CHAPTER 4- THE BIOLOGICAL AND ENVIRONMENTAL CAUSES OF

DEVELOPMENTAL DISABILITIES

Overview

In understanding individual differences and developmental milestones require

taking into consideration the roles of nature and nurture theories. In special and
inclusive education, the nature and nurture will aid us to understanding better why
disabilities occur.

Lesson 1 - The Basic Concepts of Human Reproduction

Sperm and ovum fuse at the point of conception.

WHAT TO EXPECT: After this lesson, you can

1. define heredity, chromosomes, DNA, gene, gamete, fertilization, ovum,

spermatozoa, embryo and fetus.

2. explain the basic concepts of human reproduction

Pre discussion

This lesson will give you a review of the basic concepts and principles of human
reproduction and the functions of heredity in the transmission of trait from parents to
offspring.

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 instruction for making and maintaining an organism. The genome is
inherited from both parents. The genome is described as the blueprint of book of human
life. It carries and determines all the characteristics of a person yet to be born. The
genome located within each of the one hundred trillion cells in the human body.

The nucleus inside the cells 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.

Inside the chromosomes is the long threadlike molecule and genetic substance
called the deoxyribonucleic acid or DNA. The DNA molecule consist two stands 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
spell 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.

Each DNA molecule contains many genes, that basic physical and functional unit
of hereditary information. A gene is a specific sequence of the four nucleotide bases
whose sequences carry the information for constructing proteins. Protein provides 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 gene 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 carries 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 Y chromosomes in their respective karyotypes.
When one X female chromosomes combines with the X male chromosomes, the XX
chromosome results that make the organism a female. Meanwhile, when one female
chromosome combines with the Y male chromosome the XY chromosome results that
make the organism a male.

Polygenic inheritance principle. Genetic transmission is usually morecomples

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 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.

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.

Assessment:

1. Make an analysis of the different physical trait that you have. Trace your traits 3
generations back using a family tree or pedigree analysis.

References:

Lesson 2 – The Biological Sources of Developmental Disabilities

Pre discussions

The developmental milestone of every individual can be critical particularly in the

early stage that may result to developmental disabilities. The role of chromosome, cell
division and kind of genes carried by parents could lead to some disabilities to the new
individual.

WHAT TO EXPECT: After this lesson, you can discuss the principles of genetic
determination and analyze the role of heredity in the genetic make-up of a person.

Let us define the important terms in this lesson.

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 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 400,000immature 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 sexual climax. An estimated twenty million
sperms must enter a woman’s ovary at one time to make fertilization.

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 female combine one set of paired chromosomes. In this manner, each parent
contributes fifty percent or half of the zygote’s genetic code or genome.

Critical periods and development vulnerability during pregnancy.

Certain periods of development during pregnancy are critical for growth and the
organism’s vulnerability to injury and development risks. Vulnerability refers to how
susceptible the organism is being injured or altered by a traumatic incident. A traumatic
incident such broad occurrences as teratogens o 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 new born, the infant and the child are all
vulnerable and susceptible to injuries that can persist for the duration of the person’s
life.

Assessment

1. How important are the cell division in the formation of the new individual and in the
transmission of hereditary traits

References

Lesson 3 - Pre-Natal Development and New Born Screening

Pre discussion

Fertilization marks the development of a new individual. The development in

utero covers about thirty-eight (38) weeks or two hundred eighty (280) days or nine
months of gestation o growth in the mother’s womb. Prenatal development is divided
into three phases.

WHAT TO EXPECT: After the lesson, you can explain the prenatal development and
the stages of human reproduction.

Prenatal Development (from conception to birth)

Prenatal development occurs in three stages: the germinal stage is characterized

by rapid cell division and increased complexity of the organism. The embryonic stage is
characterized by the rapid growth and differentiation of major body system and organs.
The fetal stage is characterized by the rapid growth and changes in body form.

Nearly all defects and three-quarters of all spontaneous abortions occur during
the critical first trimester of pregnancy. Important dangers include improper maternal
nutrition, drug intake by the mother, and incompatibility of blood type with the mother’s
blood type, medical x-rays, and external environmental hazards. Hazards similar to
some of these that affect the father’s sperm can also harm the offspring.

The prenatal period is ten lunar months of twenty-eight days in length or nine
calendar months. It has been reported that the average length of the prenatal periods is
38 weeks or 266 days. However, 70 percent of babies vary from 36-40 weeks (238 to
294 days).

Prenatal development proceeds according to a genetic blueprint that directs the

construction of an extremely complex being from what start out as only a single cell.
This development before birth called gestation take places in three stages: Germinal,
embryonic, and fetal.

Nearly all defects and three-quarters of all spontaneous abortions occur during
the critical first trimester of pregnancy.

Important dangers include improper maternal nutrition, drug intake by the mother,
and incompatibility of blood type with the mother’s blood type, medical x-rays, and
external environmental hazards. Hazards similar to some of these that affect the
father’s sperm can also harm the offspring.

a. Germinal stage (fertilization to two weeks). During this stage, the organism
divides becomes more complex and is implanted in the wall of the uterus. Within 36
hours after the fertilization, the single called zygote enters a period of rapid cell division.
Seventy-two hours after the fertilization, it has divided into 32 cells; a day later it has
divided into 70 cells. Cell division continues until the original cell has given way to an
estimated 800 billion or more cells that make up the adult human body.
While the fertilized ovum is dividing, it is also making its way down the fallopian tube
to the uterus, a journey that takes three or four days. By the time it gets there, its form
has changed into a fluid-filled sphere, a blastocyst, which then floats freely in the uterus
for a day or two. Some cells around the edge of the blastocyst cluster on one side to
form the embryonic disk, a thickened cell mass from which the baby will develop. This
mass is already differentiating into three layers. The upper layer, the ectoderm, will
eventually become the outer layer of the skin, the nails, the hair, the teeth, the sensory
organs, and the nervous system, including the brain and spinal cord.

The middle layer, the mesoderm will develop and differentiate into the inner layer
of the skin, muscles, skeleton, and bone marrow, heart and blood corpuscle, blood
vessels, kidneys and gonads.

The endoderm will develop the linings of nearly all of the internal organs,
including those of the lungs, trachea and pharynx, and digestive tract including the
pancreas and the liver.

Creation of the Zygote. Reproduction begins with the fertilization of a female’s

ovum by a male sperm.
 Ovulation occurs once every twenty-eight days or so, as an ovum out
hundred ova matures and the single ripe ovum burst 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 months. When an ovum is fertilized, the menstrual cycle ceases. The
first sign of pregnancy is amenorrhea or a cessation of menses. The first sign of
pregnancy menses is called menarche; the final 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 orchestrate 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 causes the zygote to divide repeatedly and generate new
cells and tissue of different types.

1. 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.

2. Cell differentiations continuous 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

Implantation or attachment of the zygote to the uterine wall.

Implantation starts on the sixth to the seventh day when the blastocyst start 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.

How developmental disabilities may happen in this stage?

1. Genetic disorder can be transmitted like genetic mutation, dominant and recessive
diseases.
2. Chromosomal aberration like Down Syndrome, Klinefelter syndrome and Turner
syndrome
3. Cranial or skull malformation like hydrocephaly or anencephay

b. The embryonic stage (two to). During the embryonic stage, the major body
systems (respiratory, alimentary, and nervous) and 8-12 weeks organs develop.
Because of the rapid growth and development in this stage, the embryo is most
vulnerable to prenatal environment influences. Almost all of the developmental birth
defects (cleft palate, incomplete or missing limbs, blindness, deafness) occur during the
critical first trimester (3-month period) of pregnancy. The most severely defective
embryos usually do not survive beyond this time and are aborted spontaneously (Garn,
as cited by Papalia, 1998). A spontaneous abortion or miscarriage is the expulsion from
the uterus of a conceptus (prenatal organism) that could not have survived outside the
womb.
Three main processes during this stage:

1. Intensification of cell differentiation. During implantation, the mass of cells form

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

The middle layer, the mesoderm will develop and differentiate into the inner layer
of the skin, muscles, skeleton, and bone marrow, heart and blood corpuscle, blood
vessels, kidneys and gonads.

The endoderm will develop the linings of nearly all of the internal organs,
including those of the lungs, trachea and pharynx, and digestive tract including the
pancreas and the liver.
 2. Development of the life support system. As the embryo’s three layers of cells
develop, the life support system develop from the embryo for the transfer of substances
from mother to the zygote and vice versa. Very small molecules of oxygen, water, salt
and food from 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.

3. Organogenesis is the process of organ formation and the appearance of body

organs during the first two months.

How developmental disabilities may happen in this stage?

1. Induced abortion in the case of unwanted pregnancy can disturb the normal process
of organogenesis.

2. Chromosomal aberration can cause spontaneous abortion

3. Ingestion of dermatogens or toxic agents like alcohol, drugs and nicotine, food
additives, stress, maternal nutrition and accidents can cause trauma and affect the
development that is taking place.

c. Fetal stage (8-12 weeks to birth). During the long period until birth, the
finishing touches are put on the various parts and the body changes in form and grow
about 20 times length.

The fetus kicks, turns, flexes its body, somersaults, squints, swallow, make fist,
hiccups, and sucks its thumb. Its responds to sound and vibrations, indicating that it can
hear and feel.

Source : https://courses.lumenlearning.com/psychology2x4master/chapter/stages-of-
development/
How developmental disabilities may happen in this stage?

1. Birth is one of the major hazards in fetal stage. Breech and other undesirable position
may cause trauma to the fetus like anoxia or asphyxia
2. Physical trauma or mechanical injury during birth may injure or damage the brain
and impair intellectual functioning.

Newborn Screening and its importance

In many countries, newborn screening has been a mechanism that protects

babies from health risks. In our country, the mles and regulations implementing the
Newborn Screening Act recommended the conditions to be included in the newborn
screening panel of disorders. According to the Philippine Pediatrics Society, the
advancement of newborn screening has succeeded in reducing morbidity and mortality
associated with certain congenital disorders as it allows timely medical intervention for
diagnosed patients. Affected children identified through newborn screening can lead
normal lives with the help of prompt and appropriate medical management.
(http://legacy.senate.gov.ph/lisdata/77686241!.pdf)

Recognizing .the importance of newborn screening, this bill expands the number
of disorders for which newborn infants in the country are required to be tested by law.
Specifically, this bill provides for the expansion of the prescribed list of disorders for
which testing is required under the implementing rules and regulations of R.A. 9288.
National Newborn Screening Society of the Philippines. Data retrieved at
http://www.pps.org.ph/policy statements/screening inborn errors.pdf on 11 March 2009

The purpose of newborn screening is to detect potentially fatal or disabling conditions in

newborns as early as possible, often before the infant displays any signs or symptoms of a
disease or condition. Such early detection allows treatment to begin immediately, which reduces
or even eliminates the effects of the condition. Many of the conditions detectable in newborn
screening, if left untreated, have serious symptoms and effects, such as lifelong nervous system
damage; intellectual, developmental, and physical disabilities; and even death.
(https://www.nichd.nih.gov/health/topics/newborn/conditioninfo/purpose)

Assessment:
1. How are mental retardation and other developmental disabilities are detected after
birth? 10 points

References: