Case History Report Form
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- Margery Greer
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1 Child details ( * required) Name (first name only) or *Code John *Chronological age (CA) Actual age since birth *Diagnosis and/or presenting problems mos Joubert Syndrome - a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination. The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), jerky eye movements, mental retardation, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes, cleft lip or palate, and tongue abnormalities. Seizures may also occur. Most cases of Joubert syndrome are sporadic (in other words, no other family member has the disorder), but in some families, Joubert syndrome appears to be inherited via a recessive gene. John has severe motor disability and moderate mental retardation. *Other products used List other products used by the child as part of their 24-hour postural management programme. State where and how the products are used. Therapist details ( * required) Name or * Code Ginny Paleg Address USA Contact number *Profession / qualification ginny@paleg.com PT *Number of years qualified 20 *Number of years experience with children 20 Product details ( * required) *Product name Squiggles Saddle Seat *Components or accessories used All 1/3
2 Assessment details complete before using the product Date / /20 Child s weight Height / length in supine Delete as appropriate 24 lbs 30 inches Developmental assessment, clinical observations, functional abilities Include a description of the problem/need/weakness the child has. Append copies of assessment report / outcome sheets where appropriate. John at 24 months was functioning at the 7 month level (according to the Mullen). He could get into sitting, but not out and could maintain sitting for long periods of time. He could not belly crawl or scoot and only rarely rolled. His head control was poor and he maintained his head in a forward head posture with cervical and thoracic kyphosis. Low tone weak trunk with dystonic movements. Frequent temper tantrums where he threw his head and body backwards and had the potential to injure himself and others. He batted at toys, but did not engage in bilateral midline play. He was beginning to feed himself with hand over hand (and hand under hand) assistance. Treatment strategy/goals for child These should be very specific and measurable Strengthen trunkal musculature Stabilize pelvis and lower abdomen initially and encourage John to reach and hold his upper trunk upright to allow lumbar lordodic curve to form while thoracic and cervical curves are reduced. Lower trunkal supports over time so skills can be transferred to a regular classroom chair and the floor. Our 12 month goal (achieved in 11 months) was independent floor sitting with unilateral upper extremity support (one hand could be stabilizing on the floor) 2/3
3 Description of your planned intervention At 18 months of age, John was unable to sit independently. We began by using massage and manual therapy to gain mobility through the spine. We added a compression garment (Benik) to give John the feeling of sitting more upright. We had located a resource that indicated that only 50% of children with Joubert s Syndrome ever achieved independent ambulation. While validity of the GMFMCS has not been established in children with Joubert s syndrome, we extrapolated (using the GMFM) that Johns current level was IV and that he had a large chance of never reaching the developmental milestone of walking. While we applied best practices (body weight support treadmill training) to achieve walking, we also wanted to address sitting. Our goal was to achieve this critical skill as close to 24 months as possible as it has been established in the literature that children that do not sit independently by age 2, are most likely never to attain independent walking. We used a compression garment to offer a degree of postural stability. John was able to sit in a fully supportive therapy chair, but it was felt that this offered him too much support. John relied on this support and did not actively participate in sitting. When placed in a typical baby seated support (Bumbo), John assumed an abnormal sitting posture of increased kyphosis, cervical flexion, forward head and open mouth with jaw thrust. would offer additional support. The team (teacher, OT, PT, parent, nurse and aide) believed the best approach would be to locate and use a seating system that stabilized John s pelvis and lower spine, but required him to actively extend his trunk/spine to achieve and maintain upright posture against gravity while engaging in midline play with a toy or book. We did not want a tray which Because John was unable to attain quadruped and crawl and did not appear to be activating gluteus medius (bilaterally), we believed he was at risk for hip subluxation. We sought a seating system that would allow us to widely abduct his hips to get a close approximation of the femoral head and acetabulum in an attempt to influence the development of this joint. We were hoping to stimulate the bone to grow in such a manner that the acetabulum would gain sufficient depth and the femoral head would rotate and angle in an as near normal configuration as possible to afford hip stability. The ideal seating system would allow us to begin by offering high trunk support (upper thoracic spine) and the ability to lower these supports until only his pelvis was supported (at the ASIS). We also desired the possibility of anterior tilt so that we could use gravity as a motivation to get John to actively extend and align his spine and possibly influence the development of a near normal lumbar curve. All these desired parameters were met with the Leckey Squiggles Saddle Seat. We used the Mobility Opportunities via Education (MOVE) Top Down Motor Milestone Assessment Prompt Reduction Plan for Sitting to determine when our small increment objectives had been met and we could lower/lessen the support offered by the equipment. John was also assessed using the Mullen every 6 months in accordance with the schedule established by his early intervention program. Objectives for the 9 months it took to achieve our goal for John of independent sitting with unilateral hand support on the stable surface (floor) for 30 minutes (length of circle time). Floor sitting with fading supports was also offered daily during this program as well as other therapeutic interventions from a multi-disciplinary team. 3/3
4 1) John will sit in a seating system with total trunk and head support, tray, leg and foot supports and play in midline with a toy for 30 minutes without crying 3/5 trials (timeline:4 weeks) 2) John will sit in a seating system with high back support, tray, leg and foot supports and play in midline with a toy for 30 minutes without crying 3/5 trials (timeline: 4 weeks) 3) John will sit in a seating system with wide leg abduction and high thoracic trunk, leg and foot supports and 4) John will sit in a seating system with wide leg abduction and mid thoracic trunk, leg and foot supports and 5) John will sit in a seating system with wide leg abduction and low thoracic trunk, leg and foot supports and 6) John will sit in a seating system with wide leg abduction and high lumbar trunk, leg and foot supports and 7) John will sit in a seating system with wide leg abduction and mid lumbar trunk, leg and foot supports and 8) John will sit in a seating system with wide leg abduction and low lumbar trunk, leg and foot supports and 9) John will sit in a seating system with wide leg abduction and pelvic support (only), leg and foot supports and 4/3
5 5/3
6 Review Assessment Date / /20 Record review results. Repeat initial assessment stages as appropriate, noting any improvements / deteriorations / new problems encountered / solutions. Note any changes to the configuration of the Leckey product, i.e. components added / removed. If possible, re-photograph your child. Return to Clare Wright (Clinical Research Manager) at clare@leckey.com or by post after each review. The next 6 month goal for John would be independent hands free floor sitting while engaging in midline play with a toy or book for 30 minutes. Our next 12 month goal would be for John to transition in and out of floor sitting independently 3/5 trials during a 30 minute period. 6/3
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