Scholarlink

<p>The purpose of this paper is to highlight the speech-language and audio-vestibular evaluation of an individual with Cutis Laxa Syndrome&#xa0;(CLS). CLS is a rare genetic disorder that primarily affects the skin, leading to a loose, saggy, and prematurely aged appearance. A 7.3-year-old male with Autosomal Recessive Type IIB CLS was brought to the institute with the complaint of limited communication skills. A detailed case history was taken, and it was reported that the child had delayed speech and motor milestones. Further speech and language testing, using the Assessment Checklist of Speech and Language Skills, indicated that the child’s receptive language age was in the range of 2.1 to 2.6&#xa0;years and expressive language age was in the range of 1.10 to 2.3&#xa0;years. Language sampling analysis revealed deficits in all language components. Articulatory analysis using the Kannada Diagnostic Photo Articulation Test showed predominantly distortion errors. Additionally, phonological process analysis revealed that syllable structure processes, assimilation processes, and substitution processes were present. Further, a detailed audio-vestibular assessment was carried out. Audiometry revealed normal hearing sensitivity. Immittance audiometry showed an A-type tympanogram with the presence of both ipsilateral and contralateral reflexes. Otoacoustic emissions (OAE) were present with a signal-to-noise ratio (SNR) greater than 6&#xa0;dB. Auditory brainstem response (ABR) testing showed peaks up to 30 dBnHL, which also correlates with normal hearing sensitivity. Both c VEMP and o VEMPs were absent in the left ear; however, they were present in the right ear. Questionnaire-based vestibular evaluation was carried out using the&#xa0;Pediatric Vestibular Symptom Questionnaire (PVSQ) and Pediatric Balance Scale (PBS). In PVSQ, the patient obtained a score of 14 (average 1.4) and score of 29 was obtained on PBS. Scores of both questionnaires indicates possible vestibular/ balance dysfunction.&#xa0;In addition to speech and language assessment&#xa0;and audio-vestibular assessment, psychological, physiotherapy and occupational therapy evaluations were carried out, which highlighted the cognitive and motor impairments of the individual with CLS. Thus,&#xa0;the article throws light on the clinical manifestations of an individual with CLS and covers the importance of considering a profile of the different developmental skills in individuals with CLS.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Multi-domain clinical profile of an individual with cutis laxa syndrome: A case report

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年1月23日

查看全文
  • Murali Subhiksha,
  • Sairaman Thangam Ashokganesh,
  • Prajeesh Thomas,
  • Amulya P. Rao

摘要

The purpose of this paper is to highlight the speech-language and audio-vestibular evaluation of an individual with Cutis Laxa Syndrome (CLS). CLS is a rare genetic disorder that primarily affects the skin, leading to a loose, saggy, and prematurely aged appearance. A 7.3-year-old male with Autosomal Recessive Type IIB CLS was brought to the institute with the complaint of limited communication skills. A detailed case history was taken, and it was reported that the child had delayed speech and motor milestones. Further speech and language testing, using the Assessment Checklist of Speech and Language Skills, indicated that the child’s receptive language age was in the range of 2.1 to 2.6 years and expressive language age was in the range of 1.10 to 2.3 years. Language sampling analysis revealed deficits in all language components. Articulatory analysis using the Kannada Diagnostic Photo Articulation Test showed predominantly distortion errors. Additionally, phonological process analysis revealed that syllable structure processes, assimilation processes, and substitution processes were present. Further, a detailed audio-vestibular assessment was carried out. Audiometry revealed normal hearing sensitivity. Immittance audiometry showed an A-type tympanogram with the presence of both ipsilateral and contralateral reflexes. Otoacoustic emissions (OAE) were present with a signal-to-noise ratio (SNR) greater than 6 dB. Auditory brainstem response (ABR) testing showed peaks up to 30 dBnHL, which also correlates with normal hearing sensitivity. Both c VEMP and o VEMPs were absent in the left ear; however, they were present in the right ear. Questionnaire-based vestibular evaluation was carried out using the Pediatric Vestibular Symptom Questionnaire (PVSQ) and Pediatric Balance Scale (PBS). In PVSQ, the patient obtained a score of 14 (average 1.4) and score of 29 was obtained on PBS. Scores of both questionnaires indicates possible vestibular/ balance dysfunction. In addition to speech and language assessment and audio-vestibular assessment, psychological, physiotherapy and occupational therapy evaluations were carried out, which highlighted the cognitive and motor impairments of the individual with CLS. Thus, the article throws light on the clinical manifestations of an individual with CLS and covers the importance of considering a profile of the different developmental skills in individuals with CLS.