Neurogenetic disorders across the lifespan: from aberrant development to degeneration.
Richard A HickmanSarah A O'SheaMark F MehlerWendy K ChungPublished in: Nature reviews. Neurology (2022)
Intellectual disability and autism spectrum disorder (ASD) are common, and genetic testing is increasingly performed in individuals with these diagnoses to inform prognosis, refine management and provide information about recurrence risk in the family. For neurogenetic conditions associated with intellectual disability and ASD, data on natural history in adults are scarce; however, as older adults with these disorders are identified, it is becoming clear that some conditions are associated with both neurodevelopmental problems and neurodegeneration. Moreover, emerging evidence indicates that some neurogenetic conditions associated primarily with neurodegeneration also affect neurodevelopment. In this Perspective, we discuss examples of diseases that have developmental and degenerative overlap. We propose that neurogenetic disorders should be studied continually across the lifespan to understand the roles of the affected genes in brain development and maintenance, and to inform strategies for treatment.
Keyphrases
- intellectual disability
- autism spectrum disorder
- attention deficit hyperactivity disorder
- mental health
- electronic health record
- physical activity
- big data
- resting state
- machine learning
- functional connectivity
- health information
- middle aged
- artificial intelligence
- community dwelling
- blood brain barrier
- free survival
- dna methylation