Overview of Rett Syndrome

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Rett syndrome is a genetic condition that affects girls, causing physical, cognitive and behavioral problems, as well as seizures. While the seizures can be treated with anticonvulsants, there is no specific treatment that can cure Rett syndrome itself.

Rett syndrome is a clinical diagnosis made based on a group of signs and symptoms. There is no specific test that can confirm the syndrome, so it's important for other neurodevelopmental diseases to be ruled out before a diagnosis of Rett syndrome is given. 

If you have a daughter with Rett syndrome, she will need care and assistance with activities for daily living as well as special education programs. As a parent, you can reach out for guidance from your daughter’s medical team, as well as from support groups.

Symptoms

The symptoms of Rett syndrome begin in early childhood, but they are not present at birth. Some subtle symptoms can begin before a girl reaches the age of 1, and more noticeable symptoms begin between ages 3 and 5.

Some of the symptoms of Rett syndrome are described as regressive, meaning that girls who had certain skills begin to lose them. Some symptoms manifest as a lack of developmental milestones, meaning that girls do not attain the physical, cognitive, and social abilities expected for their age.

Symptoms of Rett syndrome include:

  • Lack of physical movements: Sometimes, babies with Rett syndrome may not be as physically active as expected for their age. They may not roll over or use their hands or kick their legs as actively as typical babies. The lack of physical activity can begin around age 1 or sooner, and it is not always noticeable. Often, parents recall that their daughter was not an active infant, but even in these situations, there is typically a decline in activity between ages 2 and 5. 
  • Lack of eye contact: If your daughter has Rett syndrome, one of the earliest symptoms is a lack of eye contact, which can begin before the age of 1. Parents who do not have older children may not notice this if they do not yet have a familiarity with normal infant habits and behavior. Typically, however, lack of eye contact begins after the toddler years and can be mistaken for a sign of autism.
  • Lack of social interaction: Girls who have Rett syndrome generally lose interest in communicating with or interacting with others, including siblings and parents. They do not pay attention to other people and may become agitated or frightened when their parents are absent, although they usually do not display a strong emotional attachment to their parents. 
  • Developmental regression: Girls who have Rett syndrome generally begin to learn to speak and then appear to lose their language and communication abilities. Similarly, they begin to use their hands purposefully, but lose this ability in early childhood.
  • Developmental delay and deficits: Girls who have Rett syndrome usually cannot learn reading, math, art, or sports. They generally struggle with motor skills and do not play video games or understand how to play with puzzles or blocks the way children their own age do.
  • Lack of problem-solving abilities: Often, children and adults with Rett syndrome cannot learn how to problem solve and approach even minor challenges either with passivity or temper tantrums.
  • Language impairment: Speaking skills and comprehension of language appear to become impaired. Girls who have Rett syndrome do not speak at an age-appropriate level, often speaking at the level of a child who is between the ages of 2 to 3 throughout their whole lives, and they are only able to understand simple speech and instructions.
  • Loss of purposeful hand movements: Most girls who have Rett syndrome learn to use their hands, and then lose this ability, despite the fact that they typically maintain normal motor strength and coordination of their hands. 
  • Hand wringing: As girls lose the ability or interest in using their hands, they begin to have repetitive hand wringing movements for no reason.
  • Repetitive movements: In addition to the characteristic hand wringing of Rett syndrome, girls often also develop other repetitive and purposeless movements. These movements are not the same for all girls, and you may begin to recognize your daughter’s own typical repetitive movements.
  • Loss of appetite and eating problems: Girls with Rett syndrome typically have a small appetite or even an aversion to food. In addition, they may have trouble chewing and swallowing, as well as constipation. This can cause weight to be on the lower end of normal and may cause malnutrition. Occasionally, a girl with Rett syndrome may become hungry and eat more than usual or have an increased interest in a certain type of food for a few weeks, but this is not expected to last. 
  • Sleeping problems: Sleeping problems are very common, and young girls tend to wake up at night or scream or excessively laugh during sleep. Older girls have an increased tendency to have seizures during sleep or fall asleep during the day.
  • Breathing problems: Often, a girl with Rett syndrome can have episodes of slow breathing or rapid breathing. This is not normally life-threatening, but in rare instances, a girl with Rett syndrome may need respiratory support. If you are concerned about changes in your daughter’s breathing patterns, you should talk to her doctors about it.

Seizures

Most girls who have Rett syndrome experience seizures, which can include generalized tonic-clonic seizures, absence seizures, or myoclonic seizures.

  • Generalized tonic-clonic seizures involve shaking of the body, and usually an impairment of consciousness with diminished or no response during the seizure. Typically, there is a period of decreased responsiveness after the seizure.
  • Absence seizures are periods of staring and unresponsiveness, without moving or shaking of the body but without deliberate movement of the body, either. Absence seizures can occur while a person is sitting or lying down, and they can go unnoticed.
  • Myoclonic seizures are characterized by brief jerking of the body, often with some impairment of consciousness.

The frequency and type of seizures can vary, with some girls experiencing one type of seizure and some experiencing more than one type. If your daughter has seizures, you will learn to recognize her aura or pre-seizure appearance and behavior, and you may be able to prevent a seizure by giving her medication.

7 Things Everyone Should Know About Seizures

Causes

Rett syndrome is caused by a genetic mutation in the MECP2 gene, a gene located on the X chromosome. The disease is autosomal dominant, which means that if a girl has the mutation on only one of her X chromosomes, she will have the condition. Boys who have the mutation on their X chromosome do not survive past infancy. This mutation is usually not hereditary. It typically occurs spontaneously, but if a girl with Rett syndrome becomes pregnant, she could pass the disease to her child, whether it is a boy or a girl.

The mutation that causes Rett syndrome is believed to cause a deficiency of protein function. This deficiency prevents cells in the brain and the body from carrying out normal functions, particularly in communication between nerves, which produces these widespread symptoms.

Diagnosis

Rett syndrome is a clinical diagnosis based on certain clinical criteria as well as the definitive exclusion of other disorders that can produce similar symptoms. Other disorders that may initially appear similar to Rett syndrome include autism, cerebral palsy, Angelman syndrome, Lennox-Gastaut syndrome (LGS), encephalitis, and childhood metabolic disorders. 

There are several physical findings that are common among girls with Rett syndrome. These features do not have to be present, and there are no set cut off criteria, but they support the diagnosis. 

  • Small stature and size: In general, girls with Rett syndrome are shorter, smaller, and weigh less than average for their age or what would be expected based on their family history. 
  • Small head circumference: As with the short stature and small size, head circumference is also smaller among girls with Rett syndrome, although there is no numerical value for head size that confirms the diagnosis.
  • Scoliosis: As the girls reach late childhood, most develop curvature of the spine, which worsens and can become disabling, as they get older. 
  • Low muscle tone: On physical examination, most girls have normal or slightly less than normal muscle strength, but it can be difficult to tell due to the lack of effort. However, diminished muscle tone with Rett syndrome is more common, and your daughter’s doctor can detect this by physical examination as well as by observation. 

Imaging Tests

In general, brain imaging tests are normal in girls who have Rett syndrome, but it is important to rule out other conditions, such as encephalitis (brain infection) or brain malformations before reaching a diagnosis of Rett syndrome.

Lab Tests

Blood tests and lumbar puncture are typically done when Rett syndrome symptoms are present, although there are no specific findings associated with Rett syndrome on these tests. The purpose of blood tests and lumbar puncture is to rule out other conditions such as infections and metabolic disorders that could be causing the symptoms.

Genetic Test

A genetic test can identify the gene mutation on the X chromosome. If a girl has the gene mutation, this is supportive of Rett syndrome, but it does not necessarily mean that she has the condition. The MECP2 mutation can be present with PPM-X syndrome, neonatal encephalopathy, and autism-like conditions, which are all neurodevelopmental disorders that do not fit the criteria for Rett syndrome.

Treatment

There is no specific treatment for Rett syndrome itself, but it is important that your daughter receive treatment for the seizures. She may also benefit from cognitive and physical therapy to optimize her motor and cognitive function as much as possible.

Treatments used for girls with Rett syndrome include:

  • Anti-seizure medications: There are a number of anticonvulsants used to control seizures for girls who have Rett syndrome. The specific medication that would be most beneficial for your daughter is based on her seizure type or types. Some girls are resistant to taking medication by mouth, which is a challenge because anticonvulsants should be taken on a regular schedule. If you have this problem, you may need to rely on a liquid or injectable medication to prevent your daughter’s seizures. 
  • Physical therapy: When girls can cooperate, therapy can help with muscle tone and can help prevent sores and muscle contractions that may develop due to lack of use.
  • Scoliosis treatment: This can include support braces or surgical treatment. Surgery for scoliosis may involve placement of a rod to support the spine, which helps prevent the mobility problems that can result from scoliosis. 
  • Nutritional supplementation: The combination of low appetite and difficulty communicating can result in nutritional deficits for girls who have Rett syndrome. You can offer your daughter healthy food options, but if she doesn’t want to eat or doesn’t want a certain type of food, you usually cannot reason with her or convince her to try it. If necessary, you may need to provide her with high-calorie nutritional supplements, such as shakes or protein bars. Sometimes, girls with Rett syndrome may temporarily need placement of a feeding tube to maintain nutrition during bouts of particularly low appetite.

    Coping

    If your daughter has or may have Rett syndrome, then you know that this is a challenging situation. She will need help and support for her basic needs throughout her life. In the meantime, she may not show attachment and may seem cold and indifferent to her close caregivers while rejecting others who try to step in or provide medical care. 

    As you navigate these challenges, you can develop a system for effective communication with your child’s medical team. Often, clinics, which regularly take care of kids and adults with neurodevelopmental disorders, have a system in place for troubleshooting serious versus minor problems. Your daughter will also benefit if you find a suitable school and maintain contact with her teachers and school aides.

    You can also get help caring for your daughter from home health aides who can come to your house to assist you. If the care becomes more involved and challenging, you may need to find a place for your daughter to stay so that she can get professional care on a day to day basis, and you can visit her so that you can maintain a relationship and stay close to her.

    A Word From Verywell

    Taking care of a child with a serious neurodevelopmental disorder is not easy. Parents can find themselves exhausted with the demands of taking care of a special needs child, as well as arranging for health and educational resources. You may also have a job, other children, personal relationships, and your own health to attend to.

    Parents in this situation may find it beneficial to connect with support groups who can provide advice and share strategies for coping.

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    View Article Sources
    • Boban S, Leonard H, Wong K, Wilson A, Downs J. Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices. Am J Med Genet A. 2018 Apr 28. DOI: 10.1002/ajmg.a.38829.

    • Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H. Seizures in Rett syndrome: an overview from a one-year calendar study. Eur J Paediatr Neurol. 2007 Sep;11(5):310-7. DOI: 10.1016/j.ejpn.2007.02.008.