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Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21
Jennifer M Katzenstein1, John S Oghalai, Ross Tonini
1Indiana University-Purdue University, Indianapolis, IN, USA.
Insights
This case study examines a child with trisomy 6 and monosomy 21 genetic abnormalities and profound hearing loss. Cochlear implantation showed some skill improvement, though oral language development remains limited.
Area of Science:
- Genetics
- Neuroscience
- Audiology
Background:
- A child with trisomy 6 and monosomy 21 genetic abnormalities was evaluated for profound sensorineural hearing loss.
- The evaluation was part of the standard medical protocol for cochlear implantation.
Observation:
- Neurocognitive testing was performed before cochlear implantation and 12 months after activation.
- The child presented with limited oral language development.
Findings:
- Post-cochlear implant activation, the child demonstrated improvement in overall neurocognitive skills.
- The observed skill improvement was less than what is typically expected for a developing child.
Implications:
- Cochlear implantation may offer benefits for neurocognitive development in children with complex genetic abnormalities and hearing loss.
- Further research is needed to understand the long-term neurocognitive outcomes and optimize interventions for this population.
Abstract:
This case study describes the neurocognitive presentation of a child with identified genetic abnormalities of trisomy 6 and monosomy 21 who was evaluated as part of a standard medical protocol for cochlear implantation following diagnosis of profound sensorineural hearing loss. This child received neurocognitive testing prior to cochlear implantation and approximately 12 months post-activation of his cochlear implant. While he has not fully developed oral language, his presentation suggested improvement in overall skills since the activation of the cochlear implant; however, less than would be expected for a typically developing child.
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