Raza Syed Hashim, Waris Rehmana, Akhtar Samina, Riaz Ramish
Children Hospital, Pakistan Institute of Medical Sciences, Islamabad, Islamabad, Pakistan.
Department of Diagnostic Radiology, Pakistan Institute of Medical Sciences, Islamabad, Islamabad, Pakistan.
Int Arch Otorhinolaryngol. 2020 Oct;24(4):e457-e461. doi: 10.1055/s-0039-3402442. Epub 2020 Feb 7.
The prevalence of deafness is high in Pakistan. Knowledge regarding the clinical features of patients with profound hearing loss will not only help identify the cause but will also help in the strategic planning for public health interventions. The present study was conducted to cover in detail the clinical aspects of children with hearing loss, that is, age at presentation, associated deficits and disorders, possible cause of the disease, associated family history, and role of consanguineous marriage. The present study was performed from November 2016 to September 2018. All of the patients under 6 years of age with profound bilateral hearing loss who would benefit from cochlear implantation were included in the study. Detailed history was taken. The developmental skills were assessed for all areas, and the patients were scored regarding their motor, manipulative, visual, language, social and self-care skills according to the Schedule of Growing Skills II. Detailed family history was taken from the parents of the affected children. The Statistical Package for the Social Sciences (SPSS) software, version 20.0, was used for the statistical analysis. The mean age of the children to be treated was 3.2 ± 1.25 years. Most patients (51.5%) had a positive family history of disease. Consanguineous marriage was common; the parents of 76.9% of the patients were first-degree relatives. Most patients (90.8%) had associated language impediments. In total, four (Ł3.07%) patients had global developmental delay. Consanguineous marriage pattern plays an important role in diseases running in families. Development in these children is strongly linked to their age at the consultation.
巴基斯坦的耳聋患病率很高。了解重度听力损失患者的临床特征不仅有助于查明病因，还将有助于公共卫生干预措施的战略规划。 本研究旨在详细涵盖听力损失儿童的临床情况，即就诊年龄、相关缺陷和障碍、疾病的可能病因、相关家族史以及近亲结婚的作用。 本研究于2016年11月至2018年9月进行。所有6岁以下双侧重度听力损失且将从人工耳蜗植入中受益的患者均纳入研究。采集了详细病史。对所有领域的发育技能进行了评估，并根据《成长技能时间表II》对患者的运动、操作、视觉、语言、社交和自我护理技能进行了评分。从受影响儿童的父母那里采集了详细的家族史。使用社会科学统计软件包（SPSS）20.0版进行统计分析。 待治疗儿童的平均年龄为3.2±1.25岁。大多数患者（51.5%）有疾病家族史阳性。近亲结婚很常见；76.9%患者的父母是一级亲属。大多数患者（90.8%）有相关的语言障碍。共有4名（3.07%）患者有全面发育迟缓。 近亲结婚模式在家族性疾病中起重要作用。这些儿童的发育与就诊时的年龄密切相关。
