How do you Treat DOOR Syndrome?
Antiepileptic medications help to control seizures. The choice of medications depends on the specialist. Regular ECG should be performed to avoid sudden death due to seizures.
Cochlear implants and hearing aids greatly benefit hearing loss. Physical therapy, medical aids, and occupational therapy help with motor dysfunction. Vision impairment, heart issues, and kidney defects are treated as per standard procedures.
Applied behavior analysis helps children with communication and social behavior issues. A developmental pediatrician helps parents to deal with developmental issues in their children. Where applicable, individualized education programs should be created for children with DOOR syndrome. As children grow older and get into adulthood, other government-assistive programs are recommended to help them transition into financial and vocational independence.
Relatives of the affected individual with DOOR syndrome, should be checked for mutations in the TBC1D24 gene. This will indicate if the relatives are prone to progressive deafness and they can adopt precautionary measures.
How can you Prevent DOOR Syndrome?
The condition can be prevented by genetic testing and counseling of family members in affected families.
Genetic testing of siblings and other relatives of individuals affected with DOOR syndrome helps to identify the presence of the affected TBC1D24 gene. Potential hearing loss can be avoided by taking precautionary measures.
Genetic counseling of those affected with TBC1D24 gene mutations will help them to understand the implications of the mutated gene. Carriers are also made aware of the potential risks to their progeny.
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- NORD – National Organization for Rare Disorders. DOOR syndrome. Published 2015; Cited September 4, 2018. - (https://rarediseases.org/rare-diseases/door-syndrome/)
- Mucha BE et al. TBC1D24-Related Disorders. 2015 Feb 26 [Updated 2017 Dec 7]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. - (https://www.ncbi.nlm.nih.gov/books/NBK274566/)
- MedlinePlus. Sensorineural deafness. Updated August 31, 2018. Accessed September 6, 2018. Cited September 6, 2018. - (https://medlineplus.gov/ency/article/003291.htm)
- Orphanet. Doors syndrome. Updated September 2014; Cited September 4, 2018.
- Berkovic SF, Gecz J. Phenotype-genotype complexities: opening DOORS. Lancet Neurol. 2013;Vol.13(1):24-25.
- Campeau PM, Kasperaviciute D, Lu JT, et al. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurology. 2014;13(1):44-58. doi:10.1016/S1474-4422(13)70265-5.
- Rehman A, Friedman T, Griffith A. Unresolved questions regarding human hereditary deafness. Oral diseases. 2017;23(5):551-558. doi:10.1111/odi.12516.
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