Evidence map›Paper›PMID 39614621›Full record

ArticleJournal of intellectual disability research : JIDR2025

Real-Life Functioning in 22q11.2 Deletion Syndrome in Relation to Neurocognitive Abilities and Psychotic Symptoms: A Comparison With Idiopathic Schizophrenia.

Tommaso Accinni, Marianna Frascarelli, Pierluigi Cordellieri, Georgios D Kotzalidis, Martina Fanella, Carlo Di Bonaventura, Carolina Putotto, Bruno Marino, Paola Bucci, Luigi Giuliani and 5 more

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

Article in Journal of intellectual disability research : JIDR, 2025. 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. Neurocognitive and Socio-Emotional Profile of Children with 22q11.2 Deletion Syndrome: Executive Functions, Social Processing Deficits and Clinical Implications.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2026
    Review
  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

15 authors.

Tommaso AccinniDepartment of Human Neurosciences, Faculty of Medicine and Dentistry, Sapienza University of Rome, Rome, Italy.ORCID 0000-0002-3092-6475
Marianna FrascarelliDepartment of Human Neurosciences, Faculty of Medicine and Dentistry, Sapienza University of Rome, Rome, Italy.
Pierluigi CordellieriDepartment of Psychology, Sapienza University of Rome, Rome, Italy.
Georgios D KotzalidisDepartment of Neurosciences, Mental Health, and Sensory Organs, Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.
Martina FanellaDepartment of Human Neurosciences, Faculty of Medicine and Dentistry, Sapienza University of Rome, Rome, Italy.
Carlo Di BonaventuraDepartment of Human Neurosciences, Faculty of Medicine and Dentistry, Sapienza University of Rome, Rome, Italy.
Carolina PutottoDepartment of Pediatrics, Obstetrics, and Gynecology, Sapienza University of Rome, Rome, Italy.
Bruno MarinoDepartment of Pediatrics, Obstetrics, and Gynecology, Sapienza University of Rome, Rome, Italy.
Paola BucciDepartment of Psychiatry, University of Campania "Luigi Vanvitelli", Naples, Italy.
Luigi GiulianiDepartment of Psychiatry, University of Campania "Luigi Vanvitelli", Naples, Italy.
Annalisa MaraoneDepartment of Human Neurosciences, Faculty of Medicine and Dentistry, Sapienza University of Rome, Rome, Italy.
Massimo PasquiniDepartment of Human Neurosciences, Faculty of Medicine and Dentistry, Sapienza University of Rome, Rome, Italy.
Fabio Di FabioDepartment of Human Neurosciences, Faculty of Medicine and Dentistry, Sapienza University of Rome, Rome, Italy.
Antonino BuzzancaDepartment of Human Neurosciences, Faculty of Medicine and Dentistry, Sapienza University of Rome, Rome, Italy.
Italian Network for Research on Psychoses

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe 22q11.2 deletion syndrome (22q11.2DS) entails intellectual disabilities and higher risk of psychotic disorders. Neurocognitive deficits predict real-life functioning of schizophrenic patients. We investigated real-life functioning in 22q11.2DS, aiming at defining how neurocognitive profile and psychopathological variables impact on psychotic patients' social functioning.

methodsWe recruited 63 patients with schizophrenia (SCZ, N = 63), 44 with 22q11.2DS (DEL, N = 44) and 19 with 22q11.2DS and psychosis (DEL-SCZ, N = 19), all matched for age, sex and neurocognitive profile; we administered the Positive and Negative Syndrome Scale (PANSS), the Brief Negative Symptom Scale (BNSS), the Specific Levels of Functioning (SLoF) scale and the Measurement and Treatment Research to Improve Cognition in Schizophrenia Consensus Cognitive Battery (MCCB). We implemented descriptive analyses, MANCOVA and linear regression statistics.

resultsThe DEL-SCZ and the SCZ groups showed similar levels in Interpersonal Relationships (p = 0.093) and Social Acceptability subscales (p = 0.283). The DEL group scored higher on the Interpersonal Relationships subscale compared with the SCZ group (p = 0.001). The groups scored similarly on the other SLoF subscales. Both BNSS total score (beta = -0.343; p = 0.004) and BNSS asociality (beta = -0.487; p = 0.038) significantly predicted the Interpersonal Relationships variable in the groups with psychosis (SCZ and DEL-SCZ). DISCUSSION AND

conclusionsIndividuals with 22q11.2DS display a similar real-life functioning to patients with chronic schizophrenia. Social functioning impairments are typical of psychosis regardless of the genetic condition and highly predicted by negative symptoms like asociality. The 22q11.2DS represents a reliable biological model to study vulnerability to psychosis and its consequences on patients' real-life and social functioning.

Indexed as

Cognitive DysfunctionDiGeorge SyndromeInterpersonal RelationsPsychotic DisordersSchizophreniaAdolescentAdultFemaleHumansMaleMiddle AgedYoung Adult22q11.2 deletion syndromeneurocognitionpsychosisreal‐life functioningschizophreniasocial functioning

Identifiers

PMID39614621
PMCPMC11791388

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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.