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Abstract Details

A Neurological Assessment Scale For Infantile Neuroaxonal Dystrophy
Child Neurology and Developmental Neurology
P13 - Poster Session 13 (5:30 PM-6:30 PM)
5-009
To create and validate a neurological assessment score for Infantile Neuroaxonal Dystrophy (INAD)

INAD is an autosomal recessive neurogenetic disorder caused by biallelic pathogenic variants in PLA2G6.  The downstream enzyme, iPLA2, plays a critical role in cell membrane homeostasis by helping to regulate levels of phospholipids. The clinical presentation occurs between 6 months and 3 years with global developmental regression, hypotonia, and progressive spastic tetraparesis. Progression is often rapid resulting in severe spasticity, visual impairment, and cognitive decline, with many children not surviving past the first decade of life. To date, no accepted tool for assessing the severity of INAD exists; other commonly used scales (e.g. CHOP-INTEND, Modified Ashworth, Hammersmith Functional Motor Scale) do not accurately gauge current severity of INAD nor are they sensitive/specific enough to monitor disease progression. 

We have developed and validated a structured neurological exam for INAD (scored out of 80). The examination includes five main categories of pediatric developmental evaluation: 1) gross motor-and-truncal-stability skills, 2) fine motor skills, 3) bulbar function, 4) ocular function, 5) temporo-frontal function, and a functional evaluation of the autonomic nervous system. A cohort of patients diagnosed with INAD were followed prospectively to validate the score against disease severity and disease progression. The neurological examinations are performed by the same examiner, under identical circumstances for each examination when possible, and under well-lit conditions with video recording and description. 
We show significant correlation between the total neurological assessment score and months since symptom onset with a statistically significant (p <0.005) correlation between assessment score and disease onset. As hypothesized, the coefficient of months-since -symptom-onset is strongly negative, indicating a negative correlation between total score and months since symptom onset.
We have developed and validated a novel neurological assessment score in INAD that demonstrates strong correlation with disease severity and disease progression.  
Authors/Disclosures

PRESENTER
No disclosure on file
Frederic Heerinckx, PharmD (Retrotope, Inc.) No disclosure on file
Mark Midei, MD (Retrotope) Dr. Midei has received personal compensation for serving as an employee of Retrotope. Dr. Midei has received stock or an ownership interest from Retrotope.
No disclosure on file