Angelman Syndrome Case Study

DPT 788: Applied Physical Therapy III (Clinical Supervision Course) *served as course coordinator in 2017 as faculty on sabbatical 4-5 Spring 2015, Spring 2016, Spring 2017 Didactic Courses with Minor Teaching Responsibilities including Guest Lectures DPT 887: Professional Issues IV Responsible for grading learning contract for final clinical 2-3 Summer 2014, Summer 2015, Summer 2016 DPT 654: Theory and Practice IV “Pediatric Equipment for Ambulation” n/a Fall 2014, Fall 2015, Fall 2016 DPT 672: Physical Therapy Management of Complex Conditions I “Cardiopulmonary Conditions in the Neonate” n/a Fall 2014, Fall 2015, Fall 2016 DPT 772: Physical Therapy Management of Complex Conditions III “Musculoskeletal Conditions in Pediatrics” n/a Spring 2014, Spring 2015, Spring 2016, Spring 2017 HSC 512: Evolving Technologies in Health Sciences “Seating and Mobility in Pediatrics” n/a Summer 2014, Summer 2015, Summer 2016 Wendland Teaching Responsibilities as lab instructor or course instructor (one semester only) DPT 758: Theory and Practice V 2 Fall 2013 DPT 778: Physical Therapy Management of Complex Conditions VI 2 Fall 2013 DPT 666: Interactions III 3 Fall

Prader-Willi and Angelman Syndrome are two genetic disorders with vastly differing phenotypes linked by missing genetic imprints on the 15th chromosome’s q arm between regions 11 and 13 . While both orders result in mental deficits, their symptoms are otherwise segregated from the other in their entirety. The differences in the disorders are the result of differing DNA methylation patterns present in maternally and paternally inherited DNA. If the deletion occurs in the mother’s DNA, then Prader-Willi Syndrome appears. When the deletion occurs in the father’s DNA, Angelman Syndrome is the result.

As ethical and moral physical therapists, it is essential to consider all possible sources of the impairment and figure out how to resolve, educate, and prevent future implications for patients. In order to be able to complete such a task, physical therapists must be able to look at functional status through all of its domains, biophysical, psychological, and sociocultural.2,5 In the realm of pediatrics, performing screenings, functional tests, and questionnaires offer a great diagnostic and prognostic data for children. The DDST3 enables a PT to get a sense of a child's cognition, motor functions, and behavior. Identifying possible delays or problems early on is vital in order to ensure proper development, especially since many systems have

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are both congenital neurological disorders that cause physical and mental impairment. There are many ways to get AS and PWS, but genomic imprinting is the most common cause. AS is typically misdiagnosed as Cerebral Palsy or Autism and symptoms for AS and PWS may vary between patients. There is no cure for AS or PWS, but physical and mental therapy can help.

-Sit-to-stand activity: using balance bar and shapes to increase attention span, concentration, and eye-hand coordination.

Two hundred and eighteen million dollars are spent on Autism each year, but for a Syndrome called Angelman Syndrome less than five hundred thousand dollars are spent. Louie is a young thirteen year old male from davidson county, he has Angelman Syndrome, also known as AS, or “Puppet children”. AS is a rare congenital disorder characterized by mental disability and a tendency toward jerky movement, caused by the absence of certain genes that are normally present on the copy of chromosome 15, inherited from the mother. Most kids with Angelman Syndrome don’t sleep well, but Louie sleeps all on his own for a decent amount of time. His parents have to have someone that sleeps at the house so that they can help out with Louie. She watches him twenty hours a week. Even though Louie has this disorder he is still doing many things just like children who don’t have the syndrome, Louie is a great kid!

My Bachelor’s in Exercise Science has equipped knowledge of the human anatomy and physiology, and exercise testing and prescription for people of different ages and health conditions. During my attendance at the University of Texas at Arlington, I joined the Little Mavs Movement Academy directed by Dr. Priscilla Cacola. I volunteered for a year in this program; while in the program I had the opportunity to learn about developmental coordination disorder (DCD) and how it interferes with activities of daily living and learning of

Olama, K.A., & Thabit, N.S. (2010) performed a randomized controlled trial to determine the efficacy of whole body vibration (WBV) and a designed physical therapy program versus suspension therapy and the same designed physical therapy intervention in balance control in children with hemiparetic CP. Criteria for inclusion for the study were children with hemiparesis cerebral palsy from both sexes ages 8 to 10 years old, able to understand commands given to them, able to stand and walk independently with frequent falling, and balance problems ( as confirmed by the Tilt Board Balance Test). The exclusion criteria consisted of presence of any medical condition such as vision and hearing loss, cardiac abnormalities, and musculoskeletal disorders. Children who met the criteria (n=30) were recruited from the outpatient clinic, College of Physical Therapy, Cairo University The randomization was done according to the Gross Motor Function Classification System (GMFCS). Treatment allocations were done by the selection of a closed envelope randomly selected. Parents and children were informed of the treatment allocation after the selection, procedures were explained to both of them and signed assent and consent were obtained.

•Difficulty with physical coordination – dizziness, poor balance, hand‐eye coordination and slow reflexes cause clumsiness and accidents.

--Trampoline jumping and crashing on the pillows 10X10, static wheelbarrow activity, therapeutic sit-down fine motor activities, obstacle course and coordination exercises to increase proprioceptive input, hand-eye coordination, sequencing, work behavior, following directions, body awareness, self-regulation, and cognition in order to prepare for therapeutic activities.

There are three different types of musculoskeletal disorders that effect the spinal column: Lordosis, Kyphosis, and Scoliosis. Scoliosis effects the largest amount of people and also effects the widest range of ages. There are three different types of scoliosis and they are categorized by the age at which the deformity developed. Infantile scoliosis develops from birth to 4 years old, juvenile scoliosis develops from 4 to 9 years old, and adolescent scoliosis develops from 10 to 18 years. Scoliosis is most commonly developed in the adolescent stage, it compromises approximately 80 percent of all scoliosis cases (Baaj, 2017). Any

The use of these monitors to measure the extent of children’s physical development can act as both an evaluating and motivating tool. These and other technological advancement impact positively on physical development if well

Angelman syndrome was first identified by Harry Angelman in 1965. It is a genetic disorder and Angelman noted the disease as a unique 'syndrome' by the presence of "several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter" (Stรถppler 2012: 1). Symptoms usually become notable from ages 6 to 12 months and about 1 in 12,000 to 20,000 people are affected. Although children with Angelman syndrome are prone to epileptic seizures from age two onward, their life expectancy is otherwise normal. Identifiers of Angelman syndrome include cognitive and developmental delays and problems with coordination of speech and movement (Stรถppler 2012:1). Children with Angelman syndrome are also often described as hyperactive. Children appear normal at birth but often begin to have feeding problems and do not meet expected developmental milestones.

Developmental Coordination Disorder (DCD), also referred to as dyspraxia, is a motor disorder. The condition is characterized primarily by “lack of co-ordination/poor co-ordination,” “motor-difficulties/impairment,” “planning difficulties,” and “organizational difficulties” (Kirby, Davies, & Bryant, 2005, p. 124). DSM-IV-TR criteria for Developmental Coordination Disorder includes: (1) “marked impairment in the development of motor coordination,” (2) “significant interfere[nce] with academic achievement or activities of daily living,” and (3) the absence of “a general medication condition” or “Pervasive Developmental Disorder” (Lingam, Hunt, Golding, Jongmans, Emond, 2009, p. e695). Furthermore, in the

Based on the observation of three distinct periods of climax, scoliosis has been sub-divided into three groups; infantile, before the age of 3; juvenile, age 5 to 8; and adolescent, age 10 until the end of