Helsmoortel-Van der Aa syndrome – psychophysical functioning of patient and therapeutic management (case report)

Abstract

Abstract Introduction. Helsmoortel-Van der Aa syndrome (HVDAS) is a rare neurodevelopmental disorder caused by a mutation in the ADNP gene. Many previous studies concern the basis of the disease, but there is also a need to focus on the therapeutic aspect of people with HVDAS. Case presentation. The aim of this article is a multi-faceted characteristic of the psychophysical functioning of a person with Helsmoortel-Van der Aa syndrome and indication of appropriate therapeutic interactions (the presentation of possible forms of patient support and selected therapeutic methods that are used in clinical practice in this disease entity). A case study of a 13-year-old female patient diagnosed with the HVDAS is presented. The case report was extended to include family history data and observation of the patient during cyclical therapeutic classes. Conclusion. The performed characterization of the patient's psychophysical condition allows us to conclude that the clinical picture of the Helsmoortel-Van der Aa syndrome is very complex and diverse, as it affects various levels of a person's functioning. The therapeutic procedure should be multifaceted, taking into account both health needs and current physiological fitness, as well as the need for appropriate developmental stimulation. The developed therapeutic procedure extends the patient's functional abilities and increases the comfort of his everyday life.