This particular genetic disorder almost exclusively affects females. In certain rare cases, males might also be affected.
Many children with Rett syndrome are diagnosed due to the late motor deterioration stage that parents seek advice for.
If you’re concerned that your little one has the symptoms of Rett syndrome, speak to your health professional; the condition might be early onset atypical Rett syndrome and will require a clinical diagnosis.
What is Rett syndrome?
Rett syndrome is a rare genetic disorder that affects a girl’s gross motor skills and brain development.
Initially, babies appear healthy. After six months, however, they might lose language skills, fail to meet developmental milestones, experience movement disorders, have rapid breathing, and could have cerebral palsy and slowed growth.
How is Rett syndrome diagnosed?
Diagnosis of Rett syndrome is completed by a medical professional. A sample of blood is requested and sent off to pathology.
The pathologists will look at the results of a DNA genetic test for the severity and cause of the Rett syndrome diagnosis.
What are the signs or symptoms of Rett syndrome?
Babies with Rett syndrome might not meet developmental milestones and might display autistic-like symptoms.
Other symptoms of Rett syndrome might be:
- Repetitive hand movements
- Neurological disorders affecting brain development
- Muscle weakness with abnormal muscle tone
- Teeth grinding
- Sleep disturbances
- Slowed head growth
- Breathing irregularities.
Can children with Rett syndrome survive?
Girls with Rett syndrome might, on average, have a lifespan taking them into middle age (about 40 to 50 years). They will generally have a high quality of life but will require a full-time carer for their lifetime.
It is rare for boys to have Rett syndrome. Rett syndrome is far more serious for boys and, sadly, it is usually fatal.
More research is required into children with Rett syndrome as not much is currently known.
Is there a treatment for Rett syndrome?
There is no cure for Rett syndrome. The primary focus is on improving quality of life, as well as preventing and managing the symptoms.
Treatments for Rett syndrome can include:
- Physical therapy
- Speech therapy
- Nutritional support.
Can you prevent Rett syndrome?
Rett syndrome is a genetic and rare disorder and, most of the time, happens spontaneously. There is no way to prevent it.
If you have a child with Rett syndrome, you might want to ask your health care provider for more information and a Rett syndrome fact sheet.
Make sure you talk about genetic counseling with genetic testing. You can also visit the International Rett Syndrome Foundation website.
How is Rett syndrome inherited?
Despite being caused by a gene mutation, Rett syndrome is rarely inherited.
Is Rett syndrome a form of autism?
Rett syndrome (RTT, MIM#312750) is classified in neurological disorders and is an autism spectrum syndrome.
Classic Rett syndrome is characterized by repetitive hand movements, hand wringing, decreasing head growth, and intense eye communication.
The characteristic hand movements of Rett syndrome are more severe than those of autism. Most girls with Rett syndrome won’t be able to walk or will have an unsteady gait.
Due to this developmental disorder, as girls get older they might experience muscle weakness and tremors.
You might like to read our article Autism Spectrum Disorder: A Parent’s Inspirational Journey With Autism.
Will Rett syndrome be a problem at the birth?
Every baby’s birth is different. Your health care provider will work with you and your family to prepare you for the birth. Together, you can make a plan for after the birth and discuss any medical interventions that might be necessary, depending on the baby’s medical condition.
You will find this free resource useful: Birth Plan – Why Write One? Free Birth Plan Template.
Support networks – Rett syndrome
Seeking support is vital for everyone’s mental health and physical wellbeing.
Here are some links to topics that might interest you: