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Gillette Children’s Specialty Healthcare is a regional leader in the care and treatment of children, teens and adults who have Rett syndrome. As one of the nation’s Best Children’s Hospitals in pediatric orthopedics and with one of the region's largest teams of neurologists and neurosurgeons, we offer exceptional expertise.
Because of the complex and varied symptoms associated with Rett syndrome, our team includes specialists in cardiology, endocrinology, gastroenterology, medical genetics, neurology, orthopedics, pediatrics, pulmonology and rehabilitation medicine.
We also collaborate with groups, such as the International Rett Syndrome Foundation and the Midwest Rett Syndrome Research Association, to better understand the unique needs of people who have this rare disorder. Our goal is to provide a family-centered environment that helps our patients achieve their highest possible levels of comfort, independence and happiness.
Why Choose Gillette?
- Gillette is one of the nation’s Best Children’s Hospitals in pediatrics orthopedics and a regional leader in pediatric neurology and neurosurgery.
- We offer a team of specialists in a single center who provide comprehensive care—from birth through adulthood—for people who have Rett syndrome.
- Our experts collaborate to develop customized treatments tailored to each patient’s and family’s needs.
- We offer facilities and technology designed specifically for people who have Rett syndrome and its complex associated symptoms.
- Because we believe that clinical research promotes the highest standards of care, we join with researchers at the University of Minnesota to provide evidence-based medicine.
Rett syndrome is a rare neurodevelopmental disorder that affects the growth and development of the brain. It occurs in childhood—almost exclusively in girls—and its effects on brain development can cause variable and cascading consequences in areas such as muscle development, walking and communication.
Rett Syndrome Causes and Risk Factors
Most children diagnosed with Rett syndrome have a gene mutation (MECP2) that impairs normal brain development. The mutation causes the brain to either make too little of an essential protein or to make damaged protein that the body can’t use. As a result, the brain cannot develop normally. Rett syndrome most often occurs spontaneously, meaning that most cases are not inherited.
The condition, which can produce autism-like symptoms, is associated with mutations in a gene on the X chromosome. As a result, approximately 95 percent of children diagnosed with Rett syndrome are girls.
Rett Syndrome Symptoms and Effects
Rett syndrome appears to progress in stages. Symptoms vary depending on the stage and severity of the disorder.
Infants with Rett syndrome typically have no symptoms during the first six to twelve months of life. Then, during the early-onset stage (usually between 6 to 18 months), development slows or stalls. Children stop gaining developmental skills, such as walking or talking, or lose skills they had achieved.
Common Rett syndrome symptoms include:
- Challenging behaviors
- Crying or irritability
- Difficulty crawling or walking
- Loss of or decline in speech skills
- Loss of eye contact or visual interaction
- Loss of muscle tone (muscle weakness, floppiness)
- Loss of purposeful use of hands
- Repetitive hand movements (wringing, washing, tapping)
- Slowed brain and head growth
Experts believe that the behavioral challenges associated with Rett syndrome might result from communication difficulties or an altered sensory system. Because of its symptoms, Rett syndrome is often mistaken for autism, cerebral palsy or a developmental delay. And because slowed head and brain growth is subtle, it might go unnoticed until other delays become obvious.
Later Stages of Rett Syndrome
As children enter their early teenage years, developmental regression slows. Children display improved behavior, with less crying or irritability. Alertness, attention span and nonverbal communication might also improve. However, seizures and movement problems are common. Joint deformities and scoliosis may arise due to prolonged immobility and muscle weakness. Many people remain at this stage for the rest of their lives.
Diagnosing Rett Syndrome
Most infants with Rett syndrome are female and appear to develop normally until age 2 or 3. Common early signs of the condition include a regression in speech or gross motor abilities. Some children experience seizures. Physicians should refer patients immediately if they show a concerning level of skills regression or missed developmental milestones.
At Gillette, children who have symptoms of Rett syndrome typically undergo developmental assessments conducted by a neurologist or neurodevelopmental pediatrician.
Many people who have Rett syndrome reach adulthood without receiving a diagnosis or care from experts who understand the disease and its secondary complications. Gillette Lifetime Specialty Healthcare welcomes new referrals for adults who have Rett syndrome.
Rett Syndrome Treatments
Although there is not yet a cure for Rett syndrome, treatment can minimize the effects of associated symptoms. Gillette’s team of specialists can recommend ways to slow the loss of abilities, improve or preserve movement, and encourage communication and socialization. Our goal is to help families understand, and address, the complex issues Rett syndrome causes.
Moreover, girls and women with Rett syndrome need typical primary care services, which might seem challenging because of the patients’ developmental concerns. Our providers collaborate with community primary care providers and gynecologists to meet the overall health care needs of people who have Rett syndrome.
Treatments may include:
- Assistive technology for custom seating and mobility equipment to improve or maintain independence
- Medications to control seizures, reduce breathing issues, or maintain a steady heartbeat
- Occupational therapy to improve or maintain functional hand use and ease repetitive hand movements
- Orthoses (braces) to help manage bone and joint deformities
- Physical therapy to improve or maintain mobility and balance
- Speech therapy to help patients communicate nonverbally and improve social interaction
- Surgery to correct severe scoliosis or other joint deformities
At Gillette, children under 16 who are diagnosed with Rett syndrome typically receive treatment at Gillette’s St. Paul Campus. Teens (16 and older) and adults receive care at the Gillette Lifetime Specialty Healthcare St. Paul – Phalen Clinic. We consult with families and referring providers before the first visit to determine which location will best meet a patient’s needs.
Our Rett Syndrome Services
The varied and complex effects of Rett syndrome require a team approach to care. That’s why we offer experts in a wide range of specialties.
A patient who has Rett syndrome most often sees experts in the following specialties and services:
- Assistive technology
- Child life
- Gillette Lifetime Specialty Healthcare (for older teens and adults)
- Medical genetics and genetic counseling
- Neuropalliative care
- Pediatrics and general medicine
- Rehabilitation medicine
- Social work
Drawing upon these areas of expertise, we collaborate to evaluate, diagnose and develop treatment plans for each patient. Our team approach often lets us meet patients’ needs for specialized health care during one visit at one location. Our goal is to provide families with sufficient information to make informed health care decisions.
We also welcome the involvement of primary care physicians, teachers, and school and community therapists. Together, we’ll form a follow-up plan that helps patients realize the maximum benefit from their care at Gillette.