Autism Misdiagnosis? Could it be Rett Syndrome?

Due to awareness campaigns and escalating diagnosis rates, autism is a mainstay in the media. Rett syndrome commonly gets misdiagnosed as autism because of similar symptoms and onset. As October is Rett Syndrome Awareness Month, here is information to help raise awareness of Rett syndrome.

What is Rett Syndrome?

Rett syndrome is a genetic mutation on the X sex chromosome. The mutation’s specific location causes the disorder to affect females almost exclusively. Children with Rett syndrome develop normally through the first 6-18 months. Then, similar to autism, the child’s development slows or stops.

Symptoms

The signs of Rett syndrome include various physical, mental, and social symptoms. Here are a range of symptoms common to Rett syndome.

Physical

• Reduced gross (walking) and fine (grasping objects) motor skills
• Poor circulation, breathing, and digestion
• Seizures
• Repetitive or stereotypic hand movements or gestures

Mental

• Reduced ability to follow verbal instructions and complete activities
• Abnormal sleep patterns
• Intellectual disabilities and learning difficulties

Social

• Reduced social engagement and interaction
• Reduced use of spoken language

Why is Rett Syndrome Misdiagnosed as Autism?

Both conditions have similar symptoms. The initial onset of both is recognized as slowed mental capacity and reduced social interaction, both also common to autism. Additional symptoms are similar to autistic features such as repetitive hand movements. According to Your Little Professor, correct diagnosis is important due to specialized practitioners, treatments, interventions, and organizations for these conditions.

Rett syndrome however, is diagnosed by observations of growth and neurological tests. Specialized pediatricians are most skilled in making an accurate diagnosis. Genetic tests are available, but are typically not likely as conclusive diagnoses may be obtained without them.

Treatment

Treatment for Rett syndrome involves managing symptoms. An infant with this challenge might require assistance for feeding and toileting, medications, dietary supplements, and physical therapy.

Specific treatments include:

• Physical therapy – to support continued physical growth and strength development
• Bromocriptine – to support motor development
• Dextromethorphan – to reduce respiratory distress
• Folate and betaine – as dietary supplements
• L-carnitine – to help improve language skills, muscle mass, alertness, energy

Rett syndrome heavily impacts the child’s developmental years. During teenage years, symptoms might reduce. The genetic mutation produces a range of disabilities from mild to severe. With appropriate support, children and adults with Rett syndrome benefit from community and educational activities and can lead active lifestyles.

Additional resources for Rett syndrome are available at:

• The International Rett Syndrome Foundation
• Medline Plus of the U.S. national library of medicine
• The National Institute of Neurological Disorders and Stroke

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