Joint Hypermobility: Normal Variation Or Cause for Concern?

Home , Hip dislocation, Hip dysplasia, Hypermobility (joints), Subluxation

Nonprofit Organization U.S. Postage PAID Twin Cities, MN VOLUME 22, NUMBER 1 2013 200 University Ave. E. Permit No. 5388 St. Paul, MN 55101 651-291-2848 www.gillettechildrens.org CHANGE SERVICE REQUESTED VOLUME 22, NUMBER 1 2013 Deborah Quanbeck, M.D.

Deborah Quanbeck, M.D., is a A Pediatric Perspective focuses on specialized topics in pediatrics, orthopedics, KEY INSIGHTS board-certified pediatric ortho- neurology, neurosurgery and rehabilitation pedic surgeon. She has extensive medicine. Joint Hypermobility: Normal experience in treating children ■ Typically, clinicians discover joint with acute pediatric orthopedic To subscribe or unsubscribe from hypermobility when a child is being A Pediatric Perspective, please send an Variation or Cause for Concern? conditions and a wide variety of email to [email protected]. evaluated for something else, such as musculoskeletal disorders. By Deborah Quanbeck, M.D., Kristine Greer, D.P.T., and Katie Wilkins, D.P.T. joint pain or fatigue, flat feet or bunions, Editor-in-Chief – Steven Koop, M.D. and hip dislocations or subluxations. She received her medical degree Editor – Ellen Shriner Designers – Becky Wright, Kim Goodness ■ from the University of Minnesota Medical School. Following her Photographers – Anna Bittner, The Beighton scale for assessing joint orthopedic surgery residency at the University of Minnesota, Paul DeMarchi Joint hypermobility is a condition in which hypermobility is considered the gold she completed a fellowship in pediatric orthopedic surgery at a person’s joints can be flexed beyond the standard for diagnosis, because it is Gillette Children’s Specialty Healthcare and Shriners Hospitals Copyright 2013. Gillette Children’s Specialty Healthcare. All rights reserved. normal range of motion. It affects approx- quick, it is easy to use, and it has high for Children. She is a member of the Pediatric Orthopaedic imately 10 to 15 percent of children.1 The intra-rater reliability. Society of North America and the American Academy of Ortho- diagnosis often appears straightforward— paedic Surgeons. She has published journal articles and made ■ Nonmusculoskeletal signs and symp- excessive laxity in finger (Fig. 1), elbow, hip numerous professional presentations. toms, such as skin hyperelasticity, and knee joints—and often it is that simple. To make a referral, call 651-325-2200 or excessive bleeding or bruising, 855-325-2200 (toll-free). If there are no other associated symptoms, prominent veins, or heart murmurs, joint hypermobility is usually considered Katie Wilkins, D.P.T Fig. 1 - A classic example of finger joint may point to more serious conditions benign. hypermobility such as Ehlers-Danlos syndrome. Katie Wilkins earned a doctorate NEWS & NOTES ■ Treatment for joint hypermobility in physical therapy from the Although joint hypermobility alone may not be cause for concern, the condition can University of Minnesota. She be accompanied by joint pain and more frequent injuries (e.g., dislocations, sprains). depends on the extent of the condi- Gillette’s Maple Grove Clinic Expands Services tion. Physical therapy may suffice for gained her first year of experience It also can contribute to arthritis. In some cases, the symptoms signal a more serious Our Maple Grove Clinic has expanded our offering of pediatric specialty services. Patients some patients, while others with more in sports medicine and ortho- condition, such as Ehlers-Danlos syndrome. pedics at the Sports Medicine Visit www.gillettechildrens.org/ living in the northwestern metropolitan area now have convenient access to these specialists: involved conditions should be referred MedicalStaffBios to learn more about Orthopedics – Deborah Quanbeck, M.D., Angela Drummond, P.N.P. and Wellness Center in River Gillette’s specialists. to a pediatric orthopedic surgeon or Falls, Wis. She works at Gillette Pediatric rehabilitation medicine – Supreet Deshpande, M.D., Angela Sinner, D.O. When examining a child or adolescent who is unusually flexible or more inclined to pediatric rehabilitation specialist. Children’s Specialty Healthcare’s Clinical Education Plastic surgery – Paul Kim, M.D. have sprains than most children, joint hypermobility may be the cause, and further Minnetonka Clinic. Visit the Resource Center on our website Craniofacial care – Martha McGrory, P.N.P. evaluation is recommended. to find videos and professional present- Neurotrauma care – Leslie Larson, P.N.P., Amanda Seeley, P.N.P. ations. www.gillettechildrens.org Sleep medicine – Laurel Wills, M.D. About Joint Hypermobility Inside Additionally, the Maple Grove Clinic provides comprehensive rehabilitation therapies and Kristine Greer, D.P.T. assistive technology services. Joint hypermobility varies with age, gender (it is more common in females than ■ Beighton scale for assessing the Back Issues of males) and race. Often, it is familial. The condition is much more common in infants extent of joint hypermobility, P. 2 Kristine Greer earned a doctor- A Pediatric Perspective and young children than in adults (people tend to become less flexible as they grow ■ ate in physical therapy from the www.gillettechildrens.org/ older), and it occurs in a high percentage of Asian children. Randomly ascertained Physical Therapy Can Treat and University of Minnesota. She pediatricperspective Prevent Joint Hypermobility data on school-age children found that 50 percent of Chinese-Asian subjects had began working with adult and 2 3 Symptoms, P. 3 (inside flap) pediatric acute care patients at joint hypermobility as opposed to 7 percent of English-Caucasians . The average Mercy Hospital in Coon Rapids, age of onset of symptoms is 6.2 years, but the average age at diagnosis is 9.0 years, Minn. Shortly thereafter, Kristine indicating a two to three year delay in diagnosis.4 transitioned into full-time pediatrics at Gillette Children’s Specialty Healthcare. She has worked at Gillette’s Minnetonka and Maple Grove clinics.

www.gillettechildrens.org Diagnosing Joint Hypermobility Kyphoscoliosis, arthrochalsia and dermatosparaxis are rare Physical Therapy Can Address Joint Hypermobility Symptoms Typically, clinicians discover joint hypermobility when a ■ Beighton Scale types of EDS; classic, hypermobile and vascular EDS are child is evaluated for something else, such as: considered to be the major types. While classic and hyper- Joint hypermobility syndrome may have these clinical • Joint pain and/or fatigue mobile EDS primarily affect the skin and musculoskeletal implications: Passive dorsiflexion of the system, vascular EDS is of particular concern because of the • Deformities such as flat feet, bunions (See Fig. 2.), clubfeet, Pain – Patients might experience intermittent or activity- Postural Re-education and Joint Protection Principles metacarpophalangeal joint potential for arterial, bowel or uterine rupture. Consequently, hip dislocation or subluxation, and developmental related pain, especially among adolescents who are We educate patients about neutral sitting postures, avoid- beyond 90 degrees any patient who has joint hypermobility requires a more dysplasia of the hip (DDH); as many as half of children involved in sports and other activities. ing knee and elbow hyperextension while standing or in with DDH have signs of hypermobility 1 point for each hand thorough assessment to establish or rule out EDS. Increased fatigue quadruped positions, lifting mechanics, and the proper • Joint effusions Fibromyalgia and complex regional pain syndrome way to carry a backpack. • Injuries such as recurrent sprains or dislocations Balance – Patients who have excessive joint hyper- • Developmental delay Passive apposition of the thumb Managing Joint Hypermobility • Clumsiness mobility often have difficulty with balance and may Education on Stretching to the flexor aspect of the When a serious underlying genetic diagnosis such as Ehlers- have decreased awareness of a joint’s position during We recommend that patients avoid stretching hyper- • Gait abnormalities forearm Danlos syndrome is suspected, refer the patient for genetic movement (impaired proprioception). mobile joints to relieve pain. Instead, we focus on 1 point for each thumb testing, and potentially for assessment of bleeding disorders, Abnormal autonomic responses – Patients might have strengthening exercises to improve joint stability, mitral valve prolapse or aortic dilation. For concerns about postural orthostatic tachycardia syndrome, orthostatic which will eventually relieve patients’ symptoms. Fig. 2 - Bunions rheumatic conditions, refer the patient to a pediatric rheum- and flat feet in a atologist. hypotension or orthostatic intolerance. nine-year-old boy Orthopedic concerns and musculoskeletal injuries – Footwear and Bracing Hyperextension of the elbows For less involved cases, in which symptoms are primarily Patients might experience: Excessive ankle joint laxity and pes planus are more beyond 10 degrees musculoskeletal, refer the patient to a pediatric orthopedic Feet – Pes planus common in patients who have joint hypermobility. 1 point for each elbow surgeon, a pediatric rehabilitation medicine specialist or a Ankles – Ankle sprains We may recommend orthoses, footwear, ankle stabilizing physical therapist—depending on the extent of impairment. Knees – Patellofemoral pain and patellar instability braces and patellar stabilizing braces. At Gillette, we take an interdisciplinary approach to care and (subluxation/ dislocation) – Possible hip subluxation (rare to have actual hip At Gillette Children’s Specialty Healthcare, we use the draw on the appropriate specialists to address each patient’s Hips Gross Motor Skills dislocation); frequent hip subluxations can result in labral Children who have joint hypermobility syndrome Beighton scale to screen for joint hypermobility. The scale Hyperextension of the knees chief complaints. For example, a patient who has hip dysplasia tears. may have difficulties with coordination or gross assesses only a few joints and is based on four passive beyond 10 degrees will be assessed and may require orthopedic surgery. However, another less involved patient may be referred for physical maneuvers and one active maneuver. Instead of focusing 1 point for each knee Shoulders – Multidirectional shoulder instability, motor skills, and physical therapists will evaluate them on the degree of hypermobility at a particular joint, the tool therapy to address pain, strengthening, proprioception, shoulder impingement for delays in gross motor development. helps clinicians establish how widespread the hypermobility balance and delays in gross motor skills. Spine – Spondylolisthesis, scoliosis, degenerative disc is in that individual. A score of five or more defines general- disease, thinning of discs, stenosis and herniated discs Lifelong Physical Activity ized joint hypermobility. Delays in gross motor skills Maintaining an active lifestyle with strengthening Conclusion exercises can help provide stability to a joint and reduce Not only is the tool quick and easy to use, but it also Depending on a patient’s needs, our physical therapists painful symptoms. Physical therapists can provide Forward flexion of the trunk with Patients who present with symptoms of joint hypermobility provides an objective measure based on a nine-point will develop a plan that incorporates the following instruction on joint protection principles that can help scale, and it has high intra-rater reliability. As a result, knees fully extended so that the should have a thorough assessment to determine the extent principles and includes some or all of these treatments. minimize joint overuse during physical activity. the Beighton scale is considered the gold standard for joint palms of the hands rest flat on of the condition and establish whether joint hypermobility is

hypermobility assessment.5 the floor benign or symptomatic of a serious disorder such as EDS. 1 point Strengthening Exercises Once the extent of joint hypermobility is established, Patients who have joint hypermobility inherently have clinicians should assess nonmusculoskeletal factors, 1 http://www.medicinenet.com/hypermobility_syndrome/article.htm low muscular stiffness and joint instability. Gillette’s including: 2 Cheng J and Chan P. Joint laxity in children. J Pediatr Orthop. 1991, 11:752-756. physical therapists focus on strengthening proximal muscle groups (scapular stabilizers and trunk/core • Skin hyperelasticity, which results from defective collagen Evidence of the nonmusculoskeletal signs and symptoms 3 Carter C and Wilkinson J. Persistent joint laxity and congenital dislocation molecules in the skin mentioned at left is worrisome, because it points to more of the hip. J Bone Joint Surg Br. 1964, 40:40-45. muscles) to help improve joint stability. Trunk and core • Doughy or fragile skin, which tears easily or shows serious conditions such as Ehlers-Danlos syndrome, 4 Adib, N., K. Davies, R. Grahame, and KJ Woo. “Joint hypermobility syndrome stabilization exercises also help children learn to keep in childhood. A not so benign multisystem disorder.” Rheumatology (Oxford) excessive scarring osteogenesis imperfecta, Marfan syndrome and Larsen 44 (2005): 744-50. their joints in the neutral and protected range. • Excessive bleeding or bruising syndrome. 5 Byers, P. H., M. Duvic, M. Atkinson, M. Robinow, L.T. Smith, S.M. Krane, M.T. • Physical education difficulties Greally, M. Ludman, R. Matalon, S. Pauker, D. Quanbeck, U. Schwarze. “Ehlers- Proprioception and Balance Training • Hernias Danlos Syndrome Type VIIA and VIIB Results from Splice-Junction Mutations About Ehlers-Danlos Syndrome or Genomic Deletions that Involves Exon 6 in the COL1A1 and COL1A2 Genes of Closed chain exercises enhance proprioceptive feedback • Gingival recession Type 1 Collagen” Abstract. American Journal of Medicine Genetics (1997) and assist with control of the joint. Open chain multi- • Prominent veins, hemorrhoids, or early-onset varicose Joint hypermobility is one of the hallmarks of Ehlers-Danlos Oct 3; 72(1):94-105 directional exercises may be added in later stages of veins syndrome (EDS), an inherited connective tissue disorder. 6 Beighton, Peter, Anne De Paepe, Beat Steinmann, and Petros Tsipouras. “Ehlers- Hyperelastic skin and fragile tissue are also associated with Danlos syndrome nosology.” Ehlers-Danlos National Foundation. 30 Jan. 2008 rehabilitation, if the joints are stable. Static and dynamic • Blue sclera . Reprinted from the American Journal of Medical • Heart murmurs EDS. According to the Villefranche nosology, the syndrome is Genetics in the August 1998 issue of Loose Connections. balance training helps improve joint stability during • Family history classified into six main types: classic, hypermobile, vascular, functional and recreational activities. kyphoscoliosis, arthrochalsia and dermatosparaxis.6

2 3 Diagnosing Joint Hypermobility Kyphoscoliosis, arthrochalsia and dermatosparaxis are rare Physical Therapy Can Address Joint Hypermobility Symptoms Typically, clinicians discover joint hypermobility when a ■ Beighton Scale types of EDS; classic, hypermobile and vascular EDS are child is evaluated for something else, such as: considered to be the major types. While classic and hyper- Joint hypermobility syndrome may have these clinical • Joint pain and/or fatigue mobile EDS primarily affect the skin and musculoskeletal implications: Passive dorsiflexion of the system, vascular EDS is of particular concern because of the • Deformities such as flat feet, bunions (See Fig. 2.), clubfeet, Pain – Patients might experience intermittent or activity- Postural Re-education and Joint Protection Principles metacarpophalangeal joint potential for arterial, bowel or uterine rupture. Consequently, hip dislocation or subluxation, and developmental related pain, especially among adolescents who are We educate patients about neutral sitting postures, avoid- beyond 90 degrees any patient who has joint hypermobility requires a more dysplasia of the hip (DDH); as many as half of children involved in sports and other activities. ing knee and elbow hyperextension while standing or in with DDH have signs of hypermobility 1 point for each hand thorough assessment to establish or rule out EDS. Increased fatigue quadruped positions, lifting mechanics, and the proper • Joint effusions Fibromyalgia and complex regional pain syndrome way to carry a backpack. • Injuries such as recurrent sprains or dislocations Balance – Patients who have excessive joint hyper- • Developmental delay Passive apposition of the thumb Managing Joint Hypermobility • Clumsiness mobility often have difficulty with balance and may Education on Stretching to the flexor aspect of the When a serious underlying genetic diagnosis such as Ehlers- have decreased awareness of a joint’s position during We recommend that patients avoid stretching hyper- • Gait abnormalities forearm Danlos syndrome is suspected, refer the patient for genetic movement (impaired proprioception). mobile joints to relieve pain. Instead, we focus on 1 point for each thumb testing, and potentially for assessment of bleeding disorders, Abnormal autonomic responses – Patients might have strengthening exercises to improve joint stability, mitral valve prolapse or aortic dilation. For concerns about postural orthostatic tachycardia syndrome, orthostatic which will eventually relieve patients’ symptoms. Fig. 2 - Bunions rheumatic conditions, refer the patient to a pediatric rheum- and flat feet in a atologist. hypotension or orthostatic intolerance. nine-year-old boy Orthopedic concerns and musculoskeletal injuries – Footwear and Bracing Hyperextension of the elbows For less involved cases, in which symptoms are primarily Patients might experience: Excessive ankle joint laxity and pes planus are more beyond 10 degrees musculoskeletal, refer the patient to a pediatric orthopedic Feet – Pes planus common in patients who have joint hypermobility. 1 point for each elbow surgeon, a pediatric rehabilitation medicine specialist or a Ankles – Ankle sprains We may recommend orthoses, footwear, ankle stabilizing physical therapist—depending on the extent of impairment. Knees – Patellofemoral pain and patellar instability braces and patellar stabilizing braces. At Gillette, we take an interdisciplinary approach to care and (subluxation/ dislocation) – Possible hip subluxation (rare to have actual hip At Gillette Children’s Specialty Healthcare, we use the draw on the appropriate specialists to address each patient’s Hips Gross Motor Skills dislocation); frequent hip subluxations can result in labral Children who have joint hypermobility syndrome Beighton scale to screen for joint hypermobility. The scale Hyperextension of the knees chief complaints. For example, a patient who has hip dysplasia tears. may have difficulties with coordination or gross assesses only a few joints and is based on four passive beyond 10 degrees will be assessed and may require orthopedic surgery. However, another less involved patient may be referred for physical maneuvers and one active maneuver. Instead of focusing 1 point for each knee Shoulders – Multidirectional shoulder instability, motor skills, and physical therapists will evaluate them on the degree of hypermobility at a particular joint, the tool therapy to address pain, strengthening, proprioception, shoulder impingement for delays in gross motor development. helps clinicians establish how widespread the hypermobility balance and delays in gross motor skills. Spine – Spondylolisthesis, scoliosis, degenerative disc is in that individual. A score of five or more defines general- disease, thinning of discs, stenosis and herniated discs Lifelong Physical Activity ized joint hypermobility. Delays in gross motor skills Maintaining an active lifestyle with strengthening Conclusion exercises can help provide stability to a joint and reduce Not only is the tool quick and easy to use, but it also Depending on a patient’s needs, our physical therapists painful symptoms. Physical therapists can provide Forward flexion of the trunk with Patients who present with symptoms of joint hypermobility provides an objective measure based on a nine-point will develop a plan that incorporates the following instruction on joint protection principles that can help scale, and it has high intra-rater reliability. As a result, knees fully extended so that the should have a thorough assessment to determine the extent principles and includes some or all of these treatments. minimize joint overuse during physical activity. the Beighton scale is considered the gold standard for joint palms of the hands rest flat on of the condition and establish whether joint hypermobility is

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