Upper Limb Impairments are Common in Pediatric Hereditary Spastic Paraparesis
Michelle Christie1, Linsley Smith2, Lane Wimberly3, Angela Shierk4
1Neurology, Texas Scottish Rite Hospital, 2Neurology, 3Orthopedics, 4Occupational Therapy, Scottish Rite for Children
Objective:

Assess upper limb function in pediatric hereditary spastic paraparesis (HSP)

Background:

HSP is a heterogenous, inherited disorder characterized by lower extremity weakness and spasticity. The impact of the condition on upper limb function is not reported.

Design/Methods:
A prospective registry from a pediatric tertiary center was reviewed and patients with genetically confirmed HSP and documented upper limb function between 1999-2024 were included in the analysis. 
Results:

100 participants (M=57, F=43), mean age 9yrs 11mo (11mo-23yrs 4mo) met inclusion criteria. Identified genes included SPG4 (n=36), SPG3A (n=18), and 46 other known HSP SPG subtypes. Over half of the HSP cohort (63%, n=63/100) presented with upper limb involvement, including increased tone (n=16/98), decreased strength (n=23/92), diminished sensation[AS1] [AS2]  (n=26/65), and decreased motor coordination (n=18/69). In those with serial exams, 14% (n=14/100) demonstrated a deterioration in upper limb function over serial visits.

Chi-square tests were used to analyze associations. There were no statistically significant associations between upper limb involvement and gene type [X2 (18, N=100) =15.84, p=0.60] or strength and gene type [X2 (18, N=92) =26.26, p=0.09]. There were statistically significant associations between spasticity and gene type [X2 (18, N=98) =38.42, p=0.003] and Gross Motor Function Classification System (GMFCS) equivalency levels and upper limb involvement [X2 (4, N=84) =15.05, p=0.005]. All the individuals with lower gross motor abilities (IV and V) exhibited upper limb impairments. 57% GMFCS equivalent I-III showed upper limb involvement, primarily characterized by decreased motor coordination, leading to challenges with functional tasks such as handwriting, fastening buttons, tying shoes, and manipulating small objects.

Conclusions:
Over half of the HSP cohort exhibited upper limb involvement with a portion of individuals presenting with a decline in upper limb function. This work highlights the importance of evaluating upper limb function in individuals with HSP and the need to monitor for deterioration in upper limb function.
10.1212/WNL.0000000000210575
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