MARFAN SYNDROME: INHERITED DISORDER HAS FAR-REACHING EFFECTS

Course overview

You are an occupational therapist working in a school district, and have received a referral to evaluate Henry, a third-grader whose teacher is concerned about his illegible handwriting. On your pre-assessment checklist, the teacher also notes that Henry has poor sitting posture, often seems fatigued, and has a loose pencil grasp. Upon reviewing his school record, you see that Henry has a medical condition called Marfan syndrome. You wonder what this is, and whether it has any bearing on his school performance. Marfan syndrome is one of the most common inherited disorders affecting the body’s connective tissues, particularly in the eyes, skeleton and major blood vessels. A person who has Marfan syndrome is born with the disorder, even though the characteristics of the syndrome may not be evident until later in life. Although each person with Marfan syndrome has a defect in the same gene, not every person with Marfan syndrome experiences the same physical characteristics, and health problems vary among people in terms of their presentation and extent, and often this syndrome goes undiagnosed until adolescence or adulthood. Occupational therapy practitioners working in diverse settings should be well informed about Marfan syndrome so that they can promote early diagnosis and appropriate intervention for this population.