1/8. Self-injurious behaviour in young children with lesch-nyhan syndrome.The early development of self-injurious behaviour in three young boys (aged 17, 25, and 30 months at start of study) with lesch-nyhan syndrome was examined by means of parental interviews and by direct observations completed at 3 to 4 monthly intervals over an 18-month period. Results suggest that the self-injury began in a different way from that of other young children with autism and/or developmental disabilities in that, from the start, self-injurious responses were sudden and violent, rather than emerging gradually over time. Drastic measures, such as removal of the teeth or provision of tooth guards, were often taken to prevent further tissue damage. Direct observations showed that the boys' self-injury occurred at lower rates, but their carers were highly concerned about the behaviour. Sequential analysis of the observational data indicated that on some occasions the children were more likely to self-injure during periods of low social interaction, suggesting that their self-injury may have been influenced by environmental factors. The theoretical and practical implications of these findings are discussed.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
2/8. lesch-nyhan syndrome: a preventive approach to self-mutilation.lesch-nyhan syndrome (LNS), a rare inborn error of metabolism, is characterized by self-injurious behaviour, which results in partial or total destruction of oral and perioral tissues and/or fingers and hands. Prevention of self-mutilation raises significant difficulties. Treatment modalities include drug therapy, extraction of teeth, oral appliances and orthognathic surgery, all with variable success. A case of a 10-year-old boy with aggressive behaviour and severe lower lip injuries is presented. A palatal plate fabricated to raise the anterior bite proved to have satisfactory results. Although two adjustments were required during the recall visits, the effectiveness of the appliance in assisting healing of soft tissue damage was immediate and still apparent during the 3 years and 8 month follow-up period.- - - - - - - - - - ranking = 0.33333333333333keywords = behaviour (Clic here for more details about this article) |
3/8. Case report: the lesch-nyhan syndrome.BACKGROUND: The lesch-nyhan syndrome (LNS) is a rare x-linked excessive disorder of purine metabolism, caused by the congenital absence of hypoxanthine guanine phosphoribosyl transferase (HGPRT). CASE REPORT: In January 2000 a 2 year old boy was referred to a paediatric dental office in Landshut, germany, because of severe and repeated lip chewing and aggressive tongue biting. A medical history revealed a normal pregnancy with no complications but a diagnosis of muscular hypotonia was made at four months of age. At 18 months a diagnosis of LNS was established through biochemical analysis and molecular examinations. The child displayed self-destructive behaviour, typical in children with LNS. Shortly thereafter the patient was supplied with arm cuffs for self-protection which were not tolerated and the self-mutilation continued. Eventually the extraction of all primary teeth was deemed necessary to prevent additional medical problems for this child. FOLLOW-UP: One year after the dental extractions the patient presented with no bite injuries but was now using his fingers to injure himself.- - - - - - - - - - ranking = 0.16666666666667keywords = behaviour (Clic here for more details about this article) |
4/8. Self-mutilation behaviour in lesch-nyhan syndrome.lesch-nyhan syndrome (LNS), first described in 1964 by Lesch and Nyhan, is a rare X-linked genetic disorder involving (near) absence of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT). It occurs in 1:100,000 to 380,000 live births (1, 2). The deficiency of HPRT activity leads to an excessive uric acid production resulting in neurological, renal and musculoskeletal manifestations. death usually occurs in the second or third decade from infection or renal failure. Clinical presentation is characterized by mental retardation, choreoathetosis, spasticity, hyperuricemia and cerebral palsy. A characteristic feature of LNS is the appearance of intractable self-injurious behaviour (SIB), usually in the form of severe lip and finger biting, gouging of eyes, face scratching and head banging requiring extreme management techniques such as the application of restraints and or extraction of teeth at an early age. In this case report a unique approach of SIB in LNS is presented.- - - - - - - - - - ranking = 0.83333333333333keywords = behaviour (Clic here for more details about this article) |
5/8. Disassembly of microtubules in the lesch-nyhan syndrome? (lesch-nyhan syndrome and microtubules).The lesch-nyhan syndrome is an unusual disease. It combines neurological disorders, behavioural disturbances, metabolic changes and haematological symptoms. The syndrome is caused by an X-chromosomal transmitted enzyme deficiency of the 'salvage pathway' in purine metabolism. The hitherto unexplained pathogenesis was the reason for investigations into metabolism and morphology of the blood cells of a patient suffering from the syndrome. Along with the defect in guanine nucleotide resynthesis there was a defect of microtubules in platelets and a sphaerocytosis in red cells, which could be the result of a disassembly of structural proteins. The development and maintenance of the highly heteromorphic structure of nerve cells and the neuronal function including axonal transport of cell organelles and transmitters is dependent on microtubules. Thus a disassembly of microtubules could be the mechanism in the pathogenesis of this complex syndrome.- - - - - - - - - - ranking = 0.16666666666667keywords = behaviour (Clic here for more details about this article) |
6/8. Treatment package to reduce SIB in a Lesch-Nyhan patient.Self-destructive behaviour in LNS children results in a tremendous burden to parents, teachers, staff members, and other responsible for their care. As constant vigilance is not always feasible, developing alternate methods of managing SIB becomes imperative. This report presents our efforts to improve the care of an LNS child and to ease the burden on staff members and parents by obtaining special devices (e.g. the custom-made mouthguard and the gloves) to prevent him from injuring himself. Others (e.g. Letts & Hobson, 1975) have likewise reported success in fabricating custom-designed chairs and devices in an effort to manage SIB in LNS children. Their devices were, however, more elaborate and much more expensive than the ones used in this report. The cost of obtaining a mouthguard similar to the one used with K. is estimated at between $20-$30 (US), while the gloves cost only $14.00. The major advantages of using such devices are that they safely allow employment of the extinction procedure along with allowing the child to participate more fully in activities of daily living. It is recognized that K. was in some ways an atypical Lesch-Nyhan child in that he possessed low normal receptive intelligence and scored fairly high (relative to most LNS children) on a test of verbal intelligence. His cognitive and verbal abilities made him a unique case in that he responded favourably to therapeutic instructions regarding relaxation and self-control tactics. The therapists were able to rely on K.'s verbalizations and feelings about his biting in structuring the treatment approach.(ABSTRACT TRUNCATED AT 250 WORDS)- - - - - - - - - - ranking = 0.16666666666667keywords = behaviour (Clic here for more details about this article) |
7/8. behavior therapy for a child with lesch-nyhan syndrome.The behavioural symptoms in a 10-year-old boy with lesch-nyhan syndrome were effectively ameliorated by the behavior therapy techniques of systematic desensitization and extinction. Therapy was undertaken in a highly controlled environment. The hypothesis that the self-destructive behaviours in this syndrome were voluntary and maintained through continuous reinforcement was confirmed. Characteristic biting and other maladaptive behaviours were extinguished. Over a period of time it was possible to remove all the physical restraints previously used to prevent the boy injuring himself. During treatment his anxiety, associated with phobic reaction to being unrestrained, was reduced by nitrous oxide. At 1 1/2 years follow-up the boy continues to be symptom-free. He attends a special class at school and is learning to walk with crutches. It is emphasied that a trained and experienced therapist and a controlled environment are essential for the success of this form of behaviour therapy, and the dangers inherent in this method of treatment are discussed.- - - - - - - - - - ranking = 0.66666666666667keywords = behaviour (Clic here for more details about this article) |
8/8. The orofacial manifestations of the lesch-nyhan syndrome.The lesch-nyhan syndrome is a rare sex-linked inborn error of purine metabolism characterised by hyperuricaemia, mental handicap, neurologic disorders, and self-destructive behaviour. The literature is reviewed and a 12-year-old patient exhibiting mutilation of the lip and tongue is reported.- - - - - - - - - - ranking = 0.16666666666667keywords = behaviour (Clic here for more details about this article) |