In 10% to 15% of cases, there is no clear cause of CP. There is increasing recognition that genetics plays a part, but no standardized approach to genetic testing in patients with CP exists. In this study we asked the question whether both people with and without known risk factors for CP should have genetic testing.
This study tested the safety and effectiveness of a neuroscience-based, multi-component intervention designed to improve motor skills and sensory processing of the more-affected arm and hand in infants with CP where one side is more impacted than the other (asymmetric CP).
In cerebral palsy (CP) muscles are often shortened so much that they restrict joint range of motion and the muscles themselves are weak. Thus, ‘shortness’ and ‘weakness’ are two important needs that clinicians must address.
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Cohort-based whole exome and whole genome sequencing and copy number variant (CNV) studies have identified genetic etiologies for a sizable proportion of patients with cerebral palsy (CP). These findings indicate that genetic mutations collectively comprise an important cause of CP.
"In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and observed enrichment of damaging de novo mutations in cerebral palsy cases."
Receiving early diagnoses or high‐risk for CP classification is a parent priority. Alignment between parents and providers exists for International Classification of Function domains of body functions/structures and activity, but less for those of environment, personal, and participation.
Early diagnosis of cerebral palsy (CP) is critical in obtaining evidence-based interventions when plasticity is greatest.
Early diagnosis begins with a medical history and involves using neuroimaging, standardized neurological, and standardized motor assessments that indicate congruent abnormal findings indicative of cerebral palsy. Clinicians should understand the importance of prompt referral to diagnostic-specific early intervention to optimize infant motor and cognitive plasticity, prevent secondary complications, and enhance caregiver well-being.