Evidence map›Paper›PMID 41483429›Full record

ReviewCurrent neurology and neuroscience reports2026

Advances in Genetic Discoveries in Cerebral Palsy: Implications for Diagnosis, Prognosis, and Counseling.

Juan Darío Ortigoza-Escobar

Abstract readReview
PubMed Publisher
In one paragraph

Review in Current neurology and neuroscience reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

1 author.

Juan Darío Ortigoza-EscobarMovement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain. juandario.ortigoza@sjd.es.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purpose of reviewThis review examines the expanding role of genetic factors in cerebral palsy (CP), with a focus on cryptogenic presentations and CP-masquerading conditions. It addresses how genomic insights refine diagnosis, guide management, and influence counseling. RECENT

findingsEmerging evidence demonstrates that de novo single-nucleotide variants, copy number variants, mitochondrial variants, and, rarely, repeat expansions contribute significantly to CP, particularly when neuroimaging is normal, progression is atypical, or additional neurodevelopmental features are present. Diagnostic yield is highest in these contexts. Trio-based whole-exome sequencing is recommended as first-line testing, supported by chromosomal microarray or whole-genome sequencing. Integration of genomic testing remains limited by inconsistent CP definitions, restricted test access, and under-recognition of genetic etiologies, especially in adults. Standardized CP classification frameworks, such as SCPE (Surveillance of Cerebral Palsy in Europe), combined with early genomic evaluation, can improve diagnostic accuracy, reveal treatable conditions, and enable precision care. This approach has potential to transform management and outcomes across the lifespan.

Indexed as

Cerebral PalsyCounselingGenetic CounselingGenetic TestingHumansPrognosisCerebral palsyCopy number variantsGenetic testingPediatric neurologyTreatmentWhole-exome sequencing

Identifiers

What OpenQuestion holds

Textmetadata
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.