Evidence map›Paper›PMID 40451248›Full record

Observational studyJornal de pediatria

Genotype-phenotype correlation of neurodevelopmental disorders in patients with dystrophinopathies.

Fabrício M Soares, Bruna F Rosa, Gabriela M Giordani, Daniele L Rocha, Ana Carolina Brusius-Facchin, Michele M Becker, Jonas Alex M Saute

Abstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Jornal de pediatria. 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. Duchenne Muscular Dystrophy Under Three Years of Age.Children (Basel, Switzerland) · 2026
    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

7 authors.

Fabrício M SoaresUniversidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Medicina: Ciências Médicas, Porto Alegre, RS, Brazil.
Bruna F RosaHospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.
Gabriela M GiordaniUniversidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Medicina: Ciências Médicas, Porto Alegre, RS, Brazil.
Daniele L RochaUniversidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Medicina: Ciências Médicas, Porto Alegre, RS, Brazil.
Ana Carolina Brusius-FacchinHospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.
Michele M BeckerHospital de Clínicas de Porto Alegre, Unidade de Neurologia Infantil, Porto Alegre, RS, Brazil.
Jonas Alex M SauteUniversidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Medicina: Ciências Médicas, Porto Alegre, RS, Brazil; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil; Hospital de Clínicas de Porto Alegre, Serviço de Neurologia, Porto Alegre, RS, Brazil; Universidade Federal do Rio Grande do Sul, Departamento de Medicina Interna, Porto Alegre, RS, Brazil. Electronic address: jsaute@hcpa.edu.br.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveNeurodevelopmental disorders are frequently and heterogeneously diagnosed among patients with dystrophinopathies. The authors aimed to evaluate how the symptoms of Attention-Deficit/Hyperactivity Disorder (ADHD), Obsessive-Compulsive Disorder (OCD), or Autism Spectrum Disorder (ASD), and genotype are related to DMD genotype.

methodsIn an observational cross-sectional study, standardized instruments were applied to 50 participants and their caregivers, mainly from a reference center for rare diseases in Southern Brazil (n = 38) or other Brazilian centers (n = 12). Participants were divided according to genotype and affected dystrophin isoforms.

resultsThe overall diagnostic rate of symptoms of ASD was 34 %, similar to OCD (35.5 %), with half of the participants (51.4 %) having symptoms compatible with ADHD. Cerebral isoforms were affected in more than half of the participants (52 %). Symptoms compatible with ASD and OCD, and Childhood Autism Rating Scale (CARS) scores were associated with genotype and impairment of cerebral isoforms of dystrophin.

conclusionsThe prevalence of symptoms compatible with ASD (and higher CARS scores) and OCD among patients with dystrophinopathies are related to the position of the causal variant in DMD and the consequent involvement of cerebral isoforms, indicating an important genotype-phenotype correlation. The diagnosis of a patient with a genotype that affects these isoforms indicates the need for neuropsychological assessment and multidisciplinary follow-up.

Indexed as

Attention Deficit Disorder with HyperactivityAutism Spectrum DisorderDystrophinMuscular Dystrophy, DuchenneNeurodevelopmental DisordersObsessive-Compulsive DisorderAdolescentAdultBrazilChildChild, PreschoolCross-Sectional StudiesFemaleGenetic Association StudiesGenotypeHumansDystrophinAttention-deficit/hyperactivity disorderAutism spectrum disorderDystrophin isoformsDystrophinopathiesGenotype-phenotype correlationObsessive-compulsive disorder

Identifiers

PMID40451248
PMCPMC12276596

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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.