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Operant studies of self-injurious hand biting in the Rett syndrome.

Two children with Rett syndrome were treated for their self-injurious hand biting. Results of an operant assessment showed that in both cases the behavior functioned as a self-stimulatory response. Differential reinforcement, combined with a response interruption technique, produced large reductions in the hand biting of both girls and increases in the motor performance (instruction following, toy play) of one girl. These results suggest that further operant investigations may be helpful in the understanding and management of the behavioral symptoms found in Rett syndrome.

Bites, Human↗

Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2)

We report clinical and cytogenetic findings of 4 children (2 boys and 2 girls) with the Smith-Magenis syndrome. All 4 patients had an interstitial deletion of 17p: del(17) (p11.2p11.2). Their clinical manifestations included brachycephaly, midface hypoplasia, prognathism, upper lip eversion, short and broad hands with short fingers, clinodactyly of the fifth fingers, fingertip pads, moderate mental retardation, and behavior problems. Analysis of the metacarpophalangeal pattern profiles in patient 2 showed progressive shortness from the metacarpals to the proximal, middle, and the distal phalanges. The fingerpads observed in all 4 patients have hitherto been noted in only one of 26 previously reported patients with the syndrome. These findings serve as a useful clue to the diagnosis of the syndrome.

Abnormalities, Multiple↗

Naltrexone decreases self-injurious behavior.

The effect of naltrexone (0.5, 1.0, 1.5, and 2.0 mg/kg) on the frequency of self-injurious behavior (SIB) was investigated in three male adolescents. The frequency of total SIB was reduced significantly in all three subjects; dose-dependent decreases (at 0.5, 1.0, and 1.5 mg/kg) in SIB frequency were observed in the two mentally retarded subjects. These data suggest a role for opioid peptides in SIB.

Adolescent↗

Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters.

We studied 5 boys, 2 to 10 years old, with marked or complete deficiency of hypoxanthine-guanine phosphoribosyltransferase and Lesch-Nyhan syndrome with varying degrees of mental retardation, dysarthria, chorea, dystonia, spasticity, and ataxia. Four patients had marked reduction of homovanillic acid in the cerebrospinal fluid (CSF) and all showed low CSF 3-methoxy-4-hydroxy phenylethylene glycol, indicating reduced dopamine and norepinephrine turnover. Three patients showed high CSF 5-hydroxyindoleacetic acid, suggesting increased serotonin turnover. Some patients improved with carbidopa-levodopa, but others benefited from tetrabenazine, a monoamine-depleting agent. This study provides support for the theory of abnormal central monoamine metabolism in Lesch-Nyhan syndrome.

Carbidopa↗

Solitary rectal ulcer: always a self-induced condition?

Solitary rectal ulcer is a curious and uncommon condition of contentious aetiology. Six patients seen at Gloucestershire Royal Hospital during 5 years have been studied. In 4 self-interference was certain and likely in one other; no information was available concerning the sixth. Our evidence suggests that the disease is self-induced.

Adolescent↗

Artefactual breast disease: a report of three cases.

Three cases of suspected artefactual conditions of the breast are presented, one case each of recurrent bleeding, recurrent infection and atypical eczema. Involvement of the breast is rare, but may go undiagnosed in many cases. Patients are usually married and in the second half of their reproductive life. An unusual pattern of disease appearance and behavior, lack of response to treatment, inappropriate affect and a request for mastectomy are helpful in suggesting the diagnosis. A disturbance in personal relationships can often be elucidated by psychiatric assessment. Treatment is difficult and may be limited to suspecting the diagnosis, excluding organic disease and avoiding unnecessary and repetitive surgery.

Adult↗

Artificial deformation of the human skull: a review.

Early examples of intentional human cranial deformation predate written history. Intentional cranial deformation as an extreme has seemingly not persisted into this century. However, mild forms of this manipulation are still practiced by various groups worldwide. Accidental cranial deformation or mild forms of intentional cranial deformation may be encountered by the clinician or anatomist. We review the literature regarding intentional manipulation of the human cranium.

History, 19th Century↗