Rapid clinical deterioration in an individual with Down syndrome

Jacobs, Julia; Schwartz, Alison; McDougle, Christopher J.; Skotko, Brian G.

doi:10.1002/ajmg.a.37674

Cited by 24 publications

(42 citation statements)

References 6 publications

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“…Consistent with descriptions by Ghaziuddin et al . and Jacobs et al., catatonia was common to all as well and is now included in the clinical features of DSDD. Three patients developed psychosis and one had seizures.…”

Section: Discussionsupporting

confidence: 82%

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Immunotherapy in selected patients with Down syndrome disintegrative disorder

Cardinale

Bocharnikov

Hart

et al. 2018

Develop Med Child Neuro

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DSDDDown syndrome disintegrative disorder ECT Electroconvulsive therapy IVIG Intravenous immunoglobulin Down syndrome disintegrative disorder (DSDD) is an increasingly identified condition characterized by cognitive decline, autistic characteristics, insomnia, catatonia, and psychosis in adolescents and young adults with Down syndrome. Previously we reported a higher rate of autoimmune thyroid disease in these patients compared with unaffected individuals with Down syndrome. We therefore hypothesized DSDD may in some cases be immune-mediated.Here we report four cases of DSDD treated with immunotherapy. Families were interviewed retrospectively for symptoms of cognitive decline, autism, catatonia, psychosis, and insomnia before and after treatment, using established scales where possible. Medical records were reviewed for evaluations and treatment. All four patients received intravenous immunoglobulin with or without additional immunotherapy. Significant improvements were seen in catatonia, insomnia, autistic features, cognition, and psychosis. In this small case series of patients with autoimmunity, core symptoms of DSDD improved significantly after immunotherapy. This supports the hypothesis that, in some patients, DSDD is immunemediated. Immunotherapy should be considered in the treatment of DSDD, particularly in patients with a history of autoimmunity.

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Section: Discussionsupporting

confidence: 82%

“…Previously, patients with Down syndrome and such an encephalopathy may have been misdiagnosed as having early‐onset Alzheimer disease. More recently, however, these symptoms have become recognized as a separate disease entity . Various etiologies have been proposed for the common phenotype of DSDD.…”

Section: Discussionmentioning

confidence: 99%

Immunotherapy in selected patients with Down syndrome disintegrative disorder

Cardinale

Bocharnikov

Hart

et al. 2018

Develop Med Child Neuro

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“…Thyroid antibodies (TPO) were tested for 50% of patients at the time of regression, but were absent in 80% of the cases, which is not compatible with the diagnosis of Hashimoto’s encephalopathy. In a case report of regression in a 19-year-old man with DS [2], several immune analyses were performed (Lyme antibodies, anti-streptolysin O, TPO, antinuclear, and N-methyl-D-aspartate receptor DA antibodies (NMDA), and no abnormalities were found. In a retrospective study, G. Worley et al [3] described 11 children and adolescents with DS with new-onset autistic regression, dementia, and insomnia.…”

Section: Discussionmentioning

confidence: 99%

“…Clinical onset can be sudden or progressive, and the evolution is quite variable. Isolated cases have been reported in the literature since 2011 with various designations [2], including “Down syndrome disintegrative disorder“ [3], “New-Onset Autistic Regression”, “Regression, Dementia, and Insomnia” [3], and “Catatonia” [4]. …”

Section: Introductionmentioning

confidence: 99%

Acute Regression in Young People with Down Syndrome

et al. 2017

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Adolescents and young adults with Down syndrome (DS) can present a rapid regression with loss of independence and daily skills. Causes of regression are unknown and treatment is most of the time symptomatic. We did a retrospective cohort study of regression cases: patients were born between 1959 and 2000, and were followed from 1984 to now. We found 30 DS patients aged 11 to 30 years old with history of regression. Regression occurred regardless of the cognitive level (severe, moderate, or mild intellectual disability (ID)). Patients presented psychiatric symptoms (catatonia, depression, delusions, stereotypies, etc.), partial or total loss of independence in activities of daily living (dressing, toilet, meals, and continence), language impairment (silence, whispered voice, etc.), and loss of academic skills. All patients experienced severe emotional stress prior to regression, which may be considered the trigger. Partial or total recovery was observed for about 50% of them. In our cohort, girls were more frequently affected than boys (64%). Neurobiological hypotheses are discussed as well as preventative and therapeutic approaches.

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“…Worley et al (31) summarized a case-series of what they termed DS disintegrative disorder, with results suggestive of a possible link with autoimmune function. A case study by Jacobs et al (32) of a young adult male with DS experiencing similar deterioration highlights the diagnostic and treatment challenges these individuals face.…”

Section: Dementia Symptoms and Presymptomatic Decline In Down Syndromementioning

confidence: 99%

Cognitive decline and dementia in Down syndrome

Hithersay

Hamburg

Knight

et al. 2017

Current Opinion in Psychiatry

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Clinical trials of treatments, particularly in the presymptomatic phase of Alzheimer's disease, are important to consider in individuals with Down syndrome given their high dementia burden, and may also serve as proof of concept for other forms of Alzheimer's disease. However, further work is required to improve outcome measures and better understand the biomarkers of progression of disorder and their relationship with symptom development during the presymptomatic period.

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Rapid clinical deterioration in an individual with Down syndrome

Cited by 24 publications

References 6 publications

Immunotherapy in selected patients with Down syndrome disintegrative disorder

Immunotherapy in selected patients with Down syndrome disintegrative disorder

Acute Regression in Young People with Down Syndrome

Cognitive decline and dementia in Down syndrome

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