Clinical, Cognitive and Behavioural Assessment in Children with Cerebellar Disorder
Applied Sciences(2021)
摘要
Cerebellar disorders are characterised clinically by specific signs and symptoms, often associated with neurodevelopmental disorder. While the clinical signs of cerebellar disorders are clearly recognisable in adults and have a precise anatomo-functional correlation, in children the semiotics are less clear and vary with age because of the particular nature of the cerebellum’s maturation. Unlike other structures of the central nervous system, this begins at a later stage of foetal development and extends over a longer period of time, even after birth. As a result, the typical signs of cerebellar dysfunction will only become evident when the cerebellar functions have become integrated into the complex circuits of the central nervous system. This means that poor motor coordination in the very early years of life may not necessarily correlate with cerebellar dysfunction, and this may also be encountered in healthy children. The cerebellum’s role in cognitive and emotional functions relies on its structure and the complexity of its connections. Cognitive and behavioral impairment in cerebellar disorders can be the results of acquired lesions or the action of genetic and environmental risk factors, to which the cerebellum is particularly vulnerable considering its pattern of development. In the pathological setting, early evidence of cerebellar damage may be very vague, due, partly, to spontaneous compensation phenomena and the vicarious role of the connecting structures (an expression of the brain’s plasticity). Careful clinical assessment will nonetheless enable appropriate instrumental procedures to be arranged. It is common knowledge that the contribution of neuroimaging is crucial for diagnosis of cerebellar conditions, and neurophysiological investigations can also have a significant role. The ultimate goal of clinicians is to combine clinical data and instrumental findings to formulate a precise diagnostic hypothesis, and thus request a specific genetic test in order to confirm their findings, wherever possible.
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关键词
ataxia,cerebellar hypoplasia,cerebellar atrophy,developmental delay
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