Long-term follow-up of an individual with vitamin B6-dependent seizures

We report on a 31-year-old female with vitamin B6-dependent seizures whose seizure onset was in the neonatal period. Her elder brother had the same disorder and died in infancy. Administration of vitamin B6 was initiated in the postnatal period. At the age of 12 years 1 month, 2 months after withdrawal of vitamin B6, visual seizures began to occur frequently. Myoclonic seizures and occasional generalized convulsive seizures were also observed. At the same time, photoparoxysmal response and spontaneous diffuse spike–wave bursts were seen on her EEG. Myoclonic seizures were provoked by intermittent photic stimulation during the EEG. It is distinctive that visual seizures were one of the main seizure types in this patient, that her clinical course was relatively benign, and that she has normal intellectual outcome.</p

Evoked potentials in patients with Angelman syndrome

Evoked potentials were studied in four cases with Angelman syndrome. Chromosome 15ql1-13 deletion was proved in two cases and paternal uniparental disomy was proved in the rest. Prolonged photo-evoked eyelid microvibration latencies were noted in all four， while visual evoked potential latencies remained within normal limits in three of four. Interpeak latencies of wave I to wave V in auditory brainstem response were prolonged in two of four. Short latency somatosensory evoked potential was examined in two cases and prolonged interpeak latency of wave P3 to wave N1 was noted in one case. Brink reflex was examined in one case and prolonged R2 latency was noted. These findings suggest that the brainstem is disturbed in cases with Angelman syndrome

Long-term follow-up of an individual with vitamin B6-dependent seizures

We report on a 31-year-old female with vitamin B6-dependent seizures whose seizure onset was in the neonatal period. Her elder brother had the same disorder and died in infancy. Administration of vitamin B6 was initiated in the postnatal period. At the age of 12 years 1 month, 2 months after withdrawal of vitamin B6, visual seizures began to occur frequently. Myoclonic seizures and occasional generalized convulsive seizures were also observed. At the same time, photoparoxysmal response and spontaneous diffuse spike–wave bursts were seen on her EEG. Myoclonic seizures were provoked by intermittent photic stimulation during the EEG. It is distinctive that visual seizures were one of the main seizure types in this patient, that her clinical course was relatively benign, and that she has normal intellectual outcome.</p

Relationships between the Color-Word Matching Stroop Task and the Go/NoGo Task:Toward Multifaceted Assessment of Attention and Inhibition Abilities of Children

Both selective attention and response inhibition can be assessed through the Stroop task and the Go/NoGo task (Go/NoGo). The color-word matching Stroop task (cwmStroop) differs from the traditional Stroop task in ways that make it easy to administer, and it enables the examiners to analyze reaction time. It is expected that the cwmStroop and Go/NoGo tasks will be useful as clinical assessments for children with developmental disorders and in combination with functional magnetic resonance imaging studies. The objectives of this study were to elucidate the pattern of developmental change in cwmStroop scores and Go/NoGo scores and to determine whether and how cwmStroop scores are related to Go/NoGo scores. The subjects consisted of 108 healthy Japanese children aged 6-14 years. We found that cwmStroop and Go/NoGo scores displayed clear developmental changes between 6 and 14 years of age. The childrenʼs scores on the 2 tasks followed different developmental courses, however, and the correlation between scores on the two tasks was weak on the whole. These results indicate that the cwmStroop and Go/NoGo tasks tap different aspects of selective attention and response inhibition. Therefore it is expected that the combination of both tests will be useful in the multifaceted assessment of selective attention and response inhibition in childhood

Utilization of the Inkling™ for the Rey - Osterrieth Complex Figure test

　The Rey - Osterrieth Complex Figure (ROCF) test assess visual-construction abilility, visual memory and executive function. Three different methods are traditionally used to track and to record the strokes during the production of the complex figure: single pen, switching felt pens and flowcharts. The Inkling™ is an instrument which attributes are to track, to record and to save the information of every stroke depicted in a standard piece of paper. The purpose of the study is to examine the advantages and disadvantages of using the Inkling™ in the ROCF test. 66 ROCF performances were analyzed from subjects aged 6 to 86 years old. Each subject performed the ROCF test twice; first with pen switching method without flowcharts and later with the Inkling™ or viceversa. The comparison of the performances evidenced 5 characteristics: Four subjects distracted by the color of the felt pens, three subjects interfered by the switching of the felt pens, three subjects which performance was facilitated by the colors of the felt pens, nine subjects with unclear score for Fragmentation and fourteen subjects with unclear score for Planning. The advantages that the Inkling™ showed were compensation for the process of flowcharts, avoid interference, and reduce the burden of unclear scoring for Fragmentation and Planning

Inhibitory Function and Working Memory in Attention Deficit/Hyperactivity Disorder and Pervasive Developmental Disorders:Does a Continuous Cognitive Gradient Explain ADHD and PDD Traits?

To clarify the relationship between attention deficit/hyperactivity disorder (AD/HD) and pervasive developmental disorders (PDD), we investigated the common features and differences of these disorders in neuropsychological profiles. The subjects were 4 groups of Japanese boys aged 6 to 15 years, categorized by diagnosis:AD/HD (n＝20), PDD with comorbid AD/HD (PDD＋:n＝16), PDD without comorbid AD/HD (PDD－:n＝8), and typically developing (n＝60). We evaluated executive function (EF) through verbal and visuospatial memory tasks, the Go/NoGo task, and the color-word matching Stroop task. We performed a categorical analysis to estimate the effects of the 3 disorders on EF and a dimensional analysis to estimate the effects of symptom scales on EF. We found that the AD/HD and PDD＋ subjects had negative effects on verbal working memory and intra-individual response variability. The severity of these impairments was positively correlated with the inattentiveness score. The subjects with a PDD＋ or PDD－ diagnosis had poorer scores on interference control;the severity of this impairment was correlated with the PDD symptom score. Impairments in visuospatial working memory were detected in the AD/HD and PDD－ groups but not in the PDD＋ group. Impairments in inhibition of the pre-potent response were noted in all 3 categories. AD/HD and PDD share neuropsychological features, though each disorder has a specific impairment pattern. Our findings partially support the idea that AD/HD and PDD are on a spectrum

Developmental Changes in the Trail Making Test

　Trail Making Test（TMT）は，ワーキングメモリや反応抑制，反応の切り替えなどの能力が求められる神経心理学的検査である。TMT は実行機能評価法の一つとして広く用いられているが，子どもを対象とした標準値の作成や臨床応用に関する報告はいまだ少ない。そこで本研究では，TMT の小児期から青年期までの各年齢群別標準値を作成するとともに，各指標の発達的変化について検討した。その結果，Part A の遂行時間，Part B の遂行時間，B－A 値およびB/A 値の４指標において年齢による有意な発達的変化が認められ，本検査は子どもの実行機能の発達の程度を反映しうるものと考えられた。本法は従来のTMT よりも刺激数を削減し簡便化したものであり，注意欠陥／動性障害などの発達障害をともなう子 どもへの臨床応用が期待される

The Performance Test of pnCCD with FPGA-Based Operating System for a CubeSat Mission

On 17 August 2017, the LIGO/Virgo collaboration detected a signal of gravitational waves, named GW170817, associated with the merger of two neutron stars. This event was the first detection of the electromagnetic counterpart of gravitational wave events. In general, the error image region of the gravitational wave detectors ranges from a few square degrees to several hundred square degrees. To search for the origin of the gravitational waves or the energetic explosions such as the gamma-ray burst, X-ray observation covering a wide field of view with a good sensitivity is essential to achieve the goal. One of the good candidate instruments to achieve our goal is the combination of an X-ray optics called Lobster-eye optics (LEO) and a large area Si pixel imaging sensor. Furthermore, thanks to the light weight of LEO, it is possible to install on a small platform such as a CubeSat. Here, we introduce a future 3U CubeSat mission for searching the electromagnetic counterpart of gravitational waves in the soft X-ray band (0.4 ~ 10 keV) with ~arcmin localization accuracy. The pnCCD detector fabricated by PNSensor Inc. can achieve our mission requirements as an X-ray detector. To operate the pnCCD detector, we developed an FPGA-based fast readout system which is a very compact design to install on the CubeSat mission.Also, we investigate the readout noise of CAMEX, which is the readout ASIC of pnCCD. As a result, the readout noise was ~ 7.4 e-. In this paper, we report the performance of pnCCD applying our compact FPGA-based data processing system

健常児・者におけるVictoria版Stroop Testの年齢による変化の検討

Victoria版Stroop Testにおける課題達成所要時間の年齢による変化について検討し、併せて各年齢群別標準値を得ることを目的とした。5歳1ヶ月から49歳0ヶ月の健常児・者193名を対象に、黒色で印刷された文字の色を読む（Word Reading:WR）課題、丸型カラーバッチの色名を言う（Color Naming:CN）課題、文字と印刷された色が異なる（Incongruent Color Naming:ICN）課題を行い、ICN課題達成所要時間に対するCN課題達成所要時間の差（以下ICN-CN）と比（以下ICN／CN）について年齢を説明変数とする単回帰分析を行った。その結果、全てにおいて年齢による有意な変化が見られ、成績が最良となる年齢は、WR課題において29.7歳、CN課題において29.0歳、ICN課題において30.2歳、ICN-CNにおいて31.0歳、ICN／CNにおいて34.5歳であることが明らかになった。また、各課題達成所要時間の差異についての一要因の分散分析を行った結果、有意差（F（2,576）＝179.312,p<.001）が認められた。多重比較（Turkey HSD)の結果、各課題間に有意差（WR課題とCN課題：p<.01、WR課題とICN課題：p<.001、CN課題とICN課題：p<.001）が認められ、WR課題、CN課題、ICN課題の順に有意な遅延を示した

The Stroop effect for Attention Deficit/Hyperactivity Disorder and Pervasive Developmental Disorder

注意欠陥/多動性障害（Attention Deficit/Hyperactivity Disorder ; AD/HD）および広汎性発達障害（Pervasive Developmental Disorder ; PDD)における干渉効果を検討することを目的とし、AD/HD群21名、PDD群23名、対照群101名を対象にストループテストを行い、Word Reading (WR)課題、Color Naming (CN)課題、Incongruent Color Naming (ICN)課題について評価した。対照群から得られた成績に95％の信頼区間を設け、AD/HD群およびPDD群の成績と比較した結果、AD/HD群においては大多数の症例が信頼区間の範囲内の成績を示した。一方、PDD群ではICN課題において23例中2例、ICN-CNにおいて23例中4例、ICN／CNにおいて23例中4例が95％信頼区間外の成績を示した。To clarify the interference effect in attention deficit/hyperactivity disorder (AD/HD) and pervasive developmental disorder (PDD), the Stroop test was performed with 21 children with AD/HD, 23 children with PDD and 101 normal subjects. Word reading, color naming (CN) and incongruent color naming (ICN) were measured, then, such indices as ICN-CN and ICN/CN as well as ICN scores were evaluated. Results obtained from children with AD/HD and PDD were compared with those from normal subjects applying the confidence interval of 95%. Most of the children with AD/HD were plotted within the range of 95% confidence interval. As for the PDD, 2 of 23 in ICN, 4 of 23 in ICN-CN and ICN/CN were plotted out of the 95% confidence interval. Further work on the characterization of the phenotype of PDD plotted out of the 95% confidence interval may aid in extending the clinical application of this test