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PubMed This is a summary of 15 peer-reviewed journal articles Updated
Otolaryngology

Managing Hearing, Vision, and Sensory Integration

At a Glance

CHARGE syndrome frequently causes a combination of vision loss, complex hearing loss, and severe balance issues due to missing semicircular canals. Early intervention with specialized therapists, known as interveners, is crucial to help children develop communication skills.

For most children, the world is understood through five distinct senses. For a child with CHARGE syndrome, those sensory inputs can be “scrambled” or diminished. Understanding how your child experiences sight, sound, and balance is the first step in helping them make sense of their environment [1][2].

Vision: The Impact of Coloboma

A coloboma is a gap or “notch” in the structure of the eye [3]. It is often described as the eye looking like a “keyhole.” The sensory impact depends entirely on where that gap is located:

  • Iris Coloboma: Affects the colored part of the eye. This mostly causes photophobia (extreme sensitivity to light) because the eye cannot properly restrict how much light enters [3].
  • Chorioretinal or Optic Nerve Coloboma: Affects the back of the eye. This can cause “blind spots” or a loss of the upper field of vision [3][4].

Because of these gaps, children with CHARGE often tilt their heads in specific ways to “find” the vision they have.

Hearing: Structural Challenges

Hearing loss in CHARGE is complex because it can involve the outer, middle, and inner ear [5][6].

  • Middle Ear: Issues with the tiny bones (ossicles) or frequent fluid buildup can cause conductive hearing loss [7].
  • Inner Ear: The cochlea (the snail-shaped hearing organ) may be smaller than normal (cochlear hypoplasia), leading to sensorineural hearing loss [5][8].

The Complexity of Cochlear Implants (CI)

While cochlear implants can be life-changing, they are more surgically complex in CHARGE syndrome for several reasons:

  1. Abnormal Anatomy: The inner ear may be shaped differently, making it harder to place the electrode [7][9].
  2. The Facial Nerve: In CHARGE, the nerve that moves the face often takes an unusual path through the ear, which the surgeon must carefully navigate [7].
  3. Auditory Nerve: In some cases, the nerve that carries sound to the brain may be very thin or absent [10][11].

Balance: The Missing “Level”

One of the most unique features of CHARGE is the absence or underdevelopment of the semicircular canals [5][12]. In a typical ear, these three loops act like a carpenter’s level, telling the brain where the body is in space.

Without these canals, a child essentially has no internal sense of balance. This is why children with CHARGE often:

  • Have significant delays in sitting, crawling, and walking [13][14].
  • Need to rely heavily on their vision and proprioception (the “feeling” of their muscles and joints) to know they are upright [8][14].
  • May seem “clumsy” or fearful in wide-open spaces where there is nothing to touch.

Understanding “Deafblindness”

In the medical world, “deafblind” does not necessarily mean a child is totally deaf and totally blind. Instead, it describes a dual sensory impairment where the combination of vision and hearing loss creates unique challenges that cannot be met by services designed for only one impairment [1][15].

The Power of Early Intervention

Because a child with CHARGE cannot easily “over-rely” on one sense to make up for another, they need specialized support as early as possible.

  • The Intervener: This is a professional specifically trained in deafblindness. They act as the child’s “eyes and ears,” helping them connect to the world and develop communication [1].
  • Sensory Integration: Occupational and physical therapy can help the child use their remaining senses (like touch and gravity) to navigate their world safely [13].

Advocacy Tip: Do not wait for “failed” tests to seek deafblind services. Early access to specialized communication—whether through tactile sign language, symbols, or modified speech—is the key to unlocking your child’s potential [1][2].

Common questions in this guide

How does a coloboma affect my child's vision?
A coloboma is a gap in the structure of the eye. If it affects the iris, it often causes extreme light sensitivity. If it is located at the back of the eye, it can cause blind spots and a loss of upper vision, which is why children may tilt their heads to see clearly.
Why are cochlear implants more complicated for children with CHARGE syndrome?
Cochlear implants are surgically challenging in CHARGE syndrome because the inner ear anatomy is often abnormal. Additionally, the facial nerve may take an unusual path through the ear, and the auditory nerve that carries sound to the brain may be very thin or entirely absent.
Why does my child with CHARGE syndrome have balance issues?
Children with CHARGE often lack semicircular canals in the inner ear, which function as the body's internal balance system. Without them, children have no natural sense of balance and must rely on their vision and muscle awareness to stay upright, leading to motor delays.
What does deafblindness mean in CHARGE syndrome?
In the medical community, deafblindness usually describes a dual sensory impairment rather than total blindness and total deafness. It means the specific combination of vision and hearing loss creates unique challenges that require specialized support and early intervention.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How extensive is my child's coloboma, and does it affect the optic nerve or the macula (central vision)?
  2. 2.Does my child have a cochlear nerve, and is it large enough to support a cochlear implant?
  3. 3.What is the position of the facial nerve? How does this change the surgical plan for an implant or ear surgery?
  4. 4.How will the absence of semicircular canals affect my child's ability to reach motor milestones like sitting and walking?
  5. 5.Can you refer us to a specialist in 'deafblindness' or an 'intervener' to help coordinate my child's sensory needs?

Questions For You

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References

References (15)
  1. 1

    Development of the International Classification of Functioning, Disability and Health Core Sets for children and youth with deafblindness: protocol for a multistudy collaboration across regions of WHO.

    Dumassais S, Wittich W

    BMJ open 2025; (15(4)):e100155 doi:10.1136/bmjopen-2025-100155.

    PMID: 40194874
  2. 2

    The International Classification of Functioning, Disability and Health (ICF) core sets for deafblindness, part II of the systematic review: linking data to the ICF categories.

    Jaiswal A, Paramasivam A, Budhiraja S, et al.

    European journal of physical and rehabilitation medicine 2024; (60(5)):893-902 doi:10.23736/S1973-9087.24.07984-X.

    PMID: 39235255
  3. 3

    Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.

    Wineland A, Menezes MD, Shimony JS, et al.

    JAMA otolaryngology-- head & neck surgery 2017; (143(2)):168-177 doi:10.1001/jamaoto.2016.3175.

    PMID: 27832265
  4. 4

    Lacrimal drainage system involvement in CHARGE syndrome: a two-case report.

    Alnuman R, Alhumaid F, Diab MM

    Orbit (Amsterdam, Netherlands) 2026; (45(3)):456-460 doi:10.1080/01676830.2026.2632699.

    PMID: 41700357
  5. 5

    Detailed analysis of inner ear malformations in CHARGE syndrome patients - correlation with audiological results and proposal for computed tomography scans evaluation methodology.

    Szleper A, Lachowska M, Wojciechowski T, Pronicka-Iwanicka K

    Brazilian journal of otorhinolaryngology 2024; (90(2)):101383 doi:10.1016/j.bjorl.2023.101383.

    PMID: 38219448
  6. 6

    The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.

    Lewis MA, Juliano A, Robson C, et al.

    Neuroradiology 2023; (65(4)):819-834 doi:10.1007/s00234-023-03118-9.

    PMID: 36715725
  7. 7

    Systematic review of cochlear implantation in CHARGE syndrome.

    Amin N, Sethukumar P, Pai I, et al.

    Cochlear implants international 2019; (20(5)):266-280 doi:10.1080/14670100.2019.1634857.

    PMID: 31282293
  8. 8

    Otopathologic Abnormalities in CHARGE Syndrome.

    da Costa Monsanto R, Knoll RM, de Oliveira Penido N, et al.

    Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2022; (166(2)):363-372 doi:10.1177/01945998211008911.

    PMID: 33874787
  9. 9

    A Systematic Review of Intraoperative X-Ray Images in Cochlear Implant.

    Abbasi Z, Khoshsirat S, Khajavi M

    Ear, nose, & throat journal 2025; 1455613251366053 doi:10.1177/01455613251366053.

    PMID: 40887710
  10. 10

    Phoneme discrimination and localization performance in children with cochlear implants and contralateral auditory brainstem implants with inner ear malformations.

    Uzun ED, Batuk MO, Sennaroglu G, Sennaroglu L

    European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2025; (282(11)):5581-5595 doi:10.1007/s00405-025-09474-x.

    PMID: 40447794
  11. 11

    Factors that influence performance in pediatric cochlear implant recipients with cochlear nerve deficiency.

    Thompson NJ, Park LR, O'Connell BP, et al.

    Cochlear implants international 2024; (25(3)):191-196 doi:10.1080/14670100.2024.2316457.

    PMID: 38353257
  12. 12

    Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

    Legendre M, Abadie V, Attié-Bitach T, et al.

    American journal of medical genetics. Part C, Seminars in medical genetics 2017; (175(4)):417-430 doi:10.1002/ajmg.c.31591.

    PMID: 29178447
  13. 13

    Gross motor skill performance in children with and without CHARGE syndrome: Research to practice.

    Haibach-Beach P, Perreault M, Foster E, Lieberman L

    Research in developmental disabilities 2019; (91()):103423 doi:10.1016/j.ridd.2019.05.002.

    PMID: 31238243
  14. 14

    Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis.

    Thomas AT, Waite J, Williams CA, et al.

    Journal of neurodevelopmental disorders 2022; (14(1)):49 doi:10.1186/s11689-022-09459-5.

    PMID: 36045324
  15. 15

    Inherited causes of combined vision and hearing loss: clinical features and molecular genetics.

    Guimaraes TAC, Arram E, Shakarchi AF, et al.

    The British journal of ophthalmology 2023; (107(10)):1403-1414 doi:10.1136/bjo-2022-321790.

    PMID: 36162969

This page is for educational purposes only and does not replace professional medical advice. Always consult your child's specialized pediatric care team for decisions regarding surgery, therapy, and intervention.

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