Autism

Autism is one of a group of serious developmental problems called autism spectrum disorders (ASD) that appear in early childhood — usually before age 3. Though symptoms and severity vary, all autism disorders affect a child's ability to communicate and interact with others.

It's estimated that three to six out of every 1,000 children in the United States have autism — and the number of diagnosed cases is rising. It's not clear whether this is due to better detection and reporting of autism, a real increase in the number of cases, or both.

What is clear is that though there is no cure for autism, intensive, early treatment can make an enormous difference in the lives of many children with the disorder.

Symptoms

Children with autism generally have problems in three crucial areas of development — social interaction, language and behavior. But because the symptoms of autism vary greatly, two children with the same diagnosis may act quite differently and have strikingly different skills. In most cases, though, the most severe autism is marked by a complete inability to communicate or interact with other people.

Many children show signs of autism in early infancy. Other children may develop normally for the first few months or years of life but then suddenly become withdrawn, aggressive or lose language skills they've already acquired. Though each child with autism is likely to have a unique pattern of behavior, these characteristics are common signs of the disorder:

Social skills

* Fails to respond to his or her name
* Has poor eye contact
* Appears not to hear you at times
* Resists cuddling and holding
* Appears unaware of others' feelings
* Seems to prefer playing alone — retreats into his or her "own world"

Language

* Starts talking later than other children
* Loses previously acquired ability to say words or sentences
* Does not make eye contact when making requests
* Speaks with an abnormal tone or rhythm — may use a singsong voice or robot-like speech
* Can't start a conversation or keep one going
* May repeat words or phrases verbatim, but doesn't understand how to use them

Behavior

* Performs repetitive movements, such as rocking, spinning or hand-flapping
* Develops specific routines or rituals
* Becomes disturbed at the slightest change in routines or rituals
* Moves constantly
* May be fascinated by parts of an object, such as the spinning wheels of a toy car
* May be unusually sensitive to light, sound and touch and yet oblivious to pain

Young children with autism also have a hard time sharing experiences with others. When read to, for example, they're unlikely to point at pictures in the book. This early-developing social skill is crucial to later language and social development.

As they mature, some children with autism become more engaged with others and show less marked disturbances in behavior. Some, usually those with the least severe problems, eventually may lead normal or near-normal lives. Others, however, continue to have great difficulty with language or social skills, and the adolescent years can mean a worsening of behavior problems.

The majority of children with autism are slow to acquire new knowledge or skills and some have signs of lower than normal intelligence. Other children with autism have normal to high intelligence. These children learn quickly yet have trouble communicating, applying what they know in everyday life and adjusting in social situations. An extremely small number of children with autism are "autistic savants" and have exceptional skills in a specific area, such as art, math or music.
Causes

Autism has no single, known cause. Given the complexity of the disease, the range of autistic disorders and the fact that no two children with autism are alike, it's probable that there are many causes. These may include:

* Genetic errors. Researchers have discovered a number of genes that appear to be involved in autism. Some may make a child more susceptible to the disorder; others affect brain development or the way brain cells communicate. Still others may determine the severity of symptoms. Each genetic error may account for a small number of cases, but taken together, the influence of genes may be substantial. Some genetic errors seem to be inherited, whereas others occur spontaneously.
* Environmental factors. Many health problems are due to both genetic and environmental factors, and this is likely the case with autism as well. Researchers are currently exploring whether viral infections and air pollutants, for instance, play a role in triggering autism.
* Other causes. Other factors under investigation include problems during labor and delivery and the role of the immune system in autism. Some researchers believe that damage to the amygdala — a portion of the brain that serves as a danger detector — may play a role in autism.

One of the greatest controversies in autism centers on whether a link exists between autism and certain childhood vaccines, particularly the measles-mumps-rubella (MMR) vaccine and vaccines with thimerosal, a preservative that contains a small amount of mercury. Though most children's vaccines have been free of thimerosal since 2001, the controversy continues. To date, extensive studies have found no link between autism and vaccines.

Risk factors

Autism affects children of all races and nationalities, but certain factors are known to increase a child's risk. They include:

* Your child's sex. Studies show that boys are three to four times more likely to develop autism than girls are.
* Family history. Families who have one child with autism have an increased risk of having another child with the disorder. It's also not uncommon for the parents or relatives of an autistic child to have minor problems with social or communication skills themselves or to engage in certain autistic behaviors.
* Other disorders. Children with certain medical conditions have a higher than normal risk of having autism. These conditions include fragile X syndrome, an inherited disorder that causes intellectual impairment; tuberous sclerosis, a condition in which benign tumors develop in the brain; the neurological disorder Tourette syndrome; and epilepsy, which causes seizures.
* Paternal age. Research increasingly suggests that having an older father may increase a child's risk of autism. One large study showed that children born to men 40 years or older were almost six times more likely to have autism spectrum disorder than were children born to men younger than 30 years. Maternal age, on the other hand, seems to have little effect on autism risk.
Tests and diagnosis

Your child's doctor will look for signs of developmental delays at regular checkups. If your child shows some signs of autism, you may be referred to a specialist in treating children with autism. This specialist, working with a team of professionals, can perform a formal evaluation for the disorder.

Because autism varies widely in severity and manifestations, making a diagnosis may be difficult. There isn't a specific medical test to pinpoint the disorder. Instead, a formal evaluation consists of an expert observing your child and talking to you about how your child's social skills, language skills and behavior have developed and changed over time. To help reach a diagnosis, your child may undergo a number of developmental tests covering speech, language and psychological issues.

Although the signs of autism often appear by 18 months, the diagnosis sometimes isn't made until age 2 or 3, when there may be more obvious delays in language development and social interactions. Early diagnosis is important because early intervention — preferably before age 3 — seems to be associated with the best chance for significant improvement.
Treatments and drugs

No cure exists for autism, and there is no "one-size-fits-all" treatment. In fact, the range of home-based and school-based treatments and interventions for autism can be overwhelming.

Your doctor can help identify resources in your area that may work for your child. Treatment options may include:

* Behavior and communication therapies. Many programs have been developed to address the range of social, language and behavioral difficulties associated with autism. Some programs focus on reducing problem behaviors and teaching new skills. Other programs focus on teaching children how to act in social situations or how to communicate better with other people. Though children don't outgrow autism, they may learn to function well with the disorder.
* Educational therapies. Children with autism often respond well to highly structured education programs. Successful programs often include a team of specialists and a variety of activities to improve social skills, communication and behavior. Preschool children who receive intensive, individualized behavioral interventions show good progress.
* Drug therapies. No medication can improve the core signs of autism, but certain medications can help control symptoms. Antidepressants may be prescribed for anxiety, for example, and antipsychotic drugs are sometimes used to treat severe behavioral problems.

Because autism is a devastating and so far incurable disease, many parents seek out alternative therapies. Though some families have reported good results with special diets and other complementary approaches, studies have not been able to confirm or deny the usefulness of these treatments. Some of the most common alternative therapies include:

* Creative therapies. Some parents choose to supplement educational and medical intervention with art therapy, music therapy or sensory integration, which focuses on reducing a child's sensitivity to touch or sound.
* Special diets. Several diet strategies have been suggested as possible treatments for autism, including restriction of food allergens; probiotics; a yeast-free diet; a gluten-free, casein-free diet; and dietary supplements such as vitamin A, vitamin C, vitamin B6 and magnesium, folic acid, vitamin B12 and omega-3 fatty acids. The diet that has been tried most extensively — and with the greatest anecdotal success — eliminates gluten — a protein found in most grains, including wheat — and casein (a milk protein). To learn more, talk to a registered dietitian with special expertise in autism.
* Chelation therapy. This treatment, which is recommended by some doctors and parents, is said to remove mercury from the body. But no studies have shown a link between mercury and autism, and chelation has not been shown to be a safe or effective treatment.

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Dupuytren's contracture

Dupuytren's contracture is an uncommon hand deformity in which the connective tissue under the skin of your palm contracts and toughens over time.

Knots of tissue form under the skin, eventually forming a thick cord that can pull one or more of your fingers into a bent position. Once this occurs, the fingers affected by Dupuytren's contracture bend normally but they can't be straightened completely, making it difficult to use your hand. Dupuytren's contracture can complicate everyday activities such as placing your hands in your pockets, putting on gloves or shaking hands.

Dupuytren's contracture is rarely painful, though sometimes the bumps of tissue on your palm can be sensitive to touch. Various treatments are available for Dupuytren's contracture to slow its progression and relieve your symptoms.


Dupuytren's contracture is a fairly common disorder of the fingers. It most often affects the ring or little finger, sometimes both, and often in both hands. Although the exact cause is unknown, it occurs most often in middle-aged, white men and is genetic in nature, meaning it runs in families. This condition is seven times more common in men than women. It is more common in men of Scandinavian, Irish, or Eastern European ancestry. Interestingly, the spread of the disease seems to follow the same pattern as the spread of Viking culture in ancient times. The disorder may occur suddenly but more commonly progresses slowly over a period of years. The disease usually doesn't cause symptoms until after the age of 40.

This guide will help you understand

* how Dupuytren's contracture develops
* how the disorder progresses, and how you can measure its progression
* what treatments are available

Anatomy

What part of the hand is affected?

The palm side of the hand contains many nerves, tendons, muscles, ligaments, and bones. This combination allows us to move the hand in many ways. The bones give our hand structure and form joints. Bones are attached to bones by ligaments. Muscles allow us to bend and straighten our joints. Muscles are attached to bones by tendons. Nerves stimulate the muscles to bend and straighten. Blood vessels carry needed oxygen, nutrients, and fuel to the muscles to allow them to work normally and heal when injured. Tendons and ligaments are connective tissue. Another type of connective tissue, called fascia, surrounds and separates the tendons and muscles of the hand.

Lying just under the palm is the palmar fascia, a thin sheet of connective tissue shaped somewhat like a triangle. This fascia covers the tendons of the palm of the hand and holds them in place. It also prevents the fingers from bending too far backward when pressure is placed against them. The fascia separates into thin bands of tissue at the fingers. These bands continue into the fingers where they wrap around the joints and bones. Dupuytren's contracture forms when the palmar fascia tightens, causing the fingers to bend.

The condition commonly first shows up as a thick nodule (knob) or a short cord in the palm of the hand, just below the ring finger. More nodules form, and the tissues thicken and shorten until the finger cannot be fully straightened. Dupuytren's contracture usually affects only the ring and little finger. The contracture spreads to the joints of the finger, which can become permanently immobilized.

Related Document: A Patient's Guide to Hand Anatomy

Causes

Why do I have this problem?

No one knows exactly what causes Dupuytren's contracture. The condition is rare in young people but becomes more common with age. When it appears at an early age, it usually progresses rapidly and is often very severe. The condition tends to progress more quickly in men than in women.

People who smoke have a greater risk of having Dupuytren's contracture. Heavy smokers who abuse alcohol are even more at risk. Recently, scientists have found a connection with the disease among people who have diabetes. It has not been determined whether or not work tasks can put a person at risk or speed the progression of the disease.

Symptoms

What does Dupuytren's contracture feel like?

Normally, we are able to control when we bend our fingers and how much. How much we flex our fingers determines how small an object we can hold and how tightly we can hold it. People lose this control as the disorder develops and the palmar fascia contracts, or tightens. This contracture is like extra scar tissue just under the skin. As the disorder progresses, the bending of the finger becomes more and more severe, which limits the motion of the finger.

Without treatment, the contracture can become so severe that you cannot straighten your finger, and eventually you may not be able to use your hand effectively. Because our fingers are slightly bent when our hand is relaxed, many people put up with the contracture for a long time. Patients with this condition usually seek medical advice for cosmetic reasons or the loss of use of their hand. At times, the nodules can be very painful. For this reason many patients are worried that something serious is wrong with their hand.

Diagnosis

How do doctors identify the problem?

Your doctor will ask you the history of your problem, such as how long you have had it, whether you've noticed it getting worse, and whether it has kept you from doing your daily activities. The doctor will then examine your hand and finger.

Your doctor can tell if you have a Dupuytren's contracture by looking at and feeling the palm of your hand and your fingers. Usually, special tests are unnecessary. Abnormal fascia will feel thick. Cords and small nodules in the fascia may be felt as small knots or thick bands under the skin. These nodules usually form first in the palm of the hand. As the disorder progresses, nodules form along the finger. These nodules can be felt through the skin, and you may have felt them yourself. Depending on the stage of the disorder, your finger may have started to contract, or bend.

The amount you are able to bend your finger is called flexion. The amount you are able to straighten the finger is called extension. Both are measured in degrees. Normally, the fingers will straighten out completely. This is considered zero degrees of flexion (no contracture). As the contracture causes your finger to bend more and more, you will lose the ability to completely straighten out the affected finger. How much of the ability to straighten out your finger you have lost is also measured in degrees.

Measurements taken at later follow-up visits will tell how well treatments are working or how fast the disorder is progressing. The progression of the disorder is unpredictable. Some patients have no problems for years, and then suddenly nodules will begin to grow and their finger will begin to contract.

The tabletop test may also done. The tabletop test will show if you can flatten your palm and fingers on a flat surface. You can follow the progression of the disorder by doing the tabletop test yourself. Your doctor will tell you what to look for and when you should return for a follow-up visit.

Treatment

What can be done for the condition?

There are two types of treatment for Dupuytren's contracture: surgical and nonsurgical. The best course of treatment is determined by how far the contractures have advanced.
Nonsurgical Treatment

In the early stages of this disorder, frequent examination and follow-up is recommended. Your doctor may inject cortisone into the painful nodules. Cortisone can be effective at temporarily easing pain and inflammation. Heat and stretching treatments given by a physical or occupational therapist may also be prescribed to control pain and to try to slow the progression of the contracture.

Treatment also consists of wearing a splint that keeps the finger straight. This splint is usually worn at night.

The nodules of Dupuytren's contracture are almost always limited to the hand. If you receive regular examinations and follow your doctor's advice, you may be able to slow the problems caused by this disorder. However, Dupuytren's contracture is known to progress, so surgery may be needed at some point to release the contracture and to prevent disability in your hand.
Surgery

No hard and fast rule exists as to when surgery is needed. Surgery is usually recommended when the joint at the knuckle of the finger reaches 30 degrees of flexion. When patients have severe problems and require surgery at a younger age, the problem often comes back later in life. When the problem comes back or causes severe contractures, surgeons may decide to fuse the individual finger joints together. In the worst case, amputation of the finger may be needed if the contracture restricts the nerves or blood supply to the finger.

Surgery for the main knuckle of the finger (at the base of the finger) has better long-term results than when the middle finger joint is tight. Tightness is more likely to return after surgery for the middle joint.

Tissue Release

The goal of tissue release surgery is to release the fibrous attachments between the palmar fascia and the tissues around it, thereby releasing the contracture. Once released, finger movement should be restored to normal. If the problem is not severe, it may be possible to free the contracture simply by cutting the cord under the skin. If the palmar fascia is more involved and more than one finger is bent, your surgeon may take out the whole sheet of fascia.

Palmar Fascia Removal

Removal of the entire palmar fascia will usually give a very good result. The cure is often permanent but depends a great deal on the success of doing the physical or occupational therapy as prescribed. Little ill effect is caused by removing the entire palmar fascia, although the fingers may bend backward slightly more than normal. If you decide to have this surgery, you must commit to doing the therapy needed to make your surgery as successful as possible.

Skin Graft Method

A skin graft may be needed if the skin surface has contracted so much that the finger cannot relax as it should and the palm cannot be stretched out flat. Surgeons graft skin from the wrist, elbow, or groin. The skin is grafted into the area near the incision to give the finger extra mobility for movement.

Related Document: A Patient's Guide to Dupuytren's Contracture Surgery

Rehabilitation

What should I expect after treatment?
Nonsurgical Rehabilitation

The ability of nonsurgical treatments to slow or actually reverse the contracture is not all that promising. The contracture usually requires surgery at some point. Heat, stretching, and a finger splint seem to help the most. These treatments may be directed by a physical or occupational therapist. Sessions may be scheduled for a few visits per week up for up to six weeks, but after that, you'll probably be instructed to continue using the splint and doing the stretches as part of a home program for several months.
After Surgery

Your hand will be bandaged with a well-padded dressing and a splint for support after surgery. Physical or occupational therapy sessions may be needed after surgery for up to six weeks. Visits will include heat treatments, soft tissue massage, and vigorous stretching. Therapy treatments after surgery can make the difference in a successful result after surgery.

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