Chromosomal anomalies leading to

disabilities

Reporter: Mylyn V. Marasigan

Mary Grace Marin
Evren Managuit
Introduction
A chromosomal anomaly is a change to a child's genetic
material or DNA, which alters the baby's development
before birth. This can include extra, missing or irregular
chromosomes.A chromosomal abnormality occurs when
a child inherits too many or two few chromosomes. The
most common cause of chromosomal abnormalities is the
age of the mother. As the mother ages, the ovum is more
likely to suffer abnormalities due to longer term exposure
to environmental factors.
CONTENTS
01 Adrenoleukodysphy

02 Criduchat

03 Fetal alcohol syndrome

04 Marfan Syndrome

05 Trisomy 21
Adrenoleukodysphy
Adrenoleukodysphy
(uh-dree-noh-loo-koh-DIS-truh-fee)

WHAT IS IT?
Adrenoleukdystrophy is a hereditary genetic disorder that
results in the buildup of very long chain fatty acids through
out the body, mainly in the nervous system, the testes, and
adrenal glands
Adrenoleukodysphy

3 Types:

◦ Childhood Cerebral Type (affects children 4-8 yrs.)

◦ Adrenomyelopathy (affects men in their early 20s and
later in life)
◦ Impaired adrenal gland function (aka Addison Disease where
the adrenal gland does not produce enough steriod hormones)
Adrenoleukodysphy
Symptoms:
• Muscle loss, stiffness, weakness, and/or spasms-
• Strabismus (crossed eyes) and other visual impairment-
• Seizures- Decrease in verbal communication and cognitive
ability-
• Nervous System deterioration ( comatose, paralysis, lack of
motor control)-
• Difficulty controlling urine-
• Loss of appetite- Vomiting-
• Memory impairment- Adrenal dysfunction or crisis
Adrenoleukodysphy
Diagnosis:
• Can be diagnosed by testing blood levels, specifically for fatty
acid levels
• Study the chromosomes and check for mutations in the ABCD1
gene through genetic tests
• An MRI scan of the head, checks for damage to the white matter
of the brain
Adrenoleukodysphy
Causes:
• A hereditary disease, passed on from the parent to the
offspring
• An X-Linked genetic trait, so it affects mostly males
• Occurs from a mutation in the ABCD1 gene, which produces
instructions for making adrenoleukodystrophy protein
• Mutation results in a shortage of ALDP which leads to a buildup
of very long-chained fatty acids Gene ABCD1in the X
chromosome
Adrenoleukodysphy
Treatment:
• No universal cure
• Not all treatments work for each patient
• Eating a diet low in low in long chain fatty acids or taking
special oils, such as Lorenzo Oil, can prevent/delay the onset of
the disease
• Steroids can help treat adrenal dysfunction
• Bone marrow transplant is an experimental treatment that has
shown some success, but is still being tested Lorenzo Odone,
(1978-2008), adrenoleukodystrophy patient whose parents
developed Lorenzo Oil
Adrenoleukodysphy

Prognosis:
• It is a progressive disease so as time goes on, patients tend to
deteriorate faster both mentally and physically
• Specifically in the Childhood Cerebral Type, children tend to
lapse into a vegetative coma after living with the disease for
several years. Death usually occurs after several years of
comatose.
Cri-du-chat
Fetal alcohol
syndrome
Fetal alcohol syndrome

Fetal Alcohol Spectrum Disorders (FASD)

• Prenatal exposures to alcohol cause wide range of
disorders
• One of the most severe effects of drinking is Fetal Alcohol
Syndrome (FAS)
• it is a birth defect caused by drinking alcohol during
pregnancy • One of the most severe defects for a fetus •
Leading known preventable cause of mental
retardation/other birth defects
Fetal alcohol syndrome

Fetal Alcohol Spectrum Disorders (FASD)

• Prenatal exposures to alcohol cause wide range of
disorders
• One of the most severe effects of drinking is Fetal
Alcohol Syndrome (FAS)
• it is a birth defect caused by drinking alcohol during
pregnancy
• One of the most severe defects for a fetus
• Leading known preventable cause of mental
retardation/other birth defects
HOW DOES IT OCCUR?
SIGN AND SYMPTOMS
Growth Deficiency Characteristics
• Small size for gestational age or small stature in
relation to peers
• Small head or facial/dental anomalies
• Heart defects or other organ dysfunction
• Deformities of joints, limbs, and fingers
• Vision or hearing problems.
Central Nervous System Characteristics
• Poor coordination
• Hyperactive behavior
• Learning disabilities
• Developmental disabilities (for example, speech
and language delays)
• Mental retardation or low IQ
• Problems with daily living
• Poor reasoning and judgment skills
• Sleep and sucking disturbances in infancy.
PREVENTION
• The only certain way to prevent FAS is to simply
avoid drinking alcohol during pregnancy

TREATMENT
• Medical Care
• Medication
• Behavior and Education Therapy
• Parent
MEDICATIONS
• No medications have been approved specifically to treat
FASDs. But, several medications can help improve some of
the symptoms of FASDs.
• Stimulants Hyperactivity, problems paying attention, and
poor impulse control, as well as other behavior issues.
• Antidepressants sad mood, loss of interest, sleep problems,
school disruption, negativity, irritability, aggression, and
anti-social behaviors.
• Neuroleptics aggression, anxiety, and certain other
behavior problems.
• Anti-anxiety drugs symptoms of anxiety.
BEHAVIOUR AND EDUCATION THERAPY
• Friendship training
• Specialized math tutoring Executive functioning training
• Parent-child interaction therapy Parenting and behavior
management training,
PARENT TRAINING
• Concentrate on your child's strengths and talents
• Accept your child's limitations
• Be consistent with everything (discipline, school, behaviors)
• Use concrete language and examples
• Use stable routines that do not change daily
• Keep it simple
• Be specific-say exactly what you mean
• Structure your child's world to provide a foundation for daily living
• Use visual aides, music, and hands-on activities to help your child learn
• Use positive reinforcement often (praise, incentives)
• Supervise: friends, visits, routines
• Repeat, repeat, repeat
 Marfan
Syndrome
Most people who have Marfan syndrome
inherit it from their parents. About 1 out of
every 5,000 people in the United States has
Marfan syndrome. Men, women, children,
and people of all races can have the
condition.
What Causes Marfan Syndrome?
• genetic disorder.
• A mutation, or change, in the gene that controls how the body makes
fibrillin. -
• Sometimes Marfan syndrome isn't inherited.
5. Signs and Symptoms Marfan syndrome often affects the long bones of
the body.This can lead to signs, or traits, such as: 1- A tall, thin build. 2-
Long arms, legs, fingers, and toes and flexible joints. 3- A spine that curves
to one side.This condition is called scoliosis. 4- A chest that sinks in or
sticks out.These conditions are called pectus excavatum and pectus
carinatum, respectively. 5-Teeth that are too crowded. 6- Flat feet.
5 Signs and Symptoms
Marfan syndrome often affects the long bones of the
body.This can lead to signs, or traits, such as:

1- A tall, thin build.

2- Long arms, legs, fingers, and toes and flexible joints.
3- A spine that curves to one side.This condition is called
scoliosis. 
4- A chest that sinks in or sticks out.These conditions are called
pectus excavatum and pectus carinatum, respectively. 
5-Teeth that are too crowded. 6- Flat feet.
Complications of Marfan Syndrome
1 - Heart and BloodVesselComplications. - can affect the aorta
and cause stretch and grow weak This condition is called aortic
dilation or aortic aneurysm. - mitral valve prolapsed (MVP).
MVP can cause shortness of breath, palpitations , chest pain,
and murmur.
2- Eye Complications - A common problem is a dislocated lens
in one or both of the eyes. In this condition, the lens shifts up,
down, or to the side.This can affect your eyesight. - Other eye
complications include nearsightedness, early glaucoma, early
cataracts and detached retina also can occur.
Complications of Marfan Syndrome
3- Nervous System Complications - Fluid surrounds the brain
and spinal cord. the dura can stretch and grow weak also bones
of the spine may wear away.These condition called dural
ectasia.Symptoms of this condition are lower back pain,
abdominal pain, headache, and numbness in the legs.
4- Lung Complications - can cause sudden pneumothorax or
collapsed lung are sudden pain in one side of the lung and
shortness of breath. - emphysema can occur and also sleep
apnea.
Marfan Syndrome Diagnosed
1-Medical and Family Histories doctor will ask about medical
history of patient and family's medical history.
2- Physical Exam check the curve of your spine and the shape
of feet. doctor also will listen to your heart and lungs with a
stethoscope.
3- Echocardiography
4- MRI and CT scan
5- Slit-Lamp Exam can find out whether you have a dislocated
lens, cataracts, or a detached retina.
6- GeneticTesting
Treatments
1- HeartTreatments include: - Medical : Beta blockers that help
heart beat slower ,relieve strain and slow the rate of aortic
dilation. - Surgical: Doctor may recommend surgery to repair
or replace part of aorta and mitral valve.
2- EyeTreatments Glasses or contact lenses can help with some
of these problems. Sometimes surgery is needed.
3- Nervous SystemTreatments Dural ectasia usually is treated
with pain medications 4- LungTreatments Chest tube use to
treat pneumothorax ( remove the air in chest cavity).
Sometimes surgery is needed.
Trisomy 21
What is Down Syndrome
DS is a naturally occurring chromosomal
arrangement that has always been a part of the
human condition, being universally present across
racial, gender or socioeconomic lines, and affecting
approximately 1 in 800 live births, although there is
considerable variation worldwide.
What is Down Syndrome
DS is a naturally occurring chromosomal arrangement that has
always been a part of the human condition, being universally
present across racial, gender or socioeconomic lines, and affecting
approximately 1 in 800 live births, although there is considerable
variation worldwide.
Down syndrome (DS) or Down's syndrome, also known as trisomy
21, is a genetic disorder caused by the presence of all or part of a
third copy of chromosome 21 • Down syndrome is the most
common chromosome abnormality in insan or human beings
What is Down Syndrome
The physical features and medical problems associated with Down
syndrome can vary widely from child to child. • While some kids
with DS need a lot of medical attention, others lead healthy lives.
It is typically associated with a delay in cognitive ability (mental
retardation) and physical growth, and a particular set of facial
characteristics • Cognition is a group of mental processes that
includes attention, memory, producing and understanding
language, learning, reasoning, problem solving, and decision
making
Individuals with Down syndrome may have some or all of
the following physical characteristics:
• microgenia (abnormally small chin)
• oblique eye fissures on the inner corner of the eyes
• muscle hypotonia (poor muscle tone)
• a flat nasal bridge
• a single palmar fold
• a protruding tongue (due to small oral cavity, and an enlarged
tongue near the tonsils) or macroglossia
• face is flat and broad
• a short neck,
• white spots on the iris known as Brushfield spots • excessive joint
laxity including atlanto- axial instability • excessive space between
large toe and second toe
Individuals with Down syndrome may have some or all of
the following physical characteristics:

• excessive space between large toe and second toe

• a single flexion furrow of the fifth finger,
• a higher number of ulnar loop dermatoglyphs
• short fingers
• Growth parameters such as height, weight, and head
circumference are smaller in children with DS than with typical
individuals of the same age
Individuals with Down syndrome may have some or all of
the following physical characteristics:

• Adults with DS tend to have short stature and bowed legs

• average height for men is 5 feet 1 inch (154 cm) and for women is
4 feet 9 inches (144 cm)
• Individuals with DS are also at increased risk for obesity as they
age
What causes it DS
• Normally, at the time of conception a baby inherits genetic
information from its parents in the form of 46 chromosomes:
• 23 from the mother and 23 from the father.
• In most cases of Down syndrome, a child gets an extra
chromosome 21 — for a total of 47 chromosomes instead of 46. •
It's this extra genetic material that causes the physical features and
developmental delays associated with DS.
Down syndrome can't be prevented, it can be
detected before a child is born. • The health
problems that may go along with DS can be
treated, and many resources are available to
help kids and their families who are living
with the condition.
REHABILITATION
• PHYSICAL THERAPY 
• OCCUPATIONAL THERAPY 
• SPEECH THERAPY

TREATMENT
There is no cure for Down syndrome, but treatment is available to
help your child. Your child may need physical, occupational, and
speech therapy to help with their development. Many children are
helped with early intervention and special education.
REHABILITATION
• PHYSICAL THERAPY 
• OCCUPATIONAL THERAPY 
• SPEECH THERAPY
THANK YOU