From the Guidelines
To diagnose cerebral palsy, order a comprehensive evaluation including brain MRI, Hammersmith Infant Neurological Examination (HINE), and General Movements Assessment (GMs) for infants, as these tools have high predictive validity for detecting cerebral palsy. According to the most recent and highest quality study 1, the diagnostic yield of exome sequencing in cerebral palsy is similar to that of other neurodevelopmental disorders, supporting the inclusion of cerebral palsy in the current recommendation of exome sequencing in the diagnostic evaluation of individuals with neurodevelopmental disorders.
Key Components of the Evaluation
- Brain MRI to identify structural abnormalities or evidence of brain injury
- HINE to assess motor function and neurological development
- GMs to evaluate general movements and detect potential abnormalities
- Referrals to specialists, including pediatric neurologists, developmental pediatricians, and physical therapists, for comprehensive evaluation and assessment of motor function, muscle tone, reflexes, and developmental milestones
Importance of Early Diagnosis
Early diagnosis of cerebral palsy allows for timely intervention with physical, occupational, and speech therapies, which can significantly improve outcomes through neuroplasticity during critical developmental periods 1. The American Academy of Pediatrics recommends early diagnosis and intervention for cerebral palsy, as it can improve functional outcomes and quality of life for individuals with the condition 1.
Additional Considerations
Laboratory tests, including metabolic screening and tests for infections, may also be necessary to rule out other potential causes of symptoms. Genetic testing, such as exome sequencing, may be considered to identify underlying genetic mutations that may be contributing to the development of cerebral palsy 1.
From the Research
Diagnostic Approach for Cerebral Palsy
To diagnose cerebral palsy, a comprehensive approach is necessary, involving:
- Medical history
- Detailed physical examination
- Functional assessment
- Imaging studies, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, which can be helpful in confirming brain injury and understanding etiology 2
- Observational gait analysis
- Computerized gait analysis
- Assessment of patient and family goals
Role of Imaging in Diagnosis
Imaging studies, particularly MRI, can provide valuable information on the etiology and pathogenesis of cerebral palsy, including ruling in or out conditions that may have implications for genetic counseling 2. However, neuroimaging is not necessarily required for diagnosis, as cerebral palsy is primarily a clinical diagnosis 3, 2.
Clinical Examination
A thorough clinical examination is essential in the assessment of children with cerebral palsy, including:
- Analysis of gait
- Radiological assessment
- Evaluation of musculoskeletal manifestations, such as poor muscle function, spasticity, and joint contractures 4
- Assessment of cognitive function, seizures, and other associated problems 3
Diagnostic Tools
The Gross Motor Function Classification System can be used to evaluate the severity of cerebral palsy and treatment response 3. Other diagnostic tools, such as the examination of the child's medical history, functional assessment, and observational gait analysis, can also be helpful in preparing treatment plans and accurately assessing outcomes of treatment 5.