Description of the Lesch-Nyhan neurobehavioral disorder and its management through participant observation of three young individuals.

Background: Lesch-Nyhan disease (LND; OMIM 300322), caused by virtually absent hypoxanthine-guanine phosphoribosyltransferase activity, in its classic form is characterised by hyperuricemia, variable cognitive impairment, severe motor disorder and a characteristic behavioural disorder (Lesch-Nyhan Behavior, LNB), typically described as self-injurious behavior (SIB) and "self-mutilation." This work focuses on the latter aspect with the aim of exploring and broadening it.

Methods: The participant observation method was used to follow three children diagnosed with LND individually, in different contexts of daily life, always with their usual restraints and in the presence of a caregiver.