Down’s syndrome regression disorder (DSRD)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Down’s syndrome regression disorder (DSRD). Language, Communication, Cognition, Executive function, Behaviours. Fully referenced neurology checklist.
Definition: rapid loss of skills
- Language
- Communication
- Cognition
- Executive function
- Behaviours
- Adaptive skills
Neurological features
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Psychiatric features
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Cerebrospinal fluid (CSF) analysis
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Electroencephalogram (EEG)
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Magnetic resonance imaging (MRI) brain
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Other basic investigations
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Conditional blood tests
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Conditional urine tests
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Conditional CSF tests
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Treatments
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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.
