The interaction between neurocognitive functioning, subthreshold psychotic symptoms and pharmacotherapy in 22q11.2 deletion syndrome: A longitudinal comparative study
Open accessAbstract
Background: The 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. In addition, we attempted to identify the specific neurocognitive domains that predict the longitudinal evolution of positive and negative SPS, as well as the effect of psychiatric medications on 22q11DS psychiatric and cognitive developmental trajectories. Methods: Forty-four participants with 22q11DS, 19 with Williams syndrome (WS) and 30 typically developing (TD) controls, age range 12–35 years, were assessed at two time points (15.2 ± 2.1 months apart). Evaluation included the Structured Interview for Prodromal Symptoms (SIPS), structured psychiatric evaluation and the Penn Computerized Neurocognitive Battery (CNB). Results: 22q11DS individuals with SPS had a yearly conversion rate to psychotic disorders of 8.8%, compared to none in both WS and TD controls. Baseline levels of negative SPS were associated with global neurocognitive performance (GNP), executive function and social cognition deficits, in individuals with 22q11DS, but not in WS. Deficits in GNP predicted negative SPS in 22q11DS and the emergence or persistence of negative SPS. 22q11DS individuals treated with psychiatric medications showed significant improvement in GNP score between baseline and follow-up assessments, an improvement that was not seen in untreated 22q11DS. Conclusions: Our results highlight the time-dependent interplay among positive and negative SPS symptoms, neurocognition and pharmacotherapy in the prediction of the evolution of psychosis in 22q11DS.
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Global Neurocognitive Performance (GNP) scores were associated with the presence of negative SPS at follow-up.
“In particolare, è stato riscontrato che i punteggi di Global Neurocognitive Performance (GNP) erano associati alla presenza di SPS negativi al follow-up.”
From Percorso psichiatrico e psicologico per una giovane donna con sindrome da delezione del cromosoma 22 e disabilità intellettiva: un buon outcome (2020) · cites this paper as [20]
Subjects affected by 22q11.2DS who underwent psychopharmacological therapy showed significant improvements in global cognitive functioning compared to subjects not in treatment.
“Inoltre, è stato verificato che i soggetti affetti da 22q11.2DS sottoposti a terapia psicofarmacologica mostravano miglioramenti significativi nel funzionamento cognitivo globale rispetto ai soggetti non in trattamento.”
From Percorso psichiatrico e psicologico per una giovane donna con sindrome da delezione del cromosoma 22 e disabilità intellettiva: un buon outcome (2020) · cites this paper as [20]
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Ultra high risk status and transition to psychosis in 22q11.2 deletion syndrome
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Sorted by citations
Santambrogio, J., Colmegna, F., Di Brita, C., Merra, A., Bertelli, M. O., & Clerici, M. (2020) · Rivista di Psichiatria · doi:10.1708/3333.33025 · Cited by 4 · see citing works
- Authors
- Weinberger, R., Weisman, O., Guri, Y., Harel, T., Weizman, A., & Gothelf, D.
- Affiliations
- Tel Aviv University (IL)
- Sheba Medical Center (IL)
- Corresponding author
- Gothelf, D.
- Venue
- European Psychiatry
- Publisher
- Cambridge University Press (CUP)
- Published
- 2018
- Volume
- 48
- Issue
- 1
- Pages
- 20-26
- ISSN
- 0924-9338 (ISSN-L)
- 1778-3585
- OpenAlex
- W2784306974
- Cited by
- 14
- References
- 1
- Citations by year
- 2026: 3 · 2024: 1 · 2023: 3 · 2021: 5 · 2019: 1 · 2018: 1
- FWCI
- 1.38
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- European Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Mental Health (U01MH101722)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- 22q11.2 deletion syndrome, Williams syndrome, subthreshold psychotic symptoms, prodromal psychosis, transition to psychosis, neurocognitive function, executive function, social cognition, negative psychotic symptoms, positive psychotic symptoms, antipsychotic pharmacotherapy, schizophrenia risk, cognitive development
- MeSH terms
- Adolescent, Adult, Child, Cognition, DiGeorge Syndrome, Female, Humans, Longitudinal Studies, Male, Psychotic Disorders, Schizophrenia, Social Behavior, Antipsychotic Agents, Williams Syndrome, Young Adult, Executive Function, Prodromal Symptoms
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