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

JIMD Reports
Anna BozanoDiego Dolcetta

Abstract

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. 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. 60 observational sessions, for over 90 total hours, led to the description of 292 LNBs, interfering with different aspects of life. Harmful behaviors could be classified into different categories, based on the life aspect affected and type of harm provoked. Antecedent conditions, consequent reactions, and emotions of the child and different management of the caregiver were recorded for each LNB. We confirmed that patients normally feel pain. Most common emotional reactions are regret and shock. As a consequence of a LNB, increased anxiety was always recorded, never sa...Continue Reading

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Citations

May 1, 2021·Postgraduate Medical Journal·Lamiaa HamieMazen Kurban

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