JOHN PETER LOVINGSKI R.
ESPORLAS - Most others have normal chromosomal
DOWN SYNDROME (TRISOMY 21) or
MONGOLISM
- Most common chromosomal
abnormality.
- It is characterized by the following
a. Hypertonia
b. Cognitive Delay / Mental Retardation
c. Dysmorphic Facial Features
d. Other Distinctive Physical
Abnormalities.
- It has 2 causes: Non-disjunction and
Anaphase Lag
- Failure to split in chromosome
ANEUPLODY
- Abnormality in chromosomal number
EPIDEMIOLOGY
Predominance in white people
Most commonly inherited in 1 out of
700 livebirths
< 20 years old for 1 in 1550 live births
(children)
>45 years old for 1 in 25 livebirths.
- Most common cause of Down
Syndrome
a. 95% Non-Disjunction
b. 4% Robertsonian Translocation
c. 1% Mosaic
- Median age of death is 47 years old
- There is a 2% chance of recurrence for
couples who had a child with Downs
Syndrome.
- *TURNER SYNDROME: Oocyte
deteriation (no mature egg cell)
ETIOLOGY
- Chromosomal abnormality
- 95% Maternal Age and 5% Paternal
Age
- Karyotype: It should be 46
chromosomes but it becomes 47
- Mosaicism: 46 & 47 chromosomes
a. TRANSLOCATION
- It is where portion of chromosomes
are re-arranged.
b. ROBERTSONIAN TRANSLOCATION
- One arm of Chromosome 21 attaches
to the other
number but the extra chromosomal
material is present as a translocation.
EFFECTS OF DOWN SYNDROME
1. ABNORMAL GROWTH FACTORS
- Beta-amyloid found in the brain may
also play a role in neuronal injury via
calcium toxicity and may have a role
in initiating gliosis (reactive change of
glial cells)
a. OVEREXPRESSION OF GENES
- Increased in Beta-Amyloid will result to
calcium toxicity and then it will
increase inflammatory mediators.
Gliosis (Cell & Brain Death) will lead to
brain injury and then increase
abnormal growth, Hippocampus,
Amygdala and Motor Neurons will be
affected which can lead to Alzheimers
Disease.
- Reduction in weight of the brain.
2. FREE RADICALS
- Superoxide Dismutase (An input of
Free Radical Defense)
- Imbalance: Presence of Free Radicals
in the brain.
- It may lead to Alzheimer.
- Responsible for the cause of
alzheimers
a. Beta-Amyloid
b. Superoxide Dismutase
3. ALZHEIMER DISEASE
- Pre-mature
- 40 years old: At this age, symptoms of
Alzheimer Disease can be seen in
Down Syndrome
- Result from High Production of Beta-
Amyloid (can cause dementia)
PATIENTS WITH DOWN SYNDROME
- Children are 10-20 times at risk for
leukemia
- 50% Chance of Coronary Heart
Disease
- Common Cause of Death:
Congenital Heart Disease.
PATHOPHYSIOLOGY
1. NON-DISJUNCTION
- Failure to separate.
 2. ROBERTSONIAN TRANSLOCATION Sensory impairment
- Exchange of materials with single Hearing loss
breaks of 2 non-homologous either Visual impairments
balanced (non-fusion_ or non-balanced a. Strabismus
(Robertsonian-fusion) b. Myopia
- Problem: Short Arm of Chromosome c. Nystagmus
21 d. Cataracts
- MENTAL RETARDATION IS NOT ALWAYS e. Conjunctivitis
ASSOCIATED WITH TRISOMY 21 Acute lymphoblastic and myeloid
leukemia (0.3%)
Obesity
SIGNS AND SYMPTOMS Delayed growth and sexual
development
MOST FREQUENTLY SEEN Diabetes mellitus
Hirschsprung Disease
Flattened nasal bridge
Epicanthic folds MEDICAL DIAGNOSIS
Flat facial profile
Almond eye shape 1. FETAL ULTRASOUND TESTING
Muscle hypotonia and joint 2. SERUM SCREENING
hyperextensibility 3. CHROMOSOME ANALYSIS
Congenital heart disease(40%) 4. POST NATAL CHROMOSOMAL
Oblique palpebral fissures KARYOTYPE ANALYSIS
Short limbs and short broad hands and 5. ECHOCARDIOGRAM
feet PT MANAGEMENT
High arched palate
Language and cognitive delay 1. DEVELOP THE FF:
Simian line a. Strength
b. Developmental skills
Delayed acquisition of gross motor
c. Balance and coordination
skills
d. Physical fitness
MOST COMMON TYPE OF SUBLUXATION:
2. PLASTIC SURGERY
Atlanto-Axial Dislocation
3. ATTAIN DEVELOPMENTAL
PRESENCE OF WHITE SPOTS IN THE
MILESTONES
RETINA: Brush Field Spot
ASSOCIATED ASSOCIATIONS CONTRAINDICATION: Activities that could
Abnormal immune responses that result in direct downward, traction or
predispose them to serious infections translational force on cervical area because
such as ear infection and respiratory of atlantoaxial instability.
infection.
Absence of kidney
Duodenal atresia
Tracheosophageal fistula
Feeding difficulties
Atlantoaxial instability