Williams-Beuren Syndrome Essay
William’s Syndrome is caused by a spontaneous deletion of 26-28 genes on chromosome 7, the "Williams syndrome critical area.” The deletion occurs at the time of conception and not caused by any aspect of the parent’s lifestyle prior to or during the pregnancy period.
The main diagnostic tool for Williams Syndrome …show more content…
• Kidney abnormalities
• Hyperacusis (sensitive hearing)
• Hypercalcemia (elevated blood calcium levels)
• Low birth-weight / slow weight gain
• Overly friendly (excessively social) personality
• Developmental delay, learning disabilities and attention deficit disorder.
Course of Disease
No true course of the disease, it is a genetic disorder causing the signs and symptoms.
• Physical Therapy o Gross motor developmental delays and development is the primary concern. o Often present with hypotonia, stiffness, gait deviations, poor postural control/ alignment and poor balance.
• Occupational Therapy o Visual-spatial deficits, problems with fine motor control, sensory sensitivities, self-regulation, social skills, and feeding.
• Physical Therapy o Focus is on strength, stretching, improving muscle tone, joint range of motion, neuromuscular re-education, and neuromuscular stabilization. o Specific strategies include physioball activities for trunk and core strength and stability, massage, electrical