Makindo Medical Notes

Cerebral palsy is not a specific genetically determined biomedical condition like Duchenne muscular dystrophy. The term encompasses a group of conditions that have in common an impairment in brain function or structure that causes an enduring impairment in the development of motor control, often (but not invariably) with additional central nervous system impairments such as epilepsy, learning disabilities and sensory difficulties.

About

• Cerebral palsy comprises a range of non-progressive neurological impairments, present from the time of birth or arising in early childhood.
• Damage to the central nervous system manifests as a chronic motor disorder with stationary dynamics
• Often in conjunction with cognitive issues, epilepsy, sensory difficulties

Epidemiologic and genetic risk factors for cerebral palsy

• Prevalence: 2 in 1000 people
• Preterm delivery
• Coexisting congenital anomaly (maldevelopment)
• Probable genetic causes
• Bacterial and viral intrauterine infection
• Altered fetal inflammatory or thrombophilia response (perinatal stroke)
• Fetal growth restriction
• Higher-order pregnancy, risk greater with monozygosity and in vitro fertilization
• Tight nuchal umbilical cord
• Prolonged shoulder dystocia
• Placental pathology, eg, chorioamnionitis, Villitis
• Inborn errors of metabolism
• Male: female ratio 1.3:1

Clinical Types

Types of Cerebral Palsy

• Spastic CP: Characterized by stiff muscles and exaggerated reflexes. It is the most common form, accounting for approximately 70-80% of cases.
• Dyskinetic CP: Includes athetoid, choreoathetoid, and dystonic types, leading to involuntary movements and fluctuating muscle tone.
• Ataxic CP: Involves poor coordination, balance, and depth perception.
• Mixed CP: A combination of symptoms from different types of CP.

Clinical

• Physical exam: Assess muscle tone, reflexes, and coordination.
• Developmental milestones: Delays in motor skills development, such as sitting, crawling, or walking.
• Brain imaging: MRI or cranial ultrasound to identify brain damage or abnormal development.
• Gait analysis: For evaluating motor impairment and planning treatment strategies.

Investigations

• Brain Imaging, EEG, Genetic testing

Prevention

• Maternal vaccinations, Folate
• Avoid smoking, alcohol, other drugs

Management

• The long-held belief that most or many cases of CP are due to trauma or asphyxia around the time of birth and that earlier intervention can prevent the neuropathology is not evidence based
• Physical therapy: To improve mobility, strength, and coordination. Generalised support, adaptations and therapy. Orthotics, Casts and Splints Involvement of PT/OT and SLT can help. Educational support. The goal is independent living if possible depending on the deficits. A huge number of specialists may be involved.
• Occupational therapy: Focuses on improving daily living activities and adaptive techniques.
• Medications: Muscle relaxants (e.g., baclofen) or botulinum toxin injections for managing spasticity.
• Surgical interventions: Orthopedic surgery or selective dorsal rhizotomy to reduce muscle stiffness or correct deformities.
• Assistive devices: Braces, walkers, or wheelchairs for mobility support.
• Multidisciplinary care: Involves neurologists, orthopedic specialists, speech therapists, and social workers.
• New Drugs - Ataluren. Increases binding of transfer RNA (tRNA) molecules at the site of stop codons with a mismatch in one base (near-cognate tRNAs). These cause a full-length protein to be produced with an amino acid substitution rather than a truncated non-functional protein.
• Botulinum toxin has been used for focal areas of spasticity. Baclofen and other agents may be trialled.

References

• Cerebral palsy: causes, pathways, and the role of genetic variants
• A Guide To Cerebral Palsy