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Natural History of Rett Syndrome

Segawa Neurological Clinic for Children, Tokyo, Japan, nomura-y{at}segawa-clinic.jp.

Masaya Segawa, MD

Segawa Neurological Clinic for Children, Tokyo, Japan

Rett syndrome is a unique neurodevelopmental disorder, with onset of hypotonia, autistic tendency, and abnormalities of fine finger movements and gross movements of the arms in early infancy. Clinical features include specific age-dependent symptoms. Studies of early and late signs correlated locomotive dysfunction to language disability and stereotypy to regression of higher cortical functions. Studies of sleep parameters revealed early hypofunction of brainstem aminergic neurons and late occurrence of hypofunction of dopaminergic neurons, followed by receptor supersensitivity. The syndrome's pathophysiology suggests that early hypofunction of aminergic neurons interferes with the development of higher neuronal systems. Particular symptoms surface at different ages throughout the natural course of Rett syndrome, with regressional and static periods. (J Child Neurol 2005;20:764—768).

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