Clinical Reasoning Considerations For

Home , Ligamentous laxity

Clinical Reasoning Considerations Kaitlin Barnet, SPT1 for the “Flexible” Patient: Megan Barker, PT, DPT, OCS1 1 A Ligamentous Laxity Overview Joseph Signorino, PT, DPT, OCS, FAAOMPT

1The George Washington University, Program in Physical Therapy, Department of Health, Human Function and Rehabilitation Sciences, Washington, DC

ABSTRACT supported by a large prevalence range from ate the specific needs in this hypermobile Background and Purpose: Individuals 2-57% for individuals with gJHM indicating population. with excessive joint hypermobility often seek inclusion criteria remains uncertain.3 Typi- The aim of this article is to present a review physical therapy care. Despite the common cally, a Beighton score of 4 out of 9 indicates of the literature regarding JHS and offer clin- clinical occurrence, a consensus is lacking on gJHM in a general adult population.1 There ical information to conservatively manage how to best conservatively address the specific are some additional studies indicating gJHM individuals with suspected or confirmed joint needs of this poorly understood population. is present in women if a score of 5 of 9 is hypermobility syndromes. Lastly, the article The aim is to explore concepts and clinical achieved, and a score of at least 6 out of 9 is could serve to identify knowledge gaps and reasoning considerations when treating a needed to determine the presence of gJHM areas for future research. person with a joint hypermobility syndrome in children.1,2 (JHS). Methods: A pragmatic outline was Joint hypermobility syndrome (JHS) JOINT HYPERMOBILITY established including clinical manifestations, occurs when joint hypermobility becomes CONDITIONS AND CLINICAL evaluation, prognosis, and clinical reason- symptomatic. These symptoms were previ- MANIFESTATIONS ing processes to determine intervention. The ously believed to be only limited to localized Individuals with joint hypermobility literature was identified through PubMed pain, instability, and decreased propriocep- often present to physical therapy due to joint and CINAHL. Clinical Relevance: Only a tion. However, a progressive understanding pain.6 Physical therapists must recognize the subset of individuals with joint hypermobil- appreciates this condition is much more patient’s underlying condition and how it is ity become symptomatic. Joint hypermobil- complex. Due to the nature of the tissues contributing to their current complaint. The ity syndrome includes many ligamentous affected, the condition can present in a physical therapist should appreciate the vari- laxity conditions requiring the clinician to variety of ways. In addition to the musculo- ous characteristics these conditions present appreciate different disease characteristics. skeletal complaints, such as increased likeli- with in order to properly address the indi- There are questionnaires and objective evalu- hood for joint sprains, meniscal injuries, vidual patient’s needs. ation tools available to assist with developing and stress fractures, other body systems are The common characteristics of EDS, individualized treatment. Conclusion: The affected manifesting as disturbances in pain Marfan syndrome, Osteogenesis imperfecta, evaluation and construction of a meaningful perception, anxiety, fatigue, and gastrointes- and Down’s syndrome are listed in Table 1. treatment plan for individuals with JHS can tinal interruptions.4-7 Congenital conditions Table 1 identifies the most common condi- be challenging. Combined clinical knowl- that present with ligamentous laxity and tion characteristics that may help construct edge and sound clinical reasoning processes subsequent joint hypermobility are Down’s a differential diagnosis, although it is not a can assist with optimizing outcome. syndrome, Marfan syndrome, Loeys-Dietz complete list of symptoms related to joint syndrome, and Osteogenesis imperfecta.8-10 hypermobility. Ehlers-Danlos syndrome Key Words: Ehlers-Danlos, generalized Joint hypermobility syndrome is considered presents with many different types. Ehlers- hypermobility, joint hypermobility by some sources to be a mild form of Ehlers- Danlos syndrome, hypermobility type III is Danlos syndrome (EDS) hypermobility type the most common and has an almost iden- INTRODUCTION while other sources indicate JHS is a diagno- tical clinical presentation to JHS.4,12 Unfor- Joint hypermobility is defined as the sis of exclusion and separate from EDS.8 tunately, JHS can often be considered a ability of a joint to move past the clinically Conservative management by a physical diagnosis of exclusion.8 defined normal standards for range of motion therapist is often the preferred first method In addition to musculoskeletal com- (ROM).1 It can occur at one joint or at mul- of treatment for these conditions due to plaints, many individuals may report high tiple joints throughout the body. When their musculoskeletal nature. Treatment can levels of fatigue, depression, and anxiety with excessive motion occurs in multiple joints, vary from stability exercises, proprioception any ligamentous laxity condition.8 Other it is characterized as generalized joint hyper- training, and patient education. Patient edu- clinical observations may include a lack of mobility (gJHM). Generalized joint hyper- cation is focused on modifying movement, proprioception, generalized hyperalgesia, mobility is asymptomatic with no functional lifestyle changes, and addressing persistent various neuropathies including tarsal tunnel loss despite having increased ROM. Identify- pain.11 Unfortunately, there is little consensus and carpal tunnel syndrome, ptosis, varicose ing an individual with gJHM is often made for the best way to manage individuals with veins, low bone density, and postural ortho- using the Beighton score.1 The cut-off scores a joint hypermobility condition; therefore, static tachycardia syndrome. Patients may for the Beighton assessment are inconsistent an increased awareness and understanding present with bowel and bladder dysfunction, and lack a consensus on how to best iden- of JHS is important as physical therapists including pelvic organ prolapse.8,13 tify individuals with gJHM.1,2 This is further are the best health care provider to appreci-

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9000_OP_July.indd 19 6/22/20 12:33 PM CLINICAL EVALUATION Table 1. Review of Specific Joint Hypermobility Syndromes Along with Common Individuals may arrive to physical therapy Characteristics to Assist with Recognition with an undiagnosed ligamentous laxity condition. It would be prudent for the physical Joint Hypermobility Syndromes Common Clinical Presentations therapist to properly screen for ligamentous Ehlers-Danlos syndrome8 Bilateral clubfoot laxity and consider referral to the proper Developmental delays medical provider for diagnosis and additional • Classic Type (I) Dysmorphic facies management. • Vascular Type (IV) Extensive and easy bruising A thorough subjective history is recom- • Kyphoscoliotic Type (VI-A) Large hernias mended during a clinical evaluation for an • Musculocontractural Type (VI-B) Marfanoid habitus • Dermatosparaxis Type Muscle weakness individual with suspected JHS. The subjec- Scleral fragility tive intake should aim to gain an understand- Scoliosis ing of the current and past injury and health Sensory neural hearing loss history, mechanism of injury, and aggravat- Severe muscle dystonia ing and alleviating factors. Identifying how Severe muscle hypotonia Skin hyperextensibility these complaints influence functional loss is Thin translucent skin important. Velvety skin texture The objective evaluation should include ROM measurements while noting if these Marfan syndrome8 Ascending aorta dilation are outside of typical norms. Strength mea- Fingers and toes abnormally long and slender Funnel chest sures and a general neurological screen High palate should be assessed. Blood pressure and heart Muscle hypoplasia rate measurements within the initial session Scoliosis is advisable due to the common occurrence 10 of related hypotension. Functional tasks Osteogenesis imperfecta Aortic root dilation Conductive deafness should be observed to understand the indi- Decreased pulmonary function vidual’s movement strategies, motor control, Heart murmurs and compensations. Both daily functional Scoliosis tasks and sport specific tasks should also be Teeth discoloration observed. Down’s syndrome9 Brachycephaly Flat nasal bridge Subjective Examination Folded ear The Hakim and Grahame questionnaire Gap between 1st and 2nd toes (Table 2) and musculoskeletal and non-mus- Incurved 5th finger culoskeletal screening questions (Table 3) Muscular hypotonia Narrow palate can assist with developing a list of differential Nystagmus diagnoses.8,13,14 It is important to investigate Oblique eye fissure the timeline of symptom development, espe- Short neck cially childhood presentations, to determine a progression or long-standing presentation of related injuries or pain. The individual may describe multi-system involvement, 17,18 including gastrointestinal, vascular, and questions from Table 2 can lead the clini- tibular and somatosensory dysfunction. bowel/bladder issues. They may report clum- cian to perform movements described in the Static measures may include single leg siness, unsteadiness, or coordination deficits. Beighton score during the examination for stance with eyes open, eyes open with cervi- 17,18 After ruling out more serious pathologies, additional objective data. This information cal extension, and eyes closed. Dynamic these responses can increase suspicion of a can then be incorporated into the Brighton measures may include single leg squat, single JHS diagnosis. The patient responses to the score (Table 5) to determine if a JHS diag- leg hop tests, Y-balance test, or star excursion 16 1,17 Hakim and Graham short questionnaire will nosis is suspected. Joint hypermobility balance test. Impairments may be found assist in development of a thorough objective syndrome is considered present when the in some or many of these measures to help examination and patient centered goals.14 individual presents with one of the following: with development of the individual’s plan of (1) 2 major criteria, (2) 1 major and 2 minor care. Typical outcome forms, such as the Hip Objective Examination criteria, and/or (3) 4 minor criteria (Table Outcome Score, may be used to periodically 16 The Beighton score is a widely used 5). Recall, symptomatic complaints limit- assess functional progress, or decline, during 19 measure of gJHM and is helpful in quickly ing function is a key characteristic difference the plan of care. observing if excessive ROM is present in between gJHM and JHS. This is not an exhaustive list and addi- multiple joints. An adult individual is con- Additional static and dynamic balance tional objective measures may be needed to sidered positive for gJHM with a score of 4 measures may be helpful in developing a address a specific individual’s complaint and out of 9 or greater; for children 6 out of 9 complete clinical picture. This is because goals. or greater (Table 4).15 Positive responses to individuals with JHS frequently have ves-

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9000_OP_July.indd 20 6/22/20 12:33 PM Table 2. Five Question Screening Questionnaire to Assist Clinicians to Identify PROGNOSIS AND CLINICAL Individuals with Joint Hypermobility14 REASONING PROCESS FOR DETERMINING INTERVENTION Patient Questions to Ask if Joint Hypermobility is Suspected The prognosis for JHS is generally considered good since it is a nonprogressive and - Can you now (or could you ever) place your hands flat on the floor without bending your knees? noninflammatory condition. Joint hypermobility tends to naturally decrease as the - Can you now (or could you ever) bend your thumb to touch your forearm? individual ages providing a natural “protec- - As a child, did you amuse your friends by contorting your body into strange shapes or could you 8 do the splits? tion” to the joint. Common sense reasoning indicates preserving the joint will ultimately - As a child or teenager, did your shoulder or kneecap get dislocated on more than one occasion? promote and sustain function; however, avail- - Do you consider yourself double jointed? able data to support this concept is lacking. A “Yes” answer to 2 or more of the above questions has 80% sensitivity and 90% specificity for Longitudinal studies are needed to ultimately indicating the individual has joint hypermobility.2 determine long-term prognosis associated with the recommended management strategy, but it is recognized there are short-term benefits to conservative management includ- Table 3. Multi-system Screening Questions for Individuals with JHS ing pain control and functional capacity. (Adapted Questions)8,13 While it is necessary to address the individual’s area of primary concern, it is likely Subjective Questions Common Responses the individual will have, or currently has,

1. Did you have any injuries or notable Periods of joint pain commonly occur in the multiple areas of pain or dysfunction. Areas periods of pain as a child? posterior knees. Also, the patient may report of pain and dysfunction should be addressed a history of benign paroxysmal nocturnal leg directly while also incorporating general pain (growing pains). exercise strategies. The hypermobile person may benefit from an individualized exercise 2. Did your subluxation/dislocation and/or Minimal impetus is needed for the fracture or fracture occur without great provocation? subluxation/dislocation to occur. program but detailed information on a well- rounded program is not well established.20,21 3. Do injuries take a long time to heal? Injuries may heal more slowly than standard Clinicians may incorporate aerobic capac- tissue healing timeline. ity, strength, coordination, and motor control training that address all systems rather 4. Do you have a family history of joint Often times there is a positive family history. hypermobility? than only the direct areas of pain. This approach may also assist with long-term 5. Can you describe your pain? Pain is often reported as dull. self-management of symptoms. For those individuals with high irritability or difficulty 6. When do you have your pain? Reports baseline pain but symptoms are made participating in full weight-bearing activi- worse with activity. Symptoms typically feel the best in the morning and worst at the end ties, low impact training like water aerobics, of the day. Activities that use the involved joint modifiedswimming strokes, water treadmill, influences pain. body weight supported treadmill, or ellip- tical may be beneficial to begin an exercise 7. D o you feel fatigue? Fatigue, sometimes severe, is a common program. symptom, as well as sleep disturbance. Fatigue must be considered when devel- 8. D o you have headaches? Headaches are a common symptom; these may oping an exercise program since it is a very be migraines or other. common symptom within the JHS population. Clinicians should ensure proper edu- 9. D o you ever feel lightheaded? Reports feeling lightheaded or dizzy at various cation on a gradual increase in duration of times. Low blood pressure, a fast heart rate, and increased sympathetic tone are common activity with greater rest times to allow for symptoms. proper recovery and joint protection. A common complaint can also include distur- 10. D o you have any stomach discomfort? Commonly reports bloating, nausea, or bance in restful sleep. If there is a disturbance vomiting after meals. Often encourages eating in sleep reported, guidance on proper sleep less. hygiene and education on sleep positioning 11. D o you feel uncoordinated or clumsy? Balance deficits, unsteadiness and clumsiness may assist to promote successful sleep. are symptoms are often reported. The proprioceptive impairments typically observed in the JHS population can be 12. Ar e you experiencing any symptoms that Symptoms may include bowel and bladder addressed with closed kinetic chain strength- you feel are unrelated to the incidence dysfunction and prolapse of pelvic organs. 22,23 bringing you to physical therapy? ening and training on dynamic surfaces. These individuals will likely need postural education during functional tasks that may include use of tactile cues, taping, and mirror

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9000_OP_July.indd 21 6/22/20 12:33 PM Table 4. The Beighton Score is a Clinical Objective Test for Joint Hypermobility. long-term follow-up with a physical therapist Variability exists for cut-off scores.1 due to fluctuations in symptoms and poten- tial involvement of multiple joints and body Beighton Score Scoring systems. Once the individual’s acute symp-

toms have stabilized and an individualized - Passive flexion of the thumb allows the touch of the volar aspect of the 1 point per forearm (repeat on both sides) side exercise program has been developed, less fre- - Passive hyperextension (>90°) of the fifth finger with the palm and wrist 1 point per quent visits are recommended with contin- touching a solid surface (repeat on both sides) side ued monitoring. Deductive clinical reasoning - A ctive hyperextension (>190°) of the elbows with the upper limb extended 1 point per processes must be incorporated to best direct 26 and the palm turned up (repeat on both sides) side the patient. These individuals may also ben- - Active hyperextension (>190°) of the knees while the subject stands up 1 point per efit from use of telehealth services or other (repeat on both sides) side remote communication media for ongoing - Active hyperextension of the lumbar spine by inviting the subject to touch 1 point monitoring to eliminate the need for fre- the floor with both palms but without flexing the knees per side quent in-clinic visits. Generalized joint hypermobility: ≥4 for adults1,2,15 Children: ≥5, 6 or 7 is remarkable for joint hypermobility15 CONCLUSION Female Adults: ≥ 5 is remarkable for joint hypermobility15 It is important to appreciate the difference between asymptomatic gJHM and symptomatic JHS. Only when individuals with joint hypermobility become symptomatic Table 5. The Brighton Score for Joint Hypermobility Syndrome and is it important to consider the varying pos- Classification Criteria16 sible diagnosis associated with JHS. Proper Brighton Score for Joint Hypermobility Syndrome conservative management at any stage of Major Criteria the hypermobile condition can be meaning- 1. Beighton score of 4/9 or greater ful. Earlier intervention would be optimal as 2. Arthralgia for more than 3 months in 4 or more joints education and intervention could influence the trajectory of the individual’s condition to Minor Criteria best preserve overall joint health. 1. A Beighton score of 1, 2, or 3 out of 9 (0-3 if over age 50) It is advisable to subjectively screen indi- 2. Ar thralgia for ≥ 3 months in 1-3 joints, or back pain ≥ 3 months, or spondylosis, spondylolysis, viduals with suspected ligamentous laxity spondylolisthesis issues while considering specific objective 3. Dislocation or subluxation in more than one joint, or in one joint on more than one occasion tests, such as the Beighton and Brighton 4. Soft tissue rheumatism in ≥ 3 locations (eg, epicondylitis, tenosynovitis, bursitis) score, to quantify the overall joint hypermo- 5. Marfanoid habitus bility. The combined subjective and objective 6. Abnormal skin (eg, striae, hyperextensible, thin, papyraceous scarring) information will help develop an individual- 7. Eye abnormalities (eg, drooping eyelids, myopia and mongoloid slant) ized treatment plan and estimate prognosis. Conservative management recommenda- 8. Varicose veins or hernia or uterine/rectal prolapse tions can and should include low impact aer- Remarkable for Joint Hypermobility Syndrome if: obic exercise, proprioception and balance - Two major criteria are present training, and strength building activities. OR Addressing any mental health needs may also - One major and two minor criteria are present be necessary, especially if functional prog- OR ress is impeded. Lastly, stepping away from - Four minor criteria are present a “joint only” treatment approach is necessary when working with individuals with JHS. The clinician much appreciate JHS is a multi-system issue in order to optimize both feedback due to impaired proprioceptive therapy may be recommended to assist with short-term and long-term outcomes. Sound awareness.13 coping strategies and to address any associ- clinical reasoning can assist with develop- Medical management including nonste- ated fear and anxiety of future injury in these ment of an effective conservative manage- roidal anti-inflammatory medication could individuals.8 ment strategy to best match the patient’s assist in reducing acute symptoms; however, Most individuals with JHS can be con- needs. Addressing single joint flare-ups or this is not recommended as a long-term man- servatively managed; however, if there are localized injury associated with a ligamen- agement strategy.13 The physical therapist repeated joint subluxations or dislocations tous laxity syndrome may be necessary in the should screen for the presence of anxiety and with related pain and functional loss, a sur- short-term, but if a person with multi-joint, depression as these are frequently observed in gical referral should be considered.25 The non-traumatic issues seeks care, then a com- this population.24 Consider a mental health common goal should be to preserve the prehensive approach should be considered to referral if screening is positive and especially longevity of the joint by reducing repeated guide the patient to a long-term optimal out- if the individual’s mental health is promoting injury. come. This literature review identified future fear-avoidance behavior. Cognitive behavior Individuals with JHS will likely need research could include systematic reviews on

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9000_OP_July.indd 22 6/22/20 12:33 PM conservative management for individuals with JHS. Recognizing the unique characteristics and special needs of this under-rec- clinical diagnosis of down syndrome. functional movement control in an elite ognized and under-studied population is Ulster Med J. 2004;73(1):4-12. netball population: A preliminary cohort necessary to best promote optimal care for 10. Palomo T, Vilaça T, Lazaretti-Castro M. study. Phys Ther Sport. 2014;16(2):127- the “flexible” patient. Osteogenesis imperfecta: diagnosis and 134. doi: 10.1016/j.ptsp.2014.07.002. treatment. Curr Opin Endocrinol Diabetes 19. Stone AV, Mehta N, Beck EC, et al. REFERENCES Obes. 2017;24(6):381-388. doi: 10.1097/ Comparable patient-reported outcomes MED.0000000000000367. in females with or without joint hyper- 1. Scheper MC, Engelbert RHH, Rameck- 11. Smith TO, Bacon H, Jerman E, et al. mobility after hip arthroscopy and ers EAA, et al. 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