Autism and autoimmune disease: A family study

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Abstract

A family is presented to demonstrate the rare phenomenon of early infantile autism in the presence of autoimmune disease. The youngest son in the family has a multiple diagnosis of autism, Addison's disease, and moniliasis. The next older brother has hypoparathyroidism, Addison's disease, moniliasis, and diabetes mellitus. The next older brother has hypoparathyroidism, Addison's disease, moniliasis, and alopecia totalis. The oldest son and first born child in this family of four is, along with the parents, symptom free. Whereas autism in the youngest son might be attributed to the traumatic family situation, in which there exists the constant threat of near-death, it might conceivably be attributed also to a primary effect of autoimmune impairment from the formation of autoantibodies affecting the central nervous system.

Supported by Research Grants 5K03-HD18635, 2R01-HD00325 and 2R01-HD01852, United States Public Health Service.
The diagnostic studies and clinical management of the patients were under the supervision of Dr. Robert M. Blizzard, The Johns Hopkins Hospital. Mrs. Viola G. Lewis administered an intelligence test to one of the patients and saw all for follow-up interviews on several occasions. We express our gratitude to the patients' parents for their kind cooperation, and for permission to publish our study of this important case.