An autism and mitochondrial disease diagnosis can be overwhelming for parents. Early detection and intervention are important, especially when it comes to developmental delays. Resources specific to mitochondrial dysfunction paired with autism therapies can yield excellent results.
What Is Mitochondrial Disease?
Mitochondria are energy-producing parts present in all of the body's cells aside from red blood cells. These parts of the cells convert oxygen and sugar to energy, creating more than 90 percent of the energy necessary for proper function. Dysfunction in the mitochondria causes them to produce progressively less energy, which can lead to cell damage or cell death over time. As the process of cell damage and death repeats, the body's systems begin to fail.
Since mitochondria are present in all cells of the body except red blood cells, the disease can affect nearly any system of the body. According to The Mitochondrial Disease Foundation, the disease affects certain parts of the body most severely:
- Brain
- Endocrine system
- Kidneys
- Heart
- Liver
- Respiratory system
- Skeletal muscles
The symptoms of the disease depend on which cells are damaged. When the brain is affected, the person may have trouble with muscle control and developmental delays. The presence of a pervasive developmental delay leads to possible connections between autism and mitochondrial disorder. In some cases, a person may be diagnosed with both conditions at once. Since no known cause or cure for either condition exist, the dual diagnosis can be difficult to deal with.
Autism and Mitochondrial Disease Diagnosis
A dual autism and mitochondrial disease diagnosis may signal that the symptoms of the autistic disorders are related. The Center for Disease Control and Prevention (CDC) explains that a person diagnosed with mitochondrial disease may have a pervasive developmental disorder as well. In some cases, the patient may have some of the symptoms of autism without meeting the criteria for formal diagnosis. A person with mitochondrial disease may not show any signs of autism at all.
The relationship between mitochondrial disease and autism is similar to the relationship between autism and fragile X. Both fragile X and mitochondrial disorder are distinct conditions that may or may not appear with the symptoms of autistic disorders. The relationship between the conditions is still a mystery but they do point to a possible genetic cause for autism.
Dual Diagnosis
Receiving a dual diagnosis can be difficult to digest, especially when the diagnoses are for conditions that are unexplained. In addition, a person with a diagnosis of autistic disorder and mitochondrial dysfunction may experience other complications. According to the CDC, the complications can include:
- Low muscle tone
- Movement disorders
- Epilepsy
United Mitochondrial Disease Foundation
Among the most outstanding resources for families affected by mitochondrial disorders is the United Mitochondrial Disease Foundation. The organization's mission is to provide support for families and individuals affected by the disorder and to encourage spreading information about the conditions. The UMDF also funds research into diagnosing, treating and curing mitochondrial disease. This organization has asearch feature that connects visitors to local resources. The database is searchable by state and an international search is available for quick reference.
Getting Help
The fundamental problem is that little research about the relationship between mitochondrial dysfunction and autism has been conducted. More studies are necessary to provide answers. So what should parents of a child diagnosed with mitochondrial disease and autism do? They can benefit from learning as much about each disorder as possible in order to determine which course of action to take. The United Mitochondrial Disease Foundation is an excellent place to start.
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