Great advances have been made in the causes, lesions and symptoms of cerebral palsy over the years. Children with athetosis have lesions of the ventral lateral nuclei of the thalamus and putamen. Cocontraction and overflow are considered essential problems in athetosis. Some patients with a lesion of the ventral lateral nucleus of the thalamus do not show any involuntary movements. Children with periventricular leukomalacia demonstrate various patterns of the hip, knee and ankle in response to bearing body weight. Some of these patients exhibit ataxia, tremor and mouth opening triggered by voluntary movements. They have various central visual disorders or visual cognitive disorders. They also exhibit paroxysmal ocular downward deviation. In early infancy with spastic diplegia, there is no isolated extension of the knee or leg elevation. Hemiplegia results from stroke of the middle cerebral artery or venous infarction during the fetal or neonatal period. Border-zone infarction results from partial asphyxia.

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  The purpose of this study is to clarify details of children who have special supportive educational needs in the regular classroom environment and to reveal the result of their health check-ups at 1.5 and 3 years of age. Between April 2004 and March 2005, 503 students from regular classes visited with their parents to the education support center as a result of behavioral or learning problems. In addition to checking the developmental history of each case, behavior observation and intelligence test (WISC III) were completed by clinical psychologists. Parents of 258 children who requested make interviews with medical specialists were subsequently interviewed independently for one hour. The parents were given advice depending on the results of both the examinations and reports by clinical psychologists. Interviews and reports including developmental history, behavior observation, intelligence test results and school records were summarized by the authors (medical specialists and a teacher from a handicapped school). Among these children, 171 were diagnosed with developmental disorders, 103 had high function pervasive developmental disorders (HFPDD), 75 had mental retardation (MR) including borderline intelligence, and 26 had both autism and MR. Furthermore, 24 children were diagnosed as AD/HD and 23 as having a learning disorder (LD). Although some developmental problems had been identified in half of the children with autism at 1.5 or 3 years of age, they had not been followed up sufficiently. Further, few children with LD or AD/HD had been identified during health check-ups. These results suggest that we should reconsider the health check-ups system for the children with LD and AD/HD as well as autism and establish a follow up system for them.

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  We conducted a retrospective survey of the efficacy of ketogenic diet therapy (KD) for childhood refractory epilepsy. The subjects were 54 patients (male: 19; female: 35) undergoing KD between 1984 and 2007 in our hospital. We defined marked improvement as being seizure-free and satisfactory improvement as a reduction of the seizure frequency by more than 50%. KD was started at ages ranging from 6 months to 15 years (median: 4 years), and maintained for 1 month to as long as 7 years. Twenty-nine patients (54%) discontinued KD within 1 year of its initiation. As the results, 18.5 and 35% of the patients showed marked and satisfactory improvement, respectively, at 1 year after starting KD. A greater than satisfactory improvement was achieved in 80% of those showing transitional state from West to Lennox-Gastaut syndrome (n=5), 100% of those with epilepsy with both focal and generalized seizures (n=3), 46% of those with severe myoclonic epilepsy in infants (n=13), 33% of those with cryptogenic myoclonic-astatic epilepsy (n=3), 25% of those with symptomatic localization-related epilepsy (n=8), 20% of those with Lennox-Gastaut syndrome (n=5), and 12% of those with symptomatic generalized epilepsy (n=17). There were no serious side effects. Five patients discontinued KD despite their satisfactory improvement because they disliked the taste of the meals. KD therapy is worth considering for children with refractory epilepsy, but a more palatable KD menu needs to be developed for Japanese patients to maintain their long-term compliance with the therapy.

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  Many children with developmental disorders are known to have motor impairment such as clumsiness and poor physical ability; however, the objective evaluation of such difficulties is not easy in routine clinical practice. In this study, we aimed to establish a simple method for evaluating motor difficulty of childhood. This method employs a scored interview and examination for detecting soft neurological signs (SNSs). After a preliminary survey with 22 normal children, we set the items and the cutoffs for the interview and SNSs. The interview consisted of questions pertaining to 12 items related to a child's motor skills in his/her past and current life, such as skipping, jumping a rope, ball sports, origami, and using chopsticks. The SNS evaluation included 5 tests, namely, standing on one leg with eyes closed, diadochokinesia, associated movements during diadochokinesia, finger opposition test, and laterally fixed gaze.
  We applied this method to 43 children, including 25 cases of developmental disorders. Children showing significantly high scores in both the interview and SNS were assigned to the “with motor difficulty” group, while those with low scores in both the tests were assigned to the “without motor difficulty” group. The remaining children were assigned to the “with suspicious motor difficulty” group. More than 90% of the children in the “with motor difficulty” group had high impairment scores in Movement Assessment Battery for Children (M-ABC), a standardized motor test, whereas 82% of the children in the “without motor difficulty” group revealed no motor impairment. Thus, we conclude that our simple method and criteria would be useful for the evaluation of motor difficulty of childhood. Further, we have discussed the diagnostic process for developmental coordination disorder using our evaluation method.

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  A 15-year-old girl had no REM sleep presumably due to a pontine cavernous hemangioma was reported. Her brain MRI revealed a cavernous hemangioma extending from the dorsal pontine to the medulla. She manifested truncal ataxia, facial nerve palsy, and ocular motor apraxia. She could not sleep in the supine position due to the sleep apnea accompanied with loud snoring. Overnight polysomnography (PSG) was performed for detection of obstructive sleep apnea syndrome (OSAS). In addition to severe OSAS and Cheyne-Stokes-like respiration at wake after sleep onset, her 1^st PSG study revealed no periods with rapid eye movement, EEG characteristic of REM sleep, atonia and variation on respiratory and heart rate. Even after effective therapy for OSAS with non-invasive positive airway pressure ventilation (NPPV), her 2nd PSG also failed to show stage REM. These findings suggest that this pontine cavernous hemangioma disturbed her REM-on system. This is the first report of an individual with long-term loss of REM sleep and a valuable case for the understanding of anatomical structures of the REM-on system and the role of REM in memory consolidation.

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  Canavan disease (CD), which is a rare disease in Japan, is an autosomal-recessive neurodegenerative disorder caused by mutations in aspartoacylase, an enzyme that deacetylates N-acetylaspartate to generate free acetate in the brain. CD affected children usually die by the age of 10 years. Here we report a long term clinical course of a 21-year-old Japanese woman who was diagnosed as CD at the age 4. This patient is the only reported case of CD in Japan that has been biochemically confirmed. Although this patient is currently bed-ridden with spastic quadriplegia and severe mental retardation, her general condition is quite stable. This patient showed a milder clinical course compared to the majority of CD patients. Because this is the only reported case of CD in Japan, we hypothesize that there might be an ethnic phenotypic polymorphism in CD.

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  We report a 17-year-old female patient with Lance-Adams syndrome caused by anoxic encephalopathy during a severe attack of bronchial asthma. She had difficulty in writing because of action myoclonus in her arms. She also exhibited freezing gait and was unable to walk without cane. Although her gait disturbance resembled those seen in patients with parkinsonism secondary to anoxic encephalopathy, surface electromyography revealed that it was caused by action myoclonus in her legs. The presence of giant somatosensory evoked potentials and enhanced cortical reflexes in response to the electrical stimulation to her posterior tibial nerves supported our diagnosis. A combined therapy with valproate sodium, clonazepam and piracetam (15 g/day) was not effective. However, her freezing gait remarkably improved and she was able to walk without help, after the treatment with sufficient dose of piracetam (21 g/day). Cortical hyperexcitability as revealed by electrophysiological examination also improved. We concluded that the combined therapy with antiepileptic drugs and piracetam was effective in the treatment for action myoclonus. However, because the effects seemed dose-related, the dosage of piracetam needed to be increased until the optimum effects were obtained.

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[in Japanese]

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[in Japanese]

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[in Japanese]

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