Browse Items · Pediatric Palliative Care Library

Behavioral aspects of Lesch-Nyhan disease and its variants

Self-injury is a defining feature of lesch-nyhan disease (LND) but does not occur in the less severely affected Lesch-Nyhan variants (LNV). The aim of this study was to quantify behavioral and emotional abnormalities in LND and LNV. Thirty-nine…

Modes and patterns of self-mutilation in persons with Lesch-Nyhan disease

Lesch-Nyhan disease (LND) is a rare X-linked recessive genetic disorder associated with cognitive impairment, choreoathetosis, hyperuricemia, and the hallmark symptom of severe and involuntary self-mutilation. This study examines data gathered from a…

Serotonergic approaches to the modification of behavior in the Lesch-Nyhan syndrome

In a series of patients with the Lesch-Nyhan syndrome a pharmacologic attempt was made to alter the balance of biogenic amines in the central nervous system by increasing the level of serotin. Patients were treated with 5-hydroxytryptophan in…

Tags: 1980, 5-hydroxy-tryptophan, Applied Research in Mental Retardation, behavioral problems, Johnson H G, Jones K L, Kaufman I A, Lesch-Nyhan syndrome, Nyhan W L, pharmacologic intervention, Self-Injurious behavior

Prophylactic effect of L 5 hydroxytryptophan on self mutilation in the Lesch Nyhan syndrome

Four cases of the Lesch Nyhan syndrome found in the Tokyo area were given L 5 hydroxytryptophan orally. L 5 hydroxy tryptophan relieved self mutilation effectively without causing any side effects. However this substance did not alleviate…

Tags: 1975, behavioral problems, choreoathetosis, L-5-Hydroxytryptophan, L-Dopa, L-tryptophan, Lesch-Nyhan syndrome, Mizuno T, Neuropadiatrie, pharmacologic intervention, self-injury, tone and motor problems, Yugari Y

A double-blind, placebo-controlled, crossover trial of the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease

Lesch-Nyhan disease (LND) is a genetic disorder that has characteristic metabolic, neurologic, and behavioral features. There are multiple behavioral problems including impulsivity, aggressiveness, and severe recurrent self-injurious behavior (SIB).…

Tags: 2016, behavioral problems, Chipkin R, ecopipam, Jinnah H A, Khasnavis T, Lesch-Nyhan syndrome, Molecular Genetics and Metabolism, pharmacologic intervention, Puig J G, self-injury, Sommerfeld B, Torres R J

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…

Tags: 2001, behavioral problems, characteristics, Child Preschool, Developmental Medicine and Child Neurology, Environment, Extinction Psychological, Hall S, Humans, Lesch-Nyhan syndrome, Lesch-Nyhan Syndrome/diagnosis/prevention & control, Male, Murphy G, Oliver C, Self-Injurious Behavior/prevention & control, self-injury, Severity Of Illness Index, Sign Language, Trajectory

Levodopa is not a useful treatment for Lesch-Nyhan disease

Lesch-Nyhan disease (LND) is characterized by dystonia, cognitive abnormalities, and self-injurious behavior. No effective therapies are available. LND is associated with a presynaptic dopaminergic deficit, but the reported effects of dopamine…

Tags: 2011, behavior problems, Bloem B R, carbidopa, Jinnah H A, Lesch-Nyhan syndrome, levodopa, levodopa-dopa, Movement Disorders, pharmacologic intervention, Schretlen D J, tone and motor problems, Visser J E

Behavioral contingencies and self-mutilation in Lesch-Nyhan disease

Lesch-Nyhan syndrome is a rare, sex-linked, recessive disease that is accompanied by severe self-mutilation, especially finger biting. Evidence is presented suggesting that parental response patterns may contribute to the genesis of the…

Cognitive abilities of patients with Lesch-Nyhan disease

Parents of 42 patients with Lesch-Nyhan disease completed a questionnaire systematizing caregiver observations of the subject's behavior during a wide variety of daily events. Responses were grouped in nine categories reflecting different aspects of…

Tags: 1992, achievement, Adolescent, Adult, alertness, Anderson L T, attempted suicide, Awareness, Behavior Therapy, behavioral, characteristics, Child, Child Preschool, Combined Modality Therapy, Davis S V, Ernst M, Female, Humans, Intellectual Disability/di [Diagnosis], Intellectual Disability/px [Psychology], Intellectual Disability/th [Therapy], Intelligence, Journal of Autism and Developmental Disorders, Language Development Disorders/di [Diagnosis], Language Development Disorders/px [Psychology], Language Development Disorders/th [Therapy], Lesch-Nyhan syndrome, Lesch-Nyhan Syndrome/di [Diagnosis], Lesch-Nyhan Syndrome/px [Psychology], Lesch-Nyhan Syndrome/th [Therapy], Male, Neuropsychological Tests, Self-Injurious Behavior/di [Diagnosis], Self-Injurious Behavior/px [Psychology], Self-Injurious Behavior/th [Therapy], Social Adjustment, Social Behavior, Social Environment, Suicide, thinking, Trajectory

Self-injury in Lesch-Nyhan disease

UNLABELLED: Parents of 40 patients with Lesch-Nyhan disease completed a questionnaire detailing developmental history, life course, management, medication, factors influencing variability and topography of self-injury. Several conclusions were…

Tags: 1994, Adolescent, Adult, Aggression/px [Psychology], Anderson L T, Arousal, behavioral problems, characteristics, Child, Ernst M, Journal of Autism and Developmental Disorders, Lesch-Nyhan syndrome, self-injury, Trajectory

Deep brain stimulation in children: experience and technical pearls

OBJECT: Deep brain stimulation (DBS) is an established technique for the treatment of several movement disorders in adults. However, the technical approach, complications, and results of DBS in children have not been well documented. METHODS: A…

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