Smartphone app may help diagnose rare genetic disease

Researchers from Kaunas University of Technology (KTU) in Lithuania have created a smartphone application. This application is said to help diagnose the rare genetic disorder. Researchers say, “The Neural Impairment Test Suite app to identify and diagnose the early symptoms of a rare genetic disorder”. This app is designed to evaluate user’s motor, cognitive skills, to detect voice and energy consumption disorders. The Neural Impairment Test Suite app provides its user with a series of tests in order to check the presence of the symptoms. If the probability of symptoms is detected, the user is informed and encouraged to contact medical professional for further advice.


Huntington disease, a progressive brain disorder causes uncontrolled movements, emotional problems and loss of thinking ability. Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person’s thirties or forties. Individuals with the adult-onset form of Huntington disease usually live about 15-20 years after the symptoms begin. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination and trouble learning new information or making decisions. All these symptoms are very difficult to notice. If a parent has the gene, each child has a one in two chance of inheriting the disease. Andrew Lauraitis, KTU doctoral student says, “Our app is aimed at the early detection. We are attempting to diagnose the disease when visually there are no symptoms.


According to Professor Rytis Maskeliunas, KTU, the app provides additional information and allows automisation of the process, but isn’t trying to replace medical diagnosis. He also says, “Although there is no known treatment for Huntington’s disease, it is estimated that a patient can gain 3-16 years of healthy life if the disease is diagnosed early." The Neural Impairment Test Suite app is a collection of various tests available to smartphone users on Google Play. The tasks on the app are designed to evaluate the user’s motor, cognitive skills, detection of voice and energy consumption disorders. This app can also be used to evaluate other neurodegenerative diseases such as Parkinson’s, Alzheimer’s or dementia. KTU scientists say, “Usually in medical practice similar diagnostic tests are provided on paper, but this is the first attempt to digitalize the instrument.


Depending on the degree of risk of developing the disease, the user can take the test once a week or more often; the data is being stored in the user’s profile. The model developed by KTU scientists is counting the values and predictions according to the indicators of the progress of the disease. The Neural Impairment Test Suite app is one-of-a-kind, as the technological devices in the context of this disease haven’t been investigated yet.

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