Evidence map›Paper›PMID 38759134›Full record

SynthesisNeurology2024

Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review.

Hadassa Kwetsie, Malu van Schaijk, Sven Van Der Lee, Dederieke Maes-Festen, Leontine W Ten Hoopen, Mieke M van Haelst, Michael Coesmans, Esther Van Den Berg, Marie Claire Y De Wit, Yolande Pijnenburg and 3 more

Abstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed.

  1. Review
  2. Review
  3. Data resource profile: Australian and New Zealand Hip Fracture Registry (ANZHFR).Hip international : the journal of clinical and experimental research on hip pathology and therapy · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Hadassa KwetsieFrom 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.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.
Malu van SchaijkFrom 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.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.ORCID 0009-0000-7484-2954
Sven Van Der LeeFrom 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.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.ORCID 0000-0003-1606-8643
Dederieke Maes-FestenFrom 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.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.
Leontine W Ten HoopenFrom 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.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.
Mieke M van HaelstFrom 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.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.
Michael CoesmansFrom 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.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.
Esther Van Den BergFrom 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.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.ORCID 0000-0002-8120-7366
Marie Claire Y De WitFrom 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.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.
Yolande PijnenburgFrom 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.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.
Eleonora AronicaFrom 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.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.ORCID 0000-0002-3542-3770
Erik BootFrom 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.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.ORCID 0000-0002-0593-1539
Agnies M Van EeghenFrom 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.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectivesKnowledge 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.

methodsA 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.

resultsThe 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.

Indexed as

DementiaNeurodevelopmental DisordersAdultHumansRare Diseases

Identifiers

PMID38759134
PMCPMC11175636

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.