Evidence map›Paper›PMID 38790224›Full record

ArticleGenes2024

Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables.

Larissa Salustiano Evangelista Pimenta, Claudia Berlim de Mello, Luciana Mello Di Benedetto, Diogo Cordeiro de Queiroz Soares, Leslie Domenici Kulikowski, Anelisa Gollo Dantas, Maria Isabel Melaragno, Chong Ae Kim

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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.

Larissa Salustiano Evangelista PimentaGenetics Unit, Instituto da Criança, Faculdade de Medicina, Universidade de São Paulo, São Paulo 05403-000, Brazil.
Claudia Berlim de MelloDepartament of Psychobiology, Universidade Federal de São Paulo, São Paulo 04024-002, Brazil.
Luciana Mello Di BenedettoDepartament of Psychobiology, Universidade Federal de São Paulo, São Paulo 04024-002, Brazil.
Diogo Cordeiro de Queiroz SoaresGenetics Unit, Instituto da Criança, Faculdade de Medicina, Universidade de São Paulo, São Paulo 05403-000, Brazil.ORCID 0000-0002-6589-2367
Leslie Domenici KulikowskiGenetics Unit, Instituto da Criança, Faculdade de Medicina, Universidade de São Paulo, São Paulo 05403-000, Brazil.ORCID 0000-0003-2236-3956
Anelisa Gollo DantasGenetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo 04023-062, Brazil.
Maria Isabel MelaragnoGenetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo 04023-062, Brazil.
Chong Ae KimGenetics Unit, Instituto da Criança, Faculdade de Medicina, Universidade de São Paulo, São Paulo 05403-000, Brazil.ORCID 0000-0002-1754-1300

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The 22q11.2 deletion syndrome (22q11.2DS) is associated with a heterogeneous neurocognitive phenotype, which includes psychiatric disorders. However, few studies have investigated the influence of socioeconomic variables on intellectual variability. The aim of this study was to investigate the cognitive profile of 25 patients, aged 7 to 32 years, with a typical ≈3 Mb 22q11.2 deletion, considering intellectual, adaptive, and neuropsychological functioning. Univariate linear regression analysis explored the influence of socioeconomic variables on intellectual quotient (IQ) and global adaptive behavior. Associations with relevant clinical conditions such as seizures, recurrent infections, and heart diseases were also considered. Results showed IQ scores ranging from 42 to 104. Communication, executive functions, attention, and visuoconstructive skills were the most impaired in the sample. The study found effects of access to quality education, family socioeconomic status (SES), and caregiver education level on IQ. Conversely, age at diagnosis and language delay were associated with outcomes in adaptive behavior. This characterization may be useful for better understanding the influence of social-environmental factors on the development of patients with 22q11.2 deletion syndrome, as well as for intervention processes aimed at improving their quality of life.

Indexed as

DiGeorge SyndromeAdolescentAdultBrazilChildFemaleHumansIntelligenceMaleNeuropsychological TestsQuality of LifeSocial ClassSocioeconomic FactorsYoung Adult22q11.2 deletion syndromemental disordersneuropsychological disordersSESsocio-environmental factors phenotype

Identifiers

PMID38790224
PMCPMC11121403

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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.