Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss

Abstract

Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity. Additionally, syndromic hearing loss (hearing loss and additional clinical abnormalities) should be distinguished from non-syndromic (hearing loss is the only clinical symptom). Although the diagnosis of genetic sensorineural hearing loss can be challenging, the patient’s family history and ethnicity may provide critical information, as certain genetic mutations are more common in specific ethnic populations. The early identification of the cause of deafness can benefit patients and their families by estimating recurrence risks for future family planning and offering the proper interventions to improve their quality of life. Collaboration between pediatricians, audiologists, otolaryngologists, geneticists, and other specialists are essential in the diagnosis and management of patients with hearing disorders. An early diagnosis is vital for proper management and care, as some clinical manifestations of syndromic sensorineural hearing loss are not apparent at birth and have a delayed age of onset. We present a case of Usher syndrome (congenital deafness and childhood-onset blindness) illustrating the challenges encountered in the diagnosis and management of children presenting with congenital genetic sensorineural hearing loss, along with helpful resources for clinicians and families.

The Importance of Early Genetic Diagnostics of Hearing Loss in Children

“…As blindness due to the retinitis pigmentosa does not occur during infancy but typically at the age of 10 years for Usher type 1, diagnosing Usher syndrome presents its own set of unique challenges. Managing the loss of hearing and vision makes early genetic diagnosis of Usher syndrome necessary [ 45 ], as it yields in the appropriate special education training programs.…”

The Qualitative Experiences of Otolaryngologists with Genetic Services in the Evaluation of Pediatric Hearing Loss

“…With over 100 genes implicated in hearing loss, genetic testing has allowed otolaryngologists to diagnose 40-65% of pediatric SNHL patients with a genetic disorder (Funamura, 2017;Jayawardena et al, 2015;Liming et al, 2016). Of all patients with congenital SNHL, 30% have a syndromic condition where a diagnosis via genetic testing allows medical professionals to provide anticipatory guidance and coordinate proper medical management (Casazza et al, 2017;Umrigar et al, 2017). Professional societies in otolaryngology, pediatrics, and genetics recognize the utility of genetic testing and recommend either single gene testing or comprehensive panel testing as a rst line tool in the workup of pediatric patients with hearing loss (Alford et al, 2014;Liming et al, 2016; Joint Committee on Infant Hearing Loss, 2019).…”

Subjective visual vertical in patients with Usher syndrome

“…Type I is characterized by a severe congenital hearing loss with congenital vestibular dysfunction and a RP usually diagnosed the first decade; Type II combines a moderate congenital hearing loss, normal vestibular function and RP diagnosed in the second or third decade, and type III, the rarest type, is characterized by a late progressive deafness [6]. Usher syndrome is relatively rare in the population, with an incidence rate of 4 births per 100.000 [24]. These patients face a progressive multisensory disability (particularly visual) that leads to a gradual loss of control of balance and autonomy in activities of daily living.…”