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Volume 45, Issue 5
Displaying 1-12 of 12 articles from this issue
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  • Reliability of the measurement of stature in subjects with severe motor and intellectual disabilities
    Kenji Kihara, Yoko Kawasaki, Hiroyuki Imanishi, Tomohiro Usuku, Mio Ni ...
    2013 Volume 45 Issue 5 Pages 349-353
    Published: 2013
    Released on J-STAGE: October 11, 2014
    DOIhttps://doi.org/10.11251/ojjscn.45.349
    JOURNAL FREE ACCESS
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      Objective: The objective of this study was to examine the reliability of the measurement of stature in individuals with severe motor and intellectual disabilities. Methods: Using a stratified sampling method 12 subjects (mean age of 28.7±11.5), were selected from 73 subjects with severe motor and intellectual disabilities (mean age of 37.1±15.0). Each subjects'stature was measured using two measurement methods. One measured the tibia length (TL-method) and, the other measured the whole body by measuring three sections. (Division-method). 3 examiners measured all subjects using the TL-method and Division-method two times repeatedly. In addition, one examiner measured all subjects within two weeks following the initial measurement. Intra-rater reliability was calculated from single and two times measurements using each method. The Inter-rater reliability was calculated using measurement results from 2 or 3 examiners in both single and two times measurements. The correlation between values measured by the TL-method and the Division-method was calculated using Spearman rank correlation coefficient. Results: The TL-method and Division-method had good intra-rater reliability (ICC>0.90, 95%CI>0.80) and good inter-rater reliability (ICC>0.90, 95%CI>0.70) in both measurement methods. For both measurement methods, inter-rater reliability was more preferable when 3 examiners measured two times repeatedly (ICC>0.90, 95%CI>0.90). There was good correlation between values measured by TL-method and the Division-method (r=0.83). Conclusions: Both TL-method and Division-method had good reliability. However, the TL-method could be considered a more useful measurement method as it can be completed more easily and in a short period of time.
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  • Efficacy of visual cognitive function tests in health examinations of five-year-old children
    Yuji Inaba, Taemi Niimi, Takafumi Nishimura, Yuka Misawa, Tetsuhiro Fu ...
    2013 Volume 45 Issue 5 Pages 355-359
    Published: 2013
    Released on J-STAGE: October 11, 2014
    DOIhttps://doi.org/10.11251/ojjscn.45.355
    JOURNAL FREE ACCESS
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      Objective: Health examination programs for five-year-old children are aimed at effectively detecting developmental disorders, such as attention deficit/hyperactivity disorders (AD/HD), learning disorders (LD), higher functioning autistic spectrum disorders (HFASD), and other abnormalities. Tests usually include a questionnaire and observation of group playing, verbal communication, and soft neurological signs; however, it is often difficult to detect children who have LD with visual cognitive dysfunctions through such conventional examination techniques. Here, we analyzed the efficacy of using a battery of visual cognitive function tests to identify such cases. Methods: We employed four simple tests to evaluate visual cognitive function in addition to a standard health examination for five-year-old between April 2008 and March 2010. To analyze visual cognitive function tests, the results were scored and the applicability of these tests was verified by comparisons with established tests. Results: A total of 653 five-year-old children underwent health examinations, and 48 children were referred to the hospital for further examinations. As a result, 34 children were newly diagnosed with developmental disorders, including HFASD, AD/HD, LD, and mild intellectual disturbances. Strong correlations were seen between the scores of these four examinations and those of other established tests, such as the performance intelligence score, the perceptual organization index of WISC-III, and the Frostig visual development test score. An additional benefit of our method was that parents could easily recognize developmental disorders in their children through direct observation of these examinations. Conclusions: We concluded that the battery of visual cognitive function tests was simple and useful for detecting developmental disorders in the health examinations of five-year-old children.
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  • Development of a vision-related symptom and performance checklist for children
    Tomohito Okumura, Tomoko Miura, Makoto Nakanishi, Masaaki Uno, Eiji Wa ...
    2013 Volume 45 Issue 5 Pages 360-365
    Published: 2013
    Released on J-STAGE: October 11, 2014
    DOIhttps://doi.org/10.11251/ojjscn.45.360
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      Objective: Visual dysfunctions can cause problems in academic and athletic activities in children with developmental disorders. This research aims to develop a vision-related symptom and performance checklist for children (VSPCL). Methods: Parents of 115 children with visual dysfunction and 859 typically developed children were recruited to conduct VSPCL. Results: As a result of factor and discrimination analyses, 39 items were selected and divided into four subscales (α=.715～α=.924). ROC analysis was used to investigate discriminability, revealing high sensitivities (81.3%～93.5%) and specificities (79.1%～91.8%) for all subscales. Conclusions: VSPCL was found to be useful to discriminate symptoms related to visual dysfunctions in children with developmental disorders.
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  • Clinical features of girls with Asperger disorders
    Yuko Yamauchi, Masutomo Miyao, Makiko Okuyama, Hiroyuki Ida
    2013 Volume 45 Issue 5 Pages 366-370
    Published: 2013
    Released on J-STAGE: October 11, 2014
    DOIhttps://doi.org/10.11251/ojjscn.45.366
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      Objectives: Symptoms of Asperger disorder (AD) in girls are often different from those in boys. In this study, the characteristics of girls with AD were examined. Methods: We retrospectively examined the records of 63 boys and 33 girls with AD. We evaluated the age, main problems, complications, and the Wechsler Intelligence Scale for Children (3rd Ed) scores. Results: About 73%of girls were diagnosed with AD between 10 and 15 years of age, and they had physical complications or problems in the autonomic nervous system. Girls scored significantly lower in Mathematics score, and Block Design score than boys. Conclusions: The results suggest that there are differences in the AD symptoms exhibited by boys and girls. Further research is required to clarify the behavioral, neurological, and genetic links to these gender differences. In order to prevent secondary complications, it is necessary to establish specific diagnostic criteria for girls with AD.
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  • A male case of subcortical band heterotopia with somatic mosaicism of DCX mutation
    Aiko Igarashi, Masao Kawatani, Genrei Ohta, Hiroshi Kometani, Yusei Oh ...
    2013 Volume 45 Issue 5 Pages 371-374
    Published: 2013
    Released on J-STAGE: October 11, 2014
    DOIhttps://doi.org/10.11251/ojjscn.45.371
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      This report describes a male case of subcortical band heterotopia (SBH) with somatic mosaicism of doublecortin (DCX) mutation. His brain MRI revealed bilateral SBH with anterior dominant pachygyria. Although he had infantile spasms from 5-months old and showed mild developmental delay, he responded well to vitamin B6 and ACTH therapy. We conducted DCX mutation analysis using peripheral blood lymphocytes of the proband and his parents. Only the present case showed the mixture pattern of missense mutation (c. 167G>C) and normal sequence of DCX gene indicating that the present case resulted from somatic mosaicism of de novo DCX mutation. Male patients with DCX mutations generally present with the classical type of lissencephaly, severe developmental delay, and intractable epilepsy. However, somatic mosaic mutation of DCX can lead to SBH in males.
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  • Epileptic encephalopathy associated with forced normalization after administration of levetiracetam
    Takahiro Kikuchi, Mitsuhiro Kato, Nobuya Takahashi, Kazuyuki Nakamura, ...
    2013 Volume 45 Issue 5 Pages 375-378
    Published: 2013
    Released on J-STAGE: October 11, 2014
    DOIhttps://doi.org/10.11251/ojjscn.45.375
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      Here we report a case of a 10-year-old female with unclassified epileptic encephalopathy who showed forced normalization after administration of levetiracetam (LEV). She initially presented with intractable tonic and myoclonic seizures that were observed about 10 times a day along with frequent multifocal sharp and slow wave complexes on electroencephalography (EEG). We were forced to decrease the topiramate dose because of the appearance of nystagmus, and her myoclonic seizures became worse. We added LEV (250 mg/day) and her tonic and myoclonic seizures disappeared one day after initiation of LEV administration. However, she showed hyporesponsiveness and akinesia. The disappearance of paroxysmal discharges on EEG confirmed the diagnosis of forced normalization. Despite continuous administration of LEV, tonic and myoclonic seizures relapsed within a month but her psychotic symptoms resolved simultaneously. To the best of our knowledge, this is the first reported case of forced normalization after LEV administration. It should be noted that LEV may cause forced normalization although it can be started at an adequate dosage.
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  • The effectiveness of lamotrigine in a case of ring chromosome 14 with refractory epilepsy
    Kazunori Ogawa, Kuniaki Iyoda
    2013 Volume 45 Issue 5 Pages 379-382
    Published: 2013
    Released on J-STAGE: October 11, 2014
    DOIhttps://doi.org/10.11251/ojjscn.45.379
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      A 25-month old boy was admitted to our hospital due to intractable seizures and developmental retardation. At birth, the patient's head circumference was within normal limits and development appeared normal until approximately six months of age, when symptoms of mental and motor retardation, and microcephaly, gradually appeared. From three months of age, refractory complex partial seizures, secondary generalization of partial seizures, and convulsive status epilepticus occurred. Electroencephalograms (EEGs) taken prior to the patient's referral to our hospital displayed focal spikes at the right occipital region, and at 25 months of age, EEGs showed focal fast activity in the same region. Abnormalities were not detected in the patient's MRI and there was no congenital malformation. Chromosome analysis (G-banding) revealed 46, XY, r (14) (p13q32.3) [28] /45, XY, -14 [2], mosaic ring chromosome 14, and monosomy 14. Clinical experience has shown that even in the absence of malformations, children with developmental delay and refractory seizures may have chromosomal abnormalities, and this was true for our patient. Although consistent clinical characteristics of ring chromosome 14 have not yet been described, the refractory partial seizures that began in early infancy, and the gradual appearance of developmental delay with acquired microcephaly exhibited by our patient are characteristic. However, the patient's refractory seizures have been completely suppressed through an add-on therapy consisting of a relatively low dose of lamotrigine (0.7 mg/kg/day), despite the likely aggravating effect of topiramate.
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