Melanie Cole, MS (Host): Welcome. Our topic today is arthrogryposis. My guests are Dr. Haluk Altiok—he’s an orthopedic surgeon at Shriners Hospitals for Children Chicago—and Dr. Sue Mukherjee—she’s a board certified pediatric physical medicine and rehabilitation physician physiatrist at Shriners Hospitals for Children Chicago. Welcome to the show doctors. So, Dr. Altiok, id like to start with you. What is arthrogryposis?

Haluk Altiok, M.D. (Guest): Arthrogryposis is a term we use to describe the condition of the extremities which are usually stiff and contracted. So, it’s just a term to describe the condition and it could be present in many disorders—over 300 to 400 genetically proven disorders. So, it’s a statement to describe the patient’s condition involving both upper and lower extremities.

Melanie: Do we know what causes it Dr. Altiok?

Dr. Altiok: There are certainly some cases where we have genetic evidence and we have a name for the disease, but sometimes all we can say is that the patient is arthrogryposis even though that doesn’t mean that there’s an arthrogryposis disease. It just describes the condition of them. So yes, to your question, we have answers to many of the underlying problems but many we do not.

Melanie: Dr. Mukherjee, when is this condition diagnosed? Is it something that would be noticed in utero? When is it diagnosed?

Sue Mukherjee, M.D., FRCPC (Guest): It’s often something that we see at birth. So, we will see limbs that have taken a contracted condition. Babies in utero often are in certain position and sometimes there are clues that the muscles and bones and joints are not developing normally. Sometimes we don’t know about it until the child is born and we see that the range of motion for the limbs is restricted. I’d like to add to Dr. Altiok’s comments that there can be a number of different reasons for why the range of motion of these joints is restricted. Sometimes it’s a nerve or muscle issue with the newborn, and sometimes it’s a restriction of movement due to the shape of the uterus, for example, or some other reason why the infant cannot move fully in utero.

Melanie: Dr. Mukherjee, as complex conditions such as this can affect the child’s bones and muscles and joints, but other parts can be affected as well. Speak about how Shriners treats the whole child and helps them adapt to their situation, and even including the family.

Dr. Mukherjee: Here at Shriners we have an interdisciplinary team of physicians, therapists, and nurses who work together on goals to achieve the child’s maximal integration into both the home as well as into community activities such as school. So, we focus on the individual movements of certain joints, such as in the hand of in the foot or in the hips or other joints, and we make sure that they not only improve those smaller movements, but they can incorporate those movements into larger functional activities such as feeding or dressing. Then using those functional activities into larger integrated activities such as going to school and participating in play with other children, which is the ultimate goal.

Melanie: Dr. Altiok, what are some of the questions that parents ask you regarding treatment options? When they find out that this is the situation, what do you hear from parents?

Dr. Altiok: It is a complex problem so most of the time number one wish from the family is to see their child to walk. As time goes on though, we all realize that the ultimate goal should be their individual independence when they get older. So, our goals and the way we approach that changes over the time period. So, we tend to educate the family when we meet the first time and we try to answer their concerns and questions. We try to come up with a plan that both families, and as a physician, we both stick to it and work together towards that goal. So, it takes time, but it’s a very rewarding practice. We enjoy the successes of their children and what they do and how they function together.

Melanie: Dr. Mukherjee, let’s speak about some of the non-surgical treatment options available. Speak about intensive outpatient or that you already mentioned about the multidisciplinary approach, but what does rehab look like for these children?

Dr. Mukherjee: It really depends on the child. So, a child with arthrogryposis can look very different with another child with the same named condition. So, the strategies we use to try to maximize their function may be different. So, part of it depends on what the goals are that we’re trying to achieve. Whether it’s something with regards to opening their mouth to achieve the feeding or some other activities. Or opening their hands so that they can use their hand more functionally. We will use a combination of strategies, both things like strengthening and stretching as well as electrical stimulation in muscles that can be stimulated to try to grow those. Sometimes casting to improve position and joint range of motion. Then a lot of it is based on function-based movement practice, which may include a swimming pool or other activity-based movements such as a treadmill or an electrical stimulation bike sometimes or other activities that help to move the joints in other ways.

Melanie: Dr. Altiok, now surgical and clinical care for arthrogryposis. What are some surgeries that patients might need and when does that discussion come into play?

Dr. Altiok: Kids with arthrogryposis usually present with multi-joint problems such as hip dislocation, knee flexion contractures, or foot and ankle problems such as clubbed feet. It tends to affect the conversation immediately and we tend to work on these aggressively as we know that the more we get their alignment into a better position, they can use the brace and they can actually participate in different stages of their rehab better. So, the conversation starts early on, but the first year we tend to be more conservative and we focus heavily on the rehab to make sure that we get their motions back as much as we can. At the end, many kids with arthrogryposis end up having many surgeries in regards to their feet, knees, and hips and sometimes to their spine.

Melanie: Dr. Mukherjee, where does that fit into the rehab picture? As Dr. Altiok has said, these surgeries work in combination with the rehab and sometimes rehab goes first. What happens if they do have a surgery? How do you include occupational therapy, the splints and casts, physical therapy? How does that all work together?

Dr. Mukherjee: Both before and after surgery, the therapy is an important aspect. One is preparing the child for surgery so that the muscles are optimized including nutrition and things like that. After surgery, we want to rebuild muscles and teach the child to move in new functional ways. So sometimes children learn patterns of movement based on the range of motion that they have. When they have a new range of motion and the joint is in a more optimal position, we may have to work with them to retrain them on how to move. So, the combination of the different therapists focusing on different functional tasks that they're going to practice on a daily basis becomes very important before they go home so that they learn to move in more, ideally more efficient ways in that improved position so that we can maintain it.

Melanie: Dr. Altiok, what is the outlook for these children if this is something that you spot early on in childhood or even right after birth? What does life look for them as teenagers and even on into their lives?

Dr. Altiok: They are born with many challenges, but they live up to their challenges. Many kids, many, many kids as they walk into their adulthood lives, they become successful independent individuals. We actually looked into an umber of adult patients who were treated in our hospital after a long period of time. We were able to kind of asses their wellbeing and their outlook into life. They actually did fare extremely well. They had some musculoskeletal issues, such as some joint stiffness and pain, but their occupation, their education, and their wellbeing was at par with the rest of the general population. So, the outlook is extremely well, especially if their treatment is well coordinated with rehab and timely surgeries.

Melanie: Dr. Mukherjee, your hospital hosted a family education day recently. Tell us about that.

Dr. Mukherjee: Yeah. We had a wonderful day with a number of different people including myself, Dr. Altiok, and Dr. Fishman—who is a hand surgeon here at Chicago Shriners. Together we presented different options from a rehab and surgical standpoint. As well as several other interdisciplinary presenters from a nutritional standpoint from psychology from OT and PT. Looking at equipment and braces and lots of different options. We also had a bit of a vendor fair and a show and tell area where families could explore other resources that were available, both in terms of adaptive sports and adaptive activities. Some games to play and some things to entertain the kids. It was really nice to hear from the interdisciplinary team as well as family members or people who have arthrogryposis at different stages. Both parents of younger children as well as adults with arthrogryposis who were able to present on their firsthand experience having had the lived experience with the condition and the different ways they met the different challenges. And how important peer interaction is to help them problem solve and to help them to find peer mentorship to help answer some of the questions that are difficult for us to answer as clinicians.

Melanie: Before I ask Dr. Altiok to wrap up this segment for us, and it’s been such great information, Dr. Mukherjee, you mentioned nutrition twice. You’ve spoken about the multidisciplinary care, and then you even mentioned the psychology and the psychosocial aspect of arthrogryposis. Please, just for a minute, go over why nutrition and the psychosocial aspect of this condition are something that are included in that multidisciplinary care and rehab.

Dr. Mukherjee: So, the team has a number of different goals. As mentioned, some of the goals are to ensure that children are moving certain joints well and able to incorporate those things into different activities. The psychologists can look at barriers with regards to are their issues with the child’s mental health or wellbeing, or the family’s mental health or wellbeing to allow them to fully participate and continue the therapies, both in the home setting as well as into the community.

Nutrition is important partly to make sure the children are equipped nutritionally to heal well from surgeries as well as to make sure they have vital building blocks, such as vitamin D and calcium, to build back bones. To make sure their have enough protein nutrition and have enough hemoglobin to make sure that they are well equipped to heal from surgical procedures as well as to maximize their impact from rehab. So, we all work very closely together to ensure that all the pieces are in place so that the child can achieve the maximum benefit from their rehabilitation surgical care.

Melanie: What a good point. So, Dr. Altiok, last word to you. Please wrap this us for us with the best information. The questions parents ask, the things that they would like to know about arthrogryposis, and what you tell them about treatment options available and the outlook for children.

Dr. Altiok: What I would say that we work here as a team and we will always be with them and walk the line with them. So, their kids with arthrogryposis present very complex challenges, but orthopedic surgery, rehab, and many other subspecialties have answers to many of these challenges. Even though there could be some hardship along the way, I do believe we will make sure that kids with arthrogryposis reach the adulthood as being successful and educated individuals that can take care of themselves in the future. So, we are there for them and the secret is to work together and to understand the problem and to make a good plan to achieve those goals with timely based rehab and surgery.

Melanie: Thank you both so much for joining us. This is pediatric specialty care spotlight with Shriners Hospitals for Children Chicago. For more information, please visit shrinerschicago.org. That’s shrinerschicago.org. This is Melanie Cole. Thanks so much for listening.