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Muscle Characteristics in Pediatric Hereditary Spastic Paraplegia vs. Bilateral Spastic Cerebral Palsy: An
Nathalie De Beukelaer1,2, Lynn Bar-On3, Britta Hanssen1,2
1KU Leuven Department of Rehabilitation Sciences, Leuven, Belgium.
Insights
This study found that children with hereditary spastic paraplegia (HSP) have smaller medial gastrocnemius muscles and similar hyperreflexia compared to those with spastic cerebral palsy (SCP). These findings suggest similar treatment approaches may benefit both pediatric neurological conditions.
Area of Science:
- Neurology
- Genetics
- Pediatrics
- Biomedical Engineering
Background:
- Hereditary spastic paraplegia (HSP) is a genetic neurological disorder causing lower limb spasticity and weakness.
- Pediatric HSP shares clinical similarities with bilateral spastic cerebral palsy (SCP), suggesting potentially analogous treatment strategies.
- Previous research quantified altered muscle characteristics in SCP, but not in pediatric HSP.
Purpose of the Study:
- To explore medial gastrocnemius (MG) muscle characteristics in children with HSP.
- To compare MG muscle data between children with HSP, SCP, and typically developing (TD) children.
- To test the hypothesis that MG muscle data differ between these groups.
Main Methods:
- Retrospective enrollment of 41 children: 9 with HSP, 17 with SCP, and 15 TD.
- Utilized 3D-freehand ultrasound (3DfUS) to assess MG muscle volume.
- Employed instrumented assessments for hyperreflexia and muscle activity during stretches.
Main Results:
- Children with HSP exhibited significantly more severe ankle clonus than those with SCP (p = 0.009).
- Both HSP and SCP groups showed significantly reduced normalized MG muscle volume compared to TD children (p ≤ 0.001).
- Hyperreflexia did not significantly differ between HSP and SCP groups; HSP showed a trend towards higher velocity-dependent muscle activity.
Conclusions:
- This is the first study to identify MG muscle volume deficits in pediatric HSP.
- Pediatric HSP presents with high-velocity-dependent hyperreflexia and ankle clonus, similar to SCP.
- Altered MG muscle characteristics in pediatric HSP appear comparable to bilateral SCP, supporting the potential for analogous therapeutic interventions.
Abstract:
Hereditary spastic paraplegia (HSP) is a neurological, genetic disorder that predominantly presents with lower limb spasticity and muscle weakness. Pediatric pure HSP types with infancy or childhood symptom onset resemble in clinical presentation to children with bilateral spastic cerebral palsy (SCP). Hence, treatment approaches in these patient groups are analogous. Altered muscle characteristics, including reduced medial gastrocnemius (MG) muscle growth and hyperreflexia have been quantified in children with SCP, using 3D-freehand ultrasound (3DfUS) and instrumented assessments of hyperreflexia, respectively. However, these muscle data have not yet been studied in children with HSP. Therefore, we aimed to explore these MG muscle characteristics in HSP and to test the hypothesis that these data differ from those of children with SCP and typically developing (TD) children. A total of 41 children were retrospectively enrolled including (1) nine children with HSP (ages of 9-17 years with gross motor function levels I and II), (2) 17 age-and severity-matched SCP children, and (3) 15 age-matched typically developing children (TD). Clinically, children with HSP showed significantly increased presence and severity of ankle clonus compared with SCP (p = 0.009). Compared with TD, both HSP and SCP had significantly smaller MG muscle volume normalized to body mass (p ≤ 0.001). Hyperreflexia did not significantly differ between the HSP and SCP group. In addition to the observed pathological muscle activity for both the low-velocity and the change in high-velocity and low-velocity stretches in the two groups, children with HSP tended to present higher muscle activity in response to increased stretch velocity compared with those with SCP. This exploratory study is the first to reveal MG muscle volume deficits in children with HSP. Moreover, high-velocity-dependent hyperreflexia and ankle clonus is observed in children with HSP. Instrumented impairment assessments suggested similar altered MG muscle characteristics in pure HSP type with pediatric onset compared to bilateral SCP. This finding needs to be confirmed in larger sample sizes. Hence, the study results might indicate analogous treatment approaches in these two patient groups.
