9 MONTH OLDFEMALE

APERT SYNDROME

Case Study

Apert Syndrome

Major Features of Apert SyndromePrematurely fused cranial suturesA retruded midfaceFused fingersFused toes

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.

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.

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.

Who is currently involved

Occupational Therapy 2x/monthPhysical Therapy 2x per monthVision Services 1xHearing Services 1xService Coordination Team C

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

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 interventionsassumes collaborative planningoccurs within daily routinesuses childhood activity as instructional and therapeutic mediaworks within dynamic system of child, activity, and/or environment

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.

Special Considerations

Family is from another countryParents are highly educatedMother Father involvementFirst Child/Very protective