Rett syndrome is a rare neurological disorder that interrupts the development of social cognition. While it can affect any child at any age, children with autism or Down Syndrome are often diagnosed earlier than they would be without Rett syndrome. With no cure for this debilitating disease, many parents have taken to crowdfunding campaigns in order to raise money for research and treatment.

Rett’s Syndrome and Autism are both developmental disorders, but they have some key differences. Rett’s Syndrome is a condition that affects the brain, while autism is a condition that affects how people communicate with others.

Rett’s syndrome and autism are neurodevelopmental abnormalities that are generally undetectable at birth but manifest as a child grows. In early life, a child with Rett’s disease or autism will often regress developmentally. These two illnesses may exist in the same individual at the same time, but they are two distinct diagnoses. 

Rett’s syndrome is sometimes mistaken for autism, and people with Rett’s syndrome may have autistic characteristics. It’s critical to obtain a precise diagnosis so that therapy can be tailored to assist control symptoms.

What Is Rett’s Syndrome and How Does It Affect You?

Rett’s syndrome is a neurodevelopmental condition that affects one in every 10,000 female babies born. Because it is usually lethal in men shortly after birth, it is mostly encountered in girls. It is caused by a MECP2 gene mutation on the X chromosome.

Rett’s syndrome is caused by a genetic mutation 90 percent to 95 percent of the time, however it is not always a hereditary condition. It is most noticeable between the ages of 6 and 18 months, when children begin to regress on previously gained abilities. 

Rett’s syndrome is characterized by a wide variety of symptoms and is divided into four phases, each of which includes the symptoms listed below.

• Stage I: Early onset (starts between the ages of 6 and 18 months and may be subtle):
  • Toy enthusiasm has waned.
  • Eye contact is lost.
  • Head size is shrinking.
  • There is some hand wringing visible.
  • Gross motor functions like as crawling and sitting are delayed.
• Stage II – fast destructive stage (starts between the ages of 1 and 4, lasts weeks to months, and may be gradual or rapid):
  • Loss of oral communication
  • Hand gestures that aren’t deliberate are disappearing.
  • Wringing, putting the hands to the lips, tapping, clapping, clutching and releasing, or cleaning are all examples of repetitive and distinctive hand actions.
  • Communication problems and social disengagement
  • While awake, breathing abnormalities ranging from hyperventilation to apnea
  • Head growth has halted noticeably.
  • Unstable gait
  • Initiating motor actions is a problem for you.
• Stage III — pseudo-stationary or plateau stage (begins between the ages of 2 and 10 and may persist for years; many females can spend the bulk of their life in this stage):
  • Problems with motor skills
  • Seizures
  • Apraxia is a condition in which a person is (troubles performing learned movements or speech)
  • Communication has improved.
  • Increased social interaction
  • Behavior skills have improved.
• Stage IV – late stage of motor degeneration (may span decades or years):
  • Scoliosis is a condition in which a person’s spine (curvature of the spine)
  • Loss of mobility or inability to walk at all
  • Increased muscular tone in the arms or legs as a result of abnormal posture
  • Muscle weakness, spasticity, or stiffness are all symptoms of muscle weakness.
  • Repetitive hand movements were reduced.
  • Eye contact has increased.

Rett’s syndrome may affect development and movement, as well as cause seizures, respiratory problems, and heart problems. The majority of individuals suffer from gastrointestinal problems, such as difficulty eating and swallowing, which may lead to malnutrition and weight loss. Autistic characteristics are also prevalent.

The Connection Between Rett’s Syndrome & Autism

Rett’s syndrome was formerly thought to be a subset of autism, but it is now classified as its own neurologic illness in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). Rett’s syndrome and autism are typically undetectable at birth and only become apparent as a child grows. Regression or loss of previously learnt abilities is a common feature of Rett’s syndrome. 

As a child grows, these diseases are marked by social retreat, difficulty establishing eye contact, loss of verbal and motor abilities, and repetitive hand gestures. Rett’s syndrome is often misdiagnosed as autism or cerebral palsy by professionals. The two disorders might occur at the same time in the same individual. 

Distinguishing the Two

Between Rett’s syndrome and autism, there are significant distinctions. Rett’s syndrome affects virtually exclusively females, although autism affects both boys and girls. Girls with Rett’s disease may rekindle their interest in social interaction and learn to communicate via eye movements, but children with autism frequently avoid making eye contact.

Issues with movement are often more significant in people with Rett’s syndrome than autism. People with autism often have an Unstable 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.

How to Get a Diagnosis

A mutation in the MECP2 gene may be detected with a simple blood test, however this does not always indicate your kid has Rett’s syndrome. When used in combination with recognised indications and symptoms, it may be a helpful aid in diagnosing Rett’s syndrome. 

As a parent, keeping note of developmental milestones, as well as any regression in certain behaviors or abilities, and when they occur, is useful. You are the finest observer of probable diagnostic criteria for your child’s doctor since you are the most in touch with your child’s everyday activities and motions. 

A developmental pediatrician, clinical geneticist, or pediatric neurologist should be consulted for an appropriate diagnosis. For the greatest treatment results, it’s crucial to distinguish between autism and Rett’s syndrome, or to know whether both are present.

Children’s Treatment

Both autism and Rett’s disease have different treatments depending on the intensity and kind of symptoms. This is referred to as symptomatic therapy. For the best symptom management, multiple different forms of therapy are often utilized in concert with one another. Because each kid is unique, techniques should be tailored to his or her personal requirements and concerns. Among the treatment options available are:

• Medications. Medications may be required for medical conditions such as respiratory difficulties, gastrointestinal disorders, movement challenges, and seizure management. It’s critical to monitor possible cardiac problems and scoliosis advancement in people with Rett’s syndrome. 
• Specialized equipment is required. With Rett’s syndrome, aids such as back braces for scoliosis and wrist braces to change troublesome hand motions might be helpful. Children often utilize assistive technology to improve their communication skills.
• Movement treatments are a kind of movement therapy. Occupational therapy may help you improve abilities for everyday chores including eating, dressing, and both fine and gross motor activities. Hydrotherapy, which involves the use of water, and physical therapy may both assist to improve mobility.
• Speech therapy is a kind of treatment that involves the use of Both Rett’s disease and autism may benefit from speech therapy to improve communicative, social, and language abilities.
• Support services are available. These services may sometimes involve nutritional care for children with Rett’s syndrome, since the disease is commonly accompanied by feeding issues and malnutrition. Also effective are vocational therapy and social skills training. 
• Behavioral treatments are a kind of treatment that is used to help people Behavioral treatments and therapies such as applied behavior analysis (ABA) may assist to control symptoms and teach children to utilize preferred behaviors while discouraging less desirable ones. These therapies are tailored to the child’s age and requirements. 

Treatment and interventions should begin as soon as possible so that habits and symptoms may be controlled and skills developed to enhance quality of life.

Adult Treatment Options and Modalities

When treating symptoms and keeping a watch on cardiovascular, respiratory, gastrointestinal, and other possible medical difficulties, people with Rett’s syndrome may live satisfying lives well into their 40s and 50s. It’s critical to have a multidisciplinary medical team on hand to help women with Rett’s syndrome manage their symptoms and watch for medical and mental health consequences. 

Adults with Rett’s syndrome and/or autism may benefit from many of the same supporting services that are good for children, such as occupational therapy, social skills training, speech therapy, physical therapy, behavioral treatments, and nutritional assistance. 

Cognitive behavioral therapy (CBT) is a kind of behavioral intervention for adults that aims to improve coping skills and symptom management by providing awareness and stress-relieving strategies. Counseling and support groups may help women connect with others who are going through similar experiences. Women with Rett’s disease and autism may benefit from social support, medical treatment, and behavioral treatments. 

Treatment techniques should involve family support in order for everyone to work together with a medical team to achieve the best possible symptom control. A comprehensive medical team can assist in designing and implementing a treatment plan that will support and improve the quality of life for whole families.

References

Frequently Asked Questions (2021). Rettsyndrome.org. 

Rett Syndrome is a neurological condition that affects people (2021). The National Organization for Rare Disorders (NORD) is a non-profit organization dedicated (NORD).

Fact Sheet about Rett’s Syndrome. (In March of 2020). The National Institute of Neurological Disorders and Stroke is a federal agency that studies neurological disorders and strokes (NINDS).

The Link Between Rett Syndrome and MECP2 Disorders and Autism (September 2012). Clinical Neuroscience Dialogues

Autism Criteria Have Changed in the New DSM-5. (June 13, 2013) Publications of the American Academy of Pediatrics (AAP). 

The Relationship Between Retts Syndrome and Autism. (Updated on October 2019). Spectrum News is a publication that covers a wide range of 

What Is Rett Syndrome and How Does It Affect You? (2021). Empowerment of people with autism. 

Rett’s Syndrome vs. Autism: What You Should Know – The Elemy Learning Studio is a blog post that has been written to help parents understand the difference between Rett’s Syndrome and autism. Reference: stages of autism.

Frequently Asked Questions

What is the difference between Rett syndrome and autism?

A: Rett syndrome is a neurological disorder that generally occurs in females, whereas autism is an umbrella term for developmental disabilities.

Is Rett syndrome associated with autism?

A: Rett syndrome is an early-onset disorder where the brain develops abnormally and typically manifests in young girls with a high level of autism.

Why is Rett syndrome not on the autism spectrum?

A: Rett syndrome is classified on the spectrum of Autism. It has been identified as a less severe form of autism, where children develop normally but do not speak or interact with others in typical ways until later in life.

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