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J Child Neurol. 2015 Aug;30(9):1147-52. doi: 10.1177/0883073814554654. Epub 2014 Nov 3.

Down Syndrome Disintegrative Disorder: New-Onset Autistic Regression, Dementia, and Insomnia in Older Children and Adolescents With Down Syndrome.

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Division of Pediatric Neurology (Developmental Medicine), Durham, NC, USA
Division of Genetics and Metabolism, Durham, NC, USA.
Division of Laboratory Medicine, Department of Pathology, Duke University Medical Center, Durham, NC, USA.
Division of Endocrinology, Department of Pediatrics, Durham, NC, USA.


Over a 10-year period in a Down syndrome Clinic, 11 children and adolescents were encountered with a history of new-onset (8) or worsening (3) autistic characteristics. Ten of the 11 (91%) had cognitive decline to a dementia-like state and 9 of the 11 (82%) new-onset insomnia. The mean age at which symptoms developed was 11.4 years (standard deviation = 3.6 years; range 5-14 years), an older age than usual for autistic regression in Down syndrome. Ten of 11 cases (91%) had elevated ("positive") thyroperoxidase antibody titers compared to only 5 of 21 (23%) age-matched control subjects with Down syndrome (P < .001). At follow-up at a mean age of 20.7 years (standard deviation = 3.9 years), 8 of the 11 (73%) were at least somewhat better. Down syndrome disintegrative disorder seems an appropriate name for this newly recognized clinical association, which may be due to autoimmunity.


Down syndrome; Hashimoto; autism; catatonia; disintegrative disorder; insomnia; thyroperoxidase antibody

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