Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review (2024)

Kwetsie, H., van Schaijk, M., Van Der Lee, S., Maes-Festen, D., Ten Hoopen, L. W., van Haelst, M. M., Coesmans, M., Van Den Berg, E., De Wit, M. C. Y., Pijnenburg, Y., Aronica, E., Boot, E. (2024). Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review. Neurology, 102(11), Article e209413. https://doi.org/10.1212/wnl.0000000000209413

Kwetsie, Hadassa ; van Schaijk, Malu ; Van Der Lee, Sven et al. / Dementia in Rare Genetic Neurodevelopmental Disorders : A Systematic Literature Review. In: Neurology. 2024 ; Vol. 102, No. 11.

@article{ea355aed4ac745f0a742c95e58ce7998,

title = "Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review",

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.",

author = "Hadassa Kwetsie and {van Schaijk}, Malu and {Van Der Lee}, Sven and Dederieke Maes-Festen and {Ten Hoopen}, {Leontine W.} and {van Haelst}, {Mieke M.} and Michael Coesmans and {Van Den Berg}, Esther and {De Wit}, {Marie Claire Y.} and Yolande Pijnenburg and Eleonora Aronica and Erik Boot and {Van Eeghen}, {Agnies M.}",

year = "2024",

month = jun,

day = "11",

doi = "10.1212/wnl.0000000000209413",

language = "English",

volume = "102",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams & Wilkins",

number = "11",

}

Kwetsie, H, van Schaijk, M, Van Der Lee, S, Maes-Festen, D, Ten Hoopen, LW, van Haelst, MM, Coesmans, M, Van Den Berg, E, De Wit, MCY, Pijnenburg, Y, Aronica, E, Boot, E 2024, 'Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review', Neurology, vol. 102, no. 11, e209413. https://doi.org/10.1212/wnl.0000000000209413

Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review. / Kwetsie, Hadassa; van Schaijk, Malu; Van Der Lee, Sven et al.
In: Neurology, Vol. 102, No. 11, e209413, 11.06.2024.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Dementia in Rare Genetic Neurodevelopmental Disorders

T2 - A Systematic Literature Review

AU - Kwetsie, Hadassa

AU - van Schaijk, Malu

AU - Van Der Lee, Sven

AU - Maes-Festen, Dederieke

AU - Ten Hoopen, Leontine W.

AU - van Haelst, Mieke M.

AU - Coesmans, Michael

AU - Van Den Berg, Esther

AU - De Wit, Marie Claire Y.

AU - Pijnenburg, Yolande

AU - Aronica, Eleonora

AU - Boot, Erik

AU - Van Eeghen, Agnies M.

PY - 2024/6/11

Y1 - 2024/6/11

N2 - 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.

AB - 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.

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U2 - 10.1212/wnl.0000000000209413

DO - 10.1212/wnl.0000000000209413

M3 - Article

C2 - 38759134

AN - SCOPUS:85193607471

SN - 0028-3878

VL - 102

JO - Neurology

JF - Neurology

IS - 11

M1 - e209413

ER -

Kwetsie H, van Schaijk M, Van Der Lee S, Maes-Festen D, Ten Hoopen LW, van Haelst MM et al. Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review. Neurology. 2024 Jun 11;102(11):e209413. doi: 10.1212/wnl.0000000000209413