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Makiko Kaga

Publications and source records attributed to Makiko Kaga.

33 records · Page 2Linked to original sources
PubMed2003

Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L.

Since the first report by Brenner et al. of mutations in the glial fibrillary acidic protein (GFAP) gene in patients with Alexander disease, several molecular genetic studies have been performed in different ethnic groups. We previously reported a Japanese patient with a mutation, R239C, which is identical to one commonly found in American patients. Here we have analyzed four additional Japanese patients by screening for known mutations or, if no known mutation was found, by sequencing of all exons of the GFAP gene. We detected three missense mutations; one was a novel mutation, R79L, and two were previously reported mutations, R239C and R79C. All of our patients were heterozygous for their mutations. Together with the novel mutation, R79L, four different nucleotide changes altering the R79 residue have been reported, implying that any alternation of this arginine residue can give the GFAP protein a dominant negative effect, leading to accumulation of GFAP as Rosenthal fibers. We conclude that molecular genetic analysis of the GFAP gene is feasible for antemortem diagnosis of Alexander disease in Japanese patients.

Alexander Disease↗
PubMed2003

NCNP News.

Explore the source record for details and available documents.

Animals↗
PubMed2003

An assessment of the mental health of physicians specializing in the field of child neurology.

We assessed physicians working in the field of child neurology with the aim of improving the physicians' mental health. Our questionnaire included a burnout inventory and a general health questionnaire. We analyzed 29 responses from physicians in a variety of countries obtained through the Internet. According to their responses, 8 (27.5%) of the respondents had attained a burnout status, and 27 respondents (93.1%) had neurotic conditions. We found a greater percentage of physicians in poor mental health than we had found previously in assessments made in Japan. However, the respondents in the present survey had more positive styles for coping with stress. The length of time working as a physician affected respondents in Japan and internationally, whereas nationality or working environment (workplace, night shifts, and so on) did not. Consultants or mentors on work and assertive stress coping would be effective.

Adaptation, Psychological↗
PubMed2003

Auditory agnosia in children after herpes encephalitis.

Four pediatric patients whose bilateral auditory cortices were damaged by herpes encephalitis at an early age were studied. Their brain CT and MRI scans demonstrated common bilateral lesions of the auditory cortices. Their auditory perception was investigated by means of behavioral and objective hearing tests and auditory perception tests. All four patients showed mild or moderate hearing loss in the behavioral hearing test and normal auditory brainstem responses but did not manifest total deafness. Moreover, perception tests involving speech, environmental sounds and music demonstrated that most auditory perception ability had been lost in all patients. On reaching school age, the patients were enrolled in schools for the deaf or special schools for handicapped children.

Agnosia↗
PubMed2003

[Three cases with severe motor and intellectual disabilities presenting the severest condition caused by prolonged non-convulsive status epilepticus].

Three patients with severe motor and intellectual disabilities presented deterioration of the activities of daily living, which was revealed to be caused by prolonged non-convulsive status epilepticus (NCSE). Their condition improved by the treatment with antiepileptics. Case 1, a 4-year-old girl with profound psychomotor retardation and past history of West syndrome of unknown etiology, became unable to sit and eat orally above age of two years. EEG showed continuous generalized slow spike and wave bursts indicating NCSE. Continuous intravenous infusion of midazolam abolished EEG abnormalities of NCSE, and she regained the ability of oral feeding. Case 2, a 3-year-old boy with Angelman syndrome and past history of West syndrome, presented decreased mental response, poor oral intake and somnolence. EEG showed continuous slow spike and wave bursts, indicating NCSE. High-dose phenobarbital therapy and continuous intravenous injection of vitamin B6 were effective, and remarkably improved his psychomotor activities. Case 3, a 3-year-old boy with Lennox-Gastaut syndrome, developed decreased psychomotor activity and loss of vocalization and walking. He could not sit by himself and became nearly bed-ridden. EEG showed very frequent generalized spike and wave bursts, showing NCSE. Continuous infusion of thiopental diminished NCSE, and he could walk again. Psychomotor deterioration in patients with severe motor and intellectual disabilities may be caused by NCSE, which should not be overlooked.

Child, Preschool↗
PubMed2003

[Adverse effects of dichloroacetate in a girl with mitochondrial disorder].

We present the effects and adverse effects of dichloroacetate (DCA) in a girl with mitochondrial disorder. Oral administration of DCA 50 mg/kg per day, reduced the elevated levels of lactate to below the normal range. Treatment with DCA ameliorated electroencephalogram abnormalities, but caused the adverse effects with hepatomegaly and decreased activity, which were improved by reduction or withdrawal of DCA. The decreased activity may be an adverse effect on the central nervous system. The dosage of DCA should be adjusted for each patient.

Administration, Oral↗
PubMed2003

[Assessment of chromosome and gene analysis for the diagnosis of the fragile X syndrome in Japan--estimated prevalence rate in various facilities].

We assessed the present status of chromosome and gene analyses utilized in Japan for the diagnosis of fragile X syndrome. Nursery facilities for the mentally handicapped and hospitals completed a mail-in-questionnaire including information on the number of patients diagnosed with the syndrome, the types of diagnostic analyses used, and the need for such analyses. Among 517 responders, ninety-five (18.4%, more frequently in hospitals) reportedly conducted chromosome or gene analyses, which established the diagnosis of fragile X syndrome in 56 patients, accounting for 2.2% of patients who underwent the analyses, and 0.13% of the patients included in this study. Each responder's experience with chromosome or gene analyses were related to his/her demand for them. Some facilities that had not utilized these analyses requested information on them as well as access to them. A larger number of specialists interested in diagnostic screening are essential to establish a diagnosis system of fragile X syndrome.

Cytogenetic Analysis↗
PubMed2003

[Assessment of the selection and usefulness of diagnostic examinations for children with mental retardation].

We retrospectively investigated medical records of 196 patients suspected of having mental retardation at their initial visits. The objective of the study was to clarify the current choice of medical examinations and to assess their usefulness. Frequently selected examinations included 1. neuroimaging, neurophysiology and other central nervous system examinations, 2. psychological examinations and 3. blood tests. The former two demonstrated abnormal results very frequently. Genetic examinations rarely showed abnormal results. On the contrary, chromosomal analysis was often useful for diagnosing diseases that are difficult to be made only by clinical symptoms. Physicians should provide patients and their families with information about medical examinations currently available and useful.

Child↗
PubMed2002

Auditory perception in auditory neuropathy: clinical similarity with auditory verbal agnosia.

The precise features of auditory perception in patients with auditory neuropathy have not been well described. In the present study, we examined auditory perception in a patient with auditory neuropathy. The patient was a right-handed 7-year-old boy. His chief complaint was delayed speech and suspected of verbal learning disability. He could talk, read and repeat rather fluently but could not understand fully what was asked. V-IQ, P-IQ and F-IQ of Wechsler Scale for Children III-R were 53, 118 and 81, respectively. Pure tone audiogram was completely normal. His speech discrimination ability was very poor. He could identify environmental sounds with visual matching. He could differentiate intensity difference but not time difference. This phenomenon was reported in patients with hemispheric symptoms. These clinical features are very similar to verbal auditory agnosia. ABR showed no response at 90dBnHL alternating clicks and tone bursts. Click evoked and distortion product otoacoustic emissions (OAE) were normal. Electrocochleogram was also normal. Motor and sensory nerve conduction velocity was completely normal. Pa of MLR and N1 of SVR were present. His diagnosis should be "pure type" of auditory neuropathy or auditory nerve disease. Importance of both ABR and OAE examination should be widely announced and auditory neuropathy must be campaigned stressed to be clinical entity among personnel who take care of children with speech delay.

Agnosia↗
PubMed2002

Mismatch negativity of the color modality during a selective attention task to auditory stimuli in children with mental retardation.

Event-related potentials (ERPs) in response to a stimulus change in the visual color modality were recorded in normal subjects and children with mental retardation (MR) under selective attention conditions with auditory stimuli. The paradigm included the presentation of a standard (blue color screen, B) or deviant (red, R, or greenish blue color screen, GB) visual stimulus, and a target or non-target tone burst stimulus. In Experiment 1, negativity of the subtracted waveform in response to visual stimuli with a latency of 250-280 ms was clearly observed in the ERPs of normal adults. These potentials prominently appeared at posterior sites in one condition, for which the deviant was GB, but were frontal site-dominant for the other condition. A P300 response to visual deviance was not observed in the GB-B paradigm and the subtracted negativity for this paradigm seemed to be more evident than that for the R-B paradigm. The subtracted negativities could be detected in the range of 180-400 ms after the stimulus onset in control children for the GB-B paradigm. The grand average waves of subtracted ERPs in normal children showed a similar distribution to that in normal adults. Similar subtracted potentials could be recorded with the same paradigm in children with MR, however, the negativities were different in waveform and spatial distribution than in controls. Therefore, the subtracted negativity of the present visual modality represented the analogue of the auditory mismatch negativity (MMN), and so-called 'visual MMN' was detectable in children and even in MR patients when the selective attention was directed to other stimuli.

Acoustic Stimulation↗
PubMed2002

[Early detection and therapeutic rearing for children with mental retardation: I. Assessment of diagnosing examination and collaborative facilities assigned for children with mental retardation].

We assessed medical examinations and therapeutic rearing designed for diagnosing children with mental retardation (MR) taking three cases as an example. One hundred and seven physicians answered the questionnaire. Their tentative diagnoses were tuberous sclerosis, autistic disorder, and mental retardation, respectively. They planned medical examinations of blood cell count, urinalysis, blood biochemistry, developmental questionnaires, CT, MRI, and EEG. They chose speech and occupational therapy, nursery facilities, public health center, social welfare counselors, and parents' associations as their early intervention programs. To enrich social resources for MR children, a network of facilities and training for specialists are necessary.

Child Rearing↗
PubMed2002

[Visual perception of Japanese characters and complicated figures: developmental changes of visual P300 event-related potentials].

In order to evaluate developmental change of visual perception, the P300 event-related potentials (ERPs) of visual oddball task were recorded in 34 healthy volunteers ranging from 7 to 37 years of age. The latency and amplitude of visual P300 in response to the Japanese ideogram stimuli (a pair of familiar Kanji characters or unfamiliar Kanji characters) and a pair of meaningless complicated figures were measured. Visual P300 was dominant at parietal area in almost all subjects. There was a significant difference of P300 latency among the three tasks. Reaction time to the both kind of Kanji tasks were significantly shorter than those to the complicated figure task. P300 latencies to the familiar Kanji, unfamiliar Kanji and figure stimuli decreased until 25.8, 26.9 and 29.4 years of age, respectively, and regression analysis revealed that a positive quadratic function could be fitted to the data. Around 9 years of age, the P300 latency/age slope was largest in the unfamiliar Kanji task. These findings suggest that visual P300 development depends on both the complexity of the tasks and specificity of the stimuli, which might reflect the variety in visual information processing.

Adolescent↗
PubMed2002

[Early detection and therapeutic rearing for children with mental retardation: II. Assessment of gene analyses for the diagnosis of developmental disorders in Japan].

The authors assessed the present status of gene analysis utilized in Japan. Physicians completed a mail-in questionnaire with their comments regarding the types of gene analyses they used, the perceived effectiveness of the analyses, and how they conducted genetic counselling for the patients. Among the 76 physicians who responded, gene analysis was most often conducted (n = 16, 75.0%) for muscle dystrophies, and considered to be effective by most of them (chi 2 (df = 2) = 11.99, p = 0.003). Many factors including the age of physicians, location of their facilities, and experience in child neurology were related to the utilization of gene analyses. Future studies based on ethical guidelines should establish a network between specialists and facilities and encourage medical approach to developmental disorders.

Child↗
PubMed2002

[Visual perception of Kanji characters and complicated figures. II. Visual P300 event-related potentials in patients with mental retardation].

In order to objectively evaluate visual perception of patients with mental retardation (MR), the P300 event-related potentials (ERPs) for visual oddball tasks were recorded in 26 patients and 13 age-matched healthy volunteers. The latency and amplitude of visual P300 in response to the Japanese ideogram stimuli (a pair of familiar Kanji characters or unfamiliar Kanji characters) and a pair of meaningless complicated figures were measured. In almost all MR patients visual P300 was observed, however, the peak latency was significantly prolonged compared to control subjects. There was no significant difference of P300 latency among the three tasks. The distribution pattern of P300 in MR patients was different from that in the controls and the amplitudes in the frontal region was larger in MR patients. The latency decreased with age even in both groups. The developmental change of P300 latency corresponded to developmental age rather than the chronological age. These findings suggest that MR patients have impairment in processing of visual perception. Assessment of P300 latencies to the visual stimuli may be useful as an objective indicator of mental deficit.

Adolescent↗