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Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review
Kwetsie H, van Schaijk M, Van Der Lee S, Maes-Festen D, Ten Hoopen LW, van Haelst MM, Coesmans M, Van Den Berg E et al.. Neurology, 2024-05-17
Topic: Risk, prevention and care in population studies
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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APA 7th
Kwetsie, H., van Schaijk, M., Van Der Lee, S., Maes-Festen, D., Ten Hoopen, L. W., van Haelst, M. M., et al. (2024). Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review. Neurology. https://doi.org/10.1212/wnl.0000000000209413
Vancouver
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. doi:10.1212/wnl.0000000000209413. PMID: 38759134.
BibTeX
@article{kwetsie2024-38759134,
author = {Kwetsie, H. and van Schaijk, M. and Van Der Lee, S. and Maes-Festen, D. and Ten Hoopen, L. W. and van Haelst, M. M. and Coesmans, M. and Van Den Berg, E. and others},
title = {{Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review}},
journal = {Neurology},
year = {2024},
doi = {10.1212/wnl.0000000000209413},
pmid = {38759134},
url = {https://doi.org/10.1212/wnl.0000000000209413}
}
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Key findings
- 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.
- Comorbid disorders most frequently associated with cognitive/adaptive decline were epilepsy, psychotic disorders, and movement disorders.
Why it matters
This review found reports of dementia in 49 adults across 14 rare genetic neurodevelopmental disorders, with a mean age at onset of 44.4 years. It shows how little is known about dementia in these conditions, since diagnostic methods were undisclosed for about half of the reported individuals.
Study details
- Study designlongitudinal study
- Participants25
- Effect size51.0%; 24.5%
- Evidence strengthModerate
How this study scored 64/100
Published in a leading specialty journal, and it is a systematic review of all the studies on the question.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Neurology) |
| Journal's citation record | 4 / 4 | Neurology: journal h-index 525 (OpenAlex, 2026-10-29) |
| Study design | 12 / 12 | A systematic review of all the studies on the question (from PubMed type “Systematic Review”) |
| Strength of evidence | 3 / 5 | Rated “moderate” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 4 / 5 | 2024 — within 3 year(s) of the newest study here |
| Sample size | 1 / 4 | 25 participants |
| Effect reported | 2 / 3 | Effect reported as a number, without an interval or test |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | A review of other studies — randomisation is not credited here |
| Times cited | 2 / 7 | Cited 12 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 3.0 citations a year over 4 year(s) since 2024 |
| Impact for its field and year | 2 / 6 | Cited 2.9× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 1 / 4 | Cited 12 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Agnies M. van Eeghen: h-index 24 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of Amsterdam: institution h-index 1,209 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 5 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 38759134) |
| Free to read | 2 / 2 | Free to read |
| Total | 64 / 100 | — |
What each of these 20 components measures, and what this score is not →
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