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A patient with translocation Down Syndrome was seen for physical therapy treatment for ten sessions from 03/21/2014 - 05/23/2014 in an outpatient clinic under the supervision of a licensed physical therapist. The patient was evaluated at the initial encounter with Gross Motor Function Measure-88, Peabody Developmental Motor Scales II, Pediatric Evaluation of Disability Inventory, Functional Mobility Scale and 10 meter walk test and a plan of care was established. Main goals for the patient were independent ambulation and improvement in gross motor skills. Main interventions used were intensive, task-specific training and home exercise program. The patient achieved the following goals: improvements in gross motor function and improvements in functional ambulation. The patient was discharged to home with parents as primary caregivers.
A pediatric patient with Down Syndrome was seen for outpatient physical therapy treatment provided by a student for ten sessions from February to June 2014 at a university setting under the supervision of a licensed physical therapist. The patient was evaluated at the initial encounter with Peabody Developmental Motor Scale-2 and Gross Motor Function Measurement-88 and a plan of care was established. Main goals for the patient were to improve developmental motor functions through increasing functional strength, gait endurance and speed, improving balance, and independent ambulation of stairs. Main interventions used were task-specific, family-centered, and high-intensity approaches. The patient achieved the following goals of increased functional strength, gait endurance and speed, improved balance, and independent ambulation of stairs. The patient was discharged home to prior living arrangement with mother as primary caregiver.
Now completely updated with the latest information on both adult and pediatric patients, this comprehensive book provides a link between the pathophysiology of neurologic deficits and possible rehabilitation interventions for improving movement outcomes. It introduces the structure and function of the nervous system and describes normal motor development, motor control and motor learning, pathophysiology of the nervous system and common treatment techniques used in physical therapy practice. This edition also features updated terminology from the APTA's Guide to Physical Therapist Practice, as well as new chapters on proprioceptive neuromuscular facilitation (PNF) and other neurological conditions seen in the adult. Helpful learning aids and abundant illustrations highlight key concepts and help readers quickly master the material. Helpful learning aids - such as objectives, tables, illustrated intervention boxes, and review questions - reinforce important facts and concepts. Review questions at the end of each chapter allow readers to test their understanding of the material. 700 illustrations clearly depict procedures discussed in the text and clarify descriptions of anatomy, physiology, evaluation, pathology, and treatment. Background information is provided for interventions that can be used in the rehabilitation of adults and children, promoting a complete understanding of techniques. Careful documentation uses current outcomes-based research. Case histories include subjective and objective observation, assessment, planning, and critical decision-making components. Current language of the APTA's Guide to Physical Therapist Practice, 2nd Edition is used throughout, aligning all information with best practices put forth by the APTA. A new chapter on proprioceptive neuromuscular facilitation (PNF) describes how these techniques can be used to improve performance of functional tasks by increasing strength, flexibility, and range of motion.
MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Ce document propose un éventail des différentes recherches et découvertes touchant le syndrome de Down, tout particulièrement dans les domaines de la biologie médicale et des sciiences du comportement, En plus de l'historique de ce syndrome, l'étiologie, l'épidémiologie, de la cytogénétique (reproduction cellulaire) et différents aspects bio-médicaux de ce syndrome, il est également abordé le counseling aux parents, l'intervention précoce, le développement cognitif de la personne ainsi que son avenir et son autonomie.
Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Covers the most frequently asked and tested points on the pediatric board exam. Each chapter offers a quick review of specific diseases and conditions clinicians need to know during the patient encounter. Easy-to-use and comprehensive, clinicians will find this guide to be the ideal final resource needed before taking the pediatric board exam.
Even the closest brothers and sisters don't always get along or understand each other. Add a disability like Down syndrome to the mix, and that sibling relationship gets even more complicated, especially for teenagers. Fasten Your Seatbelt is the first book written exclusively for teens with a brother or sister with Down syndrome. In an easy-to-read, question & answer format, it tackles a broad range of their most common issues and concerns. Nearly 100 questions--all posed by teen siblings--are grouped into the following categories: Facts and stats about Down syndrome How people with Down syndrome learn Handling parent and family conflicts Dealing with your sibling's frustrating behaviors Managing uncomfortable situations Sorting out your feelings Becoming an advocate What the future holds for you and your sibling Finding local and national resources Thoughtful, knowledgeable answers are provided by Brian Skotko, the brother of a young woman with Down syndrome, and Sue Levine, a social worker focused on sibling issues for the past 30 years. Fasten Your Seatbelt gives teens the green light to explore their own feelings and questions about their sibling with Down syndrome and how their relationship may change in the future. Wondering whats on their minds? Here are a few sample questions from the book: Why does my brother always have temper tantrums? How can one extra chromosome make someone so different? Can my sister with Down syndrome marry someday? Will my brother be able to live on his own as an adult?