Evidence map›Paper›PMID 39736497›Full record

ArticleAnnals of rehabilitation medicine2024

Genetics of Cerebral Palsy: Diagnosis, Differential Diagnosis, and Beyond.

Dae-Hyun Jang, Jaewon Kim, Aloysia Leisanne Schwabe, Timothy Edward Lotze

Abstract read
In one paragraph

Article in Annals of rehabilitation medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. 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

4 authors.

Dae-Hyun JangDepartment of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Jaewon KimDepartment of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Aloysia Leisanne SchwabeDepartment of Physical Medicine and Rehabilitation, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, United States.
Timothy Edward LotzeDivision of Neurology and Developmental Neuroscience, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cerebral palsy (CP) is the most common motor disability in children, characterized by diverse clinical manifestations and often uncertain etiology, which has spurred increasing interest in genetic diagnostics. This review synthesizes findings from various studies to enhance understanding of CP's genetic underpinnings. The discussion is structured around five key areas: monogenic causes and copy number variants directly linked to CP, differential genetic disorders including atypical CP and mimics, ambiguous genetic influences, co-occurrence with other neurodevelopmental disorders, and polygenic risk factors. Case studies illustrate the clinical application of these genetic insights, underscoring the complexity of diagnosing CP due to the phenotypic overlap with other conditions and the potential for misdiagnosis. The review highlights the significant role of advanced genetic testing in distinguishing CP from similar neurodevelopmental disorders and assessing cases with unclear clinical presentations. Furthermore, it addresses the ongoing challenges in establishing a consensus on genetic contributors to CP, the need for comprehensive patient phenotyping, and the integration of rigorous genetic and functional studies to validate findings. This comprehensive examination of CP genetics aims to pave the way for more precise diagnostics and personalized treatment plans, urging continued research to overcome the current limitations and refine diagnostic criteria within this field.

Indexed as

Cerebral palsyDifferential diagnosisGenetic testingNeurodevelopmental disorder

Identifiers

PMID39736497
PMCPMC11703604

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Registered trials

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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 OpenQuestion graph.