Autism is a type of developmental disorder that affects communication and behavior skills. It typically appears during childhood and can be diagnosed through a series of tests.

However, there is a rare illness that causes symptoms that are similar to autism but are caused by something else. We are going to explore this unique illness, its symptoms, causes, and treatment in this article.

What is the Illness?

Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder that affects how the body produces cholesterol7. The body needs cholesterol to develop properly, but people with SLOS have trouble producing enough of it.

This can lead to a range of symptoms, including developmental delays, poor growth, facial abnormalities, and symptoms similar to autism.

What are the Symptoms?

SLOS affects people differently, but some of the most common symptoms include:.

– Difficulty sleeping
– Behavioral problems
– Intellectual disabilities
– Gastrointestinal problems
– Physical abnormalities, such as cleft palate or webbed toes
– Sensitivity to light and sound

The similarities between SLOS and autism can cause confusion when trying to diagnose a child. Both conditions can include poor communication skills, difficulty interacting in social situations, and repetitive behaviors.

However, there are some differences between the two conditions. For example, people with SLOS may have physical abnormalities that are not present in people with autism.

What Causes SLOS?

SLOS is caused by a genetic mutation that affects the body’s ability to produce cholesterol. The mutation occurs in the DHCR7 gene, which provides instructions to make an enzyme involved in cholesterol production.

When the enzyme is missing or not working correctly, it can cause a range of symptoms associated with SLOS.

SLOS is an autosomal recessive disorder, which means a child must inherit two copies of the mutated gene, one from each parent, to develop the condition.

If both parents have one copy of the mutated gene, there is a 25% chance that their child will develop SLOS.

How is SLOS Diagnosed?

SLOS can be detected through a blood test that measures the amount of 7-dehydrocholesterol in the blood. This compound is a precursor to cholesterol and is typically converted into cholesterol by the body.

However, people with SLOS have trouble converting it, leading to high levels in the blood.

If a doctor suspects SLOS, they may also perform genetic testing to look for mutations in the DHCR7 gene. This can confirm the diagnosis and help determine if other family members may be at risk for having a child with SLOS.

How is SLOS Treated?

Currently, there is no cure for SLOS. Treatment focuses on managing the symptoms and preventing complications from the condition.

This can include things like early intervention services to help children with developmental delays, medication to control behavioral problems, and addressing physical abnormalities as needed.

There is also ongoing research into potential treatments for SLOS. For example, some researchers are studying the use of cholesterol supplements to help bypass the body’s inability to produce enough cholesterol on its own.

Conclusion

SLOS may be a rare illness, but it is an important one to be aware of, especially for parents and doctors who work with children who exhibit symptoms similar to autism.

While SLOS can be challenging to diagnose, prompt detection and treatment can help manage the symptoms and improve outcomes for those affected by the condition.