5/9/2019 Syndromic Sensorineural Hearing Loss: Practice Essentials, Pathophysiology, Epidemiology

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Syndromic Sensorineural Hearing

Loss
Updated: May 18, 2018
Author: Stephanie A Moody Antonio, MD; Chief Editor: Arlen D Meyers, MD, MBA more...

OVERVIEW

Practice Essentials
Sensorineural hearing loss (SNHL) has many different presentations, ranging in severity from mild to
profound, including low- and high-pitch patterns. Genetic hearing loss may appear as an isolated
finding or as part of a syndrome. About 70% of genetic hearing loss is nonsyndromic, and about 30%
is syndromic.

Signs and symptoms

The following histories should be obtained:

Gestational

Perinatal

Postnatal

Family

Clinical findings suggestive of syndromes associated with hearing loss include the following:

Ear examination findings

Eye examination findings

Integumentary examination findings

Cardiac findings

Renal findings

Dental findings

Endocrine/metabolic findings

Chromosomal abnormalities

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Neurologic abnormalities

Skeletal examination findings

Craniofacial abnormalities

Diagnosis
A routine series of laboratory tests is not recommended. Studies, selected on an individualized basis,
may include the following:

Genetic testing

Complete blood count count with differential

Serum chemistries

Blood sugar

Blood urea nitrogen and creatinine

Thyroid function studies

Urinalysis

Fluorescent treponemal antibody absorption (FTA-ABS)

Specific immunoglobulin M (IgM) assays

Autoimmune panel

Imaging studies to be considered include the following:

Computed tomography

Magnetic resonance imaging

Renal ultrasonography

Other tests that may be helpful include the following:

Techniques for identifying and assessing hearing impairment (eg, audiometry and
tympanometry)

Electrocardiography

Electrooculography

Treatment

Medical care may include the following:

Treatment of any middle ear disease

Amplification

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Assistive listening devices and personal systems

Surgical care may include the following:

Surgical management of external and middle ear deformities

Cochlear implantation

Pathophysiology
The auditory system is highly complex, and disruptions at the level of the middle ear, cochlea, and
central nervous system can result in variable degrees of hearing loss. Hearing also depends on
precise biochemical, metabolic, vascular, hematologic, and endocrine function. Disruption in any of
these systems can profoundly affect the auditory system. The pathophysiology differs with each type
of syndromic hearing loss. This article attempts to describe the basic pathophysiology of each
syndrome, as it is currently understood. However, the molecular structure and pathways of the hearing
system is largely undiscovered. It is interesting to note that the study of the genetic basis of hearing
loss continues to enhance the understanding of the molecular basis of normal hearing. [1]

Epidemiology
Frequency
United States

About 21 million persons are hearing impaired, and approximately 1% of those persons are profoundly
hearing impaired. Approximately 4000 hearing-impaired infants are born each year. The average
incidence of hearing loss in neonates in the United States is 1.1 per 1000, with variability among
states ranging between 0.22 and 3.61, according to Mehra et al. [2] In this study, the prevalence of
childhood and adolescent hearing loss was 3.1%, with higher rates in Hispanic Americans and in
families with lower incomes. [2]

Filtering out the prevalence of syndromic hearing loss among nonsyndromic and nonhereditary
hearing loss is a difficult and imperfect task, given phenotypic variability, complicating medical risk
factors, and incomplete family histories. After reviewing 780 abstracts and summarizing 43 studies
published in English between 1966 and 2002, Morzaria et al reported that the most common etiologies
of hearing loss in children were unknown (37.7%) and genetic nonsyndromic (29.2%), while genetic
syndromic hearing loss accounted for 3.2% of the etiologies. [3]

A study by Mehta et al of 660 patients with hearing loss evaluated at the Genetics of Hearing Loss
Clinic at The Children’s Hospital of Philadelphia found syndromic causes in 7% of the cohort; Usher
and Waardenburg syndrome were the most common etiologies in this subgroup. [4]

International

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Hearing impairment affects up to 30% of the international community, and estimates indicate that 70
million persons are deaf. Proportions of hereditary verses acquired and syndromic versus
nonsyndromic hearing losses across populations is highly variable and is heavily influenced by
multiple factors, some likely not yet identified, including drift of populations, frequency of
consanguinity, and health status. Estimating the prevalence of hereditary hearing loss in populations
across the world is very difficult, since access to health care, poor health conditions, and a low level of
awareness of hearing loss is compounded by a higher frequency of complicating risk factors such as
neonatal distress, prematurity, high fever, otitis media, meningitis, ototoxic medications, and illnesses
such as rubella. [5]

Ancestry and race play a large role in the prevalence of syndromic hearing loss and may influence the
prevalence of nonsyndromic and acquired hearing losses. Saunders et al studied a rural community in
Nicaragua and demonstrated a prevalence of significant hearing loss of 18% in a group of school-
aged children in which 24% of the children had an identifiable family history of hearing loss. In a clinic-
based group of 96 patients with hearing loss, dysmorphic features were recognized in many of the
children, including atresia, low-set or cup ear deformity, juvenile cataracts, malar hypoplasia,
hemifacial microsomia, micrognathia, and branchial cleft cysts. Five children had features that
suggested a defined syndrome (neurofibromatosis, Goldenhar, branchiootorenal syndrome, Poland
syndrome, and Down syndrome), but many others had significant dysmorphisms that were thought to
be either unrelated to hearing loss or could not be diagnosed as a defined syndrome. [5]

Additionally and ideally, large-scale epidemiologic studies are needed and will become more
informative as molecular testing is made available to the world’s populations.

Mortality/Morbidity
The morbidity of hearing loss varies with the severity of involvement; however, it is a significant
problem even for the most mildly involved. Patients with unilateral hearing loss have difficulty hearing
in background sound and difficulty localizing sound. Bilateral profound hearing loss has a great
potential for morbidity. Many studies support that deafness significantly affects quality of life. Social,
educational, and earning potential are diminished.

In patients with syndromic hearing loss, morbidity and mortality is often more significant with
anomalies of the other involved system or systems. For example, children with Jervell and Lange-
Nielsen syndromes are at risk for syncope, arrhythmias, and sudden death. Children with Usher
syndrome develop hearing loss, vestibular impairment, and visual impairment. Usher syndrome
accounts for a large percentage of the etiology of deaf-blindness. The dual sensory impairment has
huge implications for communication and education. Glomerulonephrosis associated with Alport
syndrome can end in kidney failure and necessitate kidney transplant.

Age

Early identification of hearing loss and appropriate intervention provides the best opportunity for
counseling, habilitation, and development. Additionally, early enrollment in services for a child with
hearing impairment reduce health care, special education, and other service costs for families and
taxpayers. Prior to the initiation of universal hearing screening for newborns, fewer than 50% of
children who are hearing impaired were identified before age 3 years. Identification of risk factors
(prematurity, low birth weight, low Apgar scores) detects less than 50% of infants who have or are at
risk for hearing loss.

Currently, 36 states mandate hearing screening for newborns according to the National Newborn
Screening and Genetic Resource Center, as of 3/11/2009. Screening is almost universally offered in
the remaining states but not required by law. Currently, the average age at detection is about 14

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months. However, in Virginia, where universal infant screening has been mandated by law since July
1, 2000, and became greater than 98% compliant by 2004, the average age at diagnosis decreased
from 16.2 months to 4.5 months.

Children with syndromic features associated with hearing loss should be screened early and routinely
for hearing loss. [6] Even if initial screening examinations indicate normal hearing, they remain at risk.
During infancy and early childhood, parents should be aware of and questioned about the child's
achievement of hearing and language milestones. Parental concerns should be taken seriously. If
risks for hearing loss are high or the child does not seem to be meeting landmarks, a hearing
evaluation should be performed. Some syndromes, such as Pendred, Alport, Refsum,
neurofibromatosis type II, Usher, and osteopetrosis, may place the patient at risk for progressive
hearing loss.

Background
Sensorineural hearing loss (SNHL) is a common disorder that affects millions of people. Hearing loss
has many different presentations, ranging in severity from mild to profound, including low- and high-
pitch patterns, and can affect people of any age.

Genetic hearing loss may be present at birth (congenital) or may progress in either childhood or
adulthood. About 50% of congenital hearing loss is genetic and about 50% is acquired. Genetic
hearing loss may appear as an isolated finding or as part of a syndrome. About 70% of genetic
hearing loss is nonsyndromic, and about 30% is syndromic.

The London Dysmorphology Database lists 396 syndromes that include hearing loss among the
anomalies. [7] The most common and unique syndromes are discussed in this article. For a general
discussion of genetic hearing loss, see Genetic Sensorineural Hearing Loss.

See the image below.

Inner ear.

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Clinical Presentation

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