title: Down Syndrome Disintegrative Disorder: New-Onset Autistic Regression, Dementia, and Insomnia in Older Children and Adolescents With Down Syndrome.
abstract: 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.
authors.affiliation: Division of Pediatric Neurology (Developmental Medicine), Durham, NC, USA gordon.worley@duke.edu.
authors.forename: Gordon
authors.initials: G
authors.lastname: Worley
authors.affiliation: Division of Genetics and Metabolism, Durham, NC, USA.
authors.forename: Blythe G
authors.initials: BG
authors.lastname: Crissman
authors.affiliation: Division of Laboratory Medicine, Department of Pathology, Duke University Medical Center, Durham, NC, USA.
authors.forename: Emily
authors.initials: E
authors.lastname: Cadogan
authors.affiliation: Division of Genetics and Metabolism, Durham, NC, USA.
authors.forename: Christie
authors.initials: C
authors.lastname: Milleson
authors.affiliation: Division of Endocrinology, Department of Pediatrics, Durham, NC, USA.
authors.forename: Deanna W
authors.initials: DW
authors.lastname: Adkins
authors.affiliation: Division of Genetics and Metabolism, Durham, NC, USA.
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders; D003704:Dementia / Q000209:etiology*; D002658:Developmental Disabilities / Q000209:etiology*; D004314:Down Syndrome / Q000150:complications*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D012043:Regression, Psychology; D007319:Sleep Initiation and Maintenance Disorders / Q000209:etiology*; D013961:Thyroid Gland / Q000276:immunology / Q000473:pathology
keywords: Down syndrome; Hashimoto; autism; catatonia; disintegrative disorder; insomnia; thyroperoxidase antibody