NCM 109: MODULE 1

Genome Severe Disability - Biologic

- The sequencing of the human genome opened a Genetic

new window in our understanding of human traits, • Inborn errors of metabolism
skills, and disabilities (Galactosemia, Tay-Sachs disease,
- The human genome is the full set of DNA phenylketonuria)
instructions that creates the characteristics of • Hereditary syndromes
a human. (Musculardystrophy, tuberous sclerosis,
-Each cells contains 46 chromosomes (44 neurofibromatosis)
autosomes and 2 sex chromosomes).
• Chromosomal alterations
-A person’s genome is the complete set of genes (Down syndrome, fragile X syndrome
present (about 50,000 to 100,000). [leading cause of intellectual impairment])
-A normal genome is abbreviated as 46XX or Acquired Childhood Conditions or Diseases
46XY (the designation of the total number.
• Meningitis, encephalitis, pertussis,
varicella or other complications from
CAUSE OF INTELLECTUAL DISABILITY infection

Mild Disability – Environmental • Lead of other poisoning

Alterations Occurring During Pregnancy • Neurologic insult (e.g., trauma

hydrocephalus, tumors)
• Intrauterine infections: Congenital
rubella, toxoplasmosis, herpes, HIV • Conditions impairing cardiac or
respiratory function (cardiorespiratory
• Exposure to environmental toxins: Fetal
arrest, asphyxiation)
alcohol spectrum disorder, drug exposure

• Intrauterine growth restriction Psychosocial Problems

Neonatal Alteration • Psychosocial deprivation

• Prematurity/very low birth weight • Poverty and inadequate healthcare

• Perinatal insult or injury • Parental neurosis, psychosis, character

disorder
• Other conditions present at birth:
•Childhood psychosis, autism, other
Hyperbilirubinemia, hypoglycemia, central
pervasive developmental disorder
nervous system (CNS) hemorrhage, ABO
incompatibilities
PROBLEMS RELATED TO INTELLECTUAL
DISABILITY Clinical Features:
Mild o Life expectancy: 60 years (National
o Self-esteem issues related to the Down Syndrome Society)
presence or absence of physical Physical Appearances:
features, largely determined by the
cause of the intellectual disability o Flat facial profile and an upward slant
o Social isolation and loneliness of the eye
o Depression o Short neck
o Abnormally shaped ears
Severe o White spots on the iris of the eye
o Self-injury (called Brush field spots)
o Fecal smearing o Single, deep transverse crease on the
o Tearing or personal clothes and palm of the hand.
objects Fragile X Syndrome
o Severe temper tantrums
o Disrobing o Fragile X syndrome is caused by an
underlying single gene defect on the X
chromosome.
DISORDERS RESULTING IN o The genetic defect involves excessive
INTELLECTUAL OR repetitions of the nucleotide cytosine-
DEVELOPMENTAL DISABILITY guanine guanine (CGG) deoxyribonucleic
acid (DNA) sequence.

Fetal Alcohol Spectrum Disorder

Disorders That Result:
o Alcohol and its metabolite
o Disorder of intellectual impairment: (acetaldehyde) cross the placenta
Down syndrome rapidly; therefore, the fetus has blood
o Disorder of known genetic cause: levels of alcohol equivalent to the
Fragile X syndrome and Rett syndrome maternal levels.
o Disorders related to environmental o This effect can result in fewer brain
alterations: Fetal alcohol syndrome, non- cells, diminished intelligence, and brain
organic failure to thrive malformation.
o Disorders with little understood genetic
influence: autism spectrum disorders Autism Spectrum Disorders

o Autism spectrum disorders (ASDs), as

a significant part of the pervasive
Down Syndrome developmental disorders, range in
-Trisomy 21, or Down Syndrome, occurs when severity from severe (autism disorder)
three representative of chromosomes 21 are to a milder form (Asperger syndrome).
present instead of the usual two.
GENETIC COUNSELING NEW BORN SCREENING
o Genetic counselors provide services to o is usually done at 48th to 72nd hour
help people understand specific of life. It may also be done 24 hours
genetic disorders and the risk of from birth, but some disorders are
occurrence in their family. not detected if the test is done
o Focus on the family rather than on an earlier than 24 hours.
individual. o Newborn screening (NBS) is an
essential public health strategy that
enables the early detection and
DIAGNOSTIC METHODS management of several congenital
disorders, which if left untreated, may
Preconception Screening lead to mental retardation and/or
o Family history to identify hereditary death.
patterns of disease or birth defects o Republic Act 9288, otherwise known
o Examination of family photograph as the Newborn Screening Act of
o Physical examination for obvious or 2004, illustrates a procedure to
subtle signs of birth defects detect a genetic and metabolic
o Cancer testing disorder in newborns that may lead to
o People from ethnic group with a higher mental retardation and even death if
risk of some disorders left untreated.
o People with family history and that
carry a gene for specific disorder. THE FIVE METABOLIC DISORDERS
o Chromosome analysis IDENTIFIED BY NEWBORN SCREENING:
o Deoxyribonucleic acid (DNA) analysis
1. Congenital Hypothyroidism (CH)
Prenatal Diagnosis for Fetal Abnormalities
o previously known as Cretinism, is a severe
o Maternal test to screen for
deficiency of the thyroid hormone in
abnormalities newborns.
o Chorionic villus sampling o causes impaired neurological function,
o Amniocentesis severe mental retardation, stunt growth
o Ultrasonography and physical deformities if not treated.
o Percutaneous umbilical blood sampling
Tx: Hormones
Tests:
2. Congenital Adrenal Hyperplasia (CAH)
o MATERNAL SERUM TEST
o CHORIONIC VILLUS SAMPLING o characterized by adrenal insufficiency
o AMNIOCENTESIS which may be life threatening. The
o PERCUTANEOUS UMBILICAL CORD adrenal glands produce important
SAMPLING hormones, including Cortisol, which
regulates the body’s response to illness
or stress.
 o causes death if not treated. mother eats or drinks, or certain medications she
uses during pregnancy.
Tx: Hormones

3. Galactosemia (GAL)

o a condition in which the body is unable to

use(metabolize) the simple sugar Cleft Lip
galactose.
o The lip forms between the fourth and
o causes cataracts and death if not treated.
seventh weeks of pregnancy.
Tx: Diet restrictions o This results in an opening in the upper lip.
The opening in the lip can be a small slit or
4. Phenylketonuria (PKU)
is large opening that goes through the lip
o Is an inherited disorder that causes an into the nose.
amino acid called phenylalanine to build up o Children with a cleft lip also can have a
in the blood. It is caused by a defect in cleft palate.
the gene that helps create the enzyme
needed to break down phenylalanine.
o causes severe mental retardation if not Cleft Palate
treated.
o The roof of the mouth (palate) is formed
Tx: Diet restrictions between the sixth and ninth weeks of
pregnancy.
5. G6PD Deficiency
o A cleft palate happens if the tissue that
o When the body does not have enough makes up the roof of the mouth does not
enzymes called glucose-6-phosphate join together completely during pregnancy.
dehydrogenase. o The causes of orofacial clefts among most
o G6PD helps red blood cells work. it also infants are unknown and maybe because of
protects them from substances in the changes in their genes.
blood that could harm them.
o causes severe anemia, kernicterus (a type
TREATMENT FOR A NEWBORN WITH
of brain damage that can result from high
CLEFT LIP AND PALATE INCLUDES:
levels of bilirubin in the baby’s blood).

Tx: Avoidance of triggering factors.

Cleft lip

o repair within the first several months of

INFANT WITH BIRTH DEFECTS life
o plastic surgeon
Cleft Lip and Cleft Palate
Cleft palate
Cleft lip and cleft palate are thought to
be caused by a combination of genes and other -repairs are usually done between the ages of 6
factors, such as things the mother comes in to 18 months.
contact within her environment, or what the
-This is a more complicated surgery, and it is o Hereditary influences on development
done when the baby is bigger and better able to results from the directions for cellular
tolerate the surgery. functions provided by genes located on
the 46 chromosomes in every somatic
-To repair a cleft palate, a plastic surgeon uses
cell.
tissue from either side of the mouth to fill in the
o The disorder that result may be merely
gap.
annoying or they may be devastating.
Spina Bifida
o It is a congenital abnormality with
developmental defect in the spinal column
o Spina bifida is a birth defect that occurs DNA - is the basic building block of genes and
when the spine and spinal cord don't form chromosomes. It has three units:
properly. It's a type of neural tube
1. A sugar (deoxyribose)
defect.
o Typically, the neural tube forms early in 2. A phosphate group
pregnancy and it closes by the 28th day
3. One of four nitrogen bases
after conception.
(adenine, thymine, guanine, and cytosine)

TYPES OF SPINA BIFIDA GENES - is a segment of DNA that directs the

Meningocele production of a specific product needed for body
structure or function.
o This rare type of spina bifida happens the
when the meninges (membrane surrounding
the spinal cord) protrude through the CHROMOSOMES
opening causing a lump or sac on the back.
o genes are organized into 46
chromosomes in the nuclei of most
Myelomeningocele somatic cells (non-sex
chromosomes)
o Myelomeningocele is the most severe form o Twenty-two chromosomes’ pairs
of spina bifida. are autosomes (non-sex
o For infants born with a myelomeningocele, chromosomes)
A sac containing cerebrospinal fluid and o Allosomes (sex hormones) -The
blood vessels surrounds the protruding 23rd pair - is the sex
cord, which is usually not covered by skin chromosomes (XX in females, XY in
so that the nerves and tissues are males)
exposed. o Added or missing chromosomes or
structurally abnormal
chromosomes are usually harmful.
HEREDITARY INFLUENCES
Cystic Fibrosis Cystic Fibrosis (CF)
o is a inherited disorder that
primary affects the lungs and the
digestive system.
o Cystic fibrosis affects the cells
that produce mucus, sweat and
digestive juices. These secreted
fluids are normally thin and
slippery.