Gait and balance in children with inherited metabolic disease

Alsaqer, Dana J. TH. M. (2021). Gait and balance in children with inherited metabolic disease. University of Birmingham. Ph.D.

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Abstract

Inherited metabolic diseases (IMDs) are major class of heterogeneous genetic rare disorders that are caused by a malfunction of one or more pathways of metabolism. Most IMD patients have neurological and musculoskeletal impairments which affect their gait and balance abilities. Therefore, it is vital to find sensitive and objective gait and balance measures that permit patients to be systematically followed and to quantify the effectiveness of existing treatments. In this thesis, the gait and balance parameters of six IMD groups (Niemann Pick type C, Hurler, Morquio, Maroteaux Lamy, Pompe, and Fabry) were assessed and compared to healthy individuals. Parameters were measured using sensitive measurement tools (Zeno Mat and accelerometers).
Results showed that decreased cadence and single support phase as a percentage of the gait cycle were the most frequently affected gait parameters in NP-C, Fabry, and Morquio. Fabry also have an increase in the stance %. Hurler and Maroteaux-Lamy both have decreases in single support %. In addition, Hurler have increased stride % while Maroteaux-Lamy have increased stance %. Pompe showed no abnormalities in gait parameters. There was no evidence of progressive change with height/age in differences between control and patient groups.
Balance sensing and adjustment (as measured by RMS, a proxy for sway area, and by jerk, a measure of smoothness of adjustment) were affected in Hurler, Morquio, and Pompe groups. While in NP-C only the jerk EC/EO difference was affected. Fabry and Maroteaux-Lamy showed no significant differences in balance parameters. There was no evidence of progressive change with height/age in differences between control and patient groups.

Correlations between gait and balance parameters for NP-C and Fabry patients showed that NP-C were similar to controls while Fabry patients showed some abnormalities in some correlations. These findings provide valuable information about gait and balance developmental changes in these diseases, which will help in evaluating the effectiveness of therapeutic interventions.

Type of Work:

Thesis (Doctorates > Ph.D.)

Award Type:

Doctorates > Ph.D.

Supervisor(s):