Etiology and management of neonatal seizures was retrospectively studied in 39 patients, who were admitted in our neonatal intensive care unit. Midazolam was administered to 22 patients by intravenous bolus injection (0.15±0.08 mg/kg) and/or continuous intravenous infusion (0.33 mg±0.11 mg/kg/hr), both of which were judged as effective in 71% and 76% of the patients, respectively. Seven patients showed decrease of blood pressure possibly related with administration of midazolam, but five of them were managed by decreasing dose of the drug or observation of clinical pictures. We consider that midazolam is effective and relatively safe for the management of neonatal seizures.

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The term severe motor and intellectual disabilities syndrome (SMIDS) refers to describe a heterogeneous group of disorders with severe physical disabilities and profound mental retardation. Many patients with SMIDS have spinal deformities such as spinal rotation and scoliosis. On the other hand, they often have respiratory dysfunction, resulting in high mortality from respiratory failure. Therefore, we hypothesized that spinal abnormalities might affect respiratory dysfunction, and analyzed the correlation between spinal abnormalities (Cobb angles (CA) and spinal rotation scores (SRS)) and respiratory parameters (observed during tidal breathing at static supine posture) in 10 patients with SMIDS (M: F 2: 8, age 29.0±7.3years). The patients inability to make effort in spirometry prevented us from evaluating vital capacity and forced expiratory volume. We measured respiratory rate, tidal volume, and expiratory gas during tidal breathing for 10 minutes. There was no patient with the athethotic type of CP. CA and SRS were found to be correlated with each other (r=0.81, p<0.01). CA was inversely correlated with tidal volume (both Vt and Vt/Height; r=-0.69, p<0.05). Both CA and SRS correlated with respiratory rate (r =0.67 and 0.69, respectively). Moreover, the slope of the regression lines of the VO₂-VCO₂ plots (V-slope) was correlated with CA (r=0.86, p<0.01). Contrary to our expectation, none of the respiratory parameters showed significant correlations with BMI. Moreover, we found no relationship between the spinal deformity (CA or SRS) and BMI. These observations suggest that the spinal abnormalities affect respiratory patterns in a restrictive manner and increase the respiratory change rate during tidal breathing in patients with SMIDS.

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This is a report of the setting up of a day group service system for severely disabled children, the “Koala Club”. The “Koala Club”was started in 1993, and has been running outside of the hospital since 1997. A support group for the “Koala Club” was established in 1999. Currently 13 children attend the “Koala Club”. The staff of the “Koala Club” consists of one coordinater, four nurses and eight care workers. The medical care is fulfilled by nurses. The “Koala Club” open two days a week. It has been supervised by a doctor and a case worker. There is an important role for physicians in the regional care of disabled children.

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People with mental retardation often have behavioral problems. Psychotropic medications are used for the treatment of extremely disruptive behavior disorders in many cases. We surveyed the clinical characteristics and the current status of the pharmacotherapy regimens for inpatients with severe intellectual disabilities and behavior disorders at 8 national psychiatric hospitals.
Many of them were men between 20 and 40 years and more than half of them had both extremely mental retardation and high motor ability. Antipsychotic drugs and anticonvulsants were frequently used. As they had more severe behavior disorder, they were taken the more psychotropic drugs. Autism was significantly associated and rough behavior was apparently associated with higher doses. Avery weak correlation between the total score of extremely disruptive behavior disorders and the number of psychotropic drugs being administered per patient was seen. Use of new medicines, such as atypical antipsychotic drugs, was found about fifteen percent of the cases.
In order to establish useful pharmacotherapy regimens for people with severe mental retardation and behavior disorders, it is necessary to perform routine judgment and evaluation of the pharmacotherapy focusing on targeted symptoms. We should also be attention to the quality of life issue. The aim of medical treatment should not be care workers' convenience, but be the improvement of quality of life of patients.

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To investigate the correlation between the abnormalities of magnetic resonance imaging (MRI) of the brain and blood phenylalanine (Phe) levels in phenylketonuria (PKU) and hyperphenylalaninemia (HPA), we reviewed MRIs from 16 patients with early treated PKU and HPA. Their ages ranged from 4-24 years and were found by mass screening and treated from early infancy, and 5 patients with late detected PKU who were aged 24-33 years. The former patients had no remarkable neurological signs or symptoms. One patient of the latter had severe mental retardation and 3 patients had mild to border mental retardation. Axial T, -weighted and T 2-weighted spin echo sequences, fluid attenuated inversion recovery MR sequences (FLAIR) through the brain were performed. The scans were graded according to the extent of increased signal intensity of white matter on T 2-weighted and FLAIR sequences. To investigate the influence of plasma Phe levels, three approaches were used. Firstly an average of all yearly serial blood Phe concentration was calculated for each patient, then Phe was determined for a period of 6 months and 12 months prior to MRI, and also for their lifetime up to their age at the time this study began. These average blood Phe levels were classified into four categories: group A: Phe level below 5 mg/dl, group B: 5-8 mg/dl, group C: 9-12mg/dl, group D: above 12 mg/dl. MRI findings were not significant in group A. Remarkable high signals of white matter were obtained in group C and D, except for one patient in group D whose MRI finding was normal. MRI findings correlated to long-term dietary control stronger than those of 6 months prior to MRI. The clinical significance of MRI abnormalities is still unclear, and further study is required to clarify the relationship of the MRI findings and clinical conditions.

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The use of noninvasive positive pressure ventilation (NPPV) is increasingly accepted as a treatment of respiratory problems in patients with neuromuscular disease. However, its use in mentally retarded and un-cooperative patients has not been reported. We report here the evaluation and treatment of sleep apnea in a Down syndrome patient. After recovering from a life threatening respiratory failure the patient had persistent sleep apnea syndrome. Limited examinations disclosed that he had two types of apnea; obstructive and central type apnea. Our treatment was a diet with intake restricted up to 1, 000 kcal per day for the obstructive apnea, and NPPV with low dosage of oxygen for the obstructive and central apnea. With these treatments in one year's hospitalization, his quality of life was significantly improved. He has continued the treatment in the outpatient department and enjoys a better quality of life both at home and in the community.
The successful treatment of this case may become an example of the more extensive use of NPPV for such respiratory problems in handicapped children and adults with behavioral problems.

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Chronic unilateral pleural effusion developed in three patients with severe motor and intellectual disabilities. All patients received 5-15 years of dantrolene administration for their spasticity. The cause of pleural effusion was indistinct, despite close investigations for etiologies such as infection or tumor. The pleural fluid consisted of sterile exudate in all patients. One patient had eosinophilia in his pleural fluid, while peripheral blood eosinophilia was seen in the other two. The pleural biopsy and autopsy specimens revealed only non-specific inflammatory findings. After dantrolene therapy was discontinued, pleural effusion almost disappeared in two patients in the following several months, but the other died of multi-organ failure from another underlying disease. It is important to take chemical pleurisy into consideration when dealing with pleural effusion of unknown etiology. Moreover, respiratory side effect should be examined in patients treated with chronic dantrolene administration.

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We reported a 9-year-old boy with chronic inflammatory demyelinating polyneuropathy (CIDP) showing characteristic electron microscopic study findings on a sural nerve biopsy. He came to our hospital because of muscle weakness progressing slowly for 2 years. He developed distal muscle weakness and areflexia. Cerebrospinal fluid protein was elevated without pleocytosis. Moter conduction velocities were reduced. Partial conduction block and abnormal temporal dispersion were present. The electron microscopic findings on a sural nerve biopsy comprised both active demyelinating lesions, i. e., macrophages were peeling away the myelin lamellae and phagocytosing some myelin debris, and remyelinating lesions with onion bulb formations. Some findings mimic electron microscopic changes in Guillain-Barré syndrome, although tests for the known anti-ganglioside antibodies were negative.
So, he was diagnosed as having definite CIDP and prednisolone with gamma-globulin infusion was effective to ameliorate his symptoms.

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A 5-year-old boy visited a hospital because of macrocephalus, mental retardation and hepatic dysfunction, and was suspected to have Wilson's disease since his father had this disease. The serum level of ceruloplasmin was low, but urinary copper excretion was not increased markedly. He was treated with D-penicillamine. He was then reffered to our hospital because of his facial features suggesting mucopolysaccharidosis.Based on mucopolysacchariduriaa nd the deficiency of N-acetylglucosaminidaset, h e diagnosis of Sanfilippos yndrome type B was made. Molecular analyses identified him as a compound heterozygote for both the ATP7B (A844V/2659delG) and a -Nacetylglucosaminidase (V241M/R482W) genes, responsible for Wilson's disease and Sanfilippo syndrome type B, respectively. Although born to non-consanguineous parents, he had two rare autosomal recessive diseases. In this case, liver dysfunction was attributed to Wilson's disease, and mental retardation to Sanfilippo syndrome

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[in Japanese]

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[in Japanese]

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