Behavioral contingencies and self-mutilation in Lesch-Nyhan disease.

Abstract

demonstrating the specific enzyme defect in red or white blood cells or skin fibroblasts. Family patterns of inheritance and mosaicism in tissues of the obligatory heterozygote (Migeon, Der Kaloustian, & Nyhan, 1968;Silver, Cox, Balis, & Dancis, 1972) indicate an X-linked recessive disease. Management strategies are supportive of kidney function by preventing excessive production of uric acid with allopurinol, thereby greatly increasing life expectancy. Questions concerning procedures for managing the behavioral consequences of the illness and for optimizing the life adjustment of these children thus become relevant.One of the most striking and disabling characteristics of the disease is a pattern of self-injurious behavior (SIB) that affects virtually all Lesch-Nyhan children (Lesch & Nyhan, 1964). Near the end of the second year of life, they begin to bite their fingers, lips, or arms with sufficient force to cause lacerations, expose tendons, and even amputate fingertips. If not prevented, SIB occurs at a very high rate, accompanied by general agitation and crying. Reliance on tubular arm splint restraints to prevent finger biting and extraction of teeth to prevent lip biting have constituted the only therapeutic approach to SIB in Lesch-Nyhan children.Although no direct studies have been reported that demonstrate normal pain sensi-

Self-biting with multiple finger amputations following spinal cord injury

“…Self-biting has been noted in cases of microcephaly (Singh, 1980), following neonatal brain damage (Gross, 1980), and in mental retardation (Dorsey, 1982;Gaylord-Ross, 1980;Lockwood, 1982). Lesch-Nyhan Syndrome (LNS), an X-linked inborn error of metabolism, is characterised by mental retardation, spastic cerebral palsy, choreoathetosis, and compulsive self-biting of the lips, fingers, and hands (Anderson, 1978;Christie, 1982;Cudzinowski, 1979;Duker, 1975;Lesch, 1964;Nyhan, 1972;Nyhan, 1980). In one series, 3 of 15 hand/finger biters with LNS self-amputated portions of digits (Christie, 1982).…”

“…Unlike these patient groups, our SCI patients had normal intellectual function. Unlike LNS patients, in whom sensory path ways are intact (Anderson, 1978;Cudzinowski, 1979;Seegmiller, 1980) congenital sensory neuropathy with anhidrosis begin self-chewing with the eruption of primary incisors (Lee, 1976;Mazar, 1976;Thompson, 1980). They are generally of low intelligence, with emotional disorders including autistic behaviour.…”

Self-injurious behaviour in young children with Lesch-Nyhan syndrome

“…Thirdly, the boys and young men seem to welcome protective restraining devices and appear to become extremely agitated when these are removed (Christie et al, 1982;Anderson & Ernst, 1994). Conflicting evidence concerning the biological nature of SIB in Lesch-Nyhan syndrome comes from a number of studies that have documented the influence of social and environmental factors in the maintenance of SIB (Duker, 1975;Anderson et al, 1978;Bull & LaVecchio, 1978;Gilbert et al, 1979;Wurtele et al, 1984). Anderson et al, (1978) found that SIB increased in one child when it was followed by social attention, and behavioural treatments that involved a re-arrangement of environmental contingencies (e.g., extinction, DRO, and extinction plus DRO) reduced rates of SIB in five boys, at least in the short term.…”

“…Interestingly, in studies conducted by Anderson et al, (1977Anderson et al, ( , 1978 punishment by contingent shock appeared to be completely ineffective in reducing rates of SIB, suggesting that individuals with Lesch-Nyhan syndrome are unable to learn to avoid aversive stimulation.…”

“…Conflicting evidence concerning the biological nature of SIB in Lesch-Nyhan syndrome comes from a number of studies that have documented the influence of social and environmental factors in the maintenance of SIB (Duker, 1975;Anderson et al, 1978;Bull & LaVecchio, 1978;Gilbert et al, 1979;Wurtele et al, 1984). Anderson et al, (1978) found that SIB increased in one child when it was followed by social attention, and behavioural treatments that involved a re-arrangement of environmental contingencies (e.g., extinction, DRO, and extinction plus DRO) reduced rates of SIB in five boys, at least in the short term. Duker (1975) also reported that ignoring one boy's self-biting resulted in a decrease in SIB, suggesting that the boy's SIB may, in the past, have been reinforced by social attention.…”