[Treatment for self-injurious behavior in mentally handicapped populations--a report from our practice].

OBJECTIVE: Self-injurious behavior (SIB) is a common problem in individuals with intellectual disabilities, yet its clinical management remains to be established. We aimed to clarify the background factors and profiles of SIB in mentally and physically handicapped subjects and subsequently examined the efficacy of treatments attempted in our practice in order to achieve a better understanding of SIB and appro- priate interventions in these populations. METHODS: We surveyed 92 mentally handicapped subjects with SIB (including 25 females and 67 males, most of whom also had physical disabilities) as outpatients or inpatients of our institution using a retrospective questionnaire com- pleted by the corresponding doctors. RESULTS: Regarding psychobehavioral complications, impulsive mood swings (such as sudden rage) were more frequent than other behaviors. As to probable triggers of SIB, the patient's physical condition (17 cases) and noise or the temperature of the surrounding environment (38 cases) were identified. A total of 81 of 92 patients were given a prescription for SIB. Risperidone was the most commonly prescribed drug (75 cases), found to be effective in 38 (50.6%) cases, whereas phenothiazine antipsychotics were often more effective in patients with profound SIB. SSRIs (selective serotonin reuptake inhibitors) were applied in 20 cases, being effective in only five (25%) patients and discontinued in 11 (55%) patients due to the onset of several side effects, including overexcitement. As an additional agent for mood control, the antiepileptic topiramate was effective in 10 (76.9%) of 13 cases. Aside from medication, equipment for elbow extension was beneficial in some of the patients with profound SIB. CONCLUSIONS: Pharmacological intervention is sometimes beneficial, albeit only partly. Clinicians must therefore also consider triggers and factors in the surrounding environment for the development of SIB in mentally handicapped individuals.

Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy.

Angiotensin II type-2 receptor gene (AGTR2) mutations have been recently detected in patients with mental retardation. AGTR2 plays a role in central nervous system development and cognitive functions. We identified a novel missense mutation of c.572G>A (p.G191E) in a 6-year-old boy showing severe mental retardation, pervasive developmental disorder, and epilepsy. This is the first report on AGTR2 mutation in a Japanese boy with mental retardation.

[An estimation chart for the possibility of aspiration in patients with severe motor and intellectual disabilities: its reliability and accuracy].

Although the most common cause of death in patients with severe motor and intellectual disabilities (SMID) is aspiration pneumonia, there are no criteria to detect aspiration. We have been making an evaluation tool to detect aspiration in patients with SMID easily, in cooperation with the project of comprehensive study of disability, social health, and welfare, supported by the Ministry of Health, Labor and Welfare, Japan. Here we studied the reliability and accuracy of the 2001 edition of the "questionnaires for functions of eating and swallowing" and "estimation chart for the possibility of aspiration" in 20 patients with risk of aspiration (13 with cerebral palsy, six with acquired cerebral palsy and one with muscle disease). Family members or nursing staffs taking care of them answered the questionnaires. A pediatrician and an occupational therapist or speech therapist checked the chart. Reliability was checked by the agreement between the estimation of the two professionals, and accuracy was determined by comparing the results of the chart and videofluolography. The results showed good reliability (kappa 0.63) and accuracy (kappa 0.47). Based on these results and additional analysis of the check items, the new edition of the chart was established.