Bilateral Prefrontasl Cortex Blood Flow Dynamics during Silent and Oral Reading Using Near-Infrared Spectroscopy

This study aimed to investigate blood flow dynamics in the bilateral prefrontal cortex during silent and oral reading using near-infrared spectroscopy (NIRS). The subjects were 40 right-handed university students (20.5±1.8 years old, 20 men and 20 women). After completing the NIRS measurements, the subjects were asked to rate their level of proficiency in silent and oral reading, using a 5-point Likert scale. During oral reading, the left lateral prefrontal cortex (Broca's area) was significantly more active than the right side. During silent reading, prefrontal cortex activity was lower than that during oral reading, and there was no significant difference between both sides of the brain. A significant negative correlation was found between the change in oxy-hemoglobin (oxy-Hb) concentration in the left and right lateral prefrontal cortex during silent reading and silent reading speed. In addition, students with lower self-reported reading proficiency had significantly greater changes in oxy-Hb concentrations in the left and right lateral prefrontal cortex during silent/oral reading than did students with higher self-reported reading proficiency. Reading task assessment using NIRS may be useful for identifying language lateralization and Broca's area. The results demonstrate that NIRS is useful for assessing effortful reading and may be used to diagnose developmental dyslexia in children. J. Med. Invest. 71 : 92-101, February, 2024.

The Journal of Medical Investigation : JMI


機能性構音障害と読み書きの関連性についてー読み書きの症状チェック表より考察ー

機能性構音障害と読み書きの関連性についてー読み書きの症状チェック表より考察ー


個別学習支援を行った限局性学習症を有する子どもの脳機能評価

個別学習支援を行った限局性学習症を有する子どもの脳機能評価


The roles and competencies of welfare commissioners supporting children with developmental disorders and their families expected by Japans public health nurses


読字障害における光トポグラフィー(NIRS)を用いた脳機能評価

読字障害における光トポグラフィー(NIRS)を用いた脳機能評価


黙読・音読時の脳血流動態 --- ーNIRSを用いた解析ー

黙読・音読時の脳血流動態 --- ーNIRSを用いた解析ー


読字障害と脳活動に関する最新の研究

読字障害と脳活動に関する最新の研究


絵本の読み聞かせ聴取時におけるNIRSを用いた脳反応の検討

絵本の読み聞かせ聴取時におけるNIRSを用いた脳反応の検討


A partial ARID1B deletion in a female child with intractable epilepsy


Usefulness of near-infrared spectroscopy (Nirs) for evaluating drug effects and improvements in medication adherence in children with attention deficit hyperactivity disorder (adhd)

The symptoms of attention deficit hyperactivity disorder (ADHD) are inattention, hyperactivity, and impulsiveness. Physicians often prescribe methylphenidate (MPH) for children with ADHD for long periods of time. The purpose of the present study was to investigate the usefulness of near-infrared spectroscopy (NIRS) for evaluating drug effects and improvements in medication adherence in children with ADHD. Subjects were 10 male children diagnosed with ADHD : average age, 9.3 years, and 10 boys with typical development : average age 9.5 years. Children with intellectual disability, autism, and obvious depressive symptoms were excluded. The present study revealed that in the ADHD group, oxy-Hb concentrations in the left and right lateral prefrontal cortex significantly increased during the execution of the Stroop color-word test in both channels when taking MPH. This method was considered to be useful for assessing drug effects on ADHD because NIRS is an objective indicator for evaluating ADHD executive dysfunction and visualizes the activation of frontal lobe function by MPH. A pediatric neurologist explained the results of NIRS while presenting images to the ADHD group, and medication adherence and the drug-taking ratio both markedly improved. Therefore, this therapeutic explanation is an effective strategy for improving medication compliance and adherence among patients. J. Med. Invest. 68 : 53--58, February, 2021.


Multi-delay arterial spin labeling brain magnetic resonance imaging study for pediatric autism.

Arterial spin labeling (ASL) is a non-invasive magnetic resonance imaging (MRI) technique that can measure regional cerebral blood flow (rCBF) without radiation exposure. This study aimed to evaluate rCBF in individuals with autism and their age-matched controls, globally and regionally.

We concluded that patients with ASD showed a statistically significant decline in CBF in regions associated with the mirror neuron system. The advantages of ASL MRI include low invasiveness (no radiation exposure) and short imaging time (approximately 5 min). Studies with larger sample sizes are required to establish the diagnostic value of ASL MRI for ASD.


Features of Difficulty in Child Raising and Resilience of Nurturing Mothers with Past Experience of Adversity

International Journal of Nursing & Clinical Practices


A 16q22.2-q23.1 deletion identified in a male infant with West syndrome.

In partial monosomy of the distal part of chromosome 16q, abnormal facial features, intellectual disability (ID), and feeding dysfunction are often reported. However, seizures are not typical and the majority of them were seizure-free. Here we present the case of a 16q22.2-q23.1 interstitial deletion identified in a male patient with severe ID, facial anomalies including forehead protrusions and flat nose bridge, patent ductus arteriosus, bilateral vocal cord atresia treated by tracheotomy, and West syndrome, which were developed 10months after birth. Although phenobarbital, sodium valproate (VPA), and zonisamide were not effective as monotherapies or combination therapies, the patient's epileptic seizures and electroencephalogram anomalies disappeared following combined therapy with lamotrigine and VPA. Although WW Domain Containing Oxidoreductase (WWOX), which is known as a cause of autosomal recessive epileptic encephalopathy, was included within the 6.8-Mb deleted region which identified by targeted panel sequencing and validated by chromosomal microarray analysis, no pathogenic variants were detected in the other allele of WWOX. Therefore, it is possible that other genes within or outside of the long deleted region or their interactions may cause West syndrome in this patient.


Incidence of infantile spinal muscular atrophy on Shikoku Island of Japan.

Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by homozygous mutations in the SMN1 gene. SMA has long been known to be the most common genetic cause of infant mortality. However, there have been no reports on the epidemiology of infantile SMA (types 1 and 2) based on genetic testing in Japan. In this study, we estimated the incidence of infantile SMA on Shikoku Island, which is a main island of Japan and consists of four prefectures: Ehime, Kagawa, Tokushima and Kochi. A questionnaire was sent to 91 hospitals on Shikoku Island to investigate the number of SMA infants born from 2011 to 2015. A second questionnaire was then sent to confirm the diagnoses of SMA based on clinical and genetic features. Responses were received from all of the hospitals, and four patients were diagnosed with infantile SMA among 147,950 live births. We estimated the incidence of infantile SMA patients as 2.7 per 100,000 live births (95% confidence interval, 0.1-5.4). A comparison of the four prefectures indicated that the incidence of infantile SMA was significantly higher in Ehime Prefecture than in the other three prefectures; 5.6 per 100,000 live births (95% confidence interval, -0.7 to 11.9) in Ehime Prefecture and 1.1 per 100,000 live births (95% confidence interval, -1.0 to 3.1) in the other prefectures. We estimated the incidence of infantile SMA in an isolated area of Japan. For more precise determination of the incidence of infantile SMA, further studies that include neonatal screening will be needed.


けいれんと間違えやすい生理的運動・異常行動.

けいれんと間違えやすい生理的運動・異常行動.


Evaluation of Expression Recognition Function in Autism Spectrum Disorder Using Near-Infrared Spectroscopy


外国人留学生が日本で育児を行う上での困り事とニーズ

外国人留学生が日本で育児を行う上での困り事とニーズ


Relationship among Sleep Quality Physical Health Conditions and Lifestyle Habits among Elementary School Students


A Proton Magnetic Resonance Spectroscopic Study in Autism Spectrum Disorder Using a 3-Tesla Clinical Magnetic Resonance Imaging (MRI) System: The Anterior Cingulate Cortex and the Left Cerebellum.

The pathophysiology of autism spectrum disorder (ASD) is not fully understood. We used proton magnetic resonance spectroscopy to investigate metabolite concentration ratios in the anterior cingulate cortex and left cerebellum in ASD. In the ACC and left cerebellum studies, the ASD group and intelligence quotient- and age-matched control group consisted of 112 and 114 subjects and 65 and 45 subjects, respectively. In the ASD group, γ-aminobutyric acid (GABA)+/ creatine/phosphocreatine (Cr) was significantly decreased in the anterior cingulate cortex, and glutamate (Glu)/Cr was significantly increased and GABA+/Cr was significantly decreased in the left cerebellum compared to those in the control group. In addition, both groups showed negative correlations between Glu/Cr and GABA+/Cr in the left cerebellum, and positive correlations between GABA+/Cr in the anterior cingulate cortex and left cerebellum. ASD subjects have hypoGABAergic alterations in the anterior cingulate cortex and hyperglutamatergic/hypoGABAergic alterations in the left cerebellum.


Assessment of Anterior Cingulate Cortex (ACC) and Left Cerebellar Metabolism in Asperger's Syndrome with Proton Magnetic Resonance Spectroscopy (MRS).

Proton magnetic resonance spectroscopy (1H MRS) is a noninvasive neuroimaging method to quantify biochemical metabolites in vivo and it can serve as a powerful tool to monitor neurobiochemical profiles in the brain. Asperger's syndrome (AS) is a type of autism spectrum disorder, which is characterized by impaired social skills and restrictive, repetitive patterns of interest and activities, while intellectual levels and language skills are relatively preserved. Despite clinical aspects have been well-characterized, neurometabolic profiling in the brain of AS remains to be clear. The present study used proton magnetic resonance spectroscopy (1H MRS) to investigate whether pediatric AS is associated with measurable neurometabolic abnormalities that can contribute new information on the neurobiological underpinnings of the disorder. Study participants consisted of 34 children with AS (2-12 years old; mean age 5.2 (±2.0); 28 boys) and 19 typically developed children (2-11 years old; mean age 5.6 (±2.6); 12 boys) who served as the normal control group. The 1H MRS data were obtained from two regions of interest: the anterior cingulate cortex (ACC) and left cerebellum. In the ACC, levels of N-acetylaspartate (NAA), total creatine (tCr), total choline-containing compounds (tCho) and myo-Inositol (mI) were significantly decreased in children with AS compared to controls. On the other hand, no significant group differences in any of the metabolites were found in the left cerebellum. Neither age nor sex accounted for the metabolic findings in the regions. The finding of decreased levels of NAA, tCr, tCho, and mI in the ACC but not in left cerebellar voxels in the AS, suggests a lower ACC neuronal density in the present AS cohort compared to controls.


Effects of primary prevention of child abuse that begins during pregnancy and immediately after childbirth.

Identification of at-risk parents during pregnancy and early intervention resulted in a decrease in the rate of referrals to child protective centers. The specific risk factors of "perceived lack of social support", "mental illness" and "teen pregnancy" may be mitigated by early intervention. J. Med. Invest. 64: 153-159, February, 2017.

The Journal of Medical Investigation : JMI


子どもの時の家庭環境が''落着けなかった''養育者の子育てに関する検討

子どもの時の家庭環境が''落着けなかった''養育者の子育てに関する検討

子どもの虐待とネグレクト

子どもの虐待とネグレクト


Relationship between sleep-wake rhythms and autonomic nerve activities of elementary school children through Actigraphy

小学校高学年児童の睡眠・覚醒リズムと自律神経活動の関係

The purpose of this study was to clarify the relationship between sleep-wake rhythms and autonomic nerve activities using actigraphy and heart rate variability(HRV)analysis. Subjects were comprised of six children who were in the fourth to sixth grade levels of elementary school(four boys and two girls). The study was conducted between January and December 2015. The data collection procedure was performed following the Private Information Protection Law, with approval from Tokushima University Hospital Ethics Board(approval number 2021). These subjects were evaluated in an Attentive-Care-Needed stress state based on the PSI(Public Health Research Foundation Type Stress Inventory)and PSQI-J(Pittsburgh Sleep Quality Index, Japanese Version). In analyzing their sleep-wake rhythms, autonomic nervous activities were determined using an actigraph and HRV through RR interval sequence electrocardiography. The results of actigraph data of sleep efficiency in Subject Number 6 was low(76.47%). Regardless, the subject experienced subjective sleep satisfaction. However, Subject Number 2, insisted that she could not easily wake up in the morning because of being sleepy. Low Frequency(LF)/High Frequency(HF)data indicated sympathetic nervous activity showing that all subjects had significantlyhigher LF/HF value during wakefulness than when asleep. HF data indicated parasympatheticactivity of five out of the six children showing significantly higher value during sleep than when awake. Subject number 3 expressed that he was sleepy and could not get up in the morning,and also had trouble going to and maintaining sleep. However, this subject's results of the PSQI-Jindicated that he had no problem expressing subjective sleep satisfaction. Furthermore, in the actigraph and HRV analysis, findings showed that subjects had good sleeping patterns. These findings strongly signify the importance of determining the sleep-wake rhythms of school children based on data from subjective and physiological evaluation methods.


The relationship between parents with a history of childhood problems and incidence of consequent child abuse.

The purpose of this study was to determine the factors related to the need for cooperation with child guidance centers with a focus on the presence or absence of a history of childhood problems in at-risk parents receiving support from their municipality. Among the 1890 parents who received child care support from public health nurses in the municipalities, 164 parents (8.7%) had a history of childhood problems. Among these, 50 parents (30.5%) received support from child guidance centers. The parents with a history of childhood problems had a higher incidence rate for receiving support from child guidance centers than other parents. Multiple logistic regression analysis showed that "marital strife or domestic violence", and "financial problems" were associated with consultations with child guidance centers among parents with a history of childhood problems. The results showed that family situations of parents who had a history of childhood problems may, in time, become more severe, even if they have received support from public health nurses in the municipalities. Therefore, parents with a history of childhood problems need support as early as possible. In addition, those parents with "marital strife or domestic violence" and "financial problems" also need guidance and early nursing care interventions. J. Med. Invest. 63: 209-215, August, 2016.


Neuroimaging in autism spectrum disorders: 1H-MRS and NIRS study

Using proton magnetic resonance spectroscopy ((1)H-MRS), we measured chemical metabolites in the left amygdala and the bilateral orbito-frontal cortex (OFC) in children with autism spectrum disorders (ASD). The concentrations of N-acetylaspartate (NAA) in these regions of ASD were significantly decreased compared to those in the control group. In the autistic patients, the NAA concentrations in these regions correlated with their social quotient. These findings suggest the presence of neuronal dysfunction in the amygdala and OFC in ASD. Dysfunction in the amygdala and OFC may contribute to the pathogenesis of ASD. We performed a near-infrared spectroscopy (NIRS) study to evaluate the mirror neuron system in children with ASD. The concentrations of oxygenated hemoglobin (oxy-Hb) were measured with frontal probes using a 34-channel NIRS machine while the subjects imitated emotional facial expressions. The increments in the concentration of oxy-Hb in the pars opercularis of the inferior frontal gyrus in autistic subjects were significantly lower than those in the controls. However, the concentrations of oxy-Hb in this area were significantly elevated in autistic subjects after they were trained to imitate emotional facial expressions. The results suggest that mirror neurons could be activated by repeated imitation in children with ASD.


Lennox-Gastaut症候群, Dravet症候群に対するトピラマートの使用経験


Age-related changes in a patient with Pelizaeus-Merzbacher disease determined by repeated 1H-magnetic resonance spectroscopy.

A boy with Pelizaeus-Merzbacher disease underwent repeated evaluations by 3-Tesla (1)H-magnetic resonance spectroscopy (MRS). The patient showed overlap of the PLP1. Individuals selected as normal controls for (1)H-magnetic resonance spectroscopy consisted of healthy age-matched children. For (1)H-magnetic resonance spectroscopy, the center of a voxel was positioned in the right parietal lobe. (1)H-magnetic resonance spectroscopy was performed when the patient was 2, 6, 14, and 25 months old. γ-Aminobutyric acid concentration in early childhood was increased compared with that in normal controls. However, the γ-aminobutyric acid concentration in the Pelizaeus-Merzbacher disease patient was normalized at 14 and 25 months. No remarkable changes were observed in choline-containing compounds concentration at any time. These results suggest that the changes in metabolite concentrations during growth can reflect the pathological condition of Pelizaeus-Merzbacher disease. Furthermore, the lack of change in the choline-containing compounds concentration can be useful for differentiating Pelizaeus-Merzbacher disease from other white matter disorders.


Hemodynamic activities in children with autism while imitating emotional facial expressions: a near-infrared spectroscopy study

自閉症における表情模倣時の脳血流変化 -NIRSによる検討-

Objective: To examine the hemodynamic activities in the frontal lobe, children with autistic disorder and matched controls underwent near-infrared spectroscopy (NIRS) while imitating emotional facial expressions. Methods: The subjects consisted of 10 boys with autistic disorder without mental retardation (9∼14 years) and 10 normally developing boys (9∼14 years). The concentrations of oxyhemoglobin (oxy-Hb) were measured with frontal probes using a 34-channel NIRS machine while the subjects imitated emotional facial expressions. Results: The increments in the concentration of oxy-Hb in the pars opercularis of the inferior frontal gyrus in autistic subjects were significantly lower than those in the controls. However, the concentrations of oxy-Hb in this area were significantly elevated in autistic subjects after they were trained to imitate emotional facial expressions. The increments in the concentration of oxy-Hb in this area in autistic subjects were positively correlated with the scores on a test of labeling emotional facial expressions. Conclusions: The pars opercularis of the inferior frontal gyrus is an important component of the mirror neuron system. The present results suggest that mirror neurons could be activated by repeated imitation in children with autistic disorder.

【目的】近赤外線スペクトロスコピー (NIRS) を用い, 顔表情の模倣課題を施行中の前頭葉活動について, 自閉症と定型発達の小児例で比較検討する. 【方法】対象は定型発達の男児10例, 知的障害を有さない自閉性障害の男児10例. NIRS測定のため左右前頭部にそれぞれ17チャンネルのプローブを装着した. 【結果】自閉症群において初回検査時, 両側下前頭回弁蓋部 (Broca野) での酸素化ヘモグロビン (oxy-Hb) 濃度の上昇は, 定型発達児に比べ有意に低かったが, 同じ課題を複数回練習してから, 再度, NIRSを施行したところ, 同部でoxy-Hb濃度の有意な上昇が認められた. 自閉症群におけるoxy-Hb濃度の変化量と感情ラベリング成績の間には正の相関関係が認められた. 【結論】自閉症においても模倣運動を繰り返すことによりミラーニューロンを賦活できる可能性が示唆された.


簡易版就学前幼児(4-6歳)用発達障害チェック・リスト(BCD46) -5歳児検診での有用性の検討-


Effective treatment of a 13-year-old boy with steroid-dependent ocular myasthenia gravis using tacrolimus

Over the past several years, tacrolimus has attracted attention as a new therapeutic drug for myasthenia gravis (MG), but few reports have considered its use for MG in pediatric patients, and most of these have focused on severe systemic MG. In this case report, we used tacrolimus to successfully treat a 13-year-old boy with ocular MG who had suffered from severe steroid complications, including a failure of thrive and osteoporosis. He first showed symptoms of ocular MG at age 2 years 3 months. At age 13 years, he was receiving PSL (3.75 mg/day), but the symptoms of ocular MG recurred. We increased the dosage of oral PSL up to 30 mg/day, and three courses of mPSL pulse therapy were applied, but these therapies had only limited effect, and his symptoms worsened. Tacrolimus was started at 0.4 mg/day (0.011 mg/kg/day), and every 2 weeks the dose was gradually increased by 0.2 mg/day. His symptoms of MG began to improve 3 weeks after the initial administration of tacrolimus. Approximately 3 months after the start of tacrolimus administration, PSL was discontinued. Currently, at 1 year and 4 months after the start of tacrolimus administration, while slight ptosis is observed in the evening, it does not influence his daily life, and his condition remains comparable to that when he stopped taking PSL. No adverse effects of tacrolimus have been recognized. In pediatric patients with steroid-dependent ocular MG without thymectomy, tacrolimus may be a safe and effective alternative to steroid and thymectomy.


A proton magnetic resonance spectroscopic study in autism spectrum disorders: amygdala and orbito-frontal cortex.

We previously reported neural dysfunction in the anterior cingulate cortex and dorsolateral prefrontal cortex in autistic patients using proton magnetic resonance spectroscopy ((1)H-MRS). In this investigation, we measured chemical metabolites in the left amygdala and the bilateral orbito-frontal cortex (OFC), which are the main components of the social brain. We also examined the association between these metabolic findings and social abilities in subjects with autism. The study group included 77 autistic patients (3-6years old; mean age 4.1; 57 boys and 20 girls). The control subjects were 31 children (3-6years old; mean age 4.0; 23 boys and 8 girls). Conventional proton MR spectra were obtained using the STEAM sequence with parameters of TR=5 sec and TE=15 msec by a 1.5-tesla clinical MRI system. We analyzed the concentrations of N-acetylaspartate (NAA), creatine/phosphocreatine (Cr), and choline-containing compounds (Cho) using LCModel (Ver. 6.1). The concentrations of NAA in the left amygdala and the bilateral OFC in autistic patients were significantly decreased compared to those in the control group. In the autistic patients, the NAA concentrations in these regions correlated with their social quotient. These findings suggest the presence of neuronal dysfunction in the amygdala and OFC in autism. Dysfunction in the amygdala and OFC may contribute to the pathogenesis of autism.


Developmental changes in facial expression recognition in Japanese school-age children.

Facial expressions hold abundant information and play a central part in communication. In daily life, we must construct amicable interpersonal relationships by communicating through verbal and nonverbal behaviors. While school-age is a period of rapid social growth, few studies exist that study developmental changes in facial expression recognition during this age. This study investigated developmental changes in facial expression recognition by examining observers' gaze on others' expressions. 87 school-age children from first to sixth grade (41 boys, 46 girls). The Tobii T60 Eye-tracker(Tobii Technologies, Sweden) was used to gauge eye movement during a task of matching pre-instructed emotion words and facial expressions images (neutral, angry, happy, surprised, sad, disgusted) presented on a monitor fixed at a distance of 50 cm. In the task of matching the six facial expression images and emotion words, the mid- and higher-grade children answered more accurately than the lower-grade children in matching four expressions, excluding neutral and happy. For fixation time and fixation count, the lower-grade children scored lower than other grade children, gazing on all facial expressions significantly fewer times and for shorter periods. It is guessed that the stage from lower grades to middle grades is a turning point in facial recognition.

The Journal of Medical Investigation : JMI


A case of Early Childhood-onset Narcolepsy

5歳発症のナルコレプシーの1例

The Journal of the Japan Pediatric Society


Evaluation of the GABAergic nervous system in autistic brain: (123)I-iomazenil SPECT study.

To evaluate the GABA(A) receptor in the autistic brain, we performed (123)I-IMZ SPECT in patients with ASD. We compared (123)I-IMZ SPECT abnormalities in patients who showed intellectual disturbance or focal epileptic discharge on EEG to those in patients without such findings. The subjects consisted of 24 patients with ASD (mean age, 7.3±3.5 years), including 9 with autistic disorder (mean age, 7.0±3.7 years) and 15 with Asperger's disorder (mean age, 7.5±3.2 years). We used 10 non-symptomatic partial epilepsy patients (mean age, 7.8±3.6 years) without intellectual delay as a control group. For an objective evaluation of the (123)I-IMZ SPECT results, we performed an SEE (Stereotactic Extraction Estimation) analysis to describe the decrease in accumulation in each brain lobule numerically. In the comparison of the ASD group and the control group, there was a dramatic decrease in the accumulation of (123)I-IMZ in the superior and medial frontal cortex. In the group with intellectual impairment and focal epileptic discharge on EEG, the decrease in accumulation in the superior and medial frontal cortex was greater than that in the group without these findings. The present results suggest that disturbance of the GABAergic nervous system may contribute to the pathophysiology and aggravation of ASD, since the accumulation of (123)I-IMZ was decreased in the superior and medial frontal cortex, which is considered to be associated with inference of the thoughts, feelings, and intentions of others (Theory of Mind).


Stent placement in the ductus venosus of a neonate with total anomalous pulmonary venous return.


Decreased benzodiazepine receptor and increased GABA level in cortical tubers in tuberous sclerosis complex.

To elucidate the functional characteristics of cortical tubers that might be responsible for epilepsy in tuberous sclerosis complex (TSC), proton magnetic resonance spectroscopy ((1)H-MRS) and [123I] iomazenil (123I-IMZ) single photon emission computed tomography (SPECT) were performed. (1)H-MRS using a clinical 3-tesla magnetic resonance imager was performed in four children with TSC and 10 age-and sex-matched healthy control subjects. A single voxel was set on the right parietal lobe in control subjects. In patients with TSC, a single voxel was set on the epileptogenic tuber in the parietal or temporal lobe, and another voxel was set on the contralateral normal-appearing brain region. N-Acetylaspartate (NAA), myo-Inositol (mIns) and Glutamate (Glu) were analyzed using a conventional STEAM (Stimulated Echo Acquisition Mode) method. The concentration of gamma-aminobutyric acid (GABA) was quantified using MEGA-Point Resolved Spectroscopy (PRESS). Interictal 123I-IMZ SPECT was examined in all four patients with TSC. A significant decrease in the NAA concentration and significant increases in the mIns and GABA concentrations were detected in the cortical tubers of all 4 patients. No significant difference was observed in Glu concentrations. In all of the cortical tubers detected by magnetic resonance imaging, 123I-IMZ binding was significantly decreased. Epileptogenesis in TSC might be caused by decreased inhibition secondary to the decrease in GABA receptors in dysplastic neurons of cortical tubers. An increase in the GABA concentration may compensate for decreased inhibition.


Neuroradiological and neurofunctional examinations for patients with 22q11.2 deletion.

Since the neuroradiological features of patients with 22q11.2 deletion syndrome are not well-understood, examinations using functional imaging were performed in this study. Brain magnetic resonance imaging (MRI) and 1H-magnetic resonance spectroscopy (MRS) were performed using a clinical 3-Tesla MR imager in 4 patients with 22q11.2 deletion syndrome (2 boys and 2 girls; aged 2-6 years.) and 20 age- and sex-matched healthy control subjects. Furthermore, interictal 123I-iomazenil (IMZ) single photon emission computed tomography (SPECT) was examined in 2 of the 4 patients. Among the 4 patients with 22q11.2 deletion syndrome, 2 patients showed polymicrogyria and 1 patient showed agyria. Those patients with brain malformations also showed abnormal brain artery patterns and decreased accumulation of IMZ in 123I-IMZ SPECT. Although all 4 patients showed epileptic discharges in their electroencephalograms (EEG), one patient with polymicrogyria had no seizure episodes. Decreases in γ-aminobutyric acid (GABA) corresponding to the areas of polymicrogyria and/or epileptic discharges in EEG were shown in all patients except for the patient with agyria. Although consistent evidence was not seen in patients with 22q11.2 deletion syndrome in this study, brain malformations and disturbances of the GABAergic nervous system would be underlying mechanisms of the neurodevelopmental abnormalities in this syndrome.


Head circumference and body growth in autism spectrum disorders.

Research has shown that there is a relationship between increased head circumference and autism spectrum disorders (ASD). This study examined this relationship during the first year of life in subjects with ASD. We compared 280 children with ASD and 609 controls. In the ASD-male group, increases were observed in head circumference from 3 to 12months, in height from 3 to 9months, and in body weight from 3 to 6 and 12months. On the other hand, in the ASD-female group increases in head circumference, in body height, and in body weight were only observed at 3months. After adjusting for height, weight, and age, only the head circumference in the male ASD group was significantly increased from 6 to 9months after birth, reaching a peak at 6months after birth. No difference was found in the female ASD group. Although body overgrowth in the ASD group also started early after birth, the increase in head circumference was more marked than that in body growth. The values of physical measurements in the first year may be useful, minimally invasive parameters for the early detection of autism in combination with observing the timing of certain behaviors such as smiling, eye contact, crawling, pointing, and joint attention.


Non-invasive evaluation of the GABAergic/glutamatergic system in autistic patients observed by MEGA-editing proton MR spectroscopy using a clinical 3 tesla instrument.

Amino acids related to neurotransmitters and the GABAergic/glutamatergic system were measured using a 3 T-MRI instrument in 12 patients with autism and 10 normal controls. All measurements were performed in the frontal lobe (FL) and lenticular nuclei (LN) using a conventional sequence for n-acetyl aspartate (NAA) and glutamate (Glu), and the MEGA-editing method for GABA. The GABA level and [GABA]/[NAA] ratio were significantly lower (p < 0.01) in the FL, but not the LN, in patients with autism compared to normal controls. The [GABA]/[Glu] ratio in the FL was also significantly lower (p < 0.05) in the patients than in the normal controls, thus suggesting a possible abnormality in the regulation between GABA and Glu.

Journal of Autism and Developmental Disorders


Autonomic activity changes in frontal lobe function tests in young adults with high-functioning pervasive developmental disorder

高機能広汎性発達障害における前頭葉機能検査中の自律神経活動の変化


Administration of secretin for autism alters dopamine metabolism in the central nervous system.

We evaluated the clinical effects of intravenously administered secretin in 12 children with autism (age range: 4-6 years, median age: 9 years, boy:girl=8:4). In addition, we investigated the association between improvement in symptoms and changes in the cerebrospinal fluid (CSF) homovanillic acid (HVA),5-hydroxyindole-3-acetic acid (5-HIAA), and 6R-5,6,7,8-tetrahydro-L-biopterin (BH(4)) levels after administration. After administration of secretin, the Autism Diagnostic Interview-Revised (ADI-R) score improved in 7 of the 12 children. However, the score deteriorated in 2 of the 12 children (in the item of 'restricted and repetitive, stereotyped interests and behaviors'). The HVA and BH(4) levels in CSF were increased in all children with improvement in the ADI-R score. In contrast, no patient without the elevation of the BH(4) level showed improvement in the score. These findings suggest that secretin activated metabolic turnover of dopamine in the central nervous system via BH(4), improving symptoms.


[Efficacy of secretin for the treatment of autism].

We administered secretin intravenously to 14 patients with autism (9 to 14 years, 10 males; 4 females), and evaluated its clinical effect. We also measured cerebrospinal fluid (CSF) levels of homovanillic acid (HVA) and 5-hydroxy-indole-3-acetic acid (5HIAA) before and after 4 weeks treatment, and compared them with the grade of improvement of the clinical symptoms assessed by the scores of Autism Diagnostic Interview-Revised (ADI-R). After injection of secretin, the ADI-R score increased in 8 patients, but declined in 3. Improvement was observed in functions such as sociability (interpersonal relationships), communication and speech improved, whereas in the others. symptoms such as hyperkinesias and stereotyped behavior became worse. The CSF levels of HVA was significantly increased in all of the patients showing an improvement in the ADI-R score. SHIAA levels also tended to increase, although this increase was not significant. These findings suggest that secretin promotes the metabolism of serotonin and dopamine in the central nervous system, which may contribute to improvement in clinical symptoms of autism.


Difference of signal change by a language task on autistic patients using functional MRI

OBJECTIVE: Cerebral function with a language task was evaluated by functional magnetic resonance imaging (MRI), and the differences of activated pattern and signal changes were compared between autistic patients and normal controls. METHODS: Ten autistic and ten normal subjects were tested by fMRI with a language task requiring the attribution of complex mental states. Activation maps analyzed between two groups were generated and the asymmetry indexes calculated by the quotient of activated pixels of the right frontal lobe divided by those of the left frontal lobe were statistically compared by unpaired t-test. RESULTS: Both the autistic and the normal subjects showed activation at the bilateral prefrontal cortical areas and the ventral occipito-temporal regions. However, the autistic patients demonstrated more activation at the right frontal lobe than the normal controls. Thus it was considered that in the autistic patients the right-hemisphere was more dominant for the language task than that of the normal controls. The result is consist to the theory that autism is related to early left-hemisphere dysfunction. CONCLUSIONS: We considered that fMRI may be a useful non-invasive method to evaluate the cerebral functional abnormality in autistic patients.

The Journal of Medical Investigation : JMI


当院における機能性構音障害の実態∼訓練が長期化する要因∼．

当院における機能性構音障害の実態∼訓練が長期化する要因∼．


絵本の読み聞かせ聴取時における脳血流動態-NIRSおよび心拍変動を用いた解析-．


脳科学から読み解く発達障害

脳科学から読み解く発達障害


子育ての支援が必要な家族に関するリスク要因の検討

子育ての支援が必要な家族に関するリスク要因の検討


食物アレルギーを持つ就学前の子供の母親の不安とソーシャルサポート

食物アレルギーを持つ就学前の子供の母親の不安とソーシャルサポート


妊婦へのDVの実態と地域連携支援

妊婦へのDVの実態と地域連携支援


徳島県内に居住する幼児をもつ母親の育児支援ニーズ~自由記載の分析から

徳島県内に居住する幼児をもつ母親の育児支援ニーズ~自由記載の分析から


養護教諭がとらえた1型糖尿病の子どもをとりまく環境

養護教諭がとらえた1型糖尿病の子どもをとりまく環境


NIRSによる読書能力評価-黙読速度と前頭葉脳血流動態との関連より-

NIRSによる読書能力評価-黙読速度と前頭葉脳血流動態との関連より-


Default mode network abnormalities in children with autism spectrum disorder detected by resting-state functional magnetic resonance imaging.

The purpose of this study was to investigate changes in the functional connectivity of the default mode network (DMN) in normal aging and in children with autistic spectrum disorder (ASD) by using resting-state functional magnetic resonance imaging (rsfMRI) and independent component analysis. Thirty-one healthy controls (HC) in four age groups (1-3, 4-8, 20-29, and 50-59 years) and 14 childhood ASD cases (1-8 years of age) were examined by rsfMRI echo-planar imaging on a clinical 3-T MRI scanner. Imaging of all children (1-8 years) was conducted under sedation, while adults were scanned in the awake state with eyes closed. The regions of DMN functional connectivity in the bilateral inferior parietal lobule and posterior cingulate cortex were smaller in HC children than in HC adults, and smaller in the ASD group than in the HC children. It is possible to observe developmental and pathological changes in the DMN by rsfMRI. Reduced DMN functional connectivity in children may be a useful biomarker for ASD diagnosis. J. Med. Invest. 63: 204-208, August, 2016.


情緒障害児短期治療施設入所児童への性教育の効果と自己肯定感の関連

情緒障害児短期治療施設入所児童への性教育の効果と自己肯定感の関連


中学生に対する絵本の読み聞かせの効果に関する研究

中学生に対する絵本の読み聞かせの効果に関する研究


母親が感じる育てにくさとレジリエンスの関連

母親が感じる育てにくさとレジリエンスの関連


母親の''子どもに関する困りごと''と''育てにくさ''の関連

母親の''子どもに関する困りごと''と''育てにくさ''の関連


Case of early childhood-onset narcolepsy with cataplexy: comparison with a monozygotic co-twin.

We describe here a rare case of early childhood-onset (5 years of age) narcolepsy. This case was interesting because of the ability to compare the patient's symptoms to the condition of her healthy monozygotic co-twin sister. The only environmental difference between the co-twins was head injury, which may be associated with the presence of narcolepsy. The co-twin was extroverted, sociable, reliable, and dexterous. In contrast, the patient could be described as introverted, gentle, honest and persevering, but was weak at conversation, assessment of a situation, memory, planning, activity (she was inactive), a sense of time, understanding of an analog clock, operating efficiency, and physical education (due to obesity). The sisters showed the same degree of appetite and dexterity with their fingers. Narcolepsy is often under-recognized or underdiagnosed, especially when the onset occurs in childhood. When we observe preschoolers with excessive daytime sleepiness, we should consider the possibility of narcolepsy with cataplexy.


プライマリケアに活用できる簡易版就学前幼児(4~6歳)用発達障害チェック・リスト作成の試み


発達障害の脳内機序とその治療

発達障害の脳内機序とその治療


注意欠陥/多動性障害の神経生理学的研究

注意欠陥/多動性障害の神経生理学的研究


Transient left temporal lobe lesion in Menkes disease may influence the generation of tonic spasms.

We report a 7-month-old boy with Menkes disease who presented West syndrome. Magnetic resonance imaging (MRI) revealed atrophy of the frontal and parietal lobes, subdural hematoma on the right side, and left temporal lobe lesion (low intensity in T1-weighted imaging (T1-WI), high intensity in T2-weighted imaging (T2-WI) and low intensity in diffusion-weighted imaging (DW-I)) at 7 months of age. The apparent diffusion coefficient (ADC) was 1.68×10(-3)mm(2)/s in the left temporal lobe lesion and 1.15×10(-3)mm(2)/s on the contralateral side. (1)H-magnetic resonance spectroscopy ((1)H-MRS) revealed a decrease in N-acetylaspartate/(creatine+phosphocreatine) (NAA/Cr) (0.71) and a lactate peak in the left temporal lobe lesion. At 8 months of age, the left temporal lobe lesion disappeared, the ADC of this lesion was within the normal range (1.10×10(-3)mm(2)/s), and (1)H-MRS revealed a slight increase in NAA/Cr (1.12) and disappearance of the lactate peak. We suspected that the transient temporal lobe lesion in Menkes disease was mainly vasogenic edema. Electroencephalography (EEG) revealed left hemisphere dominant hypsarrhythmia and slowing in the left hemisphere. Ictal EEG revealed generalized slow wave burst with P3, T3 spike antecedence and the antecedent spike was consistent with left temporal lobe lesion. After disappearance of the left temporal lobe lesion, tonic spasms disappeared and EEG findings improved. In this case, the clinical course and ictal EEG suggested that epileptic activity from the left temporal lobe lesion may have given rise to tonic spasms.


Function of the frontal lobe in autistic individuals: a proton magnetic resonance spectroscopic study

In this investigation, we studied differences in chemical metabolites in certain brain regions between autistic patients and normal control subjects. Proton magnetic resonance spectroscopy ((1)H-MRS) was used to evaluate functional activity in these regions. Specific regions studied were right and left dorsolateral prefrontal cortex(DLPFC) and the anterior cingulated cortex(ACC). In the ACC, the N-acetylaspartate(NAA)/creatine/phosphocreatine(Cr) ratio in autistic patients (n=31) was significantly lower than that in control subjects (n=28). The decrease in the NAA/Cr ratio for the ACC was much greater in the group with worst social ability. NAA/Cr for the left DLPFC and social ability of autistic patients also correlated well. Furthermore, NAA/Cr for the left DLPFC in the group with intelligence quotient (IQ) below 50 was significantly less than in controls. NAA/Cr for the right DLPFC in autistic patients was not decreased compared to controls, and did not correlate with IQ or social ability. These findings suggest neuronal dysfunction in the ACC and left DLPFC in autism, and also a relationship between social disability and metabolic dysfunction in these regions. Dysfunction in the ACC and the left DLPFC may contribute to the pathogenesis of autism.