Evidence map›Paper›PMID 37561187›Full record

ReviewJournal of neurology2024

Understanding the genetic mechanisms and cognitive impairments in Down syndrome: towards a holistic approach.

Yara Abukhaled, Kenana Hatab, Mohammad Awadhalla, Hamdan Hamdan

Open access · hybridAbstract readReview
In one paragraph

Review in Journal of 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
4.9field-weighted citation impact, top 5% of its field
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, 17 citations in OpenAlex.

  1. Excitation-inhibition homeostasis in Alzheimer's disease: a selective multiscale review of mechanisms, sex differences, and therapeutic opportunities.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026
    Review
  2. Accelerated Tempo of Cortical Neurogenesis in Down Syndrome.bioRxiv : the preprint server for biology · 2025
    Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Decoding the genetic landscape of autism: A comprehensive review.World journal of clinical pediatrics · 2024
    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

4 authors at 1 institution in 1 country.

Yara AbukhaledDepartment of Physiology and Immunology, College of Medicine, and Health Sciences, Khalifa University, 127788, Abu Dhabi, United Arab Emirates.
Kenana HatabDepartment of Physiology and Immunology, College of Medicine, and Health Sciences, Khalifa University, 127788, Abu Dhabi, United Arab Emirates.
Mohammad AwadhallaDepartment of Physiology and Immunology, College of Medicine, and Health Sciences, Khalifa University, 127788, Abu Dhabi, United Arab Emirates.
Hamdan HamdanDepartment of Physiology and Immunology, College of Medicine, and Health Sciences, Khalifa University, 127788, Abu Dhabi, United Arab Emirates. hamdan.hamdan@ku.ac.ae.ORCID http://orcid.org/0000-0002-2029-6772
Khalifa University of Science and Technology · AE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The most common genetic cause of intellectual disability is Down syndrome (DS), trisomy 21. It commonly results from three copies of human chromosome 21 (HC21). There are no mutations or deletions involved in DS. Instead, the phenotype is caused by altered transcription of the genes on HC21. These transcriptional variations are responsible for a myriad of symptoms affecting every organ system. A very debilitating aspect of DS is intellectual disability (ID). Although tremendous advances have been made to try and understand the underlying mechanisms of ID, there is a lack of a unified, holistic view to defining the cause and managing the cognitive impairments. In this literature review, we discuss the mechanisms of neuronal over-inhibition, abnormal morphology, and other genetic factors in contributing to the development of ID in DS patients and to gain a holistic understanding of ID in DS patients. We also highlight potential therapeutic approaches to improve the quality of life of DS patients.

Indexed as

Cognitive DysfunctionDown SyndromeIntellectual DisabilityHumansPhenotypeQuality of LifeDown syndromeIntellectual disabilityMorphologyNeuronOver-inhibition

Identifiers

PMID37561187
PMCPMC10769995
OpenAlexW4385715510

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.