Rett syndrome is a rare non-inherited neurological development disorder that leads to impairment in the ability to speak, walk,  eat and breathe easily.  Rett syndrome is seen almost exclusively in females. It is estimated to affect one in every ten thousand female births and is found in all racial and ethic groups.

The syndrome is caused by the mutation of a single gene, MeCP2,  located on the X chromosome. This  mutation causes other genes to not function normally, resulting in severe impairments.  The MeCP2 makes protein which is critical in regulating the activity of other genes responsible for the development of the brain. Rett Syndrome affects brain function in the areas responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion. How exactly this change in the MeCP2 gene leads to Rett Syndrome is not well understood but it is currently being researched widely.

Symptoms of Rett syndrome start to appear after a period of normal or near normal development in infancy and early childhood. Typically between six and eighteen months of life, there is a slowing down or stagnation of developmental skills, followed by regression in speech, hand skills and gait. Rett Syndrome symptoms are different from girl to girl depending on the location and severity of the MeCP2 mutation. Therefore, two girls of the same age with the same mutation can display symptoms differently. 

Despite its multiple handicaps, Rett syndrome is not a degenerative disease it is a developmental disease. Cognitive assessment is complex with Rett children given their limited communications skills and lack of purposeful use of their hands, but it is widely believed that they understand far more than they can communicate and have mental function much higher than originally thought.

Many individuals with Rett syndrome live long into adulthood. There is currently no cure, but intensive research continues in institutions and hospitals including Harvard, University of Edinburgh, Cornell, and Krembil Neuroscience Centre at Toronto Western Hospital and dozens more.

Symptoms of Rett Syndrome

Rett syndrome presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.

Although there are common symptoms for Rett Syndrome, every child is unique, as are their symptoms. Symptoms can present with a wide range of disability ranging from mild to severe. Early detection is key to making managing the symptoms  easier for both the child affected and their family.

Symptoms may include:

• Loss of speech
• Loss of purposeful use of hands
• Involuntary repetitive hand movements such as handwashing
• Loss of mobility or gait disturbances
• Loss of muscle tone
• Seizures or Rett “episodes”
• Osteoporosis
• Scoliosis
• Breathing issues
• Sleep disturbances
• Slowed rate of growth for head, feet and hands

What to expect

Even though there is not yet a cure for Rett Syndrome, there are interventions that will make a significant difference. As Rett syndrome is not a degenerative disease, constant physical and mental stimulation will have a tangible impact, and it will avoid further physical deterioration due to non use. Each intervention will enhance the quality of life for those living with the condition.

Soon after stereotypical hand movements and gait disturbances begin, you may notice abnormal breathing patterns. Breath holding, and seizures may begin. Your child may have periods of isolation or withdrawal where they are irritable and cry inconsolably. Over time, motor skill problems may increase, which means your child will need assistance with most aspects of daily living and care.  However, interaction and communication, breathing and seizures may very well improve over time. 

Occupational, speech/communication and physical therapies are essential supports. The therapists within these three services often work together to address issues and develop therapy plans. Aggressive therapy is always recommended and there may be a need for lifelong support. A team approach including the family is the best practice when supporting a child or adult with Rett Syndrome. At this point, led by therapists with expertise in augmentative communication, good results are being seen with the use of computers that respond to eye gaze and do not necessarily require hand skills.

Other effective therapy interventions often used are hydro, hippo, music and massage therapies. They provide support to occupational, physical and speech programs. Each has its benefits and should not be overlooked.

You are not alone. Rett Syndrome Society of BC is comprised of parents, friends and family who have walked or are walking this journey. We are dedicated to providing families with meaningful support, raising public awareness and advocating for all living with Rett syndrome.  With support, you will learn how to find the right professionals, schedule appointments and therapies, search for the right schools or programs, and find special equipment.  We encourage you to reach out to us and connect to other parents who are in this journey with you.