Ehlers-Danlos syndrome hypermobility type – Hypermobility Spectrum Disorder in children
Ross Hauser, MD , Caring Medical Regenerative Medicine Clinics, Fort Myers, Florida
Many people reach out to our office after their children have been given a diagnosis of either Generalized joint hypermobility, Hypermobility Spectrum Disorder, or Ehlers-Danlos syndrome hypermobility type. They reach out to us because they are no longer looking for explanations as to what these disorders are, or even what makes them different. They are looking for treatment options.
When parents talk to us they say things like:
My daughter sometimes has extreme joint pain. There is nothing, we are told, we can do for her except give her painkillers and make her comfortable. We got her stuffed toys and big pillows that she could wrap herself around and hug them when her pain got bad. When her pain gets really bad, she hugs me.
She has had this pain for a few years. We did not know what was wrong with her, the doctors did not know what was wrong with her. The one thing we all knew was that she could hyperextend her elbows and knees and hands almost backwards. Then her shoulder and hip started popping out on occasion but she got good at getting them right back in.
One doctor told us the reason she has joint pain and frequent dislocations was because of the hypermobility. We knew she was hypermobile, what we did not know was what we could do for her. We were given no treatments that seemed to address the problem head on. The best treatment we got were shoe inserts and knee braces to help her stand straight and walk. Her knees and ankles could give way. She has fallen over. She has suffered some minor fractures. She has suffered from several dislocations. She gets a lot of intense physical therapy that seems to help but sometimes it feels like one step forward, two steps back. The worst days are the days she has to use a wheelchair to get around.
The parents we talk to have had an often confusing and frustrating medical journey story to tell us. Probably just like yours. Certainly just like yours. Some parents will now recognize that this is a hereditary disorder. They themselves, as youngsters had many of these same symptoms and for some of them, just like today, no one knew then what could help. Some of these parents thought they had grown out of it, or that their symptoms lessened because more adult muscle made them stronger. But when we ask the parents what are their own complaints? The response back is usually joint pain, sometimes their joints pop in and out of place, and a lot of fatigue.
A brief discussion on children’s anxiety
Before we discuss treatments for Joint hypermobility syndrome, Ehlers-Danlos syndrome hypermobility, and Hypermobility Spectrum Disorder, let’s address psychosocial support or an understanding that this physical problem is causing emotional problems in children.
A 2019 study (1) lead by Andrea Bulbena-Cabre, MD, PhD, MSc a research fellow at the Icahn School of Medicine at Mount Sinai, New York evaluated children suffering with Joint hypermobility syndrome for anxiety disorders. Previously there had been no research on this subject.
- Her research team looked at a sample of 160 children (74 girls and 86 boys) ranging from ages 5 to 17. The prevalence of Joint hypermobility syndrome in this sample was 22%, and this was significantly higher in girls (31%) than in boys (14%).
- The Joint hypermobility syndrome group tested significantly higher in the Children Manifested Anxiety Scale test, the Children Manifested Anxiety Scale Physiological anxiety test and the Child Behavior Checklist somatic complaints test. The Joint hypermobility syndrome group also scored higher in some behavioral measures.
CONCLUSION: Children with Joint hypermobility syndrome have higher frequency of anxiety disorders and higher intensity of physiological anxiety, somatic complaints, and therefore, Joint hypermobility syndrome might be used as marker for this anxiety phenotype in youngsters.
In other words, if a child HAS anxiety issues and behavioral issues, someone should ask about joint pain and check for “stretchy skin.” These problems may underlie a Joint hypermobility syndrome.
While this is the first study to explore anxiety issues in children, a 2011 study in the International journal of psychiatry in medicine (2) from University Autonomous of Barcelona found that Joint Hypermobility Syndrome is a frequent condition among young people (university age students) evaluated and is associated with psychological distress and higher levels of somatosensory amplification (heightened sense of pain and pain awareness).
Can’t keep up with friends is depressing
An August 2019 study in the Journal of child health care (3) reinforced the message among doctors that anxiety and depression are symptoms of Hypermobile Ehlers-Danlos syndrome.
Thirty-four children with Hypermobile Ehlers-Danlos Syndrome reported the hardest thing about having Hypermobile Ehlers-Danlos Syndrome, their pain, fatigue, physical symptoms, functional disability, anxiety, and depression.
Physical symptoms (pain and fatigue) and limitations (keeping up with friends) were reported as the most difficult parts of having Hypermobile Ehlers-Danlos Syndrome.
A higher number of somatic symptoms was the strongest predictor of disability, anxiety, and depression. Physical symptoms are subjectively distressing and significantly related to impairments in physical and psychological functioning.
Many are told there are no treatments, only prevention of worsening problems
As pointed out in the publication Ehlers Danlos Syndrome (4) from the National Center for Biotechnology Information, “with hypermobile joints comes the increased risk of joint subluxation and dislocation. Prevention is the most crucial aspect of medical management as each injury increases the likelihood of recurrence and complications such as osteoarthritis. Prevention revolves around robust patient counseling regarding the limitation of at-risk activities like contact sports or weightlifting.” Further, “It’s also important for the patient to understand that there is no cure for the disease, and as of now, there is no medical treatment that can completely resolve their symptoms. This fact may be difficult for many patients to internalize and accept, which is why psychosocial support, including expectation management, for patients suffering from EDS is paramount in their care.”
In 2011, after seeing many patients with what was then coined “Joint Hypermobility Syndrome,” I suggested in the Journal of Prolotherapy: (5)
Management of Joint hypermobility syndrome (JHS) and Ehlers-Danlos Syndrome (EDS) frequently includes education and lifestyle advice, manual therapy, taping and bracing, electrotherapy, exercise prescription, functional rehabilitation and collaborative working with a range of medical, health and fitness professionals. Progress is often slow and hampered by physical and emotional setbacks. The functional rehabilitation process is frequently lengthy, with education of the patient and family, sensitively prescribed and monitored physical therapy interventions and facilitation of lifestyle and behavior modifications being the mainstay of the plan.
Treatments that are not helping
If you are reading this article, you are probably a parent who has read, read, and read some more about what is going on in your child or children. You may have become more frightened by the confusion of what you are reading. One of the confusions you may have is why isn’t physical therapy helpful? The goal of this article will be to make you less frightened by showing research and patient outcomes.
In our case histories we have many stories. Some about children who came to us with a long prescription list. One story is that of a girl who between the ages of 6 and 12 was very active in gymnastics. She had to stop gymnastics when her right hip became painful and, despite lots of therapies and doctors, developed into a constant throbbing pain. Her list of previous therapies to resolve this pain included: physical therapy, prescription medications, deep tissue massage, nerve blocks, acupuncture and Feldenkrais,an alternative type exercise program. Her pain medication grew to include Zoloft, Tylenol #3, Prozac, Clonazepam, Effexor and Soma. Despite all this she reported increasingly terrible pain. We first saw this patient when she turned 18, so the treatments reported here were ongoing for 6 years. This patient visited us regularly for Prolotherapy treatments for the next two years. She was slowly weaned off of all of her medications. The treatments are explained below.
When physical therapy is not helping
This is a November 2018 study that appeared in the Journal of foot and ankle research. (6) The study examined why targeted physical therapy to the knees and ankles seemed to offer no extra benefit.
This is what the researchers at the University of Newcastle in Australia said: “There is very limited evidence to guide the use of physical and mechanical therapies for lower limb problems in children with Hypermobility Spectrum Disorder and Hypermobile Ehlers Danlos Syndrome. Mechanical therapies have not been evaluated in randomized control trials and results of the two randomized control trials of physical therapies do not definitively guide physical therapy prescriptions. Current studies are limited by small sample sizes and high attrition rates. No physical therapy has been compared to a sham intervention no intervention or no intervention, so overall effectiveness is unknown.”
“Physical therapy prescription, regardless of joint range or type of exercise, may provide benefit in regard to pain intensity, however this has not been adequately established by available research.”
This is something we hear from many parents on their first visit in. Their child suffered a significant ankle sprain. After 8 weeks and many physical therapy sessions, the ankle has not shown much improvement. Why? To understand how physical therapy can be made more effective we must understand why physical therapy is not effective.
Physical therapy is a major component of the “conservative” or “multidisciplinary” approach to joint pain relief. Our experience, in the patients we see, that the results of PT are often disappointing.
Who are the patients who would not benefit from physical therapy? Patients with loose ligaments and tendons.
In the above study, the knee and ankle were examined in patients that targeted physical therapy did not provided additional benefits. So let’s discuss the knee. We often see children with dislocating knee caps or patellas.
- Physical therapy includes leg extensions and stretching exercises to help strengthen the thigh muscle, so the patella or kneecap, tracks better on the femur – it doesn’t scrape the thigh bone.
- Physical therapy seeks to strengthen the quadriceps as these muscles are the main stabilizers of your kneecap. Physical therapy will have limited or no success if the quadriceps tendon, the tendon that connects the “quads,” the vastus lateralis, vastus medialis, vastus intermedius, and the rectus femoris muscles to the knee cap are weakened.
- For physical therapy to work, there must be some resistance between muscle and bone. If the quadriceps tendon is damaged, injured, stretched, or harmed in a significant way, physical therapy will have limited if no success.
- Physical therapy will also not work if the ligaments of the knee are compromised or weakened. Ligaments, such as the ACL. MCL, PCL hold the knee together by connecting the bones.
- Muscle-strengthening exercises may improve the relative location of the patella upon movement, but do not improve the tendons, ligaments, or cartilage.
In returning to my 2011 paper (2) I suggested in the Journal of Prolotherapy:
Conservative treatments such as physiotherapy can help hypermobile patients by the use of mobilizing techniques to restore subluxations; enhance general fitness to offset or reverse the tendency for the body to lose condition by lack of exercise; core and joint stabilizing and proprioception (awareness of proper movement) enhancing exercises to decrease pain and prevent further injuries.
However, a joint complaints increase with vigorous and repetitive activities, hypermobile patients learn that overtraining and exercises that focus on joint flexibility rather than stabilization increase joint pain and risk of injury, thus, they need to be stopped or reduced.
Joint stabilization rather than joint flexibility – Prolotherapy treatments
The lack of long-lasting relief in any of these traditional treatments provides a grim prognosis for anyone living with the chronic disabling pain of Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome. The common flaw in each of these traditional treatments is their inability to repair the weakened connective tissues causing the hypermobility. Logically, then the best approach would be the one that directly addresses the root of the disability, weakened connective tissues, such as ligaments and joint capsules, by inducing their repair to stabilize the affected joints.
The main talking point of our treatments are that Hypermobility Spectrum Disorder and Hypermobile Ehlers Danlos Syndrome patients have joint pain, joint instability, and chronic joint dislocations from ligament laxity. This is well understood in the medical community. What is not well understood is that injecting simple dextrose into the ligaments and tendon attachments in the joint and spine would strengthen the ligaments and tendons.
In Hypermobile Ehlers Danlos Syndrome, the discussion often turns towards collagen. Hypermobile Ehlers Danlos Syndrome is caused by defects in the biogenesis of collagen, the major structural protein of the body. The condition can be either inherited from a parent with the defect or caused by a genetic mutation. When a defect such as the one found in Ehlers Danlos Syndrome is present, collagen fibers weaken, allowing tissues to become more elastic. In the case of Hypermobile Ehlers Danlos Syndrome, the weakened collagen fibers affect the integrity of ligaments in the joints and ultimately the stability of the joint. The weakness of these ligaments is what allows the joints to hyperextend beyond the normal physiological limits and eventually become unstable.
Hypermobility in any body part (or systemically in all body parts) in and of itself is not a problem; as a matter of fact, it has some benefits. The greater agility that whole-body hypermobility offers allows the person to perform a number of physical activities with greater ease including ballet dancing, gymnastics and acrobatics, and musical talents such as playing the flute, piano and violin.
The genetic disorders that make up systemic joint hypermobility syndromes and disorders are caused by a defect in the structural integrity of their collagen. Simply put, their collagen is weak.
Connecting ligament weakness with chronic pain from joint instability in Hypermobile Ehlers Danlos Syndrome
Pain and instability in a joint is caused by the joint hyperextending beyond the “stretchability” range of the ligaments that holds the joint together. People who start with joint hypermobility or Hypermobile Ehlers Danlos Syndrome have ligaments that have already been genetically weakened. This puts them at elevated risk for developing joint instability. It takes less force to injure a ligament or cause joint instability in these patients.
When the ligaments can no longer hold the adjacent bones in a stable position, the person experiences pain, and other joint stabilizers and adjacent joints are more prone to being injured. It is for this reason especially that people with genetic hypermobility syndromes should receive Prolotherapy (or least get an evaluation by a Prolotherapist) sooner rather than later for ligament injuries. It does not take very long for one simple ligament injury to start a cascade that results in multiple joints becoming unstable.
We believe Prolotherapy offers great hope to those with symptoms of hypermobility because it is designed to successfully treat the ligament and tendon laxity that accompanies Ehlers-Danlos Syndrome and Joint Hypermobility Syndrome, as well as strengthen the joints in the body.
If we take splints and braces, heat therapy, and physical therapy treatments at face value we find a group of treatments that seek to stabilize a painful joint (hold it together with splints and braces), bring circulation to the joint, (heat therapy), stresses movement (physical therapy) to build up strength in the joint. These are all part of the therapeutic properties of Prolotherapy injections.
Our research Prolotherapy and Ehlers-Danlos Syndrome (hEDS) and Joint Hypermobility Syndrome (Hypermobility Spectrum Disorders (HSD)).
Above we cited this research in the Journal of Prolotherapy in 2011.
Here are our bullet points:
- While traditional medical treatments including education and lifestyle advice, behavior modification, physiotherapy, taping and bracing, exercise prescription, functional rehabilitation and pain medications offer some symptomatic control, they do little in regard to curbing the progressive debilitating nature of the diseases.
- The excessive joint mobility with its subsequent joint degeneration and multiple joint dislocations, can then lead the individual to seek out surgical intervention, which has suboptimal results in the hypermobile patient population versus the normal population. As such, some patients with Ehlers-Danlos Syndrome (hEDS) and Joint Hypermobility Syndrome (HSD) are seeking alternative treatments for their pain, including Prolotherapy.
- Prolotherapy offers great hope for those with symptoms from generalized hypermobility because it is designed to successfully treat the ligament and tissue laxity that accompanies Ehlers-Danlos Syndrome and Joint Hypermobility Syndrome.
- Prolotherapy works by initiating a brief inflammatory response, which causes a reparative cascade to generate new collagen and extra cellular matrix giving connective tissue strength and ability to handle strain and force.
- Prolotherapy has a long history of success treating ligament injuries, including patients with joint hypermobility.
- Studies on Prolotherapy have shown that it eliminates chronic pain even in those patients who have been told by their medical doctor(s) that surgery was the only treatment option for their pain.
Some of the rationale for using Prolotherapy for patients with Ehlers-Danlos Syndrome and Joint Hypermobility Syndrome include that it has:
- a high safety record, is comprehensive (all or most joints can be treated at each visit),
- is an outpatient procedure,
- is cost effective (compared to surgery),
- pain relief is often quick,
- and it provides joint stabilization.
Perhaps its greatest asset is the fact that this one treatment modality can handle most of the painful musculoskeletal conditions that occur in individuals with Ehlers-Danlos Syndrome and Joint Hypermobility Syndrome.
A Patient Story
In the first video, mother Lorraine tells the story of her daughter Louise. The video transcript summary is presented below the video.
We did not recognize that there was anything wrong with Louise. She always enjoyed climbing on the climbing frame, she is very good at hanging from the monkey bars, so there is no clue as to what was to come. We knew she was flexible and she positively enjoyed gymnastics which she excelled at for obvious reasons.
It was only after one training session the coach came up to me and said Louise has just dislocated her shoulder but it’s OK it’s gone back in again.
I knew that wasn’t right. I asked Louise about it and he said, “Oh mommy, that happens all the time I just put it back in again.”
So I decided to take her to see a specialist and I explained this to him, he examined Louise and asked several questions. He pulled on her skin and then he asked me if I ever heard of Ehlers Danlos Syndrome? Of course I hadn’t. He explained what it was. That she would have joint hypermobility, stretchy skin, but not to worry it wasn’t too serious.
But as she began to grow she started to have more issues with her joints. She’s had numerous issues with her ankles, her knees, she regularly dislocates her thumbs particularly if she’s using scissors which scares the living daylights out of her friends at school.
She was beginning to lead a relatively normal life. We had to, everything couldn’t stop because she dislocated joints. Her friends learned to be careful and not to do any sudden moves because it was when she was not prepared for a move that something would happen. If she was engaged in a physical activity she was fine because she know what’s going to happen. Louise started playing musical instruments. She plays the piano, the saxophone and was she teaching herself how to play the ukulele.
Louise was leading a full life but with restrictions. Unfortunately she had to give up gymnastics because she couldn’t trust her body and she was beginning to have injury after injury.
By Christmas 2013, Louise was in a wheelchair. She tore a ligament in her foot and because of her weak shoulders she couldn’t use crutches. She was in the wheelchair for over 3 months. It was at this time we beginning to worry about her future and this was compounded when she dislocated her shoulder again, this time by pushing herself up from the floor from a seated position how is she going to manage in the future if she’s going to continually injure herself by doing the most mundane things.
We knew we had to do something but we didn’t know what to do. She was missing so much time from school with injuries to her shoulders, spine, and thumbs and she had repeated muscle spasms it couldn’t go on like this. Our only option would be to consider home schooling so that we would not miss more education.
It was around the same time I was looking at the Ehlers Danlos Facebook page when suddenly appearing in my newsfeed was a study: “Treatment of joint hypermobility syndrome including Ehlers Danlos Syndrome with Hackett Hamill Prolotherapy.”
I’ve never heard of this. So I went to the Journal page and I read the piece. I could not believe what I was reading. Here was a doctor who was treating patients with Ehlers Danlos Syndrome using injections of just for sugar solution including amazing results I hardly dare believe it could be true. I went to the caringmedical.com website and read even more about the treatment.
I started to get angry why did we not know about this treatment that could help so many people. It was clear that Dr. Hauser knew about Ehlers Danlos Syndrome as he’d been treating patients for over 20 years. I made up my mind then that Louise was going to Chicago and she was going to have Prolotherapy. Louise is finally able to enjoy her life. She has discovered aerial gymnastics, This was a chance for her to really enjoy her gymnastics in a more controlled and safe way.
If this article has helped you and you would like to explore Prolotherapy as a possible treatment option, ask for help and information from our specialists
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