Abstract:Objective
The transition from childhood to adulthood is characterized by improved motor and cognitive performance in many domains. Developmental studies focus on average performance in single domains but ignore consistency of performance across domains. Within-individual variability (WIV) provides an index of that evenness and is a potential marker of development.
Method
We gave a computerized battery of 14 neurocognitive tests to 9138 youths ages 8-21 from the Philadelphia Neurodevelopmental Cohort.
Resul… Show more
“…In addition, the Global Assessment of Functioning (GAF) (Hall, 1995) scale was administered to assess overall daily functioning and the Penn Computerized Neurocognitive Battery(CNB(Gur et al, 2001) examined neurocognitive functioning. CNB performance in 22q11DS has previously been reported(Gur et al, 2014) and here we present overall performance accuracy, speed and variability (Roalf et al, 2013a; Roalf et al, 2014). …”
Diffusion tensor imaging (DTI) studies in 22q11.2 Deletion Syndrome (22q11DS), a neurogenetic condition associated with psychosis, report brain white matter (WM) microstructure aberrations. Several studies report that WM disruptions in 22q11DS are similar to deficits in idiopathic schizophrenia. Yet, DTI results in 22q11DS are inconsistent. We used DTI to compare WM structure in 22q11DS individuals to healthy controls (HC) and explored WM differences in 22q11DS with (+) and without (−) psychosis spectrum symptoms. We examined 39 22q11DS individuals and 39 age, sex and race equivalent HC. DTI was performed at 3T using a 64-direction protocol. Fractional anisotropy (FA) was lower, while radial diffusivity was higher in 22q11DS within the cingulum bundle. Mean diffusivity was lower in the inferior longitudinal fasciculus, while axial diffusivity (AD) was lower in the cingulum bundle, forceps major, and several posterior to anterior fasciculi. 22q11DS+ had lower FA in the cingulum bundle and lower AD in the uncinate fasciculus compared to 22q11DS−. Overall, we found aberrant WM microstructure in individuals with 22q11DS compared to age and sex matched HC and exploratory analysis indicated subtle WM deficits associated with psychosis. The findings highlight the dysfunction of WM microstructure in 22q11DS and its potential importance in elucidating WM abnormalities in psychosis.
“…In addition, the Global Assessment of Functioning (GAF) (Hall, 1995) scale was administered to assess overall daily functioning and the Penn Computerized Neurocognitive Battery(CNB(Gur et al, 2001) examined neurocognitive functioning. CNB performance in 22q11DS has previously been reported(Gur et al, 2014) and here we present overall performance accuracy, speed and variability (Roalf et al, 2013a; Roalf et al, 2014). …”
Diffusion tensor imaging (DTI) studies in 22q11.2 Deletion Syndrome (22q11DS), a neurogenetic condition associated with psychosis, report brain white matter (WM) microstructure aberrations. Several studies report that WM disruptions in 22q11DS are similar to deficits in idiopathic schizophrenia. Yet, DTI results in 22q11DS are inconsistent. We used DTI to compare WM structure in 22q11DS individuals to healthy controls (HC) and explored WM differences in 22q11DS with (+) and without (−) psychosis spectrum symptoms. We examined 39 22q11DS individuals and 39 age, sex and race equivalent HC. DTI was performed at 3T using a 64-direction protocol. Fractional anisotropy (FA) was lower, while radial diffusivity was higher in 22q11DS within the cingulum bundle. Mean diffusivity was lower in the inferior longitudinal fasciculus, while axial diffusivity (AD) was lower in the cingulum bundle, forceps major, and several posterior to anterior fasciculi. 22q11DS+ had lower FA in the cingulum bundle and lower AD in the uncinate fasciculus compared to 22q11DS−. Overall, we found aberrant WM microstructure in individuals with 22q11DS compared to age and sex matched HC and exploratory analysis indicated subtle WM deficits associated with psychosis. The findings highlight the dysfunction of WM microstructure in 22q11DS and its potential importance in elucidating WM abnormalities in psychosis.
“…From this cohort, scores were collapsed in 2-year intervals to form the basis for the development of the z-scores. We selected 2-year intervals to ensure adequate numbers of participants within each age interval and to minimize the effect of normal variability in the rate of development of neurocognitive skills (21).…”
Background and objectives Neurocognitive problems in CKD are well documented; time-efficient methods are needed to assess neurocognition in this population. We performed the first study of the efficient 1-hour Penn Computerized Neurocognitive Battery (CNB) in children and young adults with CKD.Design, setting, participants, & measurements We administered the Penn CNB cross-sectionally to individuals aged 8-25 years with stage 2-5 CKD (n=92, enrolled from three academic nephrology practices from 2011 to 2014) and matched healthy controls (n=69). We analyzed results from 12 tests in four domains: executive control, episodic memory, complex cognition, and social cognition. All tests measure accuracy and speed; we converted raw scores to age-specific z-scores on the basis of Philadelphia Neurodevelopmental Cohort (n=1790) norms. We analyzed each test in a linear regression with accuracy and speed z-scores as dependent variables and with (1) CKD versus control or (2) eGFR as explanatory variables, adjusted for race, sex, and maternal education. Conclusions CKD is associated with lower accuracy in tests of complex cognition, attention, memory, and emotion identification, which related to eGFR. These findings are consistent with traditional neurocognitive testing in previous studies.
“…Future access to spatiotemporally comprehensive maps of molecular and cellular phenotypes in human cerebellar development (Miller et al, 2014) could potentially identify candidate genetic and/or histological underpinnings for the allometric norms that we define in the current report. Third, the distributive nature of cognitive functions and the complex topography of cerebellar connectivity with other brain regions (Buckner et al, 2011;Riedel et al, 2015) suggest that realistically appraising the relevance of our findings for sex and SCA effects on behavior will require the integration of systems-level information regarding the coordination of cerebellar changes with those throughout other brain regions Reardon et al, 2016).…”
Section: Limitations and Future Directionsmentioning
The cerebellum is a large hindbrain structure that is increasingly recognized for its contribution to diverse domains of cognitive and affective processing in human health and disease. Although several of these domains are sex biased, our fundamental understanding of cerebellar sex differences-including their spatial distribution, potential biological determinants, and independence from brain volume variation-lags far behind that for the cerebrum. Here, we harness automated neuroimaging methods for cerebellar morphometrics in 417 individuals to (1) localize normative male-female differences in raw cerebellar volume, (2) compare these to sex chromosome effects estimated across five rare sex (X/Y) chromosome aneuploidy (SCA) syndromes, and (3) clarify brain size-independent effects of sex and SCA on cerebellar anatomy using a generalizable allometric approach that considers scaling relationships between regional cerebellar volume and brain volume in health. The integration of these approaches shows that (1) sex and SCA effects on raw cerebellar volume are large and distributed, but regionally heterogeneous, (2) human cerebellar volume scales with brain volume in a highly nonlinear and regionally heterogeneous fashion that departs from documented patterns of cerebellar scaling in phylogeny, and (3) cerebellar organization is modified in a brain size-independent manner by sex (relative expansion of total cerebellum, flocculus, and Crus II-lobule VIIIB volumes in males) and SCA (contraction of total cerebellar, lobule IV, and Crus I volumes with additional X-or Y-chromosomes; X-specific contraction of Crus II-lobule VIIIB). Our methods and results clarify the shifts in human cerebellar organization that accompany interwoven variations in sex, sex chromosome complement, and brain size.
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