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