Rett’s syndrome and autism are neurodevelopmental disorders that often are not noticeable at birth but become apparent as a child develops. A child with Rett’s syndrome or autism will often regress developmentally in early childhood. These two disorders can be present in the same person simultaneously; however, they are two separate diagnoses.
Rett’s syndrome is often misdiagnosed as autism, and someone with Rett’s syndrome can exhibit autistic traits. It is important to have a specific diagnosis to tailor treatment methods to help manage symptoms.
What Is Rett’s Syndrome?
Rett’s syndrome is a neurodevelopmental disorder occurring in 1 out of 10,000 female births. It is generally fatal in males just after birth, which is why it is primarily seen in females. It occurs as a mutation of the MECP2 gene on the X chromosome.
Between 90% and 95% of the time, Rett’s syndrome is caused by a genetic mutation, but it is not necessarily a hereditary trait. It is typically noticed between 6 and 18 months old as children begin to regress on skills they have already learned.
Rett’s syndrome can vary in severity and range of symptoms and typically has four main stages with the following symptoms.
- Stage I — early onset (begins between 6 and 18 months old and can be subtle):
- Reduced interest in toys
- Loss of eye contact
- Decreased head growth
- Some hand wringing can be evident
- Delayed gross motor skills like crawling and sitting
- Stage II — rapid destructive stage (begins between ages 1 and 4 years old, lasting weeks to months and can be gradual or quick):
- Loss of spoken language
- Loss of purposeful hand motions
- Repetitive and characteristic hand motions, such as wringing, moving the hands to the mouth, tapping, clapping, grasping and releasing, or washing
- Social withdrawal and communication difficulties
- Breathing irregularities while awake swinging between hyperventilation and apnea
- Noticeable slowed head growth
- Unsteady gait
- Troubles initiating motor movements
- Stage III — pseudo-stationary or plateau stage (begins between ages 2 and 10 years old and can last years; many girls can stay in this stage for the majority of their lives):
- Difficulties with motor skills
- Apraxia (troubles performing learned movements or speech)
- Improved communication
- Enhanced social engagement
- Improved behavior skills
- Stage IV — late motor deterioration stage (can last decades or years):
- Scoliosis (curvature of the spine)
- Loss of mobility or stopping walking altogether
- Abnormal posturing that can lead to increased muscle tone in the arms or legs
- Muscle weakness, spasticity, or rigidity
- Decreased repetitive hand motions
- Increased eye contact
Rett’s syndrome can impact growth and mobility, and lead to seizures, breathing abnormalities, and cardiac troubles. Most people have gastrointestinal issues, including difficulties chewing and swallowing, which can lead to malnutrition and trouble maintaining weight. Autistic traits are also common.
The Connection Between Rett’s Syndrome & Autism
Historically Rett’s syndrome was considered a subtype of autism; however, it has been separated in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) as its own neurologic disorder. Both Rett’s syndrome and autism are often not noticeable at birth but rather as a baby develops. Rett’s syndrome often includes regression or a loss of already learned skills.
Social withdrawal, trouble making eye contact, loss of communication and motor skills, and repetitive hand motions are common traits of both disorders as a child develops. Professionals often misdiagnose Rett’s syndrome as either autism or cerebral palsy. The two syndromes can occur together in the same person at the same time.
Differentiating the Two
There are essential differences between Rett’s syndrome and autism. Rett’s syndrome is seen almost exclusively in girls, while autism can be diagnosed in both boys and girls. Girls with Rett’s syndrome also often regain an interest in social engagement and can learn how to use eye movements to communicate, whereas children with autism often avoid most forms of eye contact.
Issues with movement are often more significant in people with Rett’s syndrome than autism. People with autism often have an unsteady gait, whereas with Rett’s syndrome, girls can completely lose their ability to walk and develop tremors or muscle rigidity. Difficulty with the autonomic nervous system, including breathing, can also be more common in Rett’s syndrome than autism and can be fatal.
Obtaining a Diagnosis
A simple blood test can identify a mutation in the MECP2 gene; however, this does not necessarily mean your child has Rett’s syndrome. It can be a useful tool to help diagnose Rett’s syndrome when used in conjunction with recognizable signs and symptoms.
As a parent, it is beneficial to keep track of developmental milestones as well as any regression in these behaviors or skills and at what age they occur. You are the most in tune with your child’s daily activities and movements and will be the best observer of potential diagnostic criteria for your child’s doctor.
For an accurate diagnosis, parents should consult a developmental pediatrician, clinical geneticist, or pediatric neurologist. It is important to differentiate between autism and Rett’s syndrome or to know if both are present for the best treatment outcomes.
Treatment for Children
Treatment for both autism and Rett’s syndrome depends on the severity and type of symptoms. This is called symptomatic treatment. There are several different types of treatment often used in conjunction with each other for optimal management of symptoms. Each child is different, and methods should be specialized for each individual based on specific needs and concerns. Treatment options can include:
- Medications. Medications can be necessary for medical concerns such as breathing issues, gastrointestinal problems, motor difficulties, and to help control seizures. With Rett’s syndrome it is important to keep an eye on potential heart issues and the progression of scoliosis.
- Specialized equipment. Aids such as back braces for scoliosis and wrist braces to alter problematic hand movements can be useful with Rett’s syndrome. Assistive technology is often used to help children communicate more effectively.
- Movement therapies. Occupational therapy is beneficial for enhancing skills needed for daily life tasks such as feeding, dressing, and both fine and gross motor activities. Hydrotherapy involving water and physical therapy can both help to enhance and increase mobility.
- Speech therapy. Speech therapy can help with communication, social, and verbal skills for both Rett’s syndrome and autism.
- Support services. These services can often include nutritional support for children with Rett’s syndrome as eating difficulties and malnutrition can often accompany the disorder. Vocational therapies and social skills training can be beneficial as well.
- Behavioral therapies. Behavioral interventions can help to manage symptoms and therapies such as applied behavior analysis (ABA) can help to encourage children to use desired behaviors while discouraging less desirable ones. These interventions are specific to the age and needs of the child.
The sooner treatment and interventions begin the better as behaviors and symptoms can be managed and skills learned to improve quality of life.
Options and Treatment Modalities for Adults
People with Rett’s syndrome can live fulfilling lives up into their 40s and 50s when managing symptoms supportively and keeping an eye on cardiovascular, breathing, gastrointestinal, and other potential medical issues. It is vital to have a complete medical team helping to assist women with Rett’s syndrome to manage symptoms and monitor for possible medical and mental health complications.
Many of the same supportive services beneficial for children, such as occupational therapy, social skills training, speech therapy, physical therapy, behavioral interventions, and nutritional support, are also helpful for adults with Rett’s syndrome and/or autism.
Behavioral interventions for adults often include cognitive behavioral therapy (CBT), which helps to enhance coping skills and symptom management through awareness and tools for stress relief. Counseling and support groups can help women feel more connected to others who feel similarly. Social supports, medical, and behavioral interventions can help women live meaningful lives with Rett’s syndrome and autism.
Treatment methods should include support for the entire family to help everyone work together with a medical team for optimal management of symptoms. A complete medical team can aid in developing and carrying out a workable treatment plan that can support and enhance entire families for the best possible quality of life.
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