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This section provides an update of cases we feel will be of interest to the TelAbility community. To see a list of cases in our archive, click here.

 
WATCH Case Study-CHARGE Syndrome
Date: 11/28/2006
 
Author: Nazaly Miller, PT, Easter Seals UCP-Children's Therapy Services

Emma is a beautiful 3 year old girl with long dark hair, big blue eyes and a winning smile. She has many of the features of CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness) although testing for this syndrome was negative. Emma has visual impairment affecting her right eye more than her left, choaneal astresia, genitourinary abnormalities, and global developmental delays. She had a tracheotomy from birth until March of this year. Emma sustained a grade III intraventicular hemorrhage as a newborn and she has a VP (Ventriculo-Peritoneal) shunt. She has had surgery to open her nasal passages and recently had tubes put in her ears. Emma?s muscle tone is mildly low, mostly at her feet and ankles. She has severe hind foot eversion and forefoot abduction in weight bearing and wears supramalleolar AFO?s during the day (#4 DAFO?s). Emma also has a progressive scoliosis convex to the right which is at 30 degrees. She wears a body jacket at night.

Emma?s motor development has been slow, but sequential. She learned to sit independently and roll prone to and from supine at about 15 months of age. At 24-26 months she learned to transition sit to and from quadruped and started creeping several months after that. She started cruising this past summer, but only cruises to the left. She does not like moving to the right probably because of her visual impairment. Emma still requires minimal assistance to pull to stand, but will lower herself to sit with both hands holding onto furniture. She will take steps with hands held and we are looking at gait trainers.

Emma does not have much interest in feeding herself. When handed a spoon with food on it she will put it in her mouth and then throw down the spoon. She will not attempt to pick the spoon back up nor will she attempt to pick up food from the tray. She will, however, take small pieces of food that are handed to her and put them in her mouth. Emma is able to chew small soft pieces of food, but has a tendency to pocket food behind her front bottom teeth. Emma does enjoy flavorful food and especially likes guacamole, Thai noodles, and banana pudding.

Communication skills are another area of concern. Since Emma had her tracheotomy removed in March we do get to hear her laugh and cry. Unfortunately she does not yet make any consonant sounds and is generally quite. Emma does recognize and use a few signs. She also uses a Tech/Talk Augmentative Communication Device (http://www.turningpointtechnology.com/Communication/AM/TechTalk.htm) and makes choices from 4 different pictures.

Emma is in her second year at Governor Morehead School?s Preschool program where she spends 4 mornings a week. She started at one morning last year and increased to 3 mornings over the school year. Her preschool teacher is working hard to integrate all areas of development into Emma?s preschool program. Emma has been receiving physical therapy since 4 months of age, occupational therapy since 12 months of age and speech therapy since 18 months of age.

Any comments, insights, or suggestions would be appreciated in the big three; walking, communicating and eating. The worsening scoliosis is also a big concern. Any thoughts on scoliosis management would be greatly appreciated.

Response by Darlene Sekerak, PhD, TelAbility Team Physical Theapist:
Emma sounds like a delightful child who presents us with many interesting challenges. It's hard to get a complete picture of a child in such a short description. I?m sure that her teachers and therapists have attempted many creative approaches to encourage her development. That being said, I'm happy to add a few comments that might apply to any child with some of the characteristic you describe. These suggestions may or may not be appropriate in this case.

1) I often worry about strengthening and endurance in young children with disabilities. Typically they do not have the same level of activity as their peers. Activity is really important for overall health as well as development. Sometimes we get too focused on facilitating the next developmental step and don?t encourage enough movement in general.

2) It is important to consider what excites a child. Does he/she respond to music? What kinds? What makes a child want to ?dance?? Is a child prone to imitation ? maybe of another child or an older child? A child with low tone, especially, may need a bit more stimulation for movement.

3) Scoliosis is always a concern but is not usually ameliorated by exercise alone. However, exercise targeted at improving respiratory function is important with or without a body jacket or orthotic.

4)A thorough assessment of sensory processing and integration can be very helpful in trying to understand and help a child in the areas of feeding, fine motor activities, and movement planning.

5) Family members are also important to consider. Family members (siblings and grandparents, included) have great insights.

6) The coordination of activities at home and at school can be helpful if possible. Sometimes its not possible, and sometimes the child benefits from different expectations in different situations.

Thanks for starting the discussion. What do others have to add to these comments?





 
 
 
     
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