Male, age 6, with developmental delay, difficulty swallowing (dysphagia), low muscle tone (hypotonia), and difficulty walking (progressive gait disturbance)
May 08, 2018
After a premature and complicated birth, the participant spent 3 weeks in the NICU recovering from breathing and feeding difficulties as well as sepsis. Early on, the participant had some difficulty with fine motor skills and speech delay. He learned to walk at 17 months, but his knees would hyperextend when he would take steps (gait disturbance). This has become progressively worse over time. The participant currently has decreased/absent ankle and knee reflexes, significant fine motor delays, and requires ankle and foot orthoses (AFOs). In addition, the participant has low muscle tone (hypotonia), weak cartilage in the walls of his larynx (laryngomalacia) and trachea (tracheomalacia), experiences sleep disturbance, and has difficulty swallowing (dysphagia). He also has breathing issues (hypoventiliation and paradoxical breathing) for which he uses a BiPAP machine.
If this participant sounds like you or someone you know, please contact us!
