Exploring Hand Function of Children and Adolescent with Heritable Disorders of Connective Tissue.

Abstract

Hand pain and fatigue often manifest in poor hand function for children and adolescents with heritable disorders of connective tissue (HDCT) and associated symptomatic generalised joint hypermobility (GJH). These symptoms are common daily experiences, that if left unaddressed, can negatively impact independence in self-care tasks and participation in school and leisure activities. These have substantial academic, occupational, and social repercussions continuing well into adulthood. There is little guidance about anticipatory management, as natural history studies are scarce for this age group. This thesis aims to provide a comprehensive exploration of the effect of symptoms associated with symptomatic GJH on hand function in children and adolescents with HDCT.

Only one third of parents in a survey of 100 families were always satisfied with their child’s independence in school activities. Parents were more concerned with their child’s slow handwriting speed (71%) than any other school or self-care task. A characterisation study confirms that this cohort has significantly poorer hand function compared to healthy age- matched peers. In fact, a quarter of the 73 participants had grip strength scores >2 SDs below the normative mean illustrating the gravity of this problem. Hand pain and fatigue increased significantly following typical school writing tasks. The presence of upper limb hypermobility, as well as poor grip strength and dexterity, had the greatest negative impact on functional performance.

Despite these findings, a scoping review revealed a lack of high-level evidence supporting the efficacy of interventions to address hand impairment. This prompted the development of a codesign protocol to inform the future design of a hand exercise program to reduce hand pain and fatigue and increase handwriting endurance. This thesis has provided significant preliminary insights into the extent of hand-function difficulties in this population.