MED-NERD
Treatment of Pendred Syndrome
The treatment of Pendred syndrome is non-specific and mainly symptomatic treatment based of the clinical presentation of patients.
Management of hearing impairment:
Hearing aids-Cochlear implants if needed.
Risks of Cochlear Implantation:
Risks of cochlear implants are not specific. The prognosis in general is good. Enlarged vestibular aqueduct (EVA) may be a risk for cerebrospinal fluid (CSF) leak.
Avoiding head injury through wearing head protection while doing activities such as skiing or bicycle riding. Avoiding barotrauma which is rapid extreme change in pressure for example hyperbaric oxygen treatment. These measures may reduce the progression of hearing loss.
Communication skills and training:
Cochlear implant does not completely restore healing so, children should learn skills such as sign language and should be trained to use hearing aids.
Management of thyroid disorder:
Medical or surgical treatment based on the thyroid function test and the thyroid gland size.
Genetic counseling:
For testing family members and expect the offspring outcome due to inheritance of the disease.
Therefore, the management of Pendred syndrome require cooperation between endocrinologists, genetic counselor, ENT specialists, speech-language pathologists, and surgeons.
Complications of Pendred syndrome
-Hearing impairment which is progressive with inner ear malfotmations
-Fatal metabolic alkalosis due to renal impairment
-Rarely associated with Hoffmann syndrome
Prognosis of Pendred Syndrome
Although cochlear implantation can provide optimal hearing rehabilitation, hearing impairment in Pendred syndrome is usually progressive and surgery may be difficult due to inner ear abnormalities and malformations. Pendred syndrome may also be associated with goiter or clinical hypothyroidism.Reference:
(1)Garabet Diramerian L, Ejaz S. Pendred Syndrome. 2022 Jun 27. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–.https://www.ncbi.nlm.nih.gov/books/NBK549839/
(2)Smith RJH, Iwasa Y, Schaefer AM. Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct. 1998 Sep 28 [updated 2020 Jun 18]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.
https://www.ncbi.nlm.nih.gov/books/NBK1467/
(3)Gettelfinger JD, Dahl JP. Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics. J Pediatr Genet. 2018 Mar;7(1):1-8.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809162/
(4)Biggs K, Lovett A, Metcalfe C, Muzaffar J, Monksfield P, Bance M. Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis. J Int Adv Otol. 2020 Dec;16(3):432-442.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7901456/
(5)Pendred Syndrome,NIH national institute on deafness Nd other communication disorders
https://www.nidcd.nih.gov/health/pendred-syndrome
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