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Abstract
Background:
DDX3X, is a very rare syndrome presenting in Pakistan for the first time. It is due to the second most frequently mutated gene in Neuro developmental delays, accounting for 0.37% of all de novo variants (prevalence of 3.6/100,000). This genetic condition that occurs predominantly in females, and very rarely in males.
Purpose:
The purpose of our study was to assess and report on hearing threshold estimations using objective methods of hearing evaluation. This was a unique opportunity for an audiology department to be part of a multi-disciplinary team for estimating hearing thresholds which form an integral part of the diagnosis of DDX3X.
Research design:
This study is a case report of hearing threshold estimation in a child diagnosed with a DDX3X Syndrome employing objective tests of hearing with the child under oral sedation, oral chloral hydrate (50-60 mg/kg).
Study sample:
A child 2.4 years old, female, second of the two, born to parents with normal hearing was referred to us. The mother denied prematurity, low birth weight, jaundice requiring blood transfusion, consanguinity, ECMO, history of new born hearing screening and NICU stay more than 5 days.
Method:
Otoacoustic emissions was performed by using Interacoustics to evaluate the function of outer hair cells, tympanometry was performed to evaluate any middle ear analysis. Auditory Brainstem Response Audiometry(ABR) was performed to evaluate hearing threshold of the patient.
Results:
Otoacoustic emissions of patient were bilateral Pass, suggesting hearing threshold levels better than 35dBnHL. Tympanometry showed Type A tympanogram suggesting no mid ear pathology. ERA Wave V was traced down to 30 dBnHL in both the ear (clear response) suggesting normal hearing threshold levels with a CR in both ears.
Conclusion:
Our study showed that child with DDX3X Syndrome had normal hearing threshold levels. We advised 6 monthly yearly follow to monitor hearing threshold for the next 2 years. Referral to speech pathology as part of the multi-disciplinary team was also offered. Detailed behavioral and developmental assessment of the child was already undergoing in other specialties of the team.