Rett Syndrome : Fast Facts

What is Rett Syndrome?

Rett is a neurological disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys

It can be misdiagnosed as autism, cerebral palsy, or non-specific developmental delay

It is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots”

It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 female births. Although Rett syndrome can affect males, the incidence in males is not known

It is not a degenerative disorder

It causes problems in brain function that are 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

Symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotypical hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent

Other problems may include seizures and disorganized breathing patterns while she is awake, an abnormal side-to-side curvature of the spine (scoliosis), and sleep disturbances. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve

It can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different

Rett Syndrome: a 1 in 10,000 diagnosis

Sabrina Millson works as a clinical researcher at McMaster Children’s Hospital (MCH). She knows more than most people about the many different illnesses and conditions that can affect children. But she had never heard of Rett Syndrome. Until her daughter was diagnosed.

A stall in her development

As a baby, little Ella developed typically, despite being a bit behind her peers. She responded to her parents’ gestures, smiled and made eye contact, and had a vocabulary of about 50 words. As she neared her third birthday, things changed.

“She stopped sleeping throughout the night and started having recurring tremors,” Sabrina, recalls. “Her behaviour changed dramatically.”

Ella was diagnosed with Autism Spectrum Disorder and Global Developmental Delay. Her symptoms mimicked early signs of these conditions. But Ella continued to regress, and it became very clear to Sabrina that something different was going on. After turning three, Ella lost all fine motor skills, and stopped walking and talking. Her parents rushed her to the emergency department at MCH.

A rare diagnosis: Rett Syndrome

A group of doctors reviewed Ella’s symptoms and ordered further tests. Dr. RamachandranNair, who specializes in epilepsy, determined Ella was having seizures. “Seeing her constellation of symptoms, we began to consider Rett Syndrome,” he says. Dr. Jennifer MacKenzie, a pediatrics genetics specialist, was called in to consult on Ella’s case. “Ella made good eye contact and had some repetitive hand wringing, both suggestive of Rett syndrome in a girl with Ella’s symptoms,” she says.” Genetic testing confirmed the diagnosis.

“It was absolutely devastating,” says Sabrina. “In my professional role, I am in the room when parents receive bad news and it’s absolutely heartbreaking, but being on the other side of that conversation was harder than I could have ever imagined.”

Rett Syndrome is caused by a mutation in the MECP2 gene. This gene helps to make a protein needed by the brain and nervous system. When the gene is mutated, it doesn’t create enough healthy protein to support normal brain function. Most cases include apparently normal development up to about 18 months, followed by a short pause in development, then a rapid loss of skills over a few years, then, typically, a plateau in symptoms. Rett Syndrome results in severe impairments, affecting almost every aspect a child’s life, including their ability to speak, walk, eat, sleep, and even breathe easily. Repetitive hand movements, like Ella’s, are a hallmark feature.

The syndrome occurs almost exclusively in girls and is very rare, affecting one in 10,000 girls under age twelve. Up to 90% of females with classic Rett Syndrome also experience seizures.

Caring for a child with a rare disease

“Caring for a child with a rare disease is very challenging,” says Sabrina. “Because few people know about Rett Syndrome, they don’t often understand it. There is a lot of unknowns, and it makes you feel alone.”

Sabrina says she has been able to find support online, and through her dedicated healthcare team at MCH. While there is no cure for Rett Syndrome, Ella sees a number of specialists to manage its effects, including pediatrician, Dr. Iman Shbash, neurosurgeon, Dr. Sheila Singh, ophthalmologist, Dr. Kourosh Sabri, orthopedic surgeon, Dr. Sarah Burrow, and Dr. RamachandranNair.

“staff are invested in children and that’s the best feeling in the world”

“We are fortunate to have a children’s hospital in our home town,” says Sabrina. “You know when you come here that staff are invested in children and that’s the best feeling in the world.”

Sabrina and her family are focused on helping Ella enjoy life. Their little girl loves swimming, socializing and playing outside. She has regained a few words, including mom and dad, and will soon begin learning to communicate using an eye gaze system. As the parent of a child with a rare disease, Sabrina tries to balance appreciation for her daughter’s individuality with the desire to raise awareness about Rett Syndrome. Above all, she wants people to see Ella as lively little girl who is unique not only because of her rare disease, but because she has the ability to teach us so much without saying a word.

Source: Hamilton Health Sciences

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