Abstract
BackgroundLesch‐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.MethodsThe 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.Results60 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 satisfaction. Caregiver strategies most commonly used to stop the LNB and preventing recurrences are reported and discussed.ConclusionsWe are proposing a wider LNB description, beyond the classical Self‐injurious behavior (SIB), stating that it is widespread and pervasive, involving every facet of the patients' life. Caregivers and operators should be aware that they might face different LNBs, and have to recognize them to find the better way to manage patients.
Highlights
Lesch-Nyhan disease (LND, OMIM 300322) is a very rare X-linked disorder due to deficiency of hypoxanthineguanine phosphoribosyltransferase (HPRT)
The behavioural disorder in LND is typically described in literature with the terms self-injurious behavior (SIB)
We considered the operational concept of “Lesch-Nyhan Behavior” (LNB), that is, any compulsive, ego-dystonic action, with an unusual pattern of movement in terms of strength, speed, and precision, causing harm to the individual
Summary
Lesch-Nyhan disease (LND, OMIM 300322) is a very rare X-linked disorder due to deficiency of hypoxanthineguanine phosphoribosyltransferase (HPRT). Cognitive impairment is variable,[4,5,6] but its evaluation in LND patients is interfered by several disturbing motor and behavioural factors.[7]. The behavioural disorder in LND is typically described in literature with the terms self-injurious behavior (SIB). 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.”. Results: 60 observational sessions, for over 90 total hours, led to the description of 292 LNBs, interfering with different aspects of life. Antecedent conditions, consequent reactions, and emotions of the child and different management of the caregiver were recorded for each LNB. Conclusions: We are proposing a wider LNB description, beyond the classical Self-injurious behavior (SIB), stating that it is widespread and pervasive, JIMD Reports. 2020;52:63–71
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