A Family with Steroid-responsive Autism

Summary: We present a family of three siblings. The older two had been given diagnoses of autism by the time the youngest presented with epileptic seizures. Investigation of the youngest sibling revealed a highly abnormal electroencephalogram which was characterised by electrical status epilepticus in slow wave sleep. The older siblings then had electroencephalograms which were also highly abnormal. All three children demonstrated an improvement in language and behaviour when treated with oral prednisolone. Index case: The index case, a five-year-old boy, presented in December 2014 with a nocturnal convulsive epileptic seizure lasting approximately 1 min. Four limb jerking was accompanied by drooling from the corner of his mouth. The following morning he was noted to be very different. He was not speaking and was described by his mother as being unusually “quiet and reserved.” A 24 h ambulatory electroencephalogram was arranged. This showed very frequent epileptic activity and electrical status epilepticus in slow wave sleep. He was treated with four weeks of oral prednisolone. He gradually regained his previous language ability. Repeat electroencephalogram two months later demonstrated a clear improvement, with no evidence of electrical status epilepticus in slow wave sleep. Older siblings: Older brother of the index case, aged nine, had been diagnosed with autism at the age of four. Having gained language skills up to the age of two years he went through a period of regression in speech and behaviour. Since then gradually gained language skills and was able to speak in three to four word sentences at the age of nine. Electroencephalogram at the age of nine was near identical to that of his younger brother. He was also treated with oral prednisolone. Both electroencephalogram and language ability improved markedly. An older sister of the index case, aged eight, had been diagnosed with autism at the age of five. At the age of two she could say several people’s names, several colours and could sing ‘twinkle twinkle little star’. She then lost all expressive language. Electroencephalogram at the age of seven was more abnormal than her brothers’ and also showed electrical status epilepticus in slow wave sleep. After treatment with oral prednisolone the electroencephalogram improved markedly and she started to say the names of her brothers. Message: We would like to use this case to highlight the importance of considering electrical status epilepticus in slow wave sleep as a cause of ‘autistic regression’. We would like to discuss the increasing evidence, particularly from genetic studies, supporting a theory of shared neurobiology between epilepsy and autism