Your browser doesn't support javascript.
loading
Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review.
Kwetsie, Hadassa; van Schaijk, Malu; Van Der Lee, Sven; Maes-Festen, Dederieke; Ten Hoopen, Leontine W; van Haelst, Mieke M; Coesmans, Michael; Van Den Berg, Esther; De Wit, Marie Claire Y; Pijnenburg, Yolande; Aronica, Eleonora; Boot, Erik; Van Eeghen, Agnies M.
Affiliation
  • Kwetsie H; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.),
  • van Schaijk M; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.),
  • Van Der Lee S; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.),
  • Maes-Festen D; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.),
  • Ten Hoopen LW; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.),
  • van Haelst MM; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.),
  • Coesmans M; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.),
  • Van Den Berg E; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.),
  • De Wit MCY; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.),
  • Pijnenburg Y; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.),
  • Aronica E; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.),
  • Boot E; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.),
  • Van Eeghen AM; From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.),
Neurology ; 102(11): e209413, 2024 Jun 11.
Article in En | MEDLINE | ID: mdl-38759134
ABSTRACT
BACKGROUND AND

OBJECTIVES:

Knowledge of young-onset Alzheimer disease in adults with Down syndrome has greatly improved clinical care. However, little is known about dementia in rare genetic neurodevelopmental disorders (RGNDs). In this review, a comprehensive overview is provided of reports on dementia and cognitive/adaptive trajectories in adults with RGNDs.

METHODS:

A systematic literature review was conducted in Embase, Medline ALL, and PsycINFO on December 6, 2022. The protocol was registered in PROSPERO (CRD42021223041). Search terms for dementia, cognitive and adaptive functioning, and RGNDs were combined using generic terms and the Orphanet database. Study characteristics and descriptive data on genetic diagnosis, clinical and neuropathologic features, comorbidities, and diagnostic methods were extracted using a modified version of the Cochrane Data Extraction Template.

RESULTS:

The literature search yielded 40 publications (17 cohorts, 23 case studies) describing dementia and/or cognitive or adaptive trajectories in adults with 14 different RGNDs. Dementia was reported in 49 individuals (5 cohorts, 20 cases) with a mean age at onset of 44.4 years. Diagnostics were not disclosed for half of the reported individuals (n = 25/49, 51.0%). A total of 44 different psychodiagnostic instruments were used. MRI was the most reported additional investigation (n = 12/49, 24.5%). Comorbid disorders most frequently associated with cognitive/adaptive decline were epilepsy, psychotic disorders, and movement disorders.

DISCUSSION:

Currently available literature shows limited information on aging in RGNDs, with relatively many reports of young-onset dementia. Longitudinal data may provide insights into converging neurodevelopmental degenerative pathways. We provide recommendations to optimize dementia screening, diagnosis, and research.
Subject(s)
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dementia / Neurodevelopmental Disorders Limits: Adult / Humans Language: En Journal: Neurology Year: 2024 Document type: Article Country of publication: United States
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dementia / Neurodevelopmental Disorders Limits: Adult / Humans Language: En Journal: Neurology Year: 2024 Document type: Article Country of publication: United States