Department of Communication Sciences and Disorders, University of South Carolina, Columbia.
Department of Psychology, University of South Carolina, Columbia.
J Speech Lang Hear Res. 2022 Mar 8;65(3):954-969. doi: 10.1044/2021_JSLHR-21-00446. Epub 2022 Feb 23.
Cluttering is a fluency disorder that has been noted clinically in individuals with fragile X syndrome (FXS). Yet, cluttering has not been systematically characterized in this population, hindering identification and intervention efforts. This study examined the rates of cluttering in male young adults with FXS using expert clinical opinion, the alignment between expert clinical opinion and objectively quantified features of cluttering from language transcripts, and the association between cluttering and aspects of the FXS phenotype.
Thirty-six men with FXS (aged 18-26 years; = 22, = 2.35) contributed language samples and completed measures of nonverbal cognition, autism symptoms, anxiety, and symptoms of attention-deficit/hyperactivity disorder (ADHD). The presence of cluttering was determined by the consensus of two clinical experts in fluency disorders based on characteristics exhibited in the language sample. Cluttering features (speech rate, disfluencies, etc.) were also objectively quantified from the language transcripts.
Clinical experts determined that 50% of participants met the criteria for a cluttering diagnosis. Phrase repetitions were the most salient feature that distinguished individuals who cluttered. Although the presence of cluttering was not associated with autism symptoms or mean length of utterance, cluttering was more likely to occur when nonverbal cognitive ability was higher, ADHD symptoms were elevated, and anxiety symptoms were low.
Half of the male young adults with FXS exhibited cluttering, which supports FXS as a genetic diagnosis that is highly enriched for risk of cluttering. Cluttering was associated with increased ADHD symptoms and cognitive ability and reduced anxiety symptoms. This study contributes a new description of the clinical presentation of cluttering in men with FXS and may lead to improved understanding of the potential underlying mechanisms of cluttering and eventual refinements to treatment and diagnosis.
口吃是一种流畅性障碍,已在脆性 X 综合征(FXS)患者的临床中注意到。然而,这种口吃并未在该人群中得到系统地描述,这阻碍了识别和干预工作的开展。本研究使用专家临床意见、专家临床意见与语言转录中口吃客观量化特征之间的一致性以及口吃与 FXS 表型各方面之间的相关性,来检查男性年轻 FXS 患者的口吃发生率。
36 名男性 FXS 患者(年龄 18-26 岁; = 22, = 2.35)提供了语言样本,并完成了非言语认知、自闭症症状、焦虑和注意力缺陷多动障碍(ADHD)症状的测量。两位流利障碍临床专家根据语言样本中表现出的特征,共同确定了口吃的存在。口吃特征(语速、不流畅等)也从语言转录中客观地量化出来。
临床专家确定 50%的参与者符合口吃诊断标准。短语重复是区分口吃者的最显著特征。尽管口吃的存在与自闭症症状或平均话语长度无关,但当非言语认知能力较高、ADHD 症状升高和焦虑症状较低时,口吃更有可能发生。
一半的男性年轻 FXS 患者表现出口吃,这支持 FXS 是一种高度易患口吃的遗传诊断。口吃与 ADHD 症状增加和认知能力提高以及焦虑症状减少有关。本研究为 FXS 男性患者的口吃临床特征提供了新的描述,并可能有助于更好地理解口吃的潜在机制,并最终改进治疗和诊断。