Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

Zhao, Yingjie; Guo, Tingwei; Fiksinski, Ania; Breetvelt, Elemi J.; McDonald‐McGinn, Donna M.; Crowley, T. Blaine; Diacou, Alexander; Schneider, Maude; Eliez, Stéphan; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris Robert; Chow, Eva W.C.; Gothelf, Doron; Duijff, Sasja N.; Evers, Rens; Amelsvoort, Thérèse A. van; Bree, Marianne Bernadette van den; Niarchou, Maria; Bearden, Carrie E.; Ornstein, Claudia; Pontillo, Maria; Buzzanca, Antonino; Vicari, Stefano; Armando, Marco; Murphy, Kieran C.; Murphy, Clodagh; García‐Miñaúr, Sixto; Philip, Nicole; Campbell, Linda E.; Morey‐Cañellas, Jaume; Raventos, Jasna; Rosell, Jordi; Heine-Suñer, Damián; Shprintzen, Robert J.; Gur, Raquel E.; Zackai, Elaine H.; Emanuel, Beverly S.; Wang, Tao; Kates, Wendy R.; Bassett, Anne S.; Vorstman, Jacob; Morrow, Bernice E.

doi:10.1002/ajmg.a.40359

Cited by 37 publications

(44 citation statements)

References 62 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Além do risco bem estabelecido para a esquizofrenia, os indivíduos com SD22q11.2, apresentam chances aumentadas de diversas condições neuropsiquiátricas desde a primeira infância (Fiksinski et al, 2018).…”

Section: Aspectos Psiquiátricosunclassified

“…Em um recente estudo, foram comparadas amostras de crianças e adolescentes entre 13 e 17 anos de idade com SD22q11.2 a amostras de jovens com Deficiência Intelectual (DI) idiopática com o mesmo perfil etário e população com desenvolvimento típico (Fiksinski et al 2018). Segundo os resultados, a prevalência de fenótipos psiquiátricos no grupo com a síndrome, tais como ansiedade, TEA, TDAH e transtornos de humor, excedem claramente o observado nos indivíduos com DI idiopática.…”

Section: Aspectos Psiquiátricosunclassified

“…Segundo os resultados, a prevalência de fenótipos psiquiátricos no grupo com a síndrome, tais como ansiedade, TEA, TDAH e transtornos de humor, excedem claramente o observado nos indivíduos com DI idiopática. Também foram relatados transtornos psicóticos em 10% dos jovens (Fiksinski et al, 2018). Quando pareados com indivíduos típicos sem a síndrome, os distúrbios psicóticos em jovens com SD22q11.2 são muito mais frequentes (Fung et al, 2010).…”

Section: Aspectos Psiquiátricosunclassified

“…These findings indicate that a comprehensive assessment of aspects of neurocognitive and behavioral functioning may contribute to a broader understanding of the neurocognitive phenotype associated to SD22q11.2. (Zhao, et al, 2018). Ela é causada por uma deleção submicroscópica do braço longo do cromossomo 22, que envolve haploinsuficiência de 50 genes resultantes em uma desordem multissistêmica.…”

unclassified

“…Ela é causada por uma deleção submicroscópica do braço longo do cromossomo 22, que envolve haploinsuficiência de 50 genes resultantes em uma desordem multissistêmica. Estima-se que afete aproximadamente 1:2.000 a 1:4.000 nacidos vivos (Zhao et al, 2018;McDonald-McGinn et al, 1999;McDonald-McGinn et al, 2015).…”

unclassified

See 4 more Smart Citations

Avaliação do fenótipo neurocognitivo e comportamental da síndrome da deleção 22q11.2

Pimenta¹

View full text Add to dashboard Cite

Section: Aspectos Psiquiátricosunclassified

unclassified

See 3 more Smart Citations

Avaliação do fenótipo neurocognitivo e comportamental da síndrome da deleção 22q11.2

Pimenta¹

View full text Add to dashboard Cite

Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome

et al. 2021

Self Cite

View full text Add to dashboard Cite

Intelligence quotient (IQ) testing is standard for evaluating cognitive abilities in genomic studies but requires professional expertise in administration and interpretation, and IQ scores do not translate into insights on implicated brain systems that can link genes to behavior. Individuals with 22q11.2 deletion syndrome (22q11.2DS) often undergo IQ testing to address special needs, but access to testing in resourcelimited settings is challenging. The brief Penn Computerized Neurocognitive Battery (CNB) provides measures of cognitive abilities related to brain systems and can screen for cognitive dysfunction. To examine the relation between CNB measures and IQ, we evaluated participants with the 22q11.2DS from Philadelphia and Tel Aviv (N = 117; 52 females; mean age 18.8) who performed both an IQ test and the CNB with a maximum of 5 years between administrations and a subsample (n = 24) who had both IQ and CNB assessments at two time points. We estimated domain-level CNB scores using exploratory factor analysis (including bifactor for overall scores) and related those scores (intraclass correlations (ICCs)) to the IQ scores. We found that the overall CNB accuracy score showed similar correlations between time 1 and time 2 as IQ (0.775 for IQ and 0.721 for CNB accuracy), correlated well with the IQ scores (ICC = 0.565 and 0.593 for time 1 and time 2, respectively), and correlated similarly with adaptive functioning (0.165 and 0.172 for IQ and CNB, respectively). We provide a crosswalk (from linear equating) between standardized CNB and IQ scores. Results suggest that one can substitute the CNB for IQ testing in future genetic studies that aim to probe specific domains of brain-behavior relations beyond IQ.This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

show abstract

Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome

Ge,

Ching,

Bassett

et al. 2024

Human Brain Mapping

Self Cite

View full text Add to dashboard Cite

Abstract22q11.2 deletion syndrome (22q11DS) is the most frequently occurring microdeletion in humans. It is associated with a significant impact on brain structure, including prominent reductions in gray matter volume (GMV), and neuropsychiatric manifestations, including cognitive impairment and psychosis. It is unclear whether GMV alterations in 22q11DS occur according to distinct structural patterns. Then, 783 participants (470 with 22q11DS: 51% females, mean age [SD] 18.2 [9.2]; and 313 typically developing [TD] controls: 46% females, mean age 18.0 [8.6]) from 13 datasets were included in the present study. We segmented structural T1‐weighted brain MRI scans and extracted GMV images, which were then utilized in a novel source‐based morphometry (SBM) pipeline (SS‐Detect) to generate structural brain patterns (SBPs) that capture co‐varying GMV. We investigated the impact of the 22q11.2 deletion, deletion size, intelligence quotient, and psychosis on the SBPs. Seventeen GMV‐SBPs were derived, which provided spatial patterns of GMV covariance associated with a quantitative metric (i.e., loading score) for analysis. Patterns of topographically widespread differences in GMV covariance, including the cerebellum, discriminated individuals with 22q11DS from healthy controls. The spatial extents of the SBPs that revealed disparities between individuals with 22q11DS and controls were consistent with the findings of the univariate voxel‐based morphometry analysis. Larger deletion size was associated with significantly lower GMV in frontal and occipital SBPs; however, history of psychosis did not show a strong relationship with these covariance patterns. 22q11DS is associated with distinct structural abnormalities captured by topographical GMV covariance patterns that include the cerebellum. Findings indicate that structural anomalies in 22q11DS manifest in a nonrandom manner and in distinct covarying anatomical patterns, rather than a diffuse global process. These SBP abnormalities converge with previously reported cortical surface area abnormalities, suggesting disturbances of early neurodevelopment as the most likely underlying mechanism.

show abstract

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

Cited by 37 publications

References 62 publications

Avaliação do fenótipo neurocognitivo e comportamental da síndrome da deleção 22q11.2

Avaliação do fenótipo neurocognitivo e comportamental da síndrome da deleção 22q11.2

Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome

Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome

Contact Info

Product

Resources

About