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The Effects of Physical Therapy Intervention on a 7 Month Old Child Diagnosed with Gillespie‟S Syndrome

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The Effects of Physical Therapy Intervention on a 7 Month Old Child Diagnosed with Gillespie‟S Syndrome 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
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