Glaze DG, Schultz RJ
The Rett Center, Baylor College of Medicine, Houston, Tex.
Medscape Womens Health. 1997 Jan;2(1):3.
Rett syndrome (RS) is an incurable neurological disorder that occurs in females. Although the biological basis is unknown, there is substantial evidence suggesting a genetic basis. RS is characterized by an initial period of apparently normal psychomotor development followed by loss of communication skills and purposeful hand movement. Then, hand stereotypies, gait dyspraxia, and deceleration of head growth become apparent. Other problems include growth failure and epilepsy. There is no biological marker for RS; the diagnosis is based on well-delineated clinical criteria. The prevalence of RS is 1:23,000 live female births. Survival to 30-40 years or beyond is the rule rather than the exception. Treatment is both palliative and supportive. A vigorous approach to all aspects of care, including educational, medical, and psychosocial issues, is recommended.
雷特综合征（RS）是一种发生在女性中的无法治愈的神经障碍疾病。尽管其生物学基础尚不清楚，但有大量证据表明存在遗传基础。雷特综合征的特征是最初有一段明显正常的精神运动发育时期，随后出现沟通技能丧失和手部目的性运动丧失。然后，手部刻板动作、步态失用症和头围生长减速变得明显。其他问题包括生长发育迟缓与癫痫。雷特综合征没有生物学标志物；诊断基于明确的临床标准。雷特综合征的患病率为每23000例存活女婴中有1例。活到30至40岁或更长时间是常见情况而非例外。治疗是姑息性和支持性的。建议对护理的各个方面采取积极措施，包括教育、医疗和心理社会问题。
