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Edwards syndrome

Trisomy 18 or Edwards Syndrome (named after John H. Edwards) is a genetic disorder. It is the second most common trisomy after Down's Syndrome. It is caused by the presence of three - instead of two - chromosomes 18 in a fetus or baby's cells. more...

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The additional chromosome usually occurs before conception, when egg and sperm cells are made. A healthy egg or sperm cell contains 23 individual chromosomes - one to contribute to each of the 23 pairs of chromosomes needed to form a normal cell with 46 chromosomes. Numerical errors arise at either of the two meiotic divisions and cause the failure of segregation of a chromosome into the daughter cells (non-disjunction). This results in an extra chromosome making the haploid number 24 rather than 23. Fertilization of these eggs or sperm that contain an extra chromosome results in trisomy, or three copies of a chromosome rather than two. It is this extra genetic information that causes all the abnormalities characteristic of individuals with Edwards Syndrome. As each and every cell in their body contains extra information, the ability to grow and develop appropriately is delayed or impaired. This results in characteristic physical abnormalities such as low birth weight; a small, abnormally shaped head; small jaw; small mouth; low-set ears; and clenched fists with overlapping fingers. Babies with Edwards syndrome also have heart defects, and other organ malformations such that most systems of the body are affected.

Edwards Syndrome also results in significant developmental delays. For this reason a full-term Edwards syndrome baby may well exhibit the breathing and feeding difficulties of a premature baby. Given the assistance offered to premature babies, some of these infants are able to overcome these initial difficulties, but eventually succumb.

The survival rate for Edwards Syndrome is very low. About half die in utero. Of liveborn infants, only 50% live to 2 months, and only 5 - 10% will survive their first year of life. Major causes of death include apnea and heart abnormalities. It is impossible to predict the exact prognosis of an Edwards Syndrome child during pregnancy or the neonatal period. As major medical interventions are routinely withheld from these children, it is also difficult to determine what the survival rate or prognosis would be for the condition if they were treated with the same aggressiveness as their genetically normal peers. They are typically severely to profoundly developmentally delayed.

The rate of occurrence for Edwards Syndrome is ~ 1:3000 conceptions and 1:6000 livebirths, as 50% of those diagnosed prenatally with the condition will not survive the prenatal period. Although there is an increased risk of conceiving a child with Edwards Syndrome as a woman's age increases, women in their 20's and 30's still conceive Edwards Syndrome babies.

A small percentage of cases occur when only some of the body's cells have an extra copy of chromosome 18, resulting in a mixed population of cells with a differing number of chromosomes. Such cases are sometimes called mosaic Edwards syndrome. Very rarely, a piece of chromosome 18 becomes attached to another chromosome (translocated) before or after conception. Affected people have two copies of chromosome 18, plus extra material from chromosome 18 attached to another chromosome. With a translocation, the person has a partial trisomy for chromosome 18 and the abnormalities are often less than for the typical Edwards syndrome.

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Hypermobility Syndrome: Recognition and Management for Physiotherapists
From Physical Therapy, 6/1/04 by Schenk, Ronald

Hypermobility Syndrome: Recognition and Management for Physiotherapists Keer R, Grahame R, eds. Philadelphia, PA 19106, Butterworth-Heinemann Inc, 2003, paperback, 187 pp, illus, ISBN: 0-7506-5390-6, $47.95.

Classification of musculoskeletal disorders has received particular attention in physical therapist practice and research. The target audience for this book includes physical therapists who examine and manage patients with musculoskeletal disorders. This text describes joint hypermobility as a ligamentous laxity that may be inherited or acquired. The hypermobility classification is outlined in detail as are its clinical features and incidence and the prognosis for patients with the condition.

The text comprises 11 chapters, written by several authors. The first 3 chapters were written by Rodney Grahame. Chapter 1 describes the recognition of hypermobility. In this chapter, the 9-point Heighten hypermobility score is introduced as a means of determining the presence of the condition. Although this scale and variations of the measure are referenced by several of the contributing authors, the reliability and validity of these measurements are not mentioned in the text. This chapter also distinguishes joint hypermobility syndrome (JHS) from joint hypermobility by the presence of symptoms that are brought on by sustained movements and postures. The clinical features of JHS help to further describe the condition. The discussions of the physiological and psychological abnormalities that accompany JHS help to explain why so many patients report symptoms related to organs that are seemingly remote from the musculoskeletal system.

The second chapter identifies JHS as one of the heritable disorders of connective tissue. The similarities of JHS to other disorders of connective tissue are described in terms of classification, clinical features, and genetic bases. Guidelines regarding when the physical therapist should refer the patient for further medical advice also are included in this chapter. Chapter 3 describes the overall management of hypermobility syndrome and includes recommendations for treating the presenting lesions, managing pain, and self-help.

Chapter 4, "Hypermobility Syndrome in Children," written by Susan Maillard and Kevin Murray, and chapter 5, "Management of the Hypermobile Adolescent," written by Alison Middle-ditch, discuss how hypermobility affects children and adolescents, respectively, as well as how both patient populations may be managed.

Grahame's coeditor, Rosemary Keer, authored the sixth chapter, "Physiotherapy Assessment of the Hypermobile Adult," and cowrote chapter 7, "Management of the Hypermobile Adult," with Anna Edwards-Fowler and Elizabeth Mansi. These chapters provide a detailed description of hypermobility and its anatomical basis and discuss management strategies for treatment of children, adolescents, and adults. Case studies and illustrations of the condition and therapeutic exercises designed for its management are very useful complements to the clearly written text.

The differences among hypermobility, instability, and hypermobility syndrome are a clinical controversy that Keer (in chapter 6) addresses through detailed references, including those of Panjabi. Chapter 7 mentions how instability affects daily activities, a topic that they feel is helpful in differentiating among the disorders. Keer and colleagues recommend controlled stretching for hypermobility provided that the stretching does not increase an already hypermobile range. In general, Keer et al propose that, in order to minimize trauma and symptoms associated with hypermobile joints, these patients should be encouraged to maintain a neutral joint position. This neutral joint position is maintained while sustaining static postures and during the performance of muscle control exercises. Muscle re-education exercises are outlined in detail, and the importance of trunk stability for patients with JHS, particularly for those experiencing back problems, is emphasized. Although Keer and colleagues support these concepts through numerous references, the references do not include randomized controlled trials, which would help provide high-level evidence for the effectiveness of these interventions.

Chapter 8, written by Jane Simmonds, highlights the implications of joint hypermobility on rehabilitation and fitness. A review of the tissue changes associated with immobilization, remobilization, and reconditioning are made with reference to JHS. The reader is provided with applications of exercise principles and integrated rehabilitation and fitness programs for JHS. A discussion of the issues related to sport and performance participation for the person with hypermobility also is included.

Joint hypermobility and work-related musculoskeletal disorders (WRMSD) are addressed in chapter 9. This portion of the text provides background information regarding WRMSD and how hypermobile joints may predispose people to the development of these disorders. The descriptions of ergonomic principles found in this chapter are pertinent for JHS as well as other patient classifications. In chapter 10, Vicki Harding describes joint hypermobility and chronic pain, and proposes a cognitive-behavioral approach for the management of chronic pain. The belief systems held by patients and the medical community, and their impact on management, are outlined. Harding states that, although no firm evidence has yet emerged, a biopsychosocial approach to management may be efficacious.

The patient's perspective on JHS, written by Sarah Gurley-Green, is described in the final chapter. Gurley-Green maintains that behavior modification may be helpful, but she says that this strategy becomes difficult if the patient does not appreciate what behavior resulted in the injury. Furthermore, she reports that self-management is currently the most effective long-term approach for the treatment of JHD, but the patient's self-concept and how the patient is able to cope with the symptoms become complicating factors in determining its success. According to Gurley-Green, patient empowerment (ie, to cope with the condition), communication, and effective physical therapy for acute episodes may be the best means of managing the condition.

Hypermobility Syndrome is a fine reference for physical therapists and other health care professionals who treat musculoskeletal or neuromusculoskeletal disorders. The book is consistent with other approaches that encourage patients to become responsible for their physical health. Patient empowerment is made possible through the guidance of clinicians who thoroughly understand the nature of the condition and its implications on the general well-being of patients. Although the text clearly describes hypermobility, its signs, symptoms, and management, the approaches that are outlined are not well supported by the peer-reviewed literature.

Ronald Schenk, PT, PhD, OCS

Elon University

Elon, NC

Dr Schenk is Associate Professor in the Doctor of Physical Therapy Program where he teaches courses on biomechanics and musculoskeletal dysfunction.

Copyright American Physical Therapy Association Jun 2004
Provided by ProQuest Information and Learning Company. All rights Reserved

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