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What are mitochondrial diseases
or disorders?
Mitochondria are tiny parts of almost every cell in your
body. Mitochondria are like the power house of the cells.
They turn sugar and oxygen into energy that the cells need
to work.
In mitochondrial diseases, the mitochondria cannot
efficiently turn sugar and oxygen into energy, so the cells
do not work correctly.
There are many types of mitochondrial disease, and they
can affect different parts of the body: the brain, kidneys,
muscles, heart, eyes, ears, and others. Mitochondrial
diseases can affect one part of the body or can affect many
parts. They can affect those part(s) mildly or very
seriously.
Not everyone with a mitochondrial disease will show
symptoms. However, when discussing the group of
mitochondrial diseases that tend to affect children,
symptoms usually appear in the toddler and preschool years.
Mitochondrial diseases and disorders are the same thing.
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Is
there a relationship between mitochondrial disease and
autism?
A child with a mitochondrial disease:
- may also have an autism spectrum disorder,
- may have some of the symptoms/signs of autism, or
- may not have any signs or symptoms related to
autism.
A child with autism may or may not have a mitochondrial
disease. When a child has both autism and a mitochondrial
disease, they sometimes have other problems as well,
including epilepsy, problems with muscle tone, and/or
movement disorders.
More research is needed to find out how common it is for
people to have autism and a mitochondrial disorder. Right
now, it seems rare. In general, more research about
mitochondrial disease and autism is needed.
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What is regressive
encephalopathy?
Encephalopathy is a medical term for a disease or
disorder of the brain. It usually means a slowing down of
brain function.
Regression happens when a person loses skills that they
used to have like walking or talking or even being social.
Regressive encephalopathy means there is a disease or
disorder in the brain that makes a person lose skills they
once had.
We know that sometimes children with mitochondrial
diseases seem to be developing as they should, but around
toddler or preschool age, they regress. The disease was
there all the time, but something happens that “sets it
off”. This could be something like malnutrition, an illness
such as flu, a high fever, dehydration, or it could be
something else.
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Is there a
relationship between autism and encephalopathy?
Most children with an autism spectrum disorder do not and
have not had an encephalopathy. Some children with an
autism spectrum disorder have had regression and some have
had a regressive encephalopathy.
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What do we know about
the relationship between mitochondrial disease and other
disorders related to the brain?
Different parts of the brain have different
functions. The area of the brain that is damaged by
a mitochondrial disease determines how the person is
impacted. This means that a person could have seizures;
trouble talking or interacting with people; difficulty
eating; muscle weakness, or other problems. They could have
one issue or several.
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Do vaccines cause or worsen
mitochondrial diseases?
As of now, there are no scientific studies that say
vaccines cause or worsen mitochondrial diseases. We do know
that certain illnesses that can be prevented by vaccines,
such as the flu, can trigger the regression that is related
to a mitochondrial disease. More research is needed to
determine if there are rare cases where underlying
mitochondrial disorders are triggered by anything related to
vaccines. However, we know that for most children, vaccines
are a safe and important way to prevent them from getting
life-threatening diseases.
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Are all children
routinely tested for mitochondrial diseases? What about
children with autism?
Children are not routinely tested for mitochondrial
diseases. This includes children with autism and other
developmental delays.
Testing is not easy and may involve getting multiple
samples of blood, and often samples of muscle. Doctors
decide whether testing for mitochondrial diseases should be
done based on a child's signs and symptoms.
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Should I have my child
tested for a mitochondrial disease?
If you are worried that your child might have a
mitochondrial disease, talk to your child’s doctor.
