The Effects of Physical Therapy Intervention on a 7 Month Old Child Diagnosed with Gillespie s Syndrome A Capstone Project for PTY 768 Presented to the Faculty of the Department of Physical Therapy Sage Graduate School In Partial Fulfillment of the Requirements for the Degree of Doctor of Physical Therapy Kristina M. Smeragulio, SPT May, 2010 Approved: James R. Brennan, PT, PhD Research Advisor Marjane Selleck, PT, DPT, MS, PCS Program Director, Doctor of Physical Therapy Program
SAGE GRADUATE SCHOOL I hereby give permission to Sage Graduate School to use my work, The Effects of Physical Therapy Intervention on a 7 Month Old Child Diagnosed with Gillespie s Syndrome For the following purposes: - Place in the Sage Colleges Library collection and reproduce for Interlibrary Loan. - Keep in the Program office or library for use by students, faculty, or staff. - Reproduce for distribution to other students, faculty, or staff. - Show to other students, faculty or outside individuals, such as accreditors or licensing agencies, as an example of student work. - Use as a resource for professional or academic work by faculty or staff. Kristina Smeragulio 4/18/10 Name Date
I represent to The Sage Colleges that this project and abstract are the original work of the author, and do not infringe on the copyright or other rights of others. The Effects of Physical Therapy Intervention on a 7 Month Old Child Diagnosed with Gillespie s Syndrome Kristina Smeragulio 4/18/10 Name Date
The Effects of Physical Therapy Intervention on a 7 Month Old Child Diagnosed with Gillespie s Syndrome Kristina M. Smeragulio, SPT, James R. Brennan, PT, PhD
Abstract Background and Purpose: Gillespie s Syndrome also known as Aniridia Cerebellar Ataxia Mental Deficiency is an extremely rare genetic disorder with an incidence of 1 in 64,000 to 1 in 96,000. Since its discovery in 1965 there have been 21 reported cases. This disorder is characterized by the absence of the entire or part of the iris in both eyes (aniridia) and an underdeveloped cerebellum. Those with Gillespie s Syndrome usually experience very low vision and awkward ataxic like movements. This case report investigates the effects of physical therapy intervention on a 7 month old child diagnosed with Gillespie s Syndrome. Case Description: The patient was a male, Caucasian child born at full-term after undergoing an unremarkable pregnancy. At 6 months old the child exhibited delayed motor skills and was referred to Early Intervention. Based on the University of Michigan Early Intervention Developmental Profile, the child scored developmentally within his age range in cognition, social/emotional, gross motor and self care feeding skills. He demonstrated a 25% developmental delay (2+ months) in receptive language, expressive language and perceptual/fine motor skills. Immediately the child began physical therapy as well as other therapeutic interventions including occupational therapy and hippotherapy, each therapy one time per week. Outcomes: The child was re-evaluated every 6 months and showed improvement. With combined efforts of the Early Intervention team, developmental milestones such as sitting unsupported, crawling, and walking were slowly reached. Discussion: This case report s findings demonstrate the benefits across all areas of development of a comprehensive rehabilitation program for a child with Gillespie s Syndrome. While it cannot be said these results are solely due to physical therapy intervention, it is believed to be due to the multi-disciplinary team efforts and therapies the child participated in as a whole as well as carryover by the family in the home. There is very little research on Gillespie s Syndrome concerning physical therapy and other supportive therapies. Most publications only discuss the characteristics of the syndrome and further continued research is needed to determine the effectiveness of solely physical therapy on a child s motor skills. Key Words: Gillespie s Syndrome, pediatric cerebellar ataxia, physical therapy, Early Intervention
3 Gillespie s Syndrome also known as Aniridia Cerebellar Ataxia Mental Deficiency is an extremely rare genetic disorder with an incidence of 1 in 64,000 to 1 in 96,000. 1-3 Another resource reports an incidence of 1 in 50,000 to 1 in 100,000. 4 Gillespie s Syndrome affects the eyes and brain, more specifically the iris and the cerebellum. This disorder is characterized by the absence of the entire or part of the iris in both eyes (aniridia) and an underdeveloped cerebellum. Mental retardation is another common feature of Gillespie s Syndrome. 1 Aniridia is caused by a mutation of the PAX6 gene. 4 Normally the PAX6 gene provides protein for development of the eyes, the central nervous system which includes the brain and spinal cord, and the pancreas during the early stages of development and continues to assist in the maintenance of the eye once a child is born. 4 Most people s vision with Gillespie s Syndrome is 20/60 which although very low is still functional. 1 The cerebellum controls balance, movement and coordination. 1 Gillespie s Syndrome prevents the cerebellum from developing properly, resulting in a lack of coordination with voluntary movements, also known as ataxia. 1 Those with Gillespie s Syndrome are slow to meet their physical milestones. 1,5 They usually appear awkward in their movements and may have problems with speaking clearly. 1 Gillespie s Syndrome was first identified in 1965. Since its discovery there have been 21 reported cases of Gillespie s Syndrome. 1 Due to its low incidence, there is little opportunity for publishing research that examines the effects of physical therapy interventions in children with Gillespie s Syndrome. Most publications that are available only discuss how individual cases are characterized and the medical analysis of Gillespie s Syndrome. Studies such as Nevin, 1990, Nelson, 1997, Luquetti, 2007, and Eden, 2008, only discuss the presentation of Gillespie s Syndrome with no suggestions of actual treatment.
4 Therefore to date; there is no evidence of physical therapy interventions being used to improve balance and voluntary movements in those with Gillespie s Syndrome. 2,3,6,7 The patient for this case report was a male, Caucasian child. The pregnancy was unremarkable. The child was born at 40 weeks gestation at 7 pounds 2 ounces and 20 ¾ inches and was delivered by a cesarean section. He was a first born child to 2 loving parents, both who work full-time. The child is friendly and interactive with others. At about 6 months old, he exhibited poor head control and delayed motor skills. His pediatrician also noted an iris abnormality. Upon evaluation, he was referred to an Early Intervention program by his pediatrician for motor and visual concerns. After a neurological consultation, the child was diagnosed with Gillespie s Syndrome. This syndrome is rare and under researched and more research is needed not only to further understand this syndrome, but to determine its proper interventions. At 7 months old the child was evaluated by 2 Early Intervention therapists. The evaluation tool used was the University of Michigan Early Intervention Developmental Profile, more easily referred to as the Michigan. The Michigan evaluates the developmental skills across 6 categories: cognition, social/emotional, perceptual/fine motor, gross motor, self-care (feeding/hygiene/toileting), and language (receptive & expressive). The therapists used play activities to allow the child to demonstrate his skills. The child scored developmentally within his age range in cognition (6 months), social/emotional (6 months), gross motor (6 months) and self care feeding skills (7 months). However he demonstrated a 25% developmental delay (2+ months) in the following areas: receptive language (3 months), expressive language (4 months) and perceptual/fine motor skills (5 months).
5 In regards to the child s motor skills, at 7 months old he was able to raise his head and chest using forearm support. While in prone (on stomach), he was able to reach for objects. When held with his feet on the ground he would bear the majority of his body s weight through his feet. He aligned his head with his trunk when he was pulled from supine (on back) to sitting and his primitive reflexes had integrated well. As previously stated, Gillespie s Syndrome is a rare disorder. It affects one s vision and motor skills, leaving the child with low functioning vision and uncoordinated movements. Mental retardation is also usually seen with this population; however this child s cognition appeared to be age appropriate when he was evaluated at 7 months old. With the nature of Gillespie s Syndrome, motor skill development is more delayed than typical child development. The child qualified for Early Intervention for 6 months, and at about each 6 months thereafter the child was reassessed, until he aged out of the program at 36 months old. The overall goal of the Early Intervention treatment was to support the child s development to meet all gross motor milestones (i.e rolling, sitting, standing, etc.). It was expected that the child would meet milestones at least 2-3 months later than average children. The parents and Early Intervention physical therapist created goals and designed strategies to support the child s development in regards to motor skills. The general and long term goal included progressive improvement in motor skills. More short term goals in developmental order included: rolling, sitting, crawling, pulling to stand, standing, cruising, and walking. Strengthening (head/neck, trunk, and extremities) and motor planning techniques were used to help develop the child s motor skills. Once the child achieved
6 sitting, the therapist initiated balance exercises to ensure righting and equilibrium reactions were intact and strong. For a child to be discharged from early intervention services are he or she must meet at least one of the following criteria: a) less than a 25% developmental delay on a 6 month assessment, b) the child reached 3 years old and aged out of the Early Intervention program or c) the parents decided to cease therapy. Before the child s 3 rd birthday, the Early Intervention team and the parents discuss the options for their child transitioning into their school district s intervention program. Once the child is 3 years old the child is eligible to receive e services from the school district and their multi-disciplinary team of therapists becomes the healthcare providers. The purpose of Early Intervention is to help the family support their child with strategies and techniques given by each therapist that the child is seen by. Parental carry-over of the strategies determined for the child is vital to the child s progress. In terms of physical therapy, this child received a home visit 1 time per week by a physical therapist. The visits were scheduled per the family s availability, but every effort was made to keep the visits a week apart and as consistent as possible. If the child or therapist was ill, the visit was canceled and rescheduled for a later date. During each visit the therapist worked on gross motor skills. The therapist used toys and the mother or father to motivate the child s movement. The therapist did not force the child to do activities he did not want to do, and would switch if he fussed too much. After each session a note was written summarizing the activities done, how the therapist felt the session went, and suggestions for activities for the parents and child to work on for the coming week. A copy of the note was left with the parent present.
7 The child also received separate occupational therapy sessions one and a half hours each week. As the child aged and speech became a concern he then received speech therapy and an educator each once a week for one hour. The child participated in the Early Intervention weekly play group, where he received a 1:1 aide. In addition he received a monthly consult from a vision specialist. He also received a private hippotherapy session weekly. Hippotherapy is a therapeutic horseback riding program in which the movement of a horse is used as a tool to integrate motor tasks such as postural control and balance as well as tasks associated with occupational and speech therapy. 8 Hippotherapy has also been proven to facilitate muscle tone, coordination, and functional ability of children with developmental delay. 8,9 Due to the child s light sensitivity the child wore sunglasses on a daily basis, and was surrounded by shade to assist his eyesight. The child used a pair of ankle foot orthotics (AFO), a swash brace, and a Rifton posterior rolling walking/gait trainer. The exact type of AFO this child used was not specified, however AFOs are used to aid the person s gait pattern during ambulation by eliminating excessive plantar flexion more commonly known as drop foot. 10 Drop foot is a motor deficit secondary to neuromuscular conditions that inhibit the muscles innervated by the common peroneal nerve, usually the anterior tibialis muscle which is responsible for the foot s dorsiflexion. 10 A swash brace is used to optimize sitting and standing posture by improving hip alignment. 11 The Rifton posterior gait trainer is designed to the support an individual on their body where necessary and aide them in walking. 12 Not only is this specific brand of gait trainer portable, it is also adjustable to meet the needs of the child, as the support requirements may change as they progress and grow. 12 The goals of Early Intervention are family oriented. The Early Intervention team focuses on the needs of the child and his parents. They believe treating a child in his most
8 natural environment (his home in this case) will promote a more secure and comfortable setting. The team strives to support the family s needs as it relates to their child s development. Over the course of 29 months the child received several therapies ranging from physical therapy to hippotherapy. Before the child s 3 rd birthday another assessment was performed to determine whether or not the child qualified to receive services through the educational system, as at 3 years of age children age out of the Early Intervention program. Upon transition, the child s final assessment at 33 months, did qualify him for continued services within the school system, however many of his developmental skills did improve. Upon discharge, the child s scores were as follows: perceptual/fine motor-26 months, cognition-30 months, gross motor-9 months, receptive language-31 months, expressive language-20 months, self-care-22 months, and social/emotional-30 months. The child s cognition, receptive language, and social/emotional skills were within age appropriate ranges. Other skills such as the perceptual/fine motor, expressive language, self-care, and gross motor were developmental areas in which the child qualified with a 6+ month delay. The child s continued improvement while in the program allowed him to explore and interact with his environment more freely. Even though the child still depended on his parents for most activities of his daily living, he was able to first crawl independently and then able to walk independently once in the Rifton gait trainer. His parents stayed with him to ensure his safety should there be a mishap, but he was able to initiate the gait trainer himself. He was also able to cruise furniture with supervision. The child also participated more with his peers by smiling and playing. He interacted with the Early Intervention team and parents by answering simple yes or no questions as well as his ability to answer
9 questions when given a choice between two single objects or options by repeating one of the options. The child received services from Early Intervention for a total of 29 months. The child was assessed using the University of Michigan Early Intervention Developmental Profile. Table 1 documents the child s scores in regards to age level across the 6 developmental domains (cognition, social/emotional, perceptual/fine motor, gross motor, self-care (feeding/hygiene/toileting), and language (receptive & expressive) for the initial and final assessment at 7 months and 33 months respectively. Table 1 7 months old 33 months old Cognition 6 months 30 months Social/Emotional 6 months 30 months Perceptual/Fine Motor 5 months* 26 months* Gross Motor 6 months 9 months* Self-Care 7 months 22 months* Language *Indicates qualifying developmental delay Receptive- 3 months* Expressive- 4 months* Receptive- 31 months Expressive- 20 months* The child s developmental delay is secondary to his diagnosis of Gillespie s Syndrome which affects the cerebellum s development, leaving him with ataxic movements. 1 His vision was also affected which is another secondary condition of Gillespie s Syndrome. 1 With therapeutic interventions the child made gains and eventually met developmental milestones such as sitting up, crawling, and walking. The final assessment revealed that the child still qualified for services once he entered the educational setting. The child s family, Early Intervention therapists and his future educational team worked together to create the optimal learning environment for him. The child was assessed in his social (play
10 group) and home environment by his assigned pre-school teacher and the Early Intervention team and Perkin s eye specialist assessed the school environment. With continued support the child should continue to make developmental gains in all areas of development. This case report s findings demonstrate the benefits across all areas of development of a comprehensive rehabilitation program for a child with Gillespie s Syndrome. This is believed to be due to the multi-disciplinary team efforts and therapies the child participated in, as well as the extensive efforts and carry-over done by the parents. Due to the structure of Early Intervention it is difficult to determine which profession of a multi-disciplinary team caused the most improvement in this child s motor development. There is limited research on Gillespie s Syndrome concerning not only physical therapy, but other supportive therapies as well. Most publications only discuss the characteristics of the syndrome and further continued research is needed to determine the effectiveness of solely physical therapy on a child s motor skills.
11 References 1. About Aniridia. Aniridia Network International Website. http://www.aniridia.org/index.html. Accessed October 8, 2009. 2. NC Nevin, JHK Lim. Syndrome of partial aniridia, cerebellar ataxia, and mental retardation-gillespie syndrome. American Journal of Medical Genetics. 1990;35:468-469. 3. DV Luquetti, RP Oliveria-Sobrinho, VL Gil-da-Silva-Lopes. Gillespie syndrome: additional findings and parental consanguinity. Ophthalmic Genetics. 2007;28:89-93. 4. Aniridia. Genetics Home Reference Website. http://ghr.nlm.nih.gov/condition=aniridia; June 2009. Accessed October 8, 2009. 5. Crawfurd MD, Harcourt RB, Shaw PA. Non-progressive cerebellar ataxia, aplasia of papillary zone of iris, and mental subnormality (gillespie s syndrome) affecting 3 members of a non-consanguineous family in 2 generations. J Med Genet. 1979;16(5):373-378. 6. J Nelson, Flaherty M, P Gratten-Smith. Gillespie syndrome: a report of two further cases. American Journal of Medical Genetics. 1997;71:134-138. 7. U Eden, C Beijar, R Riise, K Tornqvist. Aniridia among children and teenagers in Sweden and Norway. Acta Ophthalmol. 2008;86:730-734. 8. Hippotherapy. American Hippotherapy Association Website. http://www.americanhippotherapyassociation.org/aha_about_strategicplan.htm; 2007. Accessed February 18, 2010. 9. Bertoti DB. Effect of therapeutic horseback riding on posture in children with cerebral palsy. Phys Ther. 1988;68(10):1505-1512. 10. Blaya JA, Herr H. Adaptive Control of a Variable-Impedance Ankle-Foot Orthosis to Assist Drop-Foot Gait. IEEE Transactions on Neural Systems and Rehabilitation Engineering. 2004;12(1):24-31. 11. SWASH. Allard USA Website. http://www.allardusa.com/pdf/swashclin.pdf. Accessed December 17, 2009. 12. Rifton Pacer Gait Trainers. Rifton Website. http://www.rifton.com/products/mobility/index.html; 2010. Accessed February 18, 2010.