Publications by authors named "Emma Bohn"
Dystonia, typically characterized by slow repetitive involuntary movements, stiff abnormal postures, and hypertonia, is common among individuals with cerebral palsy (CP). Dystonia can interfere with activities and have considerable impact on motor function, pain/comfort, and ease of caregiving. Although pharmacological and neurosurgical approaches are used clinically in individuals with CP and dystonia that is causing interference, evidence to support these options is limited.
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- Variants in the untranslated regions (UTRs) of genes can cause rare diseases, and understanding their pathogenicity is crucial for diagnosing and treating these conditions.
- To improve prediction accuracy, researchers created a reliable dataset of pathogenic (P) and likely pathogenic (LP) variants, assessing deep learning (DL) models' ability to understand their molecular effects.
- The study found significant differences in predictions made by DL models when analyzing P/LP variants compared to benign variants, suggesting these models can be effective tools for identifying harmful genetic changes.
Aim: To update a systematic review of evidence published up to December 2015 for pharmacological/neurosurgical interventions among individuals with cerebral palsy (CP) and dystonia.
Method: Searches were updated (January 2016 to May 2020) for oral baclofen, trihexyphenidyl, benzodiazepines, clonidine, gabapentin, levodopa, botulinum neurotoxin (BoNT), intrathecal baclofen (ITB), and deep brain stimulation (DBS), and from database inception for medical cannabis. Eligible studies included at least five individuals with CP and dystonia and reported on dystonia, goal achievement, motor function, pain/comfort, ease of caregiving, quality of life (QoL), or adverse events.