Rett Syndrome is a postnatal neurological disorder, almost exclusively occurring in girls. The condition is genetic, but Rett Syndrome is rarely inherited. The Rett Syndrome disorder itself is rare (about 1 in 10,000 births results in Rett Syndrome), but the consequences are dire. Children and adults with Rett Syndrome experience challenges in almost all aspects of life – purposeful hand utilization, the ability to breathe, eat, walk, and speak are all affected.
The most telling sign of Rett Syndrome is the near-constant movement of the hands during waking hours, especially in repetitive motions. Rett Syndrome principally affects all aspects of motor control, but cognitive function of children and adults with the disorder is believed to be largely in-tact, notwithstanding the challenges inherent in non-verbal communication. Children with Rett Syndrome can express a wide range of emotions and moods, and have optimistic, attentive eyes which serve as their primary mode of communication.
Identifying current and accurate information will help jump-start your journey with a Rett Syndrome diagnosis in the right direction. The Rett Syndrome information below has been collected from trusted sources (including the National Institute of Neurological Disorders), with the intent to bring knowledge, awareness, and understanding to you and your family regarding this rare condition.
A confirmation of Rett Syndrome typically derives from a combination of clinical assessment coupled with a genetic profile (obtained by blood sample) that identifies the MECP2 gene mutation on the X-chromosome. MECP2 mutations are not unique to Rett Syndrome and can occur in other rare disorders. Clinical and symptomatic assessment by a neurological specialist is critical to diagnosis confirmation for Rett Syndrome.
Rett Syndrome presents on a spectrum from mild to severe, with symptoms manifesting in various degrees. Rett Syndrome severity is difficult to predict, and is determined by a number of complex inter-relating factors, including mutation type and location on the MECP2 gene, female X-chromosome inactivation status, X-chromosome skewing, and multiple other biological factors. This simply indicates that two children with the same mutation at the same age can present with distinct symptomatic profiles and severity of Rett Syndrome.
Even though it occurs at a much lower prevalence, males can be born with the MECP2 mutation and receive a Rett Syndrome diagnosis. Symptomatic Rett Syndrome severity tends to increase in males, and mortality rates are higher, largely attributable to their single X-chromosome genetic status. Ongoing advances in research and genetic sciences are leading to increased awareness, diagnosis, and a better understanding of what causes Rett Syndrome in both females and males.
Although Rett Syndrome brings about many difficulties and challenges, aggressive physical therapy, symptomatic drug interventions, diet protocols, and adaptive communication approaches (combined with love and understanding), can help Rett children thrive in their families and communities.
Typically, Rett Syndrome children grow well into middle ages, with the ability to experience a full range of moods and emotions. Their personality becomes well developed and defined, and they can engage in many recreational, educational, and social activities both in their homes and their communities.
Children with Rett Syndrome are usually born after a normal and even healthy pregnancy and delivery. In most infants, from birth to about six months of age, there is healthy (normal) growth and development. Rett Syndrome symptom onset typically occurs between six and eighteen months of age, and may include generally impaired motor function, loss of functional hand use and acquired speech, breathing abnormalities, slowing growth patterns and other regressive characteristics.
The most visible Rett Syndrome symptoms begin to show up in this age range, with onset occurring over a period of weeks to months. Severity and range of symptoms can vary from child to child and differ depending on several factors.
Here’s what symptoms may look like for your child with Rett Syndrome:
While the MECP2 mutation occurs at conception, Rett Syndrome typically manifests postnatally, with first recognition occurring in early infancy. Mainly girls are affected, but boys can be diagnosed also. Rett Syndrome is often misdiagnosed, as symptoms can be erroneously attributed to those of cerebral palsy, autism, or non-specific developmental delays.
Rett Syndrome causes issues with brain function (and more specifically – synaptic transmission), leading to impairment of sensory, cognitive, autonomic, motor, and emotional functions. Speech, learning, sensory sensations, movement, mood, breathing, cardiac function, and even digestion, swallowing, and chewing are affected.
After apparently healthy early development, onset occurs between six and eighteen months of age. Though now classified as a “developmental” disorder (not degenerative), growth and skills stagnate or slow. As the affected child enters this regressive period, purposeful hand utilization and communication skills are lost.
Soon after, other symptoms manifest, such as the slowing of average head growth, gait disturbances, seizures, and disorganized breathing patterns during waking hours.
Children in the initial regressive periods of Rett Syndrome often experience sleep issues and commonly become isolated, suffering from periods of inconsolable crying and irritability. Typical communication methods are difficult or non-existent, and motor problems increase. Over time (weeks or months), communication and eye contact typically improve, and irritability stabilizes.
Genetic testing is an appropriate method of obtaining a trusted confirmation of Rett Syndrome.
The onset of symptoms associated with Rett Syndrome can be stressful and unnerving. Symptoms can be subtle and easily mistaken. If you notice any of the following signs, after a period of healthy growth and development, see your doctor as soon as possible. If appropriate, genetic testing can be performed to diagnose Rett Syndrome.
Rett Syndrome typically progresses through four distinct stages:
The National Institute of Health states that those facing Rett Syndrome can benefit from interventions at all ages, but superior results are realized by early intervention. There are multiple therapies, learning techniques, and assistance opportunities for those with Rett Syndrome leading to improved quality-of-life in many areas.
More information on Rett Syndrome can be found at the National Institute of Neurological Disorders and Stroke. Genetic testing information and work can be done at specialist organizations such as Boston Children’s Hospital for Rett Syndrome.
According to Boston Children’s Hospital, there is no known prevention for Rett Syndrome. Typical Rett Syndrome is caused by a spontaneous mutation of the MECP2 gene at conception (“spontaneous mutation” indicating that the condition is genetic, but not inherited from a parent’s contributed DNA). The condition/mutation most often occurs in girls.
Research into Rett Syndrome is being aggressively pursued and clinical trails of treatments are underway. Many organizations raise funds and sponsor grants for Rett research, with a goal to accelerate discoveries in therapeutic and cure-focused treatments. Multiple studies and clinical trials are in-progress, targeting improvements in the lives of those living with Rett Syndrome.
Research is being done to more fully understand what has gone wrong with the genetic biology. Researchers know that the spontaneously mutated MECP2 gene (and rarely inherited mutation) affects a critical protein process for brain function and development, but the exact cause of the mutation remains unknown. Clinical trials are underway to bring treatments to market and to better understand Rett Syndrome.
Further research is ongoing, developing new medications that may help improve the lives and biology of those with Rett Syndrome.
Here are several Rett Syndrome facts:
Boys have a different chromosome combination (XY) than that found in girls (XX). Subsequently, the genetic mutation of Rett Syndrome is much more devastating for boys. Many boys who have Rett Syndrome will die in early infancy, if not before birth.
There is a very small percentage of boys born with Rett Syndrome that will have a genetic mutation resulting in a less severe form of the condition, allowing them to live into child and even adulthood. Boys will still face the common difficulties and symptoms associated with Rett Syndrome and will likely have any number of developmental issues.
Rett Syndrome is rare. The mutation occurring at the genetic level is random, and risk factors aren’t identified as of yet. There have been limited cases were inherited factors may have played a role, such as having a close family member who has Rett Syndrome.
Those facing Rett may have complications in the following areas:
October is Rett Syndrome awareness month, and it’s the perfect time to make a difference in so many lives. For parents, a Rett diagnosis can be like walking blindly into a park. It is characterized by words they’ve never heard before, symptoms they cannot predict, and uncertain severity determined only by the passage of time.
Family, friends, and even many doctors can be unfamiliar with the diagnosis, making parents feel alone, in the dark, and unable to cope. Rett Syndrome occurs once per 10,000 live births, which may not sound like a lot, but results in significant numbers. A child is born with Rett Syndrome every 90 minutes, and estimates indicate over 350,000 cases worldwide.
With similar numbers to Huntington’s Disease, ALS and cystic fibrosis, Rett awareness is an important issue. Through major events like the Disney Princess Race Weekend, as well as dinners, runs, walks and other fundraising and family support, Girl Power 2 Cure works relentlessly to spread knowledge, awareness, and education that is so badly needed.
Rett Syndrome affects not just the children, but their parents, families and communities in immeasurable ways. As the leading genetic cause of severe motor impairment in girls, we must all work together to spread the story and advocate.
Donating to and supporting Rett organizations is easier than you might think. Substantive progress in understanding the condition, as well as treatments and the hope of potential cures can only continue with support from the broader community… people like you. Please visit any of the below pages to show your support, take action, and donate.
Donations go to helping fund research into the exact cause of Rett, finding better treatment or potential cure modalities, and development of better ways to help those with Rett live their lives to the fullest. Donations to Girl Power 2 Cure (https://www.girlpower2cure.org/donate/) not only support families directly, but also provides significant funding every year to leading research organizations such as the Rett Syndrome Research Trust (https://reverserett.org/donate/).
As the family member or caregiver of someone diagnosed with Rett Syndrome, the beginning stages can leave you reeling, not knowing where to turn or ask for help. We know it’s hard. That’s why we work every day at Girl Power 2 Cure and Rett University to provide resources and support services just for you.
Parents and caregivers embrace these organizations just like you; they’re substantially comprised of people who love and care about a person with Rett Syndrome, and who needed help at some point also.
These organizations include people who are willing to go the extra mile, share the latest medical news, pursue the next research topic, raise awareness with the public, and offer support in a meaningful way.
As advocates for those diagnosed or touched by Rett Syndrome, we want to help you in any way we can. Please register for our e-mail newsletter on the right side of this page. We promise to help open your world to the help and resources available through international, state, and local organizations. Organizations that will partner with you to make sure that each parent, child, and family member touched by Rett has the resources they need.