Signs and symptoms are relative to the size of the defect
Symptoms are not usually seen at birth
General manifestation: Shortness of breath during feeding, Poor growth, Failure to gain weight, Pounding heart, Frequent respiratory tract infections, If reversal of shun occurs - cyanosis, clubbing, respiratory distress
Patent Ductus Arteriosis (PDA)
Failure of closure of ductus arteriosus
Oxygenated blood passes from the aorta to the pulmonary artery and mixes with deoxygenated blood which goes to the lungs
Characterized by increased blood vlume to the lungs and pulmonary hypertension and congestion
Patent Ductus Arteriosus
Shortness of breath, Congested breathing, Disinterest in feeding, Poor weight gain, Sweating, Tachypnea, Pounding puls
Atrioventricular Septal Defects
Signs and symptoms include lung congestion, pulmonary hypertension, increased work of breathing, and feeding intolerance
Coarctation of Aorta
Symptoms in older children may include headache, leg cramps, and a pale appearance. Blood pressure differs from upper extremities (high) to lower extremities (low).
AorticStenosis
Signs and symptoms may include fatigue, murmur, chest pain, fainting, or arrhythmia
Pulmonary Stenosis
Signs and symptoms may include respiratory distress, fatigue, murmur, or chest pain
Tetralogy of Fallot (TOF)
A complex condition of several congenital defects that occur due to abnormal development of the fetal heart during the first 8 weeks of pregnancy
Immunulogic hyposensitization (Minute doses of exposure leading to development of antibodies)
Physical therapy considerations
Exercise-induced component of asthma - six minutes of exercise maintaining a heart rate of 170 bpm, a sudden drop in airway function occurs about 5-6 minutes after execise cessation - this is similar to an asthma attack
Cystic fibrosis is the most common lethal genetic disorder of the white race
Occurrence of cystic fibrosis is 1/2000 white children, carrier rate of 5%
Pathophysiology of cystic fibrosis
Mendelian recessive pattern
Mutation in the CF transmembrane conductance regulator (CFTR) gene - results to ion transport defect - build up of thick mucus - respiratoy insufficiency, systemic obstructions and abnormalities
Pathogens: pseudomonas, staphylococcus aureus
Assessment and treatment for cystic fibrosis
Auscultation
Respiratory therapy – draining of fluids
Spina bifida is the 2nd most common cause of childhood disability after CP
Spina bifida
Incomplete closure of the posterior components of the vertebrae because of a developmental disorder
Mechanism of injury in spina bifida
Failed neural tube closure in the embryonic spinal region - prolonged exposure to amniotic fluid environment - spinal cord becomes haemorrhagic and die of amniotic fluid toxicity
Neurodegeneration in utero - reason for the neurological manifestations of SB
Role of Genetics: Amino acid alteration mutations, Folate one-carbon metabolism encoding - low on folate status results to dysfunctional conversions, Siblinghood and twins
Risk factors for neural tube defects
Maternal factors: Maternal nutrition, Smoking, Hyperthermia, Low socio-economic status, Infections and illnesses, Diabetes, Obesity, Psychological stress, Use of Valproic Acid
Environmental factors: Air Pollution, Disinfectant by-products in drinking water, Nitrate-related compounds, Organic solvents, Pesticides, Polycyclic aromatic hydrocarbons