Findings from a multidisciplinary clinical case series of females with Rett syndrome
Findings from a multidisciplinary clinical case series of females with Rett syndrome
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DOI：
10.1017/s0012162203000616
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发表时间：
2003-05-01
影响因子：
3.8
通讯作者：
Charman, T
中科院分区：
文献类型：
--
作者：
Cass, H;Reilly, S;Charman, T
系统的数据，从一个多学科的临床评估的一个大系列的女性Rett综合征（RS; n=87）。参与者的年龄从2岁1个月到44岁10个月不等。评估的领域包括orbital技能，喂养问题，生长，呼吸异常，流动性，姿势异常和关节畸形，癫痫，手的使用和刻板印象，自我护理，认知和沟通技能。许多先前报道的RS随时间推移的趋势得到了证实，特别是成年期固定关节畸形和脊柱侧凸的生长越来越差和几乎普遍。相比之下，有轻微的趋势，改善自主神经功能在成年期，而喂养困难增加到童年中期，然后达到一个平台。在进入青春期后，这些技能的提高伴随着成年后的下降。依赖程度很高，证实了以前的研究结果。尽管存在重复的手部动作，但在所有年龄段的个体中都可以看到一系列的手部使用技能。认知和沟通能力有限，但几乎没有证据表明这些能力随着年龄的增长而下降。这些研究结果证实，RS不是一种退行性疾病，并表明干预和支持，以保持和提高运动技能，日常生活技能，认知和沟通功能是RS个人的适当目标。
Systematic data from a multidisciplinary clinical assessment of a large series of females with Rett syndrome (RS; n=87) is presented. Participants' ages ranged from 2 years 1 month to 44 years 10 months. Areas assessed included oromotor skills, feeding problems, growth, breathing abnormalities, mobility, postural abnormalities and joint deformities, epilepsy, hand use and stereotypies, self-care, and cognitive and communication skills. Many previously reported trends in the presentation of RS over time were confirmed, notably the increasingly poor growth and near pervasiveness of fixed joint deformities and scoliosis in adulthood. In contrast, there was a slight trend towards improved autonomic function in adulthood, whereas feeding difficulties increased into middle childhood and then reached a plateau. Improvements in mobility into adolescence were followed by a decline in those skills in adulthood. Levels of dependency were high, confirming findings from previous studies. Despite the presence of repetitive hand movements, a range of hand-use skills was seen in individuals of all ages. Cognitive and communication skills were limited, but there was little evidence of deterioration of these abilities with age. These findings confirm that RS is not a degenerative condition and indicate that intervention and support to maintain and increase motor skills, daily living skills, and cognitive and communicative functioning are appropriate targets for individuals with RS.