CHAPTER I

PRELIMINARY

1.1 Triggers
A 7-month-old girl was brought to Puskesmas because she was still
unable to roll to her sides or to lift her head.
Her responses to light and sound were impaired. She was born at full
term with birth weight 3150 grams. Her weight now is 5100 grams, head
circumference is 39 cm, and body length is 55 cm. Her mother only gives her
breast milk and formula.
Recently, her mother noticed that her baby had white/opaque pupil in
her left eye. The babys brother was suffered from fever and rose-pink
maculopapular rash when their mother was at 8 weeks of gestational age.

1.2 Clarification and Definition

1. Maculopapular : freckles and reddish small bumps on the skin.
2. White pupil : The pupil which colored or give a white reflex is usually
contained on cataract.
3. Fever : An increase above normal body temperature.

1.3 Keyword
1. A 7-month-old girl
2. White pupil
3. Her weight is 5100 grams, head circumference is 39 cm, and body length
is 55 cm
4. Her responses to light and sound were impaired
5. Unable to roll to her sides or to lift her head
6. Rose-pink maculopapular rash when their mother was at 8 weeks of
gestational age
7. Birth weight 3150 grams
1.4 Problem Identification
Why that baby has impaired vision, hearing, and impaired of growth
and development?

1.5 Problem Analysis

8 week of gestational age

Rubella
Virus

Normal birth weight

A 7-month-old girl
The obstructed of growth
and development
Cataract
Congenital rubella
syndrome
1.6 Hypotheses
That baby has impaired vision, hearing, and impaired of growth and
development caused by the Rubella virus infection during 8 weeks of
pregnancy.
1.7 Learning Issue
1. Cataract
2. Development of infant when in pregnancy
3. Eye and ear
a. Eye (anatomy and organogenesis)
b. Ear (anatomy and organogenesis)
4. Milestone of children
a. Milestone
b. Compare development infant (the trigger) with the milestone
5. Hearing and vision screening
6. Infection agent in pregnancy
a. TORCH
b. Infection agent in the trigger
7. Congenital rubella syndrome
a. Definition
b. Etiology
c. Symptom
d. Pathogenesis
e. Correlation of congenital rubella syndrome with cataract
8. Determine the z scores
a. Weight for age
2

b. Length for age

c. Head circumference for age
d. Weight for length
e. How is infant growth (the trigger)
9. KPSP (Kuesioner Pra-Skrining Perkembangan)

CHAPTER II
DISCUSSION

2.1 Cataract and Deaf

2.1.1 Cataract
A cataract is clouding or opacity of the lens inside the eye. It is
useful to learn about how the eye works in order to understand what a
cataract is. Inside the eye, behind the coloured part (the iris) with a
black hole in the middle (the pupil), is the lens. In a normal eye, this
lens is clear. It helps focus light rays on to the back of the eye (the
retina), which sends messages to the brain allowing us to see. When
cataract develops, the lens becomes cloudy and prevents the light rays
from passing through.[1]

Figure 2.1.1[2]

2.2 Development of Infant When in Pregnancy

a. Development begins on the day of fertilization when one sperm
penetrates the ovum (egg) and unites with it to form one cell. This
combining of the ovum and the sperm causes massive cell division.[3]

Figure 2.2.1[3]

The fertilized ovum travels through the fallopian tube to the

uterus. About three to four days later the fertilized ovum, which by now
has divided many times, has reached the uterus. It begins to implant itself
into the soft lining of the uterus between the end of the first week and the
beginning of the second week after ovulation.[3]
b. 3 Weeks Gestational Age
A pregnant woman may notice her first missed menstrual period at
the end of the second week after conception, or about four weeks after the
first day of her last normal period. Proper nutrition is important even
before conception to provide the best possible environment for the
developing embryo. Habits such as smoking, alcohol consumption and
4

drug use should be stopped before conception, or as soon as possible after

conception to decrease the danger to the developing embryo and fetus.
Whenever possible, speak to your physician regarding preconception
counseling or contact the State Department of Health for more
information.[3]

c. 4 Weeks Gestational Age

Figure 2.2.2[3]
The human embryo, drawn here many times its actual size, is in fact about
1/100th of an inch long[3]
The heart begins to form.
Blood circulation begins.
Because of the developing body systems, it is important that the
mother gets proper nutrition and does not use alcohol, drugs or

tobacco.
Most pregnancy tests that are done in a clinic are positive by this time

d. 6 Weeks Gestational Age

The embryo is about 1/4 of an inch long. By this time the head and upper
body are well developed.[3]
The eyes have begun to form.
Structures that will become arms and legs, called limb buds, begin to

appear.
The heart, now in a tubular form, begins to beat.

The neural tube has formed which will give rise to the brain and spinal
cord.

Figure 2.2.3[3]

e. 8 Weeks Gestational Age

Figure 2.2.4[3]
The embryo is just over 1/2 inch long. The embryo now has a
fourchambered heart.[3]
The vertebral (spinal) column is developed and visible but is composed

of cartilage at this stage.

Electrical activity begins in the developing brain and nervous system
The fingers begin to develop.
Blood is being pumped through the umbilical cord to and from the

embryo.
The bluish amniotic sac surrounds the embryo. The fluid within it
protects the embryo.

f. 10 Weeks Gestational Age[3]

Figure 2.2.5[3]

During this period the embryo reaches a transition point. It is now

called a fetus, a Latin word meaning young one or offspring.

The head is about half the size of the fetus and the tail has disappeared.
The fetus now has a distinct human appearance.
Arms, legs, fingers and toes are distinctly visible.
The first real bone cells begin to replace the cartilage.
Eyelids are formed

g. 12 Weeks Gestational Age[3]

The eyelids fuse together.
Fingernails are developing.
Between 10 and 12 weeks, the fetus begins small, random movements

that are too slight to be felt by the mother.

The fetal heartbeat can be detected electronically.
All major body organs are formed although they are not able to
function outside of the uterus. The rest of the pregnancy is needed to
allow these organs to grow and mature

Figure 2.2.6[3]

h. 14 Weeks Gestational Age[3]

Figure 2.2.7[3]

The fetus is able to swallow and the kidneys are able to make urine.
Blood begins to form in the bone marrow.
The fetus now sleeps and awakens. It has movement of arms, legs,

head and neck. The mouth of the fetus is able to open and close.
The arms are in proportion to the body.
The fetus is about 3 1/2 inches long and weighs about 1 1/2 ounces

i. 16 Weeks Gestational Age[3]

By this age it is possible to distinguish the sex of the fetus.
The head is erect and the legs are developing.
Fine hair, called lanugo, has begun to grow on the head.
The fetus is about 5 to 6 inches long and weighs about 3 to 4 ounces.
j. 18 Weeks Gestational Age[3]
The body and facial features of the fetus are now recognizable.
The fetus is able to respond to sound.
The nose, lips and ears can be recognized at this stage.
Scalp hair is present.
A fetus at this age will be unable to survive if born prematurely

because it is much too small and the organs are too immature.
The fetus is about 6 inches long and weighs about 4 1/2 ounces

Figure 2.2.8[3]

Figure 2.2.9[3]
2.3 Eye and Ear
2.3.1 Eye
a.
Anatomy of eyes :

Figure 2.3.1.1[4]
b. Organogenesis

1) Optic Cup and Lens Vesicle

The developing eye appears in the 22-day embryo as a
pair of shallow grooves on the sides of the forebrain. With
closure of the neural tube, these grooves form outpocketings of
the forebrain, the optic vesicles. These vesicles subsequently
come in contact with the surface ectoderm and induce changes
in the ectoderm necessary for lens formation.[7]

Figure 2.3.1.2[3]
Shortly thereafter, the optic vesicle begins to invaginate
and forms the double-walled optic cup.[3]
The inner and outer layers of this cup are initially
separated by a lumen, the intraretinal space, but soon this
lumen disappears, and the two layers appose each other.
Invagination is not restricted to the central portion of the cup
but also involves a part of the inferior surface that forms the
choroid fissure. Formation of this fissure allows the hyaloid
artery to reach the inner chamber of the eye. During the seventh
week, the lips of the choroid fi ssure fuse, and the mouth of the
optic cup becomes a round opening, the future pupil. During
these events, cells of the surface ectoderm, initially in contact
with the optic vesicle, begin to elongate and form the lens
placode. This placode subsequently invaginates and develops
into the lens vesicle. During the fifth week, the lens vesicle
10

loses contact with the surface ectoderm and lies in the mouth of
the optic cup.[3]

Figure 2.3.1.3[3]

Figure 2.3.1.4[3]
2) Retina, Iris, and Ciliary Body
The outer layer of the optic cup, which is characterized
by small pigment granules, is known as the pigmented layer of
the retina. Development of the inner (neural) layer of the optic
cup is more complicated. The posterior four-fifths, the pars
optica retinae, contains cells bordering the intraretinal space
that differentiate into light-receptive elements, rods and cones.
Adjacent to this photoreceptive layer is the mantle layer, which,
as in the brain, gives rise to neurons and supporting cells,
including the outer nuclear layer, inner nuclear layer, and
ganglion cell layer. On the surface is a fibrous layer that
contains axons of nerve cells of the deeper layers. Nerve fibers
in this zone converge toward the optic stalk, which develops

11

into the optic nerve. Hence, light impulses pass through most
layers of the retina before they reach the rods and cones. The
anterior fifth of the inner layer, the pars ceca retinae, remains
one cell layer thick. It later divides into the pars iridica
retinae, which forms the inner layer of the iris, and the pars
ciliaris retinae, which participates in formation of the ciliary
body.[3]

Figure 2.3.2.15

Figure 2.3.1.5[3]

Meanwhile, the region between the optic cup and the

overlying surface epithelium is filled with loose mesenchyme.
The sphincter and dilator pupillae muscles form in this tissue.
These muscles develop from the underlying ectoderm of the
optic cup. In the adult, the iris is formed by the pigmentcontaining external layer, the unpigmented internal layer of the
optic cup, and a layer of richly vascularized connective tissue
12

that contains the pupillary muscles. The pars ciliaris retinae is

easily recognized by its marked folding. Externally, it is
covered by a layer of mesenchyme that forms the ciliary
muscle; on the inside, it is connected to the lens by a network
of elastic fi bers, the suspensory ligament or zonula.
Contraction of the ciliary muscle changes tension in the
ligament and controls curvature of the lens.[3]

Figure 2.3.1.6[3]

3) Lens
Shortly after formation of the lens vesicle, cells of the
posterior wall begin to elongate anteriorly and form long fibers
that gradually fill the lumen of the vesicle. By the end of the
seventh week, these primary lens fi bers reach the anterior
wall of the lens vesicle. Growth of the lens is not finished at
this stage, however, since new (secondary) lens fibers are
continuously added to the central core.[3]
4) Choroid, Sclera, and Cornea
At the end of the fifth week, the eye primordium is
completely surrounded by loose mesenchyme. This tissue soon
differentiates into an inner layer comparable with the piamater
of the brain and an outer layer comparable with the duramater.
The inner layer later forms a highly vascularized pigmented

13

layer known as the choroid; the outer layer develops into the
sclera and is continuous with the duramater around the optic
nerve. Differentiation of mesenchymal layers overlying the
anterior aspect of the eye is different. The anterior chamber
forms through vacuolization and splits the mesenchyme into an
inner layer in front of the lens and iris, the iridopupillary
membrane, and an outer layer continuous with the sclera, the
substantia propria of the cornea. The anterior chamber itself
is lined by flattened mesenchymal cells. Hence, the cornea is
formed by:[3]
a. an epithelial layer derived from the surface ectoderm,
b. the substantia propria or stroma, which is continuous
with the sclera, and
c. an epithelial layer, which borders the anterior chamber.
The iridopupillary membrane in front of the lens
disappears completely. The posterior chamber is the space
between the iris anteriorly and the lens and ciliary body
posteriorly. The anterior and posterior chambers communicate
with each other through the pupil and are filled with fluid
called the aqueous humor produced by the ciliary process of
the ciliary body. The clear aqueous humor circulates from the
posterior chamber into the anterior chamber providing nutrients
for the avascular cornea and lens. From the anterior chamber,
the fluid passes through the scleral venous sinus (canal of
Schlemm) at the iridocorneal angle where it is resorbed into the
bloodstream. Blockage of the flow of fluid at the canal of
Schlemm is one cause of glaucoma.[3]

5) Vitreous Body
Mesenchyme not only surrounds the eye primordium
from the outside but also invades the inside of the optic cup by
way of the choroid fissure. Here, it forms the hyaloid vessels,

14

which during intrauterine life supply the lens and form the
vascular layer on the inner surface of the retina. In addition, it
forms a delicate network of fibers between the lens and retina.
The interstitial spaces of this network later fill with a
transparent gelatinous substance, forming the vitreous body.
The hyaloid vessels in this region are obliterated and disappear
during fetal life, leaving behind the hyaloid canal.[3]
6) Optic Nerve
The optic cup is connected to the brain by the optic
stalk, which has a groove, the choroid fissure, on its ventral
surface. In this groove are the hyaloid vessels. The nerve fibers
of the retina returning to the brain lie among cells of the inner
wall of the stalk. During the seventh week, the choroid fissure
closes, and a narrow tunnel forms inside the optic stalk. As a
result of the continuously increasing number of nerve fibers,
the inner wall of the stalk grows, and the inside and outside
walls of the stalk fuse. Cells of the inner layer provide a
network of neuroglia that support the optic nerve fibers. The
optic stalk is thus transformed into the optic nerve. Its center
contains a portion of the hyaloid artery, later called the central
artery of the retina. On the outside, a continuation of the
choroid and sclera, the pia arachnoid and dura layer of the
nerve, respectively, surround the optic nerve.[3]

7) Molecular Regulation of Eye Development

PAX6 is the key regulatory gene for eye development. It
is a member of the PAX (paired box) family of transcription
factors and contains two DNA-binding motifs that include a
paired domain and a paired-type homeodomain.[3]
Initially, this transcription factor is expressed in a band
in the anterior neural ridge of the neural plate before

15

neurulation begins. At this stage, there is a single eye field that

later separates into two optic primordial. The signal for
separation of this fi eld is sonic hedgehog (SHH) expressed in
the prechordal plate. SHH expression upregulates PAX2 in the
center of the eye field and downregulates PAX6. Later, this
pattern is maintained so that PAX2 is expressed in the optic
stalks and PAX6 is expressed in the optic cup and overlying
surface ectoderm that forms the lens. As development proceeds,
it appears that PAX6 is not essential for optic cup formation.
Instead, this process is regulated by interactive signals between
the optic vesicle and surrounding mesenchyme and the
overlying surface ectoderm in the lens-forming region. Thus,
fibroblast growth factors (FGF) from the surface ectoderm
promote differentiation of the neural (inner layer) retina, while
transforming growth factor b(TGF-b), secreted by surrounding
mesenchyme, directs formation of the pigmented (outer) retinal
layer. Downstream from these gene products, the transcription
factors

MITF

and

CHX10

are

expressed

and

direct

differentiation of the pigmented and neural layer, respectively.

Thus, the lens ectoderm is essential for proper formation of the
optic cup, such that without a lens placode, no cup invagination
occurs.[3]
Differentiation of the lens depends on PAX6, although
the gene is not responsible for inductive activity by the optic
vesicle. Instead, PAX6 acts in the surface ectoderm to regulate
lens developmen. This expression upregulates the transcription
factor SOX2 and also maintains PAX6 expression in the
prospective lens ectoderm. In turn, the optic vesicle secretes
BMP-4, which also upregulates and maintains SOX2 expression
as well as expression of LMAF, another transcription factor.
Next, the expression of two homeobox genes, SIX3 and

16

PROX1, is regulated by PAX6. The combined expression of

PAX6, SOX2, and LMAF initiates expression of genes
responsible for lens crystallin formation, including PROX1.
SIX3 also acts as a regulator of crystallin production by
inhibiting the crystallin gene. Finally, PAX6, acting through
FOX3, regulates cell proliferation in the lens.[3]

Figure 2.3.1.7[3]

Figure 2.3.1.8[3]
BMP-4 is which also regulated and maintains SOX2
expression as well as expression of LMAF, another
transcription factor. Next, the expression of two homeobox
genes, SIX3 and PROX1, is regulated by PAX6. The combined

17

expression of PAX6, SOX2, and LMAF initiate expression of

genes responsible for lens crystallin formation, including
PROX1. SIX3 also acts as a regulator of crystallin production
by inhibiting the crystallin gene. Finally, PAX6, acting through
FOX3, regulates cell proliferation in the lens.[3]

Figure 2.3.1.9[3]
2.3.2

Ear
a. Anatomy

Figure 2.3.2.1[4]

18

Figure 2.3.2.2[4]
b. Organegenesis
In embryo , the ear develops from of three distinctly
different parts: (1) external ear (2) middle ear and (3) internal ear.[3]
1) Internal ear
In embryo of approximately 22 days, the first indication
of the developing ear is a thickening of the surface ectoderm on
each side of the rhombencephalon. The thickenings of surface
ectoderm called otic placodes, invaginate rapidly and form the
otic or auditory vesicles (otocysts).[3]

Figure 2.3.2.3[3]

19

Figure 2.3.2.4[3]
After forming of otic vesicles, each vesicle divides into:
[3]

a ventral component that gives rise to the saccule and cochlear

duct and
a dorsal component that forms the utricle, semicircular
canals, and endolymphatic duct.
Together, these epithelial structures form the membranous

labyrinth.

Figure 2.3.2.5[3]
a) Saccule, cochlea and organ of corti
In the sixth week of development, the saccule forms a
tubular out pocketing at its lower pole. This out
pocketing

called

cochlear

duct,

penetrates

the

surrounding mesenchyme in a spiral fashion until the

end of the eighth week, when it has completed 2.5
turns. Its connection with the remaining portion of the
saccule is then confined to a narrow pathway, the
ductus reuniens.[3]

20

Figure 2.3.2.6[3]
Then, Mesenchyme surrounding the cochlear duct soon
differentiates into cartilage. In the 10th week, this
cartilaginous shell undergoes vacuolization, and formed
two perilymphatic spaces, the scala vestibuli and scala
tympani.[3]
1 The cochlear duct and the scala vestibule separated
2

by the vestibular membrane.

The cochlear duct and the scala tympani separated
by the basilar membrane.
The lateral wall of the cochlear duct kept

attached to the surrounding cartilage by the spiral

ligament, while its median angle is connected to and
partly supported by a long cartilaginous process, the
modiolus, the future will become axis of the bony

cochlea.[3]
Initially, epithelial cells of the cochlear duct looked
alike. But in further development, they will form two
ridges: the inner ridge (the future spiral limbus) and
the outer ridge.[3]

Figure 2.3.2.7[3]

21

The outer ridge forms one row of inner and

three or four rows of outer hair cells, the sensory cells
of the auditory system. They are covered by a fibrillar
gelatinous substance attached to the spiral limbus that
rests with its tip on the hair cells called the tectorial
membrane. The sensory cells and tectorial membrane
together formed the organ of Corti. Impulses received
by this organ are transmitted to the spiral ganglion and
then to the nervous system by the auditory fibers of
cranial nerve VIII.[3]

Figure 2.3.2.8[3]

b) Utricle and Semicircular Canals

During the sixth week

of

development,

semicircular canals appear as flattened outpocketings of

the utricular part of the otic vesicle. Central portions of the
walls of these outpocketings eventually appose each other
and disappear, giving rise to three semicircular canals.
Whereas one end of each canal dilates to form the crus
ampullare, the other, the crus nonampullare, does not
widen. Because two of the latter type fuse, however, only

22

five crura enter the utricle, three with an ampulla and two
without. Cells in the ampullae form a crest, the crista
ampullaris, containing sensory cells for maintenance of
equilibrium. Similar sensory areas, the maculae acusticae,
develop in the walls of the utricle and saccule. Impulses
generated in sensory cells of the cristae and maculae as a
result of a change in position of the body are carried to the
brain by vestibular fi bers of cranial nerve VIII.[3]
During formation of the otic vesicle, a small group
of cells breaks away from its wall and forms the
statoacoustic ganglion. Other cells of this ganglion are
derived from the neural crest. The ganglion subsequently
splits into cochlear and vestibular portions, which supply
sensory cells of the organ of Corti and those of the saccule,
utricle, and semicircular canals, respectively.[3]

Figure 2.3.2.9[3]

2) Middle ear
a) Tympanic Cavity and Auditory Tube
The tympanic cavity, which originates in the
endoderm, is derived from the fi rst pharyngeal pouch. This
pouch expands in a lateral direction and comes in contact
with the floor of the first pharyngeal cleft. The distal part of
23

the pouch, the tubotympanic recess, widens and gives rise

to the primitive tympanic cavity, and the proximal part
remains narrow and forms the auditory tube (eustachian
tube), through which the tympanic cavity communicates
with the nasopharynx.[3]

Figure 2.3.2.10[3]

Figure 2.3.2.11[3]

b) Ossicles
The malleus and incus are derived from cartilage of
the fi rst pharyngeal arch, and the stapes is derived from
that of the second arch. Although the ossicles appear during
the fi rst half of fetal life, they remain embedded in
mesenchyme until the eighth month, when the surrounding
tissue dissolves.[3]
The endodermal epithelial lining of the primitive
tympanic cavity then extends along the wall of the newly
developing space. The tympanic cavity is now at least twice

24

as large as before. When the ossicles are entirely free of

surrounding mesenchyme, the endodermal epithelium
connects them in a mesentery-like fashion to the wall of the
cavity. The supporting ligaments of the ossicles develop
later within these mesenteries.[3]
Because the malleus is derived from the fi rst
pharyngeal arch, its muscle, the tensor tympani, is
innervated by the mandibular branch of the trigeminal
nerve. The stapedius muscle, which is attached to the
stapes, is innervated by the facial nerve, the nerve to the
second pharyngeal arch.[3]
During late fetal life, the tympanic cavity expands
dorsally by vacuolization of surrounding tissue to form the
tympanic antrum. After birth, the epithelium of the
tympanic cavity invades the bone of the developing
mastoid process, and epithelium-lined air sacs are formed
(pneumatization). Later, most of the mastoid air sacs come
in contact with the antrum and tympanic cavity. Expansion
of infl ammations of the middle ear into the antrum and
mastoid air cells is a common complication of middle ear
infections.[3]

Figure 2.3.2.12[3]
3) External ear
a) External Auditory Meatus
The external auditory meatus develops from the
dorsal portion of the first pharyngeal cleft. At the beginning
of the third month, epithelial cells at the bottom of the
meatus proliferate, forming a solid epithelial plate, the

25

meatal plug. In the seventh month, this plug dissolves, and

the epithelial lining of the floor of the meatus participates in
formation of the definitive eardrum. Occasionally, the
meatal plug persists until birth, resulting in congenital
deafness.[3]
b) Eardrum or Tympanic Membrane
The eardrum is made up of:[3]
a. an ectodermal epithelial lining at the bottom of the
auditory meatus,
b. an endodermal epithelial lining of the tympanic cavity,
and
c. an intermediate layer of connective tissue that forms the
fibrous stratum.
The major part of the eardrum is fi rmly attached to
the handle of the malleus, and the remaining portion forms
the separation between the external auditory meatus and the
tympanic cavity.[3]
c) Auricle
The auricle develops from six mesenchymal
proliferations at the dorsal ends of the first and second
pharyngeal arches, surrounding the fi rst pharyngeal cleft.
These swellings (auricular hillocks), three on each side of
the external meatus, later fuse and form the defi native
auricle. As fusion of the auricular hillocks is complicated,
developmental abnormalities of the auricle are common.
Initially, the external ears are in the lower neck region, but
with development of the mandible, they ascend to the side
of the head at the level of the eyes.[3]

26

Figure 2.3.2.13[3]
2.4 Milestone of Children

2.4.1 Milestone

Figure 2.4[5]
The use of milestones to assess development focuses on
discrete behaviors that the clinician can observe or accept as present by
parental report. This approach is based on comparing the patients
behavior with that of many normal children whose behaviors evolve in
a uniform sequence within specific age ranges.The development of the
neuromuscular system, similar to that of other organ systems, is
determined first by genetic endowment and then molded by
environmental influences. Although a sequence of specific, easily
measured behaviors can adequately represent some areas of
development (gross motor, fine motor, and language), other areas,
particularly social and emotional development, are not as easy to
27

assess. Easily measured developmental milestones are well established

through age 6 years only. Other types of assessment (e.g., intelligence
tests, school performance, and personality profiles) that expand the
developmental milestone approach are available for older children but
generally require time and expertise in administration Developmental
and behavioral problems are more common than any category of
problems in pediatrics, except acute infections and trauma. In 2008
15% of children ages 3 to 7 had a developmental disability, and others
had behavioral disabilities. As many as 25% of children have serious
psychosocial problems. Parents often neglect to mention these
problems because they think the physician is uninterested or cannot
help. It is necessary to monitor development and screen for the
presence of these problems at health supervision visits, particularly in
the years before preschool or early childhoodlearning center
enrollment.[5]
Development surveillance, done at every office visit, is an
informal process comparing skill levels to lists of milestones. If
suspicion of developmental or behavioral issues recurs, further
evaluation is warranted (Table 8-1). Surveillance does not have a
standard, and screening tests are necessary. Developmental screening
involves the use of standardized screening tests to identify children
who require further diagnostic assessment. The American Academy of
Pediatrics recommends the use of validated standardized screening
tools at three of the health maintenance visits: 9 months, 18 months,
and 30 months. Clinics and offices that serve a higher risk patient
population (children living in poverty) often perform a screening test at
every health maintenance visit. A child who fails to pass a
developmental screening test requires more comprehensive evaluation
but does not necessarily have a delay; definitive testing must confirm.
[5]

Developmental evaluations for children with suspected delays

and intervention services for children with diagnosed disabilities are
28

available free to families. Screening tests can be categorized as general

screening tests that cover all behavioral domains or as targeted screens
that focus on one area of development. Some may be administered in
the office by professionals, and others may be completed at home (or
in a waiting room) by parents. Good developmental/ behavioral
screening instruments have a sensitivity of 70% to 80% in detecting
suspected problems and a specificity of 70% to 80% in detecting
normal development. Although 30% of children screened may be overreferred for definitive developmental testing, this group also includes
children whose skills are below average and who may benefit from
testing that may help address relative developmental deficits. The 20%
to 30% of children who have disabilities that are not detected by the
single administration of a screening instrument are likely to be
identified on repeat screening at subsequent health maintenance visits
and interpretation.[5]
2.4.2

Compare Development Infant (the Trigger) with The Milestone

In 7 months-age, the infant normally has to able to do the
activity that the infants <7 months-age can do. In the milestone, when
6 months-age, the infant can sit alone, lift up on hands, roll front to
back, lift shoulder, and move head to the sides (gross motor). [5] But the
infant in the trigger, who is 7 months-age cannot do some of activity
(gross motor), like roll front to back and lift her head. If the infants
cannot lift her head, so we can conclude that she cannot sit alone.
Because when we try to sit alone, we have to move our head and neck.
So we can say that the infant has a delayed of development.
Actually to make a fixed conclusion, we have to do the KPSP.
But because the information from the triggers is not enough, so its
difficult to do the KPSP.

2.5 Hearing and Vision screening

2.5.1 Hearing Screening
Hearing screening is really important for the children,
especially for the infants. As quick as we realize the lack of hearing of
29

the children, the result of treatment can be more maximal. Hearing

impairment in children across the world constitutes a particularly
serious obstacle to their optimal development and education, including
language acquisition. Deaf and hearing-impaired children often
experience delayed development of speech, language and cognitive
skills, which may result in slow learning and difficulty progressing in
school.[6]
There is widespread agreement that the best approach is
universal physiological screening using otoacoustic emissions (OAE)
testing or auditory brainstem response (ABR). However, where such
programmes are not possible because of financial considerations or
because appropriate equipment and personnel are unavailable (or
because of a need to start in a more limited way and work towards
universal physiological screening) other approaches can be valuable
interim measures.[6]
Table 2.5.1.1[6]
Guiding principles for action Screening methods Depending on
the circumstances and based on evidence from well-conducted pilot
studies different methods can be used to decide which neonates and
infants should be referred for a complete diagnostic audiological
evaluation. Although physiological screening is the most accurate, it
may not be feasible in all circumstances.[6]
Family questionnaires : parents or other caregivers may be asked
about the response of their neonate or infant to sounds and their use
of language, including early indicators of language such as
babbling and other vocalizations. Babies performing poorly on
such measures can then be referred for more-comprehensive
audiological assessment. Ideally, such questionnaires should be

validated before widespread application.[6]

Behavioural measures : the responses of babies to behavioural
measuring devices (ranging from simple noisemakers to more

30

sophisticated audiological equipment and procedures) can also be

used to identify hearing loss. However, such methods produce high
levels of both false negatives and false positives with babies less

than 12 months old.[6]

Physiological measures : measures of OAE or ABR have been
shown to be effective methods of screening for hearing loss in
neonates and infants. OAE measures are obtained from the ear
canal by using a sensitive microphone within a probe assembly that
records cochlear responses to acoustic stimuli. OAEs measure the
status of the peripheral auditory system extending to the cochlear
outer hair cells. ABR measurements are obtained from surface
electrodes that record neural activity generated in the auditory
nerve and brainstem in response to acoustic stimuli delivered via
an earphone. Screening ABR measurements are usually automated
(AABR) and reflect the status of the peripheral auditory system,

the eighth nerve, and the brainstem auditory pathway.[6]

Neonates or infants to be screened
In order to identify all neonates and infants with permanent
hearing loss in a particular area, all babies in that area need to be
screened. Where this is not feasible, especially in the early stages of
implementation, some programmes may instead focus on a subset of
babies in that area.[6]
Geographical subset

when

newborn

hearing

screening

programmes are starting up, it is not unusual for them to focus first
on babies in a particular geographical region because of issues of
accessibility and the availability of equipment and personnel.
Alternatively, some programmes use this approach to pilot-test
their procedures and the benefits associated with hearing screening

activities.[6]
SCBU/NICU babies : because the incidence of permanent hearing
loss is 1020 times higher among neonates who require intensive
medical care during the first few days of life, hearing screening

31

programmes that are unable to screen all babies often focus on

those admitted to a SCBU/NICU.[6]

Babies with risk factors : many studies have shown that babies who
exhibit recognized hearing-loss risk factors have a much higher
rate of hearing loss than those who do not. Such factors include
(but are not limited to) a family history of permanent childhood
hearing loss; infections such as cytomegalovirus, herpes, rubella,
syphilis, or toxoplasmosis; cranial-facial anomalies; syndromes
associated with hearing loss; adverse perinatal conditions such as
birth asphyxia, low birth weight and hyperbilirubinaemia; and
neurodegenerative disorders such as Friedreich-Ataxia. This
approach is similar to screening only babies in the SCBU/NICU
however, a significant number of babies with risk factors (such as
those who have a family history of permanent childhood hearing
loss) will not be in a SCBU/NICU. Conversely, approximately half
of babies with congenital hearing loss will not exhibit any risk
factors. The risk factors that are most predictive of hearing loss in
babies will vary from country to country. It is therefore important
that the risk factors used are good predictors of hearing loss in that

particular geographical area.[6]

Universal hearing screening : to identify all neonates and infants
with permanent hearing loss it is necessary to screen all babies in
the targeted area. Universal hearing screening using physiological
measures (either OAE or AABR) should therefore be the goal
wherever feasible.[6]
Additionally, although it is best to identify permanent hearing

loss as early as possible (preferably within the first month of life) it is

still valuable to identify it in infants who are a few months older. This
will be very relevant in settings where the only places where screening
can be feasibly performed are not available until babies are 612
months of age.[6]

32

Programmes should ideally aim to screen all neonates in a

given area before 1 month of age. A diagnostic audiological evaluation
should be completed for those who do not pass the screening as soon
as possible and by no later than 3 months of age. Audiological, medical
and educational services should then be provided to infants diagnosed
with hearing loss as soon as possible and by no later than 6 months of
age. There is increasing evidence that infants and young children with
permanent hearing loss have better outcomes the sooner they begin
early-intervention programmes.[6]
So this is the procedure for initial screening (also known as the
sweep test). This is based on the American Speech-Language-Hearing
Association screening guidelines (ASHA). The technique relies on a
conditioned response to sound. The screen is difficult for children
under three years of age or children with developmental or behavioural
problems (these children should be referred for audiological
assessment). The success of the screening test depends on achieving a
conditioned response.[7]
Preparing the child for Initial screening audiometry (conditioning)
Bring the child close to the audiometer (child must be no more
than 30 cm from the headphones) and explain that you will be playing
a simple game. Tell the child that you will be making some sounds or
beeps with the machine.[7]
a
Leave the headphones on the desk with headphones facing toward
b
c

child.
Demonstrate with a 1000 Hz tone at 100 dB.
Explain to the child that, to play the game, each time they hear a
beep they must drop a pebble into the container.
Repeat presentation of tone 1000 Hz, at 100 dB and drop another
pebble into the container at the sound of the tone. Repeat this a few
times, and vary the presentation time between each beep so that the

child understands that they must wait for the sound.

The child should then be able to demonstrate that they are able to
drop a pebble at the sound of the tone. The child must repeat this a
few times to show they thoroughly understand the task.
33

If the child is unable to sit still and participate, then they are not
ready to be screened and will need to be put on a rescreen
schedule. If the VHT has concerns about their hearing, they should
be referred to an audiologist for an audiometric assessment, using
techniques that are more appropriate for the childs developmental

age.
When the child is fully conditioned and ready to begin the test,
follow the procedure set out below.

Procedure for Initial screening audiometry

Figure 2.5.1.2[7]

Figure 2.5.1.3[7]

34

2.5.2

Vision Screening
The screening is conducted exactly 4 m from the child and at
the same level as the childs eyes. Measure 4 m from the child with the
tape measure, and mark the floor at both ends with a piece of masking
tape.[7]
Ensure that the chart (book) and the key card:[7]
match (ie, both have confusion bars)
have a matte finish so that the child cannot see reflections
do not have marks such as fingerprints or pen ink.
Also make sure the child is not facing a window or other bright
light source that could make the chart difficult for them to see.
Remember that although the screen is done at 4 m, the results (eg, 6/6
or 6/12) are written as though the test was undertaken at 6 m. (Do not
record the results as 4/4 etc.)[7]
Preparing the child for Parr letter-matching or Sheridan Gardner
charts[7]
1. Ask the child to sit so that the masking tape on the mat/floor and
their eyes are level (approximately 60 cm distance).
2. Explain to the child that you will be playing a simple game.
3. Show the child a large letter (shape) from your book and point to
the letter that is the same on their card.
4. Show the child another large letter and explain that they have to
find the same shape. Assist the child if needed.
5. Change the letter and ask the child to find the same shape.
6. When you feel the child understands the task, show the child the
eye patch and suggest they need to be a pirate to play the game.
Procedure for Parr letter-matching or Sheridan Gardner charts[7]
1. Place the eye patch over the childs left eye.
2. Move to the 4 m point. Ensure no other children are sitting
between you and the child being screened.
3. Beginning with the largest letter, show the child progressively
smaller letters from each level. Encourage the child as much as
possible. Continue until the child has difficulty identifying the
letters.

35

4. Record the smallest letter size at which the child correctly matches
two out of three letter shapes at any level. Use the conversion table
on the back cover of the book (ie, 6/30, 6/18, 6/12, 6/9, 6/6).
5. Place the eye patch over the childs right eye.
6. Move to the 4 m point.
7. Beginning with the largest letter, show the child progressively
smaller letters from each level. Show the letters in a different order
from that which you showed the child in step 3. Encourage the
child as much as possible. Continue until the child has difficulty
identifying the letters.
8. Record the smallest letter size at which the child correctly matches
two out of three letter shapes at any level. Use the conversion table
on the back cover of the book. Note: Record 6/6, 6/6 when you
show all three 6/6 letters and the child can achieve two.
9. Parr letter-matching vision test (with confusion bars) is the
recommended screening test for all children younger than seven
years old. If the child has difficulty understanding the test, consider
using the Parr letter-matching vision test without confusion bars.
2.6 Kind of Maternal Infections that Can be Transmitted to Fetus
2.6.1 TORCH
a

Toxoplasmosis Infection
Toxoplasmosis is usually a benign anthropozoonosis, caused by
Toxoplasma gondii (T. gondii), an obligate intracellular protozoan.
Mode of infection in T. gondii is transmitted through the fecal
matter of cat, eating raw meat, contaminated water and soil, and
unpasteurized goat milk. The parasites cross the placenta and infect
infants. Congenital toxoplasmosis is usually not apparent at birth
and about 70-90% of infants develop the serious clinical illness in
adulthood.1 Although, three different types of strain have been
found in different species such as type I, type II, and type III, but in
human, type I and type II are found in active form whereas type III
is found in animals.[8]

36

Symptoms in toxoplasmosis infection is only 10-15% infant

shows clear symptoms such as skull and encephalic anomalies,
neurological

afflictions,

intracranial

calcifications

and

eye

anomalies. Moreover, only 5% infants have severe complications

like

thrombocytopenia,

maculopapular

rash,

anemia,
CNS

jaundice,

sequelae.

The

hepatomegalia,
classic

triad

hydrocephalus, chorioretinitis, and intracranial calcifications

reported very rare. Fetuses infected in the third trimester are often
asymptomatic at birth.[8]
Diagnosis of toxoplasmosis infection is when a woman has
infected with a pathogen during pregnancy, the normal immune
response results in the production of IgM (Immunoglobulin M)
antibodies followed by IgG antibodies. IgM antibodies against
TORCH organisms usually persist for about 3 months, while IgG
antibodies remain detectable for a lifetime, providing immunity
and preventing or reducing the severity of reinfection. Thus, if IgM
antibodies are present in a pregnant woman, a current or recent
infection with the organism is predicted. The causative organism
can be isolated from placenta, serum, and cerebrospinal fluid.2
Diagnostic testing for the causative organism in the fetus, whose
mother has evidence of acute infection, can be performed more
precisely as early as within 18 weeks of gestation using polymerase
chain reaction (PCR) amplification of the B1 gene of T. gondii.
Specific diagnostic tests like differential scanning calorimetric
(DSC), IgM enzyme linked immunosorbent assay (ELISA), IgM
immunosorbent agglutination assay (ISAGA), and anti P30 IgM
were

also

performed

to

detect

the

causative

organism.

Calcifications can be detected by the computed tomography

scanning (CT scan) of the head. Elevation of protein level and
pleocytosis can be seen in the cerebro-spinal fluid during

37

toxoplasmosis. Rising level of IgG and IgM antibodies in cord or

neonatal sera also indicates the toxoplasmosis infection.[8]
Treatment in toxoplasmosis infection is after early detection,
the mother can be treated with spiramycin (1500 mg every 12
hours) to prevent fetal infection. If the fetus is found to be infected,
the treatment is changed to combination of pyrimethamine and
sulfadiazine. This combination drugs may be recommended along
with supplements of folinic acid to prevent the bone marrow
suppression caused by pyrimethamine and sulfadiazine.[8]
b

Others Infections

Syphilis Infections
It is caused by gram negative spirochete Treponema
pallidum (T. pallidum). It has 100% vertical transmission
ratings. Mode of infection: It is spread through direct contact
with

spirochete

containing

lesion,

sexually,

or

transplacentally.2 Syphilis affects pregnant women in three

stages: (a) Primary stage appearance of the syphilitic chancre
and lymphadenitis. (b) Secondary stage- rash on the hands and
feet even after 2-10 weeks of chancre heals. (c) Tertiary stageneurological,

cardiovascular,

and

gummatous

lesions

(granuloma of the skin and musculoskeletal system).

Congenital syphilis transmitted from mother to her children,
those have primary and secondary stages of the disease rather
than tertiary stage. Congenital syphilis can be divided into two
phases: early disease (before two years) and late disease (after
two years).[8]
Symptoms of syphilis are early manifestation could be
hemorrhagic nasal discharge (sniffles), hepatosplenomegaly,
jaundice,

increased

liver

enzymes,

lymphadenopathy,

hemolytic anemia, thrombocytopenia, osteochondritis and

38

periostitis,

mucocutanous

rash, central

nervous

system

abnormalities, failure to thrive, chorioretinitis, nephritis and

nephrotic

syndrome,

parrots

pseudoparalysis.

Late

manifestations have signed such as Hutchinson teeth (small

teeth with an abnormal central groove), mulberry molars
(bulbous protrusions on the molar teeth resembling mulberries),
hard palate perforation, eighth nerve deafness, interstitial
keratitis, bony lesion, and saber shins (due to chronic
periosteitis) [8]

Varicella-zoster virus Infection

It is a member of the herpes virus family. This virus
transmitted through direct physical contact, airborne contact
with droplets of respiratory secretions. A newly infected person
is contagious from 1 to 2 days before the onset of rash. The
average incubation period for varicella is 14 to 16 days (range
1021 days). After the primary infection resolves, the virus
enters the latent phase and remains dormant in the thoracic
sensory ganglia. Reactivation may occur along the sensory
dermatome to cause herpes zoster, or shingles. Symptoms of
this infection are Herpes zoster during pregnancy has been
observed very rarely (one cases in 200000 pregnancies). Only
2% of fetuses whose mother have infected with this virus in
first 20 weeks of pregnancy will develop varicella zoster virus
embryopathy. Various maternal symptoms such as chiken pox
or shingles rash, haemorrhagic chickenpox, viral pneumonia,
meningitis, encephalitis and various fetal symptom such as
limb

hypoplasia,

microphthalmia,

paresis,
duodenal

microcephaly,
stenosis,

hydrocephalus,

jejuna

dilatation,

microcolon, atresia of the sigmoid colon, cicatricial lesions of

skin or hypoplasia of tissues in a dermatomal distribution,
cataracts, chorioretinitis, seizures, hypotonia, hypo-reflexia,
39

encephalomyelitis,
nystagmus,

dorsal

anisocoria,

radiculitis,

corneal

bulbar

opacities,

dysphagia,

enophthalmia,

hypoplasia of the optic discs, optic atrophy, squint, gastroesophageal reflux, anal sphincter malfunction, neurogenic
bladder, and micrognathia have been observed during infection.
Treatment In case of severe maternal infection, antiviral agent
acyclovir can be used for treatment. Varicella zoster virus
immunoglobulins (VZIG 125 IU) used in combination therapy
with acyclovir for the fetal infection.[8]

Hepatitis B Infection
It is a DNA containing virus belonging to hepadnavirus
family. Most infants are infected through contaminated blood
or body fluids during delivery. Intracellular HBV is not
cytopathic. It replicates in hepatocytes and interferes with
hepatic functions. In order to counter attack the virus, the
cytotoxic T cell is activated to fight against the HBV proteinproducing cells. This results in inflammatory reaction and
cellular damage. Symptoms: Morbidity due to HBV is
inversely proportional to the gestational age. If the gestational
period at the time of acute infection increases, risk of chronic
infection decreases. Chronic infection with HBV may lead to
hepatocellular carcinoma or cirrhosis.[8]

Parvovirus B19 Infection

It contains single stranded DNA as genetic material. It
causes Erythema infectiosum (slapped cheek disease) in
childhood.

Infection

is

transmitted

through

air

and

contaminated blood. Infection of a negative mother occurs due

to contact with children having Erythema infectiosum
infection. Symptoms of this infection are maternal infection
can lead to miscarriage and nonimmune hydrops fetalis
development. Massive edema, pleural and pericardial effusions
40

and peritoneal spaces characterize hydrops fetalis. In the fetus,

virus interrupts the production of RBC thus leads to anemia,
which causes cardiac arrest.[8]
c

Rubella Infection
Rubella or German measles is a member of Togaviridae
family. They are present with envelope and Icosahedral capsid,
and have RNA as genetic material. It is transmitted through
direct contact or airborne droplets from the respiratory system.
Its incubation period is about 2-3 weeks and is contagious.
Rubella virus enters into mothers body, spreads through blood,
placenta, and infects the fetus. Occurrence of infection in
various stages of pregnancy is follows:[8]
-

90% in first 11 weeks of pregnancy

50% in 11-20 weeks of pregnancy

37% in 20-35 weeks of pregnancy

100% in last month of pregnancy

Symptoms of this infection are during infection, mother

feels various symptoms such as fever, malaise, urinary tract

infection (URTI), lymphadenopathy (sub occipital), and
conjunctivitis. Forchheimers spots, maculopapular rash (rarely
purpuric), Rubelliform rash (1-3 mm in diameter), arthralgia,
arthritis,

encephalitis,

thrombocytopenia,

haemorrhagic

manifestations, neuritis, orchitis etc. Infant shows symptoms

such as microcephaly, micrognathy, cleft lip or palate,
encephalocele, anencephaly, hepatic calcifications, branch
pulmonary artery stenosis, patent ductus arteriosus, ventricular
septal defects, coarctation of the aorta, ocular cataracts,
microphthalmia,

glaucoma,

pigmentary

retinopathy,

microphthalmos, hearing defects, purpuric skin lesions

(blueberry muffin skin), anaemia, hepatitis.[8]

41

The diagnosis of infection can be carried out using a virus,

isolated from nasopharyngeal secretion and detect the presence
of specific IgM using HAI, Nt test. The IgM level can be
estimated on the 23rd week of pregnancy. Some techniques
such as the RNA probe and PCR are also used to detect the
virus in amniotic fluid or chorionic villi.[8]
d

Cytomegalovirus Infection
CMV is the member of herpes virus family. It is transmitted to
an infant during pregnancy, ingestion of infected human milk,
direct contact with urine and saliva. It is easily spread in day care
centers and family having many young children. Due to
endogenous reactivation of virus, it can cause severe illness in the
transplant recipient immunosuppressed patients.[8]
Symptoms of this infection are about 90% of primary infection
are asymptomatic in mother and showed complications like fever,
fatigue, myalgia, hepatitis, lymphadenopathy. Infants showed
various complications such as optic atropy, microcephaly,
hypotonia, intracranial calcifications, and decrease hearing,
pneumopathy, thrombocytopenic purpura. If the mother has a
primary infection during pregnancy, fetal morbidity rate is high.
The diagnosis of this infection can be looked at the Body fluids
such as urine and pharyngeal secretions in the first three weeks
after birth are very important for the detection of this virus. After 3
weeks of birth, it will be very difficult to differentiate between
congenital and postnatal infection. PCR technique is very
frequently used for detection of this virus. Patients with congenital
CMV infection are more likely to experience postnatal seizures.
The reported frequency of postnatal seizure ranged from 10 to 56%
in children with symptomatic congenital CMV infection whereas
the rate was 0.9% in patients with asymptomatic congenital CMV
infection. However, various antiviral drugs are commonly used for

42

treatment of non-specific infection, intravenous ganciclovir are

used to treat congenital infection. New oral antiviral ganciclovir,
valganciclovir, have promising effect to control the infection.[8]
e

Herpes simplex virus Infection

They are member of herpesviridae family containing double
stranded DNA. It is found in two forms HSV 1 and 2. HSV1 causes
gingivostomatitis, pharyngitis, and not very often in genital
infection but HSV2 mainly involve in the genital herpes. Infection
with this virus occurs primarily through direct contact with
infected lesions. Neonates acquire infection through an infected
vaginal canal during birth. Postnatal infection can be spread
through infected persons kissing or touching the infant.[8]
Symptoms of this infection is about half of the women having
primary infection are asymptomatic. About 20% mothers show
symptoms like vulvovaginitis and cervicitis. About <30% of cases
present with characteristic vesicular and ulcerated genital lesions.
Infants show complications like- (a) Skin lesions: vesicles,
vesiculobullous, ulcer, pustular, erythematous, and scarring. (b)
CNS lesions: calcification, encephalomalacia, ventriculomegaly,
microcephaly, hemorrhage, seizures, meningoencephalitis, and
hypertonia/spasticity

(c)

Eye

lesions:

keratoconjunctivitis,

chorioretinitis, cataracts, retinal detachment.[8]

Diagnosis can be carried out by taking the sample of urine,
saliva, nasopharyngeal secretions. The person considers to be
infected, if the result of serum HSV IgM, HSV PCR of the CSF or
HSV culture of lesions comes positive. PCR of CSF may come
negative in the first 5 days of infection. Skin, eye and mouth
infection can be easily detected in 24-36 hours by viral culture.
Treatment for this disease is Intravenous acyclovir (20mg/kg)
given for 14-21 days and blood cells count should be monitored

43

during treatment schedule. Adequate hydration also requires

minimizing kidney complications.[8]
2.6.2

Infection Agent in The Trigger

Most likely, the infant infected by Rubella virus during
gestation periodic. That we know, rubella virus can transmitted easily
through direct contact and respiratory system. When in pregnancy
periodic, the son had symptom like maculopapular rash and fever. And
then after the infant was born, in the first year appear some symptoms
on the infant, like cataract, hearing lack, microcephaly, and delayed of
growth and development. The symptoms of infant and the son are
through to the symptoms that rubella virus can cause. If fetus infected
by rubella virus in gestation periodic, it can cause congenital rubella
syndrome.[8]

2.7 Congenital Rubella Syndrome

2.7.1 Definition
Congenital rubella syndrome is infant abnormalities that is caused by
2.7.2

rubella virus which can infect fetus and damage the fetus.[9]
Etiology
Infection with rubella virus is most severe in early gestation.
The virus may affect all organs and cause a variety of congenital
defects. Infection may lead to fetal death, spontaneous abortion, or
preterm delivery. The severity of the effects of rubella virus on the
fetus depends largely on the time of gestation at which infection
occurs. As many as 85% of infants infected in the first trimester of
pregnancy will be found to be affected if followed after birth. While
fetal infection may occur throughout pregnancy, defects are rare when
infection occurs after the 20th week of gestation. The overall risk of
defects during the third trimester is probably no greater than that
associated with uncomplicated pregnancies.[10]

2.7.3

Symptom

44

Rubella virus has been isolated from many different organs and
cell types from infants infected in utero, and rubella induced damage is
similarly widespread. Clinical features of congenital rubella syndrome
may be grouped into three broad categories: (1) transient effects in
infants, (2) permanent manifestations that may be apparent at birth or
become recognized during the first year, and (3) developmental
abnormalities that appear and progress during childhood and
adolescence. The classic triad of congenital rubella consists of
cataracts, cardiac abnormalities, and deafness. Infants may also display
transient symptoms of growth retardation, rash, hepatosplenomegaly,
jaundice,

and

meningoencephalitis.

Central

nervous

system

involvement is more global. The most common developmental

manifestation of congenital rubella is moderate to profound mental
retardation. Problems with balance and motor skills develop in
preschool

children.

Severely

affected

infants

may

require

institutionalization. Progressive rubella panencephalitis, a rare

complication that develops in the second decade of life in children
with congenital rubella, is a severe neurologic deterioration that
inevitably progresses to death.[11]
2.7.4

Pathogenesis
Maternal viremia associated with rubella infection during
pregnancy may result in infection of the placenta and fetus. Only a
limited number of fetal cells become infected. The growth rate of
infected cells is reduced, resulting in fewer numbers of cells in affected
organs at birth. The infection may lead to deranged and hypoplastic
organ development, resulting in structural anomalies in the newborn.
The timing of the fetal infection determines the extent of teratogenic
effect. In general, the earlier in pregnancy infection occurs, the greater
the damage to the fetus. Infection during the first trimester of
pregnancy results in abnormalities in the infant in about 85% of cases,
but detectable defects are found in about 16% of infants who acquired

45

infection during the second trimester. Birth defects are uncommon if

maternal infection occurs after the 20th week of gestation. Inapparent
maternal infections can produce these anomalies as well. Rubella
infection can also result in fetal death and spontaneous abortion.
Intrauterine infection with rubella is associated with chronic
persistence of the virus in the newborn. At birth, virus is easily
detectable in pharyngeal secretions, multiple organs, cerebrospinal
fluid, urine, and rectal swabs. Viral excretion may last for 1218
months after birth, but the level of shedding gradually decreases with
age.[11]
2.7.5

Correlation of Congenital Rubella Syndrome with Cataract

Eye organogenesis started on 22nd day of pregnancy and lens
forming started on 4th week of pregnancy. Cataract is an abnormal
where appear opaque on the lens.[3] Lens abnormal can happen if the
rubella virus penetration and infected the lens before primary lens
formed and released from ectoderm surface. [3,12] When rubella virus
infected the fetus, like the other infectious agent, rubella will replicated
and this can cause cellular broken (necrosis). Because the fetus still
have immature immunity, it cause the fetus dont have inflammatory
responses.[12]
The primary lens forming finished on 6,5 th week of pregnancy
and got ready to formed lens fibrous. So the correlation is the virus
rubella that cause congenital rubella syndrome can infect embryos
lens so that can cause cataract on infant. But if the rubella virus
infected the embryo on 7th week of pregnancy, cataract will not happen
but the infant will have hearing loss.[7] Because when 7th week of
pregnancy the organogenesis of ear had not finished.

2.8 Determine The Z-Scores for The Trigger

- Age
: 7 months
- Gender
: girl
- Weight now
: 5,1 kg
- Body length now
: 55 cm
- Head circumference now : 39 cm
46

- Born weight
2.8.1 Weight for Age[13]

: 3,15 kg

x
x

Result:
0 month = 0 SD > z-score > -2 SD (normal)
7 months = z-score < -3 SD (severely underweight)
Interpretation :
When the infant was born (0 month), the girl infant with weight
3,15 kg had a normal category according to her age. It means, the
infant had a good nutrition.
But when she is 7 months-age, she has a severely underweight
category and it means shes in lack nutrition condition.

2.8.2

Length for Age[13]

47

Result :
7 months = z-score < -3 SD (severely stunted)
Interpretation :
When she is 7 months-age and has length 55 cm, she is severely
stunted for her age.

2.8.3

Head Circumference for Age[14]

48

Result :
7 months = z-score < -2 SD
Interpretation :
When she is 7 months-age and has head circumference 39 cm, she
is in microcephaly category. Because for her age, her head
circumference is lower than the normal score. So, most likely she
has a delayed brain development.

2.8.4

Weight for Length[13]

49

Result :
7 months-age = 2 SD > z-score > 1 SD (normal/proportional)
Interpretation :
The girl infant who has weight 5,1 kg and length 55 cm, has a
normal weight for her length or proportional body.

2.8.5

How is The Infant Growth (The Trigger)?

After put the plot on the growth chart, we just can conclude
that the infant has a lack nutrition, so her weight and her length for age
are not normal. Although her proportional body is good, but in her age,
she just has delayed growth. And also theres the correlation between
her head circumference and her development status. Because she is
microcephaly (brain development is not normal), her development also
delayed.

2.9 KPSP (Kuesioner Pra-Skrining Perkembangan)

The purpose of screening is to find out normal or not normal
child development. Schedule of KPSP screening done at the time when
the child reaches the age of 3, 6, 9, 12, 15, 18, 21, 24, 30, 36, 42, 48,
54, 60, 66 and 72 months. When the parents came with complaints of
her son had problems in growth and development on the age of the
child outside the screening schedule, then use the nearest screening age
for KPSP younger.[15]
How to use the KPSP according to the Ministry of health of
Republic Indonesia in 2012:[15]
1. At the time of screening, children must carry.
2. Specify the age of the child by making it in a month, when the age
of the child over 16 days rounded up to 1 month. Example: infants
aged 3 months 16 days rounded up into 4 months when infant age
3 months 15 days rounded up to 3 months.
3. After determining the age of the child select KPSP that correspond
to the age of the child.

50

4. KPSP consists of two kinds of questions:

a. questions answered by the mother or caregiver of a child.
Example: "can babies eat cake?"
b. orders to the mother or caregiver of the child or the officer to
perform the duties that are written on KPSP.
Example: "on the position of your baby is supine, baby pull
onhis wrist in step by step into a sitting position"
5. Read the first with good questions that exist. When it is not clearly,
free to ask more in order to understand before implementing.
6. Questions answered in sequence one by one.
7. Each question has only one answer Yes or no.
8. Check again all questions and answers.

1.

Interpretation Of The Results of KPSP:[15]

Calculate the answer Yes (if answered could or often or

2.
3.

sometimes).
Calculate the answer No (if the answer has never been or never).
If the answer YES = 9 10, child development in accordance with

4.
5.
6.

the developmental stage (S).

If the answer YES = 7 or 8, child development doubt (M).
If the answer YES = 6 or less, chances are there are deviations (P).
Give a mark if the answer is not on any number.
For children with development of the suit (S):[15]
1. The parents or caregiver the child already parenting well.
2. Parenting children subsequently continued to perform in
accordance with the chart of stimulation to age and readiness of the
child.
3. The involvement of parents in every opportunity for stimulation.
No need to take a special moment. Perform stimulation in daily
activity.
4. Include the child every Posyandu activities.
For kids with DUBIOUS Development (M):
1. Consult the number does not answer, ask what type of stimulation
is given more frequently.
2. Do the intensive stimulation for 2 weeks to pursue a failed child.
3. If the child is sick, do health checks on your doctor or pediatrician.
Ask is there any disease in the child that impede its development.
4. Do KPSP repeated after two weeks of using the same KPSP list at
the time of the first child is assessed.

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5. If the child has already moved the KPSP and first could've all done.
Do it again for the appropriate age KPSP children.
For example, the age of the child is now 8 months two weeks and
he could only 7-8 Yes. Perform stimulation for two weeks. At the
time of assessing KPSP. KPSP first use back 6 months. When all
could, for children age 9 months, can be implemented KPSP 9
months.
6. Do routine screening, make sure children do not experience failed
again.
7. If after two weeks of intensive stimulation, the answer still (M) =
7-8 answers Yes. Consult a pediatrician or to hospitals with the
facilities of the clinic grew swell.[15]

52

CHAPTER III
CONCLUSION
That baby has disorder of vision, hearing, and delayed of growth and
development caused by the Rubella virus infection during first trimester of
gestational age

REFERENCE
1. Moorfields Eye Hospital. Cataract Service Patient Information: Cataract.
London: NHS Foundation Trust; 2014.
2. Royal College of Ophthalmologists and Royal National Institute of Blind
People. Understanding Cataracts. U.K: RNIB; 2013.
3. Sadler, T. W. Langmans Medical Embryology. 12th Edition. Philadelphia:
Lippincott Williams & Wilkins, a Wolters Kluwer; 2012.

53

4. F.Paulsen & J.Waschke. 2012. Atlas Anatomi Manusia Sobotta, Edisi 23

Jilid 1. Jakarta. Penerbit Buku Kedokteran EGC.
5. Marcdante, Karen J., et al.Nelson Essentials of Pediatrics. 7th Edition.
Singapore: Elsevier; 2015.
6. World Health Organization. Newborn and Infant Hearing Screening: Current
Issue and Guiding Principles for Action. Switzerland: WHO Press; 2010.
7. Ministry of Health. National Vision and Hearing Screening Protocols, Revised
2014. Wellington: Ministry of Health; 2014.
8. Rajnish, Kumar Yadav, Maity Siddhartha, and Saha Sudipta. A review on
TORCH: groups of congenital infection during pregnancy. Journal of
Scientific and Innovative Research.2014; 3 (2): 258-264.
9. Kliegman, R. M., et al. Nelson Textbook of Pediatric. 19th Edition. Canada:
Elsevier; 2011.
10. CDC. Centers for Disease Control and Prevention Epidemiology and
Prevention of Vaccine-Preventable Diseases 13th Edition: Rubella. MMWR;
2015.
11. Jawetz., et al. Medical Microbiology 27th Ed. McGraw-Hill Education.2016.
12. Nugroho, Dimas Adi dan Muyssaroh. Tuli Kongenital Diduga Akibat Infeksi
Rubella dan Sitomegalovirus. Diponegoro University: Medical Hospital;
2014; Vol 2.
13. World Health Organization. WHO Child Growth Standard. France: WHO
Press; 2006.
14. Nellhaus, G. Composite International & Interracial Graphs, Pediatric 41:106,
1968.
15. Departemen Kesehatan Republik Indonesia. Pedoman pelaksanaan stimulasi,
deteksi dan intervensi dini tumbuh kembang anak tingkat pelayanan
kesehatan dasar. Jakarta: Depkes RI; 2012.

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