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The Prevalence and Distribution of Spina Bifida in a Single Major Referral Center in Malaysia

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The Prevalence and Distribution of Spina Bifida in a Single Major Referral Center in Malaysia

Abstract and Figures

Background The aim of this study is to review the medical history of patients with spina bifida, encompassing both aperta and occulta types born between the years 2003 until 2016, spanning a 13-year time period. We assessed each patient and maternal parent information, details of the defects, and conditions associated with the primary defect. We also include information on patients’ ambulation and education level (where available).Methods Data from the Department of Patient Information University of Malaya Medical Centre (UMMC), Malaysia was captured from spina bifida patients (ICD10: Q05 spina bifida). Data involved patients referred to UMMC between 2003 and 2016 and/or born in UMMC within that particular time frame. We filtered and extracted the information according to the data of clinical examination, medical review, and social history provided in the medical records.ResultsA total of 86 patient records with spina bifida were analyzed. Spina bifida prevalence rate in this study ranged from 1.87 to 8.9 per 1,000 live births depending on weightage. We note that ethnicity was a factor whereby the highest numbers of spina bifida were from Malays (n = 36, 41.86%), followed by equal numbers of Chinese and Indians (n = 24, 27.91%). The highest number of diagnoses reported was myelomeningocele type-spina bifida (n = 39, 45.35%). The most common site of the spina bifida lesion was located at the lumbar region irrespective of aperta or occulta types (n = 23, 26.74%). Data on other associated phenotypes of spina bifida such as hydrocephalus and encephalocele was also captured at 37.21% (n = 32) and 1.16% (n = 1), respectively. In terms of mobility, 32.84% (n = 22/67) of patients between the ages 4 and 16 years old were found to be mobile. As many as 36.07% of patients ranging from 5 to 16 years of age (n = 22/61) received formal education ranging from preschool to secondary school.Conclusion The prevalence of spina bifida in UMMC is as according to international statistics which is in the range of 0.5–10 per 1,000 live births. Majority of the reported cases were males, Malays, full term babies, and of the myelomeningocele phenotype located at the lumbar region.
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November 2017 | Volume 5 | Article 2371
ORIGINAL RESEARCH
published: 09 November 2017
doi: 10.3389/fped.2017.00237
Frontiers in Pediatrics | www.frontiersin.org
Edited by:
Udo Rolle,
Universitätsklinikum Frankfurt,
Germany
Reviewed by:
Alexander Springer,
Medical University of Vienna, Austria
Burak Tander,
Ondokuz Mayıs University, Turkey
*Correspondence:
Noraishah M. Abdul-Aziz
noisha@ummc.edu.my
Specialty section:
This article was submitted to Child
Health and Human Development,
a section of the journal
Frontiers in Pediatrics
Received: 10August2017
Accepted: 19October2017
Published: 09November2017
Citation:
SahmatA, GunasekaranR,
Mohd-ZinSW, BalachandranL,
ThongM-K, EngkasanJP,
GanesanD, OmarZ, AziziAB,
Ahmad-AnnuarA and Abdul-AzizNM
(2017) The Prevalence and
Distribution
of Spina Bifida in a Single Major
Referral Center in Malaysia.
Front. Pediatr. 5:237.
doi: 10.3389/fped.2017.00237
The Prevalence and Distribution
of Spina Bifida in a Single Major
Referral Center in Malaysia
Adibah Sahmat1, Renuka Gunasekaran1, Siti W. Mohd-Zin1, Lohis Balachandran1,
Meow-Keong Thong 2, Julia P. Engkasan3, Dharmendra Ganesan 4, Zaliha Omar 3,5,
Abu Bakar Azizi6, Azlina Ahmad-Annuar 7 and Noraishah M. Abdul-Aziz1*
1 Faculty of Medicine, Department of Parasitology, University of Malaya, Kuala Lumpur, Malaysia, 2 Faculty of Medicine,
Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia, 3 Faculty of Medicine, Department of Rehabilitation
Medicine, University of Malaya, Kuala Lumpur, Malaysia, 4 Faculty of Medicine, Department of Surgery, University of Malaya,
Kuala Lumpur, Malaysia, 5 Rehabilitation Medicine Department, Sunway Medical Centre, Petaling Jaya, Malaysia,
6 Department of Surgery, National University of Malaysia, Kuala Lumpur, Malaysia, 7 Faculty of Medicine, Department of
Biomedical Science, University of Malaya, Kuala Lumpur, Malaysia
Background: The aim of this study is to review the medical history of patients with spina
bifida, encompassing both aperta and occulta types born between the years 2003 until
2016, spanning a 13-year time period. We assessed each patient and maternal parent
information, details of the defects, and conditions associated with the primary defect. We
also include information on patients’ ambulation and education level (where available).
Methods: Data from the Department of Patient Information University of Malaya Medical
Centre (UMMC), Malaysia was captured from spina bifida patients (ICD10: Q05 spina
bifida). Data involved patients referred to UMMC between 2003 and 2016 and/or born
in UMMC within that particular time frame. We filtered and extracted the information
according to the data of clinical examination, medical review, and social history provided
in the medical records.
Results: A total of 86 patient records with spina bifida were analyzed. Spina bifida
prevalence rate in this study ranged from 1.87 to 8.9 per 1,000 live births depending on
weightage. We note that ethnicity was a factor whereby the highest numbers of spina
bifida were from Malays (n=36, 41.86%), followed by equal numbers of Chinese and
Indians (n=24, 27.91%). The highest number of diagnoses reported was myelomenin-
gocele type-spina bifida (n=39, 45.35%). The most common site of the spina bifida
lesion was located at the lumbar region irrespective of aperta or occulta types (n=23,
26.74%). Data on other associated phenotypes of spina bifida such as hydrocephalus
and encephalocele was also captured at 37.21% (n=32) and 1.16% (n=1), respectively.
In terms of mobility, 32.84% (n=22/67) of patients between the ages 4 and 16years old
were found to be mobile. As many as 36.07% of patients ranging from 5 to 16years of
age (n=22/61) received formal education ranging from preschool to secondary school.
Conclusion: The prevalence of spina bifida in UMMC is as according to international
statistics which is in the range of 0.5–10 per 1,000 live births. Majority of the reported
cases were males, Malays, full term babies, and of the myelomeningocele phenotype
located at the lumbar region.
Keywords: spina bifida, University Malaya Medical Centre, prevalence, distribution, 13years study
ABCD
FIGURE 1 | Schematic representation of different spina bifida
subphenotypes. (A) Myelomeningocele is shown whereby the spinal cord lies
outside the spinal canal. This phenotype represents the severe form of spina
bifida aperta. (B) Meningocele is shown whereby the spinal cord does not lie
outside the spinal canal. This phenotype represents spina bifida occulta or
spina bifida aperta depending on the presence or absence of neural matter in
its herniated sac. (C) Lipomyelomeningocele that is the spina bifida occulta
type is shown with the presence of intermeshed lipid globules (in yellow) and
spinal cord. (D) Lipomeningocele that represents spina bifida occulta is
shown mimicking the meningocele but with the presence of lipid globules.
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Sahmat et al. Spina Bifida in Malaysia
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INTRODUCTION
Neural tube defects (NTDs) are the most common birth defect of
the central nervous system and they occur at a range of 0.5–10 or
more in 1,000 live births worldwide (1). NTD is a multifactorial
condition resulting from the failure of embryonic neural tube
closure. Clinical phenotypes of NTDs depend on the points of
embryonic neural tube closure (2), whereby craniorachischisis
results in the simultaneous exposure of the brain and the spinal
cord. Anencephaly is due to failure of closure at the midbrain
and/or forebrain, resulting in an exposed brain (1, 3). Both
craniorachischisis and anencephaly are incompatible with post-
natal life. Spina bida is due to failure of closure of the spinal
neural tube (1). Majority of spina bida are non-syndromic
NTDs (4). Syndromic spina bida that is NTD accompanied by
other associated disorders may include Jarcho–Levin syndrome
(5), X-linked heterotaxy (6), DiGeorge syndrome (7), as well as
Turner syndrome (8) as examples of the accompanying genetic
problems associated with syndromic spina bida that accounts
for less than 10% of NTDs (4, 9).
Of all the types of NTDs, spina bida is known to be the most
common type and spina bida patients have a higher chance of
survival (10). It is caused by the failure of the spinal neural tube
to close at approximately day 28 of human gestation (11). Spina
bida can appear in two forms; spina bida occulta and spina
bida aperta. Spina bida occulta is a closed form of spina bida
where the lesion is covered with skin and the spinal cord is not
exposed (4). Meanwhile, spina bida aperta occurs when the
spinal cord is exposed to its surrounding environment with or
without a herniating sac, and without skin covering (9, 11, 12).
e array of phenotypes of spina bida can be further divided
into a number of subtypes; myelomeningocele, meningocele,
lipomyelomeningocele, and lipomeningocele depending on the
pathophysiology of the lesion (Figure1).
e risk factors of spina bida in Malaysia have never been
explored considering that spina bida is a multifactorial condi-
tion (1316); therefore, environmental factors in Malaysia are a
relevant point in the etiology of spina bida and require further
understanding. Hence, basic patients’ and maternal parents’
information, including gender predisposition, ethnicity, birth
weight, maternal age, details of the defects, and associated condi-
tions, were included for a clearer scenario of the defect in our
cohort. Also, patients’ ambulation and education were scruti-
nized to improve the management and treatment depending on
the severity of defect in each patient. is study focuses on the
occurrence and follow-up of spina bida cases in a major hospital
in the capital of Malaysia, Kuala Lumpur from the year 2003 until
2016. is single institutional study is made signicant due to the
lack of publications on spina bida in Malaysia.
MATERIALS AND METHODS
Human Ethics Approval
Data were retrieved from the University of Malaya Medical Centre
(UMMC), Department of Patient Information aer approval from
the institutional UMMCEC Human Ethics committee (MEC Ref.
No. 914.5).
Data Collection
University of Malaya Medical Centre is part of University of Malaya
and it is a semi-government-funded medical institution situated in
Kuala Lumpur, Malaysia. It serves as a referral medical center for
the whole of Malaysia (17). Data for this retrospective study were
obtained from the UMMC Department of Patient Information.
Records obtained were from patients diagnosed with spina bida
according to ICD10: Q05 (Spina bida) in the period of 13years
(2003–2016). Data captured included (a) demographic details on
patients ethnicity, gender, year of birth, birth weight, birth term,
mother’s age, and mode of delivery (spontaneous vaginal delivery/
cesarean); (b) details of defects on diagnosis, open or closed lesion,
level of lesion, and syndromic or non-syndromic; (c) presence
of other conditions associated with spina bida such as hydro-
cephalus including any insertion of the ventriculo-peritoneal (VP)
shunt; and (d) patients’ ambulation and education.
Statistical Analysis
e data were analyzed using the Statistical Program for the Social
Sciences (SPSS, version 22.0, 2013, IBM corp). Contingency table
was used to display frequency distribution of the ethnicity and
genders based on the types of diagnosis and tested using Chi-
square. Dierences with p<0.05 were considered signicant
indicating a relationship between the variables. GraphPad Prism
5 was used to generate graphs.
RESULTS
Estimated Prevalence Rate of Spina Bifida
in Our Cohort
Eighty-six patient records were conrmed as spina bida accord-
ing to specic information retrieved from the records aer
unbiased ltering. From the 86 patients, the estimated number
of spina bida in-house and referred cases annually in UMMC
alone is 7. Using 139 as the total number of government hospitals
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Sahmat et al. Spina Bifida in Malaysia
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in Malaysia (18) and 520,000 as the annual average number of
live births based on the Department of Statistics Malaysia (19),
the estimated prevalence rate of spina bida in our study sample
numbers a high of 1.87 per 1,000 live births.
Calculation method 1:
Reported spina bifida case in UMMC per year
total no. of
×
government hospital
Malaysian average number of liv
ee births
×1
000
,
=×
()
×
7139
520 000
1
000
,
,
=187.per 1,000 live births.
Taking into account that UMMC is a referral center, there
exists the potential that UMMC will record higher numbers.
However, other issues, which potentially decrease the number
of occurrences, will include termination of pregnancies of spina
bida, miscarriage of spina bida and cases of spina bida, which
go unreported. It is not possible to distinguish spina bida cases
born and referred to UMMC. It is not known which among
the 86 live births occurred in UMMC and which were referred.
erefore, weighting adjustment was performed accordingly (20).
We obtained a total of 206 cases from the Department of
Patient Information, which was classied ICD10: Q05. However,
only 86 cases were conrmed as mentioned above and as a result,
as many as 120 cases listed as spina bida under the ICD10: Q05
were conrmed to be incomplete. erefore, a second calculation
was performed to take this into account. We obtained weighting
of 8.9 based on this calculation.
Calculation method 2:
Weighting adjustment =
% stratum of population
% stratum of sample
%
stratum of population =
206
100
018100 37 08××=
..%
%
stratum of sample =
86
206
100 41 75×=
.%
Weighting adjustment =
41 75 089
.% .
=
=
Demographic Data Analysis
e number of spina bida cases between 2003 until 2016 is as
shown in Figure2A. A total of 35% (n=30) patients were born
through spontaneous vaginal delivery while 42% (n=36) were
born by lower segment Cesarean section. e other 20 cases were
not accounted for in terms of mode of delivery. e maternal age
during childbirth ranged from 17 to 42years old and the most
aected age were below than 35years old (Figure2B). e birth
weight mostly occurred at 3.1 to 3.5kg and it ranged between
1.3 and 4.6kg (Figure2C). Data for birth term was retrieved
from 81% of cases, where 75% were full term babies and 6%
were premature babies. Pregnancy age less than 37weeks were
considered as premature while 37weeks and above as full term.
In our cohort, 59% were males and 41% females (Figure2D).
Majority of cases in the database were of Malay ethnicity (41.86%;
n=36), followed by an equal number of Chinese and Indians at
27.91% (n=24 each). ere was only a single case each of ethnic
minorities, a Kadazan and a Punjabi child, which registered at
1.16% (n=1 each) (Figure2E).
Types of Defects
e most commonly reported NTD type was spina bida with
myelomeningocele (45.35%, n=39) (Tab l e 1). ere was a single
case each of encephalocele with meningocele (1.16%) and 11
cases of lipomyelomeningocele (12.79%) (Table1). e most
commonly reported level of spina bida lesion was at the lumbar
region (26.7%, n=23) (Table2). Non-syndromic spina bida
represented the majority of the cases (91%). In this study, 37%
(n=32) of spina bida patients also had hydrocephalus, which
is considered an associated NTD, 40% (n=34) were noted to
be without hydrocephalus and there were no specic records for
23% of the cases. Surgery to insert VP shunts had to be performed
for 97% of patients with hydrocephalus.
Mobility and Education
Out of the 86 patients in our cohort, 22 over 67 (32.84%) of
patients between age 4 and 16years old were captured in terms of
mobility where they were able to ambulate independently using
aids without having to depend on others. e rest of the data were
not captured. We also discovered 22 out of 61 patients (36.07%)
range from 5 to 16years old have varying levels of education
ranging from playschool to secondary school. Two patients
(3.28%) age 7 and 14years old were not attending school. e
other 60.66% (n=37) patients were unaccounted for in terms
of education.
Analysis of Diagnosis
ere was no signicant relationship between the genders in
comparison to the types of diagnosis. However, there was an asso-
ciation between ethnicity and the types of diagnosis (p<0.05)
(Figure3).
DISCUSSION
is study aims to carefully navigate data obtained from patient
records by unbiased ltering, followed by extrapolation of data to
produce coherent and potentially revealing information which
can be used fruitfully for the betterment of the quality of life of
spina bida patients. Our study revealed the rate of prevalence of
spina bida in a major referral center in Kuala Lumpur, type of
spina bida, leading ethnic group, maternal age, method of deliv-
ery, birth weight, birth term, gender, incidence of hydrocephalus
and VP shunt insertion, types of defect, and the level of lesion,
including mobility and the level of education.
It is the nature of the retrospective study to extract data from
records and run analysis on the available data. However, data
retrieved were incomplete due to (a) information and clinical
examinations provided by physician in the records are based on
the urgency in attending treatments or procedure instead of diag-
nosis or cause of spina bida, (b) the 13years’ records of patients
TABLE 2 | Number and percentages of patients with spina bifida and level of
lesion.
Level of lesion Number of patients Percentage
Thoracic 3 3.49
Thoracolumbar 6 6.98
Lumbar 23 26.74
Lumbosacral 18 20.93
Sacral 16 18.60
Sacrococcygeal 1 1.16
Not available 19 22.09
Total 86 100
TABLE 1 | Number and percentage of patients with types of spina bifida
recorded.
Diagnosis Number of patients Percentage
Spina bifida only 12 13.95
Myelomeningocele 39 45.35
Meningocele 13 15.12
Encephalocele with meningocele 1 1.16
Lipomyelomeningocele 11 12.79
Lipomeningocele 10 11.63
Total 86 100
A B
ECD
FIGURE 2 | Demographics of spina bifida in the University of Malaya Medical Centre between the years 2003 until 2016. (A) Bar chart showing year of birth for
patient cohort. (B) Maternal age with highest peak at 31–35years old. (C) Birth weight with highest peak at 3.1–3.5kg. (D) Gender preponderance of spina bifida
patients. (E) Ethnicity of spina bifida patients.
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Sahmat et al. Spina Bifida in Malaysia
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referred to UMMC covers only the period of time the patients
were admitted at a later age and so, information regarding him or
her during birth is unknown, and (c) discrepancy of patients in
providing sucient information to their physician. Nevertheless,
the discussions will be based on the captured data from our
records and any discrepancy has been mentioned and accounted
for. Hence, we suggest a more standardized form of tabulating
information for patient records, including validation of imaging.
Also, online links should be made from the patientsrecords to
the medical imaging repository to ensure the information can be
veried.
A
B
FIGURE 3 | Analysis of diagnosis. (A) Comparison between ethnicity and type of diagnosis. (B) Comparison between genders and type of diagnosis.
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Sahmat et al. Spina Bifida in Malaysia
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Prevalence of Spina Bifida in UMMC As an
Indicator for Urban Malaysia
Data captured from 86 patients (Figure2A) revealed prevalence
rate of spina bida in the present study ranged from 1.87 to 8.9
per 1,000 live births that reveals a much higher prevalence rate
than that which was previously recorded. e result obtained was
unsurprisingly high owing the fact that the data were retrieved
from UMMC, which serve as a major referral hospital in Malaysia
(17). As far as detailed examination and treatment are concerned,
most spina bida patients will be regionalized to the referral
hospital where health care from specialists are provided with the
advancement of medical treatment and investigations (4, 21).
A prospective cohort study of neonates with spina bida using
the data from the Malaysian National Neonatal Registry has
shown a prevalence rate of 0.11 per live 1,000 births (22). Data
captured from that study include patients born in 2009 from 32
Malaysian hospitals. In another study of a small population in the
Kinta district, Malaysia reported an incidence of NTDs at 0.73 per
1,000 births but does not specify the NTD phenotype (23). e
EUROCAT (European Surveillance of Congenital Anomalies)
estimates the rate of spina bida in Europe at 0.51 per 1,000 live
births from year 2003 to 2007 (4, 24). e frequency is found to
be higher in the United States of America and United Kingdom
(9, 25, 26). Meanwhile, certain region in China such as Shanxi
Province has a much higher preponderance to this condition than
the other parts of the world (13, 27). Since the Boo etal.’s (22)
study, there have not been any other studies on spina bida in
Malaysia. erefore, our study aimed at garnering more current
data on the state of spina bida in Malaysia. Result from this study
revealed the prevalence rate of spina bida to be similar according
to that cited internationally which is 0.5–10 per 1,000 live births
for NTD cases (1).
Distribution of Spina Bifida
Our data conform to the global scenario of myelomeningocele,
reported as the most common and severe form of spina bida
(4) (Table1). Myelomeningocele is commonly associated with
hydrocephalus and encephalocele (4). us, surgical intervention
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Sahmat et al. Spina Bifida in Malaysia
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is required for myelomeningocele patients to cover the exposed
spinal cord in order to prevent infection and insertion of VP shunt
to treat hydrocephalus where necessary (28). Lesions occurred
mostly at the lumbar region (Ta b l e 2) as previously been reported
by e Spina Bida Research Resource” (29). ese data tally
with the United States of America.
In addition, syndromic spina bida was reported in 9% of the
total number of patients. e represented phenotypes include
autism and 48XY (intra-abdominal gonads). Unfortunately,
information about karyotype analysis is limited as they were
not provided in the medical records to conrm the diagnosis.
Data on antenatal ultrasound to detect spina bida was also not
available in the present study. Ultrasound examination during
prenatal check-ups is used in the early detection of spina bida
(30). However, it is not always accurate and sometimes failed to
diagnose the spina bida especially the occulta type (31).
Maternal Health Influence Spina Bifida
Neonates
Our records show that maternal age during childbirth mostly
aected at age below 35years old (Figure2B). is nding maybe
quite revealing in that the typical childbearing age in Malaysia is
between 20 and 35years old (32, 33), so it would make sense for the
highest number to be in that particular age range. Nevertheless,
the presented data suggests that healthy mothers at their ideal
childbearing age are also aected and this may be due to genetic
or environmental triggers (34). One caveat of this study is the lack
of information about folic acid intake by the mothers. Although
the Ministry of Health Malaysia recommends periconceptional
folic acid supplementation to all pregnant women to promote
healthy pregnancy (35), the intake of folic acid is not mandatory,
thus it may give rise to a higher risk of NTD.
Our data show that full term babies born with spina bida
were within the normal birth weight (Figure2C) as indicated
by the Pediatric and Pregnancy Nutritional Surveillance System,
Center for Disease Control and Prevention (CDC). ere have
been other studies that suggest low birth weights were greater
in NTD ospring without specifying the phenotype (15, 36).
According to the CDC, newborns should weigh more than 2.5kg
and less than 4kg (37).
As for gender, male patients hold more than half of the
overall percentage, which was 59% (Figure2D). e number
of males was also higher in majority of the spina bida sub-
phenotypes (Figure3B). e discrepancy might be related
to the geographical factor where males dominate the general
Malaysian population. In the year 2014–2016, Malaysia has
0.9 million more males compared to females (19). However,
this result contradicts studies from other countries stating that
females are more predisposed to NTDs compared to males
(38, 39). Recent reports from Bangladesh also record a higher
preponderance of spina bida among males (38, 40). e
United Kingdom population-based study found the number
of females is lesser than males in overall risk of congenital
anomalies. Regardless of the phenomenon, this pattern appears
to be reversed in NTD cases where females have a higher risk
of NTDs at birth (41).
From our ndings, Malay patients records the highest number
of spina bida cases (Figure2E) particularly in myelomenin-
gocele and spina bida only subtypes (Figure3A). In the previ-
ous records by the National Birth registry, NTDs were highest
among the Sarawak indigenous people and lowest among the
Chinese (22).
Education, Mobility, and the Issue
of Management of Spina Bifida in Malaysia
Our data show that a proportion of our spina bida patients
pursued education (36.07%, n=22/61 of patients ranging from
5 to 16years old). Most of them are capable of enrolling in the
national curriculum and participate in the process of learning.
Despite that, two patients were not attending school due to
unknown reason and more than half of the number of patients
were unaccounted for in terms education. Studies of Malaysian
school-aged children with physical disability, including spina
bida identied numerous restrictions to achieve education that
ranges from which diculties in managing urinary or bowel
incontinence, dependent mobility, inaccessible school facilities,
and societal or environmental barrier (42, 43). Mobility which
was achieved by 32.84% (n=22/67) of patients ranging from 4
to 16years old aided by wheelchairs, crutches, and ankle-foot
orthosis are important to retain patients’ mobility (44). ere
is correlation between mobility and the level of lesion. Higher
level of lesion leads to more mobility diculties, such as depend-
ant ambulation, imbalance, and use of mobility aids compared
to patients with lower level of lesion (42). Besides that, most
of spina bida patients are diagnosed with neurogenic bladder
dysfunction and they require a proper bladder management (45).
Although we lack data on the bladder management among our
patients, the use of clean intermittent catheterization is mainly
utilized in the prevention of kidney damage (46). It is noteworthy
that dierent spina bida patient needs dierent treatment and
management as it depends on the level of lesion and the type of
diagnosis. Front liners among the medical community for exam-
ple emergency room doctors and general practitioners as well
obstetrics and gynecologists should be continuously educated in
the management of spina bida as it is a common condition. en
only can patients and parents be trained as early as possible so
that the patients environment can be inclusive and that they are
able to eventually live independently (47).
Summary
Our data show that the prevalence of spina bida is higher
compared to previously published records. Based on our data,
we found that certain well-accepted norms such as myelomenin-
gocele, lesion at lumbar region, and higher occurrence of non-
syndromic spina bida compared to syndromic spina bida are
applicable to the Malaysian urban scenario. We urge a closer and
deeper understanding of the etiology of spina bida and suggest
that the UMMC cohort may be useful for the understanding of
spina bida. More studies involving the latest occurrence of spina
bida covering the entire Malaysia are necessary and paramount
to further understand this common central nervous system
malformation.
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Sahmat et al. Spina Bifida in Malaysia
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ETHICS STATEMENT
is study was carried out in accordance with the recom-
mendations of UMMC Medical Research Ethics Committee
(MREC) with written informed consent from all subjects. All
subjects gave written informed consent in accordance with
the Declaration of Helsinki. e protocol was approved by the
UMMC Medical Research Ethics Committee (MREC) (Ethics
no: MEC Ref. No. 914.5).
AUTHOR CONTRIBUTIONS
AS and SWM-Z conceived and designed the experiments,
performed the experiments, analyzed the data, wrote the
manuscript, and prepared gures and/or tables. RG analyzed
the data, performed statistical analysis, wrote the manuscript,
and prepared gures and/or tables. LB performed the experi-
ments, analyzed the data, wrote the manuscript, and prepared
gures and/or tables. TM-K conceived and designed the
experiments, contributed reagents/materials/analysis tools
reviewed dras of the manuscript. JE and ZO contributed
reagents/materials/analysis tools and reviewed dras of the
manuscript. DG and AA-B conceived and designed the experi-
ments and reviewed dras of the manuscript. AA-A conceived
and designed the experiments, analyzed the data, and reviewed
dras of the manuscript. NMA-A conceived and designed the
experiments, analyzed the data, contributed reagents/materi-
als/analysis tools, reviewed dras of the manuscript, and wrote
the manuscript.
FUNDING
Supported by High Impact Research Grant UM.C/625/1/HIR/062
(J-20011-73595) and UM.C/625/1/HIR/148/2 (J-20011-73843)
from University of Malaya to NMA-A, High Impact Research
Grant UM.C/625/1/HIR/MOHE/MED/08 (E-000032) from the
Ministry of Higher Education Malaysia to AA-A. and NMA-A,
postgraduate grant from University of Malaya PPP PG153-2015B
to SWM-Z, NMA-A, PG252-2015B to AS, NMA-A, PG137-
2015A to RG, NMA-A. e funders had no role in study design,
data collection and analysis, decision to publish, or preparation
of the manuscript.
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Conict of Interest Statement: e authors declare that the research was
conducted in the absence of any commercial or nancial relationships that could
be construed as a potential conict of interest.
Copyright © 2017 Sahmat, Gunasekaran, Mohd-Zin, Balachandran, ong,
Engkasan, Ganesan, Omar, Azizi, Ahmad-Annuar and Abdul-Aziz. is is an
open-access article distributed under the terms of the Creative Commons Attribution
License (CC BY). e use, distribution or reproduction in other forums is permitted,
provided the original author(s) or licensor are credited and that the original publica-
tion in this journal is cited, in accordance with accepted academic practice. No use,
distribution or reproduction is permitted which does not comply with these terms.
... In December of 2002, the Malaysian government sent one very highly opinionated individual with spina bifida to do her PhD on her medical condition at University College London (UCL) (Abdul-Aziz et al., 2009;Mohd-Zin et al., 2017;Pai et al., 2012). Truth be told, in retrospect, during the phone interview with Professor Andrew J. Copp, this particular Malaysian student was not aware that her would-be PhD supervisor at that time most likely may not have considered the extent of the severity of her disability (Pit-ten Cate et al., 2002;Sahmat et al., 2017) and the extent of having to deal with an individual with needs, different from other postgraduate students. UCL and England, being champions of equal opportunity (UCL Equality, Diversity, and Inclusion, 2017), the focus during the London-Kuala Lumpur phone interview was entirely on her laboratory experience (Master of Science Thesis at UKM: Pengklonan Gen Neuropeptida dan Analisis Filogeni, 2002). ...
... It is interesting to note that we do not even know how many Malaysians have NTDs. There are only two publications on this, and even then, we do not know how many Malaysians have spina bifida (Boo et al., 2013;Sahmat et al., 2017). We do not know how many Malaysians have had their open spinal cord addressed in a timely manner. ...
... Global numbers seem to fluctuate depending on which researcher's work is being cited. Having worked and interacted with researchers in the field in both the United Kingdom and the United States of America (Copp et al., 2013;Wallingford et al., 2013) and having spina bifida myself alongside actively working on spina bifida research, I find that it is becoming increasingly relevant for each nation to come up with their own number of those afflicted with neural tube defect and this fact came to light as many from developing nations seem to be citing Mohd-Zin et al., (2017) if not Sahmat et al., (2017). This highlights that Malaysian researchers, meaning my group, are paving the way forward to show the importance for local NTD researchers of each nation to become involved and invested, which includes: (Zoghi et al., (2021)-Iran, Việt (2021)-Vietnam, Royo-Salvador et al., (2020)-Spain, Rahmad et al., (2021)-Indonesia, and Ortiz-Cruz et al., (2021-Mexico). ...
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In December of 2002, the Malaysian government sent one very highly opinionated individual with spina bifida to do her PhD on her medical condition at University College London (UCL). Truth be told, in retrospect, during the phone interview with Professor Andrew J. Copp, this particular Malaysian student was not aware that her would-be PhD supervisor at that time most likely may not have considered the extent of the severity of her disability and the extent of having to deal with an individual with needs, different from other postgraduate students. UCL and England, being champions of equal opportunity, the focus during the London-Kuala Lumpur phone interview was entirely on her laboratory experience. The individual knew one thing and one thing alone, that she wanted to be regarded as capable purely on the basis of her academic abilities, and keenness on the topic and that she knew she had a huge plus on her side, that the Malaysian government would finance her studies (being of Bumiputera status by virtue of her mother's ethnicity) and having passed all the relevant exams and that all she needed to do was to make the case to procure a PhD studentship from a top global university.
... Among all of the congenital abnormalities mentioned, spina bifida is the most common type of NTDs with a higher chance of survival and compatible with postnatal life. 1,3 There are two forms of spina bifida, spina bifida occulta and spina bifida aperta. In the spina bifida occulta, the defect is still covered with skin, and the spinal cord is not exposed. ...
... The proportion of spina bifida as part of the syndrome is less than 10% of all NTDs. 3,4 Before the 1970s, the mortality rate for patients with spina bifida was almost 40%, but now it has decreased due to advances in health care and medical equipment support. The survival rate for spina bifida patients is now close to 75%. 10 The management of spina bifida is currently improving due to the aggressive measures in the neonatal period, preventive catheterization of bladder functions, home care, and neuroimaging technology that allows suitable radiological evaluation. ...
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Spina bifida is a birth defect that occurs due to the disruption of the formation of the neural tube with an incidence of 1–10 cases per 1000 live births. Spina bifida can appear as an occulta or aperta type, and the latter consists of meningocele, myelomeningocele, and myeloschisis. We reported a case of a term male newborn who was presented with lethargic, bradypnea, suction reflex abnormalities, and paralysis of lower extremities. A defect was found in the spine in the thoracolumbar region showed a placode with no meningeal and skin covering, suggestive of a myeloshisis. The patient was treated in the neonatal intensive care unit, was placed on non-invasive ventilation with successful weaning, parenteral nutrition, systemic antibiotics regimen, and wound care. The patient was consulted with a neurosurgeon and was subjected to an ultrasound examination of the head that led to hydrocephalus. After experienced clinical improvement and oral tolerance, the patient was allowed for discharged and scheduled for surgery. Keywords: spina bifida, neural tube defects, birth defect
... In Malaysia, there were several published studies with topics relevant to NTDs [10][11][12]. However, these studies did not highlight the maternal characteristics of women with NTD-affected pregnancies, as their study primarily focused on neonatal characteristics. ...
... The included patients for this study were not limited to livebirth deliveries, but also stillbirth and termination of pregnancy due to NTDs. Unlike the previous NTD-related research in Malaysia, such as the study by Boo et al. [10] and Sahmat et al. [12] which included only livebirth data. The inclusion of patients from the three domains allow the involvement of a wider obstetric population during patient identification. ...
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... Pada penelitian yang dilakukan oleh Sahmat dkk menunjukan bahwa secara umum faktor terjadinya spina bifida meliputi jenis kelamin, etnis, berat badan saat lahir, dan usia ibu saat melahirkan >20 tahun. 20 ...
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... The indirect lifetime cost in these patients is even higher due to great impact of their increased overall morbidity. The results from the economic evaluations demonstrate that folic acid fortification in food and pre-conception folic acid consumption are cost-effective ways to reduce the incidence of neural tube defects [5,6]. Considering all possible medical and economic consequences of the issue of diagnosis of spina bifida, there is an emerging need for clarification of exact etiology and pathophysiological mechanisms with emphasis on possible primary prevention, as well as early and effective treatment of spina bifida and also all upcoming complications. ...
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The spina bifida is a congenital anomaly that results in an abnormal formation of the spine and the spinal cord. The two dominant types of spinal dysraphism are based on appearance - open spina bifida if the lesion is visible and closed spina bifida if the lesion is not visible on the body surface. These conditions lead to a different spectrum of neurological effects according to the degree of neurulation disruption. The prevalence of neural tube defects has different rates among different ethnicity, geography, gender, and countries. Genetic, nutritional and environmental factors play a role in the etiology and pathogenesis of the spina bifida. Congenital anomalies in the vast majority concern children living in the early neonatal period who have important medical, social or educational needs. The lifetime cost of a child born with the spina bifida is estimated at over €500,000.
... As a result of these consecutive contributions, after many decades of indecision and difficulties, the tethered cord syndrome was finally described, as caused by an abnormal tethering of the spinal cord by a malformation that is evident on physical examination in the form of a spina bifida, while manifesting by a clinical picture of neurological sensorimotor impairments, predominantly in the lower limbs, associated with frequent deformities of the feet, cutaneous stigmata and genitourinary alterations, according to Fuchs, Lichtenstein and Yamada [3,4,8]. The prevalence of a symptomatic tethered cord associated with spina bifida occulta was 0.1% of 5499 primary school children in Turkey [9], while generally, all types of spina bifida occur in the range of 0.5-10 per 1000 live births worldwide [10]. The surgical treatment, indicated in 10-20% of cases, consists in the release of the spinal cord that is tethered by the myelo-meningovertebral malformation, via a lumbar laminectomy. ...
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Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition. We thus conclude that the need to study spina bifida in all its forms, both aperta and occulta, is more indicative of the spina bifida in surviving humans and that the measure of deterioration arising from caudal neural tube defects, more commonly known as spina bifida, must be determined by the level of the lesion both in mouse and in man.
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Various factors may contribute to adverse pregnancy outcomes; either maternal or foetal outcomes. This study aimed was to determine the association between advanced maternal age and adverse pregnancy outcomes. This is a cross sectional study. Data were collected from the birth records from January 1st 2012 until December 31st 2012 in Muar District. Descriptive and multiple logistic regression analyses were done and the results were presented as adjusted odds ratio (aOR) with p-value <0.05. The proportion of birth in Muar district, Johor was 14.8% among mothers aged 35 years and older and 85.2% among mothers aged 20 to 34 years. Advanced maternal age was associated with pregnancyinduced hypertension (aOR: 5.00; 95%CI: 1.95-12.65), gestational diabetes mellitus (aOR: 2.32; 95%CI: 1.35-4.00) and Caesarean section (aOR: 2.21; 95%CI: 1.53-3.19). Anaemia was negatively associated with advanced maternal age (aOR: 0.50; 95%CI: 0.32-0.78). No significant association was found between advanced maternal age and adverse foetal outcomes. In view of the findings, special attention should be paid to the antenatal mothers aged 35 years and older, even to those without any pre-existing medical problems.
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