Rett syndrome is a rare, but serious neurological disorder that requires daily care and understanding of how it affects the patient. At YourDNA, we want to make sure you have all of the information you need at your fingertips, in order to make the best decisions for you and your family.
A serious neurological disorder, Rett syndrome (RS) is very rare, affecting only 1 out of 10,000 females worldwide 1. It’s relatively new in the medical field, so doctors are still learning about what it entails.
The symptoms range in severity and even the mutated gene can cause confusion because its presence is simply not enough for a firm diagnosis.
The disorder isn’t degenerative, but it is a lifetime affliction that requires most, if not all patients, to have daily caretaking. The majority will never be independent because they don’t have the cognitive or motor functions to make it on their own.
The lifespan is well into adulthood, with special care and consistent attention to medical needs.
In some instances, patients are diagnosed with atypical Rett syndrome, which is when they display some of the symptoms, but not all of them and do not fit all of the criteria for a diagnosis.
What Is Rett Syndrome?
Rett syndrome is a severe neurological disorder that may present with similar symptoms of other disorders such as autism and cerebral palsy.
It affects mainly girls, though there are extremely rare cases of it affecting boys, too. It’s a genetic disorder, but it’s typically not inherited or passed down among family members.
Instead, the mutation on the MECP2 gene tends to occur spontaneously.
Rett syndrome occurs in four stages including early onset, rapid deterioration, plateau and late motor deterioration.
- Early onset stage occurs between the ages of 6 and 18 months and can last up to a year. Parents and pediatricians will typically notice if a child misses a developmental milestone or backtracks.
- Rapid deterioration happens between the ages of 1 and 4, when the progress a child has made starts to regress. Symptoms such as repetitive hand movements and irritability start, and parents or caretakers will begin to notice issues with communication.
- The plateau stage is when the symptoms stabilize. This period can last several years and seizures, if they appear, will do so during this stage, but not usually before age 2. Motor skills and communication may improve.
- Late motor deterioration appears anytime after 10 years of age. It can last up to several decades. Mobility decreases and muscles weaken, which can hinder movement, however, motor skills tend to remain stable and seizures aren’t as prominent.
Not every patient will hit all of the stages, some skip from stage two to stage four, particularly if there was never ambulation, or the ability to move whether crawling or walking.
The life expectancy for someone with Rett syndrome varies depending on the severity of the disorder. Typically it’s not the condition itself that leads to death, but the symptoms.
Many patients with RS live into adulthood, even into middle age, though they are highly unlikely to ever live independently.
The disorder is very rare, but because it’s a fairly newly discovered medical condition that health professionals are struggling to understand, it’s not clear how many people in the United States have it. However, the National Institutes of Health estimate that between 1 in 10,000 and 1 in 22,000 females are afflicted with RS, with fewer than 1,000 cases diagnosed each year 2.
What Are the Symptoms of Rett Syndrome?
The symptoms of Rett syndrome vary depending on the person and the severity of the gene mutation. However, most symptoms and signs of the neurological disorder occur 6 to 18 months after birth. Before that, the infant appears to develop and behave normally.
The most obvious symptoms of the disorder appear when developmental milestones are missed. This includes, but is not limited to:
- Reduced motor skills – coordination and movement skills tend to deteriorate with eventual muscle weakening and spasms that result in abnormal positioning and movements. The loss of these skills may occur rapidly before slowing down into a gradual decline.
- Inability to communicate – where a person with Rett syndrome initially learns to communicate, whether with sounds or a few words and eye contact, they suddenly become disinterested in their surroundings. This includes people and toys. Sudden loss of speech isn’t uncommon, but the inability to communicate typically isn’t permanent. It will gradually begin to return, but likely in nonverbal forms.
- Repetitive hand motions – these motions vary among patients, but often include excessive clapping, rubbing, squeezing or wringing motions.
- Irritability, fear and anxiety – agitation is not uncommon in patients with RS. Sometimes they will cry or scream for hours, for what appears to be no reason. Fear and anxiety may set in as the child ages, sometimes to the extent that therapy is required.
- Breathing issues – hyperventilation, holding their breath and swallowing air are just a few of the breathing issues that a patient may exhibit. While most of these problems present during the waking hours, sometimes they occur at night and lead to sleep disturbances.
- Sleep problems – in addition to breathing issues disturbing a patient’s sleep, other sleep problems may include an irregular sleep pattern or waking up in the middle of the night screaming and crying.
- Cognitive function – intellectual function may decrease in a person with Rett syndrome, which often results in a loss of skills.
- Seizures – there are multiple types of seizures that a patient with RS may experience, and they often occur at some point during their lives.
Other symptoms that aren’t obvious from a visual standpoint include, but are not limited to:
- Slowed brain growth – the brain in a person with Rett syndrome tends to be approximately 30 percent smaller than your average human being. However, there are no malformations or infections present. Instead, patients have half the synapses and the neurons are smaller with reduced branching.
- Irregular heartbeat – not every person with Rett syndrome will experience an irregular heartbeat, but when it’s present it can be life-threatening, for both adolescents and adults.
- Fragile bones – people with Rett syndrome may experience more broken bones than someone without due to the bones’ thin, fragile nature.
- Scoliosis – the curving of the spine appears in children between the ages of 8 and 11, though it may worsen as the child ages. In some severe cases, surgery may be required to straighten it out.
What Are the Complications of Rett Syndrome?
In addition to symptoms, patients may experience complications from the neurological disorder as well. Doctors typically manage these complications with medications and therapies to keep the person comfortable.
The most common complications include:
- Difficulty eating which leads to poor nutrition intake and slowed growth
- Problems with muscles, joints and bones
- Pain from weakened bones
- Constipation, incontinence, gallbladder disease and GERD
- Social isolation due to anxieties and behavioral problems
- Lifelong care due to inability to properly care for themselves
- Shortened lifespan due to heart and breathing problems
Not every patient will experience these complications, and some will have more severity than others. It all depends on the individual’s prognosis.
How Is Rett Syndrome Inherited?
Rett syndrome, for the most part, is not an inherited disorder. Those who have the condition tend to get it through a spontaneous mutation of the MECP2 gene located on the X chromosome 3.
In rare cases, there may be a family history of the disease, but this is not very common and RS still remains classified as a non-inherited neurological disorder.
What Causes Rett Syndrome?
As discussed above, the disorder is caused by a defect in the MECP2 gene, which almost always occurs spontaneously.
Researchers aren’t exactly sure what the mutation involves, though it’s suspected that it affects the protein that’s critical for brain development. More research is ongoing to further investigate the disorder and its causes.
There have been 200 different types of mutation on this gene, which means the severity of the diagnosis ranges depending on where the mutation occurs.
Additionally, it’s important to note that a mutation on the MECP2 gene doesn’t necessarily mean a patient has Rett syndrome. There are other disorders and conditions that occur as a result of the defective gene, which means if a blood test shows a mutation, further testing is still needed to make a diagnosis.
Diagnosis of Rett Syndrome
Because it’s relatively new to medical professionals, there are several steps that doctors must take in order to make a diagnosis of Rett syndrome.
Some other medical conditions present with similar symptoms, so it’s more of a process of elimination before the diagnosis is made.
How Do You Diagnose Rett Syndrome?
In order to diagnose Rett syndrome, your child’s pediatrician will evaluate your child’s development and whether they’ve reached important milestones. A lengthy family history is required as well as a basic check-up, including measuring head circumference, to detect any developmental delays.
Two things doctors look for are slowed head growth, which indicates slow brain growth and a noticeable loss of skills.
How Do Doctors Test for Rett Syndrome?
There are different types of tests that medical professionals administer to test for Rett syndrome. These involve sensory exams of the eyes and ears, as well as blood and urine tests.
In some cases, they may order an electroencephalogram, otherwise known as an EEG to evaluate brain activity.
If Rett syndrome is suspected, and other disorders and conditions have been ruled out, your doctor will likely recommend or order a genetic test, which is done through a collected blood sample.
Rett Syndrome and Genetics
Genetics play a significant role in Rett syndrome, particularly because of the mutation on the MECP2 gene. This gene is responsible for producing the MeCP2 protein which helps the brain function properly.
Particularly, it’s thought to play a vital role in the development and workings of the synapses.
Researchers also believe that the MeCP2 protein is related to the mRNA molecules 4. The process of alternative splicing, which refers to the way the MeCP2 protein cuts and rearranges the mRNA molecule, helps improve communication in the neurons and is suspected to play a large role when it comes to the function of different brain cell types.
Genetic Tests for Rett Syndrome: Are They Available?
Currently, there are genetic tests available for RS, but they’re only available as a blood test through a doctor or medical facility. There is no at-home test that can detect the mutation as of yet.
DNA Testing to Spot or Detect Rett Syndrome Early
It’s natural that as a parent, you’d want to be able to detect Rett syndrome early. However, the only way that you can do this is through genetic testing at a doctor’s office or through a medical lab.
DNA Tests Currently Available for Rett Syndrome Include:
The only available test for Rett syndrome as of April 2019 is the genetic testing which is done through a blood sample.
At-home tests typically don’t include it because this isn’t a disease or condition that a person carries or passes down.
DNA Testing for Rett Syndrome: Strengths and Limitations
DNA testing for Rett syndrome is a bit tricky at this point, and often inconclusive as doctors can’t make a diagnosis strictly based on the presence of a mutation as they can with other disorders.
Furthermore, there’s no carrier status for Rett syndrome as it’s not typically passed down from parents to their children.
The strength of the DNA test for Rett syndrome is that doctors know where to look — the X chromosome — and which gene, MECP2, is responsible for the disorder.
The main limitation when it comes to testing for Rett syndrome is that even if a mutation occurs on the MECP2 gene 5, it’s not necessarily indicative of the disorder. With over 200 mutations on the gene, which happen in 8 different hot spots, so to speak, there’s no way to isolate a specific mutation and attribute it to the disorder.
Yet. Further research is ongoing and may yield more specific results in the future as doctors and scientists evaluate and isolate factors that lead to Rett syndrome.
What Are the Chances That I Will Pass on Rett Syndrome to my Child?
The odds of passing down Rett syndrome to your child are slim to none. The reason being is this is not an inherited disorder, but rather one that occurs with a spontaneous defect in the responsible gene.
If you’ve had a child with Rett syndrome and are considering the risk of having another child with the same disorder, you can breathe easy. The chance of your future children having the disorder is less than 1 percent.
Testing for Rett Syndrome on a Pregnancy or Before a Pregnancy is Achieved
Due to the nature of the spontaneous mutation, there is no method of detecting Rett syndrome or the risk thereof before pregnancy occurs.
Research has not uncovered any form of carrier status and RS has been officially listed as a non-inherited genetic disorder. However, meeting with a genetic counselor can help go over any other potential risks of Rett syndrome, along with any other genetic concerns the parents may have.
For parents who have already had a child with Rett syndrome, they may be worried about the possibility of having another child with the disorder. Fortunately, doctors can do prenatal testing, whether through CVS or amniocentesis, to determine if the baby the mother is currently carrying has the gene mutation.
This can help with future planning in the event that the test does come back positive.
Who Does Rett Syndrome Typically Affect?
Rett syndrome does not discriminate when it comes to ethnicity or race. However, it most typically only affects females.
There have been some cases of males diagnosed with the disorder, but in these cases, the infant did not live long past birth.
Does Rett Syndrome Occur in Children?
Yes, the disorder presents in early infancy to toddler years, typically between the ages of 6 and 18 months 6. Diagnosis may occur slightly later in some cases, but it’s usually always in childhood unless the disorder is misdiagnosed as a form of autism or cerebral palsy, which is becoming less common as more doctors become familiar and educated about Rett syndrome.
Rett Syndrome Treatment Options
Is Rett Syndrome Treatable?
Yes, Rett syndrome is treatable in the sense that the symptoms are treatable.
The disorder will never go away, but doctors can prescribe care plans that touch on medications, therapy and intervention services to make sure patients with the disorder live as comfortably as possible.
There are also support services for parents and caretakers to ensure they don’t burn out.
The Prognosis for Rett Syndrome
The prognosis for Rett syndrome is actually pretty good because, despite the fact that it’s a lifetime disorder, it’s not always life-threatening.
However, patients with the disorder will likely never have independence; they will always need to be taken care of as they suffer from the loss of cognitive and motor skills.
Does Rett Syndrome Go Away?
No, Rett syndrome does not go away. Those who have the disorder will continue to have it throughout their lifetime.
Is There a Cure for Rett Syndrome?
No, currently there is no cure for Rett syndrome. All doctors and medical professionals can do is treat the symptoms to improve the patient’s quality of life as best as they can.
What Are Rett Syndrome Care Options?
Depending on the symptoms a patient exhibits, there are different types of care approaches, including, but not limited to:
- Support services
One thing that’s for certain is that every patient with Rett syndrome will need regular medical care that includes a group of specialists that deal with cardiac, gastrointestinal and muscular groups.
Medications help control the symptoms that RS patients present with, particularly the ones that affect daily function. Keeping seizures at bay is important as is treating gastrointestinal and heart issues.
Some patients may need to take muscle relaxers to prevent stiffness, while others need help regulating breathing and sleep problems.
There are different types of therapy that can benefit a person with Rett syndrome. Physical therapy is a big one because it can help patients improve their ability to walk as well as maintain flexibility and balance.
Occupational therapy helps people with RS complete daily tasks such as getting dressed and feeding themselves. This is especially helpful for those who maintain some of their independence.
Occupational therapy can involve the use of assistive devices such as splints.
Speech therapy is a big part of life for Rett syndrome patients because it teaches them how to communicate nonverbally so they can still participate in conversations. It’s also designed to help with social participation, preventing a person from isolating themselves due to not being able to communicate properly.
There are different types of support services a patient can receive, too, including nutritional support from a dietician to help maintain proper growth. Other support services help people integrate into society, even completing school and entering the workforce. It truly depends on the severity of the symptoms.
For some, intervention is a must-have. Not necessarily for behavior, but for help with sleep disturbances and to improve sleep patterns.
Doctors prescribe care and treatment plans based on the symptoms a patient presents with. If the symptoms are more severe, the treatment plan is likely to change.
- Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2.
Samin A. Sajan, PhD, Shalini N. Jhangiani, MS, Donna M. Muzny, MS, Richard A. Gibbs, PhD, James R. Lupski, MD, PhD, Daniel G. Glaze, MD, Walter E. Kaufmann, MD, Steven A. Skinner, MD, Fran Anese, Michael J. Friez, PhD, Lane Jane, RN, Alan K. Percy, MD, and Jeffrey L. Neul, MD, PhD. Published online 2016 May 12. ↩
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rarediseases.info.nih.gov. Retrieved 2019. ↩
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Rett Syndrome & CDKL5 Association of Ireland. ↩
- MECP2 gene.
Genetics home reference. National Institutes of Health. 2019. ↩
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EGL Genetics. 2017. ↩
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NINDS. Publication date November 2009. ↩