Rett syndrome is a congenital disease that affects the development of the brain and nervous system. It is a neurodevelopmental disorder.
Rett syndrome was grouped together as a type of autism until 2011, when it was grouped as a neurodevelopmental disorder.
Rett syndrome is a genetic condition. However, it is not passed on from a parent to their child. Instead, the condition occurs due to a mutation in the X chromosome, and the condition is almost exclusively seen in girls.
Although Rett syndrome is not life-threatening, it severely affects the functioning ability of those diagnosed with the condition. Unfortunately, there is no cure for it. The disorder was first identified in 1966 by Austrian doctor Dr. Andreas Rett, after whom the condition is named.
Rett syndrome is caused due to a mutation of the X chromosome in the MECP2 (called mec-p2) gene. Research is ongoing to discover the cause of this mutation and how it impacts neurological development.
The MECP2 gene contains instructions to make a protein needed for brain development. This protein also acts as a biochemical switch to increase gene expression or tell other genes when to turn off and stop producing their own unique proteins. Thus, the mutated MECP2 gene causes other genes to have faulty expressions.
This action causes a variety of functional problems in the individual with the mutated MECP2 gene. Research is looking at gene therapy as a means to achieve regulated expression of a normal MECP2 gene.
In the early stages of Rett syndrome, children often exhibit behaviors similar to those seen in children with an autism spectrum disorder. The progress of the condition, including the age of onset and the severity of symptoms, differs from child to child.
Unfortunately, symptoms do not improve over time. Often, those with Rett syndrome experience a slow worsening of their symptoms over time.
Rett syndrome progresses through four stages.
This stage begins between 6 and 18 months of age. Most infants with Rett syndrome grow to 6 months of age without any visible signs of the condition. Symptoms usually manifest between 6 to 18 months, and their physical and neurological symptoms become more apparent.
At this stage, symptoms are not apparent. And parents may not notice the subtle slowing of development at first.
Symptoms can include:
This stage usually lasts for a few months but can continue for more than a year.
This stage is typically seen between ages 1 and 4. Its onset may be rapid or gradual as the child loses purposeful hand skills and spoken language.
Symptoms may include:
Hand movements and breathing irregularities usually stop during sleep.
In the early stages of Rett syndrome, children often exhibit behaviors similar to those seen in children with autism.
This can include loss of social interaction and communication, unsteady movement while walking, and difficulty initiating motor movements. Slowed head growth is usually noticed during this stage.
This stage may last for weeks or months.
This stage is usually seen between ages 2 and 10. Although there may be some improvement in behavior (and reduced autism-like symptoms), the inability to perform motor functions and frequent seizures are prominent during this stage.
The child may be less irritable and show more interest in their surroundings, and their alertness, attention span, and communication skills may improve.
This stage can last for years, and children may remain in this state for most of their lives.
This stage can last for years or decades. It is characterized by
Cognition, communication, or hand skills may not reduce further in this stage. Repetitive hand movements may decrease, and eye gaze can improve.
Doctors usually diagnose Rett syndrome by monitoring and observing symptoms during the child's early growth and development. They may also perform ongoing analyses of the child's physical and neurological status.
A recently developed genetic test may be used to look for the MECP2 mutation as an additional confirmation of diagnosis.
Diagnosis can involve a collaborative team of medical professionals, including a pediatric neurologist, clinical geneticist, and developmental pediatrician.
Unfortunately, there is no known cure for Rett syndrome at present. Treatment for the disorder focuses on managing symptoms and providing support, requiring a multidisciplinary approach. Special academic, social, vocational, and support services can be helpful in some cases.
Medication can help with symptoms such as breathing abnormalities and seizures. Occupational therapy can sometimes help children gain independent function in tasks such as dressing and feeding.
Children with Rett syndrome will need lifelong support and care as they are unable to live independent lives.
The consequences of Rett syndrome for the child and their family are life-altering. Attention must be directed towards helping the family cope by considering the psychological and social impact, attitudes, manners, reactions, and effects of the condition on the entire family.
Sunshine Advantage is committed to providing comprehensive support for families with children who have dual diagnoses, including those with Rett syndrome. We understand the complexities of such diagnoses and work collaboratively with a multidisciplinary team of providers, including specialists in Applied Behavior Analysis (ABA), Physical Therapy (PT), Occupational Therapy (OT), and Speech Therapy.
Our goal is to ensure that every aspect of your child's development is supported in a coordinated manner. By partnering with other healthcare providers, we ensure your child receives the best possible care tailored to their specific needs.
To explore how we can help your child and family, call Sunshine Advantage at 855-523-2327 or contact us online.
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