Browse Items (58 total)

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…

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…

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…

We surveyed 64 individuals with the diagnosis of Brachmann-de Lange syndrome (BDLS) to determine the natural course and cause of the disorder. The 64 individuals were ascertained through membership in a national organization, the Cornelia de Lange…

Sleep disorders were investigated in 40 children with tuberous sclerosis (TS) and compared with those found in non-disabled children and those reported in a mixed group with learning disabilities. Significantly higher levels of sleep disturbance were…

We obtained information about the behavioral, psychiatric, and functional status of 26 children (13 males, 13 females) with juvenile neuronal ceroid lipofuscinosis (JNCL; mean age 12y 3mo [SD 3y 4mo]; range 6y 9mo to 18y 8mo). Twenty-five children…

BACKGROUND: There has been limited empirical research into the environmental causes of self-injury in Cornelia de Lange syndrome. The present study examined the variability of self-injurious behaviour in Cornelia de Lange syndrome across…

Four patients with Lesch Nyhan disease were treated with L 5 hydroxytryptophan, alone, or in combination with carbidopa, and their effect on self mutilatory behavior was compared to that observed during periods in which placebo was administered.…

[Purpose] This study aimed to examine problematic behaviors of mentally handicapped children receiving pediatric physical therapy, through applying the Japanese version of the Aberrant Behavior Checklist(ABC-J) to persons receiving pediatric physical…
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