Detailed Project Presentation / Summary Description of Project: Smith – Magenis syndrome Smith – Magenis syndrome (SMS) is a genetic disorder, mostly associated with a deletion of portions of chromosome 17, specifically the loss of one gene: RAI1. This condition affects 1 in 25,000 individuals worldwide (Genetic Home Reference, 2017). Smith -Magenis syndrome is a multisystem condition presenting challenges with behavior, sleep disturbances, intellectual disabilities, organ defects, musculoskeletal and sensory problems. The purpose of addressing this topic obeys to the referral of two children with SMS to our practice along with our staff limited knowledge regarding the condition itself and strategies and interventions to provide for those …show more content…
The first one is for our therapy and education personnel to increase their knowledge of Smith -Magenis syndrome based on evidence - based practices to optimize the potential of these two toddler girls by using a power point presentation. Progress toward this goal will be measured by a short test followed the PPT. Participants will have access to the PPT (and the completed report) after the test for future reference. For additional goal tracking, electronic chart revisions will be conducted three and six -weeks post presentation, assessing the application of the Guide to Physical Therapist Practice 3.0 (2014) in regards to Tests and Measures and Interventions categories with the children with SMS. The second goal will target our education staff and the parents/caregivers with children with Smith - Magenis syndrome, providing them with activities’ guidelines for school, home, and community application. Such information will be provided on a rack card for easy portability. Tracking of this goal will be addressed by having a live discussion with the rack card recipients. A feedback form will be submitted to all the participants for the rating of the rack card content and its …show more content…
Imaging testing is also of great value when performing re-assessments of SMS based on new manifestations as the children grow (i.e. onset of scoliosis, lordosis, poor feet alignment), as discussed by Elsea and Girirajan (2008). The Pharmacology components, many times involuntarily overlooked by clinicians, take serious importance in patients with SMS due to the complex nature of the client. Understanding past and current medications and their implications toward our interventions is critical when providing services. That includes, but it is not limited to side effects, contraindications, drug peak time, and adverse
The professional text that someone in my field would use is the ASQ-3. The ASQ-3 Ages & Stages Questionnaires is designed to screen children’s developmental performance that must be completed by the parents. It is a series of 21 questions with questions ranging in the areas from communication, gross motor, fine motor, problem solving, and personal-social skills specifically for 36 month to 38 month old toddlers. For the communication section, an example of a question asks is “When you ask your child to point to her ears, feet, hair, eyes, and nose, does she correctly point to at least seven body parts?”. In the gross motor section, a question ask “Does your child jump with both feet leaving the floor at the same time?”. A fine motor question that was asked was, “When drawing, does your child hold a pencil between her thumb and fingers like an adult does?”. The parent filling the questionnaire would bubble either yes, sometimes or not yet. There are 6 questions in each are
After reading Kim’s case study I noted that at 17 months she was referred to an early intervention program called 619. Kim was diagnosed with cerebral palsy and seizures; she also suffers with toilet learning. However, according to Kim pediatrician, she no longer suffers from seizures, but can use improvement with gross motor and language. Kim’s mother Mrs. Doe feels early intervention has assisted Kim in becoming more independent, although she still struggles with balance, mobility, and undressing. To better assist Kim with her development I came up with four assistive
The Developmental frame of reference will be used because it assesses developmental milestones. It has been noted that R's developmental age is 8-10 months even though she is 18 months old . The developmental frame of reference is based on the theory of human development in and across all skill areas mainly physical, cognitive, psychological, emotional and psychosocial. Cognitive: Identifies the client’s cognitive level and how to approach intervention. Biomechanical: Loss of Strength and ROM and Tone
Pain assessment is critical for pediatric patients not only in order to select a proper approach to treating pain but also to prevent further complication that might develop. With age appropriate
The human genome is a remarkable system composed of over 3 billion DNA base pairs that encode for the characteristics that makes people distinctly human and unique themselves. Without the genome’s nearly flawless ability to self-replicate the human species would cease to exist. As incredible as this replication methodology is, it is not without its faults. Genetic mutations, though rare and typically harmless, can strike at any time and in various ways. Still, when they do cause harm the effects can be profound and impossible to ignore. Hutchinson-Gilford Progeria Syndrome (HGPS) is an instance where the mutation of just one nucleotide has devastating results. The Mayo Clinic defines progeria as a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. This study defines the disease of progeria by outlining symptoms and identifying causes that lead to its diagnosis. In addition, treatment methods and extensive research that give those affected by the disease hope for a brighter future are highlighted.
In order to develop an OT profile for Brianne, the OT would want to collect information regarding her age, gender, and reason for referral (O’Brien & Hussey, 2012). For Brianne, this means that she is 10 months old, a female, and she was referred because she is unable to play like her peers along with have difficulties moving her right arm and leg. Additional information such as her diagnosis and medical history, including the date of onset, prior living situation, and level of functioning would also need to be gathered (O’Brien & Hussey, 2012). Moreover, using an OT chart and evaluation form, the OT would gather additional background information such as Brianne’s functioning in ADL’s or IDL’s (O’Brien & Hussey, 2012). Information regarding
A copy of the Ages & Stages is given to the parent with their child’s result ASQ. If there is an area or areas that need to be strengthened, we created an Individual Learning Plan to help the child reach his potential. When a weakness is observed in an area, we work with the child on those specific goals. We will observe and document the child’s progress. Parents are asked to provide a 1” binder and clear sheet protectors in order to build a portfolio of the child’s progressive work and parents are welcome to review their child’s portfolio at any time. Usually, when the children are fourteen months, they are sent to the next classroom. If they are not ready in some area or areas, there might be some delays in advancing them to the next classroom. In the meantime, we work with the child to overcome the weakness is having. We work with the child in each age intervals by reinforcing an activity related to the weakness he is having in a particular area of development that will put him/her where he/she supposed to be for his/her
Best of child development: Physical milestones. (2003). Scholastic Parent & Child, 10(6), Retrieved February 19, 2014 from http://search.proquest.com/health/textgraphic/210652910/TextPlusGraphics/107581FDBF8A42F6PQ/1/2?accountid=35796
Scoliosis is a progressive disease. In its early stages a mild rotation and rib deformity is detected. As it progresses more vertebrae rotate, causing the ribs to crowd together on one side of the chest and to spread apart on the opposite side. The disease is usually first identified in persons 10 to 17 years old. Most cases occur in girls and become apparent during the rapid growth phase of puberty. Conditions also include shoulder unleveling, waistline discrepancies, acute headaches, shortness of breath, rib hump, chronic fatigue, and mood swings.
Girls with this syndrome may have many middle ear infections during childhood; if not treated, these chronic infections could cause hearing loss. Up to the age of about 2 years, growth in height is approximately normal, but then it lags behind that of other girls. Greatly reduced growth in height of a female child should lead to a chromosome test if no diagnosis has already been made. Early diagnosis is very importance in order to be able to give enough correct information to the parents, and gradually to the child herself, so that she has the best possibilities for development. Early diagnosis is also important in case surgical treatment of the congenital heart defect (seen in about 20 per cent of cases) is indicated.
Lerner, J W., Lowenthal, B, & Egan, R W. (2003). Preschool children with special needs (2nd ed.). Boston, MA: Allyn and Bacon Publishing.
If the spine is normal then the issue is part of the child growing or a different issue that is causing enough pain to warent a trip to the doctors. If the angle is off however then it will be diagnosed as Scoliosis, Lordosis or Kyphosis respectively.
Moving forward I want to continue connecting the pieces of my patients’ care and health history. I plan on accomplishing this by continuing analyzing the lab values, medications, and physiology of the diagnosis to establish diagnosis and interventions specific to my patients and finding the connections between the
The characteristics that most occupational therapist needs to work on with children on in early intervention and preschool settings are very different depending on the child’s disability. Some of the main aspects occupational therapists try to help young children with are motor control, sensory modulation, adaptive coping, sensorimotor development, social-environment development, and daily living skills. The child’s disability and what the child is have troubles with in education and everyday life determines what the occupational therapist needs to work with the child o...