THE EFFECT OF A SPECIALIZED PHYSIOTHERAPY PROGRAM IN AN INFANT WITH A RARE GENETIC DISEASE

ABSTRACT Introduction: The specialized physiotherapy program is a set of purposeful techniques and methodologies, profiled for work with children. Early physical therapy intervention is essential for the prevention and reduction of the pathological impact on the neuromotor capabilities of children with neurological impairment caused by a genetic disease. Purpose: The aim of the study is to monitor the effectiveness of a specialized physiotherapy program in a child with a deviation in neuromotor development. The therapy was performed 5 times a week for 3 months. The object of the study is the influence of physiotherapy in case of deviation in the neuromotor development of an infant with a rare genetic disease. The contingent of the study is 1 infant with a rare genetic disease - isovaleric acidemia and is the only case of a patient with such a disease in Bulgaria. The infant is 9 months old (7 adjusted months). The deviations are expressed in pathologically amplified and persistent primitive reflexes and delay in motor development. We assessed gross motor development by the method of Gross Motor Function Measure – 88 in the beginning and then made a reassessment on the 3rd month from the beginning of the therapy. Results: The analysis of the results shows that the specialized physiotherapy program influenced the neuromotor development of the patient - helping to integrate primitive reflexes; to develop and improve motor skills. Conclusions: Specialized physiotherapy is an effective treatment for neuromotor deviation in infant with a rare genetic disease.