EDNF Center for Clinical Care & Research at GBMC

2014 PHYSICIANS CONFERENCE September 15, 2014

Physical Therapy in the Management of EDS

Jan Dommerholt, PT, DPT, DAAPM

Ehlers Danlos Syndrome

Disclosure

I do not have any relevant financial relationships with any commercial interests.

Disclosure II:

Returned from Dubai this morning and may fall asleep half way my presentation

EDS – Classical (Type I/II) EDS – Hypermobility (Type III)

Villefranche Nosology 1997

EDS-HT • Is the most difficult to

recognize due to the lack of clinical diagnostic handles and confirmatory laboratory/molecular tests

• Is the most common EDS variant

• Has a high disability potential

EDS-HT • Quality of life is often poor in adults and

children with EDS-HT

• Associated with chronic, frequently debilitating musculoskeletal pain, ongoing joint hypermobility can lead to severe arthritis and physical limitations

Murray B, et al. EDS-HT: A characterization of the patients’ lived experience. AJOMG. 2013

Ehlers-Danlos Syndrome

• A common, heritable trait being observed in up to 10%–30% of males and 20%–40% of females

Hakim A, Grahame R. 2003. Joint hypermobility. Best Pract Res Clin Rheumatol 17:989–1004.

• Often considered as “irrelevant” Moriatis Wolf J, Cameron KL, Owens BD. 2011. Impact of joint laxity and hypermobility on the musculoskeletal system. J Am Acad Orthop Surg 19:463–471.

Tinkle BT, Bird HA, Grahame R, Lavallee M, Levy HP, Sillence D. The lack of clinical distinction between hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome. Am J Med Denet A. 2009; 149A(11):2368-70

10% of physicians referring EDS-HT patients to rheumatology clinics realized that their joint hypermobilty was the underlying cause of their patient’s pain

Adib et al. Joint hypermobility syndrome in childhood. A not so benign multisystem disorder? Rheumatology. 2005

Ann Rheum Dis 2001;60:894–895

Hyperextension

Pes Planus

Scoliosis and

positive Trendelenburg

Generalized Ligamentous Laxity May Be A Predisposing Factor For Musculoskeletal Injuries

• Generalized ligamentous laxity is common in individuals who presented with a musculoskeletal injury

• It may be a predisposing factor for musculoskeletal injuries

J Sci Med Sport. 2014 Sep;17(5):474-8

Individuals with EDS-HT are characterized by specific plantar pressure patterns that are likely to be caused by the morphologic and functional foot modification

Research in Developmental Disabilities 34 (2013) 3720–3726

Gait in adults with EDS • EDS-HT group

demonstrated a non-physiological gait pattern

– Shorter step length

– More time in stance phase

– Altered forces at the ankle and pelvis (hip and knee were similar to controls)

Galli M et al. Gait strategy in patients with EDS-HT. A kinematic and kinetic evaluation using 3D gait analysis. Research in developmental disabilities. 2011

“Obviously, your cane is too long.”

Hypermobile women might alter their gait pattern in order to stabilize their knee joint: higher mean activation levels during stance of the vastus medialis (P = 0.049) and lateralis (P = 0.030), and medial gastrocnemius (P = 0.011) muscles

Clin Biomech (Bristol, Avon). 2013. 28(9-10):1020-5

Physical Therapy

• Physical therapy is general accepted as an efficient treatment for musculoskeletal complications of EDS

Keer R, Simmonds J. 2011. Joint protection and physical rehabilitation of the adult with hypermobility syndrome. Curr Opin Rheumatol 23: 131–136

• Physical therapy has limits especially concerning time spent (by both the practitioner and the patient), inter-operator variability, and long-term efficacy

Castori M et al.2012. Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach. Am J Med Genet Part A 158A:2055–2070.

Aspects of Physical Therapy

• Education

• Pain management

• Training/Conditioning: – Posture

– Stabilization

– Strengthening

• Basic concepts: – Mid range of motion

– Motion is lotion

Education

Gymnastics?

Stretching?

Ballet?

Yoga?

Joint Protection

Sports Participation

Biomechanics

Asymmetrical Arm Swing; Hyperlordosis; + Trendelenburg; Hip & Knee Flexion; Internal Rotation of the Hips; Excessive A n k l e P r o n a t i o n ; P o o r H e e l S t r i ke ; F l a t F e e t

Aspects of Physical Therapy

• Medical/Neurosurgical consultation

• Modules:

– EDS

– Cervical spine instability

– Chiari malformation

– Anterior brainstem compression

– Tethered cord

Courtesy Dr. A. Atiq Durrani, MD Center For Advanced Spine Technologies

Cincinnati, OH

Cervical spine instability

Exercise • Thought to be the

key component of physical therapy programs for EDS

• Yet, poor outcomes are common

• Avoid lever arms (result in poor joint stabilization)

SOME COMMON PROBLEMS WITH EXERCISE

• Pain

• Fatigue

• Anxiety / Fear Avoidance / Depression

• Compliance

“…. the pain will ease but only when the muscles are strong and fit and are protecting the joints more fully, and when the child is functioning normally both biomechanically and generally…. …. the pain is the last thing to improve and only does so slowly…..

Maillard & Payne; Physiotherapy and occupational therapy in the hypermobile child. In: Hakim, Keer & Grahame: Hypermobility, Fibromyalgia and Chronic Pain. Churchill Livingstone, Elsevier, 2010

Pain or No Pain?

The complaints reported were

• Musculoskeletal (98%)

• Pseudoneurological (96%)

• Gastrointestinal (94%)

• Allergic (73%) and

• Influenza-like (58%)

International Journal of Nursing Studies 48 (2011) 720–724

Intern J Nursing Stud 48 (2011) 720–724

Respondents reported experiencing a broad range of symptoms and diagnoses that impacted the following categories: • Joints (99%) • Cardiovascular system (96%) • Gastrointestinal system (96%) • Skin (95%) • Neurological/psychological

manifestations (88%) • Genitourinary system (67%)

• 67% reported constant pain

• 22% reported intermittent pain

• Only 0.6% of the study respondents reported they did not experience pain on a regular basis

• Levels of pain were significantly correlated with higher number of symptoms

• Tiring/exhausting pain (93%)

• Aching (80%)

1 = No pain; 2 = Mild pain; 3 = Moderate pain; 4 = Worst possible pain, or severe

Growing Pain

433 children (3-9 y.o.)

219 boys

214 girls 41% (177)

JHM

28% (122) GP

42% (75) GP

65% (75) JHM

Viswanathan V, Khubchandani RP. Joint hypermobility and growing pains in school children. Clinical and Experimental Rheumatology. 2008;26(5):962-6.

“Waiting for the pain to go before returning to physical activity is not going to work, because inactivity and abnormal movement are the two most important driving forces for the pain”

Maillard & Payne; Physiotherapy and occupational therapy in the hypermobile child. In: Hakim, Keer & Grahame: Hypermobility, Fibromyalgia and Chronic Pain. Churchill Livingstone, Elsevier, 2010

Muscles crossing hypermobile joints are constantly trying to create stability through the formation of contractures

Clinical Observation

Development of Myofascial Pain

• 18% patients with cervical

myofascial pain are

hypermobile

Sahin N, Karatas ̧ O, Ozkaya M, Cakmak A,

Berker E. 2008. Demographics features,

clinical findings and functional status in a

group of subjects with cervical myofascial pain

syndrome. Agri 20:14–19.

• In our office, 100% of EDS

patients have a myofascial

component to their pain

Trigger points are strong sources of peripheral nociceptive input that can powerfully potentiate the central nervous system hyperexcitability

Giamberadino et al. J Pain 2007

New Research

The role of active myofascial trigger points in Ehlers-Danlos Syndrome

Dommerholt J, Francomano C & Ge H-Y in progress

n

Enthesopathy Enthesopathy

Trigger Point

Fatigue Chronic fatigue is a persistent overwhelming sense of tiredness, lack of energy, and feeling of exhaustion common in EDS

EDS ? Chronic Fatigue

Syndrome

Nijs J, Aerts A, De Meirleir K. 2006a. Generalized joint hypermobility is more common in chronic fatigue syndrome than in healthy control subjects. J Manipulative Physiol Ther 29:32–39.

Multiple studies demonstrated that chronic fatigue is a major contributor to disability in EDS-HT

Castori M. 2012. EDS-HT: An under-diagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations. Castori M et al. 2012. Management of pain and fatigue in the joint hypermobility syndrome: Principles and proposal for a multidisciplinary approach.

sleep disturbances

concentration problems

social functioning

self-efficacy

pain

DETERMINANTS OF FATIGUE

Voermans NC, Knoop H, van de Kamp N, Hamel BC, Bleijenberg G, van Engelen BG. 2010. Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos syndrome. Semin Arthritis Rheum 40:267–274.

Sleep

• All 34 patients with EDS presented with sleep-disordered breathing.

• Results in daytime fatigue and poor sleep

• Orofacial growth may be disturbed in EDS leading to sleep-disordered breathing

Guilleminault C: Sleep-Disordered Breathing in Ehlers-Danlos Syndrome:A Genetic Model of OSA. Chest. 2013;144(5):1503-1511

• Fatigue severity in EDS was significantly correlated with measured and self-reported muscle weakness (r = −0.408 for manual muscle strength, r = 0.461 for hand-held dynamometry and r = 0.603 for self-reported muscle weakness)

• Muscle weakness and pain severity were significant predictors of fatigue severity

Physiotherapy 97 (2011) 170–174

Anxiety, Fear & Depression

• 42% of respondents with tiring and exhausting pain reported taking an anti-depressant medication

• The consequences of a complex chronic pain syndrome inadequately managed by available therapy?

• Lack of recognition and knowledge of the disease can lead to stigmatization and the sensation of living ‘‘a restricted life’’

Berglund B, Anne-Cathrine M, Randers I. 2010. Dignity not fully upheld when seeking health care: Experiences expressed by individuals suffering from Ehlers-Danlos syndrome. Disabil Rehabil 32:1–7 Berglund B, Nordström G, Lützen K. 2000. Living a restricted life with Ehlers-Danlos syndrome (EDS). Int J Nurs Stud 37:111–118

• 15-year prospective cohort

• 158 subjects aged 16 to 20 years from the general population in a Spanish rural town

• Joint hypermobility syndrome at baseline was found in 29 of 158 subjects (21.1%)

• Cumulative incidence of panic/agoraphobia disorder at follow-up, as main diagnosis, was significantly higher for the JHS group (41.4%) than for the control group (1.9%), with a relative risk of 22.3 [95% confidence interval (CI) 4.6–108.7, Pb.0001]

Kinesiophobia It defines fear of movement

It worsens during physical movement

Amplifies muscular deconditioning

Catastrophizes physical impairment and general exhaustion

Compliance

• Of 364 patients, 73% were referred to exercise rehabilitation, 42% did not complete the ECR and 28% never showed up

• Up to 70% of patients do not engage in prescribed home exercise

Laustsen et al: Predictors for not completing exercise-based rehabilitation following cardiac surgery. Scand Cardiovasc J. 2013;47(6):344-51 Beinart NA: Individual and intervention-related factors associated with adherence to home exercise in chronic low back pain: a systematic review. Spine J. 2013;13(12):1940-50

Consult a physical and/or occupational therapist to help patients strengthen

muscles and to teach patients how to properly

use and preserve their joints

EDS in the Physical Therapy

Journal

Only about 4% of physiotherapists admit liking the management of chronic pain patients

Wolff MS et al 1991 Physical Therapy 71:207-214

What does the research say about PT and exercise?

Not much…….

Patients with EDS-HT (N=79; 8 men, 71 women)

92.4% used medications (mostly analgesics)

70.9% underwent surgery (mainly extremities and abdomen)

Rombaut et al. Arch Phys Med Rehabil 2011;92:1106-12

51.9% were enrolled in a physical therapy program, mainly comprising neuromuscular exercises, massage, and electrotherapy

Patients with a high consumption of analgesics, who visited the physiotherapist, or who underwent surgery had a higher dysfunction in daily life

Rombaut et al. Arch Phys Med Rehabil 2011;92:1106-12

• Only 33.9% of the patients who underwent surgery reported a positive outcome

• Only 63.4% of patients in physical therapy reported a positive outcome

Rombaut et al. Arch Phys Med Rehabil 2011;92:1106-12

2001 titles were identified

Four articles met the inclusion criteria, comprising one controlled

trial, one comparative trial and two cohort studies

All studies found clinical improvements over time

Physiotherapy. 2014;100(3):220-7

No convincing evidence that exercise was

better than control or that joint-specific and

generalized exercise differed in effectiveness

Physiotherapy. 2014;100(3):220-7

REINVENT PHYSICAL THERAPY

• Poor compliance

• Mediocre outcomes

EXERCISE SHOULD BE FUN

Have so much fun that you forget you are exercising

I pay you five pebbles a session to be my personal trainer, but

all we ever do is swim!

Develop individualized exercise programs

Local stability

Cardiovascular conditioning

Core stability

Function in Mid Range-of-Motion

www.silverringsplint.com

Joint Stability

Agility Training

Proprioception

Strength Training

Specific Endurance Training Proprioception

Increase Endurance

Cardiovascular Muscular

Whole Body Stability

Groove Motor Patterns (Mid ROM) Proprioception

Individual Joint Stability

Groove Motor Patterns (Mid ROM) Proprioception

The ability to sense stimuli arising within the body regarding position,

motion, and equilibrium. Even if a person is blindfolded, he or she

knows through proprioception if an arm is above the head or hanging

by the side of the body.

• Impaired proprioception at PIP and knee joints

• Poor joint kinesthesia and position sense

• Affects multiple body segments

• Impairs balance and posture

• Clumsiness, tendency to fall, fear of falling

Castori M. 2012. EDS-HT: An under-diagnosed hereditary connective tissue disorder with

mucocutaneous, articular, and systemic manifestations.

In kids… Poor proprioception may results in

Delayed autonomous walking

Tip-toe walking

Lack of crawling

Clumsiness

Dyspraxia

Castori M. 2012. EDS-HT: An under-diagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations.

Proprioception

Fatoye F, Palmer S, Macmillan F, Rowe P, van der Linden M. Proprioception and muscle torque deficits in children with hypermobility syndrome. Rheumatology. 2009:48(2):152-7

Batak

Fun combined with cognitive challenges

• Self-Efficacy

• Anxiety

• Depression

• Fear avoidance (kinesiophobia)

Self-Efficacy

Makoto

Anxiety Exercise increases • Serotonin – improved

performance of the prefrontal cortex

• Norepinephrine

• Gamma-aminobutyric acid (GABA)

• Brain derived neurotrophic factor (BDNF)

• Atrial natriuretic peptide (ANF)

D 2

Depression Exercise reduces • Anxiety

• Depression

• Neurotic behaviors

De Moor MH et al: Regular exercise, anxiety, depression and personality: a population-based study. Prev Med. 2006;42(4):273-9

Whole Body Vibration • Whole-body vibration training may

be a useful tool for improving muscle strength and balance

• Most of the studies showed positive effects of WBV on health-related physical fitness in children and adolescents with disabilities

• Achieves improvement in body composition and muscular strength

El-Shamy SM: Effect of whole-body vibration on muscle strength and balance in diplegic cerebral palsy: a randomized controlled trial. Am J Phys Med Rehabil. 2014 Feb;93(2):114-21 Matute-Llorente A et al: Effect of whole-body vibration therapy on health-related physical fitness in children and adolescents with disabilities: a systematic review. J Adolesc Health. 2014;54(4):385-96

Mission Impossible?

• Focus on the task

• Outcome oriented

• Success builds success

• Fun

• Improved outcomes?

• Mission Possible??

I can’t afford that diagnosis. Don’t you have a cheaper one?