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Congenital and Acquired Brain Damage and Dysfunction in Childhood
Overview of diagnosis
The assembling and analysis of developmental trajectories is the main diagnostic tool of paediatric neurology. Even having described the main pathways above and the potential variations upon them, there are some conditions, which do not fit any of the models. Rett syndrome is a good example: girls, with classical Rett syndrome, develop normally, or nearly so, until the latter part of the first year, when skills are lost in cognition and manual function, behaviour changes and abnormal movements of the hands appear. There is then a phase of plateauing of development, followed by slow progress, acquiring skills along a deviant line. Then later there is increasing evidence of a motor disorder and scoliosis tends to progress. Understanding how such a process comes about remains difficult despite the identification of the gene defect.
This short article is intended to map out the main structure of diagnosis in developmental neurology and how clinical history and examination remains the cornerstone of this process. Detailed analysis of the clinical history and examination will continue to be cornerstone of diagnosis. It is hoped that this illustrates how diagnoses may be provisional and change over time despite the best endeavours of paediatric neurologists and how parental perceptions may vary from that of their doctors in children with brain damage and dysfunction.
Progressive brain diseases
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