Information on Down Syndrome, Autism and Epilepsy

DOWN SYNDROME

About Down Syndrome
You have probably seen people who have Down syndrome. They have certain physical features, such as a flatter face, upward slanting eyes, and sometimes a protruding tongue. They may have medical problems, too, such as heart defects. And they usually have some developmental delay, which means they may have trouble learning. But despite their challenges, children with Down syndrome can go to mainstream schools, make friends, enjoy life, and get jobs when they're older.


To understand why Down syndrome happens, you need to understand a little about chromosomes.
What's a chromosome?
They are thread-like structures within each cell and are made up of genes. Genes provide the information that determines everything about people, from hair colour to whether they are girls or boys.

Most people have 23 pairs of chromosomes, for a total of 46.

But a baby with Down syndrome has an extra chromosome (47 instead of 46) or one chromosome has an extra part. This extra genetic material causes problems with the way their bodies develop.

Health Problems Are Common
Babies with Down syndrome tend to develop more slowly than other babies do. They may start walking later than other babies. About half are born with heart defects, which means there is something different with the way their hearts developed. Usually, these problems can be corrected by surgery.

Some babies also may have problems in their stomachs or a blockage in their intestines that prevents them from digesting food properly. Kids with Down syndrome are more likely to get infections that affect their lungs and breathing. When they do get infections, they often last longer. They may have eye or ear problems or digestion problems like constipation. Some may develop leukaemia, a type of cancer. Each person with Down syndrome is different and may have one, several, or all of these problems.

There are many common features people with Down syndrome often have. In addition to the eyes and face, they may have small or misshapen ears, a large space between the big toe and the second toe, and a crease that goes across the palms of their hands. It's important to note, though, that not all people with Down syndrome look alike or have all these features.

Do a Lot of People Have Down Syndrome?
About one out of every 800 babies born has Down syndrome, no matter what race or nationality the parents are. It is not contagious, so you can't catch it from someone else. You are born with it. No one gets Down syndrome later in life.

We get our chromosomes from our mother and father. Of the 23 pairs of chromosomes - half are from your mother and half are from your father.

But doctors aren't sure why this chromosome problem happens to some babies. It's nothing the mum or dad did before the child was born. Anyone can have a baby with Down syndrome. But the older the mother, the greater the risk.

Is There a Cure?
At one time, most children with Down syndrome did not live past childhood. Many would often become sick from infections. Others would die from their heart problems or other problems they had at birth. Today, most of these health problems can be treated and most children who have it will grow into adulthood.

Medicines can help with infections and surgery can correct heart, stomach, and intestinal problems. If the person gets leukaemia, there are medical treatments that can be very successful. Someone with Down syndrome has a good chance of living to be 50 years old or more.

But there is no cure for Down syndrome. It is something a person will have all of his or her life. But scientists continue to do research in the hope of finding ways to prevent Down syndrome or at least improve the health and lives of people who have it.

What's Life Like for Children With Down Syndrome?
Many children with Down syndrome go to mainstream schools. Some need specialist teaching to help them in areas where they have more trouble learning. Their parents work with teachers and others to come up with a plan for the best way for each child to learn. Children with Down syndrome like their playtime, too. They play sports and participate in activities, such as music lessons or dance classes.

Because they look different, some children may tease or bully children who have Down syndrome. But these children have feelings just like anybody else. When they are teased, it hurts their feelings. They want to be accepted and have friends. If you are a child and you know someone with Down syndrome, you can be a big help by not teasing him or her. Instead, offer a helping hand and a friendly word of encouragement. If you are an adult and you know someone who has a child with Down Syndrome, don't treat them as if they are to be pitied. They love their children and get as much enjoyment from them as you do yours. Most importantly, treat people with Down Syndrome as individuals. When people found out Charlie had Down Syndrome, it was amazing how many launched into the "They're so loving...They're so happy...They're such lovely children!" speech. But Charlie isn't 'they', he's 'Charlie'! He has his own personality, his own disposition, his own quirkiness. He is an individual. And I love him for who he is, not the condition he has.




AUTISM

What Does Autism Mean?
Autism causes children to experience the world differently from the way most other children do. It's hard for people with autism to talk with other people and express themselves using words. Some people who have autism keep to themselves and many can't communicate without special help.

They also may react to what's going on around them in unusual ways. Normal sounds may really bother someone with autism — so much so that the person covers his or her ears. Being touched, even in a gentle way, may feel uncomfortable.

Children with autism often can't make connections that other kids make easily. For example, when someone smiles, you
know the smiling person is happy or being friendly. But a child with autism may have trouble connecting that smile with the person's happy feelings.

A child who has autism also has trouble linking words with their meanings. Imagine trying to understand what someone is saying if you didn't know what their words really meant. It is doubly frustrating then if a child can't come up with the right words to express his or her own thoughts.

Autism causes children to act in unusual ways. They might flap their hands, say certain words over and over, have temper tantrums, or play only with one particular toy. Most kids with autism don't like changes in routines. They like to stay on a schedule that is always the same. They also may insist that their toys or other objects be arranged a certain way and get upset if these items are moved or disturbed.

If someone has autism, his or her brain has trouble with an important job: making sense of the world. Every day, your brain interprets the sights, sounds, smells, and other sensations that you experience. If your brain couldn't help you understand these things, you would have trouble functioning, talking, going to work or school, and doing other everyday things. People can be mildly affected by autism, so that they only have a little trouble in life, or they can be very affected, so that they need a lot of help.

What Causes Autism?
Autism affects about 1 in every 150 people, but no one knows what causes it. Some scientists think that some children might be more likely to get autism because it or similar disorders run in their families. Knowing the exact cause of autism is hard because the human brain is very complicated.

The brain contains over 100 billion nerve cells called neurons. Each neuron may have hundreds or thousands of connections to other nerve cells in the brain and body. The connections (which are made by releasing neurotransmitters) let different neurons in different areas of the brain — areas that help you see, feel, move, remember, and much more — work together.

For some reason, some of the cells and connections in the brain of a child with autism — especially those that affect communication, emotions, and senses — don't develop properly or get damaged. Scientists are still trying to understand how and why this happens.

What Do Doctors Do?
Finding out if a child has autism can be difficult. A parent is usually the first to suspect that something is wrong. Maybe the child is old enough to speak but doesn't, doesn't seem interested in people, or behaves in other unusual ways. But autism isn't the only problem that can cause these kinds of symptoms. For example, children who have hearing problems may have trouble speaking, too.

Usually, lab tests and other medical tests are normal in children with autism, but doctors may do them to make sure the child doesn't have other problems. These medical tests may include blood and urine tests, a hearing exam, an EEG (a test to measure brain waves), and an MRI (a picture that shows the structure of the brain). Intelligence (IQ) tests also may be done.

Often, specialists work together as a team to figure out what is wrong. The team might include a paediatrician, a paediatric neurologist, a child psychiatrist, a child psychologist, speech and language therapists, and others. The team members study how the child plays, learns, communicates, and behaves. The team should listen carefully to what parents have noticed, too. Using the information they've gathered, doctors can decide whether a child has autism or another problem.

How Is Autism Treated?
There is no cure for autism, but doctors, therapists, and special teachers can help people with autism overcome or adjust to many difficulties. The earlier a child starts treatment for autism, the better.

Different children need different kinds of help, but learning how to communicate is always an important first step. Spoken language can be hard for kids with autism to learn. Most understand words better by seeing them, so therapists teach them how to communicate by pointing or using pictures or sign language. That makes learning other things easier, and eventually, many children with autism learn to talk fluently.

Therapists also help children learn social skills, such as how to greet people, wait for a turn, and follow directions. Some children need special help with living skills (like brushing teeth or making a bed). Others have trouble sitting still or controlling their tempers and need therapy to help them control their behavior. Some children take medications to help their moods and behaviour, but there's no medicine for autism.

Students with mild autism sometimes can go to mainstream school. But many children with autism need calmer, more orderly surroundings. They also need teachers trained to understand the problems they have with communicating and learning. They may learn at home or in classes at special or private schools.

Living With Autism
Some children with mild autism will grow up and be able to live on their own. Those with more serious problems will always need some kind of help. But all children with autism have brighter futures when they have the support and understanding of doctors, teachers, caregivers, parents, brothers, sisters, and friends.


EPILEPSY

About Epilepsy

Epilepsy is a nervous system condition that causes electrical signals in the brain to misfire. These disruptions cause temporary communication problems between nerve cells, leading to seizures. One seizure is not considered epilepsy — kids with epilepsy have multiple seizures over a period of time.

Epilepsy:

* is not the only cause of childhood seizures
* is not a mental illness
* does not usually affect intelligence
* is not contagious
* does not typically worsen over time

Causes of Epilepsy

In about half the cases of epilepsy, there is an identifiable cause. These include:

* infectious illness (such as meningitis or encephalitis)
* brain malformation during pregnancy
* trauma to the brain (including lack of oxygen) during birth or an accident
* underlying metabolic disorders
* brain tumors
* blood vessel malformation
* strokes
* chromosome disorders

The other half of epilepsy cases are idiopathic (the cause is unknown). In some of these, there may be a family history of epilepsy — a child who has a parent or other close family member with the condition is more likely to have it too. Researchers are working to determine what specific genetic factors are responsible.

Understanding Seizures
Seizures vary in severity, frequency, and duration (they typically last from a few seconds to several minutes). There are many different kinds of seizures, and what occurs during one depends on where in the brain the electrical signals are disrupted.

The two main categories of seizures are generalized seizures, which involve the whole brain, and partial seizures, which involve only part of the brain. Some people with epilepsy experience both kinds.

Seizures can be scary — a child may lose consciousness or jerk or thrash violently. Milder seizures may leave a child confused or unaware of his or her surroundings. Some seizures are so small that only an experienced eye could detect them — a child may simply blink or stare into space for a moment before resuming normal activity.

During a seizure, it's very important to stay calm and keep your child safe. Be sure to:

Lay your child down away from furniture, stairs, or radiators.
Put something soft under his or her head.
Turn your child on his or her side so fluid in the mouth can come out.
Never stick anything in your child's mouth or try to restrain him or her.
Do your best to note how often the seizures take place, what happens during them, and how long they last and report this to your doctor. Once a seizure is over, watch your child for signs of confusion. He or she may want to sleep and you should allow that. Do not give extra medication unless the doctor has prescribed it.

Children who suffer from partial seizures may be frightened or confused by what has happened. Offer plenty of comfort and reassure your child that you're there and everything is OK.

Most seizures are not life-threatening, but if one lasts longer than 5 minutes or your child seems to have trouble breathing afterward, call 999 for immediate medical attention.

Diagnosis
Talk to your doctor if your child has seizures, staring spells, confusion spells, shaking spells, or unexplained deterioration of school performance. The doctor can refer you to a paediatric neurologist, who will take a patient medical history and examine your child, looking for findings that suggest problems with the brain and the rest of the neurologic system.

If the doctor suspects epilepsy, tests will be ordered, which may include:

1) electroencephalography (EEG), which measures electrical activity in the brain via sensors secured to the scalp while the child lays on a bed. It is a painless test, which takes about 1 hour.
2) a magnetic resonance imaging (MRI) test
3) a computerised tomography (CT) scan, both of which look at images of the brain

Treating Epilepsy
Your doctor will use the test and exam results to determine the best form of treatment. Medication to prevent seizures is usually the first type of treatment prescribed for epilepsy management. Many children can be successfully treated with one medication — and if the first doesn't work, the doctor will usually try a second or even a third before resorting to combinations of medications.

Although medications often work, if your child is unresponsive after the second or third attempts, it's less likely that subsequent medications will be effective. In this case, surgery to remove the affected part of the brain may be necessary. Epilepsy surgery is done in less than 10% of seizure patients, and only after an extensive screening and evaluation process.

Additional treatments can be used for epilepsy that is unresponsive to medications. The doctor may implant a vagus nerve stimulator in the neck, or recommend a ketogenic diet, a high-protein, high-fat, low-carbohydrate diet that can be very successful in helping to manage seizures.

Even people who respond successfully to medication sometimes have seizures (called "breakthrough seizures"). These don't mean your child's medication needs to be changed, although you should let the doctor know when they occur.

Living With Epilepsy
To help prevent seizures, make sure your child:

* takes medication(s) as prescribed
* avoids triggers (such as fever and overtiredness)
* sees the neurologist as recommended — about two to four times a year — even if responding well to medication

Keeping your child well-fed, well-rested, and non-stressed are all key factors that can help manage epilepsy. You should also take common-sense precautions based on how well-controlled the epilepsy is. For example:

* Younger children should have only supervised baths.
* Swimming or bike-riding alone are not good ideas for kids with epilepsy. A helmet is required for cycling, as for all kids.

With some simple safety precautions, your child should be able to play, participate in sports or other activities, and generally do what other children like to do. Teenagers with epilepsy will probably be able to drive with some restrictions, as long as the seizures are controlled.

It's important to make sure that other adults who care for your child — family members, babysitters, teachers, coaches, etc. — know that your child has epilepsy, understand the condition, and know what to do in the event of a seizure.

Offer your child plenty of support, discuss epilepsy openly, and answer questions honestly. Children with epilepsy may be embarrassed about the seizures, or worry about having one at school or with friends.