Abstract
GNAO1 gene mutations are associated with a neurodevelopmental disorder characterized by developmental delay, epilepsy, and movement disorder. Eye tracking and eye movement analysis are an intriguing method to assess cognitive and language function and, to the best of our knowledge, it has never been tested in a standardized way in GNAO1. GNAO1 children are usually wheelchair-bound and with numerous motor constrains, including dystonic movements and postures, heterotropia, and hypotonia, making the cognitive assessment arduous. These contribute to the burden and disability, with a high level of frustration of caregivers and patients. We have herein demonstrated that, through an eye tracking system, six GNAO1 patients evaluated showed variable degrees of communicative intent through intentionally directed gaze. Moreover, three of these were able to complete a cognitive evaluation, and showed normal fluid intelligence and lexical comprehension. In conclusion, in GNAO1-related disorders, the degree of cognitive development is underestimated; eye tracking technologies may help in overcome these boundaries.
Highlights
The GNAO1 gene, located on chromosome 16q13, encodes for an α subunit of the heterotrimeric guanine nucleotide-binding proteins (G proteins)
The cognitive assessment of GNAO1-patients has never been reported in detail, most case series only reporting a descriptive assessment of the cognitive status [4]
We have shown our experience in the language and cognitive assessment of a small cohort of GNAO1 children with severe motor and communication disability
Summary
The GNAO1 gene, located on chromosome 16q13, encodes for an α subunit of the heterotrimeric guanine nucleotide-binding proteins (G proteins). Α subunits bind the guanine nucleotides, and are capable of hydrolyzing guanosine-5-triphosphate as well as interacting with specific receptor and effector molecules. GNAO1-related disorders variably combine severe hyperkinetic movement disorders and/or early onset epilepsy [2]. Movement disorders often precipitate, causing life-threatening emergencies, and epilepsy can be drug-resistant [3]. They are usually associated with significant developmental delay, with severe language impairment and poor motor development [3]. The cognitive assessment of GNAO1-patients has never been reported in detail, most case series only reporting a descriptive assessment of the cognitive status [4]. Commonly used verbal and non-verbal intelligence tests (e.g., Wechsler scales or Raven’s Progressive Matrices) require the respondent either to provide a verbal answer or to point at it
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