Precochlear Implant Assessment: Clinical Profile and Family History of Children with Severe Bilateral Prelingual Hearing Loss

THIEME Original Research Precochlear Implant Assessment: Clinical Profile and Family History of Children with Severe Bilateral Prelingual Hearing Loss Syed Hashim Raza1 Rehmana Waris1 Samina Akhtar2 1 Children Hospital, Pakistan Institute of Medical Sciences, Islamabad, Islamabad, Pakistan 2 Department of Diagnostic Radiology, Pakistan Institute of Medical Sciences, Islamabad, Islamabad, Pakistan 3 Pakistan Institute of Medical Sciences & Rawalpindi Medical College, Islamabad, Islamabad, Pakistan 4 Atta ur Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Islamabad, Pakistan Ramish Riaz3,4 Address for correspondence Ramish Riaz, PhD, Department of Diagnostic Radiology, Pakistan Institute of Medical Sciences, G-8, Islamabad, Islamabad, 44000, Pakistan (e-mail: ). Int Arch Otorhinolaryngol 2020;24(4):e457–e461. Abstract Keywords ► hearing loss ► consanguinity ► cochlear implant received August 17, 2019 accepted November 3, 2019 Introduction 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. Objective 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. Methods 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. Results 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. Conclusion 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. DOI https://doi.org/ 10.1055/s-0039-3402442. ISSN 1809-9777. Copyright © 2020 by Thieme Revinter Publicações Ltda, Rio de Janeiro, Brazil 457 458 Precochlear Implant Assessment Raza et al. Introduction Approximately 360 million people worldwide have disabling hearing loss, 32 million of whom are children. The prevalence of disabling hearing loss in children is highest in Southern Asia.1 The prevalence of profound bilateral hearing loss in Pakistan is 1.6 per 1,000 individuals.2 There are around 150,000 congenitally deaf individuals in Pakistan.3 Congenital hearing loss could occur due to genetic causes, environmental factors, and prenatal factors, like congenital infections. However, the genetic causes account for the majority of the cases.4 Congenital deafness usually runs in families. Family history plays an important role in predicting the diseases and the genetic mutations associated with disease.5 Consanguineous marriage pattern is one of the important factors that increases the expression of recessive genetic disorders. High rates of consanguineous marriages result in an isolated genetic pool that increases the risk of developing rare diseases.2 Studies on congenital hearing loss have shown a high rate of consanguineous marriages among the parents of affected children. In such cases, more than one child is usually affected.6 Prelingual hearing loss is defined as loss of hearing before 2 years of age, that is, before the development of language skills.7 Most patients with prelingual hearing loss in industrialized nations have genetic defects. However, the cause of deafness in developing countries remains idiopathic. This could be due to the lack of facilities for genetic testing. Meningitis and use of ototoxic drugs are among the other few identifiable causes of prelingual hearing loss.8 Studies have shown that children with severe hearing impairment have multiple associated language and behavioral problems.9 Depression and stress disorders are also more common in deaf children as compared with their non-deaf peers.10 Language development is strongly linked to auditory perception. Cognitive development and social interactions are linked to the person’s ability to speak. Prelingual hearing loss has a very negative effect on language development, which results in decreased cognitive skills and behavioral problems. Early identification of hearing loss and early intervention could increase the possibility of developing normal speech and language.11 Cochlear implantation can help deaf children in all aspects of learning and cognitive development. Studies have shown that better results are achieved in patients implanted before 3 years of age.8 Cochlear implantation was introduced in Pakistan in August 2000 through an international collaboration in a private setup at Lahore. However, due to the paucity of resources, only 52 patients were successfully implanted until 2005. Now, government hospitals have started to perform cochlear implantation at a comparatively lower cost.3 The present study is part of a project involving the first free cochlear implantation program in Pakistan. To date, there are very few studies conducted in Pakistan on hearing loss, especially on patients suitable for cochlear implantation. 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 in prelinInternational Archives of Otorhinolaryngology Vol. 24 No. 4/2020 gual hearing loss. The present will be a baseline study that will provide details about the children visiting a public sector hospital in Pakistan for cochlear implantation. After the implantation, the present study will contribute to the comparison of outcomes between children with or without behavioral impediments. Materials and Methods The present descriptive study was performed from November 2016 to September 2018 after approval (Ref No:87–6-16) from the Children’s Hospital. 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. The patients as (...truncated)