THE BIOLOGICAL AND

ENVIRONMENTAL CAUSES OF
DEVELOPMENTAL DISABILITIES

Lecture Presentation By:

PROF. ADELYN S. NALLA, LPT, MAED-ECE (CAR)
INSTRUCTOR
INTRODUCTION
This chapter starts with a review of the basic concepts of
human reproduction and 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.
OBJECTIVES:
1. Define the following terms: heredity, genome, chromosomes,
deoxyribonucliec 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;
 THE BASIC CONCEPTS OF HUMAN
REPRODUCTION
➢ Heredity- is the mechanism for the transmission of human
characteristics from one generation to the next.
➢Genome- each person carries this genetic code. It is a complete
set of coded instructions for making and maintaining an
organism. It is also described as the blueprint or book of human
life.
➢Chromosome- is a complete set of the body’s genome that is
twisted into forty-six packets of thread-like microscopic
structures.
➢Chromosomes come in twenty-three pairs. Each pair is
composed of one chromosome from the male (Y) and
female (X) parents.
➢Each set has twenty-two single chromosomes called
autosomes that carry the physical, mental and
personality characteristics.
➢The twenty-third pair, the XY chromosomes,
determines the sex of the organism. (XX) female, (XY)
male.
Human Male Karyotype
This karyotype of a human male shows the 23 pairs of chromosomes that are typically present in human
cells. The chromosome pairs labeled 1 through 22 are called autosomes, and have a similar appearance
in males and females. The 23rd pair, shown on the bottom right, represents the sex chromosomes.
Females have two identical-looking sex chromosomes that are both labeled X, whereas males have a
single X chromosome and a smaller chromosome labeledY.
Down Syndrome
Down syndrome is often called Trisomy 21 because most people with this condition have three
copies of the number 21 chromosome—one of the smallest of the human autosomes. In this
karyotype, the sex chromosomes—marked with letters instead of numbers—are XX rather than XY,
showing that these chromosomes belong to a female. Down syndrome almost always results in
mental retardation, though the severity of the retardation varies.
Klinefelter’s Syndrome
This karyotype is indicative of Klinefelter’s syndrome because it has three sex
chromosomes—a single Y chromosome and two X chromosomes—instead of the usual
two. People with Klinefelter’s syndrome are always male. They are typically tall, and
they may have slight breast development and small testes.
➢ Deoxyribonucleic Acid or DNA- is the long threadlike molecule
and genetic substance inside the chromosome.
➢It consists of two strands of twisted ladder-shaped structure called
the double-helix that wrap around each other.
 SOME PRINCIPLES OF GENETIC
DETERMINATION
1. 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.
-a recessive gene exerts its influence only if the
genes of a pair are both recessive.
2. Sex-linked genes principle
- XX chromosome = female organism and XY
chromosome= male organism
3. Polygenic inheritance principle
-poly (many) genic ( genes) inheritance
describes the interaction of many genes to produce
a particular characteristic.
• An example of polygenic inheritance is human skin color.
Genes for skin color are located in many places, and skin
color is determined by which genes are present at these
multiple locations. A person with many genes for dark skin will
have very dark skin color, and a person with multiple genes
for light skin will have very light skin color. Many people have
some genes for light skin and some for dark skin, which
explains why so many variations of skin color exist. Height is
another characteristic probably reflecting polygenic
characteristics.
 THE BIOLOGICAL SOURCES OF DEVELOPMENTAL
DISABILITIES

The course of Prenatal Development

1.The Germinal Phase
- Creation of the zygote
- Continuous cell division/cell tissue differentiation
- Implantation or attachment of the zygote to the
uterine wall
 WHAT CAN GO WRONG DURING THE
GERMINAL PHASE?
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. Other sex chromosomal anomalies like Klinefelter Syndrome, Turner
Syndrome; and
5. Cranial or skull malformations such as anencephaly or absence of major
portions of the brains, microcephaly and hydrocephaly.
• Tay Sachs disease
- Tay-Sachs Disease (TSD), rare
genetic disorder of the central nervous
system that leads to progressive brain
deterioration and death. Babies born with
TSD appear to develop normally for about
six months but then develop signs of rapid
deterioration of physical and mental
functions that lead to blindness, seizures,
mental retardation, inability to swallow,
respiratory problems, and paralysis. There
is no cure for TSD—even with the best of
care, children with the disease die in early
childhood, usually by the age of five.
• Galactosemia
- excess of milk-sugar constituent: a
genetic disorder causing the absence of an
enzyme necessary for the breakdown of
galactose in milk to glucose.

• Phenylketonuria (PKU)
- rare hereditary disease in newborns in
which the enzyme that processes the amino
acid phenylalanine is defective or missing,
leading to the accumulation of phenylalanine in
an affected child’s blood shortly after birth. If
not treated within the first few weeks of life,
PKU can cause mental retardation and other
serious neurological problems.
• Lesch Nyhan Syndrome
- serious genetic disease: a rare recessive enzyme-deficiency
disorder of male children resulting in overproduction of uric acid. It
causes early cerebral palsy, developmental disorders, gout,
twitching body movements, and compulsive self-mutilation by
biting.
• Fragile X Syndrome
- genetic condition causing learning difficulty: a genetic
condition, caused by a damaged X chromosome with an apparently
almost detached part near the end of the long arm, that causes
learning difficulties in boys and men.
• Klinefelter’s Syndrome
- This karyotype is indicative of Klinefelter’s syndrome because
it has three sex chromosomes—a single Y chromosome and two X
chromosomes—instead of the usual two. People with Klinefelter’s
syndrome are always male. They are typically tall, and they may have
slight breast development and small testes.
• Turner Syndrome
- genetic disease affecting women: a genetic disorder
affecting women in which only one X chromosome per cell is present,
instead of two, resulting in underdeveloped ovaries and
underdevelopment of the womb, vagina, and breasts.
2. The Embryonic Phase
• Intensification of cell diffentiation
- ectoderm (outer layer)
-mesoderm (middle layer)
- endoderm (inner layer)
• Development of the life support systems
- placenta
- umbilical cord
- amnion or amniotic fluid
• Organogenesis- is the process of organ formation and the appearance of body
organs during the first two months.
 WHAT CAN GO WRONG DURING THE
EMBRYONIC PHASE?
• 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.
3. The Fetal Phase

- the third phase covers seven

months that lasts from third to
the ninth month of pregnancy on
the average.
 WHAT CAN GO WRONG DURING THE
FETAL PHASE?
• 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 development risks.
4. Birth of an 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.
 WHAT CAN GO WRONG DURING THE BIRTH
PROCESS?
1. Physical trauma or mechanical injury during birth may injure or
damage the brain and impair intellectual functioning.
• Precipitous birth- labor is short (less than two hours) skull molding
that should be slow and smooth may affect and injure the brain.
• Breech birth- 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.
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 depends entirely on the umbilical cord as
a source of oxygen until birth is completed.