Week 2: CP and Neurodevelopmental Disorders

Flashcards covering cerebral palsy and genetic neurodevelopmental disorders based on lecture notes.

Palsy

Comes from the same Greek root as paralysis and refers to muscle weakness or paralysis. Examples include Bell's palsy, Parkinson's ('Shaking palsy'), and Bulbar palsy.

Cerebral Palsy (CP)

The most common movement disorder in children, affecting about 1 in 500 births. It is not a single condition and includes types like spastic, dyskinetic, ataxic, and hypotonic.

Aetiology of Cerebral Palsy

CP is caused by brain injury or developmental disorder, with 90% of cases being congenital and 10% acquired in the first year of life. Risk factors include oxygen deprivation during birth, pre-term birth, genetics, twin births, low socioeconomic status, low birth weight, maternal infection, and perinatal stroke.

Pathophysiology of CP

Involves white matter injury. Hypomyelination. Pro inflammatory microglia. Cognitive, sensory, and motor deficits

Spastic Cerebral Palsy

Caused by damage to white matter from the motor cortex (upper motor neurons), leading to hypertonia (stiffness). Can manifest as diplegia (legs), hemiplegia (one side of body), or quadriplegia (all 4 limbs). Can affect other parts of the body leading to problems swalloing and speaking. Diplegia often presents with scissoring gait

Dyskinetic Cerebral Palsy

Results from damage to the basal ganglia, affecting motor function regulation. Characterized by athetosis (slow writhing movements), chorea (hyperkinetic 'dance-like' movements), and dystonia (repetitive, twisted movements).

Ataxic Cerebral Palsy

Caused by damage to the cerebellum, leading to problems with coordination and balance.

Treatment for Cerebral Palsy

There is no cure. Treatments include physiotherapy, speech and language therapy, assistive technologies, muscle relaxants, surgery, pain relief medication, and anticonvulsant medication.

Williams Syndrome

A genetic neurodevelopmental disorder involving the deletion of 27 genes on chromosome 7, leading to a characteristic appearance, motor task difficulties, visual-spatial task difficulties, and a 'cocktail party personality.'

Angelman Syndrome

A genetic neurodevelopmental disorder caused by the deletion of the UBE3A gene on maternal chromosome 15. Symptoms include seizures, ataxia, learning difficulties, and uncontrolled laughter.

Prader-Willi Syndrome

A genetic neurodevelopmental disorder resulting from the deletion of a cluster of genes on paternal chromosome 15. Characteristics include cognitive deficits, poor spoken language, insatiable appetite, and underdevelopment of basal ganglia, amygdala, hippocampus, hypothalamus, and cerebellum.