Down’s syndrome regression disorder (DSRD)
Evidence-based neurology checklist on down’s syndrome regression disorder (dsrd): Definition: rapid loss of skills Language Communication Cognition Executive function Behaviours Adaptive skills Neurological features Psychiatric features Cerebrospinal fluid (CSF) analysis Electroencephalogram (EEG)…
Definition: rapid loss of skills
- Language
- Communication
- Cognition
- Executive function
- Behaviours
- Adaptive skills
Neurological features
Psychiatric features
Cerebrospinal fluid (CSF) analysis
Electroencephalogram (EEG)
Magnetic resonance imaging (MRI) brain
Other basic investigations
Conditional blood tests
Conditional urine tests
Conditional CSF tests
Treatments
References
- Santoro JD, Partridge R, Tanna R, et al. Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder. J Neurodev Disord 2022; 14:35.
- Santoro JD, Patel L, Kammeyer R, et al. Assessment and diagnosis of Down syndrome regression disorder: international expert consensus. Front Neurol 2022; 13:940175.
- Lott IT. Neurological phenotypes for Down syndrome across the life span. Prog Brain Res 2012; 197:101-121.
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