Prevalence and Phenotype of Childhood Apraxia of Speech in Youth With Galactosemia
Prevalence and Phenotype of Childhood Apraxia of Speech in Youth With Galactosemia
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DOI：
10.1044/1092-4388(2010/10-0068
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发表时间：
2011-04-01
影响因子：
2.6
通讯作者：
Strand, Edythe A.
中科院分区：
文献类型：
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作者：
Shriberg, Lawrence D.;Potter, Nancy L.;Strand, Edythe A.
目的：在这篇文章中，作者提出了一种假设，即半乳糖血症患者报告的严重和持续性言语障碍符合当代儿童言语失用(CAS)的诊断标准。在这种罕见的代谢障碍中，CAS的积极发现可能会影响半乳糖症患者的治疗，并为CAS在神经学、神经发育和特发性方面的解释提供信息。方法：在17个州的33名患有半乳糖血症和明显的既往或持续性语音障碍的青年患者的家中进行评估。结果：33名参与者中有8名(24%)符合当代CAS的诊断标准。2名参与者，其中1名是CAS患者，符合共济失调或运动性构音障碍的标准。GroupWise对其余24名参与者的研究结果与名为运动性言语障碍的分类一致-未另行规定(Shriberg，Fourakis等人，2010a)。结论：作者估计半乳糖血症中CAS的患病率为每100人18人-是特发性CAS估计风险的180倍。研究结果支持有必要研究运动语言障碍在半乳糖血症中高发的危险因素，尽管早期遵循饮食管理。
Purpose: In this article, the authors address the hypothesis that the severe and persistent speech disorder reported in persons with galactosemia meets contemporary diagnostic criteria for Childhood Apraxia of Speech (CAS). A positive finding for CAS in this rare metabolic disorder has the potential to impact treatment of persons with galactosemia and inform explanatory perspectives on CAS in neurological, neurodevelopmental, and idiopathic contexts.Method: Thirty-three youth with galactosemia and significant prior or persistent speech sound disorder were assessed in their homes in 17 states. Participants completed a protocol yielding information on their cognitive, structural, sensorimotor, language, speech, prosody, and voice status and function.Results: Eight of the 33 participants (24%) met contemporary diagnostic criteria for CAS. Two participants, 1 of whom was among the 8 with CAS, met criteria for ataxic or hyperkinetic dysarthria. Groupwise findings for the remaining 24 participants are consistent with a classification category termed Motor Speech Disorder-Not Otherwise Specified (Shriberg, Fourakis et al., 2010a).Conclusion: The authors estimate the prevalence of CAS in galactosemia at 18 per hundred-180 times the estimated risk for idiopathic CAS. Findings support the need to study risk factors for the high occurrence of motor speech disorders in galactosemia despite early compliant dietary management.