Williams-Beuren Syndrome Essay

969 Words 4 Pages
William’s Syndrome (WS) or Williams-Beuren Syndrome (WBS) is a condition that is genetic in origin, is present at birth, and affects males and females equally. Individuals with this syndrome have ongoing medical problems, which may include cardiovascular disease, developmental delays and learning disabilities. Individuals with WS are highly sociable, friendly, and endearing but cannot always understand social cues.

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.

Diagnosis
The main diagnostic tool for Williams Syndrome
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• Dental abnormalities o Slightly small, widely spaced teeth. o Variety of abnormalities of occlusion (bite), tooth shape, or appearance. o Most dental changes are readily amenable to orthodontic correction.
• Kidney abnormalities
• Hernias
• 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.

Primary Concerns
• 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.

Treatment Strategies
• 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

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