Download Ophthalmic Disorders Among Children with Down Syndrome: An

Ophthalmic Disorders Among Children with Down Syndrome: An Insight
Into Parents’ Knowledge, Awareness Level and Attitude
ABSTRACT
Objectives: This study attempts to probe into parents’knowledge, awareness and attitude
regarding management of ophthalmic disorders among children with Down syndrome (DS).
Patients and Methods: This cross-sectional study was conducted during the World Down
Syndrome Day event on March 21, 2013 in Jeddah, Saudi Arabia. Parents of children with DS
who attended the event were requested to participate in the survey by responding to a
questionnaire. The questionnaire assessed parents' knowledge, awareness level and attitudes
toward common eye diseases that affect children with DS. Descriptive and analytical statistical
methods were used to analyze data, data were collected on 21st of march, analyzed and written
between that day and February 2014.
Results: A total of 72 parents accepted to respond to the questionnaire. Only 49 parents (74.2%)
reported taking their children for ophthalmology visits, and 27 (37.5%) among these reported
taking their children for routine visits at varying intervals. A total of 34 parents (51.3%) did not
perceive common ophthalmologic disorders in their children with DS.
Conclusions: Most parents are not aware of the ophthalmologic disorders that affect children
with DS. This highlights the need to embark upon large scale awareness campaigns to educate
parents of children with DS. Parent’s awareness is a crucial factor of early diagnosis and proper
follow up of ocular disorders in children with DS.
Keywords: Down syndrome, eye disorders, ocular diseases, ophthalmology, trisomy 21
INTRODUCTION
Down syndrome (DS), also known as trisomy 21, is a genetic disorder caused by the presence of
an extra copy of chromosome 21. It is the most common chromosomal abnormality in humans.
In Saudi Arabia, the incidence of DS has been reported to be 1 in 554 live births1; while in the
United States, 1 in every 691 babies is born with DS each year, according to the Centre for
Disease Control (CDC).2
Common eye problems that occur in any group of children are more frequent in those with DS
and sometimes tend to be more marked.3 Children with DS have obliquely placed eyes. The
internal canthi are more than normally distant from one another and the palpebral fissure is very
narrow. In addition to these external ocular features, several ocular manifestations; including
strabismus, nystagmus, keratoconus, cataract, hyperplasia of the iris, and refractive errors occur
more frequently in children with DS than in their healthy counteraprts.4, 5. The prevalence of
refractive errors (hyperopia, myopia, and astigmatism) reported in the medical literature ranged
between 3% and 62.3%.5, 6, 7, 8, 9, 10; while that of strabismus ranged between 5% and 35% 5,10, 11,
12
and that of esotropia was higher than that of exotropia in all the studies.5, 10, 11,12 Other ocular
disorders reported in patients with DS include conjunctivitis (5.6%–6.7%,6, 13 and glaucoma
(6.7%).13
Another study conducted at the University Eye Hospital of Ljubljana, Sloveniashowed that
ocular findings in children with DS included nystagmus (29.2%), esotropia (26.1%), epiphora
(21.5%), Brush field spots (16.9%), lens opacities (12.3%), abnormalities of the retinal vessels,
foveal hypoplasia or retinal pigment epithelium hyperplasia (32.2%), and optic disc pallor
(7.6%). Hyperopia (36.9%) was the most frequent refractive error in the group, followed by
astigmatism (29.2%) and myopia (24.6%).15
DS is almost always diagnosed at birth and it requires lifelong parenting and supervision. Hence,
parents’ awareness is crucial in the prevention and treatment of eye conditions in children with
DS. However, hitherto, there seems to be a serious dearth of medical evidence highlighting the
awareness and knowledge levels of parents of children with DS about ocular diseases and their
attitude towards this frequently reported complication of DS.
The current study was carried out to investigate awareness and knowledge levels and attitudes of
parents of children with DS toward ophthalmic disorders that are frequently encountered among
this category of children.
MATERIALS AND METHODS
A cross-sectional design, questionnaire-based survey was conducted among parents of children
with DS who attended the World Down Syndrome Day event, a public awareness campaign
organized on March 21, 2013 at King Abdulaziz University Hospitalin Jeddah, Saudi Arabia.
The questionnaire was presented to all attendees and explained by the investigators, to be autofilled by volunteering participants. The informed consent was orally obtained from all
participants prior to inclusion and the study was approved by the Biomedical Ethics Research
Committee of King Abdulaziz University.
In an attempt to increase the response rate, the questionnaire was designed in a simple fashion
including the following items: 1) child’s age and gender, 2) history of visits to an
ophthalmologist, 3) frequency of routine visits to a physician, 4) eventual participants’ source of
information on ophthalmic diseases, 5) awareness of participants about 15 listed eye conditions
(e.g. up-slanting eyes, epicanthal folds, myopia, hyperopia, strabismus…etc.) and 6) their
knowledge about the past or present existence of each of these conditions in their respective
children. The questionnaire underwent face and content validity prior to study.
Statistical Analysis
Data were analyzed using the Statistical Package for the Social Sciences (SPSS Inc., Chicago,
IL, USA), version 20.0. Descriptive statistics were performed to analyze all variables including
response patterns of the participants. According to the number of eye conditions acknowledged,
participants were divided into three knowledge-level categories: A) weak (0 to 4 conditions); B)
fair (5 to 9 conditions); and C) good (10 to 15 conditions) knowledge. Cross-tabulation was
performed to correlate the level of knowledge with the frequency of ophthalmology clinic visits;
as well as with the existence of ophthalmologic history in the affected child. Chi-square test was
used to analyze the correlation between categorical variables. Results were considered
statistically significant for a p-value of < .05.
RESULTS
All of the attendees (N=72) of the awareness campaign who were approached by the researchers
on a convenience sampling agreed to complete the questionnaire, representing a response rate of
100%. The age of the participants’ children affected with DS ranged between 1-36 years, with a
mean (SD) = 9.2 (6.9) years and a gender distribution as 31 (43.1%)males and 36 (50.0%) were
females; while gender of the child was not indicated in 5 (6.9%) of cases.
Half of the study participants (n=36; 50.0%) reported that their children had or had experienced
≤ 2 of the listed eye conditions and 30 (41.7%) reported ≥3;while only 6 responded that their
child had not experienced any ophthalmic disorder. Amongst the participants, 59 (81.9%)
reported a history of eye surgery in their children and none of them reported that their child was
blind.
Forty-nine participants (74.2%) reported taking their child for a visit to an ophthalmologist;
however, only 27 (55.1%) of these reported regularly taking them for a follow up visit (Table 1).
The most common and notable sources of information reported by a sizeable number of parents
were the internet (n=41; 56.9), following by ophthalmology clinics (n=28; 38.9%), and books
(n=22; 30.6%). Other sources reported by parents included television, media publications and
“word-of-mouth” information.
Table 2 shows the frequency of responses to questions that assessed the participants’ knowledge
of an ophthalmic disorder in their child with DS. Low awareness levels were noted among
participating parents, particularly regarding the common ophthalmologic conditions encountered
in children with DS, namely; glaucoma, cataract, strabismus, nystagmus, lacrimal duct
obstruction and corneal and retinal abnormalities.
Table 3 shows the frequency of ophthalmic conditions perceived or understood (terms were
explained by participants that matched the true definition or near full definition in text books) by
the participants and those reportedly experienced by their children. Notable findings include
epicanthal folds, up-slanting eyes and myopia to be the most frequently perceived
ophthalmologic disorders and, at the same time, the most frequently experienced by the
participant’s children. Cataract, glaucoma, strabismus and lacrimal duct obstruction were also
perceived as potential ophthalmologic problems by a sizeable number of parents in the study;
although they reported that their children had never suffered from any of these disorders.
Many parents did not perceive or understood common ophthalmologic disorders in their children
with DS, as suggested by the responses to questions that assessed the participants’ awareness of
common ophthalmologic conditions—the proportion of parents who were knowledgeable about
common eye disorders that affected children with DS was 48.5% (Table 4); however, the result
did not reach statistical significance.
Regarding the site of diagnosis, 41 of 63 participants (65.1%) who responded to the question
reported that their child’s ophthalmologic disorder was diagnosed at an ophthalmology clinic; 5
(7.9%) at a pediatric clinic; , and only one case at a family medicine clinic, while the remainders
11 (17.5%) of cases were diagnosed at other locations. Eleven parents (17.5%) reported the
disorder was diagnosed at birth.
DISCUSSION
This study is novel in its objective as this is the first attempt ever to assess parents’ awareness
levels and perception of common eye disorders among their children with DS. As a result, the
findings of this study could not be contrasted with other previous comparable data. However,
findings emanating from studies performed among the general population revealed that parents
generally fail to recognize the commencement of visual disturbances in their children. A recent
study by the Vision Council of America reported that 27% of parents and guardians who had not
taken their children for an eye exam believed that their children were too young to develop
vision problems.16 Probably one of the most alarming findings of the previous study is the
misplaced belief among the common masses that eye check-ups are only necessary when a vision
problem appears or when a pair of spectacles is needed.16
In our study, 49 of 66 parents (74.2%) reported taking their children for a visit to an
ophthalmologist and only 27 (55.1%) admitted taking their children for a follow up visit. This
leads us to infer that DS-related ophthalmologic disease may be unreported, and thus
undiagnosed, in several cases. In several other instances, cases might be lost to follow-up.
Underdiagnoses, under-reporting and delayed diagnosis of visual disorders is likely to be the tip
of the iceberg among all the medical concerns in DS. Consequently, children with DS may be at
greater risk for developing end-stage eye complications including impaired vision.
Although our questionnaire was administered in the local language, using simple words and
avoiding as much as possible the use of medical terminology or professional jargon, we found
that ocular conditions were unfamiliar to some parents whose children might have experienced
or were experiencing such conditions at the time of the survey. On the other hand, with regards
to the main objective of our study, we observed variable levels of awareness and knowledge
between the specific eye disorders when each was investigated separately.
We demonstrated that common ophthalmic disorders were insufficiently known by parents of
children with DS, as evidenced by the low frequency (48.5%) of their accurate identifications in
the study participants. Regarding knowledge sources, parents mainly obtained information about
ophthalmic disorders from the internet and ophthalmology clinics.
Because eye disorders are more common in children with DS 4, 5, it is crucial for parents of
patients with DS to be more aware of ophthalmic diseases that may affect their children. 3 Health
care providers should organize public awareness campaigns to promote routine regular follow up
visits in children with DS, including ophthalmologic visits. Education programs could be
organized at ophthalmology clinics, using visual and audio material focusing on eye health in
children with DS. Parents’ participation is crucial to the care of patients with DS. Therefore
improving parents’ knowledge and raising their awareness about the increased ophthalmologic
risk in their children is a critical determinant in the primary and secondary prevention of
ophthalmic disorders, ensuring early diagnosis and proper follow up.
This study has some limitations that warrant discussion. First, the small sample size of 72 is not
representative of the population of children with DS in Jeddah. In addition, participants were
recruited during an awareness campaign, which may constitute an important selection bias as the
voluntary attendance of such events suggests the preexistence of a basic level of awareness.
Moreover, we did not collect participants’ demographic data, mainly for the sake of
simplification. However, findings of a study conducted in families of children with DS showed
that family demographics were likely to be important factors for healthy family function and
consequently for the quality of care of children with DS.17 Further large scale multi-centric
evaluations are warranted to reach more robust results and conclusions regarding the issue,
which may provide decisive and constructive information to improve the management of patient
with DS in the future.
Conclusion
Major lacunae exist in knowledge and awareness about the ophthalmic risk associated with DS,
among parents of afflicted children. Epicanthal folds, up-slanting eyes and myopia were the best
known among the investigated ophthalmologic disorders; probably because they were the most
frequently experienced by the participant’s children. On the other hand, more common
ophthalmologic conditions, such as glaucoma, cataract, strabismus, nystagmus and lacrimal duct
obstruction were associated to lower awareness levels.
Given that parents’ participation is crucial to the care of patients with DS, educating parents and
raising their awareness about the increased ophthalmologic risk in their children is a determinant
factor for early diagnosis and proper follow up of ophthalmologic disorders in these patients. We
recommend the use of Down Syndrome Medical Interest Group guidelines, which were
developed for people with DS to outline the basic medical essentials of follow up of their
disease.18
REFERENCES
1. Al-Shawaf R Al-Faleh W. Craniofacial Characteristics in Saudi Down's syndrome. King
Saud University Journal of Dental Sciences. 2011; 2(1): 17-22.
2. Centers for Disease Control and Prevention [Internet]. Birth Defects: Facts about Down
Syndrome [updated 2013, Nov 6; cited 2013, Feb 2]. Available from:
http://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html.
3. Down’s Syndrome Association, Medical Series, 6. Eye Problems in Children with Down's
Syndrome [updated 2007, Aug; cited 2013, July 15]. Available from:
http://www.dsmig.org.uk/library/articles/dsa-medical-series-6.pdf.
4. Liyanage S, Barnes J. The eye and Down's syndrome. Br J Hosp Med (Lond). 2008;69(11):
632-634.
5. Ebeigbe JA, Akpalaba R. Ocular health status of subjects with Down's syndrome in Benin
City, Nigeria. Afr J Med Med Sci. 2006;35(3):365-368.
6. Hanan H, Amira A, Azeem A, El-Bassyouni HT, Gheith ME, Rizk A. Ocular findings and
management in Egyptian children with Down syndrome. J Am Sci. 2011;7:782–788
7. Adio AO, Wajuihian SO. Ophthalmic manifestations of children with Down syndrome in
Port Harcourt, Nigeria. Clin Ophthalmol. 2012;6:1859-1864.
8. Akinci A, Oner O, Bozkurt OH, Guven A, Degerliyurt A, Munir K. Refractive errors and
strabismus in children with Down syndrome: a controlled study. J Pediatr Ophthalmol
Strabismus. 2009;46(2):83-86.
9. Fimiani F, Iovine A, Carelli R, Pansini M, Sebastio G, Magli A. Incidence of ocular
pathologies in Italian children with Down syndrome. Eur J Ophthalmol. 2007;17(5):817-822.
10. Motley WW, Saltarelli DP. Ophthalmic manifestations of mosaic Down syndrome. JAAPOS.
2011;15(4): 362-366, American Association for Pediatric Ophthalmology and Strabismus.
Published by Mosby, Inc, United States.
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children with Down syndrome. Clin Exp Optom. 2010;93(2):83-90.
12. Deacon MA, Woodhouse JM, Watts PO. Investigation of ocular alignment and binocular
single vision in children with Down’s syndrome. Int Congr Ser. 2005;1282:88–92.
13. Liza-Sharmini AT, Azlan ZN, Zilfalil BA. Ocular findings in Malaysian children with Down
syndrome. Singapore Med J. 2006;47(1):14-19.
14. Mohd-Ali B, Mohammed Z, Norlaila M, Mohd-Fadzil N, Rohani CC, Mohidin N. Visual and
binocular status of Down syndrome children in Malaysia. Clin Exp Optom. 2006;89(3):150154.
15. Stirn Kranjc B. Ocular abnormalities and systemic disease in Down syndrome. Strabismus.
2012;20(2):74-77.
16. Our Vision for Children’s Vision, 2008, Prevent Blindness America, [Cited 2013 Nov
17].available from: http://www.preventblindness.net/site/DocServer/08045_OVFCV_small.pdf?docID=1601.
17. Hsiao CY. Family demands, social support and family functioning in Taiwanese families
rearing children with Down syndrome. J Intellect Disabil Res. 2013 May 20. doi:
10.1111/jir.12052.
18. Charleton P, Croft B, Dennis J, Ellis J, McGowan M, Woodhouse M, Down Syndrome
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http://www.dsmig.org.uk/library/articles/Guideline%20vision%20revision%202012.pdf.
Table 1. Results showing the participants’ attitude towards ophthalmic care
Variables
Frequency (percent)
Ever took child for a visit to an ophthalmologist (n=66)
Yes
49 (74.2)
No
17 (25.8)
Ever took child for follow up visits (n=66)
Yes
27 (40.9)
No
39 (59.1)
Frequency of follow up visits (n=49)
Only when needed
22 (33.3)
Every 6 months
19 (28.8)
Once a year or more
8 (12.1)
Sources of knowledge about Down-related ocular diseases
Internet
41 (56.9)
Television
12 (16.7)
Books
22 (30.6)
Newspaper and magazines
4 (5.6)
Ophthalmology clinic
28 (38.9)
Word of mouth and others
6 (8.3)
Table 2. Parents’ knowledge of an ophthalmic disorder in their children with Down
syndrome
Symptom or Condition
Yes (present in No (absent in
Do not know
the child)
the child)
Up-slanting eyes
38
16
18
Epicanthal folds
28
23
21
Myopia
24
24
24
Hyperopia
12
31
29
Strabismus
18
42
12
Lacrimal duct obstruction
13
36
23
Nystagmus
7
30
35
Cataract
4
49
19
Glaucoma
1
52
19
Blepharitis
18
38
16
Corneal abnormalities
2
41
29
Retinal abnormalities
1
42
29
Amblyopia
7
37
28
Brush field spots
0
32
40
Keratoconus
0
27
45
173
520
387
Total1
1
The total is greater than 72 because some participants selected more than one condition or symptom that was
experienced by their child.
Table 3. Summary of parents’ perception of common ophthalmologic conditions among
children with Down Syndrome
Symptom or condition
Yes
No
Total perceived
Perceived and
(Perceived but
experienced
not experienced)
Up-slanting eyes
38
16
54
Epicanthal folds
28
23
51
Myopia
24
24
48
Hyperopia
12
31
43
Strabismus
18
42
60
Lacrimal duct obstruction
13
36
49
Nystagmus
7
30
37
Cataract
4
49
53
Glaucoma
1
52
53
Blepharitis
18
38
56
Corneal abnormalities
2
41
43
Retinal abnormalities
1
42
43
Amblyopia
7
37
44
Brush field spots
0
32
32
Keratoconus
Total1
1
0
27
27
173
520
387
The total is greater than 72 because some participants selected more than one condition or symptom that was
experienced by their child.
Table 4. Relationship between clinic visits and the participants’ knowledge1
Group
Never visited
Group Knowledge
Total
Weak
Fair
Good
knowledge2
Knowledge3
Knowledge4
3 (17.6)
4 (23.5)
10 (58.8)
17 (100.0)
11 (22.4)
16 (32.7)
22 (44.9)
49
p-value
a clinic
Visited a
.610
(100.0)
clinic
Total
14 (21.2)
20 (30.3)
32 (48.5)
66
(100.0)
1
Data are presented as frequency (percent) unless otherwise specified.
Weak knowledge or not at all represents parents who know ≤3 conditions.
3
Fair knowledge represents parents who know 4-7 conditions.
4
Knowledgeable represents parents who know ≥ 8 conditions.
2