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Kate Baker

Possible papers associated with this exact author name in Arrow. This page groups case-insensitive exact name matches and is not a full identity disambiguation profile.

2 papers

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YNICL Journal 2016 Journal Article

Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability

Joe Bathelt
Duncan Astle
Jessica Barnes
F. Lucy Raymond
Kate Baker

Childhood speech and language deficits are highly prevalent and are a common feature of neurodevelopmental disorders. However, it is difficult to investigate the underlying causal pathways because many diagnostic groups have a heterogeneous aetiology. Studying disorders with a shared genetic cause and shared cognitive deficits can provide crucial insight into the cellular mechanisms and neural systems that give rise to those impairments. The current study investigated structural brain differences of individuals with mutations in ZDHHC9, which is associated with a specific neurodevelopmental phenotype including prominent speech and language impairments and intellectual disability. We used multiple structural neuroimaging methods to characterise neuroanatomy in this group, and observed bilateral reductions in cortical thickness in areas surrounding the temporo-parietal junction, parietal lobule, and inferior frontal lobe, and decreased microstructural integrity of cortical, subcortical-cortical, and interhemispheric white matter projections. These findings are compared to reports for other genetic groups and genetically heterogeneous disorders with a similar presentation. Overlap in the neuroanatomical phenotype suggests a common pathway that particularly affects the development of temporo-parietal and inferior frontal areas, and their connections.

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YNIMG Journal 2011 Journal Article

Neuroanatomy in adolescents and young adults with 22q11 Deletion Syndrome: Comparison to an IQ-matched group

Kate Baker
Christopher A. Chaddock
Torsten Baldeweg
David Skuse

22q11 deletion syndrome (22q11DS) is a common genetic condition associated with learning disability and high risk for psychiatric illness, in particular schizophrenia. Previous neuroimaging studies in children and adults with 22q11DS have uncovered a number of abnormalities, but have not differentiated between features relating to cognitive impairment and features relating to risk for schizophrenia. This structural MRI study compares adolescents with 22q11DS (n=14) to adolescents with idiopathic learning disability (n=13) and to typically-developing controls (n=14). Voxel-based morphometry and region-of-interest volumetric analyses were employed to test specific hypotheses based on prior studies of 22q11DS. Features that differentiated 22q11DS participants from both matched-IQ and higher-IQ controls were total white matter volume reduction, occipito-parietal and anterior temporal grey matter reduction, frontal and insula grey matter enlargement, and corpus callosum enlargement. On the other hand, hippocampal volume and cerebellar hemisphere reductions differed between 22q11DS and higher-IQ controls only. The neuroanatomical substrates for cognitive impairment and psychiatric illness in 22q11DS are at least partially separable. Correlations between regional volumetric abnormalities and age suggest that exaggerated processes of normal adolescent brain maturation contribute to psychosis-risk in 22q11DS, consistent with previous findings in childhood-onset schizophrenia.

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