Evidence map›Paper›PMID 40353642›Full record

ReviewDisease models & mechanisms2025

Overgrowth-intellectual disability disorders: progress in biology, patient advocacy and innovative therapies.

Cooper Atterton, Isabella Trew, Jessica M Cale, May T Aung-Htut, Kerry Grens, Jill Kiernan, Christal G Delagrammatikas, Michael Piper

Abstract readReview
In one paragraph

Review in Disease models & mechanisms, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
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

8 authors.

Cooper AttertonThe School of Biomedical Sciences, The University of Queensland, Brisbane, QLD 4072, Australia.
Isabella TrewPersonalised Medicine Centre, Health Futures Institute, Murdoch University, Murdoch, WA 6150, Australia.
Jessica M CalePersonalised Medicine Centre, Health Futures Institute, Murdoch University, Murdoch, WA 6150, Australia.
May T Aung-HtutPersonalised Medicine Centre, Health Futures Institute, Murdoch University, Murdoch, WA 6150, Australia.
Kerry GrensTBRS Community, Stanfordville, NY 12581, USA.
Jill KiernanTBRS Community, Stanfordville, NY 12581, USA.
Christal G DelagrammatikasMalan Syndrome Foundation, Old Bridge, NJ 08857, USA.ORCID 0009-0000-0026-8734
Michael PiperThe School of Biomedical Sciences, The University of Queensland, Brisbane, QLD 4072, Australia.ORCID 0000-0002-6759-2560

Funding

Australian GovernmentSimons Foundation Autism Research Initiative
6 · The paper itself

Abstract

Overgrowth-intellectual disability (OGID) syndromes encompass a group of rare neurodevelopmental disorders that frequently share common clinical presentations. Although the genetic causes of many OGID syndromes are now known, we lack a clear mechanistic understanding of how such variants disrupt developmental processes and ultimately culminate in overgrowth and neurological symptoms. Patient advocacy groups, such as the Overgrowth Syndromes Alliance (OSA), are mobilising patients, families, clinicians and researchers to work together towards a deeper understanding of the clinical needs of patients with OGID, as well as to understand the fundamental biology of the relevant genes, with the goal of developing treatments. In this Review, we summarise three OGID syndromes encompassed by the OSA, namely Sotos syndrome, Malan syndrome and Tatton-Brown-Rahman syndrome. We discuss similarities and differences in the biology behind each disorder and explore future approaches that could potentially provide a way to ameliorate some of the unmet clinical needs of patients with OGID.

Indexed as

Intellectual DisabilityPatient AdvocacyTherapies, InvestigationalAnimalsHumansCerebral cortexIntellectual disabilityMalan syndromeOvergrowthSotos syndromeTatton-Brown-Rahman syndrome

Identifiers

PMID40353642
PMCPMC12091874

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

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 OpenQuestion graph.