A normative chart for cognitive development in a genetically selected population.
Journal
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology
ISSN: 1740-634X
Titre abrégé: Neuropsychopharmacology
Pays: England
ID NLM: 8904907
Informations de publication
Date de publication:
06 2022
06 2022
Historique:
received:
14
07
2020
accepted:
30
01
2021
revised:
12
01
2021
pubmed:
31
3
2021
medline:
21
5
2022
entrez:
30
3
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33782512
doi: 10.1038/s41386-021-00988-6
pii: 10.1038/s41386-021-00988-6
pmc: PMC9117666
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1379-1386Subventions
Organisme : NIMH NIH HHS
ID : U01 MH119736
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH119758
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH119738
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD105352
Pays : United States
Organisme : Medical Research Council
ID : MR/L010305/1
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : R01 MH085953
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH119740
Pays : United States
Informations de copyright
© 2021. The Author(s), under exclusive licence to American College of Neuropsychopharmacology.
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