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Working with girls and women who have Rett Syndrome can be a unique and wonderful experience. Rett Syndrome is a neurological condition that effects only girls (with a few, rare exceptions). Although it varies in presentation from girl to girl, in general, those with Rett Syndrome are primarily alternative communicators, they present with hand wringing or similar movements and they tend to have amazing eye contact and eye pointing skills. Most of the girls are very motivated by music and music can be an ideal teaching modality. About half use wheelchairs for all mobility. Most have seizures, have swallowing difficulties and have issues with unintentional breath holding. Sleep disorders are common as are certain lung and heart issues. Rett Syndrome used to be considered a form of autism, but it is, in fact, a specific genetic condition.

Girls with Rett Syndrome used to be automatically assumed to have very severe to profound developmental and intellectual disabilities. However, as more and more people are willing to practice the least dangerous assumption and presume competence and as technology has evolved to include somewhat affordable eye tracking based alternative communication systems we are finding that many, if not most, girls with Rett Syndrome have been dramatically underestimated and, sometimes, educationally neglected.

Here are just a few tips for working with girls and women who have Rett Syndrome in our classrooms and in other educational settings.

Bringing the hands to mid-line (the center of the body) is one of the key diagnostic features of Rett Syndrome. This can be hand washing movements, hand clenching, hand mouthing or clapping. The girls cannot control this movement, in fact, an attempt to control this movement may be distressing and thus increase it. Therefore, rethink hand use goals.

hand wringing and related stereotypies are a hallmark of Rett Syndrome functional hand use is occasionally possible for some girls with Rett Syndrome, however, as a general rule goals that work towards hand use should be rethought.

such goals are likely to be lead to frustration for the girls and for staff. Whatever energy or effort the girls must put forth to meet such goals will be a heroic effort in battling a symptom of Rett Syndrome, it is unfair to ask her to do this while doing other important things - like learning

look through your IEP. If any of the goals for communication, life skills or academics call for the girl to use her hands especially using her hands in a very specific way look for other ways to meet the goals. Consider eye gaze from communication, switches with a head or foot movement for activating adapted items and generally adapting the environment to be accessed without hand us

it is ok to have her use her hands, to encourage her to use her hands, but having it be the goal may not be best overall

some girls do have more hand use than others, a few can hold a cup or spoon or even activate a device, but consider the effort required overall as you decide what to spend energy on

Remember what apraxia (a key component of Rett) is:

a inability to perform a task, especially speech even though:

the request is understood

there is willingness to do the task

the muscles work properly

the task may have already been learned

This means

you can't assume a Rett girl doesn't understand, is "acting out" or "refusing", is physically incapable or that she has forgotten what she has learned

you can assume that the more the girl wants to do or say something the harder it will be and she is inevitably more frustrated than you are

the girl with Rett will be consistently inconsistent, not because of intelligence or behavior but because of apraxia

a burst of strong emotion may override apraxia

Also since you can't measure her knowledge fully because of the combination hand stereoypies and apraxia of speech, even using high technology, you must assume that she is competent to avoid causing an developmental disability through educational neglect

Anxiety severely affects girls with Rett

Anxiety is a massive issue in Rett Syndrome. The girls are often times unable to communicate their anxiety or ask questions to clarify situations which may be causing anxiety.

Anxiety can present as increased stereotypies like tooth grinding, hand mouthing, breath holding and other behaviors; it can also present as shutting down (closing eyes, appearing sleepy) or with crying or yelling. Very rarely, some girls may hit their heads, bite their hands or otherwise hurt themselves.

Teachers and therapists should seek to create a low stress, low anxiety enviroment by

explaining changes in the environment, in staffing, in anything that can cause stress

teaching about emotions and how to communicate about them

ensuring the girls have the words to talk about anxiety

using social stories to teach about how to decrease anxiety and to prepare the girls for difficult situations

be aware of what your students particular anxiety markers are and intervene at the first sign

know what music, sensory experiences and people your student finds calming and have them available, give the girl a way to ask for these things

Eyes are usually the best means of communication

Although a few girls can speak some words and a few others can use their hands or switches to activate augmentative communication devices most girls do best when using eye gaze as a way to communicate

Start evaluation for high technology eye gaze communication system early, at diagnosis or between nine months of age and two years, if possible

there are no prerequisites for high technology eye gaze based communication, girls do not need to use low technology eye gazed interventions first, they do not have to master PECS or picture symbols first.

all of the best practices of Augmentative and Alternative Communication apply to eye gaze such as: implementation of a robust vocabulary, intensive and ongoing aided language stimulation and implementation across all environments

Trying a high technology eye gaze system

Be sure you work with a company representative and/or AAC specialist who is knowledgeable about both Rett Syndrome and eye gaze tracking technologies, but if there is no one available still proceed with trying high technology eye gaze systems

Explain to the girl well ahead of time and more than once what a high technology eye gaze system is and what it is for, show videos of other girls using such devices

Schedule the demo and trial of the system for when the girl is usually most alert, for most girls this is the morning

Do not have the girl present for the boring set up or "how this works" session with the company representative, do not bring her in until you are ready for her to start using the system!

Do NOT waste time trying to calibrate the device when the girl arrives, calibration has no built in rewards and is hard to understand why is it useful from the girls perspective. It tends to cause the girls anxiety. Have the rep turn on a fun sensory activity for the girl to try with her eyes. She will likely "get it" right away. Move from there into a communication activity with a large targets and a big pay off (something exciting happens when the buttons are activated even if that something exciting is you doing what the girl tells you - sing, dance, jump). At this point the girl may be tired. Take her cues. Stop before she has any sense of failure. At the next visit move through the same sequence more quickly and then try calibrating. Rarely after two or three sessions when the girl is awake and feeling well is there then not enough evidence to get a month long trial of a system for further evaluation.

Literacy is a human right! Rett Girls can read!

start teaching girls with Rett Syndrome letters, letters sounds, letter blending and word segmenting along the same time line as typical peers but,

if the girl is older it isn't too late, start now,

reading and spelling is being accomplished by girls and women with Rett Syndrome everyday, be a part of this reading revolution and teaching reading and spelling now

Music as motivation

girls with Rett Syndrome can be very motivated by music and may be more able to learn when music is involved

consider music therapy and work to have it consist of more than cause and effect activities and listening to music, many girls are able to contribute to writing lyrics to music using there speech devices and many find music a way to relieve anxiety and express emotions

use music and music videos to teach key concepts, you can find a music video for just about any educational concept on YouTube!

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Working with girls and women who have Rett Syndrome can be a unique and wonderful experience. Rett Syndrome is a neurological condition that effects only girls (with a few, rare exceptions).

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Living with Rett Syndrome | Cincinnati Children's

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What is Rett Syndrome? - International Rett Syndrome Foundation

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Rett syndrome is a rare, severe, and progressive disorder that affects mostly girls. It can impact your child's ability to speak, walk, eat, or breathe easily.

Parents or doctors usually notice signs of Rett syndrome in the first 2 years of a child's life. If your child has it, it's common for them to miss key milestones in development or lose abilities they used to have.

There's no cure for this lifelong disorder, but early treatment may help your child adjust.

Most children with Rett syndrome have a mutation on the X chromosome, usually in a gene called MECP2.

Exactly what this gene does, or how its mutation leads to Rett syndrome, isn't clear. Researchers think that the single gene may influence many other genes involved in development.

Although Rett syndrome is genetic, children almost never inherit the faulty gene from their parents. Rather, it's a chance mutation that happens in DNA.

Both conditions can make it hard to communicate and socialize.

But there are key differences:

Rett syndrome usually happens in girls, while autism spectrum disorder is much more common in boys.

Some symptoms of Rett syndrome don't happen with autism spectrum disorder. These include slowed rate of head growth, loss of hand skills, less mobility, and irregular breathing.

A child with Rett syndrome usually prefers people more than objects and likes when you show them affection. The opposite can be true in a child with autism spectrum disorder.

About 1 out of every 10,000 to 15,000 girls worldwide is born with Rett syndrome. The disorder is even rarer in boys.

When boys develop the Rett syndrome mutation, they rarely live past birth. Males have only one X chromosome (instead of the two girls have), so the effects of the genetic mutation are much more serious and almost always fatal.

Most baby boys with Rett syndrome show signs of it very early on, and they have health problems starting when they're born or soon after. They need aggressive medical treatment, meaning treatment that's more intense than usual.

The age when symptoms appear varies. But most babies with Rett syndrome seem to grow normally for the first 6 months before any signs of the disorder become obvious.

The most common changes usually show up when babies are between 12 and 18 months, and they can be sudden or progress slowly.

Some symptoms of Rett syndrome are:

Slowed growth. The brain doesn't grow properly, and the head is usually small -- doctors call this microcephaly. This stunted growth becomes clearer as your child gets older.

Problems with hand movements. Most children with Rett syndrome lose the use of their hands. They tend to wring or rub their hands together.

No language skills. Between the ages of 1 to 4, social and language skills start to decline. Children with Rett syndrome stop talking and can have extreme social anxiety. They may stay away from or not be interested in other people, toys, and their surroundings.

Problems with muscles and coordination. This can make walking awkward.

Trouble with breathing. This can include very fast breathing (hyperventilation), forceful exhaling of air or saliva, and swallowing air.

Seizures. Most people with Rett syndrome have seizures at some point in their lives.

It's also possible to have:

Behavior changes. Children with Rett syndrome tend to become tense and irritable as they get older. At times they may cry or scream for a while or have long fits of laughter.

Some kids with Rett syndrome also make unusual faces, lick their hands, or grasp at hair or clothes.

Unusual eye motion. This can include staring or blinking intensely, crossed eyes, or shutting one eye at a time.

Trouble sleeping. Your child might have a hard time falling asleep at night and nod off during the day. Or they might wake up at night screaming or crying.

Scoliosis. This sideway curve in the spine is common with Rett syndrome. It usually starts when a child is between 8 and 11 years old and gets worse with age. If it becomes severe, your child may need surgery.

Irregular heartbeat. Many children and adults with Rett syndrome have this serious condition, which can be life-threatening without treatment.

It's possible to have a few other symptoms, like:

Less of a reaction to pain than usual

Small hands and feet that often get cold

Trouble chewing and swallowing

Grinding teeth

Bowel problems

Symptoms of Rett syndrome usually don't improve over time. It's a lifelong progressive condition. The symptoms often get worse very slowly or don't change. It's rare for people with Rett syndrome to be able to live on their own.

In general, there are four stages. But the way the stages unfold and the severity of Rett vary from child to child.

Stage I: Early onset. This stage usually happens when your baby is 6 months to 1 1/2 years old. It lasts for a few months to a year.

The symptoms of the disorder are subtle during this time, which can make them easy for you to overlook. Your baby might make less eye contact with you and seem less interested in toys. They might also take longer than usual to sit up or crawl.

Stage II: Rapid destructive. Some doctors also call this the "rapid deterioration" stage. It usually starts when a child is 1 to 4 years old, and it can last weeks to months.

During this stage, your child could lose skills they used to have. It can happen quickly or gradually.

You might also notice clearer symptoms of Rett syndrome, like slower head growth, unusual hand movements, rapid breathing, trouble moving or coordinating, and losing social and communication skills.

Stage III: Plateau. This stage can start anytime from preschool to adulthood, and it can last for decades.
Your child may continue to have trouble moving, but they may cry and get irritable less often. Their communication skills and hand use might also improve. They may start to have seizures during this stage. In general, children with Rett syndrome don't get seizures before they're 2 years old.

Stage IV: Late motor deterioration. This stage usually starts after your child is 10, and it can last decades.

It's when your child is able to move on their own less or not at all. They may also have muscle weakness, limited range of motion in their joints, and scoliosis. But their ability to understand, communicate, and use their hands may improve a bit or stay stable. If they have seizures, they may get them less often, too.

Doctors can make the diagnosis by observing your child's pattern of symptoms and behavior. They'll probably also ask you about things like when the symptoms started.

Because Rett syndrome is rare, doctors will first rule out other conditions, including autism spectrum disorder, cerebral palsy, metabolic disorders, and prenatal brain disorders.

Genetic testing can help confirm the mutation in 80% of girls with suspected Rett syndrome. Doctors also rely on what's called an RTT Diagnostic Criteria Worksheet. It assesses your child's early growth and development.

If you have one child with Rett syndrome, your chances of having another child with the disorder are small - even less than a 1% chance, according to the International Rett Syndrome Foundation.

Still, you and your partner can get tested for gene mutations before you decide whether you want to have more kids. You can get more information by talking with an experienced genetic counselor.

If a mother learns that she has an MECP2 mutation (without symptoms, just a positive blood test), any daughters she has who don't have Rett syndrome can choose to get tested once they become old enough to have kids. It could help them find out if they also have the mutated gene.

A diagnosis of Rett syndrome shouldn't solely be based on genetic testing because the mutation can be seen in other similar conditions.

There's no cure for Rett syndrome, but treatments can help with a child's symptoms. They should get these treatments for their entire life.

The best options for treating Rett syndrome include:

Standard medical care and medication. Meds may help control symptoms like seizures, stiff muscles, and problems with sleeping, breathing, the heart, or digestive tract.

Physical therapy. PT and using braces or casts can help children who need hand or joint support or have scoliosis. Sometimes, physical therapy can help them keep moving, sit more easily, walk better, and improve their balance and flexibility. Assistive devices like a walker or wheelchair might also help.

Speech therapy. If your child has trouble talking, this could help them learn nonverbal ways to communicate and socialize.

Occupational therapy. This can boost your child's ability to use their hands to do things like put on clothes and feed themselves. If they have trouble making repetitive movements with their arms and hands, the occupational therapist might recommend splints that limit elbow and wrist motion.

Good nutrition. Work with your child's doctor to make sure they're eating a balanced diet, which is important for healthy growth and better mental, physical, and social skills. Also ask the doctor what you need to do prevent your child from choking on food or vomiting while eating. Some children and adults with Rett syndrome benefit from being fed through a tube placed into the belly.

Behavioral therapy. If your child has certain behavior issues, this might help improve them. It could also teach them good sleep habits that help them get a better night's rest.

Supportive services. You can look into early intervention programs as well as school, social, and job-training services for your child.

Experts believe that therapy can help children, especially girls, with Rett syndrome and their parents. Some kids may be able to go to school and learn how to socialize better.

Many girls with Rett syndrome can live at least into middle age. Researchers are studying women with the disease, which was only widely recognized in the last 20 years.

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Rett Syndrome: What Are the Symptoms and How is it Treated?

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Rett syndrome is a rare neurological disease that affects mostly girls. Learn the symptoms and how this disorder is treated.

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1.) The following case study was written by Bathla, Bathla, & Chaundna:
A case of an 8-year-old girl with Rett' syndrome is presented here. This girl had normal development till the age of 3 years. However, gradually over the next few months, she lost her acquired, purposeful hand skills; expressive and receptive language; and reciprocal social interaction; she gradually developed a broad-based gait and typical stereotyped hand movements. EEG and MRI were abnormal. Awareness of this disorder is required for early diagnosis and prompt treatment. All female children with low intelligence and autistic symptoms should be suspected of having Rett's syndrome until proved otherwise. (Bathla et al, 2010, p. 158)
This case study said that the young lady with Rett Syndrome's MRI and EEG scans came back abnormal. Instead of making assumptions about her cognitive level, I would talk to her parents about administering a few assessments with the help of the special education teacher/team (or an augmentative communication specialist). After the receiving the test results, a better informed IEP can be written and teachers can plan from there.

2.) The following story comes from ABC news:
" Chelsea is 15 and confined to a wheelchair and is nourished through a feeding tube. She cannot speak or use her hands, but her parents are convinced that their daughter, and others like her, are cognitively alive, just locked in. Doctors say that these children, who have none of the antisocial tendencies associated with autism, may have normal intelligence and crave social interaction." (James, 2012)

I believe the most important thing for students like Chelsea is stimulation: social, cognitive, and physical. Students with Rett Syndrome should be given work appropriate to their cognitive ability. The students should also be involved in activities with peers. Children with Rett Syndrome have ways of communicating and all students would benefit from different forms of social interaction. A paraprofessional should be around during the day to help the student with mobility and assist in physical activities (helping with hand movements, etc.)

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Rett Syndrome Accommodations and Modifications

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Imagine how it feels...

Imagine someone asking you a question and nothing comes up. Imagine being unable to tell your little brother that the stove is hot and not to touch it. Imagine wanting to play the piano but your hands won't allow you. Imagine trying to tell your hand to stop the spastic, repetitive motion but it won't. Imagine being unable to walk "normally" like the rest of the 6th graders down the hall.

Diagnosis:
"One common set of criteria is spelled out in the Diagnostic and Statistical Manual of Mental Disorders (DSM)" (Rett syndrome, 2015).

The criteria required for a diagnosis of Rett syndrome include:
-Apparently normal development for the 1st 5 months after birth
-Normal head circumference at birth, followed by a slowing of the rate of head growth between the ages of 5 months and 4 years
-Severely reduced language skills
-Loss of hand skills and development of repetitive hand movements between the ages of 5 months and 30 months
-Loss of interaction with others
-An unsteady walk or poorly controlled torso movement
-Severely impaired ability to communicate or move normally

Scenarios:

1. A new student with Rett syndrome comes to your school and is in your classroom. Based on the student's needs, an IEP (Individual Education Program) will be made. Some resources and services that may be provided are: Physical Therapy, Occupational Therapy and Speech-Language Therapy. With all of these, it is important that the student has a well-organized, planned out schedule. It is important to be in contact with the specialists, aids, and parents.
2. Students in the class were making fun of the student with Rett syndrome and how they walk. Show some clips and read stories (given below) to help make all of the students in the classroom aware of Rett syndrome and the causes and symptoms of it. Explain to students what their classmates strive at and enjoy. Create a sense of rapport and respect for all students. Have a positive, inviting classroom so all students feel welcomed.

Causes:
-A genetic disorder.
-It is the change in the DNA of a gene called MECP2, which is found in the X chromosome. MECP2 contains the important instruction for the body to make a protein that is vital for brain development. (curerett.org, 2014)
-In few cases, it is inherited

Symptoms:-Changes usually occur around 12-18 months

-Slowed growth (brain growth and eventually other parts as well)
-Loss of normal motor skills
-Loss of communication abilities
-Abnormal behaviors, such as sudden, odd facial expressions, screaming, or hand licking
-Irritability
-Breathing problems
-Teeth grinding

Facts:

-Mostly exclusively in girls, because males have a different chromosome combination. However, when present in males, they are affected in devastating ways. Most die before birth or in early infancy.
-1 in 10,000 females are affected
-Scoliosis is common with Rett syndrome
-Babies with Rett syndrome are generally born after a normal pregnancy and delivery.

Accommodations/Modifications:

"Having Rett Syndrome does not mean that your child cannot learn the same things as other children, but rather how much and how fast children learn may differ. Your child may need great support and more time to learn" (Teach More, 2009).
Here are some modifications and accommodations that an adaptive classroom may include:
1. Allow the student with Rett syndome to express their answers in a different form, such as pointing at pictures, having the chooses laid out for them, or clicking on the answer on the iPad (Modification).
2. Allow a personal aide or paraprofessional to come into the room to assist the student (Modification).
3. Students with Rett syndrome are interested in music. For this reason, music can be played softly in the background while they work. (Accommodation).
4. Allow the student to have an iPad for school purposes (Accommodation).
5. Display the class schedule and routine for the student and provide one for the parents and aids (Accommodation).
6. Discuss with the parents and occupational therapist what classroom equipment work best for this student (Accommodation).
7. Allow the student to participate, to the maximum appropriate extent, in whole group classroom activities (Accommodation).

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Imagine someone asking you a question and nothing comes up. Imagine being unable to tell your little brother that the stove is hot and not to touch it. Imagine wanting to play the piano but your...

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Rett Syndrome and Assistive Communication

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Resources - International Rett Syndrome Foundation

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To accelerate full spectrum research to cure Rett syndrome and empower families with information, knowledge and connectivity.

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Rett Syndrome Research Trust: Advancing the most promising curative strategies for Rett Syndrome

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Rett Syndrome Research Trust advances medical research, news and information about Rett Syndrome. A singular guide for parents and the scientific and medical community.

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national center for biotechnology information

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Special Education Supports and Services for Rett Syndrome: Parent Perceptions and Satisfaction - PubMed

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There are no published studies describing educational experiences for girls with Rett syndrome. Given the extensive educational needs associated with Rett syndrome, it is important to understand how families perceive their daughters' educational experiences to inform education service provision. The ...

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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 boys.

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 may not have all the symptoms of Rett syndrome and their symptoms might change as they get older.

Rett syndrome is described in 4 stages, although symptoms will often overlap between each stage. These are the main features of each stage:

Stage 1: early signs

At first, the child will appear to develop and grow normally for at least 6 months. There may be subtle signs of Rett syndrome before the child is recognised as having a problem (especially with hindsight).

Stage 1 is sometimes described as "stagnation". 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 from 6 to 18 months and often last for several months, although they can persist for a year or more.

Stage 1 can often go unnoticed because the changes occur gradually and may be subtle.

Stage 2: regression

During stage 2, 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 1 and 4 and may last for any time from 2 months to more than 2 years.

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

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 3: plateau

Stage 3 of Rett syndrome can begin as early as 2 years or as late as 10 years. It often lasts for many years, with many children remaining in this stage for most of their lives.

During stage 3, some of the stage 2 symptoms 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 may also improve (or they may learn to walk, if they could not before).

Other symptoms at this stage include:

seizures, which may become more common

irregular breathing patterns may get worse - for example, shallow breathing followed by rapid, deep breathing, or breath holding

Gaining and maintaining weight can also be difficult to achieve.

Stage 4: deterioration in movement

Stage 4 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 do not tend to get any worse during stage 4. The repetitive hand movements may decrease and eye gaze usually improves.

Seizures also usually become less of a problem during teenage 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 is not passed on from one generation to the next. Almost all cases (over 99%) are spontaneous, with the mutation occurring randomly.

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 do not tend to appear until a child is between 6 and 18 months old.

A genetic blood test can be used to identify if the genetic mutation is responsible for Rett syndrome. If a change is found in the MECP2 gene, it can help confirm the diagnosis, but failing to find it does not 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 minimise 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 medicine 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

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 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 them 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.

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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 boys. Some children with Rett syndrome are affected more severely than others.

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Description

Rett syndrome is a neurological disorder found almost exclusively in females. Infants and children with the disorder usually develop normally until approximately age 6 to 18 months. They then cease to acquire new skills and gradually or suddenly lose previously acquired abilities, such as conscious control of the hands and the ability to vocalize most sounds or words.

It has a prevalence of approximately 1 in 10 000 to 1 in 15 000 females between the ages of 5 and 18 years. There are about 200 girls in Australia who have been diagnosed with this condition.

Rett syndrome is a genetic disorder - it is caused by a mutation of the MECP2 gene, which is found on the X chromosome - but less than one percent of recorded cases are inherited. Most cases are sporadic - the mutation occurs randomly.

It was originally described by Dr. Andreas Rett of Austria in 1966, but did not become well known until twenty years later following publication of a report describing 35 affected girls from Sweden, Portugal, and France.

In the early onset stage - usually beginning between 6 and 18 months - there is only a subtle slowing of development, which may go unnoticed. Delays in gross motor skills such as sitting and crawling occur, and the child may make less eye contact and show less interest in toys. This stage may last from a few months to over a year.

At the rapid destructive stage - usually beginning between ages 1 and 4 and lasting for weeks or months - purposeful hand skills and spoken language abilities are lost. Characteristic hand movements, including repeated hand clapping, mouthing, tapping, washing, and/or wringing emerge. Breathing irregularities such as hyperventilation may occur. Some girls display autistic like symptoms such as loss of social interaction. Gait patterns (in those who have learned to walk) are unsteady and slowing of head growth is usually noticeable during this stage.

The plateau stage - usually beginning between ages 2 and 10 - may last for years. In this stage there is a relative stability of symptoms and there may be an improvement in behaviour, with less irritability, crying and autistic like features. However, motor difficulties and seizure activity may become more pronounced. Many females with the condition may remain for the rest of their lives in this stage of stabilization.

The late motor deterioration stage is characterised by reduced mobility and may last for years or decades. Some girls who have learned to walk may gradually lose this ability. Other difficulties may include increasing muscle weakness, spasticity, and joint contractures. Sustained muscle contractions may cause involuntary, potentially painful, twisting or distorted posturing of affected muscles (dystonia). Further abnormalities may include irregular, rapid, jerky movements, particularly of the forearms and lower legs. Scoliosis (curvature of the spine), particularly for those who are unable to walk, may become progressively severe during this stage. Eye contact and attention span however may improve and repetitive hand movements may decrease.

Treatment

There is no cure for Rett syndrome. Treatment focuses on the management of symptoms. Medication may be needed, for example, for breathing irregularities and motor difficulties. Therapy can help slow the progress of movement loss. Such therapy may include physiotherapy to prevent deformities of the joints and to improve movement, occupational therapy to improve hand use, horseback riding, music therapy and hydrotherapy - exercise in water.

People with Rett syndrome attend all types of schools. They need early exposure to toys and music, age-appropriate activities, and a school environment that provides strong motivation.

Prognosis

Many women with Rett syndrome live well into middle age and beyond. Because the disorder is rare and relatively recently identified very little is know about life expectancy and long-term expectations.

Further Information and Support
Click here for the latest Australian research papers on Rett Syndrome
Read More at Virtual Medical Centre

Rett Syndrome Association of Australia Inc
GPO Box 3497, Melbourne VIC 3001
Ph (03) 9615 7077 or 0418 561 796
Email rettaust@bigpond.com.au

International Rett Syndrome Foundation
www.rettsyndrome.org
National Institutes of Neurological Disorders and Stroke (USA)
https://www.ninds.nih.gov/Disorders/All-Disorders/Rett-Syndrome-Information-Page
Reviewed by Padraic Grattan-Smith, Sydney Children's Hospital, Australia DISCLAIMER: The information provided is designed to support, not replace, the relationship that exists between a patient / site visitor and his / her existing health care professionals.

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Description Rett syndrome is a neurological disorder found almost exclusively in females. Infants and children with the disorder usually develop normally until approximately age 6 to 18 months. They then cease to acquire new skills and gradually or suddenly lose previously acquired abilities, such as...

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Rett syndrome is a neurodegenerative disorder that almost exclusively affects girls. It is characterized by acquired microcephaly, developmental regression starting around 12-18 months of age, loss of speech, and loss of normal hand function. In most cases, patients also have seizures, cannot move, and have severe problems with communication.

Mobility, communication, and home adaptations can help patients with Rett syndrome overcome their disabilities and carry out daily activities as independently as possible.

Communication aids

Rett syndrome patients often have communication problems. Augmentative and alternative communication (AAC) methods and aids can help. These include picture cards, communication boards, devices with voice output, computers, and various apps.

Aids for daily living

Aids for daily living include items that enable more independence with daily activities such as bathing, toileting, grooming and dressing, feeding, drinking, and cooking.

Bath safety products include shower chairs, transfer benches, raised toilets, grab bars, and safety rails.

Dressing and grooming aids such as dressing sticks, shoehorns, hair grooming aids, zipper/button aids, hip kits, and shoelaces and fasteners can help patients dress themselves more independently.

Hygiene tools and accessories are available to help patients maintain cleanliness and hygiene. Some can be used by caregivers to assist patients.

Special-needs scissors and cutting aids are available to help those who struggle with fine motor skills and/or hand mobility.

Modified cups and drinking aids that are easy to pick up and hold are available. These include plates and bowls with built-up rims and edges, and utensils with large, angled, or weighted handles that are easier to grasp. Special-needs weighted and curved utensils including spoons, forks, knives, and other utensils with grip aids can help those who have issues with fine motor skills.

Specially designed kitchen aids, including easy openers, knob and tap turners, utensil holders, meal preparation aids, and kitchen appliances, can help in activities such as preparing meals, holding utensils, opening cans and bottles, turning taps and knobs of stoves, and maintaining cleanliness.

Reachers and reaching aids are available to help easily grab hard-to-reach items.

Orthotics

Braces and other orthotics may be necessary to support weak joints or limbs.

There are several types of braces:

ankle-foot orthoses to overcome hypertonia

craniocap orthoses for flat-head syndrome

back braces to support the spine

special scoliosis braces

specially designed footwear and inserts

hand splints to help position the thumb for grasping, prevent stereotyped hand movements, and reduce self-injury and agitation where they are particularly severe

Mobility and seating aids

Seating and mobility equipment include manual or power wheelchairs with custom seating, strollers for younger patients, walkers, standers, lifts, and feeding chairs. Specialized wheelchairs, scooters, and carts may be needed to move freely, both indoors and outdoors.

Sitting and standing aids such as turning devices, curved grab bars, security poles, and canes can help users sit and stand from a bed, couch, or chair.

Mobility car aids such as swiveling car seats and grab bars are available for those who find it difficult to get in and out of the car.

Other aids and adaptations

Pointers and page turners help individuals to turn pages, use a keyboard, or hold a pencil.

Therapy aids such as balls, bands, putty, weights, exercise mats, and balance boards, are available to assist therapists, educators, and parents in helping patients build strength, stimulate new skills, and promote independence.

Reading and writing aids such as book holders, page turners, head pointers, mouth sticks, and other writing aids are available to make reading and writing easier and more effective.

Home modifications

Home modifications may be required for indoor and outdoor furniture, lifts, lighting, signs, and different rooms at home so that they are more easily and safely accessible for the patient.

Ramps can be built for entry and exit at home so that it is wheelchair-accessible.

Bathrooms can be made wheelchair accessible, for example, by not having cabinets underneath the sink.

Bedrooms should have enough space for a medical bed and other equipment, including a wheelchair. A mechanized sling can help the patient move from the bed to the wheelchair and vice versa.

Kitchens can be fitted with drawers that can be opened without difficulty so the patient can access food and other items more easily.

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Rett Syndrome News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

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Mobility, communication, and home adaptations can help patients with Rett syndrome overcome their disabilities and live as independently as possible.

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Learn more about how parents, educators, and therapists work together to choose the appropriate schooling programs for children living with Rett syndrome.

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Rett syndrome is a rare non-inherited genetic postnatal neurological disorder that occurs primarily in girls and more rarely in boys. Rett syndrome leads to severe impairments, affecting nearly every aspect of the child's life. Finding trusted information is the first step towards simplifying this journey.

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Rett Syndrome Resources and Support for Families | Girl Power 2 Cure

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Girl Power 2 Cure is a non-profit organization supporting families dealing with Rett Sydrome; a severe neurological disorder that affects children