of the parents the persons recognizing the problems are the
parents in 90%
The mean time interval between first notice of these
symptoms until confirmation of DMD is 4.5 (+1.1) years. One-third of the
patients had their confirmatory test done at an interval of one to less than
three years from the onset of signs and symptoms.
Table
3. Problem recognition of caregivers
Factors |
n |
% |
|
Age
of patient at the onset of symptom |
0
to less than 3 years old |
15 |
27.27% |
3 to less
than 6 years old |
27 |
49.09% |
|
6
to less than 10 years old |
13 |
23.64% |
|
Age
of patient on first medical consult |
0 to less
than 3 years old |
4 |
7.27% |
3
to less than 6 years old |
9 |
16.36% |
|
6 to less
than 10 years old |
40 |
72.73% |
|
>10
years old |
2 |
3.64% |
|
Stage
of Illness on 1st medical consult: |
Stage 1 |
30 |
54.55% |
Stage
2 |
22 |
40% |
|
Stage 3 |
3 |
5.45% |
|
Stage
4 and 5 |
0 |
0 |
|
First
symptom noted |
MOTOR |
|
|
Abnormal gait |
46 |
83.64% |
|
Calf pseudohypertrophy |
10 |
18.18% |
|
Decreased endurance |
4 |
7.27% |
|
Difficulty climbing stairs |
7 |
12.73% |
|
Frequent falling or clumsiness |
21 |
38.18% |
|
Gower's sign on rising from floor |
32 |
58.18% |
|
Gross motor delay |
4 |
7.27% |
|
Hypotonia |
4 |
7.27% |
|
Inability to keep up with peers |
1 |
1.82% |
|
Loss of motor skills |
1 |
1.82% |
|
Muscle pain or cramping |
2 |
3.64% |
|
Toe walking |
25 |
45.45% |
|
Difficulty running or climbing |
4 |
7.27% |
|
NON-MOTOR |
|
|
|
Behavioral issues |
17 |
30.91% |
|
Cognitive delay |
7 |
12.73% |
|
Poor weight gain |
12 |
21.82% |
|
Learning and attentional issues |
7 |
12.73% |
|
Speech delay or articulation difficulties |
2 |
3.64% |
|
Person
who first noticed the problem |
Parents /
Caregivers |
49 |
89.09% |
Relatives |
6 |
10.91% |
|
Friends |
1 |
14.29% |
|
Non-physician
healthcare professional |
1 |
5.56% |
|
Time
interval between note of symptoms and confirmation of Duchenne muscular
dystrophy |
Less than 1
year |
0 |
0 |
One
to less than 6 months |
1 |
1.82% |
|
Six to less
than 12 months |
9 |
16.36% |
|
One
year to less than three years |
17 |
30.91% |
|
Three to
less than six years |
16 |
29.09% |
|
More
than 6 years old |
12 |
21.82% |
Factors Affecting Decision to Seek Help
Among the study participants, 42% opted to observe
when they noticed the early signs and symptoms of DMD but 75% eventually
decided to seek medical consult upon worsening of these manifestations. Twelve
out of 55 parents have waited a minimum interval of less than 1 year before
bringing the patient to medical consultation.
The reasons for the delay in medical consult are
multifactorial. These included hesitancy (78.18%), financial constraints
(41.82%), difficulty finding time to schedule a physician (12.73%), lack of
knowledge (7.27%) and preference to go to a traditional healer (1.82%).
Approximately 40% of the patients were initially seen
by a general pediatrician but only half of this group were eventually referred
to pediatric neurologists.
Factors Affecting Service Selection
Service selection is affected by several factors. In
this cohort, half of the first physicians to see their respective patients
already initiated a diagnostic evaluation eventually arriving at the proper
diagnosis. Thirteen patients were identified to have a family history of DMD
hence the medical diagnostics were immediately facilitated after the first
medical consult. Other factors influencing facilitation of the medical
diagnostics include 1) physician alleviating the caregiver concern, 2) physical
therapists identifying the problem and 3) advice from family, friends and
pre-school teacher. (Figure 1)
Figure 1. Factors affecting arrival to diagnosis
On the contrary, multiple variables have been identified that impeded moving towards the correct diagnosis. These include 1) cultural belief that there is no problem, 2) financial constraints, 3) misdiagnosis by the initial medical officer, and 4) unavailability of a pediatric neurologist. (Figure 1)
DISCUSSION
Boys with DMD typically present at two to five years
old with abnormal gait, often as toe walking and in some as delayed gait onset.
The natural history of DMD has been described to be
composed of 5 stages. Upon note of suggestive symptoms, a prompt referral to a
child neurologist or a neuromuscular specialist should be done. A markedly
elevated serum CK increases the index of suspicion. Pre-genetic counseling
At the time they get the proper medical attention for
DMD, the physicians and the caregivers are now faced with multiple
complications from the chronic illness. Significant complications include
respiratory insufficiency, scoliosis, and secondary cardiomyopathy.
At present, the overall mean age for respiratory death
is 17.7 years for those without ventilatory support but may extend to 27.9
years for patients with ventilatory support. Case reports of survival up to the
third decade of life are possible but uncommon.
About 85-90% develops dilated cardiomyopathy at 18
years of age. Low levels of pulmonary function and skeletal-muscle
impairment make them poor candidates for heart transplant.
The mainstay of treatment includes physiotherapy and
glucocorticoid administration yielding the best outcome if started at an early
age. Prednisone is often prescribed however some experts routinely use
deflazacort for DMD owing for its more favorable side effect profile compared
with prednisone particularly weight gain.
Care for patients with DMD will require a
multidisciplinary approach involving specialists from the fields of pediatric
neurology, neuromuscular, clinical genetics, cardiology, pulmonology,
rehabilitation medicine, orthopedics, gastroenterology, nutrition and
endocrinology.
To achieve these benefits, early diagnosis is
essential. In a developing country like the Philippines, certain challenges are
present even before these patients arrive to the proper medical specialists.
From the end of the caregiver, multiple aspects affect early and prompt
diagnosis.
The first action taken by the caregivers in our study
upon note of the symptoms was not an immediate medical attention. Yet the majority
opted for observation and traditional medicine. Only 2 out of 10 of the
caregivers in the study immediately sought medical help upon notice of the
symptoms. Despite regulation for traditional medicines in the Philippines,
there are no approved therapeutic options available for this disease.
Eighty percent consulted at least a year after the
first symptom. Reasons like hesitancy, financial constraints, difficulty to
schedule a physician consultation, distance of the nearby health facility and
lack of knowledge were among their responses.
Upon initial consultation, only 10% get to see a
pediatric neurologist and about 50% of the DMD patients were evaluated by
a neurologist on their second consultation. Most of the caregivers originally
sought consultation with a general pediatrician before being referred to a pediatric
neurologist. Other specialists that were sought in the cohort include an
orthopedic surgeon, a physiatrist and a general physician. The subsequent
increase of pediatric neurologists seeing the patient reflects knowledge of the
first physician that the patient has a neurologic problem.
Despite having a correct clinical impression or a
differential diagnosis that could have arrived at the proper diagnosis, several
factors would influence this.
Upon the first medical consultation, a diagnostic
process is initiated by the physician in half of the cohorts. However, around
25% of the physicians started the diagnostic process only to alleviate the
concern of the caregiver. Other facilitating factors include a positive family
history, parents demanded the action, and the physiatrists were the ones who
recognized the symptoms. In a study by Daak-Hirsch et. al. the effect of
a positive family history for DMD has delayed the process of seeking help due
to parent’s readiness to face the diagnosis while others perceived it as
stigma.
On the other hand, around 25% of the first physicians
who saw the patient were reported to initially have an alternative diagnosis.
Only 5% of the first physician who saw the patient took no action. However,
several other reasons that impeded facilitating the medical service include
parents not following through the referral done, unavailable pediatric
neurologist, cultural belief that there is no problem, financial constraints
and a pregnant mother.
CONCLUSION
& RECOMMENDATIONS
Our study provides insights on the healthcare-seeking
behavior of parents in a developing country which affects timely diagnosis of
DMD. In the problem-recognition stage, a significant delay is contributed
by parents opting to observe the patient. This is influenced by cultural
beliefs that traditional medicine is an option in treating medical illnesses.
Disease worsening is the major reason in seeking medical consultation. This gap
in healthcare should stimulate exploring other possibilities for early
diagnosis of DMD such as newborn screening and possibly genetic testing for
suspected female carriers. Furthermore, improving the knowledge on this chronic
neuromuscular condition would translate better identification at the primary
care level and prompt referral to a specialist.
REFERENCES