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Rett Syndrome: The Little Girl’s Disease Nobody Knows

Rett syndrome is a rare genetic disorder that affects brain development, resulting in severe mental and physical disability.

It is estimated to affect about 1 in 12,000 girls born each year and is only rarely seen in males.

This page covers:

Signs and symptoms

Some children with Rett syndrome are affected more severely than others. Also, the age at which symptoms first appear varies from child to child.

A child with Rett syndrome may not have every symptom listed below, and their symptoms can change as they get older.

Rett syndrome is described in four stages, although symptoms will often overlap between each stage. The main features of each stage are described below.

Stage One: Early Signs

At first, the child will appear to develop and grow normally for at least six months, although (especially with hindsight) there may be subtle signs of Rett syndrome before the child is recognized as having a problem.

Stage one is sometimes described as ‘stagnation’ because the child’s development slows down or stops altogether. Symptoms include:

  • low muscle tone (hypotonia)
  • difficulty feeding
  • unusual, repetitive hand movements or jerky limb movements
  • delay with development of speech
  • mobility problems, such as problems sitting, crawling and walking
  • lack of interest in toys

These symptoms typically begin during the period from six to 18 months of life and often last for several months, although they can persist for a year or more.

Stage one can often go unnoticed by the child’s parents and by healthcare professionals because the changes occur gradually and may be subtle.

Stage Two: Regression

During stage two, known as ‘regression’ or the ‘rapid destructive stage’, the child starts to lose some of their abilities. This stage usually begins between the ages of one and four and may last for any time from two months to more than two years.

The child will gradually or suddenly start to develop severe problems with communication and language, memory, hand use, mobility, co-ordination and other brain functions. Some of the characteristics and behaviours are similar to those of autism spectrum disorder.

Signs at this stage include:

  • loss of the ability to use the hands purposefully – repetitive hand movements are often difficult to control and include wringing, washing, clapping or tapping
  • periods of distress, irritability and sometimes screaming for no obvious reason
  • social withdrawal – a loss of interest in people and avoidance of eye contact
  • unsteadiness and awkwardness when walking
  • problems sleeping
  • slowing of head growth
  • difficulty eating, chewing or swallowing, and sometimes constipation that may cause tummy aches

Later on during regression, the child may experience periods of rapid breathing (hyperventilation) or slow breathing, including breath-holding. They may also swallow air which can lead to abdominal bloating.

Stage Three: Plateau

Stage three of Rett syndrome can begin as early as two years of age or as late as 10 years of age. It often lasts for many years, with many girls remaining in this stage for most of their lives.

During stage three, some of the problems that occurred at stage two may get better – for example, there may be improvements in behaviour, with less irritability and crying.

The child may become more interested in people and their surroundings, and there may be improvements in alertness, attention span and communication. Their walking ability may also improve (or they may learn to walk, if they were previously unable to do so).

On the downside, problems that can arise during stage three include:

  • seizures, which become more common
  • irregular breathing patterns may get worse – for example, shallow breathing followed by rapid, deep breathing, or breath holding
  • teeth grinding
  • some children may develop heart rhythm abnormalities (arrhythmias)

Gaining and maintaining weight can also be difficult to achieve.

Stage Four: Deterioration In Movement

Stage four can last for years or even decades. The main symptoms at this stage are:

  • development of a spinal curve (the spine bending to the left or right side), known as scoliosis
  • muscle weakness and spasticity (abnormal stiffness, particularly in the legs)
  • losing the ability to walk

Communication, language skills and brain function don’t tend to get any worse during stage four. The repetitive hand movements may decrease and eye gaze usually improves.

Seizures also usually become less of a problem during adolescence and early adult life, although they will often be a lifelong problem to manage.

What causes Rett syndrome?

Almost all cases of Rett syndrome are caused by a mutation (a change in the DNA) in the MECP2 gene, which is found on the X chromosome (one of the sex chromosomes).

The MECP2 gene contains instructions for producing a particular protein (MeCP2), which is needed for brain development. The gene abnormality prevents nerve cells in the brain from working properly.

There’s usually no family history of Rett syndrome, which means it isn’t passed on from one generation to the next. Almost all cases (over 99%) are spontaneous, with the mutation occurring randomly. This is known as a ‘de novo’ mutation.

Diagnosing Rett syndrome

Rett syndrome is usually diagnosed based on your child’s symptoms, and by ruling out other more common disorders.

A diagnosis of Rett syndrome may not be made for a number of years because the syndrome is so rare and symptoms don’t tend to appear until a child is between six and 18 months old.

A genetic blood test can be used to identify the genetic mutation responsible for Rett syndrome (although it isn’t found in every child with the syndrome). If a change is found in the MECP2 gene, it can help confirm the diagnosis, but failing to find it doesn’t necessarily rule out the syndrome.

Read more about genetic testing.

Managing Rett syndrome

There’s no cure for Rett syndrome, so treatment focuses on managing the symptoms.

As a parent caring for a child with the syndrome, it’s likely you’ll need help and support from a wide range of healthcare professionals.

Your child may benefit from some of the following treatments and aids:

  • speech and language therapy, picture boards, eye gaze technology and other visual aids to help with communication
  • medication for breathing and mobility problems, and anti-epileptic medicine to control seizures
  • physiotherapy, attention to mobility, careful attention to your child’s sitting posture (to minimize the chances of scoliosis developing), and frequent changes in posture
  • if scoliosis does become established, a back brace and sometimes spinal surgery may be used to prevent the spine curving further (read more about treating scoliosis)
  • a high-calorie diet to help maintain sufficient weight, with the use of a feeding tube and other feeding aids if necessary
  • occupational therapy to help develop the skills needed for dressing, feeding and other daily activities
  • an ankle-foot orthosis (lower leg brace) to help them walk independently
  • a hand splint to help control hand movements, if these are severe (they’re mainly used for limited periods to prevent self-injury or to encourage activities with the other hand)
  • beta-blocker medication or a pacemaker to control their heart rhythm

Therapeutic horse riding, swimming, hydrotherapy and music therapy have also been reported to be beneficial. Ask your healthcare team where you can access these therapies.

Read more about caring for a disabled child and care equipment, aids and adaptations.

Outlook

Although some people with Rett syndrome may retain a degree of hand control, walking ability and communication skills, most will be dependent on 24-hour care throughout their lives.

Many people with Rett syndrome reach adulthood, and those who are less severely affected can live into old age. However, some people die at a fairly young age as a result of complications, such as heart rhythm abnormalities, pneumonia and epilepsy.

Advice for carers (*caregivers)

Caring for a child with Rett syndrome is mentally and physically challenging. Most carers will need social and psychological support.

Your guide to care and support** (for our UK readers) provides lots of information and advice about how you can take time to look after yourself, including:

You may also find it useful to contact a support group, such as Rett UK** for information and advice about looking after a child with the syndrome.

National Congenital Anomaly and Rare Diseases Registration Service

If your child has Rett syndrome, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).**

This helps scientists look for better ways to treat and prevent the syndrome. You can opt out of the register at any time.

Editor’s Note: *clarification provided for our US readers.

OCTOBER IS RETT SYNDROME AWARENESS MONTH!

** Resources in the United States

For more information and to donate to Rett Syndrome research:

Meet Miss Maddie!  Madelyne Rae was diagnosed with Rett Syndrome on January 17, 2017. She was 27 months old at that time. Since her diagnosis Maddie has had several hospital stays for seizures, metabolic acidosis and for feeding tube placement. Maddie recently celebrated her third birthday! She’s learning to communicate using an eye-gaze, speech-generating device called a Tobii Dynavox. She stays active with her adaptive bicycle and goes to school full-time.

 

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From www.nhs.uk





Video: Common Questions About Kids and Chickenpox

Chickenpox is a common childhood illness. But what steps should you take to look after someone who catches it? In this video Dr Rishi Duggal explains what to do if you or your children get chickenpox, and when to get urgent medical advice.

Editor’s Note: Video Highlights

The main symptom is the rash – it can occur in 3 main stages:

  • Stage 1: red spots on face or chest
  • Stage 2: after a couple of hours to a day, spots spread to other parts of body – spots can form fluid filled blisters, very itchy
  • Stage 3: these form scabs or crust – can take several weeks to fall off

How to treat it?

  • Can manage pain with paracetamol (*acetaminophen)
    • Avoid ibuprofen with chickenpox as some may have bad reactions to this
  • Calamine lotions and cremes/gels can help soothe the skin
  • Make sure you’re well hydrated
  • Keep your child out of school and if it’s you, stay away from work

How do you catch it?

  • Chickenpox is HIGHLY contagious – really easy to spread:
    • Through droplets infected person has breathed, sneezed or coughed out
    • Through contact with fluid from blisters
    • Even being in same room with someone for 15 mins who has chicken pox

When to get help

  • Contact your GP (*doctor) or NHS 111 if:
    • You’re not sure if you or your child has it
    • Your baby is less than 4 weeks old and has it
    • If you’re pregnant or have a weakened immune system
    • If your symptoms aren’t improving after a week
  • In rare situations your skin can become red or swollen and even more rare, you can find it difficult to breathe.  Seek urgent advice.

Editor’s Note: *clarification provided for our US readers.





How to Help Your Child Live With Kidney Disease

Having kidney disease affects children in many ways. They may need to take medicines and alter their diet, and can also face challenges at school.

It’s only natural to worry if you have a child with kidney disease. Parents often have questions about their child’s health. We answer some of the most common ones.

It can be helpful for parents to talk to members of the renal team, such as the social worker or clinical psychologist. Other parents and patient support groups may also be able to help.

Can I give a kidney to my child?

As a parent, your first instinct may be to deal with your child’s condition by giving them one of your kidneys. Around half of all kidney transplants carried out are now from living donors.

Living organ donation usually involves one family member donating an organ to another family member or a partner. The relative is usually blood related – a parent, brother, sister or child. It’s possible for a healthy person to lead a completely normal life with only one working kidney.

Considering donating a kidney is a big step. It’s major surgery, and will only go ahead once strict rules are met and after a thorough process of assessment and discussion. Talk to your child’s renal team if you want to explore whether donation could be an option for you and your child.

Will my child grow normally?

The kidneys play an important role in a child’s growth, so children with kidney disease may not grow as well as their peers. To make the problem worse, their illness can make them feel sick, alter their sense of taste and reduce their appetite.

How to help

It’s important to make sure that children with kidney disease get enough nutrition. Talk to your child’s doctor about ways to help boost growth. Taking supplements and limiting certain foods while eating more fats and carbohydrates to increase calorie intake can help. Some children benefit from injections of growth hormone.

Will my child have a problem making friends?

Children with kidney disease can have trouble making friends and fitting in with children of their own age. This can be because they miss time off school.

It can also be because of a child’s natural concern that their kidney disease makes them different from other children. Children can lack confidence if they’re small for their age and their appearance has changed (for example, if they are bloated) as a result of their condition and its treatment.

How to help

Find ways to encourage your child to meet other children and make friends. They can meet other children through nurseries, playgroups, school and after-school clubs. Having children over for tea and sleepovers and, in the case of older children, using social networking sites, such as Facebook, can help encourage them to make friends.

Will my child have difficulties at school?

Kidney disease itself doesn’t usually cause problems with learning, but children who have had kidney disease from a young age may spend so much time in hospital that they struggle with schoolwork. They usually catch up as they get older.

How to help

If your child misses school, do all you can to help them with their schoolwork. Talk to their teachers as early as possible to make a homework plan that your child can get on with while they’re in hospital.

  • Make sure your child is getting as much extra educational support as possible from the school. The hospital teachers can also help and advise you.
  • If you have concerns about your child’s development or learning, talk to your child’s school.

Read more about how to talk to the school about your child’s health condition.

Should children with kidney disease do sport?

It’s tempting to be overprotective of a sick child. In general, sport and exercise is great for children with kidney disease. But bear in mind that they may get tired more easily than their friends and classmates.

How to help

Encourage your child to do all the activities their friends do. If your child is on dialysis, swimming might not be possible. In some cases, particularly after a kidney transplant, children should also avoid contact sports. Otherwise, they can safely take part in most sports.

What if my child refuses their medicine?

Taking medicines is part of life for most children and young people with kidney disease. They can find this a strain and may stop taking their medicines.

How to help

  • Try to work out why they don’t want to take their medicines. Children, especially teenagers, may stop taking their medicines because they can cause unflattering changes in appearance.
  • Talk to them about why taking their medicines is important for their health and what will happen if they don’t. Be careful not to scare your child into taking their medicines.
  • Explaining to older children and teenagers why they need to be responsible for taking their own medicines can make them more likely to keep taking their tablets.
  • It can also help to involve the renal team that’s looking after your child, as they will have lots of experience of tackling this problem with other children and young people.
  • It’s very important that you let the renal team know immediately if you think your child isn’t taking their medicines.

Who can my child talk to about kidney disease?

All children’s kidney teams have different professionals on hand to chat to your child. These include doctors, nurses, psychologists, social workers, play specialists, teachers and some youth workers.

How to help

Arrange for your child to talk to a member of the kidney team. It can also help if they meet a young adult who had chronic kidney disease during childhood, or another child of their own age. You can find contacts through your doctor, local support group, or the British Kidney Patient Association (BKPA)**.

How do I explain kidney disease to my other children?

Brothers and sisters of children with kidney disease may feel left out and worried. They need time with you to talk over their worries and feel part of the overall plan.

How to help

Your child’s kidney team is there to help the whole family. Ask the play specialist, psychologist or social worker to spend time talking to your child’s brothers and sisters and answering their questions.

Editor’s Note: *clarification provided for our US readers.

** Resources in the United States, the National Kidney Foundation  and the American Kidney Fund





Video: Is Your Child’s Rash Fifth Disease and Should You Worry?

In this video Dr. Rob Hicks, a general practitioner (GP) or family physician, briefly describes Fifth Disease or “Slapped Cheek Syndrome,” and how you can tell this rash apart from other more concerning illnesses.

Editor’s Note: Video Highlights

  • child-fifth diseaseFifth Disease – or “slapped cheek syndrome” is a viral infection, caused by the virus, parvovirus B19
  • It is spread in the air when we cough or laugh, when we sneeze, or in saliva and air droplets when we’re in close contact
  • It is most commonly children who get it – usually between the age of four and 12 – and can spread very rapidly throughout a classroom or school
  • The symptoms to look out for are generally those of a common cold,so sneezing, runny nose, sore throat, headache, fever.
  • But the characteristic of this infection is the rash – the blotchy red rash on one or both cheeks that gives the slapped cheek appearance
  • The rash can remain on the face, but could spread to the rest of the body,including the palms of the hands and the soles of the feet
  • Generally, it’s not painful but it might be irritating for some
  • Unlike the worrying rash of meningitis, if you press this rash it will fade
  • Symptoms are often mild and parents should follow the usual management of any viral infection,
    • Plenty of rest and plenty of fluids
    • For sore throats or a high temperature children’s paracetamol (acetaminophen) or ibuprofen is perfectly reasonable
  • If you’re not sure have a word with a pharmacist or with your doctor
  • The people who need to be concerned are pregnant women – if you get the infection in early pregnancy and you’ve not had it before it can increase the risk of miscarriage





Childhood Illnesses – Are We Winning The Battle?

As with any illness, it is best to prevent than to treat.  Our progress in battling some devastating childhood illnesses over the years has centered on the introduction and efficiency of our existing vaccines and effective preventive medications.

One of the first notable vaccines was that produced to prevent paralytic polio.   Early on this was an oral vaccine and we (of a certain age) can remember the sugar cubes given out in school followed in rapid order by oral and then injectable types of the vaccine. These obviously were very effective in eliminating the most dreaded form of polio- that which produced paralysis in children and young adults.  Again, some of us remember trying to fall asleep at night thinking of that terrible disease and the pictures of “iron lungs” (a type of whole-body respirator) lined up in the hallways of hospitals.  There was no treatment and as of today there is still no treatment.  However the severe clinical outcome has been erased.  Polio virus is still around today and is not uncommon but is such a mild illness that affected people may not even realize they might have it. (Very similar to many of our common every day illnesses)

Many of us also remember smallpox vaccine that left a puckered, stippled scar on the top of our shoulders.  As it began disappearing from the US due also to better and newer isolation techniques, it was noticed that there were more bothersome reactions than actual cases of small pox in this country.   Also worldwide there were fewer and fewer outbreaks that became controllable with the above mentioned isolation techniques.  Smallpox vaccine was discontinued.

With the advent of improved TB testing and effective medicines, a vaccine became unnecessary although the disease still exists, it is controllable and treatable.

Measles, mumps and German measles used to take its toll on primitive peoples of the world until there were effective vaccines that prevented the illnesses and sometimes the birth defects that would arise in babies born to women who had had German measles during pregnancy.

Hemophilus influenza is a common bacterium causing some illnesses in this country and around the world but the most dreaded of these was a virulent kind of meningitis (infection of the covering of the brain and spinal cord, leading to some life-long neurologic deficits in children and even death).  While I was in my training to become a Pediatrician a vaccine was developed to eradicate this illness and within a very short time the incidence of hemophilus meningitis dropped severely – today it is a rarity.

More recently we have seen the development of effective and efficient vaccines to help prevent influenza, chickenpox, hepatitis, meningitis, rabies, and the list is constantly increasing (this is not a complete list).  Along with this ongoing effort is the continued development of medications to help treat the rare illnesses that still crop up occasionally.

The bottom line is that we have many weapons at our disposal to defeat our viral and bacterial contagious diseases in children and adults but those who ignore the value of immunizations at an early age are not only placing their own children at risk but the childhood and adult population of the entire country.  Many of these illnesses are highly contagious and infectious but we must all work together to control and hopefully eventually eradicate these deadly microscopic enemies.

Video: How Big a Concern is Fever and Vomiting in Children?

In this short video, Dr Rupal Shah explains how to tell if your child’s fever and vomiting are a sign of a serious illness requiring medical attention or the result of a common virus with no cause for alarm.

Editor’s Note: Video Highlights

  • Fever and vomiting are common symptoms in childhood and there are many possible causes
  • fever-and-vomiting-in-kidsThe most important thing to consider is how well your child appears to be….
    • For example, if they’re quite drowsy and floppy or if they’re not eating, then there’s a higher chance that they could be seriously ill with a nasty infection and you should see your doctor
    • If your child appears fairly well and is still eating and drinking, is still playing and interested in their environment, then it’s less likely they are suffering from a serious illness
  • Also, if your child isn’t managing to tolerate any fluids you should take them to the doctor, since children get dehydrated quite easily
  • Fever and vomiting can be caused by fairly common viral illness, like a rotavirus infection – or tummy bug – and generally the child is relatively well and cheerful despite throwing up at times
  • However, there are more serious causes of fever and vomiting – ranging from a bladder infection all the way to meningitis
  • If you’re worried that your child is less responsive, more floppy, not themselves – then it’s always worth seeking urgent medical help





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