1 - THE BIOLOGICAL AND ENVIRONMENTAL CAUSES OF characteristic.

Considering that there are as many as

DEVELOPMENTAL DISABILITIES 140,000 genes, the huge number of combinations possible is
hard to imagine. Traits that are produced by the mixing of
BASIC CONCEPTS OF HUMAN REPRODUCTION genes are said to be polygenically determined.
HEREDITY - the mechanism for the transmission of human
characteristics from one generation to the next Genotype
GENOME - Refers to the person's genetic heritage or the actual
 a complete set of coded instructions for making and genetic material
maintaining an organism - Established at conception during the process of fertilization
 inherited from both parents and usually remains constant and does not change
 the blueprint or book of human life
CHROMOSOMES Phenotype
 thread like structures located inside the nucleus of Some Principles of Genetic Determination - Refers to the person's observable traits that may be used
animal and plant cells Dominant-Recessive Genes Principle to draw inferences about the genotype.
 come in 23 pairs, each pair is composed of one - If one gene of the pair is dominant and one is recessive, - Phenotype is the observable result between the genotype
chromosome from the male (Y) and female (X) the dominant gene exerts its effect, overriding the potential and the environment
 The 23rd pair determines the sex of the organism influence of the recessive gene.
 Female will have a pair of XX while male will have XY - A recessive gene exerts its influence only of the genes of a
pair of chromosomes pair are both recessive
DNA (Deoxyribonucleic acid)
 long threadlike molecule and genetic substance
 a complex molecule that contains the genome
 has Double Helix
Double Helix
 two strands of the twisted ladder that wrapped around
each other BIOLOGICAL SOURCES OF DEVELOPMENTAL DISABILITIES
 consist of genetic code chemicals called nucleotide Basic Terms in Human Reproduction:
bases: Adenine, Thymine, Guanine, and Cytosine Gametes
GENES Sex-linked genes principle - are the human reproduction cells which are created in the
 specific sequence of the four nucleotide bases (A&T, - Category of genetic linkage that has to do with the X and Y reproductive organs
G&C) whose sequences carry the information for sex chromosomes. These not only carries the genes that - Ovum- egg cells; which the ovaries of the female produce
constructing proteins. determine male or female but other characteristics as well. Spermatozoa- sperm cells; which the testicles/testes of the
- When one X female chromosome combines with the X male produce
 Proteins provide the structural components of the cells,
male chromosome, the XX chromosome results that make Meiosis
tissues, enzymes for biochemical reactions
the organism a female. Meanwhile, when one female X - The process of cell division in which each pair of
 Act as blueprint for cells to reproduce and manufacture
chromosome combines with the Y male chromosome, the chromosomes in the cell separates, with one member of
proteins GENES that maintain life
XY chromosome results that make the organism a male. each pair going into each gamete or daughter cell.
Men normally have an X and a Y of sex chromosomes, while - Thus, each gamete, the ovum and the sperm, has twenty-
women have two X's. Men can only inherit Y chromosomes three unpaired chromosomes
Fertilization
Polygenic Inheritance Principle - The union of a human egg and sperm, usually occurring in
- Poly (many) genic (genes) inheritance describes the the ampulla of the uterine tube. The result of this union is
interaction of many genes to produce a particular
the production of a Zygote or fertilized egg, initiating - The zygote divides into two cells after thirty-six hours; four - of the pharynx, tongue, auditory tube, tonsils, thyroid,
prenatal development. cells after forty-eight hours. In three days, there is a small larynx, trachea, lungs, digestive tube, bladder, vagina and
Zygote compact ball of sixteen to thirty-two cells. In four days, a urethra
- Fertilization results in the formation of a single cell hollow ball has sixty-four to one hundred twenty-eight cells. 2. Development of the Life Support Systems
- In the zygote, two sets of twenty-three unpaired By approximately one week, the zygote has divided into 3. Organogenesis - The process of organ formation and the
chromosomes, one set each from the male and the female about one hundred fifty cells. appearance of body organs during the first two months
combine to form one set of paired chromosomes. In this  Cell Differentiation- continues as the inner and outer - What can go wrong during embryonic phase? Physical
manner, each parent contributes fifty percent or half of the layers of the organism are formed abnormalities can result (with extra o missing body parts),
zygote's genetic code or genome. - Blastocyst- inner layer of cells which develop into the Tail-like protrusion, heart or brain, digestive, respiratory
embryo later on organs outside the body
Critical Periods and Development Vulnerability During - Trophoblast- outer layer of the cells that provides nutrition
Pregnancy and support for the embryo What can go wrong during embryonic phase?
Vulnerability Significant Developments in the Germinal Period
- refers to how susceptible the organism is to being injured Implantation or attachment of the zygote to the uterine wall FETAL PHASE - The third phase covers seven months that
or altered by a traumatic incident - What can go wrong during the germinal phase? Genetic lasts from the third to ninth month of pregnancy on the
- A traumatic incident includes such broad occurrences as disorders can be transmitted average
teratogens or toxic agents  At 3 months, fetus is about 3 inches long and 1 ounce
Deviancy - from the normal course of prenatal development What can go wrong during germinal phase? weight
results to the occurrence of developmental disabilities 1. Dominant and Recessive Diseases  At 4 months, the fetus is 5 and 1/2 inches long and 4
2. Sex-linked inheritances ounces weight
COURSE OF PRENATAL DEVELOPMENT 3. Polygenic Inheritance – fancy term for those genetics  at 5 months, the fetus is 10 to 12 inches and weighs one
Germinal Phase - the initial phase of prenatal development traits that are controlled by more than 1 gene half to one pound or almost half kilo
covers first two weeks after fertilization 4. Chromosomal Deviations  at 6 months, the fetus is 14 inches long and gained one
5. Sex Chromosomal Anomalities half to one pound
Three Significant Developments:
1. Creation of Zygote Significant Developments in the Germinal Period New Born Screening
2. Continuous Cell Division and Cell Tissue Differentiation EMBRYONIC PHASE - The second phase of human Newborn Screening - Your Retarded Child Could Have Been
3. Implantation or attachment of the Zygote to the Uterine development occurs from the end of the germinal phase to Normal
Wall the second month of pregnancy. "Newborn Screening Act of 2004"
- The mass in now called embryo.  is an act promulgating a comprehensive policy and a
Creation of Zygote - reproduction begins with the The Three (3) Main Process During this Phase: national system for ensuring newborn screening"
fertilization of a female's ovum by a male sperm 1. Intensification of Cell Differentiation  This law institutionalized the National Newborn
 Ovulation- when a mature egg is released from the  Ectoderm - the outermost layer of cells that will develop Screening System
ovary and push down to fallopian tube and available to into the surface body parts, such as the outer skin or  This law ensures that: Every baby born in the Philippines
be fertilized. Every month an egg will mature the epidermis including the cutaneous glands is offered newborn screening
 Fertilization - take places when union of the genetic - the hair, nails and lens of the eye  This law ensures that: The establishment and
materials in the ovum and sperm cells.  Mesoderm - the middle layer that will develop into the integration of a sustainable newborn screening system
 Zygote - new cell results from the transmission of the body parts surrounding the internal areas within the public health delivery system
genetic materials 24 hours after fertilization - muscles, cartilage, bone, blood, bone ureter, gonads,  This law ensures that: That all health practitioners are
genital ducts, suprarenal cortex and the joint cavities. aware of the benefits of NBS and of their
Continuous Cell Division and Cell Tissue  Endoderm - the inner layer of cells that will develop into responsibilities in offering it
 Cell Division- occurs very rapidly in the first few days the epithelium
and progresses with considerable speed
 This law ensures that: That all parents are aware of NBS Gross Motor Skills
and their responsibility in protecting their child from
any of the disorders

What is Newborn Screening

 This is a simple test given 24 to 72 hours after birth
wherein a blood sample will be taken from the heel of
the child
 The blood sample is then dropped in a special paper
and will be sent in a centralized testing center in
National Institute of Health 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 those are undetected, those disorders may cause the Receptive Language
following: (Severe Mental Retardation, Cataracts, Dressing Skills
Severe Anemia Kernicterus, Death)

- If these disorders are diagnosed early enough, the child can

grow up as a normal healthy human being.
- Since the child will be immediately diagnosed, proper
treatment and care can be given to the baby to correct the
disorder

Principles of Normal Development in Infancy and Early

Childhood
The general principles of normal development are useful
guides in observing the presence of deviations in the Expressive Language Grooming Skills
developmental milestones in infancy and early childhood:
1. Normal development - progresses in orderly step-by-
step sequences
2. All areas of development are interrelate
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

DEVELOPMENTAL MILESTONES Eating Skills 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. Example of these are the following:
- 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