THE SAGA OF THE LOOSE CHILD

One of my clearest recollections of childhood was crying to sleep with leg pains. I can't remember exactly at what age they bothered me and I can't remember what my parents tried to do, I just remember they ached. My childhood physical activity was confined mostly to trombone playing and tennis. Maybe I was a better slicer in tennis than some, but I don't remember any particular advantage in trombone that looseness might have provided me. I took up golf in high school and also don't remember any loose advantages there.

Shortly after I began practicing pediatrics, I began running around the block with some other dads on my street. Then we moved to Lake Forest and I left my running buddies behind and I began running by myself and increased my mileage. Without realizing why, I began to have knee pain. I tried changing shoes several times but with no real improvement. Finally I went to a sports podiatrist who told me that I had pronation problems and made orthotics for me which much improved my knee pains. However, after a certain amount of miles, I would start to have pains a gain and realized that even just a little wear on shoes could stress my knee joints. In my running days there were numerous times when I stepped in a hole or off a curb and thought I had severely sprained my ankle, only to walk a little ways and then continue running. I did actually sprain my ankle pretty severely in the dark of early morning near Lake Mission Viejo when we jumped over a barricade and I landed on a quarter-size rock on the other side. Even then, I went to physical therapy for a couple of days and was back to running. But I must truly say that there were only rare days in my running years when something didn't hurt.

Looking way back in the beginning of my life, I was born with a club foot on the left and had a cast on my lower leg for several weeks to correct it.

(Interesting, but not surprising, is the fact that my son, Dr. Mike the pediatric dentist, also had a cast on the same foot for the same reason.)

My parents also told me the story later of the very kind orthopedic doctor in Corpus Christi who treated my foot without out charging my parents because my Dad was in the Navy.

So in my personal life I had these three different circumstances which caused me to start paying attention to babies and children that are "loose", and what follows is what I have figured out by observation and researched a little on the Internet regarding "loose" children. Photo left shows a "loose woman".

It appears to me that most babies that are born with legs and feet which are folded around their bottoms inside the uterus come from mothers who are also "very flexible". Recently I asked a mother of a third baby who was very loose, "Where did you deliver?" She responded, "In the car!" I wasn't very surprised in that the pelvic ligaments loosen with pregnancy and if that happens in a loose mother, babies can almost fall out. It would seem that the size of the baby might also have an influence on the amount of torsion on the legs as they fold up in the uterus. And with that in mind it was

probably no surprise for our 11 lb. 1 oz. son to have a club foot. With my feet, even after having the cast on my clubfoot, I continued to have metatarsus varus which is a turning to the middle of the front of the foot and it still is somewhat visible today and I do better in straight last shoes.

As we watch loose babies grow, we see them start to put their toes in their mouths and often I can put a foot on each ear. When they get on their tummies, they tend to be "flatter on the mat" suggesting that they might someday be great at wrestling. It appears that the looseness of the ligaments prevents being able to lock their elbows and shoulders to push up. Thus we refer to them as combat crawling once they begin moving.

So they are "late to crawl" and when this is combined with the fact that many of them do not walk until a ways past one year, they also appear to be developmentally delayed. Standing means putting their weight on top of a loose ankles, loose knees and loose hips. This is a lot like standing on stilts, and I say that smarter loose babies walk later because they know that walking early will mean banging their head more. These loose babies also tend to sit with their legs in a "W" and my second grandson even walked first on his knees with his feet trailing behind. Loose toddler do fall significantly more because of their instability and the fact that loose hips allow their "tips to cross" and take them down. There appears to be some connection between loose ligaments and certain developmental disorders of children. Some of the loose babies who appeared delayed may actually have a more complicated situation. (See http://skillsforaction.com/?q=node/16#dcdhypermobile for a very nice discussion of developmental coordination disorder or dyspraxia and see reference summary from a study at the end of this blog). There are more stitches involved with being loose, but usually very few broken bones as they grow older because they sort of fall in segments instead of slamming into whatever they fall against.

As the years go by we see loose five and six year-olds at Disneyland saying "Carry me, my legs are tired" and "I don't want to walk anymore." Some of them don't like soccer or other sports because the running makes their legs tired. And often they complain of pains in the knees or shins after particularly physical days. These pains were often thought to be "growing pains" in past times, but it is becoming clear that they most often occur in children with hypermobile joints (loose kids). A simple way of looking at the situation is that the muscles are working so hard to hold the joints steady that they get tired and ache. I have found that often taking a regular strength Tums (calcium carbonate) at suppertime will alleviate the symptoms and perhaps the muscles are calcium depleted from overwork. There certainly are teens who grow a tremendous amount in a short time and probably do have some pain actually related to the rapid growth and stretching, but this is no doubt exaggerated in the loose teen who grows rapidly. There are more stitches involved with being loose, but usually very few broken bones as children grow older because they sort of fall in segments instead of slamming into whatever they fall against. Although sprains, subluxations, and dislocations are more common in hypermobile children, the amount of tissue damage occurring with these acute injuries may actually be decreased due to the increased laxity of joint structures.

What I have termed "loose" is in medical terminology called Benign Joint Hypermobility Syndrome and it ranges from 2% to 30 % of children. The highest freqiemcu os seem om families that have one or more affected individuals; in females; and among people of Asian, African or Middle Eastern descent. Although joint hypermobility is maximal at birth (and perhaps in utero) children between 3 and 10 years of age have the highest occurrence, perhaps because of changes in body shape and size during a period marked by the increased demands of physical activity.

Most commonly, hypermobility has been linked with developmental hip disorders, delayed motor development, anterior knee pain syndrome, joint dislocation/subluxation, back pain, TMJ disease and flat feet. Once of the most controversial debates is whether BJHS predisposes to early osteoarthritis and degenerative joint disease. (There is also debate about whether Benign should be in the name of the process.) Studies have demonstrated a significant association among fibromyalgia, chronic fatigue syndrome and joint hypermobility in school-age children.

Excessive joint movement is associated with the development of symptoms in patients with hypermobile joints. Vigorous and repetitive activities have be listed as aggravating factors. Over training, poor pacing, too many performances or competitions, and focusing on joint flexibility rather than stability may all increase joint pain and risk of injury. Exercise therapy to improve muscular stability and proprioception at specific joints are essential to symptom management.

Back pain tends mainly to affect adolescents and is often associated with poor posture, although the incidence of lumbar disc prolapse, pars interarticularis defects and spondylolisthesis are all more common in hypermobile teens. Sitting posture is particularly important as children can spend a lot of time in front of a computer, at a desk in school or playing electronic games in slouched or unsupported positions, which increases the pain and strain on ligaments. Carrying large heavy book bags slung over the shoulder can also add to the problem.

So in summary, most loose babies will eat their toes more, look a little slow developmentally but recover, fall a little more often and perhaps have a few more bruises and stitches, have more aches and pains in childhood and youth activities, and may or may not have more joint issues as adults than babies who aren't loose.

Addendum: An excellent review article is found at

http://www.thefreelibrary.com/_/print/PrintArticle.aspx?id=54963603

Infants with hypermobility have higher incidences of motor delay, even in the absence of an identified neurological deficit. Among infants between 8 and 14 months of age, 30.2% of those with HMS had motor delay versus 10.9% of infants without HMS. Six months later, 75.9% of the infants with HMS no longer had hypermobility; 83.3% of these infants caught up in motor development, whereas only 54.5% of the infants who remained hypermobile caught up.[43] At 5 years of age, children who had hypermobility and motor delay at age 18 months were 3 times as likely as other children to have motor delay.

THE BUMPS OF LIFE

“The truth is that our finest moments are most likely to occur when we are feeling deeply uncomfortable, unhappy, or unfulfilled. For it is only in such moments, propelled by our discomfort, that we are likely to step out of our ruts and start searching for different ways or truer answers.” - Scott Peck

The bumps of life can be physical or they can be mental. The mental bumps of life are about feeling out-of-control. The photo shows me gripping the rail (tighter than can be seen in the picture) at the top of Yosemite Falls (one of my favorite places). Even though I wanted with all my heart to be there, the situation made my feel very out-of-control. I also remember returning to the same place with my son, Michael, (then 18 years old) and feeling just as out-of-control as I waited for him to climb down to the rail at the edge, feeling that if anything happened to him I would never get over it. I even had a dream throughout childhood and youth of falling in a silo, unable to grab onto the sides. (Kansas out-of-control dream) It gradually became clear to me as I "grew" thru my mid 50s that "Life is a recurring out-of -control feeling."  It begins when we slide out of our mother (or are lifted out, which is more often in today's world in an attempt to prevent birth trauma) into the crazy world outside the uterine hotel. The out-of-control (OOC) feelings continue as we experience touch (the ob's hands pulling us out), the bright light overhead, air on our wet body, suction in our nose and mouth, the sound of excited voices crying out in excitement at our coming, the softness of our mother's abdomen and the closeness of being held in her arms followed the flatness of the warmer and a lot more touching. Then there is the grease in our eyes and the stab in the leg. And this is only the beginning of dozens of OOC feelings which we experience in the first hours and days of life.

It continues as we are passed from warmer to bassinet to relatives arms to infant carrier(which when carried by anyone must feel like a quick jet ride to a new baby- they strap you in semi-tight and up, up and away!) to the car for the ride home. And we head off into the rest of our life.

An OOC feeling can be handled in two ways: we can avoid it and it will continue to cause us to feel out-of-control every time we are in the same situation, or we can move directly into it and gradually or suddenly realize that the feeling can be tolerated and that our mind and body can learn to deal with it in a positive and productive manner. In early life this process requires that our care takers be willing to allow us to enter situations which cause OOC feelings like the flat place in our bassinet, or the air on our body when changing diapers and clothes, or the voices and sounds of a normal home. 

Everything that is not like the uterine hotel will create an OOC feeling for each baby initially and his first response will be an opinion, which in baby language is fussing or crying out. New babies are creatures of habit like all of us and they all have opinions about what is not their habit. Breathing, sucking, swallowing, peeing and pooping are all new experiences, at least when not done under water. 

As Dr. Sammons says in The Self-Calmed Baby, "the babies experience. . .is not very different from what yours would be if I took you blind-folded and deposited you without explanation in outer Mongolia." Babies reactions and adjustment to each of these new OOC feelings and the amount of opinions they have vary with each totally unique baby. And the reaction of each set of parents to this transition and their ability to allow their baby to experience OOC feelings and to be understanding listeners as the baby has opinions is just as variable. 

Parents often say "Our baby has her days and nights backwards". It's more likely that she has her days and nights straight, it's just backwards to ours. New mommies will say "She wants to eat every hour" without knowing that babies use sucking as their primary means to handle the stress of the outside world. A parent will say "The baby woke up because his diaper was wet" to which I respond, "These diapers will hold a quart and all the other babies are sleeping through  with wet diapers." In the past we held babies facing up in our arms so we could see them and speak to them, and when they started fussing about the situation, we began to bounce them up and down. We now know that the face up position is disorganizing to babies and that they prefer ventral pressure against their chest which is organizing for them. This pressure can be created by laying them over our arm with their head at our elbow or by holding them against us with a hand across their chest and them facing away from us. In addition, babies open their eyes when they lean forward and looking can also be calming for them. (I was always told to keep my arms off the table when eating. Now my friend Tim Healey has given me permission to have my arms on the table because is allows my mind to engage in better listening) Guess I have to throw in a Shannon childhood story or I will forget it. One day my brother, Mark, was sitting at the table at lunch and (since he couldn't have his arms on the table) started waving his napkin in the air. My mother sternly scolded, "Mark, is that necessary?" to which Mark responded, "No! It's a nakin."

Even the sound of our voice and looking directly face to face can at times be too much stress for a new baby. " Understanding listening" means observing what we do to or for our baby that makes him more calm and relaxed. This can often include doing nothing. As Dr. T. Berry Brazelton suggests, we need to look for what babies can do rather than what they can't do. Each baby is born with a different temperment and with a variably mature nervous system. Some babies are very "laid back" and little seems to upset them, while others seem to have less good filters to noises and sensations and can be extremely stressed by normal baby life in the outside world. Even pooping can be a very confusing event for baby and parents. I had the privilege to learn from a very  "colicky" baby the the sensations of pooping can cause great distress. This baby would only poop every 5-6 days, but he wasn't constipated because the stools were very mushy and soft. However, starting about the time he should have had his next poop (with normal frequency), this baby would get progressively fussier with each passing day until by the 5th or 6th day he would be screaming most of the day. Then he would finally pass a humongous stool and he would settle into the most calm, relaxed mood, as if "Whew, I survived and I didn't blow my bottom off!" Recent brain research has revealed that we have nerve fibers related to perceiving stress around every hollow organ in our body. So it is not surprising that a certain babies have what seems like exaggerated feelings about the volume of stool in their colon.

Bill Sammons in The Self-Calmed Baby provides the following insight into the importance of being understanding listeners:

"The key to putting everyone on a firmer foundation lies in the way we think about newborns. In the last twenty years (written in 1989) babies finally have been recognized as the human beings they are rather than the passive, bland slates they were once thought to be. (This change was in large part due to the work of  Dr. Brazelton) From the moment of birth, a baby can see and hear and think. He's an individual, with unique concerns and abilities. Like his parents, the infant is a partner with equal responsibility for creating and sustaining a happy relationship with members of the family. To carry out his part of the bargain, however, he must learn to communicate and to develop clear behavior signals, skills for which is naturally competent."

"Self-calming makes all of this possible. With self-calming the infant is able to assert control over his own reactions to those things or events that used to make him cry or become disorganized. By sucking on his hand, staring out a window, maneuvering into a certain body position, or some other self-calming skill, he can keep himself from crying (feeling out-of-control = my words) or stop crying - without help from his parents. Thus he develops an enhanced feeling of security and competence. And the infant's success in self-calming is circular. The calmer the baby, the greater the quantity and quality of time his parents can spend with him (without them feeling out-of-control = my words). The more time the spend together, the better their relationship grows, as each becomes more adept at communication. Then, and only then, do love and attachment grow and flourish."

Dr. Sammons suggested that new parents can "learn what your baby is trying to say more quickly if you begin from a premise that your child is trying to provide some message through his cries. Rather than guessing at the message, which is likely to cause your responses to be inappropriate and confusing much of the time, start with a relative low-level response and then slowly build your involvement until the crying stops, indicating that you have met your child's need." 

Possible initial things to try include: 

1) listen, if the baby is just fussing to see if it continues and escalates

2) talk to the baby from across the room

3) go to the baby and apply pressure to his chest somewhat firmly 

4) talk to the baby from closer distance

5) see if the baby will suck on his own hand 

6) check to see if the baby needs to be changed

7) talk to the baby again

8) pick the baby up and walk over to a chair and hold in a ventral pressure position

9) hold the baby with ventral pressure and move side to side sitting or walking

10) do 8 or 9 while letting the baby suck on your finger

11) try feeding the baby

Feeding will always solve the problem unless the baby is extremely fatigued or overstimulated.

This is because feeding meets all the babies priorities except sleep. Feeding provides the baby with all the possible soothing behaviors including touch, warmth, sucking, rhythmic stimulation (rocking), social stimulation and food. But as Dr. Sammons points out, "But consider how excessive the response is if, in reality, the baby simply wants to be talked to and the parent responds by feeding the child: it is like the baby asking for a quarter and the parent gives him a twenty-dollar bill and telling him to keep the change. For a while the baby may be placated, but the parent soon goes broke. The physical and emotional demand is too high to sustain. And no communication is established; the baby always gets the same response."

Speaking of money, I would add my own two cents. Feeding a baby who is not hungry to calm him is "mood altering" with food. We now have a country in which there are more obese people than over-weight people. Can we afford to continue to teach young babies to eat to make themselves happy. Food is fuel and has the purpose of making our bodies go. If we learn to calm ourselves early in life (the idea that each person is in charge of his own happiness) without the use of food, we will be much better prepared for all the bumps of life and OOC feeling that come our way.

FOLLOW UP ON BLUE EYES

I have always said that blue-eyed children with skin darker than pale had dark-eyed ancestors. Now that we know blue eyes are a mutation, I guess we have to say that we all had dark-eyed ancestors. 

Another thing I have often mentioned is that children with lots of gooey ear wax had ancestors from cold places. It turns out to be only partially true. In fact, eax wax consistency is genetically determined: the wet type, which is dominant, and the dry type, which is recessive. Asians and Native Americans are more likely to have the dry type of cerumen (grey and flaky), whereas Caucasians and Africans are more likely to have the wet type (honey-brown to dark-brown and moist). For more than you ever wanted to know about eax wax:

http://www.abc.net.au/science/articles/2006/01/30/1558166.htm

http://www.expasy.org/spotlight/back_issues/067/

SIMPLE ANTHROPOLOGY OF BLUE-EYED PEOPLE

Watching patients and families come through my office for the past several decades has allowed me to formulate some thoughts about blue eye color and physical characteristics of humans who have them. Thinking about where blue-eyed people came from geographically, it seems a high

 percentage of them came from northern places where average temperatures are colder, such as Ireland and England in my case, and Scandinavia and other northern European countries. In

 those regions it would make sense that there is adaptation to cold, just as it seems that people with darker skin and darker eyes seem to tolerate warmer geographical areas better and even prefer them. One of the adaptations that I have observed is the ability of blue-eyed babies to preferentially send blood to their core when they are exposed to decreases in room temperature, as in the first few hours after birth or taking their clothes off for a feeding or an exam. Their hands and feet become purplish, they may get blueness around the mouth and often their skin mottles.. Continuing to circulate blood to the skin only makes one colder. When

 sleeping in the winter, they may wake in the morning with "freezing" hands, but the rest of their body is toasty warm. In warmer ambient temperatures, blue-eyed toddlers often get quite red in the summer heat or when running around and often wake from naps in the summer drenched with sweat. Just as  they circulate less blood to the skin when cooler, they send more blood to the skin when hot to help lower body temperature. We often say babies "run hot" or adults will say, "I always run hot". 

It appears to me that blue-eyed people in general have warmer bodies than dark-eyed people. Blue-eyed people are more comfortable living where it is cooler and dark-eyed people living where it is warmer like southern California. I have observed in the hospital that most of the babies who seem to be having trouble maintaining temperature are dark-eyed babies, and I have wondered if they are not having a normal dark-eyed lower temperature. 

Living in a cold place, people wear more clothes and are exposed the sun and air less, whereas dark-eyed people living in a warm place do not wear as much clothing to cover up the skin. This appears to result in blue-end people having more sensitive skin because we accumulate less melanin in our skin. Another result of being warm and living in a warmer place is that blue-eyed people tend to sweat more because of being too warm. The combination of more sensitive skin and sweating too much leads to dry skin and the issues that go with it. In addition, we tend to dress babies in one layer more than adults and this is probably one layer too much for blue-eyed babies. Blue-eyed children and adults will as a result have to spend more time moisturizing skin and choosing soaps and skin care products which do not tend to dry the skin.

Blue-eyed children and adults are also much more sensitive to light in the eyes. When I first  moved to southern California, I truly thought there was something wrong with my eyes because I was almost blinded by stepping out of buildings into the sunlight. I see the same reaction in the office when I use the

 ophthalmoscope to check eyes on an exam. Blue-eyed children start squinting before I even get close to their eyes and often their eyes water. An interesting thing is that some brown-eyed children have the same reaction and then I look and either mom or dad has blue eyes, so brown-eyed children who have blue-eyed ancestors can have the same reaction. 

Most babies will have their permanent eye color by 6 months, but I have seen babies who finally changed around 2 years old. And it turns out that eye color changes even later in life in a certain percentage of the population. As a general rule, babies eyes can change from blue to brown, but brown eyed babies never change to blue eyes.

A very detailed article on Eye colour: portals into pigmentation genes and

ancestry can be found at:

http://www.biosci.ohio-state.edu/~pfuerst/courses/eeobmg640/reading1eyecolor.pdf

In January 2008 information appeared in Scienceblog and in an article from the Wellcome Trust regarding the origin of blue eyes:

All blue-eyed humans have common ancestor

http://www.scienceblog.com/cms/print/15361

By BJS

Created 01/30/2008 - 16:14

  New research shows that people with blue eyes have a single, common ancestor. A team at the University of Copenhagen has tracked down a genetic mutation which took place 6-10,000 years ago and is the cause of the eye colour of all blue-eyed humans alive on the planet today. “Originally, we all had brown eyes”, said Professor Eiberg from the Department of Cellular and Molecular Medicine. “But a genetic mutation affecting the OCA2 gene in our chromosomes resulted in the creation of a “switch”, which literally “turned off” the ability to produce brown eyes”. The OCA2 gene codes for the so-called P protein, which is involved in the production of melanin, the pigment that gives colour to our hair, eyes and skin. The “switch”, which is located in the gene adjacent to OCA2 does not, however, turn off the gene entirely, but rather limits its action to reducing the production of melanin in the iris – effectively “diluting” brown eyes to blue. The switch’s effect on OCA2 is very specific therefore. If the OCA2 gene had been completely destroyed or turned off, human beings would be without melanin in their hair, eyes or skin colour – a condition known as albinism. 

Variation in the colour of the eyes from brown to green can all be explained by the amount of melanin in the iris, but blue-eyed individuals only have a small degree of variation in the amount of melanin in their eyes. “From this we can conclude that all blue-eyed individuals are linked to the same ancestor,” says Professor Eiberg. “They have all inherited the same switch at exactly the same spot in their DNA.” Brown-eyed individuals, by contrast, have considerable individual variation in the area of their DNA that controls melanin production. 

Professor Eiberg and his team examined mitochondrial DNA and compared the eye colour of blue-eyed individuals in countries as diverse as Jordan, Denmark and Turkey. His findings are the latest in a decade of genetic research, which began in 1996, when Professor Eiberg first implicated the OCA2 gene as being responsible for eye colour. Nature shuffles our genes 

The mutation of brown eyes to blue represents neither a positive nor a negative mutation. It is one of several mutations such as hair colour, baldness, freckles and beauty spots, which neither increases nor reduces a human’s chance of survival. As Professor Eiberg says, “it simply shows that nature is constantly shuffling the human genome, creating a genetic cocktail of human chromosomes and trying out different changes as it does so.” 

Blue eyes and red hair

http://www.wellcome.ac.uk/Professional-resources/Education-resources/Big-Picture/All-issues/How-We-Look/Articles/WTD041629.htm

 

The genetic basis of blue eyes and the classic Celtic look - red hair and pale skin - has been discovered. Both are linked to the production of melanin.

Although eye colour used to be considered a simple Mendelian recessive trait, the genetics of human eye colour are surprisingly complex. Eye colour depends on pigments in the iris (principally eumelanin), and many subtle shades exist. A key factor seems to be variation in the OCA2 gene, which is mutated in a form of albinism.

This is not just of cosmetic interest. Variation in OCA2 also affects freckling and skin pigmentation and is a risk factor for skin cancer.

Surprisingly, blue eyes result not from changes in OCA2 but in a nearby gene, HERC2, which regulates OCA2. In January 2008, several groups identified HERC2 mutations - in fact, all present-day examples of blue eyes may have their origins in a single change that occurred 6-10 000 years ago, during the expansion of humans in the Stone Age.

Why did it persist - blue eyes seem to offer no selective advantage? Perhaps it was chance. Or perhaps blue eyes were particularly attractive to Stone Age women…

Low melanin levels is also a feature of the classic ‘Celtic’ look - red hair and pale skin. It is a feature of people with two inactive alleles of the gene for the melanocortin 1 receptor (MC1R), who need to be particularly careful about sun exposure, as they are more vulnerable to UV radiation and at increased risk of skin cancer.

MC1R codes for a receptor found on pigment cells, melanocytes, which make skin pigments - eumelanin and the lighter phaeomelanin. Variation in MC1R affects the ratio of eu- to phaeomelanin and hence the depth of colour in the skin. Redheads produce almost no eumelanin.

Interestingly, analysis of two Neanderthal remains revealed variation in their MC1R gene sequence, suggesting that Neanderthals too showed variation in hair and skin colour pigmentation.