Links between abnormal brain structure and cognition in holoprosencephaly


Links between abnormal brain structure and cognition in holoprosencephaly


Roesler CP; Paterson SJ; Flax J; Hahn JS; Kovar C; Stashinko EE; Jing H; Benasich AA


Pediatric Neurology




Child; Female; Humans; Male; Age Factors; Severity of Illness Index; Cognition; Sex Factors; Predictive Value of Tests; adolescent; Preschool; infant; Q3 Literature Search; Neuropsychological Tests; Brain/abnormalities; Cognition Disorders/pathology; Corpus Striatum/abnormalities; Epilepsy/pathology; Holoprosencephaly/pathology; Hypothalamus/abnormalities; Motor Skills Disorders/pathology; Thalamic Nuclei/abnormalities


Converging information on medical issues, motor ability, and cognitive outcomes is essential when addressing long-term clinical management in children with holoprosencephaly. This study considered whether adding more informative structural indices to classic holoprosencephaly categories would increase prediction of cognitive outcomes. Forty-two children with holoprosencephaly were examined to determine the association of deep gray nuclei abnormalities with cognitive abilities and the effect of motor skill deficits on cognitive performance. Additionally, a cognitive profile was described using the Carter Neurocognitive Assessment, an experimental diagnostic instrument designed specifically for young children with severe neurodevelopmental dysfunction. Findings indicated that nonseparation of the deep gray nuclei was significantly associated with the cognitive construct of vocal communication, but not with the cognitive constructs of social awareness, visual attention, or auditory comprehension. Importantly, motor skill deficits did not significantly affect performance on the Carter Neurocognitive Assessment. This study is the first investigation to provide a descriptive overview of specific cognitive skills in this group of children. The results also strongly suggest that this feature of the brain's structure does not predict all aspects of neurodevelopmental function. These findings contribute a critical component to the growing body of knowledge regarding the medical and clinical outcomes of children with holoprosencephaly.


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Roesler CP; Paterson SJ; Flax J; Hahn JS; Kovar C; Stashinko EE; Jing H; Benasich AA, “Links between abnormal brain structure and cognition in holoprosencephaly,” Pediatric Palliative Care Library, accessed May 16, 2022,

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