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What is Aicardi-Goutières Syndrome?

Feb 29th, 2024 | by Jonty Beavan

Jonty Beavan

February 29th, 2024

What is Aicardi-Goutières Syndrome?

Aicardi-Goutières syndrome is a genetic progressive neurological condition, caused by a mutation in one of the genes which impacts interferon production. Interferon is a commonly found substance in the body which assists the immune system in addressing health threats. People with Aicardi-Goutières syndrome have excessive interferon production, which causes the body to overreact to threats.

What is the Cause of Aicardi-Goutières Syndrome?

Aicardi-Goutières syndrome can be caused by a mutation in a few of the genes which impact interferon production. The most common mutations are passed on in an autosomal recessive pattern. This means that both parents carry a copy of the mutated gene and pass it on to the child, a 1 in 4 chance. Less commonly, some of the mutations are passed on in an autosomal dominant pattern. This means that only one copy of the mutated gene is passed on from a parent. Rarer yet, there is a spontaneous mutation in which neither parent passes on the mutated gene, but instead, the mutation occurs unexpectedly in the child.

What Are Some Signs and Symptoms of Aicardi-Goutières Syndrome?

Initially, kids with early onset Aicardi-Goutières syndrome may present with:

  • Behavioural changes (jittery/irritable)
  • Poor feeding ability
  • Neurological complications (seizures)
  • Liver abnormalities and inflammation
  • Skin rashes

 

Later onset Aicardi-Goutières syndrome symptoms can also include:

  • Weak and stiff muscles
  • Inconsolable crying
  • Intermittent unexplained fever
  • Developmental delays
  • A decline in head growth
  • Skin problems, including rashes and lesions

Aicardi-Goutières syndrome also has a big impact on the body’s organs, as the condition proceeds to impact the lungs, eyes, thyroids, pancreas, liver, heart, and blood vessels. Children will consequently need to be monitored for changes in these areas and may present with symptoms related to any such changes.

What Are Some Treatment Options for Aicardi-Goutières Syndrome?

Currently, there is no cure for Aicardi-Goutières syndrome. Recent studies have trialed some neurotransmitter inhibitors to limit the effect of excessive interferon; however, these are yet to be fully implemented. Meanwhile, children with Aicardi-Goutières syndrome continue to benefit from a multidisciplinary team approach with physiotherapy, occupational therapy, and speech therapy, helping to manage the physical, behavioural, and intellectual changes associated with Aicardi-Goutières syndrome, helping children to reach functional milestones more quickly. While this isn’t a cure for the underlying condition, symptom management can play an essential role in maintaining the quality of life for both children and carers alike by helping manage the carer burden and increase the functional independence of children presenting with this condition.

About NAPA Centre

In this blog, we discuss causes, characteristics, therapy and treatment options for Down syndrome.At NAPA Centre, we take an individualised approach to therapy because we understand that each child is unique with very specific needs. We embrace differences with an understanding that individualised programs work better. For this reason, no two therapeutic programs are alike. If your child needs our services, we will work closely with you to select the best therapies for them, creating a customised program specific to your child’s needs and your family’s goals. Let your child’s journey begin today by contacting us to learn more.

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