What is the Difference Between Rett Syndrome and Autism

The key difference between Rett syndrome and autism is that Rett syndrome is a neurodevelopmental disorder almost exclusively diagnosed in girls, while autism is a neurodevelopmental disorder diagnosed in both boys and girls.

A neurodevelopmental disorder is a disorder that affects the development of the nervous system, leading to abnormal brain function. This may also affect emotions, learning ability, self control, and memory. The effects of neurodevelopmental disorders tend to last for a person’s lifetime. Rett syndrome and autism are two types of neurodevelopmental disorders.

1. Overview and Key Difference
2. What is Rett Syndrome
3. What is Autism
4. Similarities – Rett Syndrome and Autism
5. Rett Syndrome vs Autism in Tabular Form
6. Summary – Rett Syndrome vs Autism

What is Rett Syndrome?

Rett syndrome is a rare genetic neurological, and developmental disorder that affects the way the brain develops, causing a progressive loss of motor skills and speech. This genetic disorder primarily affects girls. It occurs in 1 out of 10,000 female births. Rett syndrome is generally fatal in males just after birth, which is why it is primarily seen in females. This disorder is due to a genetic mutation in a gene called MECP2 on the X chromosome. In a few cases, this genetic disorder is inherited. The mutation results in problems with the protein production critical for brain development. However, the exact cause is not fully understood yet and is still being studied.

Rett Syndrome and Autism - Side by Side Comparison

Figure 01: Rett Syndrome

Signs and symptoms of Rett syndrome include slowed growth, loss of normal movement and coordination, loss of communication abilities, abnormal hand movements, unusual eye movements, breathing problems, irritability and crying, other abnormal behaviours, cognitive disabilities, seizures, abnormal curvature of the spine, irregular heartbeat, sleep disturbances, and other symptoms (thin, fragile bones, prone to fractures, small hand and feet usually cold, problems with chewing and swallowing, problems with bowel function, teeth grinding).

This disorder can be diagnosed through medical and family history, blood tests, urine tests, imaging tests (CT scan, MRI), hearing tests, eye and vision tests, brain activity tests, and genetic testing. Furthermore, treatment options for Rett syndrome include regular medical care, medications (for seizures, muscle stiffness, breathing problems, gastrointestinal tract problems, and heart problems), physical therapy, occupational therapy and speech, and language therapy, nutritional therapy, behavioural interventions, and supportive services (academic, social and job training).

What is Autism?

Autism is a neurodevelopmental disorder diagnosed in both boys and girls. It is broadly classified as an autism spectrum disorder. It is characterized by challenges with social skills, repetitive behaviours, speech, and non-verbal communication. According to information from Centres for Disease Control, autism affects 1 in 44 children in the United States.

Figure 02: Autism

The symptoms of autism include avoiding eye contact, resisting cuddling and holding, failing to respond to name, inability to start a conversation, speaking with an abnormal tone, repeating words, not understanding simple questions, inappropriately approaching a social interaction, difficulty recognizing non-verbal cues, performs repetitive movements, performing activities that could harm oneself such as biting or head banging, developing a specific routine and becoming disturbed at slightest change, problems with movement patterns, abnormal body posturing and facial expressions, abnormal tone of voice, deficit in language comprehension, delay in learning to speak, and flat or monotonous speech.

Autism can be diagnosed through medical history, questionnaires to evaluate standards of the Diagnostic and Statistical Manual of Mental Disorders (DAM-5), physical and psychological examination, speech and language testing, neurological testing, and genetic testing. Furthermore, treatment options for autism include behavioural and communication therapies, educational therapies, family therapies, speech therapy, occupational therapy, physical therapy, and medications (antipsychotic drugs, antidepressants).

What are the Similarities Between Rett Syndrome and Autism?

Rett syndrome and autism are two types of neurodevelopmental disorders.
Historically, Rett syndrome was considered as a subtype of autism.
Both medical conditions may have a genetic predisposition.
They may have similar symptoms.
Both Rett syndrome and autism are often not noticeable at birth but rather as a baby develops.
They are treated through supportive therapies and specific medications.

What is the Difference Between Rett Syndrome and Autism?

Rett syndrome is a neurodevelopmental disorder that is almost exclusively diagnosed in girls, while autism is a neurodevelopmental disorder that is diagnosed in both boys and girls. Thus, this is the key difference between Rett syndrome and autism. Furthermore, inherited genetic mutation of the MECP2 gene leads to Rett syndrome. On the other hand, inherited genetic mutation of the ACTL6B gene leads to autism.

The below infographic presents the differences between Rett syndrome and autism in tabular form for side by side comparison.

Summary – Rett Syndrome vs Autism

Neurodevelopmental disorder is a disorder of the development of the nervous system, leading to problems in brain function. Rett syndrome and autism are two types of neurodevelopmental disorders. Rett syndrome is a neurodevelopmental disorder that is almost exclusively diagnosed in girls, while autism is a neurodevelopmental disorder that is diagnosed in both boys and girls. So, this summarizes the difference between Rett syndrome and autism.

Reference:

1. “Rett Syndrome.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 11 Oct. 2018.
2. Cherney, Kristeen. “Everything You Want to Know about Autism Spectrum Disorder (ASD).” Healthline, Healthline Media, 1 Nov. 2021.