Abstract
BACKGROUND:
Carriers of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants exhibit regional and global
brain differences compared with noncarriers. However, interpreting regional differences is challenging if a global
difference drives the regional brain differences. Intraindividual variability measures can be used to test for regional
differences beyond global differences in brain structure.
METHODS:
Magnetic resonance imaging data were used to obtain regional brain values for 1q21.1 distal deletion (n =
30) and duplication (n = 27) and 15q11.2 BP1-BP2 deletion (n = 170) and duplication (n = 243) carriers and matched
noncarriers (n = 2350). Regional intra-deviation scores, i.e., the standardized difference between an individual’s
regional difference and global difference, were used to test for regional differences that diverge from the global
difference.
RESULTS:
For the 1q21.1 distal deletion carriers, cortical surface area for regions in the medial visual cortex, posterior cingulate, and temporal pole differed less and regions in the prefrontal and superior temporal cortex differed
more than the global difference in cortical surface area. For the 15q11.2 BP1-BP2 deletion carriers, cortical thickness
in regions in the medial visual cortex, auditory cortex, and temporal pole differed less and the prefrontal and
somatosensory cortex differed more than the global difference in cortical thickness.
CONCLUSIONS:
We find evidence for regional effects beyond differences in global brain measures in 1q21.1 distal
and 15q11.2 BP1-BP2 copy number variants. The results provide new insight into brain profiling of the 1q21.1 distal
and 15q11.2 BP1-BP2 copy number variants, with the potential to increase understanding of the mechanisms
involved in altered neurodevelopment.
Carriers of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants exhibit regional and global
brain differences compared with noncarriers. However, interpreting regional differences is challenging if a global
difference drives the regional brain differences. Intraindividual variability measures can be used to test for regional
differences beyond global differences in brain structure.
METHODS:
Magnetic resonance imaging data were used to obtain regional brain values for 1q21.1 distal deletion (n =
30) and duplication (n = 27) and 15q11.2 BP1-BP2 deletion (n = 170) and duplication (n = 243) carriers and matched
noncarriers (n = 2350). Regional intra-deviation scores, i.e., the standardized difference between an individual’s
regional difference and global difference, were used to test for regional differences that diverge from the global
difference.
RESULTS:
For the 1q21.1 distal deletion carriers, cortical surface area for regions in the medial visual cortex, posterior cingulate, and temporal pole differed less and regions in the prefrontal and superior temporal cortex differed
more than the global difference in cortical surface area. For the 15q11.2 BP1-BP2 deletion carriers, cortical thickness
in regions in the medial visual cortex, auditory cortex, and temporal pole differed less and the prefrontal and
somatosensory cortex differed more than the global difference in cortical thickness.
CONCLUSIONS:
We find evidence for regional effects beyond differences in global brain measures in 1q21.1 distal
and 15q11.2 BP1-BP2 copy number variants. The results provide new insight into brain profiling of the 1q21.1 distal
and 15q11.2 BP1-BP2 copy number variants, with the potential to increase understanding of the mechanisms
involved in altered neurodevelopment.
| Original language | English |
|---|---|
| Pages (from-to) | 147-160 |
| Number of pages | 14 |
| Journal | Biological Psychiatry |
| Volume | 95 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 15 Jan 2024 |
Bibliographical note
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