Why Early Diagnosis of Vestibular Abnormalities is Important
July 8, 2009
By Mark Dunning
One of the neglected aspects of Usher syndrome are the balance issues associated with Usher syndrome type 1. These are forgotten because 1) vestibular abnormalities are not associated in all types of Usher and 2) compared to the other symptoms of Usher syndrome (hearing loss/retinitis pigmentosa), balance on the surface is a relatively benign problem. These kids might be late to sit up and late to walk, but they do sit up and they do walk eventually. But early identification of Usher syndrome as the cause of balance issues is important for a number of reasons.
Physical Therapy
There are three anatomical systems that contribute to balance. The first, as we've discussed, is the vestibular system which is a collection of canals in the inner ear that we use to interpret linear and rotational movements. These are also the things that make us nauseas when shaken up. Second is vision. We use our eyes to tell us what is up. You don't stub your toe more often in the dark simply because you can't see. You also stub your toe more often because you are having difficulty maintaining your balance, so you're widening your base and staggering slightly.
The third is muscle strength. Your muscles are ultimately what hold you upright. Vision and vestibular function simply help you interpret the right position to hold your body for the best balance. Think of leaning way forward or way to the side. Eventually you fall over. Now think of gymnasts. They can hold themselves in gravity defying positions because of they have the strength and flexibility to do so. The reason kids with vestibular abnormalities eventually are able to walk is because they eventually develop the muscle strength to offset the lack of vestibular function.
Physical therapy, hippo therapy, and yoga (among other activities) can help kids with vestibular abnormalities develop the strength and flexibility to participate in just about any activity. For instance, many Usher type I kids eventually learn to ride a bike. It can be nerve racking for parents, but they do it. So once again here's an argument for early diagnosis. Kids are most successful when they get therapy to develop muscle strength at a young age. It's simple really. The earlier they develop the strength to walk, the earlier they walk.
The Bigger They Are, The Harder They Fall
Children normally learn to walk somewhere around one to one and half years of age. For a child with the vestibular issues associated with Usher syndrome, it is not uncommon for the child to walk a full year later than that. That's another year of tottering and stumbling and crashing and general unsteadiness. It's also another year of growth. A two and a half year old child is, on average, 25% heavier than a one and a half year old child and nearly a half a foot taller. The adage 'the bigger they are, the harder they fall' has some truth to it. When these kids take a tumble, and they do it a lot, they are at greater risk of injuring themselves simply because they are falling farther with more weight and doing so for a longer period of time. Parents should be aware of the safety risks associated with the vestibular abnormality so they can compensate appropriately. Again, the earlier they know, the better.
Elimination of Other Diagnoses
We talked about this in our post about why early diagnosis is important to physicians, but it's important to physical therapists and early intervention staff as well. A child might walk late for a lot of different reasons and those reasons influence the exercises a physical therapist recommends. Without an Usher diagnosis, physical therapists don't know where to begin. They only learn the right approach through trial and error. They can focus on the best exercises for improving core strength if they get an Usher diagnosis early.
The Psychological Impact on Families
This is probably the most important reason why early diagnosis of the vestibular abnormalities of Usher is important. We have discussed previously the psychological impact of a hearing loss diagnosis on parents. That is part of this as well.
An infant is an empty vessel. That moment of birth is profound for a lot of reasons, not the least of which is the potential with which a child is born. You could be holding Ghandi in your arms, or Babe Ruth or Einstein or Mozart. Now the chances of it being true are slim, there's only been one Mozart, after all, but for those few moments, those precious few weeks and months, your child can truly accomplish anything.
Now most of us find out our child is not destined to be Mozart when he or she begins to slaughter the clarinet in fifth grade band. But by then he or she has demonstrated other strengths. He's good at math or soccer or she's good at art or writing. It's OK that they stink at music.
But for a parent of a newborn child identified through the newborn hearing screen, that reality slams home at an unwelcomed time and at an unwelcomed pace. Before you change your first diaper, you know your kid is not destined to be Mozart. Before your child can smile, laugh, or even recognize you, before they are much of anything at all, you are already keenly aware of what they can't be.
So we as parents start grasping. We start looking for any progress, any sign that our child is like the other kids. We no longer crave greatness. We crave normalcy. And when your kid laughs for the first time, it's rapture. When your child screams with recognition when you walk in a room, you dance with joy. And when your child takes his or her first step...
And there is the problem with Usher syndrome. Parents of children with Usher syndrome often talk about the other shoe dropping when they learn of the vision problems. The truth is, though, that vision loss is the third shoe. The second shoe is being late to walk and it can be every bit as frustrating for parents and for the child as being late to talk.
The worst part about the Usher syndrome diagnosis is not knowing what the future holds. Parents don't know what to expect. Will I be able to communicate with my child? Will my child speak? Will my child sign? Will my child lose his or her vision? Just as difficult in those early years is 'will my child ever walk?' That is a real concern for parents of children with undiagnosed Usher syndrome that are late to walk. All the other kids your child's age are walking. Why isn't your child? What is wrong? Will he or she ever walk?
Early diagnosis of Usher syndrome can remove that concern from parents. Yes, your child will walk. They may walk late, but they will walk.
I know I owe a post on Why early diagnosis is important to funding organizations. It's coming, but this was important, too.
