Beyond IQ: executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome.

Autor:	Pollak RM; Center for Advanced Biotechnology and Medicine, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ, USA., Sefik E; Princeton Neuroscience Institute, Princeton University, Princeton, NJ, USA., Aberizk K; Department of Psychology, Emory University, Atlanta, GA, USA., Duan K; Marcus Autism Center, Children's Healthcare of Atlanta & Emory University School of Medicine, Atlanta, GA, USA., Espana R; Department of Psychology, Emory University, Atlanta, GA, USA., Guest RM; Department of Psychology, Emory University, Atlanta, GA, USA., Goldman-Yassen AE; Department of Radiology and Imaging Sciences, Emory University School of Medicine, Atlanta, GA, USA.; Department of Radiology, Children's Healthcare of Atlanta, Atlanta, GA, USA., Goines K; Department of Psychology, Emory University, Atlanta, GA, USA., Novacek DM; Desert Pacific Mental Illness Research, Education, and Clinical Center, VA Greater Los Angeles Healthcare System, Los Angeles, CA, USA.; Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA, USA., Saulnier CA; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Neurodevelopmental Assessment & Consulting Services, Decatur, GA, USA., Klaiman C; Marcus Autism Center, Children's Healthcare of Atlanta & Emory University School of Medicine, Atlanta, GA, USA.; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA., Pulver S; Marcus Autism Center, Children's Healthcare of Atlanta & Emory University School of Medicine, Atlanta, GA, USA.; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA., Cubells JF; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.; Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Atlanta, GA, USA., Burrell TL; Atlanta Children's Center, Atlanta, GA, USA., Shultz S; Marcus Autism Center, Children's Healthcare of Atlanta & Emory University School of Medicine, Atlanta, GA, USA.; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA., Walker EF; Department of Psychology, Emory University, Atlanta, GA, USA., Murphy MM; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA., Mulle JG; Center for Advanced Biotechnology and Medicine, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ, USA.; Department of Psychiatry, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ, USA.
Jazyk:	angličtina
Zdroj:	Psychological medicine [Psychol Med] 2024 Oct 04, pp. 1-12. Date of Electronic Publication: 2024 Oct 04.
DOI:	10.1017/S0033291724002320
Abstrakt:	Background: 3q29 deletion syndrome (3q29del) is a rare (~1:30 000) genomic disorder associated with a wide array of neurodevelopmental and psychiatric phenotypes. Prior work by our team identified clinically significant executive function (EF) deficits in 47% of individuals with 3q29del; however, the nuances of EF in this population have not been described. Methods: We used the Behavior Rating Inventory of Executive Function (BRIEF) to perform the first in-depth assessment of real-world EF in a cohort of 32 individuals with 3q29del (62.5% male, mean age = 14.5 ± 8.3 years). All participants were also evaluated with gold-standard neuropsychiatric and cognitive assessments. High-resolution structural magnetic resonance imaging was performed on a subset of participants ( n = 24). Results: We found global deficits in EF; individuals with 3q29del scored higher than the population mean on the BRIEF global executive composite (GEC) and all subscales. In total, 81.3% of study subjects ( n = 26) scored in the clinical range on at least one BRIEF subscale. BRIEF GEC T scores were higher among 3q29del participants with a diagnosis of attention deficit/hyperactivity disorder (ADHD), and BRIEF GEC T scores were associated with schizophrenia spectrum symptoms as measured by the Structured Interview for Psychosis-Risk Syndromes. BRIEF GEC T scores were not associated with cognitive ability. The BRIEF-2 ADHD form accurately (sensitivity = 86.7%) classified individuals with 3q29del based on ADHD diagnosis status. BRIEF GEC T scores were correlated with cerebellar white matter and subregional cerebellar cortex volumes. Conclusions: Together, these data expand our understanding of the phenotypic spectrum of 3q29del and identify EF as a core feature linked to both psychiatric and neuroanatomical features of the syndrome.
Databáze:	MEDLINE
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