What is Rett syndrome?
Classic Rett syndrome is a progressive neurodevelopmental disorder that is defined by apparently normal development in the first 6 months of life, a period of developmental regression followed by stabilization, loss of spoken language and purposeful hand use, abnormal walking, and distinctive repetitive, purposeless hand movements (hand stereotypies). Rett syndrome primarily affects girls and women and occurs in about 1 in 10,000 live female births. There have only been rare reports of boys affected with symptoms consistent with classic Rett syndrome. The syndrome occurs across all racial, ethnic, and social groups. Early in its course, prior to development of the characteristic hand movements, Rett syndrome is often misdiagnosed as autism or cerebral palsy.
What causes Rett syndrome?
Classic Rett syndrome is usually caused by a loss-of-function mutation in the X-linked gene MECP2 that codes for the protein Methyl-CpG-binding Protein 2 (MeCP2). MeCP2 is required for normal maturation of neurons and the nervous system, and loss of the protein prevents the brain from maturing appropriately leading to widespread abnormalities in nervous system function. Only rarely is a genetic cause not identified in Classic Rett syndrome. Boys with developmental disabilities have also been identified with mutations in MECP2 but usually present with different symptoms that do not fit the definition of Classic Rett syndrome.
What is the usual presentation of Rett syndrome?
After an uneventful pregnancy and delivery, most people with Rett syndrome have apparently normal development for the first 6 months of life. Between 6-18 months parents and/or physicians may note developmental delays that may be mild at first. Regression of spoken language and hand use with development of repetitive, purposeless hand movements are often the first distinctive signs of the syndrome, usually occurring between 18 and 30 months of life. Loss of walking ability may also occur during this time. During the period of developmental regression, some individuals may have social withdrawal and/or irritability.
After the period of regression, a “plateau” stage occurs in which skills are no longer lost and may show slight improvement. This is also the period when other distinctive features may appear including irregular breathing patterns (hyperventilation, breath holding), poor sleep, abnormal movements, cold hands and feet, and seizures. Problems coordinating chewing and swallowing, and additional gastrointestinal issues such as reflux and constipation are also very common. Many children with Rett syndrome will have poor growth despite apparently normal appetite. Although some individuals show “autistic” features during regression, during the plateau stage most show improved social interaction and eye contact.
During adolescence and young adulthood, movement may become more impaired, with slowness of movements, increased difficulty walking, and muscle stiffness. These clinical features are termed parkinsonism. Scoliosis may also develop during late childhood or early adolescence and may worsen with age.
Can Rett syndrome be treated?
The current approach to treatment is based on management of symptoms, which can greatly improve quality of life. This often requires input from multiple specialties including neurology, gastroenterology, rehabilitation medicine, orthopedics, and nutrition, with overall care being coordinated by a primary care provider. Medications may be used to control seizures, constipation, reflux, sleep problems, and movement disorders. Speech and occupational therapy will assist children with skills like chewing and swallowing, as well as maximize potential hand use. Physical therapy may improve and prolong walking and maximize range of motion. Despite limited verbal language, communication therapy may help to improve understanding and enhance communication through nonverbal methods including assistive technology devices such as computer-based eye-tracking systems. While there is currently no cure for Rett syndrome, the future does offer hope with multiple ongoing and planned clinical trials testing treatments with the potential to directly impact the course of the syndrome.
Adjusting to Rett Syndrome
Each family has their own way of coping and adjusting to life after having a child with Rett syndrome. No one should ever feel as though they are completely alone on this journey, because there are many available resources and a community that is ready and willing to help. It can be beneficial to seek out others who have some experience with adjusting to life with Rett Syndrome, and the following websites might be useful for identifying state, regional, and national resources:
- Care Guides is provided by rettsyndrome.org.
- Resources for Families is provided by rettsyndrome.org.
- Family Empowerment Team Representatives is provided by rettsyndrome.org.
- RettNet, provided by rettsyndrome.org, provides a forum for exchanging ideas about care, treatments, supports, and research.
You can request that your child’s care providers/therapists/teachers join the Rettsyndrome.org Educators Network in order to learn best practices, tips, tricks, strategies and more.
There are also many resources to assist with advocacy, help for educational planning, communication devices, and the transition to adulthood.
For families in Tennessee, we additionally recommend the following resources for connecting to community supports:
- Tennessee Disability Pathfinder, a free information and referral helpline and website, a program of the Vanderbilt Kennedy Center
- The Arc Tennessee
- Technology Access Center
- Transition Tennessee, a collaboration of the Tennessee Department of Education, Vanderbilt University’s Department of Special Education, and TennesseeWorks
- Transition to Adulthood Services, provided by Tennessee Council on Developmental Disabilities