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Case Study

Case Study. 9 month old Female Apert syndrome. Apert Syndrome. Major Features of Apert Syndrome Prematurely fused cranial sutures A retruded midface Fused fingers Fused toes. Apert Syndrome is a genetic defect and falls under the broad classification of craniofacial/limb anomalies.

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Case Study

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  1. Case Study 9 month old Female Apert syndrome

  2. Apert Syndrome Major Features of Apert Syndrome Prematurely fused cranial sutures A retrudedmidface Fused fingers Fused toes

  3. Apert Syndrome is a genetic defect and falls under the broad classification of craniofacial/limb anomalies. It can be inherited from a parent who has Apert, or may be a fresh mutation. It occurs in approximately 1 per 160,000 to 200,000 live births. Apert syndrome is primarily characterized by specific malformations of the skull, midface, hands, and feet. The skull is prematurely fused and unable to grow normally; the midface (that area of the face from the middle of the eye socket to the upper jaw) appears retruded or sunken; and the fingers and toes are fused together in varying degrees. Apert syndrome is named for the French physician who first described it, E. Apert, in 1906.

  4. Health Risks of Apert Syndrome Besides the physical characteristics, other health risks are also associated with Apert Syndrome. These conditions and their severity vary from patient to patient. These conditions can include: Cleft palate. About 30% of children with Apert Syndrome are affected. Slower learning rates and abilities. About 50% of children with Apert Syndrome are affected; however, as the children grow older, they often catch up with their peers. Vision. Problems can occur due to imbalance of the eye muscles. Ear infections. Children with Apert Syndrome are often inclined towards recurrent ear infections, which can lead to hearing loss. Breathing and sleep problems. The smaller nose and airway passages may make breathing difficult. Sleep apnea can occur frequently. Sweating. Hyperactive sweat glands may cause your child to sweat a lot, especially while sleeping. Acne. Problems with acne are more likely, especially during puberty.

  5. Apert Syndrome Treatments Apert syndrome has no known cure. Surgery to correct the abnormal connections between bones is the main treatment for Apert syndrome. In general, surgery for Apert syndrome takes place in three steps: 1. Release of skull bone fusion (craniosynostosis release). A surgeon separates the abnormally fused skull bones and partially rearranges some of them. This surgery is usually performed when a child is between 6 and 8 months old. 2. Midface advancement. As the child with Apert syndrome grows, the facial bones again become misaligned. A surgeon cuts the bones in the jaw and cheeks and brings them forward into a more normal position. This surgery may be done at any time between 4 and 12 years of age. Additional corrective surgery may be needed, especially when midface advancement is done at a young age. 3. Correction of wide-set eyes (hypertelorism correction). A surgeon removes a wedge of bone in the skull between the eyes. The surgeon brings the eye sockets closer together, and may adjust the jaw too.

  6. Who is currently involved Occupational Therapy 2x/month Physical Therapy 2x per month Vision Services 1x Hearing Services 1x Service Coordination Team C

  7. Focus of Therapy • Initially: • Positioning • Range of Motion • Breast feeding/bottle feeding • Hand use • Currently: • Checking in with feeding • Playing in sitting • Selecting toys that she can play with more easily with current hand position • Transitions • Positioning for play at home

  8. Embedding Interventions • Embedded intervention includes the use of intentional teaching strategies to address a specific learning goal within the context of everyday activities, routines, and transitions at home, at school, or in the community. • Principles of embedding interventions • assumes collaborative planning • occurs within daily routines • uses childhood activity as instructional and therapeutic media • works within dynamic system of child, activity, and/or environment

  9. Embedding Interventions • Watch family during feeding time and coach them on more effective strategies or just praise their existing efforts. • Show them how to use some therapeutic strategies within playtime • When she falls over what is the best well to help her get back up so that she learns that method. • When she wants a toy that is out of reach teach her how to move toward than toy. • Have the family position her in her different play places and see how we can expand on these positions.

  10. Special Considerations Family is from another country Parents are highly educated Mother Father involvement First Child/Very protective

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