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Deaf-Blind Disorders

MedGen UID:
408188
•Concept ID:
C1955603
•
Disease or Syndrome
Synonyms: Blind Deaf Disorders; Blind-Deaf Disorder; Blind-Deaf Disorders; Blindness Deafness; Blindness-Deafness; Deaf Blind Disorders; Deaf Blindness Disorders; Deaf-Blind Disorder; Deaf-Blindness Disorder; Deaf-Blindness Disorders; Deafness Blindness; Deafness-Blindness; Disorder, Blind-Deaf; Disorder, Deaf-Blind; Disorder, Deaf-Blindness; Disorders, Blind-Deaf; Disorders, Deaf-Blind; Disorders, Deaf-Blindness; Hearing and Vision Loss; Vision and Hearing Loss

Definition

The absence of both hearing and vision. [from MeSH]

Professional guidelines

PubMed

Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML
J Clin Immunol 2023 Feb;43(2):247-270. Epub 2023 Jan 17 doi: 10.1007/s10875-022-01418-y. PMID: 36648576Free PMC Article
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Wolfram Syndrome: Diagnosis, Management, and Treatment.
Urano F
Curr Diab Rep 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6. PMID: 26742931Free PMC Article

Recent clinical studies

Etiology

Is there a correlation between sensory impairments and social isolation in middle-aged and older Chinese population? Cross-sectional and longitudinal evidence from a nationally representative survey.
Liu Y, Sun Q, Abuduxukuer K, Hou Y, Wei J, Liu H, Luo J, Gao G, Zhou Y
Front Public Health 2023;11:1098109. Epub 2023 Mar 27 doi: 10.3389/fpubh.2023.1098109. PMID: 37050954Free PMC Article
Sensory impairments and subjective well-being status in middle-aged and older Chinese population: Cross-sectional and longitudinal analyses of a nationally representative survey.
Zhou Y, Lu Y, Liu Y, Hou Y, Qian X, Abuduxukuer K, Xiang M, Peng Q, Luo J
Front Public Health 2023;11:1099754. Epub 2023 Mar 16 doi: 10.3389/fpubh.2023.1099754. PMID: 37006552Free PMC Article
Phenotypic characterization of retinitis pigmentosa associated with deafness.
Paredes ÁC, López G, Gelvez N, Tamayo ML
Biomedica 2022 May 1;42(Sp. 1):130-143. doi: 10.7705/biomedica.6129. PMID: 35866736Free PMC Article
Spatial biases in deaf, blind, and deafblind individuals as revealed by a haptic line bisection task.
Cattaneo Z, Rinaldi L, Geraci C, Cecchetto C, Papagno C
Q J Exp Psychol (Hove) 2018 Nov;71(11):2325-2333. Epub 2018 Jan 1 doi: 10.1177/1747021817741288. PMID: 30362405
Deafblindness: a review of the literature.
Dammeyer J
Scand J Public Health 2014 Nov;42(7):554-62. Epub 2014 Aug 11 doi: 10.1177/1403494814544399. PMID: 25114064

Diagnosis

Inherited causes of combined vision and hearing loss: clinical features and molecular genetics.
Guimaraes TAC, Arram E, Shakarchi AF, Georgiou M, Michaelides M
Br J Ophthalmol 2023 Oct;107(10):1403-1414. Epub 2022 Sep 26 doi: 10.1136/bjo-2022-321790. PMID: 36162969
Phenotypic characterization of retinitis pigmentosa associated with deafness.
Paredes ÁC, López G, Gelvez N, Tamayo ML
Biomedica 2022 May 1;42(Sp. 1):130-143. doi: 10.7705/biomedica.6129. PMID: 35866736Free PMC Article
Clinical genetics, practice, and research of deafblindness: From uncollected experiences to the national registry in Japan.
Matsunaga T
Auris Nasus Larynx 2021 Apr;48(2):185-193. Epub 2020 Aug 26 doi: 10.1016/j.anl.2020.08.017. PMID: 32859446
Identifying and Managing Hearing and Vision Loss in Older People in Care Homes: A Scoping Review of the Evidence.
Andrusjak W, Barbosa A, Mountain G
Gerontologist 2020 Apr 2;60(3):e155-e168. doi: 10.1093/geront/gnz087. PMID: 31322168
Effect of dual sensory loss on auditory localization: implications for intervention.
Simon HJ, Levitt H
Trends Amplif 2007 Dec;11(4):259-72. doi: 10.1177/1084713807308209. PMID: 18003869Free PMC Article

Therapy

Effectiveness of a nurse-supported self-management programme for dual sensory impaired older adults in long-term care: a cluster randomised controlled trial.
Roets-Merken LM, Zuidema SU, Vernooij-Dassen MJFJ, Teerenstra S, Hermsen PGJM, Kempen GIJM, Graff MJL
BMJ Open 2018 Jan 24;8(1):e016674. doi: 10.1136/bmjopen-2017-016674. PMID: 29371264Free PMC Article
Horseback riding therapy for a deafblind individual enabled by a haptic interface.
Ogrinc M, Farkhatdinov I, Walker R, Burdet E
Assist Technol 2018;30(3):143-150. Epub 2017 Mar 27 doi: 10.1080/10400435.2017.1288178. PMID: 28346067
Effects of a Dual Sensory Loss Protocol on Hearing Aid Outcomes: A Randomized Controlled Trial.
Vreeken HL, van Rens GH, Kramer SE, Knol DL, van Nispen RM
Ear Hear 2015 Jul-Aug;36(4):e166-75. doi: 10.1097/AUD.0000000000000153. PMID: 25738573
A report on 15 years of clinical negligence claims in rhinology.
Geyton T, Odutoye T, Mathew R
Am J Rhinol Allergy 2014 Nov-Dec;28(6):219-23. doi: 10.2500/ajra.2014.28.4118. PMID: 25514478
Reliability of standardized assessment for adults who are deafblind.
Guthrie DM, Pitman R, Stolee P, Strong G, Poss J, Tjam EY, Bowman L, Ashworth M, Hirdes JP
J Rehabil Res Dev 2011;48(5):545-54. doi: 10.1682/jrrd.2010.09.0175. PMID: 21674404

Prognosis

Prevalence and characteristics of hearing and vision loss in preschool children from low income South African communities: results of a screening program of 10,390 children.
Eksteen S, Eikelboom RH, Kuper H, Launer S, Swanepoel W
BMC Pediatr 2022 Jan 5;22(1):22. doi: 10.1186/s12887-021-03095-z. PMID: 34986809Free PMC Article
A relationship-focused investigation of spousal psychological adjustment to dual-sensory loss.
Lehane CM, Elsass P, Hovaldt HB, Dammeyer J
Aging Ment Health 2018 Mar;22(3):397-404. Epub 2016 Dec 15 doi: 10.1080/13607863.2016.1268091. PMID: 27976917
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB
Ann Neurol 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110. PMID: 29205472Free PMC Article
Gerstmann-Sträussler-Scheinker disease with atypical presentation.
Keuss SE, Ironside JW, O'Riordan J
BMJ Case Rep 2017 Nov 1;2017 doi: 10.1136/bcr-2017-220907. PMID: 29092967Free PMC Article
Hearing assistive technology considerations for older individuals with dual sensory loss.
Kricos PB
Trends Amplif 2007 Dec;11(4):273-9. doi: 10.1177/1084713807304363. PMID: 18080391Free PMC Article

Clinical prediction guides

Prevalence and characteristics of hearing and vision loss in preschool children from low income South African communities: results of a screening program of 10,390 children.
Eksteen S, Eikelboom RH, Kuper H, Launer S, Swanepoel W
BMC Pediatr 2022 Jan 5;22(1):22. doi: 10.1186/s12887-021-03095-z. PMID: 34986809Free PMC Article
Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.
Wang H, Wang L, Yang J, Yin L, Lan L, Li J, Zhang Q, Wang D, Guan J, Wang Q
BMC Med Genet 2019 Jan 11;20(1):11. doi: 10.1186/s12881-018-0741-3. PMID: 30634948Free PMC Article
The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, Bhatia KP
Mov Disord 2013 Jun;28(6):795-803. Epub 2013 Feb 15 doi: 10.1002/mds.25394. PMID: 23418071
Mental and behavioral disorders among people with congenital deafblindness.
Dammeyer J
Res Dev Disabil 2011 Mar-Apr;32(2):571-5. Epub 2011 Jan 11 doi: 10.1016/j.ridd.2010.12.019. PMID: 21227639
Hearing assistive technology considerations for older individuals with dual sensory loss.
Kricos PB
Trends Amplif 2007 Dec;11(4):273-9. doi: 10.1177/1084713807304363. PMID: 18080391Free PMC Article

Recent systematic reviews

The relationship between sensory loss and health literacy in older adults: A systematic review.
Wallace LG, Bradway CK, Cacchione PZ
Geriatr Nurs 2022 Sep-Oct;47:1-12. Epub 2022 Jun 29 doi: 10.1016/j.gerinurse.2022.06.003. PMID: 35779376Free PMC Article
Device abandonment in deafblindness: a scoping review of the intersection of functionality and usability through the International Classification of Functioning, Disability and Health lens.
Wittich W, Granberg S, Wahlqvist M, Pichora-Fuller MK, Mäki-Torkko E
BMJ Open 2021 Jan 25;11(1):e044873. doi: 10.1136/bmjopen-2020-044873. PMID: 33495263Free PMC Article
Systematic review: Investigating the effectiveness of assistive technology to enable internet access for individuals with deafblindness.
Perfect E, Jaiswal A, Davies TC
Assist Technol 2019;31(5):276-285. Epub 2018 May 17 doi: 10.1080/10400435.2018.1445136. PMID: 29482473
Definitions of deafblindness and congenital deafblindness.
Ask Larsen F, Damen S
Res Dev Disabil 2014 Oct;35(10):2568-76. Epub 2014 Jul 10 doi: 10.1016/j.ridd.2014.05.029. PMID: 25016162
Long-term neurodevelopmental outcomes after intrauterine and neonatal insults: a systematic review.
Mwaniki MK, Atieno M, Lawn JE, Newton CR
Lancet 2012 Feb 4;379(9814):445-52. Epub 2012 Jan 13 doi: 10.1016/S0140-6736(11)61577-8. PMID: 22244654Free PMC Article

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