Chapter 4

THE BIOLOGICAL AND ENVIRONMENTAL CAUSES OF

DEVELOPMENTAL DISABILITIES

This chapter starts with a review of the basic concepts of human reproduction and the stages
of human development in utero. The causes or etiologies of developmental disabilities are traced in
each of the stages of prenatal development or pregnancy, during the neonatal stage or birth process,
and the post natal stage or after birth. Aside from the biological or congenital etiologies, the
environmental factors that cause developmental disabilities are discussed. Some examples of
disabilities are presented.
Course professors are encouraged to use visual aids in presenting the different topics in this
chapter.
At the end of the chapter, the students should be able to:
1. define the following terms: heredity, genome, chromosomes, deoxyribonucleic acid, gene,
gametes, meiosis, ovum, spermatozoa, fertilization, embryo, fetus;
2. explain the basic concepts of human reproduction;
3. enumerate and discuss the basic principles of genetic determination;
4. describe the course of prenatal development and the stages of human reproduction;
5. identify the deviations from normal human development that can lead to developmental
disabilities;
6. define the examples of developmental disabilities; and
7. cite the significant outcomes of the Human Genome Project.

The Basic Concepts of Human Reproduction

Heredity is the mechanism for the transmission of human characteristics from one
generation to the next. Each person carries a genetic code or genome, a complete set of coded
instructions for making and maintaining an organism. The genome is inherited from both parents.
The genome is described as the blueprint or book of human life. It carries and determines all the
characteristics of a person yet to be born. The genome is located within each of the one hundred
trillion cells in the human body.

Fig.17 A Human Chromosome

 The nucleus inside the cell contains a complete set of the body's genome that is twisted into
forty-six packets of threadlike microscopic structures called chromosomes. The chromosomes come
in twenty-three pairs. Each pair is composed of one chromosome from the male (Y) and female (X)
parents, respectively. Each set has twenty-two single chromosomes called autosomes that carry the
physical, mental and personality characteristics. Meanwhile, the twenty-third pair, the XY
chromosomes, determines the sex of the organism. A normal female will have a pair of XX
chromosomes while a normal male will have an XY pair of chromosomes.

Fig. 18 The Human Genome

Fig. 19 Chromosome 8 decoded

Inside the chromosome is the long threadlike molecule and genetic substance called the
deoxyribonucleic acid or DNA. The DNA is a complex molecule that contains the genome. The
DNA molecule consists of two strands of twisted ladder-shaped structure called the double helix
that wrap around each other. The double helix was discovered in 1953 by American biochemist
James Watson and British biophysicist Francis Crick. The discovery of the double helix launched an
era of molecular genetics. The genetic code can be read in the rung of the ladder. The code is
spelled out by four chemicals or nucleotide bases, namely, Adenine, Thymine, Guanine and
Cystosine. Adenine pairs with Thymine, while Guanine pairs with Cystosine to form the rungs of
the ladder. There are three billion chemical pairs in the DNA that contain the human genetic code.

Fig. 20 The Nitrogenous bases of a DNA

Each DNA molecule contains many genes, the basic physical and functional units of
hereditary information. A gene is a specific sequence of the four nucleotide bases whose sequences
carry the information for constructing proteins. Proteins provide the structural components of the
cells, tissues and enzymes for essential biochemical reactions. Genes act as blueprint for cells to
reproduce themselves and manufacture the proteins that maintain life. Scientists estimate that there
are 80,000 to 140,000 or so genes that largely determine every physical characteristic in the human
body (Human Genome Project 2000).

Some Principles of Genetic Determination

Genetic determination is a complex affair. Much is unknown about the way genes work. But
a number of genetic principles have been discovered, among them the principles of dominant-
recessive genes, sex-linked genes, polygenically inherited characteristics, reaction range and
canalization.
Dominant-recessive genes principle. If one gene of the pair is dominant and one is recessive,
the dominant gene exerts its effect, overriding the potential influence of the recessive gene. For
example, brown eyes, farsightedness and dimples are common dominant genes that rule over blue
eyes, nearsightedness and freckles.
A recessive gene exerts its influence only if the genes of a pair are both recessive. If a
recessive gene is inherited from only one parent, the trait will not show. The person may never
know that he or she carries the recessive gene. Can two brown-eyed parents have a blue-eyed baby?
Yes, they can, if each parent carries a dominant gene for brown eyes and a recessive gene for blue
eyes. The parents have brown eyes because brown eyes are dominant over blue eyes. But both are
carriers of blueness and can pass on their recessive genes for blue eyes. With no dominant genes to
override them, the recessive genes will make the child's eyes blue.
Sex-linked genes principle. As mentioned earlier, females have two X sex chromosomes
and males have an X and a Y sex chromosome in their respective karyotypes. When one X female
chromosome combines with the X male chromosome, the XX chromosome results that make the
organism a female. Meanwhile, when one female X chromosome combines with the Y male
chromosome, the XY chromosome results that make the organism a male.
Polygenic inheritance principle. Genetic transmission is usually more complex than the
simple examples mentioned earlier. Poly (many) genic (genes) inheritance describes the interaction
of many genes to produce a particular characteristic. Considering that there are as many as 140,000
genes, the huge number of combinations possible is hard to imagine. Traits that are produced by the
mixing of genes are said to be polygenically determined.

Figure 21. The Female Reproductive System

Genotype and phenotype genetic heritage. Nobody possesses all the characteristics that
the genetic structure makes possible. Genotype refers to the person's genetic heritage or the actual
genetic material. The genotype is established at conception during the process of fertilization and
usually remains constant and does not change. On rare occasions, the constancy is disturbed when
mutation takes place or errors in cell division alter subsequent cell division. Genotype is not readily
available for actual inspection.
 Phenotype refers to the person's observable traits that may be used to draw inferences
about the genotype. The phenotype is the observable result between the genotype and the
environment.
________________________________________________________________________________

The Biological Sources of Developmental Disabilities

Basic terms in human reproduction

Gametes are the human reproduction cells which are created in the reproductive organs. The
ovaries of the female produce the ovum (ova) or egg cells while the testicles or testes of the male
produce the spermatozoa or sperm cells.
Meiosis is the process of cell division in which each pair of chromosomes in the cell
separates, with one member of each pair going into each gamete or daughter cell. Thus, each
gamete, the ovum and the sperm, has twenty-three unpaired chromosomes.

The ovum is only about one-fourth the size of a period, but it is the largest cell in the human
body. When a female is born, she already has about 400,000 immature ova in her two ovaries. Each
ovum is contained in its own small sac or follicle. After a female matures sexually (as early as age
nine to as late as sixteen) and until menopause, ovulation takes place once every twenty-eight days
when a mature follicle in one of her ovaries ruptures and expels its ovum. The ovum is about 90,000
times as large as the sperm cell. Thousands of sperm cells must combine to break down the ovum's
membrane barrier to allow even a single sperm cell to penetrate it.
In contrast to the ovum, the sperm, which is tadpole like and only one six-hundredth
(1/600th) inch from head to tail is one of the smallest cells in the body. Furthermore, sperms are
much more numerous, several millions, and more active than the ova. A mature male testicle
normally produces several hundred million sperms a day which are ejaculated in the semen at
Fig. 22. An egg cell and sperm cells Fig. 23. Anatomy of an egg cell and sperm
undermillion sperms
sexual climax. An estimated twenty must enter a woman's ovary at one time to make
scanning electron cells
fertilization likely. microscope
The fertilization of a female's ovum by a male's sperm starts the process of human
reproduction.
Fertilization results in the formation of a single cell called the zygote. In the zygote, two sets
of twenty-three unpaired chromosomes, one set each from the male and the female combine to form
one set of paired chromosomes. In this manner, each parent contributes fifty percent or half of the
zygote's genetic code or genome.
 Fig. 24. The fertilization process

Critical periods and developmental vulnerability during pregnancy

Certain periods of development during pregnancy are critical for both the growth and the
organism's vulnerability to injury and developmental risks. Vulnerability refers to how susceptible
the organism is to being injured or altered by a traumatic incident. A traumatic incident includes
such broad occurrences as teratogens or toxic agents, cell division mutation and other deviations
from the usual sequence of development.
Deviancy from the normal course of prenatal development results to the occurrence of
developmental disabilities. The organism in utero, the zygote, the embryo and the fetus are
vulnerable to injuries and developmental risks.
After birth during postnatal development, the newborn, the infant and the child are all
vulnerable and susceptible to injuries that can persist for the duration of the person's life.
________________________________________________________________________________

The Course of Prenatal Development

Development in utero covers about thirty-eight (38) weeks or two hundred eighty (280) days
or nine months of gestation or growth in the mother's womb. Prenatal development is divided into
three phases.
The Germinal Phase. The initial stage of prenatal development covers the first two weeks after
fertilization. The three significant developments during this phase are the creation of the zygote,
continuous cell division/cell and tissue differentiation and implantation or attachment of the zygote
to the uterine wall.

Creation of the zygote.

Reproduction begins with the
fertilization of a female's ovum by
a male sperm.

Fig. 25 From ovulation to

fertilization
 Ovulation occurs once every twenty-eight days or so, as an ovum out of hundreds of ova
matures and the single ripe ovum bursts from its follicle. The ovum is drawn into the fallopian tube
during the ninth to the sixteenth day of the menstrual cycle which is the fertile period. Ovulation
sends a chemical signal to unleash a carefully tuned sequence of biochemical substances. One
chemical substance dissolves the jellylike veil surrounding the ovum. Another chemical substance
softens the ovum's tough outer shell. Millions of sperms deposited by the male race to penetrate the
ovum's shell. Only one strong and healthy sperm succeeds. Once it enters the ovum, an electric
charge fires across the membrane and a signal causes the ovum to close, blocking the entry of other
sperms.
Fertilization takes place with the union of the genetic materials in the ovum and sperm cells.
The process occurs in the upper third of the Fallopian tube within eighteen to twenty-four hours
after sexual intercourse. When fertilization does not take place, "the womb weeps" and the
menstrual cycle continues the following month. When an ovum is fertilized, the menstrual cycle
ceases. The first sign of pregnancy is amenorrhea or the cessation of menses. The first menses is
called menarche; the final cessation of menses is called menopause, while excessive sometimes
painful menses is called menorrhagia.
The zygote is a new cell which results from the transmission of the genetic materials twenty-
four to thirty hours after fertilization. The zygote weighs about one twenty-millionth of an ounce.
This is one-sixteenth of a pound (2.2 pounds equals one kilo). The zygote carries the human genetic
code or genome, the instruction that orchestrates one's physical and mental traits and
sociobiological tendencies and the new person's entire lifelong blueprint of characteristics.

• Continuous cell division and cell tissue differentiation. Chemical reactions occur that
cause the zygote to divide repeatedly and generate new cells and tissues of different types.

Cell division occurs very rapidly in the first few days and progresses with considerable
speed. The zygote divides into two cells after thirty-six hours; four cells after forty-eight hours. In
three days, there is a small compact ball of sixteen to thirty-two cells. In four days, a hollow ball has
sixty-four to one hundred twenty-eight cells. By approximately one week, the zygote has divided
into about one hundred fifty cells.
Cell differentiation continues as the inner and outer layers of the organism are formed. The
inner layer of cells which develops into the embryo later on is called blastocyst. The outer layer of
cells that provides nutrition and support for the embryo is called trophoblast.

Fig. 26 The stages of development of an embryo

• Implantation or attachment of the zygote to the uterine wall.

 Implantation starts on the sixth to the seventh day when the blastocyst starts to attach itself
to the uterine wall. Two weeks after, from the eleventh to the fifteenth day, the blastocyst invades or
fully attaches itself into the uterine wall and becomes implanted in it.

What can go wrong during the germinal phase?

Abnormalities in the genes and chromosomes can occur. Both the speed of cell division and
the process of cell differentiation expose the zygote to trauma. Genetic disorders can be transmitted,
such as:
1. dominant and recessive diseases like Tay Sachs disease, galactosemia, phenylketonuria
(PKU), genetic mutations;
2. sex-linked inheritances such as Lesch Nyhan Syndrome, Fragile X Syndrome;
3. polygenic inheritances;
4. chromosomal deviations, the most common of which is Down Syndrome;
5. other sex chromosomal anomalies like Klinefelter Syndrome, Turner Syndrome; and
6. cranial or skull malformations such as anencephaly or absence of major portions of the
brain, microcephaly and hydrocephaly.

Biological causes of developmental disabilities are traceable to congenital or inherited

genetic materials as well as prenatal factors associated with teratogens or toxic substances,
maternal disorders, substance exposure or too much ingestion of alcohol and drugs and too much
smoking. The genetic disorders are discussed in the chapter on mental retardation.

The Embryonic Phase. The second phase of human development occurs from the end of the
germinal phase to the second month of pregnancy. The mass of cells is now called the embryo. The
three main processes during this phase are intensification of cell differentiation, development of the
support systems for continued cell development and organogenesis or the appearance of the
different organs of the body.

• Intensification of cell differentiation. During implantation, the mass

of cells form three layers from which every part of the human body will develop.

1. The ectoderm is the outermost layer of cells that will develop into the surface body parts,
such as the outer skin or the epidermis including the cutaneous glands - the hair, nails and
lens of the eye.
2. The mesoderm is the middle layer that will develop into the body parts surrounding the
internal areas, such as the muscles, cartilage, bone, blood, bone ureter, gonads, genital ducts,
suprarenal cortex and the joint cavities.
3. The endoderm is the inner layer of cells that will develop into the epithelium of the
pharynx, tongue, auditory tube, tonsils, thyroid, larynx, trachea, lungs, digestive tube,
bladder, vagina and urethra.

• Development of the life support systems. As the embryo's three layers of cells develop, the
life support systems develop from the embryo for the transfer of substances from the mother to
the zygote and vice versa. Very small molecules of oxygen, water, salt, and food from the
mother's blood are transferred to the embryo. Carbon dioxide and digestive waste from the
embryo's blood are transferred to the mother's blood.
1. The placenta is a disk-shaped mass of tissues in which small blood vessels from the mother
intertwine.
2. The umbilical cord contains two arteries and one vein that connects the embryo to the
placenta.
3. The amnion or amniotic fluid is a bag of water that contains clear fluid where the embryo
floats. The amnion provides an environment that is temperature and humidity controlled and
 shock proof. The amnion comes from the fetal urine that the kidney of the fetus produces at
approximately the sixteenth week until the ninth month or the end of pregnancy.

• Organogenesis is the process of organ formation and the appearance of body organs during
the first two months.
1. By the third week, the neural tube forms and eventually becomes the spinal cord. At the
same time, the eye buds begin to appear.
2. By the twenty-fourth day, the cells for the heart begin to differentiate.
3. The fourth week is marked by the first appearance of the urogenital systems. The arm and
leg buds appear. The four chambers of the heart take shape and blood vessels surface.
4. On the fifth to the eighth week, the arms and legs differentiate further. The face starts to
form but it is not very recognizable. The intestinal tract develops and the facial structures
fuse. The embryo weighs about one-thirtieth of an ounce.

1. Once every 28 days or so, an 2. Millions of sperm race from the vagina,
egg matures in an ovary, bursts from its through the uterus and into the Fallopian tube.
follicle and enters the Fallopian tube. A single sperm fertilizes the egg; the others are
locked out.

3. Cell division begins, and the embryo drifts 4. The embryo anchors itself to the wall of
down the Fallopian tube, reaching the uterus in the uterus, where it develops into a fetus.
about a week.
Figure 27. Human Development "In Utero”

What can go wrong during the embryonic phase?

The cells divide very rapidly during organogenesis. The organs and systems that are
developing are especially vulnerable to environmental changes. Induced abortion in case of
unwanted pregnancy can disturb normal processes of organogenesis. Chromosomal abnormalities
can cause spontaneous abortion mostly in the second or third month.
During specific periods, for example, if the central nervous system is the primary system
that is developing, the cells that constitute the central nervous system - the brain and the spinal cord
- divide more rapidly than the other organs. At this time the central nervous system is most
vulnerable to trauma. Ingestion of dermatogens or toxic agents from alcohol, drugs and nicotine,
artificial food additives, stress and accidents can cause trauma and affect the development that is
taking place.
Physical abnormalities can result as well. At birth, there are infants born with extra or
missing limbs and fingers, ears and other body parts, a tail-like protrusion, heart or brain, digestive
or respiratory organs outside the body. Facial development and body shapes can be affected by what
scientists describe as "accidents in cell development." Some clusters of cells that are meant to
develop into certain organs and parts of the body fail to follow the precise genetic instructions and
appear at birth as inhuman, with the face for example, resembling that of a frog or other animals,
statues, or even pictures. People tend to attribute such occurrences to maternal impressions. But it is
clear that the scientific explanation goes back to the disturbances in development during pregnancy.

The Fetal Phase. The third phase covers seven months that lasts from the third to the ninth month
of pregnancy on the average. The length and weight of the fetus mentioned below are for average
Caucasian babies. Asians are generally shorter and lighter.

1. At three months, the fetus is about three inches long and weighs about one ounce. It is
active, moves its arms, legs and head, opens and closes its mouth. The face, forehead,
eyelids, nose, chin, upper and lower arms are distinguishable. Genitals can be identified as
male or female.
2. At four months, the fetus is five and a half inches long, weighing about four ounces. Growth
spurt occurs in the body's lower parts. Prenatal reflexes are stronger. Arms and leg
movements can be felt by the mother.
3. At five months, the fetus-is ten to twelve inches long and weighs one-half to one pound or
almost half a kilo. Structures of the skin, toenails and fingernails have formed. The fetus is
more active and shows preference for a particular position in the womb.
4. At six months, the fetus is fourteen inches long and has gained one-half to one pound. The
eyes and eyelids are completely formed. A thin layer of hair covers the head. Grasping reflex
is present. Irregular breathing occurs.
5. At seven months, the fetus is almost seventeen inches long, has gained one pound and
weighs about three pounds.
6. During the eighth and ninth months, the fetus continues to grow longer to about twenty
inches and gains about four pounds. Fatty tissues develop and the functioning of the organ
systems steps up. The fetus normally weighs six to eight pounds shortly before birth.
 Figure 28. The Fetal Development
What can go wrong during the fetal phase?
The same effects of teratogens can occur and disturb normal development. The fetus
continues to be vulnerable to trauma that can result to the occurrence of disabilities. Deliberate
termination of pregnancy or abortion for whatever reasons - poor health, rape, incest, out-of-
wedlock relations, if unsuccessful can lead to disabilities. Inadequate birth weight due to
malnutrition or early birth places the infant at developmental risks.

Birth of the infant. After full gestation for thirty-eight weeks, the fetus leaves the intrauterine
environment of the mother's womb and begins life in the outside world. There are changes in the
mother's body that start around the fourth month or mid-pregnancy. These changes are necessary so
that the natural birth process can occur normally. Some of the changes are:
 1. Rearrangement of the muscle structure of the uterus to facilitate fetal expulsion or to permit
the normal passage of the fetus through the birth canal.
2. Shortly before birth and during the onset of labor which lasts for seven to twelve hours on
the average, the upper part of the cervical area undergoes expansion. By the time the fetus is
passing through the birth canal, the muscle structure of the cervix has loosened and
expanded. The process is called effacement that enables the fetus to be expelled.

The normal and desirable position of the fetus when labor begins is with the head toward the
cervix. This position occurs in almost 80% of all childbirth. As the fetus begins to move downward
into the birth canal, the pelvic girdle or the bony hip structure stretches more. The pressure of the
pelvic girdle also molds the head of the fetus. This is the reason why newborn babies have strangely
shaped heads. After a few days, the head returns to its natural shape.
All the movements during birth are generated by the muscle contractions of the uterus called
labor. While the fetus is moving downward, it turns clockwise from the effect of labor.
A few minutes after the infant is delivered, the placenta is expelled. The respiratory tract is
immediately cleared of the remaining amniotic fluid and mucus. The doctor provides the
stimulation for the infant to begin to breathe usually by gently patting the buttocks. The infant's first
cry expands the lungs with air for the first time and starts the process of respiration.

Fig. 29 Normal Delivery, Lateral Flexion

Fig. 30 Variations of Breech Positions

 Fig. 31 Transverse Fetal Position

What can go wrong during the birth process?

The birth process represents another important time when potential risks to the fetus or
infant are high. The birth process is very complex and at times may not proceed smoothly.
Difficulties can arise that result to developmental disabilities.
1. Physical trauma or mechanical injury during birth may injure or damage the brain and
impair intellectual functioning.
• In precipitous birth where labor is short (less than two hours) skull molding that should
be slow and smooth may affect and injure the brain.
• In breech birth where the buttocks instead of the head presents itself first poses
substantial danger because the head reaches the pelvic girdle during the later stages of
labor when there is more pressure exerting on it.

The abnormal pressure generated in breech birth rapidly compresses the still soft skull which
crushes portions of the brain. Also, the rapid pressure and shifting of cranial bones can damage the
circulatory system around the brain and lead to hemorrhage in the skull and brain damage.
Usually, a fetus in breech position is delivered by caesarian section. Abdominal surgery is
done and the fetus is extracted from the uterine wall.
• In the transverse position where the fetus lies across the birth canal,
the same problems in breech birth are present.
-
2. Anoxia or asphyxia occurs in breech delivery and deprives the infant of adequate supply
of oxygen for a period long enough to damage the brain. The infant must depend entirely on
the umbilical cord as a source of oxygen until birth is completed. However, the breech
position makes the umbilical cord too short to remain attached while the head is being
expelled. The placenta can become partially or completely detached while the head is still
inside the birth canal. This eliminates oxygen supply and severe brain injury can happen.
________________________________________________________________________________

Newborn Screening - Your Retarded Child Could Have Been Normal

A drop of blood can save your baby from mental retardation and death. Republic Act No.
9288 otherwise known as the "Newborn Screening Act of 2004," is an act promulgating a
comprehensive policy and a national system for ensuring newborn screening. The law was
developed jointly by the Department of Health and the National Institute of Health of UP Manila.
The law institutionalizes the National Newborn Screening System (NBS). It insures that
every baby born in the Philippines is offered newborn screening; the establishment and integration
of a sustainable newborn screening system within the public health delivery system; that all health
practitioners are aware of the benefits of NBS and of their responsibilities in offering it; and that all
parents are aware of NBS and their responsibility in protecting their child from any of the disorders.
 What is newborn screening? Ask any expecting couple if they would want a boy or a girl
and they would usually answer: "We don't really care. We just want our baby to be normal."
Expecting couples (especially first timers) see to it that they visit their doctor regularly to ensure the
health of their unborn child. What a lot of people don't know is that a perfectly healthy looking
child at birth may grow up to be mentally retarded or could even die soon after if not given the
proper tests immediately after birth. A simple test given 24 to 72 hours after birth can mean the
difference between having a normal child or a mentally retarded child.
This test is aptly called Newborn Screening. After giving birth, parents should request their
attending health practitioner (if not prompted by them) to have their babies go through Newborn
Screening. Ideally the test should be a standard operating procedure for hospitals and other birthing
facilities.
Newborn Screening is a very simple test that should be given to the baby 24 hours after
giving birth. Take note that if the test is given too late, the baby can either die or eventually be
severely retarded. It is a blood test wherein a blood sample will be taken from the heel of the child.
The sample, which is dropped in a special paper, is then sent by the hospital to a centralized testing
center which is run by the National Institute of Health at its head office in UP Manila.
The test primarily checks for five metabolic disorders that could affect the health of the child
within the first few weeks of life. If gone undetected, these disorders may cause severe mental
retardation, cataracts, severe anemia Kernicterus or even death for the child. However, if these
disorders are diagnosed early enough, the child can grow up as a normal healthy human being.
The, five metabolic disorders that Newborn Screening can detect are:
1. Congenital Hypothyroidism,
2. Congenital Adrenal Hyperplasia,
3. Galactosemia,
4. Phenylketonuria, and
5. Glucose Six Phosphate Dehydrogenase deficiency.

It is estimated that newborn screening can save at least 33,000 babies annually from the
disorders. Currently, only 6 percent of the over 1.5 million births undergo newborn screening. There
are about 1,700 hospitals in the country and currently, only 400 hospitals and birthing facilities
implement NBS. By 2006, all hospitals and birthing facilities must provide NBS services. It shall be
a mandatory requirement for licensure of hospitals and birthing facilities.
Lives can be saved by this simple test. If the baby is shown to be positive for any of the disorders,
the parents will be immediately informed and more tests will be done to the child to confirm the
test. Once properly diagnosed, proper treatment and care can be given to the baby to correct the
disorder. The baby can then go on to live a happy and normal life.
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Principles of Normal Development in Infancy and Early Childhood

When there are problems in prenatal development and birth as discussed earlier, deviations
from the normal developmental milestones in infancy and early childhood can be expected. The
general principles of normal development are useful guides in observing the presence of such
deviations.
1. Normal development progresses in orderly step-by-step sequences.
2. All areas of development are interrelated.
3. The skills acquired earlier determine how well later skills will be learned.
4. Although there are developmental milestones in each of the growth areas, children manifest
individual differences in their rate of development. Each child develops at his or her own
pace.

Gross Motor Skills

 Activity Approx. Activity Approx.
Age Age
raises chin while Iying on stomach 1 mo. walks alone unsupported 18 mos.
raises chest while lying on stomach 2 mos. sits self in small chair 18 mos.
reaches for objects but misses 3 mos. walks carrying large objects 20 mos.
head set forward, steady lumbar 4 mos. raises self from sitting position with 22 mos.
curvature hips first
turns over from lying to supine 4-6 mos. runs well without falling 2 yrs.
position
sits on lap, grasps objects 5 mos. kicks ball without overbalancing 2 yrs.
sits on high chair, grasps objects 6 mos. jumps with both feet on place 2.5 yrs.
sits alone with good posture 10 mos. picks up objects from floor without help 2.5 yrs.
creeps and crawls, pulls to standing 11 mos. stands on one foot without falling over 3 yrs.
position
walks with help, walks alone 12 mos. pedals tricycle 3 yrs.
climbs stairs steps 13 mos.

Receptive Language

understands few words 11 mos. points to 5 body parts on self or doll 1 yr. 10
mos.
points to 1 named body part on 1 yr. follows 3-step command given once 2 yrs.
request
stops activity to name objects 1 yr. understands 200-400 words 2 yrs.
stops activity to respond to "no" 1 yr. understands 800 words 3 yrs.
points to familiar persons, objects 1 yr. 3 verbalizes past experiences 3 yrs.
on request mos
follows one-step simple command 1 yr. 3 points to big, little, soft, loud 3 yrs.
mos
points to 3 named body parts on 1 yr. 5 follows commands with 2-3 actions 4 yrs.
request mos
follows two-step command 1 yr. 8 understands app. 1,500 words 4 yrs.
mos
points to 5-6 pictures of common 1 yr. 9
objects on request mos

Expressive Language

says first word 10 mos. uses plurals 2 yrs.

shakes head and says "no-no" 11 mos. asks questions 2 yrs.
imitates sounds of others ("mama") 1 yr. uses negatives in speech 2.5 yrs.
uses 3 words in speaking 13 mos. enunciates vowel sounds 2.5 yrs.
vocabulary
use of verbs appear 14 mos. enunciates consonant sounds 3 yrs.
uses at least six words 17 mos. speech is about 75 to 80% intelligible 3 yrs.
refers to self by name 21 mos. uses 3 to 4 syllable words 3 yrs.
uses me and you 2 yrs. says 6 to 8 word sentences 4 yrs.
says 50 to 200 words 2 yrs. speech is about 90 to 95% intelligible 4 yrs.
knows full name 2 yrs.

Eating Skills

sucks and swallows liquids birth holds cup with two hands 1 yr.
gagging reflex birth chews table food 1.3 yrs.
sucks and swallows liquids from 2 mos. grasps spoon & places in mouth with 1.3 yrs.
spoon some spilling
eats strained baby foods from 3 mos. can manage spoon without help with 1.5 yrs.
spoon little spilling
brings hands against bottle when 3 mos. requests for food when hungry 1.11 yrs.
eating
sips from a cup that is held 4 mos. requests for liquid when thirsty 1.11 yrs.
gets excited at sound of food 4 mos. can hold small glass with one hand 2 yrs.
preparation without help
holds spoon with assistance 5 mos. can use fork to get food 3 yrs.
can feed self soft food 6 mos. can spread butter on bread 3 yrs.
begins to bite and chew food 6 mos. can help set table 4 yrs.
holds own bottle 7 mos. can use a fork to separate food 4 yrs.
can chew small lumpy food 8 mos. can pour water from pitcher to glass 4 yrs.
Can take bottle out of mouth & put 9 mos. can use a knife to cut food 5 yrs.
it back
Can use fingers to feed self 10 mos. can set the table without assistance 6 yrs.

Dressing Skills

can pull and tug at clothing 3-4 mos. attempts to place feet in shoes 30 mos.
holds out limbs when dressing 1 yr. can choose own outfit 3 yrs.
can remove shoes by self 1.2 yrs. can unbutton clothes 3 yrs.
can place socks on feet by self 1 mo. places clothing on in correct direction 3.6 yrs.
can pull up pants 1.6 yrs. can dress and undress with supervision 4 yrs.
can unzip 1.7 yrs. can button front buttons on clothing 4.8 yrs.
attempts to put on own shoes 2 yrs. can zip up and down/snap simple snaps 5 yrs.
pulls up pants 2 yrs. can tie shoes with bows 5.6 yrs.
undresses self 30 mos. can unlace bows on shoes 5.6 yrs.
can put on shirt and coat 30 mos. dresses self completely 5.6 yrs.

Grooming Skills

cries when removed from 5 mos. can brush teeth with assistance 3.6 yrs.
bathroom
splashes water with hands and feet 6 mos. can wash and dry face with towel alone 4 yrs.
grimaces when face is washed with 6 mos. can brush teeth alone 4 yrs.
cloth
exhibits resistance to washing face 8 mos. can put away toys with supervision 4 yrs.
can open and pull out drawers 1.6 yrs. can hang up clothes on hook 4 yrs.
can wash hands and face but not 2 yrs. brushes hair alone 5 yrs.
well
can wash front of body while in 2 yrs. hangs up own clothes alone 5 yrs.
bath
can run a brush through hair 2.5 yrs. washes self alone 6 yrs.

Toileting Skills

about 4 bowel movements a day 1 mo. climbs on to toilet by self 2.6 yrs.
associated with waking up
2 bowel movements a day either at 2 mos. can control bladder for up to 5 hours 2.6 yrs.
waking up or after being fed
some delay shown between feeding 4 mos. begins to develop a routine for 3 yrs.
and elimination elimination
stays dry for 1 to 2 hours interval 7 mos. attempts to wipe self but fails 3.6 yrs.
may awaken at night & cry to be 1.5 yrs. stays dry at night 4 yrs.
changed
may indicate wet pants 1.5 yrs. can toilet self without assistance 5 yrs.
has only occasional accidents 1.10 yrs. washes & dries own hands after 5 yrs.
toileting
uses same words for both functions 1.10 yrs. one bowel movement a day 5 yrs.
of elimination
begins to differentiate between 2 yrs.
elimination functions
Fig. 32 Developmental Milestones

When is a developmental disability present?

A deviation from the developmental milestones from four to six months is enough ground to
suspect that there might be a disability. For example, at six months the infant is still not able to raise
his or her chin when made to lie on the stomach, a gross motor skill that is observable at one month.
At two years, the child cannot walk alone with support. There is no receptive language yet at one-
and-a-half years of age, that is, the child does not respond to the adult's motivation. At 2 years,
when the child is expected to understand 200 to 400 words, the receptive vocabulary is less than
100. In the development of expressive language, at age three, the child can say only a few words
that are mispronounced.
When deviations from the normal milestones of development are observed, the parents and
caregivers must seek the help of medical persons immediately. Many times, the situation worsens
when long periods of time are allowed to elapse before seeking professional help. The medical
doctor is the best person who can tell if there is cause for worry in the presence of perceived
deviations from normal development.

The Human Genome Project

The twentieth century is recorded in man's history as the age of physics and information
technology. The atom was split and silicon was turned into computer chips. But the twenty-first
century will be recorded as the age of biotechnology with the onset of new fields of medical
science, the so-called new genetics, genomics and neurogenetics. Research work in these young
fields is strongly influencing the current thinking about the link between genes and specific
diseases, a number of which cause developmental disabilities.
 Fig. 33 Mapping of the Human Genome
The Human Genome Project (HGP) is coordinated effort among scientists from the
United States, Japan, and other countries to map and characterize all human genetic materials by
determining the complete sequence of the DNA in the human genome. The project started in 1990
and was completed in 2003. The ultimate goal was to discover and map the book of life, the
precise biochemical code for each of the thousands of human genes and make the information
available for further biological study. The findings on genetic mapping has revealed a wealth of
information on how each gene functions and malfunctions to trigger deadly diseases like cancer,
AIDS, cardiovascular diseases, diabetes and arthritis. Genes that undergo mutation, or changes in
the original function have been identified. Gene mutation causes many diseases that can now be
studied better. The research findings include data on genes related to mental retardation and other
developmental disabilities. For example, in Huntington's disease, which is an inherited disorder,
nerve cell clusters in the brain degenerate that result to rapid jerky movements. Niemann-Pick Type
C disease is a hereditary condition that leads to early death among infants. When the information on
such diseases is completed, drugs can be created based on people's unique molecular information.
Drugs can be customized or made suitable to individual genetic profiles so that each person can
respond properly to medical treatment. DNA tests can be developed to diagnose a disease, confirm a
diagnosis, provide information on the course of the disease, confirm the existence of a disease in a
person without symptoms and predict the risk of future diseases in healthy individuals and their
offspring.
Another major benefit of genome mapping is that it will make possible an entirely new
approach to biological research. Instead of studying one or a few genes at a time, whole genome
sequences can be studied using new automated technologies. In the next twenty years, there will be
a big number of genome-related discoveries and new technologies that will introduce great changes
in the field of medicine.
 Still another contribution to scientific progress is in the area of gene therapy and gene
enhancement. These new fields of medicine hold the potential of treating or even curing inherited
and acquired diseases. Normal genes can be used to replace defective ones that cause
developmental disabilities.
________________________________________________________________________________

Read and Respond

Test on Content Knowledge

Find out how much you have learned from this chapter by doing the following activities.
1. Fill in the matrix on prenatal development. Write the sequence of growth in each stage of
development. Identify the causes of developmental disabilities during this period. Define the terms
specific to each stage.

Stages of Prenatal Development Causes of Developmental Disabilities

II

III

The Birth Process

2. Definition of Terms: List all the significant terms and define each of them.
3. What is Newborn Screening? How are mental retardation and other developmental disabilities
detected after birth? What are the advantages of newborn screening?
4. Cite examples of deviations from the normal developmental milestones that you have observed.

Reflection and Application of Learning

1. Revisit the class of children with special needs. Ask the teacher for permission
for you to talk to one mother. Ask her about the history of her child's disability.
2. Relate the information you have gathered to the content of the chapter.
3. Share your findings with each other.