Alpha-thalassemia/mental retardation syndrome, x-linked

Treatment

What are the first steps after an initial diagnosis of alpha-thalassemia X-linked intellectual disability syndrome?

Getting a diagnosis of alpha-thalassemia X-linked intellectual disability syndrome can be overwhelming for a family. Because it is a relatively rare condition, most families have not heard of this condition prior to the diagnosis being made. The first step to take once the diagnosis is made is to have a visit with a genetics professional such as a medical geneticist and/or a genetic counselor to discuss what the condition is, what this means for your family, and how to manage the medical and developmental issues that may come from having this diagnosis. They can make sure that the appropriate management and treatment plan is in place. It is also essential to get information from trustworthy sources. Your genetic counselor can provide you with additional, specific written and online sources of information about alpha-thalassemia X-linked intellectual disability syndrome. Some general information about alpha-thalassemia X-linked intellectual disability syndrome is available through Genetics Home Reference: https://ghr.nlm.nih.gov/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome. General information about rare diseases and peer support can be found though the National Organization for Rare Disorders: http://rarediseases.org/.

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Is there a treatment for alpha-thalassemia X-linked intellectual disability syndrome?

Is there a treatment for alpha-thalassemia X-linked intellectual disability syndrome?

There is no cure for alpha-thalassemia X-linked intellectual disability syndrome. Nevertheless, there are many treatments that can help with the individual symptoms that an affected person may have. Because every person with this condition is different, the particular treatments one affected individual undergoes will likely be different from another affected individual. Treatments are also dependent on the age of the affected individual.

Some treatments for the most common symptoms of alpha-thalassemia X-linked intellectual disability syndrome may include:

  • Dietary supplementation (e.g. calorie-rich formula) to increase nutritional intake
  • Treatment for gastrointestinal reflux, respiratory infections, and urinary tract infections
  • Surgery to correct heart defects, genital anomalies, and cleft palate
  • Seizure medication and control
  • Early intervention for speech, occupational and physical therapies

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