LEC 24: Pediatric Diseases

What is cerebral palsy?

Neurological condition resulting from damage to the brain during pregnancy, childbirth, or the puerperium, that can present as issues with muscle tone, posture and/or movement disorder. Non-progressive. Ranges from minimal to profound

What are the types of cerebral palsy?

Spastic (most common), dyskinetic, ataxic, mixed types

What is the epidemiology of cerebral palsy?

~2 per 1000 live births globally. Risk increases dramatically with low birth weight (

What is the aetiology of cerebral palsy?

Brain injury before, during, or shortly after birth while the brain is developing. Causes include brain malformations, genetic disorders, placental damage, prenatal toxin exposure (nicotine, alcohol, drugs), maternal infections (e.g., German measles), prematurity/low birth weight, brain hemorrhage, and oxygen deprivation from birth complications or early-life trauma

How is cerebral palsy diagnosed?

History, physical examination (vision, hearing, speech, intellect, development, movement), and imaging

What are the signs and symptoms of spastic cerebral palsy?

Increased muscle tone (hypertonia), hyperactive stretch reflexes, increased resistance to rapid stretch, and extensor plantar responses

What are the signs and symptoms of dyskinetic cerebral palsy?

Impaired voluntary movement due to involuntary movements and abnormal co-contraction of agonist/antagonist muscles

What are the signs and symptoms of ataxic cerebral palsy?

Cerebellar dysfunction: hypotonia, ataxia, dysdiadochokinesis, dysmetria, dysarthria, and nystagmus

How is cerebral palsy classified?

Levels I–V based on gross motor function (severity of motor impairment and functional mobility)

What is the prognosis of cerebral palsy?

Variable. More severe CP is associated with reduced life expectancy. Modern management focuses on function and participation rather than “normalization”

How is cerebral palsy managed?

Physiotherapy (mobility, strength, ROM), occupational therapy (ADLs and adaptive equipment), speech therapy (communication support), medications (e.g., botulinum toxin for spasticity), and surgery (spine/hip/limb correction)

What is exercise for cerebral palsy?

CP is non-progressive, but adults often experience declining mobility (20–50%) due to deconditioning, reduced ROM, strength, balance, and aerobic capacity. Exercise should follow general FITT principles but must account for pain and fatigue

What is cystic fibrosis?

Genetic disorder causing abnormally thick mucus and high-salt sweat. Chronic, progressive disease affecting lungs (chronic infection/bronchitis) and pancreas (enzyme insufficiency, diabetes, malabsorption)

What is meconium ileus?

Neonatal intestinal obstruction caused by thick meconium; occurs in 10–20% of CF cases and up to 90% of infants with meconium ileus have CF

What is the epidemiology of cystic fibrosis?

Varies by region: ~1/3300 in Canada, ~1/3000–1/6000 in European ancestry populations, much rarer in Asia. Increasing survival has led to >50% of patients being adults in many countries

What is the aetiology of cystic fibrosis?

Autosomal recessive mutation in the CFTR gene (both alleles affected, one from each parent)

What is the pathology of cystic fibrosis?

CFTR chloride channel dysfunction prevents chloride and water movement out of cells, producing thick, sticky mucus that obstructs organs and impairs function

What are the signs and symptoms of cystic fibrosis?

Chronic respiratory infections, wheezing, persistent cough, sinus infections, pancreatic insufficiency, fatty stools, elevated sweat chloride, poor growth, and failure to thrive

What are the complications of cystic fibrosis?

Recurrent lung infections, male infertility (CBAVD), diabetes, malnutrition, osteopenia/osteoporosis, and pregnancy complications (including preterm birth)

How is cystic fibrosis diagnosed?

Newborn screening (IRT), sweat chloride test (gold standard), genetic testing, imaging, pulmonary function tests, sputum culture, and sometimes pancreatic assessment

What is the prognosis of cystic fibrosis?

Median survival ~50 years. Historically fatal in infancy; outcomes improved significantly after CFTR gene discovery and modern treatments

How is cystic fibrosis managed?

Airway clearance, infection control (antibiotics), nutritional support (pancreatic enzymes), and CFTR modulators

What is exercise for cystic fibrosis?

Long-term physical activity may improve exercise capacity, but has minimal consistent effect on lung function or quality of life compared to inactivit