Zappella M
Department of Child Neuropsychiatry, General Hospital, Siena, Italy.
Eur Child Adolesc Psychiatry. 1997;6 Suppl 1:23-5.
In 7 Italian girls and one of Indian descent a syndrome is described with a neurodevelopmental profile and some symptoms similar to the classic Rett syndrome but with notable differences. The initial psychomotor development, usually reported as normal or close to normal, is followed by the first two stages of the disorder, identical to the classic Rett syndrome. Over a period varying between a few months or a few years a third stage begins when they slowly recover their ability to interact with people and in subsequent years begin to speak with words and fully formed sentences, echolalic and with pronoun reversal. Autistic features usually remain to a considerable extent. They slowly recover the ability to use their hands, although some degree of hand dyspraxia usually remains and their gait may become more appropriate. Hand-washing, hand-clapping, or hand-twisting are present. Bruxism, hyperventilation, microcephaly, epilepsy, kyphoscoliosis can only rarely be observed. Their height and weight are usually normal.
在7名意大利女孩和1名印度裔女孩中，描述了一种综合征，其具有神经发育特征和一些与经典雷特综合征相似的症状，但也有显著差异。最初的精神运动发育通常报告为正常或接近正常，随后是该疾病的前两个阶段，与经典雷特综合征相同。在几个月到几年不等的一段时间后，第三阶段开始，此时她们慢慢恢复与人互动的能力，在随后的几年里开始用单词和完整的句子说话，有模仿言语和代词倒置现象。通常仍存在相当程度的自闭症特征。她们慢慢恢复使用双手的能力，尽管通常仍会残留一定程度的手部运动障碍，而且她们的步态可能会变得更正常。存在洗手、拍手或扭手等行为。磨牙症、换气过度、小头畸形、癫痫、脊柱侧弯很少能观察到。她们的身高和体重通常正常。
