John W. Harrington, MD

FigureThis child's legs show a rare congenital malformation of the lower limbs-tibial hemimelia (the incidence may be as low as 1 in 1 million live births).

Tibial deficiency is classified into 4 types

Type 1: complete lack of the tibia with either a nonfunctional knee (type 1a) or a functional knee (type 1b).

Type 4: short tibia with distal tibiofibular diastasis.

Both autosomal dominant and recessive patterns of inheritance have been proposed.

 Bilateral tibial hemimelia has also been associated with CHARGE syndrome and Langer-Giedion syndrome and may be linked to several loci on chromosome 8.

One study of 4 patients with tibial hemimelia whose limbs (5 in total) were dissected showed that although all the limbs had the same external clubfoot-like appearance with marked supination, the internal anatomy differed. 

 Three of the limbs had a flexor hallucis longus, whereas the other 2 lacked a discrete tendon that could be followed back to a discrete muscle belly. None of the dissected limbs had an identifiable anterior tibial and posterior tibial muscle belly. The "posterior tibial" neurovascular bundle and medial tendons were found to act as a tether that kept the foot locked in supination, as seen in this patient. Multiple abnormal combinations and unions of bones were found in the attached feet.

Because of the differences in presentation and anatomy, there is no agreed-upon treatment method for this deformity. However, knee disarticulation with early prosthetic fitting seems to be the most commonly performed procedure. Some surgeons do not approve of complete knee disarticulation because of stump complications and delays in independent postoperative ambulation. 

 One study reported independent walking in a 5-year-old patient with bilateral tibial deficiency just 15 weeks after he underwent a transtibial amputation with a plantar flap.

 The time to independent ambulation after knee disarticulation can be more than 16 months.

For all children with restricted ambulation, optimal mobility is essential to help them achieve independence and improve their health and quality of life.

Devitt AT, O’Donnell T, Fogarty EE, et al. Tibial hemimelia of a different class. J Pediatr Orthop. 2000;20:616-622. 

Turker R, Mendelson S, Ackman J, Lubicky JP. Anatomic considerations of the foot and leg in tibial hemimelia. J Pediatr Orthop. 1996;16:445-449. 

Fujii H, Doi K, Baliarsing AS. Transtibial amputation with plantar flap for congenital deficiency of the tibia. Clin Orthop Relat Res. 2002;403:186-190. 

Prasad C, Quakenbush EJ, Whiteman D, Korf B. Limb anomalies in DiGeorge and CHARGE syndromes. Am J Med Genet. 1997;68:179-181. 

Stevens CA, Moore CA. Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q. Am J Med Genet. 1999;85:409-412. 

Brunstrom JE. Clinical considerations in cerebral palsy and spasticity. J Child Neurol. 2001;16:10-15.  

Articles

Both autosomal dominant and recessive patterns of inheritance have been proposed.2 Bilateral tibial hemimelia has also been associated with CHARGE syndrome and Langer-Giedion syndrome and may be linked to several loci on chromosome 8.4,5

Bilateral Tibial Hemimelia

The easiest way to explain what "people-first" language is might be to examine what it is 

. We can do this by considering commonly accepted uses of titles that we may hear every day-usages such as "Coach Pat" or "Doctor Bob." Putting a person's title in front of his or her name may effectively convey what his or her vocation is. However, this also tends to conjure up a preconceived image of what that person looks and acts like. Making such assumptions is essential if we are to organize our thoughts and our world- and it may be acceptable and relatively innocuous under most circumstances. Unfortunately, though, labeling people in this way is not always so harmless.

Consider, for example, the historical example of Typhoid Mary. This moniker has forever defined Mary in people's minds as a carrier of typhoid, and many-whether rightly or wrongly-may imagine that she was a woman with open weeping sores who infected millions. But suppose people-first language is used instead to describe Mary. We might say that Mary was an Irish immigrant cook, a well-appearing woman with a subclinical typhoid illness who in the early 1900s accidentally caused multiple outbreaks of typhoid fever in New York City. Obviously, "Mary" and "typhoid" are still linked, but one does not define the other.

Fast forward to the present and the rapid growth both of interest in medical diseases and of multiple media outlets that distill complex topics into 30-second sound bytes. The resulting economy of words does not favor the use of descriptive or people-first language. Hence, when medical topics such as autism, diabetes, or cancer are discussed, people tend to lump the disease and the person together, thereby diluting the importance of the person. Terms such as "autistic community," "diabetic child," or even "cancer patient" inseparably conflate the disease and the person or group.

Consider the following 3 pairs of sentences. The first sentence in each pair-always the shorter of the 2-is not in people-first language; the second sentence is in people-first language.

 Autistic children like Amy can be diagnosed as early as 18 months.

 Amy is a child in whom autism was diagnosed early-as is frequently the case with this disorder, which is sometimes diagnosed as early as age 18 months. (people-first language)

 David is a diabetic teenager who enjoys the freedom his insulin pump gives him.

. David is now a healthy teenager with diabetes who enjoys the freedom his insulin pump gives him. (people-first language)

 Wheelchair-bound William often laments about the recent car accident that left him paralyzed from the waist down.

 William often laments about the recent car accident that left him paralyzed from the waist down and restricted to a wheelchair. (people-first language)

I hope these examples are enough to convince you that people-first language does matter. Although it requires a few more words and a few more seconds to communicate the same information, it puts the human being ahead of the condition, which is where we deserve to be.

The easiest way to explain what "people-first" language is might be to examine what it is not. We can do this by considering commonly accepted uses of titles that we may hear every day-usages such as "Coach Pat" or "Doctor Bob."

People-First Language

As the father of a child with severe classic autism--and as a pediatrician--I understand how much parents want to try different treatment approaches to help their child. Many parents ask me about complementary (or alternative or holistic) therapies, such as restrictive diets, secretin, chelation, and omega-3 supplements. Some inquire after hearing claims that a particular diet or supplement or herb can work wonders. Others ask about these therapies after reading studies on the Internet, in magazines, or in newspapers. 

Understandably, many parents of a child with autism desperately want something to work for their child. But we do not want to waste our time and money on treatments that will do our child no good. What we need is evidence --objective and unbiased--of therapeutic benefit. Unfortunately, there is little scientific proof that any specific therapy besides intensive behavioral training will improve the autism. There are no large, randomized, double-blind, placebo-controlled, trials (RCTs) available to help us understand what a therapy can or cannot do for a child with autism. RCTs are the gold standard of scientific research, as I describe here. 

hether to try a complementary or an alternative therapy is essentially a personal family decision--one that needs to be made without "irrational exuberance." I hope the information presented here helps you assess the available evidence about a particular therapy before you decide to try it.

Why is it important for a study to be "controlled"?

When investigators want to study the effects of a therapy objectively, they compare it against a "fake" treatment--or placebo--in 2 groups of patients. The researchers are not told which group is getting the active treatment and which is receiving the placebo. If they were told, their interpretation of the results could be biased because they might wish that the therapy would work better than the placebo. 

Why is it important for patients to be randomly assigned to a therapy or to a placebo?

The first step in testing a medicine or a particular diet or other therapy is to choose who will get the "real" treatment and who will get the placebo. Patients should be chosen randomly (by chance)--not at the whim of one person. Random selection eliminates that person's unknown or unconscious bias. 

Most studies use some type of rigid selection system to eliminate bias. Let's say that all those whose social security number ends in an odd number would receive treatment, and those with an even last number would be given placebo. Because there is an equal chance of having an even or odd last number, then the groups would be divided roughly equally. 

How large does a study need to be for results to be "scientific"?

If the total number of patients in a particular study is small, the treatment groups could be divided unevenly. A disproportionate number of people might get the medicine or the placebo. For instance, if there are only 10 people in a study, 9 might have an odd social security and 1 might have an even number. 

This imbalance sometimes occurs when you flip a coin 10 times and it comes up "heads" 9 times out of the 10. However, if you flipped that same coin 100 times instead of 10, the "heads"-to-"tails" ratio would even out.

It's the same in a randomized trial. If there are a small number of patients, the balance between the 2 study groups may be skewed. Unless a study has an adequate number of patients, the results may not tell the true story.

Many of the studies of complementary or alternative treatments lack a control group and include fewer than 20 patients. Consequently, their results can't be considered reliable.

How does the placebo effect figure into a scientific study?

The placebo effect is a fascinating concept. If a person is told that a medicine will make him or her feel better, the mere power of that suggestion can create a powerful positive response. This effect was noted during World Wars I and II when morphine supplies ran low: doctors injected saline or sugar water and told the soldiers that they were being given strong pain medicine. The power of the soldier's belief actually diminished their perception of pain.

The same effect applies to therapies for autistic children. For example, you may have heard or read that if your child sticks to a gluten- and casein-free diet, his or her autism will improve. Your child may actually improve with this diet, or it may only seem that the diet is helping because of the placebo effect. It may also be that you are doing several other things in addition to the diet, such as applied behavioral analysis, social skills training, or verbal behavior, that may be helping your child. In other words, it's impossible to tell whether the diet itself is really helping.

Don't patients know they are receiving a placebo and not the real therapy? 

In an RCT, patients aren't told whether they are receiving active therapy or placebo. It can be quite difficult to make placebo and active therapy "look alike." In a study of a gluten- and casein-free diet, for example, the control group (the group receiving placebo) wouldn't actually follow the diet. However, patients might be asked to take a pill (a fake pill) that they are told will absorb all the gluten and casein, and that they can eat whatever they want. The patient's parents will believe that they are still maintaining a gluten- and casein-free diet--when in fact they are not.

Placebo-controlled studies are difficult to conduct because parents need to sign a consent acknowledging that they are aware that their child could receive a fake pill. Such a study may actually require 3 control groups:

•Group 1 would follow a strict gluten- and casein-free diet.

•Group 2 would eat a regular diet and would take a "pill" that absorbs gluten and casein.

•Group 3 would eat a regular diet without restrictions.

Only by eliminating variables can the true effect of a therapy be assessed, but it is not always easy to "control" a study. However, it is important to consider these variables before testing a therapy. 

Unfortunately, many treatments for autism are not tested with this in mind; this only serves to create or perpetuate false or invalid information.

"Double-blind" does not mean that researchers have to close their eyes (as my daughter suggested when I brought up this topic). "Double-blind" means that neither investigators nor patients know who is receiving therapy or placebo during a study.

How is this possible? Studies of secretin offer an explanation. The doctors were given vials of secretin labeled "A" or "B." Only one of the vials actually contained secretin, but the doctors were not told which one. Parents weren't told either. Only the pharmacist knew; this information was revealed at the end of the study. 

In short, patients with vial A or B are "blinded" to what they are actually getting, as are the doctors and study evaluators. It is extremely important to maintain a double blind throughout the study. However, occasionally, when preliminary data suggest that a treatment is potentially harmful or helpful, the blinding can be removed.	*

Complementary or Alternative Therapies: Can They Help a Child With Autism?

This 21-month-old toddler was brought for a well child visit. His head had been large since birth; at this visit, head circumference was 51 cm (significantly above the 95th percentile). Neurological findings were normal; except for some early developmental gross motor delays, he was on a par with his peers. All other physical findings were normal. His mother's head circumference is 59 cm and his father's is 64 cm.

The child underwent MRI scanning at 7 months of age because of the macrocephaly. Scans showed symmetrical bifrontal subarachnoid cerebral spinal fluid, typical of benign external hydrocephalus. It is important to determine whether the location of fluid is subarachnoid or subdural, because the latter could be related to child abuse or prior meningitis. In 35% of children with benign macrocephaly, macrencephaly (or excess brain tissue) is also present.

Benign macrocephaly--also known as macrocrania or megacephaly--is hereditary and most likely autosomal dominant.

 The condition of external hydrocephalus and macrocephaly usually stabilizes in the second to third year of life; the head circumference is generally around the 98th percentile by age 3 years.

 Children should be monitored closely by their pediatrician and, in some cases, by a neurologist for developmental progression. Infantile macrocephaly is associated with an increased risk of autism spectrum disorders.

Other syndromes associated with macrocephaly (enlarged ventricles, excess brain tissue, or hydrocephalus) and a normal IQ and neurological findings are

Some warning signs and symptoms consistent with increased intracranial hypertension in patients with severe macrocephaly include bulging fontanelle, separated cranial sutures, abnormal eye movements, seizures, lethargy, vomiting, and irritability.	*

 Asch AJ, Myers GJ. Benign familial macrocephaly: report of a family and review of the literature. 

 Cole TR, Hughes HE. Autosomal dominant macrocephaly: benign familial macrocephaly or a new syndrome? 

 Bolton PF, Roobol M, Allsopp L, Pickles A. Association between idiopathic infantile macrocephaly and autism spectrum disorders. 

John W. Harrington, MD

Articles

Bilateral Tibial Hemimelia

People-First Language

Complementary or Alternative Therapies: Can They Help a Child With Autism?

Benign Macrocephaly