Facilitating Independence through Radial Deviation Gains in Congenital Titinopathy: A Case Report

Congenital titinopathy is a rare autosomal recessive genetic disorder caused by mutations in the titin gene. As the largest protein in the human body, titin plays an essential role in muscle contraction, sarcomere integrity, and passive force generation. When mutations occur, individuals may present with a wide range of symptoms, from severe lethality to mild adult-onset muscle weakness. In pediatric cases, congenital titinopathy frequently manifests as hypotonia, joint contractures, and overall impaired muscle performance, which directly impacts participation in daily activities and play. Children with congenital titinopathy often experience limitations in gross motor and fine motor skills, endurance, and mobility, leading to reduced independence in activities of daily living (ADLs). Occupational therapy has the potential to make a meaningful difference by addressing strength, endurance, range of motion, and functional performance. In particular, child-centered and play-based approaches can increase engagement, repetition, and neuroplasticity. This case report explores non-traditional occupational therapy interventions and assessments designed to promote independence in a young child with congenital titinopathy. The client is a 3.5-year-old female diagnosed with congenital titinopathy at birth. Early complications included fractures of the right femur and left humerus. Clinical presentation includes global hypotonia, mild scoliosis, and wrists resting in ulnar deviation. She currently wears a thoracolumbar sacral orthosis (TLSO) to support spinal alignment during activity and bilateral ankle-foot orthoses (AFOs) to promote stability in functional mobility. The client participates in occupational therapy twice weekly, focusing on building strength, encouraging radial wrist positioning, and enhancing independence in play and self-care. She lives with her parents in a two-story home and has access to multiple pieces of adaptive equipment including an indoor/outdoor power wheelchair, stander, activity chair, Kaye benches, and a Rifton bath chair. Her mother is the primary caregiver, attends every therapy session, and actively implements therapy strategies at home. To capture baseline performance and motivation, a non-traditional assessment was created using a toy hammer and golf tees inserted into a cardboard box. This tool measured time, number of hits, and change in tee depth per hit, while also functioning as a motivating, play-based task. Baseline results showed the left hand completed the activity faster with more hits, while the right hand achieved greater depth per strike. These findings provided a foundation for targeted interventions. Intervention goals were developed to increase wrist radial deviation strength and activity tolerance, thereby supporting participation in play and ADLs. Specific targets included improving average tee depth per hit with the right upper extremity and increasing independence in dressing tasks. Play-based interventions were designed around the client's preferences, including fishing games, hammering activities such as "Don't Break the Ice," and marble pouring tasks. Strategies emphasized isolated wrist movement while reducing compensatory use of the elbow and shoulder. Supportive methods included forearm stabilization on a Kaye bench, hand-over-hand facilitation, and temporary use of elbow immobilizers. Motivation was sustained through the use of preferred toys, child-friendly terminology, and caregiver encouragement. Reassessment demonstrated significant improvements in the right (dominant) hand, with faster performance, increased accuracy, and greater depth per hit.