What is Cerebral Palsy (CP) and how is it managed from diagnosis to treatment?

Cerebral Palsy: From Diagnosis to Management

Cerebral palsy (CP) is a group of permanent disorders affecting movement and posture caused by non-progressive disturbances in the developing fetal or infant brain, requiring early diagnosis and prompt intervention to optimize neuroplasticity, prevent secondary complications, and enhance quality of life. 1, 2

Definition and Epidemiology

• CP is the most common physical disability in childhood with a prevalence of 2.1 cases per 1000 live births in high-income countries 2
• CP prevalence is declining in Australia and Europe but appears higher in low to middle-income countries due to greater infectious disease burden and differences in prenatal/perinatal care 2
• Recent evidence indicates that genetic factors contribute to approximately 14% of CP cases, challenging the traditional view of CP as primarily caused by birth complications 2

Etiology and Risk Factors

• Genetic factors: Recent meta-analysis shows a 31.1% diagnostic yield of pathogenic/likely pathogenic variants when using exome sequencing, similar to other neurodevelopmental disorders 1
• Maternal conditions: Thyroid disease, preeclampsia, infections 2
• Pregnancy complications: Intrauterine growth restriction, multiple gestation 2
• Preconception risks: History of stillbirths, miscarriages, low socioeconomic status, assisted reproduction 2
• Birth asphyxia accounts for less than 10% of CP cases, contrary to previous beliefs 1
• Infections, trauma, stroke, and hypoxic events occurring in early infancy 2

Clinical Presentation and Classification

Motor Types

• Spasticity (85%-91%): Characterized by increased muscle tone and pathological reflexes 1, 2
• Dyskinesia (4%-7%): Includes dystonia and athetosis with involuntary movements 1, 2
• Ataxia (4%-6%): Characterized by disturbed coordination and balance 1, 2
• Hypotonia (2%): Not classified in all countries 1, 2

Topographical Distribution

• Unilateral (hemiplegia) (38%): Affecting one side of the body 1, 2
• Bilateral diplegia (37%): Lower limbs affected more than upper limbs 1, 2
• Bilateral quadriplegia (24%): All four limbs and trunk affected 1, 2

Common Comorbidities

• Chronic pain (75%) 1, 2
• Intellectual disability (49%) 1, 2
• Epilepsy (35%) 1, 2
• Musculoskeletal problems, e.g., hip displacement (28%) 1, 2
• Behavioral disorders (26%) 1, 2
• Sleep disorders (23%) 1, 2
• Visual impairment (11%) 1, 2
• Hearing impairment (4%) 1, 2

Early Diagnosis

Before 5 Months' Corrected Age

• Term-age MRI (86%-89% sensitivity) 1, 2
• Prechtl Qualitative Assessment of General Movements (98% sensitivity) 1, 2
• Hammersmith Infant Neurological Examination (90% sensitivity) 1, 2

After 5 Months' Corrected Age

• MRI (86%-89% sensitivity) where safe and feasible 1
• Hammersmith Infant Neurological Examination (90% sensitivity) 1
• Developmental Assessment of Young Children (83% C index) 1

Red Flags Warranting Investigation

• Loss of motor milestones (suggestive of neurodegenerative process) 2
• Respiratory insufficiency with generalized weakness 2
• Abnormalities on brain MRI 2
• Motor delays present during minor acute illness 2

Neuroimaging Findings

• White matter injury (cystic periventricular leukomalacia or periventricular hemorrhagic infarctions) (56%) 2
• Cortical and deep gray matter lesions (basal ganglia or thalamus lesions, watershed injury, multicystic encephalomalacia, or stroke) (18%) 2
• Brain maldevelopments (lissencephaly, pachygyria, cortical dysplasia, polymicrogyria, or schizencephaly) (9%) 2

Functional Classification Systems

• Gross Motor Function Classification System (GMFCS): Classifies gross motor function with emphasis on sitting and walking 3
• Manual Ability Classification System (MACS): Assesses how children use their hands to handle objects 3
• Communication Function Classification System (CFCS): Evaluates everyday communication effectiveness 3
• Eating and Drinking Ability Classification System (EDACS): Assesses feeding safety and efficiency 3

Management Approach

Early Intervention

• Early diagnosis and prompt referral to diagnostic-specific intervention is essential to optimize infant motor and cognitive plasticity, prevent secondary complications, and enhance caregiver well-being 1, 2
• Early intervention should begin as soon as CP is suspected rather than waiting for definitive diagnosis 2
• Task-specific, motor training-based early intervention is recommended as they induce neuroplasticity and produce functional gains 1

Motor Interventions

• For unilateral CP (hemiplegia): Constraint-induced movement therapy (CIMT) or bimanual therapy to improve hand function 1
• For bilateral CP (diplegia): Learning Games Curriculum 1
• For all subtypes: Goals-Activity-Motor Enrichment (GAME) which provides early, intense, enriched, task-specific, training-based intervention at home 1
• Regular surveillance and intervention for children with bilateral CP to lower rates of hip displacement, contracture, and scoliosis 1

Spasticity Management

• Oral medications (e.g., baclofen, diazepam) 4
• Botulinum toxin injections for focal spasticity 4
• Phenol injections for larger muscle groups 4
• Intrathecal baclofen for severe generalized spasticity 4
• Selective dorsal rhizotomy for spastic diplegia 1, 4

Communication and Cognitive Interventions

• Speech language pathology interventions to foster parent-infant transactions 1
• Augmentative and alternative communication when speech is not possible or inadequate 1

Secondary Complication Prevention

• Hip surveillance to prevent displacement 1
• Scoliosis monitoring and management 1
• Pain management strategies 1
• Epilepsy management 1

Prognosis

• 2 in 3 individuals with CP will walk 1, 2
• 3 in 4 will talk 1, 2
• 1 in 2 will have normal intelligence 1, 2

Emerging Treatments

• Regenerative agents to induce brain repair are being studied, including:
  • Erythropoietin plus hypothermia vs. hypothermia alone 1
  • Umbilical cord blood plus hypothermia vs. hypothermia alone 1
• Genetic testing is increasingly recommended as standard care, with exome sequencing showing high diagnostic yield (31.1%) 1