Institute of Physiology (Developmental Physiology and Developmental Neuroscience; IN:spired), Center for Physiological Medicine, Medical University of Graz, Austria.
Res Dev Disabil. 2012 Nov-Dec;33(6):1749-56. doi: 10.1016/j.ridd.2012.04.012. Epub 2012 Jun 13.
Rett syndrome (RTT) is a developmental disorder characterized by regression of purposeful hand skills and spoken language, although some affected children retain some ability to speech. We assessed the communicative abilities of five young girls, who were later diagnosed with the preserved speech variant of RTT, during the pre-regression period (aged 12-24 months). Videotapes, obtained by parents during routine family situations and celebrations, were analyzed to identify communicative forms and functions used by these toddlers. Non-verbal communicative forms dominated over verbal-communicative forms for six of the eight identified communication functions. Although the girls used various non-verbal forms to make requests, for example, none of the individuals were observed to make choices or request information. Early peculiarities in the speech-language domain during the first year of life became more prominent and evident during the second year of life as general differences between typical development and atypical development become more obvious in RTT. These findings highlight the importance of assessing socio-communicative forms and functions at early age in children with RTT. The results suggest that speech-language functions did not appear to play a major role in the children's communicative attempts. We conclude that, even among children with the preserved speech variant, socio-communicative deficits are present before regression and persist after this period.
雷特综合征（RTT）是一种发育障碍，其特征是目的性手部技能和口语的退化，尽管一些受影响的儿童仍保留一定的言语能力。我们评估了五个年轻女孩的沟通能力，她们后来被诊断为保留言语变异型 RTT，在退行前阶段（12-24 个月）。家长在日常家庭情况和庆祝活动中获得的录像带被分析，以确定这些幼儿使用的沟通形式和功能。在确定的八个沟通功能中，有六个功能是非言语沟通形式占主导地位，而不是言语沟通形式。虽然女孩们使用各种非言语形式来提出请求，但没有一个人被观察到做出选择或请求信息。在生命的第一年，早期在言语语言领域的特殊表现变得更加突出和明显，因为 RTT 中典型发育和非典型发育之间的一般差异变得更加明显。这些发现强调了在 RTT 儿童中早期评估社交沟通形式和功能的重要性。结果表明，言语语言功能似乎在儿童的沟通尝试中没有发挥主要作用。我们得出结论，即使在保留言语变异型的儿童中，社交沟通缺陷也在退行前存在，并在退行后持续存在。
