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GRIN2A: an aptly named gene for speech dysfunction.

Samantha J Turner¹, Angela K Mayes¹, Andrea Verhoeven¹

¹From the Department of Paediatrics (S.J.T., S.A.M., A.T.M., I.E.S.), The University of Melbourne, The Royal Children's Hospital, Parkville; Language and Literacy Group (A.K.M., A.T.M.), Population Health Theme, Murdoch Childrens Research Institute, Parkville; Speech Pathology Department (A.V.), The Royal Children's Hospital, Parkville; Department of Radiology (S.A.M.), The University of Melbourne, Parkville; Epilepsy Research Centre (I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Melbourne; and Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia.

|January 18, 2015

Summary

This summary is machine-generated.

Mutations in the GRIN2A gene cause distinct motor speech deficits, including dysarthria and dyspraxia, impacting intelligibility. These speech issues can occur even without epilepsy, highlighting GRIN2A

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Area of Science:

Neurogenetics
Speech-Language Pathology
Epilepsy Research

Background:

Epilepsy-aphasia syndromes are often linked to GRIN2A gene mutations.
Specific speech deficits in these syndromes have not been fully characterized.

Purpose of the Study:

To define the speech characteristics in individuals with GRIN2A mutations.
To investigate the role of GRIN2A in motor speech function.

Main Methods:

Speech assessments and perceptual analyses were performed on 11 individuals with GRIN2A mutations.
Evaluations included standardized tests and conversational speech samples.

Main Results:

A consistent speech phenotype of dysarthria and dyspraxia was observed.
Key findings included imprecise articulation, impaired pitch and prosody, and hypernasality.
Speech deficits persisted lifelong for some individuals, and were present even without seizures.

Conclusions:

GRIN2A mutations are associated with characteristic dysarthria and dyspraxia, expanding the known phenotype.
The speech phenotype can manifest independently of epilepsy, underscoring GRIN2A's role in motor speech.
Targeted speech assessment and intervention are crucial for improving intelligibility in affected individuals.