Muscles and Joints

Part 1: Prevalent issues in infancy and early childhood

One of the first issues we noticed with our daughter was a condition called torticollis. A muscle called the sternocliedomastoid, which connects her skull to her sturnum or breast bone, was so tight she couldn't keep her head at the midline. remember getting her pictures taken at ! months old and the photographer was frustrated that she'd only lay her head to one side. "ith persistent stretching and guidance from her pediatrician, we managed to lengthen the muscle to the proper position. #ou wouldn't know she had the muscle contracture e$cept she has some asymmetrical facial features from it. %uscular torticollis is a type of muscular contracture, or muscle tightening, that is common at birth for many children in the general population. &here are many other types of muscle and bone abnormalities that are very common for children and adults with "illiams 'yndrome. "' families, like ours, eventually discover that proper guidance from a physical therapist and close attention to the tone of the muscles in the body are important precautions to maintain proper posture and movement of an individual with "'. &his section discusses the common issues of the muscles and bones related to "' and what you can do to help your child overcome them.

"hat is all this talk about tone(

magine you are walking outside on a cold fall day and a strong gust of wind blows, throwing you a little off balance. )o you fall( %ost likely not. &he reaction that your body has, of read*usting your muscles to maintain your balance, is due to your muscle tone. %uscle tone has nothing to do with being

strong. t has to do with the way the nervous system *udges where your body is in space and reacts when a force is placed on the body +like the force of the wind blowing,. &one is also important when your muscle is stretched or when your body changes directions. &one is the way your body protects your muscles from over stretching when they are rela$ed or when they are pulled by movements such as twisting or lunging. #our muscles have an acceptable range of contraction and rela$ation. f they rela$ too much, they may stretch too far. f they contract too much it can lead to painful and debilitating muscle deformities. &one is basically the monitoring system in the muscle, governed by the nervous system, that maintains your balance, posture and protects your muscles during movement.

'o why does it feel like 'm holding limp spaghetti when carry my baby around(
-ighty percent of babies who have "' have very low tone in the central core muscles of their bodies up until late childhood. .ypotonia or low tone means that children with "' do not react /uickly enough to forces that throw them out of balance. &he nervous system doesn't communicate with the muscle properly to maintain a contraction for long enough. 0asically, the muscle rela$es before it should and is often stretched beyond a normal limit. &he cause of hypotonia can lie in the nervous system pathways. #our nervous system relies on receiving sensory information from the environment. 'ometimes children have a deficiency in the sensory input being received by the brain. &he brain doesn't receive the messages about where their body is in the environment +related to balance or force being put on the body,. &he problem may also lie in the motor response. &he brain may process the sensory information but then has an issue talking to the muscles and directing the proper response. "hat you get, then, are muscles that appear floppy or soft. n

fact, this condition is often called 1floppy baby syndrome1. 0abies with hypotonia will have a hard time gaining head control, won't put pressure on their feet to stand and will often lay with their limbs to the side. "hen a baby is born, an apgar score will be assigned to them to rate their health. One of the conditions in an apgar score is the baby's tone, *udged as in the following picture. As the child ages, they will often "2sit +see below, because the muscles in their core are not toned enough to support their posture.

A child who is hypotonic will most often develop late. &herapy is the best method to help the child overcome hypotonia. Physical therapy will help the child coordinate large or gross muscle movements such as pushing up, rolling over, sitting, crawling, walking, climbing, etc. Occupational therapy deals with fine muscle movements like using the pincher grasp to self feed, holding a pencil, manipulating an ob*ect into a hole, etc. 0oth of these types of activities are affected by hypotonia. 'peech and feeding can also be affected by tone. &he muscles in the mouth, vocal cords and *aw need to have proper coordination with the nervous system to chew, suck, swallow and speak. &herefore, many children with "' receive speech therapy, some far before they ever talk. 3hildren may also need to see orthopedic surgeons to monitor their tone. &hey

may need some orthodics such as shoe inserts or braces on the legs to improve posture and gait. 4eference: http:55www.atotalapproach.com5docs5P&.pdf

0anning the "2sit

%any parents of children with hypotonia see the "2 sit fre/uently. 3hildren who "2sit usually have low tone, hypermobile *oints and trouble with balance. 6ike mentioned above, it helps a child with low tone anchor their body and relieve the muscle e$ertion placed on the core muscles in the trunk of the body. t also allows them to get close to toys and books. &he problem with this position is that it limits the body's ability to turn and twist in order to reach across the body for a toy. &hese comple$ movements develop a child's ability to balance, navigate outside on a variable surface and use the brain in a different way2 by crossing across the body, the brain is challenged to think in a new way. &herefore, allowing a child to "2sit can ultimately affect their motor development later in life. nterestingly enough, it can also influence the child's hand preference. f the child isn't crossing the body to reach for toys due to the "2sit, often they will not develop the skill of working through movements across the body, effecting hand preference. f they want something from the left, they use their left hand. 7eed something from the right( &hey use their right hand. &his can ultimately affect their writing abilities. "2sit can also affect the the health of their hips later in life. t can lead to hip dislocation and hip dysplasia +improper fit of the leg bone or femur into the hip8 causes arthritis,. t can cause sway back +coming soon in Part ! of this page,, weak and tight muscles in the lower back and hamstrings, and their feet may begin to turn in when walking.

&he test pediatricians do to check for hip dysplasia during infancy.

"hy is my child so fle$ible(

%ore common than hypertonia, individuals with "' also have a musculoskeletal issue that is called *oint hypermobility. 3ommonly called double *ointed, this condition is when some *oints, especially those in the hips, knees, fingers and elbows, move at angles that are beyond a typical range. #ou can find many people in the general population with hypermobility. 'm sure the ma*ority of people have gawked at the kid on the playground folding his thumb backwards or twisting his arms in a knot behind his back. "hile hypermobility is found in about 1921:; of the general population, <9; of individuals with "' have this condition from infancy through childhood. &he reason our little ones are more likely to have this is due to the missing gene, -67 or elastin. &he cause is due to a variation in how the connective tissue is made in the *oint. &he reason hypermobility is so common in "' is due to the missing elastin gene. -lastin is a stretchy protein and it is an important component of the

connective tissues that support our *oints2 the tendons and ligaments. "hen the body builds a connective tissue, such as a tendon, it lays down a mesh work of fibers that acts like the foundation. &hen, the body builds on that matri$ to create the tissue itself. &his mesh work or matri$ is made of elastin and various other proteins. -lastin affects the tendon's overall structural make2up, effecting it's function as well. &endons and ligaments both have a common function. &hey wrap and support the *oint by connecting the bones that form the *oints to either another bone +ligaments, or to a muscle +tendons,. 0oth of these tissues are very strong2 if you've ever eaten a chicken wing and tried to eat the end of the drumstick that is very tough, you were chewing on a ligament. &he toughness makes it strong, but they are also stretchy so that your *oint can provide movement. &hat stretchy /uality is due to elastin. &he connective tissue that makes up the tendon is rooted inside the muscle itself. 3onnective tissue wraps up the muscle's fibers into bundles. &hat same connective tissue anchors to other bundles and merges together at the base of the muscle to form the tendon. &herefore, the structure of the tendon and its ability to stabili=e the *oint are related to the health of the muscle itself.

&his picture shows the muscle on the left and how its structure builds to form the tendon on the right.

Although hypermobility is not considered a condition that you should be too concerned about, it can increase the child's likelihood to become in*ured. )islocated *oints and sprains are more common in double *ointed individuals. &here isn't much in the way of treatments that you can do for hypermobility.

0ut, if you find your child has a particularly susceptible *oint, you can do some muscle strengthening to help build up some stability to the *oint. 6et's say for e$ample, that your child has a knee that they tend to in*ure or e$perience *oint pain in. &he knee *oint is stabili=ed by a series of tendons. &he knee is literally wrapped with several tendons that connect to the

muscles of the upper leg2 such as the /uadriceps. &hese muscles, when contracted pull on the tendons which then pull on the bone and cause movement. &he more fit the /uadriceps are, the more pull they e$ert on the tendon, even at rest. &his keeps the tendons tight around the knee, providing it with support, like an ace bandage would if you wrapped it around the *oint. A couple of notes about this condition2 Adults don't e$hibit hypermobility because people in general lose mobility in the *oints as we age. Also, medical professionals have found that there may be a genetic connection between hypermobility and scoliosis +curvature of the spine,, which is found in some children with "' who have larger deletions on their >th chromosome.

Part !: %uscle issues of late childhood and adulthood2 "hen things get tight
"hen most children with "' start their lives with the loose *oints and floppy muscles, it can take a parent by surprise when the muscles start to get tight. According to the pediatric guidelines, :9; of individuals with "' e$perience the e$cessive tone but other medical *ournals associate it with ?:; of adults. "ithout proper care, it can lead to some serious debilitating complications such as *oint deformities. According to leading "' e$perts, stretching and therapy to prevent high muscle tone is one of the most important preventive measures +besides cardiology appointments, that a parent can take to protect the health of their child.

"hat@s hypertonia(
6ike hypotonia or low tone, having high tone has more to do with miscommunication between the nervous system and the muscle. 4emember when we discussed low tone, the brain wasn@t feeding enough information to the muscle to keep it in a state of mild contraction. n high tone, the opposite happens. &he muscle receives information from the brain telling it to contract or tighten to a state where it becomes stiff. Over time the stiff muscle can become short and unable to stretch.

"hen we discussed hypotonia or low tone, we said that it was a measure of how the muscle stays slightly contracted when at rest. n hypertonia or high tone, it has more to do with how the muscle reacts when it@s at work. "hen an e$ternal force is placed on the muscle such as gravity from a hill, the body reacts with an e$cessive contraction than is needed. &his can lead to feelings of stiffness and tightness and can eventually lead to *oint limitations. %any people with hypertonia don@t reali=e there is an issue. t may or may not cause pain and discomfort and they may adapt their gait +the way they walk, to make the muscle use more comfortable or to gain better information about their surroundings. 'ome children and adults who have hypertonia have no symptoms e$cept for awkward gait. f they are not assessed by a physical therapist and undergo stretching, the hypertonia can lead to many issues such as painful muscle spasms and fi$ed *oints. .ypertonia can also be aggravated by cold weather, fatigue and multi2task activities. %any kids will complain of the painful muscles at bed time when they are most tired.

)eep &endon 4efle$es

4emember when you would go to the doctor for a physical and they would bring out the refle$ hammer to check your refle$es( &his simple test would alert a pediatrician or clinician of high or low tone in the muscles. "hen the doctor taps your tendon with the hammer, it causes the tendon to stretch and results in an involuntary movement or refle$. 4efle$es are controlled by your spinal cord or the base of your brain. nformation about the stretch in the tendon is picked up by a sensory receptor. &his sensory nerve delivers information to your central nervous system about a change in the environment. Anlike other reactions where you put some thought into your body@s reaction, the spinal cord is conditioned to send an immediate response to the muscles in the leg. &his causes the muscles to contract and your lower leg to kick.

n a patient with hypertonia, the movement would be e$aggerated due to the nervous system over responding to the force of the hammer. f the muscle has high tone, the muscle will overreact by making a vibrating motion called clonus. Alternately, low tone would result in a limited or lack of movement all together by the hammer@s force. Although most of us have only e$perienced this test on the knee, it can be performed on a variety of tendons including the elbow2 to test the biceps and triceps, and at the ankle to test the calf muscles.

&oe "alking2 &he most common sign of hypertonia

One of the most common first signs of hypertonia is toe walking. &oe walking is considered a very normal part of development in toddlers under the age of !. "hen a child is learning to walk, they often will stand on their toes as a way to e$plore this new motor activity. "hen toe walking becomes persistent and is seen after the age of B, then a physical therapist should evaluate the muscles and tendons of the leg. &oe walking after the age of B can be a sign of hypertonia and *oint contractures.

"hy do some kids with "' walk on their toes(

&here are a couple of reasons a child with "' may become a toe walker. 'ome children will start walking in this manner due to high tone in the gastrocnemius and5or soleus muscle, commonly known as the calf muscles. &he high tone of the calf makes the muscle shorter, pulling up on the Achilles tendon of the heel. Another reason toe walking can become prominent can be due to behaviors rather than a physical issue. 3alled idiopathic toe walking, some children will develop a habit where they walk in this manner. %ost children with idiopathic toe walking do so because of sensory processing disorders and some will fall on the autism spectrum.

Often children who e$hibit toe walking have a sensory processing disorder where they have trouble interpreting their surroundings in regards to balance. &he sense of balance is organi=ed by a portion of your inner ear called the vestibular apparatus. 'itting above the cochlea, or ChearingD portion of your ear, are a series of semi2circular canals. &hese canals are lined with tiny hairs that connect to nerve endings of the vestibular nerve. &he tiny hairs are bathed in fluid and are positioned vertically when you are upright. "hen the body moves, the hairs move with it and activate the nerve. &he vestibular nerve then tells your brain what position you are in space.

"hen you spin around /uickly, such as on a carnival ride, those hairs get turned in a variety of different ways and you get di==y. #our brain cannot interpret where you are in space causing you to walk uncoordinated and the feeling of confusion. &he di==iness lasts until the hairs reposition themselves allowing your body to understand how to coordinate your muscles. #our vestibular apparatus works with other parts of your body to gain information about your surroundings and send the proper message about balance. Earious places on the face such as the *aw, eyes and tongue talk to the vestibular apparatus as well as the soles of the feet, finger tips and palms of your hand. &he information from all these locations allows your brain to properly understand which way is up. Fids with vestibular processing disorders often need e$tra sensory information from those peripheral or outlying areas of the body to make sense of their environment. &hese children will often drag their hands along a wall or touch obstacles in order to gain more information for balance. People do this naturally when they lose their balance. #ou immediately find something to right yourself and provide some support. Fids with sensory processing disorders do this in situations where you wouldn@t normally need help with balance such as walking down a hallway. &oe walking is another adaptation a body makes to provide the vestibular apparatus with more information. "hen on your toes, more information will be delivered to the vestibular apparatus resulting in the body@s heightened ability to perceive the environment. Another reason for the vestibular dysfunction stems from inaccurate visual information. &he eye sends valuable information to the vestibular apparatus about the environment. "hen you walk down a hill the

visual input of the slope tells your body to ad*ust how you walk so that you can maintain your balance. 'ome children who toe walk receive their visual information in a skewed way. &heir eyes interpret the center of their body as leaning more forward than they are in reality. &his perception makes them think they need to walk leaning forward to maintain their balance and results in toe walking. "hen the toe walking is caused by visual issues, working with an optometrist and using prisms can often stop the behavior cold.

"hy is toe walking such a big issue(

Overtime, the issue can progress to a point that the muscles become asymmetrical. All muscles work in pairs. #ou have an antagonist muscle coupled with a protagonist muscle. &he calf muscle +a combination of the gastrocnemius and soleus muscles,, works against the muscle of the shin +called the tibialis anterior muscle,. "hen the calf muscle is contracted, the shin rela$es and vice versa. &hese muscles coordinate contraction and rela$ation to perform the movement of the lower leg. "hen a child toe walks, the calf muscle is in a constant state of contraction, disrupting the balance between the shin muscle and itself. &his leads to balance and coordination issues in the child.

&ibialis anterior muscle2 works opposite the calf to provide the body with balance and coordination

f the child continues to walk in this manner, the ankle *oint can become stiff and malformed causing a *oint deformity. )eformed *oints are called *oint contractures. Goint contractures are common in "' with :9; of individuals having issues with this in all stages of life and especially in adulthood. Goint contractures result from a muscle or *oint shortening because of increased tone for too long. &herefore contractures are shrinking or shortening of the muscle or *oint. &his issue is separate from tone although it@s typically a result of having too much tone in a muscle. 0ecause the *oints are made of connective tissue, one being elastin, contractures in individuals with "' is often found in tendons and *oints causing additional issues with the shortening of the muscle. n toe walking the contracture occurs in the ankle but in "' contractures can happen in other places where muscles are tight. %ost often contractures occur in the wrist, elbows, hands, hips, knees and ankles in individuals with "'.

&reating toe walking

&reatment should involve a physical therapist who will prescribe daily e$ercises to stretch the tendons and muscles to prevent cramping and contractures. &he most effective stretches use the patient@s body weight. .ave the child stand on the edge of a step, stool or block and let their heel drop behind. A caregiver can provide stabili=ation while the weight of the body places a deep stretch on the calf muscle. 'tretching is beneficial and typically the first form of treatment but if it is not done daily it can be ineffective. 'erial casting is the most effective form of therapy for calf muscle contractures. &he patient will be fitted for an orthotic that places the foot in a fle$ed state. &he casting continually provides a stretch to the muscle. &he casting can be ad*usted over time as the muscle becomes less tight. &his form of treatment should not be used for prolonged periods of time because it can actually make the muscle weaker and cause additional issues.

Other orthotics or braces, called %AHO@s, can be worn while the child is walking. &hese hold the ankle in the proper position to provide stretch to the muscle when the child is walking. &he orthotics last for about a year to a year and a half which is the amount of time typically needed to correct toe walking. f a child reaches adulthood, when growth stops or orthotics used for a year doesn@t show any improvement, the ne$t treatment may be surgery. )uring surgery, the tendon with a contracture will be surgically lengthened. Asually, the surgeon divides the tendon in half. One section of the tendon is then sewed onto the tendon in a location closest to the bone to achieve its desired length. After surgery, the patient would have to wear a cast for I weeks to immobili=e the *oint.

n conclusion
%uscle and *oint issues in "' are e$tremely common and preventable. t is important for an individual to be monitored by a physical therapist and5or orthopedic surgeon to monitor the tone of the muscle and use preventive measures to avoid issues like contractures.