TY - JOUR
T1 - Rett syndrome. Natural history in 70 cases
AU - Naidu, S.
AU - Murphy, M.
AU - Moser, H. W.
AU - Rett, A.
PY - 1986
Y1 - 1986
N2 - We evaluated, at our institute, 70 females with Rett syndrome between 2 1/2 to 34 1/2 years old. This provided an opportunity of observing the natural history of this condition. The evolution of a subacute encephalopathy of very early onset, maximizing in the second year of life, with slow recovery and devastating sequelae, was recognized. The hyperorality, visual auditory and tactile agnosia with aphasia and seizures resembled symptoms described in human Kluver Bucy syndrome. Over interpretation of behavioral abnormalities as seizures was common. Scoliosis was not a necessary concomitant of age. A consistent biochemical or neurophysiological abnormality was not detectable in understanding the cause and pathogenesis of this disease process. Life span appears to be unaffected though life tables have not yet been established.
AB - We evaluated, at our institute, 70 females with Rett syndrome between 2 1/2 to 34 1/2 years old. This provided an opportunity of observing the natural history of this condition. The evolution of a subacute encephalopathy of very early onset, maximizing in the second year of life, with slow recovery and devastating sequelae, was recognized. The hyperorality, visual auditory and tactile agnosia with aphasia and seizures resembled symptoms described in human Kluver Bucy syndrome. Over interpretation of behavioral abnormalities as seizures was common. Scoliosis was not a necessary concomitant of age. A consistent biochemical or neurophysiological abnormality was not detectable in understanding the cause and pathogenesis of this disease process. Life span appears to be unaffected though life tables have not yet been established.
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U2 - 10.1002/ajmg.1320250507
DO - 10.1002/ajmg.1320250507
M3 - Article
C2 - 3087204
AN - SCOPUS:0022516151
SN - 0148-7299
VL - 24
SP - 61
EP - 72
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - SUPPL. 1
ER -