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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.

Original publication

DOI

10.1111/dmcn.13169

Type

Journal article

Journal

Dev Med Child Neurol

Publication Date

10/2016

Volume

58

Pages

1092 - 1094

Keywords

Anti-N-Methyl-D-Aspartate Receptor Encephalitis, Autistic Disorder, Child, Preschool, Communication Disorders, Delayed Diagnosis, Female, Humans, Male