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JOHN PETER LOVINGSKI R.

ESPORLAS - Most others have normal chromosomal


number but the extra chromosomal
DOWN SYNDROME (TRISOMY 21) or
material is present as a translocation.
MONGOLISM
- Most common chromosomal
abnormality. EFFECTS OF DOWN SYNDROME
- It is characterized by the following
a. Hypertonia 1. ABNORMAL GROWTH FACTORS
b. Cognitive Delay / Mental Retardation - Beta-amyloid found in the brain may
c. Dysmorphic Facial Features also play a role in neuronal injury via
d. Other Distinctive Physical calcium toxicity and may have a role
Abnormalities. in initiating gliosis (reactive change of
- It has 2 causes: Non-disjunction and glial cells)
Anaphase Lag a. OVEREXPRESSION OF GENES
- Failure to split in chromosome - Increased in Beta-Amyloid will result to
calcium toxicity and then it will
ANEUPLODY increase inflammatory mediators.
- Abnormality in chromosomal number Gliosis (Cell & Brain Death) will lead to
brain injury and then increase
EPIDEMIOLOGY abnormal growth, Hippocampus,
Amygdala and Motor Neurons will be
Predominance in white people
affected which can lead to Alzheimers
Most commonly inherited in 1 out of
Disease.
700 livebirths - Reduction in weight of the brain.
< 20 years old for 1 in 1550 live births 2. FREE RADICALS
(children) - Superoxide Dismutase (An input of
>45 years old for 1 in 25 livebirths. Free Radical Defense)
- Most common cause of Down - Imbalance: Presence of Free Radicals
Syndrome in the brain.
a. 95% Non-Disjunction - It may lead to Alzheimer.
b. 4% Robertsonian Translocation - Responsible for the cause of
c. 1% Mosaic alzheimers
- Median age of death is 47 years old a. Beta-Amyloid
- There is a 2% chance of recurrence for b. Superoxide Dismutase
couples who had a child with Downs 3. ALZHEIMER DISEASE
Syndrome. - Pre-mature
- *TURNER SYNDROME: Oocyte - 40 years old: At this age, symptoms of
deteriation (no mature egg cell) Alzheimer Disease can be seen in
Down Syndrome
ETIOLOGY
- Result from High Production of Beta-
- Chromosomal abnormality Amyloid (can cause dementia)
- 95% Maternal Age and 5% Paternal
PATIENTS WITH DOWN SYNDROME
Age
- Karyotype: It should be 46 - Children are 10-20 times at risk for
chromosomes but it becomes 47 leukemia
- Mosaicism: 46 & 47 chromosomes - 50% Chance of Coronary Heart
a. TRANSLOCATION Disease
- It is where portion of chromosomes - Common Cause of Death:
are re-arranged. Congenital Heart Disease.
b. ROBERTSONIAN TRANSLOCATION
- One arm of Chromosome 21 attaches PATHOPHYSIOLOGY
to the other
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