There were 16 cases (11 males and 5 females) of SSPE in Okinawa from 1977 to 1999. The incidence was 0.58 per million population per year for the last 23 years, being higher than in other reports in Japan. Six of the 16 cases contracted measles in 1990. The measles antibody of SSPE cases after 1989 became lower than previously.

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An adaptive behavior scale for persons with severe physical and mental disability was proposed. This scale consisted of 43 items from five areas; interpersonal relationship, perception, expression, interest and play, and daily life. Each item was scored on a 0-2 scale. Eighty-two persons (52 males, 30 females) with severe physical and mental disability, aged 1-49 (mean 20.2) years, were examined with this scale. They were institutionalized or attended a day care center. The rating for each item was 1.60-0.09 (mean 0.75). The Cronbach's alpha value was calculated to be 0.95, indicating good internal consistency. For 39 persons attending a center, estimates were consistent between the mother and care staff on only 61% of the items, showing insufficient inter-rater reliability. On the whole, this scale is useful in assessing adaptive behaviors of the subjects.

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The memory functions or capacities in attention-deficit/hyperactivity disorder (AD/HD) are still not clear, though it has been pointed that the working memory in AD/HD could be impaired due to difficulties of motor inhibition or self-regulation. We examined the Auditory Verbal Learning Test (AVLT) and the Rey-Osterrieth Complex Figure Test (RCFT) in addition to the memory tasks of ordinary intelligence tests (WISC-111 and K-ABC) in children with AD/HD. Whether these results could be improved by methylphenidate administration or not was also evaluated. Over the half cases had normal results without medication. Some cases in whom methylphenidate were clinically effective showed improved memory functions, especially in the auditory long-term memory, after methylphenidate administration. In conclusion, memory capacities seem normal in AD/HD. Methylphenidate does not have an effect on the memory capacities, but may improve the strategies in which the short-term memory can be effectively transfered to the longterm memory.

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Gastroesophageal reflux disease (GERD) is a complications of patients with severe motor and intellectual disabilities.
We examined on 17 patients who operated with GERD. They were divided into 2 groups. Group 1 was comprised of young cases with severe spasticity and chronic respiratory insufficiency. Theywere under 23 years old.
Group 2 with severe intellectual disabilities, aerophagia and/or rumination.
They were around 30 years old. Older patients had deformities of the stomach and esophagus. After the operations, fourteen patients had a fair prognosis, three had persistent gastroesophageal reflux (GER), and six patients had subsequent relapse of their GER, and two died.

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We studied serial median nerve somatosensory evoked potentials (SEPs) and short latency somatosensory evoked potentials (SSEPs) in 17 patients with West syndrome. Four of the 7 patients with absent SEPs in the initial examination showed recognizable SEPs in the follow-up studies, associated with improvement of electroencephalogram (EEG). This indicated that SEPs were variable with condition of epilepsy and lack of initial SEPs was not always a poor prognostic factor for seizure control and developmental outcome. Persistent lack of SEPs, however, indicated poor outcome of seizures, EEG and development. Central conduction time in SSEPs did not correlate with seizure or developmental outcome.

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We studied sympathetic skin response (SSR) to visual emotional stimuli in two children with attention deficit/hyperactivity disorder (AD/HD) and nine healthy controls, and correlated them with comorbid disorders. They were diagnosed as having conduct disorder at administration. Two years after interventions of medical care, counseling and education, they were improving in behavior, one with oppositional defiant disorder (ODD) and another without ODD at this study. SSR were evoked in the patient without ODD (a 10-year-old boy), but not in the patient with ODD (a 12-year-old boy).
These findings indicate failure of a patient with both AD/HD and ODD to respond autonomically to social stimuli, and suggest association between emotional signal and empathy.

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Three Japanese patients from 2 families had a phenotype indistinguishable from that of Fukuyama-type congenital muscular dystrophy (FCMD). A full mutational analysis of the fukutin gene, however, revealed neither a 3 kb insertion (the Japanese founder mutation) nor a point mutation. A RT-PCR analysis of one of the patients revealed a normal expression of the fukutin transcript, suggesting that they have a new variant of CMD.
An immunohistochemical analysis of the muscle of one case showed that the immunoreaction to alpha-dystroglycan (DG) was barely detectable on the surface membranes of muscle fibers. Immunoreactions to beta-DG, dystrophin, laminin alpha-2 chain and sarcoglycan were normal. These findings raise the possibility that the abnormality of alpha-DG is integral to the pathology seen in this variant of CMD.
Analysis of POMGnT1 gene, which is causative of muscle-eye-brain disease, revealed no mutation in this case.

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A 1-year-8-month-old patient developed cerebeller ataxia following a prodromal infection. Despite initial diagnosis of acute cerebeller ataxia, his symptoms lasted for more than 30 days. High-dose intravenous immunoglobulin and steroid pulse therapy failed to ameliorate his cerebeller symptoms, which fluctuated in association with infections. At the age of 3 years and 8 months, he had mental retardation with cerebeller symptoms. Findings of MR imaging and single photon emission computed tomography were normal. Neuron-specific enolase of cerebrospinal fluid (CSF) ranged from 10.4-17.6 ng/ml, correlating with the cerebeller symptoms. Serum and CSF anti-glutamate receptor δ 2 antibodies were detected in the serum and CSF. We diagnosed him as having chronic cerebellitis associated with antiglutamate receptor δ 2 antibody.

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Bilateral paramedian thalamic infarcts are characterized by disturbance of consciousness, followed by persisting dementia, decreased spontaneity, apathy, amnesia and paralysis of eye movement. We report a 15-year-old boy with this syndrome, who exhibited transient coma at the onset. In addition to the typical symptoms, he complained of sensory disturbance in the lower extremities and face and the loss of taste sense. MRI showed symmetric paramedian thalamic infarction. There was no lesion in the midbrain. The etiology of infarct in this boy remained unknown despite extensive laboratory and neuroradiological examination. His sensory disturbance in the extremities and face may be due to extensive involvement of the inferolateral area of the thalamus by infarction of the paramedian thalamic artery. This patient illustrates that bilateral paramedian thalamic infarction can occur in a previously healthy child.

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We followed up 5 patients with subacute sclerosing panencephalitis (SSPE) for 14 to 81 months. They were treated with alpha-interferon (INF-α) and oral inosinpranobex (INP) in an early stage of Jabbour stage II and within 5 months after the onset. On admission, Ommaya reservoir was implanted for the intrathecal administration of INF-α. The dose was 1×10⁵U/m² initially and daily increased to 1×10⁶U/m². A total dose of 30×10⁶U/m² was given to them over a 4-weeks to 6-weeks period. After discharge, a dose of 15×10⁶U/m² in three patients was given weekly and a dose of 30×10⁶U/m² in the other patients. In addition, all patients received oral INP. One patient showed mild progression and remained in early stage of Jabbour stage II. In the remaining 4 patients, the disease progressed to Jabbour stage III. Despite the small number of patients studied here, the results suggest that treatment with INF-α plus oral INP is ineffective in an early stage of SSPE.

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We report a 13-year-old girl with dentatorubal-pallidoluysian atrophy (DRPLA), presenting clinically as progressive myoclonic epilepsy. The action myoclonus, which severely impaired her daily life, was markedly improved by administration of piracetam, a drug reportedly useful for myoclonus of cortical origin. In our case, piracetam effectively suppressed severe subcortical myoclonus of DRPLA, suggesting that the drug may be useful in the treatment of both cortical, and subcortical myoclonus.

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[in Japanese]

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