What is Rett Syndrome?
Rett Syndrome is a severe neurological condition that affects a child’s ability to speak, walk, eat, and breathe. The symptoms include loss of communication skills, difficulty walking, seizures, scoliosis, and breathing difficulties. Rett Syndrome impacts the development of the brain in girls and is one of the 5 types of autism that existed in DSM4.
For those unaware, DSM4 stands for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. It was a manual published by the American Psychiatric Association (APA) that provided diagnostic criteria for mental disorders. The DSM4 was published in 1994 and was the standard classification system used by mental health professionals in the United States and many other countries. It was replaced by DSM-5 in 2013, which is the current edition of the manual. The reason I mention DSM4 is because in DSM5, Rett Syndrome is included in one diagnosis of autism.
So, what is Rett Syndrome caused by?
It is caused by a mutation in the MECP2 gene, which is responsible for producing a protein that regulates the activity of other genes. The mutation leads to a deficiency in this protein, which disrupts the normal functioning of the brain and causes the symptoms of Rett Syndrome. This disorder is often misdiagnosed as autism, and can be categorized as cerebral palsy or non-specified developmental delay.
What is Rett Syndrome’s main symptom?
The symptoms of Rett Syndrome usually appear around 6-18 months of age. The child may experience a loss of motor and communication skills, loss of speech, and difficulty walking. They may also develop breathing difficulties, seizures, and scoliosis. This disorder is characterized by a loss of eye contact, lowering of head growth, feet and hands, development of stereotyped repetitive hand movements such as handwashing, hand tapping, and hand clapping.
Additional problems may include teeth grinding, sleep disturbances, and unusual eye movements, such as intense staring, blinking, crossed eyes, or closing one eye at a time. Children with Rett Syndrome tend to become increasingly agitated and irritable as they get older. Periods of crying or screaming may begin suddenly, for no apparent reason, and last for hours. Other symptoms that may be seen in a child with Rett Syndrome include odd facial expressions, decreased response to pain, problems with chewing and swallowing, and problems with bowel function.
Unfortunately, most people with Rett Syndrome may not live as long as the average person because of heart problems and other health complications. Children with Rett Syndrome require a significant amount of care and support from their families. They may require assistive devices such as wheelchairs, feeding tubes, and communication devices to help them communicate and move around.
Caring for a child with Rett Syndrome is a full-time job that requires a lot of patience, love, and dedication. Similar to autism and other disorders we mentioned in previous videos, there is no cure for Rett Syndrome. However, there are treatments available that can help manage the symptoms and improve the quality of life for children with the syndrome.
Physical and occupational therapy can help improve motor skills, reduce muscle stiffness, and increase mobility. This can help children with Rett Syndrome move around more independently and engage in activities they enjoy. Medication for seizures and breathing difficulties can help manage these symptoms.
Assistive devices such as communication and mobility aids can help children with Rett Syndrome communicate and move around easily. Nutritional support such as feeding tubes may be necessary if the child has difficulty eating. Lastly, ABA therapy can be used to help individuals with Rett Syndrome learn new skills and behaviors, communicate more effectively, and reduce problem behaviors such as self-injurious behavior, aggression, and anxiety.
What is Rett Syndrome’s treatment?
It is important to note that the treatment for Rett Syndrome will depend on the specific symptoms and needs of the individual child. Treatment plans should be developed in consultation with a healthcare team that includes a pediatric neurologist, physical therapist, occupational therapist, and other specialists as needed. Ongoing care and support from family members and caregivers are also essential for managing the symptoms and improving the child’s quality of life.
In conclusion, it is important to understand what is Rett Syndrome as it is a rare and complex genetic disorder that primarily affects girls. It is a severe neurological condition that impacts a child’s ability to speak, walk, eat, and breathe. There is no cure for Rett Syndrome, but treatments are available to manage the symptoms and improve the quality of life for children with the Syndrome. It is important for healthcare professionals, caregivers, and families to work together to provide ongoing care and support for individuals with Rett Syndrome.
Also read: What is Asperger Syndrome?
About Olga Sirbu
My name is Olga Sirbu, I am a Board Certified Behavior Analyst (BCBA) and Licensed Applied Behavioral Analyst. My goal is to support and empower families and individuals on the autism spectrum.
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