Some Physical Therapy Perspectives on ‘Low Tone’and Kabuki Syndrome
I follow the Kabuki Network emails daily, even now, and respond when an issue comes up that I feel I can contribute to. I don't live near Nathan and only see him on vacations, and Nathan is the only child I know with Kabuki Syndrome. However, I've worked with many other children who have similar physical issues, particularly the low tone, which is very common even in children without syndromes, including Nathan's two sisters. Clearly Kabuki Syndrome is a spectrum, like autism and most other developmental problems, with some children having it very severely and some relatively mildly. Please keep in mind that your own therapists are the best source of information for your child. My article is meant only as a broad generality of the effects of low tone on the developing child and some assistive devices that can help.
It seems that most, if not all, children with Kabuki Syndrome have low tone. Low tone is usually associated with ligamentous laxity or joint hypermobility and generalized weakness. It is more difficult for children with low tone to progress with their motor skills, regardless of whether or not they have been diagnosed with a syndrome. They usually progress more slowly and not in the typical manner of other children. Because of weakness in the tummy muscles, they have more difficulty in lifting their legs to touch their knees, which should happen at about four months. Following that skill, they should begin to log roll to the side with their knees together. At about the same time they should be propping up on their elbows when on their tummies with elbows under their shoulders. By six months they should have their legs together, straight behind them and able to weight shift and roll. I’m going to assume that most, if not all, children with Kabuki have difficulty with this progression and either begin this process later than normal or get stuck with their legs in the frog position. They then progress to more advanced motor activities without ever doing them properly because their legs stayed in the frog position.
I made sure that my grandson Nathan began Physical Therapy as soon as possible as these early activities are really important as a basis for what comes later in motor skills. I have found Hip Helper Pants to be an inexpensive tool to help children with low tone achieve these basic but very important early skills and do them as appropriately as possible. They were not available when Nathan was a baby, therefore his therapist wrapped his legs in a figure eight with neoprene strapping. These pants are much easier. I use them with children who look like they are going to get stuck in that ‘frog’ position, and have even continued their use on children who were already walking but still needed them. You can view or order them at www.hiphelpers.com. They are very useful in helping children learn to use their muscles more correctly, to weight shift, to rotate, to get on their hands and knees, to sit with their legs in front of them, to move from one position to another with a variety of strategies, and ultimately to stand and walk with their legs and feet under their hips and not with their feet far apart. Typically, children with lower tone have trouble with shifting weight to one arm or leg in order to raise and use another. This motion requires the use of the abdominal musculature and rotation, both of which are difficult for kids with lower tone. They like to stay in the middle, which is easiest, and get out of the sitting position by going forward through the feet and into the sitting position (or ‘W’ sitting) by backing up from hands and knees. The pants help prevent them from doing it in this manner and instead help them learn to do it correctly.
This baby is having a difficult time learning to roll because she is not using her tummy muscles and can't keep her legs together.
The frog position, which blocks the development of typical movement progressions to rolling, weight shifting, etc.
This child with motor delays and low tone has been able to learn to weight shift almost into side prop and will go on to learn to push up into sitting , because with the hip helper pants on, his legs are no longer blocking the movement.
This child cannot get onto her hands and knees, or do the standard transition from hands and knees to side sit and then into sitting, but with the pants on she was able to do that and to learn to crawl.
Getting 'stuck' in the frog position will later lead to standing with the feet widely separated and turned out. This compounds the foot problems of ligamentous laxity and weakness and foot pronation associated with lower tone or low levels of stiffness.
With the feet widely separated, and the child never having learned to shift the weight to one leg to raise the other, balance on one foot is impossible and stepping forward is very difficult. This child's feet are pretty good, structurally, but she has a lot of trouble getting them under her.
It's hard for her to pick up one leg to take a step. She will be falling toward the upsupported side until she gets that left foot down. Notice how she is tightly clenching her arms and hands. That helps her increase her tone or 'level of stiffness'. She will have to learn not to do that as she gets more control and balance. She should still be wearing the Hip Helpers for walking or what would even be better, and allow a more normal step, would be Theratogs, to help her learn to keep her legs together and aiming forward.
Sensory defensiveness is a common problem among children with Kabuki syndrome. It can be of varying degrees of severity. Sensory defensiveness and aversion to light touch can keep children from wanting to move around and experience touch in new parts of their body. This reluctance to move will, of course, hinder their ability to learn new skills. Therapists should be able to make suggestions as to how to help the child tolerate touch and to desensitize them, depending on the child's level of defensiveness. Therapy and time will hopefully alleviate some of the sensory defensiveness but it can continue to cause significant problems. Nathan was, and to a lesser degree still is, defensive to touch and sound, sometimes resulting in complete melt-downs.
When my grandson was first placed in the standing position, he was practically standing on his inside ankle bones. Not only did his arch collapse causing ‘flat foot’, but the heel bone tipped in at the top, shifting the whole ankle complex inward. This is not good for the feet, ankles, knees, back, or balance. Fortunately for Nathan, I had taken a course from Beverly Cusick PT, MS, COF, who operates out of www.gaitways.com and teaches wonderful courses on pediatric orthopedics, feet, gait and how to make splints and orthotics. I made Nathan orthotics (modified SMO’s) out of splinting material and they were very successful when he was small and I've used this style of 'splint' with many infants and toddlers when they are ready to begin standing.
Among other options, some of which we used later as well, are off-the-shelf orthotics from www.surestep.net and from Cascade orthotics at www.dafo.com. Jumpstart orthotics, from Cascade products, are off-the-shelf and come in a lower cut and an ankle-high version (also known as a supramalleolar orthotic – SMO). I imagine most of our children would need the SMO, a custom fitted SMO, or the higher version that comes to just below the knee. Many local orthotists make fine products that serve well also. But Cascade products are hard to beat if they are available through a local orthotist. Well fitting and properly aligned orthotics help the child keep the feet as well as the whole leg aligned properly under the body so the best possible balance and posture can develop. The correct orthotic will encourage the correct muscles to work during standing and walking, so those muscles will strengthen and learn to work together as they should. Athletes use them for maximum performance if they didn't happen to be endowed with perfect foot biomechanics. I remind the older kids of this fact if they start to object to them.
Following are some pictures of Nathan's feet in 2003 when he was six years old - with and without his Cascade product UCB's.
See (above) how his achilles tendons angle out at his heels. He has developed arches in his feet, possibly from wearing the contoured orthotics for so long, but his whole ankle complex is still shifted inward. The orthotic partially, but not completely, corrects it. Ideally, it would be good for a vertical line to be drawn up the back of the leg from the bottom of the heel to the knee. These angles will change some in normal children and at different stages of development, but it is a nice goal to aim for.
In 2009 Nathan is still wearing orthotics (Cascade Pollywogs) but his feet have improved enough that he can self correct his foot alignment to near perfect (above). He just can't keep them that way when he is not thinking about it. The Pollywogs don't really provide enough support but are an acceptable compromise. Good supportive running shoes make the pollywogs more effective.
Theratogs, which were invented by Beverly Cusick, can be found at www.theratogs.com. Theratogs have only been in common use for 5-6 years. Before that, children like my grandson had tape applied directly to their bodies to encourage the correct muscle use for better posture and activities. The Theratog, which is individually designed and fitted to correct each child’s postural and alignment issues, consists of a tank top, ‘hipsters’ and ankle straps to which elastic strapping is attached, rather than tape directly on the skin. Over time, like wearing the foot orthotic, the theratog can help the child learn better posture and movement patterns by the simple practice of repeating the correct movements and by using them, strengthening muscles that need to be strengthened. In kids with lower tone, the abdominals are usually not active enough to give good postural support and would have strapping on them, and if the child was standing and walking with the feet apart and legs turned out, theratogs would be a good option to help correct that, along with regular therapy.
Theratogs should be able to get Nathan's abdominal muscles more active and discourage him from locking and hyperextending his knees. 'From the side, good alignment would mean that a line drawn vertically would pass through his ankle bones, the center of his knees and the center of his hips and shoulders. His existing posture puts a great deal of strain on his low back and knees, as well as his ankles.
Please check out these web sites and continue to share any others that you find to be valuable. Many of your own children's therapists will have ideas and tricks that may be helpful.