ArticleNeuropsychopharmacology : official publication of the American College of Neuropsychopharmacology2022
A normative chart for cognitive development in a genetically selected population.
Article in Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed.
- Multicenter retrospective study on perceived effectiveness, reported side effects, and cognitive outcomes of SSRIs in 22q11.2 deletion syndrome.European child & adolescent psychiatry · 2026Article
- Multicenter retrospective study on effectiveness, reported side effects, and cognitive outcomes of SSRIs in 22q11.2 deletion syndrome.Research square · 2025Article
- Mapping EEG Metrics to Human Affective and Cognitive Models: An Interdisciplinary Scoping Review from a Cognitive Neuroscience Perspective.Biomimetics (Basel, Switzerland) · 2025Review
- 22q11.2 Deletion Syndrome: Cognitive, Visuomotor, and Adaptive Functioning Followed Longitudinally.Brain and behavior · 2025Article
- Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications.Molecular psychiatry · 2025Article
- Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 deletion syndrome.Psychiatry research · 2025Article
- Driving Innovation to Support Pupils with SEND Through Co-Production in Education and Research: Participatory Action Research with 22q11.2 Deletion Syndrome Families in England.Behavioral sciences (Basel, Switzerland) · 2024Article
- The clinical course of individuals with 22q11.2 deletion syndrome converting to psychotic disorders: a long-term retrospective follow-up.European child & adolescent psychiatry · 2024Article
- Cognitive, adaptive and daily life functioning in adults with 22q11.2 deletion syndrome.BJPsych open · 2024Article
- Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome.Metabolomics : Official journal of the Metabolomic Society · 2024Article
- Associations between acute and chronic lifetime stressors and psychosis-risk symptoms in individuals with 22q11.2 copy number variants.Psychological medicine · 2023Article
- Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions.JCPP advances · 2023Article
- Article
- Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome.Translational psychiatry · 2022Article
- Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome.Current psychiatry reports · 2021Review
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37 authors.
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Abstract
Certain pathogenic genetic variants impact neurodevelopment and cause deviations from typical cognitive trajectories. Understanding variant-specific cognitive trajectories is clinically important for informed monitoring and identifying patients at risk for comorbid conditions. Here, we demonstrate a variant-specific normative chart for cognitive development for individuals with 22q11.2 deletion syndrome (22q11DS). We used IQ data from 1365 individuals with 22q11DS to construct variant-specific normative charts for cognitive development (Full Scale, Verbal, and Performance IQ). This allowed us to calculate Z-scores for each IQ datapoint. Then, we calculated the change between first and last available IQ assessments (delta Z-IQ-scores) for each individual with longitudinal IQ data (n = 708). We subsequently investigated whether using the variant-specific IQ-Z-scores would decrease required sample size to detect an effect with schizophrenia risk, as compared to standard IQ-scores. The mean Z-IQ-scores for FSIQ, VIQ, and PIQ were close to 0, indicating that participants had IQ-scores as predicted by the normative chart. The mean delta-Z-IQ-scores were equally close to 0, demonstrating a good fit of the normative chart and indicating that, as a group, individuals with 22q11DS show a decline in IQ-scores as they grow into adulthood. Using variant-specific IQ-Z-scores resulted in 30% decrease of required sample size, as compared to the standard IQ-based approach, to detect the association between IQ-decline and schizophrenia (p < 0.01). Our findings suggest that using variant-specific normative IQ data significantly reduces required sample size in a research context, and may facilitate a more clinically informative interpretation of IQ data. This approach allows identification of individuals that deviate from their expected, variant-specific, trajectory. This group may be at increased risk for comorbid conditions, such as schizophrenia in the case of 22q11DS.
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