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Dev Med Child Neurol. 2016 Oct;58(10):1092-4. doi: 10.1111/dmcn.13169. Epub 2016 Jun 3.

N-methyl-d-aspartate (NMDA) receptor antibodies encephalitis mimicking an autistic regression.

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Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Paediatric Neuroscience, Evelina Children's Hospital @ Guys and St Thomas' NHS Foundation Trust, Kings Health Partners Academic Health Science Centre, London, UK.
Department of Paediatric Neurology, Birmingham Children's Hospital, Birmingham, UK.


Expressive dysphasia and mutism are common clinical features in children and adults with N-methyl-d-aspartate receptor antibodies (NMDAR-Ab) encephalitis, and are likely to result from NMDAR hypofunction. A prodromal loss of social and communication skills can typify that of an autistic regression, particularly when presenting under the age of 3 years. Here we describe two toddlers who presented with developmental regression, particularly of their social communication skills, mimicking an autistic regression, who were found to have NMDAR-Ab in the serum and cerebrospinal fluid. Although both patients had some other neurological features, they were subtle, which resulted in delayed diagnosis of NMDAR-Ab encephalitis. Importantly, immunotherapy was beneficial in both patients, with significant improvement of their language skills and behaviour.

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