Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers.

Balanced chromosomal translocation is one of chromosomal variations. Carriers of balanced chromosomal translocations have an increased risk of spontaneous miscarriage. To avoid the risk, preimplantation genetic testing (PGT) using comprehensive genomic copy number analysis has been developed. This study aimed to verify whether and how embryos from couples in which one partner is a balanced translocation carrier have a higher ratio of chromosomal abnormalities. A total of 894 biopsied trophectoderms (TEs) were obtained from 130 couples in which one partner was a balanced translocation carrier (Robertsonian translocation, reciprocal translocation, or intrachromosomal inversion) and grouped as PGT-SR. Conversely, 3269 TEs from 697 couples who experienced recurrent implantation failure or recurrent pregnancy loss were included in the PGT-A group. The transferable blastocyst ratio was significantly lower in the PGT-SR group, even when bias related to the sample number and patient age was corrected. Subgroup analysis of the PGT-SR group revealed that the transferable blastocyst ratio was higher in the Robertsonian translocation group. Because the PGT-SR group had a higher proportion of untransferable embryos than the PGT-A group, PGT using comprehensive genomic copy number analysis was more beneficial for balanced translocation carriers than for infertility patients without chromosomal translocations. The frequencies of de novo aneuploidies were further analyzed, and the frequency in the PGT-SR group was lower than that in the PGT-A group. Therefore, we could not confirm the existence of interchromosomal effects in this study.

The Structure of Working Memory and Its Relationship with Intelligence in Japanese Children.

There is a host of research on the structure of working memory (WM) and its relationship with intelligence in adults, but only a few studies have involved children. In this paper, several different WM models were tested on 170 Japanese school children (from 7 years and 5 months to 11 years and 6 months). Results showed that a model distinguishing between modalities (i.e., verbal and spatial WM) fitted the data well and was therefore selected. Notably, a bi-factor model distinguishing between modalities, but also including a common WM factor, presented with a very good fit, but was less parsimonious. Subsequently, we tested the predictive power of the verbal and spatial WM factors on fluid and crystallized intelligence. Results indicated that the shared contribution of WM explained the largest portion of variance of fluid intelligence, with verbal and spatial WM independently explaining a residual portion of the variance. Concerning crystallized intelligence, however, verbal WM explained the largest portion of the variance, with the joint contribution of verbal and spatial WM explaining the residual part. The distinction between verbal and spatial WM could be important in clinical settings (e.g., children with atypical development might struggle selectively on some WM components) and in school settings (e.g., verbal and spatial WM might be differently implicated in mathematical achievement).

Cognitive Orientation to Daily Occupational Performance: A Randomized Controlled Trial Examining Intervention Effects on Children with Developmental Coordination Disorder Traits.

Children with traits of developmental coordination disorder (DCD-t) may experience occupational performance problems that go unrecognized and therefore may not be adequately supported. The cognitive orientation to daily occupational performance (CO-OP) approach has been effective in interventions for developmental coordination disorder (DCD). Based on an open-label, randomized controlled trial design, this study evaluated the effects of CO-OP on the occupational performance and motor skills of older kindergarten children with DCD-t using the School Assessment of Motor and Process Skills (S-AMPS) and the Movement Assessment Battery for Children, Second Edition. Children with a total DCDQ score of less than 40 or M-ABC2 scores in the 5th to 16th percentile were considered to have DCD-t. Furthermore, children with DCD-t and S-AMPS process skills less than 0.7 were considered to have DAMP (Deficits in Attention, Motor control and Perception)-t. After 3 months of CO-OP intervention, the performance and motor skills of children with DCD-t improved significantly. However, there were no significant changes noted in the motor skills of children with DAMP-t, although their occupational performance improved. These results suggest that CO-OP is effective even for older kindergarten children with DCD-t. However, further improvement of the CO-OP approach or a different strategy is required for children with ADHD comorbidity.

Interaction during online classes fosters engagement with learning and self-directed study both in the first and second years of the COVID-19 pandemic.

Maintaining students' learning engagement was a challenge in emergency online education during the pandemic. In this study, we investigated the predictors (social interaction) and outcomes (self-directed study) of engagement in online learning during the first and second years of the COVID-19 pandemic. First-year Japanese university students (N = 1167) enrolled in online classes during 2020 and 2021 responded to a questionnaire measuring perceived opportunities for social interaction during online classes, engagement with online learning, and extracurricular self-directed study time. Multi-group path analysis revealed that social interaction during online classes exhibited a positive indirect effect on self-directed study time through emotional and behavioral engagement with online learning. The positive indirect effect was significant in both the first and second years of the pandemic. The results suggest that increasing the number of opportunities for social interaction during online classes may exhibit spillover effects on learning outside the online classroom.

Pre-movement gating of somatosensory evoked potentials in Tourette syndrome.

OBJECTIVE: Tourette syndrome (TS) is a neurobehavioral disorder characterized by motor and vocal tics. Simple tics are purposeless involuntary movements that spontaneously resolve during middle adolescence. Complex tics appear to be semi-voluntary movements that may become intractable when associated with obsessive-compulsive disorder (OCD). Sensory tics or urges preceded by tics suggest sensorimotor processing impairment in TS. We aimed to clarify its pathophysiology by exploring the pre-movement gating (attenuation) of somatosensory evoked potentials (SEPs). METHODS: We examined 42 patients (aged 9-48 years), 4 of whom underwent follow-up assessment, along with 19 healthy controls. We defined patients with only simple tics as TS-S and patients with complex tics as TS-C. Pre-movement gating of SEPs was assessed using a previously described method. Frontal N30 (FrN30) amplitudes were compared between pre-movement and resting states. The gating ratio of pre-movement/resting amplitude of the FrN30 component was assessed: the larger the ratio, the less the gating. RESULTS: The gating ratio for TS-C patients was larger than that of TS-S patients and healthy controls, but a statistical difference between TS-S and TS-C appeared after 15 years and over (p < 0.001). There were no significant differences in the gating ratio between TS-S patients and healthy controls. The gating ratio was related to the severity of OCD (p < 0.05). CONCLUSION: Sensorimotor processing was preserved for simple tics but impaired in complex tics, specifically after middle adolescence. Our study supports an age-dependent dysfunction of both motor and non-motor cortico-striato-thalamo-cortical circuits in complex tics. SEP gating seems promising as a tool for assessing age-dependent sensorimotor disintegration in TS.

Modulation effects of the intact motor skills on the relationship between social skills and motion perceptions in children with autism spectrum disorder: A pilot study.

BACKGROUND: An individual with autism spectrum disorder (ASD) has social skill, motor skill, and motion perception deficits. However, the relationship among them was not clarified. Therefore, this study aimed to evaluate the effects of motor skills on social skills and motion perception. METHODS: Five typically developed children and fourteen children with ASD participated in our study. The N200 component, a brain activity indicating motion perception, was induced in mid-temporal (MT/V5) brain area by watching a random dot kinematograph, and was recorded using a scalp electroencephalogram. Furthermore, the social responsiveness scale (SRS) indicating the social skill deficit, the developmental coordination disorder questionnaire (DCDQ) estimating the developmental coordination disorder (DCD), and the movement assessment battery for children second edition (MABC-2) indicating motor skills were recorded in the children with ASD. A hierarchical multiple regression analysis was conducted to examine the modulation effects of motor skills on the relationship between social skills and motion perception. The dependent variable was the N200 latency, and the independent variables were SRS, MABC-2, and combined MABC-2 and SRS. RESULTS: The N200 latency was more delayed in children with ASD relative that in typically developed children. Intact balance ability modulated the relationship between social skills and N200 latency in children with ASD. Within the high balance ability, when the social skills worsened, the N200 latency was shortened. CONCLUSIONS: This is the first report that intact motor skills could modulate the relationship between social skills and motion perception.

Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants.

The guidelines provided by American College of Medical Genetics and Genomics (ACMG) and the Association of Molecular Pathology (AMP) (ACMG/AMP guidelines) suggest a framework for the classification of clinical variants. However, the interpretations can be inconsistent, with each definition sometimes proving to be ambiguous. In particular, there can be difficulty with interpretation of variants related to the X-linked recessive trait. To confirm whether there are biases in the interpretation of inherited traits, we reanalyzed variants reported prior to the release of the ACMG/AMP guidelines. As expected, the interpretation ratio as pathogenic or likely pathogenic was significantly lower for variants related to the X-linked recessive trait. Evaluation of variants related to the X-linked recessive trait, hence, need to consider whether the variant is identified only in males in accordance with the X-linked recessive trait. The ACMG/AMP guidelines should be revised to eliminate the bias revealed in this study.

Detection of deviance in Japanese kanji compound words.

Reading fluency is based on the automatic visual recognition of words. As a manifestation of the automatic processing of words, an automatic deviance detection of visual word stimuli can be observed in the early stages of visual recognition. To clarify whether this phenomenon occurs with Japanese kanji compounds-since their lexicality is related to semantic association-we investigated the brain response by utilizing three types of deviants: differences in font type, lexically correct or incorrect Japanese kanji compound words and pseudo-kanji characters modified from correct and incorrect compounds. We employed magnetoencephalography (MEG) to evaluate the spatiotemporal profiles of the related brain regions. The study included 22 adult native Japanese speakers (16 females). The abovementioned three kinds of stimuli containing 20% deviants were presented during the MEG measurement. Activity in the occipital pole region of the brain was observed upon the detection of font-type deviance within 250 ms of stimulus onset. Although no significant activity upon detecting lexically correct/incorrect kanji compounds or pseudo-kanji character deviations was observed, the activity in the posterior transverse region of the collateral sulcus (pCoS)-which is a fusiform neighboring area-was larger when detecting lexically correct kanji compounds than when detecting pseudo-kanji characters. Taken together, these results support the notion that the automatic detection of deviance in kanji compounds may be limited to a low-level feature, such as the stimulus stroke thickness.

Repetitive transcranial magnetic stimulation decreased effortful frontal activity for shifting in patients with major depressive disorder.

Patients with major depressive disorder (MDD) exhibit several clinical symptoms including difficulties in flexible thinking. Flexible thinking mainly relies on a cognitive ability called shifting; however, the mechanisms underlying shifting in patients with MDD have not yet been clarified. Therefore, we conducted a preliminary intervention study to clarify the association between depression and shifting ability. We examined the hemodynamic responses in the frontal regions during the shifting task using functional near-infrared spectroscopy (fNIRS) in 21 patients with MDD who were treated using high-frequency repetitive transcranial magnetic stimulation (rTMS). Behavioral performance on the shifting task did not change between pre- and posttreatments, whereas patients who responded well to rTMS treatment showed a significant decrease in hemodynamic responses posttreatment. On the other hand, the poor responders did not show significant changes in the hemodynamic responses between pre- and posttreatments. These results suggest that the good responders were successfully remedied with rTMS treatment and did not need effortful activity in frontal regions for shifting, which made their brain activity more efficient.

Online education and the mental health of faculty during the COVID-19 pandemic in Japan.

While the negative impact of the pandemic on students' mental health has been studied around the world, very little is known about the mental health of faculty and staff. This research aims to examine mental health among Japanese faculty members who taught online courses during the COVID-19 pandemic. We recruited 537 university faculty members and assessed their mental health using the World Health Organization-Five Well-Being Index (WHO-5), both retrospectively (during the academic year before the onset of the pandemic) and during the pandemic. We also evaluated workload (number of online lectures taught and preparation time per class), difficulty in using information technology (IT) for online classes, and satisfaction with the university support service for online education. As a result, the WHO-5 score during the COVID-19 pandemic was significantly lower than before, and 33.5% of the faculty members were recognized as being at risk for mental illness during the COVID-19 pandemic. A binomial logistic regression analysis revealed two significant risk factors for mental illness-faculty members were more at risk for mental illness when they experienced difficulty in using IT for online classes, and were unsatisfied with the administrative support for online education. The deterioration of mental health during the COVID-19 was not predicted by workload, such as the number of online lectures and preparation time. These results suggest the importance of improving workplace support services, especially IT support, to prevent mental health deterioration among faculty teaching online.

Quality of life of children with neurodevelopmental disorders and their parents during the COVID-19 pandemic: a 1-year follow-up study.

This study aimed to reveal changes in the quality of life (QOL) of children with neurodevelopmental disorders and their parents, and the interaction between their QOL and parental mental state during the coronavirus 2019 (COVID-19) pandemic. Eighty-nine school-aged children and parents participated in surveys in May 2020 (T1) and May 2021 (T2). The parents completed questionnaires that assessed their QOL, depression, parenting stress, and living conditions. Children's temporary mood status was evaluated using the self-reported visual analog scale (VAS). Children's QOL and VAS at T2 were higher than their QOL at T1. Parents' QOL at T2 was lower than their QOL at T1. Severe parental depression at T1 had a synergistic effect on severe parenting stress and severe depressive state at T2. Additionally, children's high QOL at T1 had a synergistic effect on low parenting stress and children's high QOL at T2. Furthermore, children's low VAS scores and parents' low QOL at T2 were associated with deterioration of family economic status. Children and parents' QOL changed during the prolonged COVID-19 pandemic. Improvement in children's QOL was influenced by reduced maternal depressive symptoms. Public support for parental mental health is important to avoid decreasing QOL.

Laterality of prefrontal hemodynamic response measured by functional near-infrared spectroscopy before and after repetitive transcranial magnetic stimulation: A potential biomarker of clinical outcome.

The factors associated with the clinical outcomes of repetitive transcranial magnetic stimulation (rTMS) in patients with major depressive disorder (MDD) remain largely unexplored. Therefore, this study aimed to examine whether rTMS can change the functional laterality of the prefrontal hemodynamic response and whether baseline functional laterality can predict the clinical outcomes of rTMS using functional near-infrared spectroscopy (fNIRS). We included 19 patients with MDD who were treated with high-frequency rTMS. The verbal fluency task was used as the activation task. We calculated the laterality index (LI) based on the task-related oxygenation response in the frontal region. First, the LI was compared before and after rTMS treatment. Second, the reduction in the Montgomery-Åsberg Depression Rating Scale (MADRS) score was compared between the rightward dominance group (pre-LI < 0) and the leftward dominance group (pre-LI ≥ 0). The findings showed a significant change in the LI after rTMS treatment. The rightward dominance group had a significantly greater reduction in MADRS score than the leftward dominance group. Subsequently, the laterality of the task-related hemodynamic response of the prefrontal region shifted leftward following left high-frequency rTMS treatment. Thus, the pre-LI calculated using fNIRS data is a possible predictor of rTMS outcomes in patients with MDD.

Oral support for patients with severe motor and intellectual disabilities.

BACKGROUND: Oral support during feeding was clinically provided to patients with severe motor and intellectual disabilities (SMID) for the prevention of dysphasia. The present study investigated the advantages of oral support anatomically and functionally. METHODS: A videofluoroscopic swallowing study was conducted on nine patients with SMID (age = 5-41 years; mean age = 15.0; four males, five females) and 24 healthy adults (age = 26-67 years; mean age = 44.3; 16 males, eight females). The movements of the hyoid bone and mandible during pharyngeal swallowing were tracked, and the pharyngeal residues were evaluated. The temporal and spatial features of the movements were compared between patients with and without oral support as well as healthy adults. RESULTS: The mandible moved downward earlier and showed larger displacement in the patients with SMID. The patients also had insufficient anterior displacement of the hyoid, which was associated with the pharyngeal residue. This displacement was enhanced, and the pharyngeal residue decreased with oral support. CONCLUSIONS: Oral support to hold the mandible successfully improved hyoid excursion and reduced pharyngeal residue during swallowing, which is a simple and reliable strategy for the prevention of dysphasia in patients with SMID.

Psychological Status Associated With Low Quality of Life in School-Age Children With Neurodevelopmental Disorders During COVID-19 Stay-At-Home Period.

Background: This study seeks to ascertain how the COVID-19 stay-at-home period has affected the quality of life (QOL) of children with neurodevelopmental disorders (NDDs) who had experienced sleep schedules alteration and clarify what psychological status predicted low QOL in children with and without altered sleep patterns. Materials and Methods: Study participants were 86 children between 8 and 17 years of age (mean age, 11.7 years; 70 boys, 16 girls; mean intellectual quotient, 83.6). QOL was evaluated using the self-assessment KINDLR. Participants answered questions regarding depression and anxiety on a visual analog scale (VAS) for temporary mood. Their parents answered questionnaires regarding their maladaptive behaviors and differences in sleep patterns before and during the COVID-19 pandemic. The student's t-test was performed to examine the presence or absence of sleep changes in the children, which affected QOL, temporary mood, and maladaptive behaviors. Multiple or simple linear regression analyses were also performed to identify the psychogenic factors that significantly affected decreased QOL for each group with and without changes in sleep schedule. Results: During the COVID-19 stay-at-home period, 46.5% of participants experienced changes in sleep patterns. These changes were associated with decreased QOL as well as internalized symptoms. The decreased QOL of children with sleep patterns changed was predicted by a high level of depression. In addition, low QOL in children with unchanged sleep patterns was predicted by a high level of depression and low current mood status. Conclusions: Almost half of the participants experienced a poor sleep schedule during the stay-at-home period. These alterations in sleep patterns were associated with a low QOL. The QOL of children with a stable life schedule was affected not only by depressive tendencies but also temporary moods. Therefore, they need to live a fulfilling life to maintain their QOL. However, the QOL of children with poor sleep patterns was affected only by depressive tendencies. Hence, clinicians need to ensure that children with NDDs are well-diagnosed with depression and treated for sleep problems.

Clinical profile of reading ability and reading and writing achievement of children with borderline full-scale intellectual quotient: a prospective study.

BACKGROUND: Poor reading ability is one of the common causes of low academic performance. In previous studies, children with dyslexia were found to demonstrate poor academic achievement due to poor reading ability. However, the relationship between academic achievement and reading ability in children with a borderline full-scale intellectual quotient (FSIQ) is unknown. This study aimed to clarify the clinical characteristics of children with borderline FSIQ and poor reading ability, and differentiate these characteristics from those of children with higher FSIQ and poor reading ability. METHODS: A total of 126 children (aged 6-15 years) identified as having low academic performance were enrolled. The reading ability of children was assessed through their performance on the hiragana (Japanese syllabary) reading task, while their reading and writing achievement was assessed through their reading and writing score on the Kaufman Assessment Battery for Children, Second Edition. Children were categorized into two groups based on their FSIQ score (FSIQ > 85 and 85 ≥ FSIQ ≥ 70). Reading ability in children was evaluated by referring to the linear relationship between FSIQ and the standard deviation value of reading tasks in typically developing children. A one-way analysis of variance (ANOVA) was performed to examine clinical characteristics between higher and lower FSIQ groups. Associations between reading and writing achievement, reading ability, and ages of children were assessed using Pearson's product-moment correlation coefficients for the higher and lower FSIQ groups. RESULTS: Poorer reading and writing achievement was associated with poorer reading ability in the higher FSIQ group. Conversely, poorer reading and writing achievement and poor reading ability were associated with older age in the lower FSIQ group. CONCLUSIONS: Poor reading and writing achievement were associated with older age, not with poor reading ability in the lower FSIQ group. Children with lower FSIQ need appropriate educational interventions based on independent assessments to further their academic achievement and reading ability. Moreover, they need more frequent evaluations of their academic achievement than do children with higher FSIQ and poor reading ability since they are more likely to be at a lower academic achievement level at an older age.

Hyoid bone movement during swallowing and mechanism of pharyngeal residue in patients with profound intellectual and multiple disabilities.

OBJECTIVES: Dysphagia is linked to mortality risk among patients with profound intellectual and multiple disabilities (PIMD); the present study therefore aimed to clarify the characteristics of hyoid movements during swallowing and to examine the mechanism of dysphagia in patients with PIMD. METHODS: A retrospective video fluoroscopic swallowing study was conducted on 43 patients with PIMD (mean age = 25.4; 25 males, 18 females) and 24 healthy adults (mean age = 44.3; 16 males, 8 females). The movements of the hyoid bone and mandible were tracked frame by frame in the video footage, and their range of movements and trajectories were analyzed. RESULTS: Most patients showed atypical movement trajectories of the hyoid, such as insufficient anterior movement and increased range of mandibular downward movement, compared with normal adults. Moreover, the mechanism of dysphagia was revealed by structural equation modeling, indicating that insufficient anterior movement could lead to pharyngeal residue in the pyriform sinus. CONCLUSION: The insufficient anterior movement of the hyoid could be caused by weak ventral suprahyoid muscles and atypical head and neck posture characteristic of patients with PIMD. It may be useful to predict pharyngeal residue from the range of hyoid movements and trajectories for the prevention of aspiration.

The quality of life of children with neurodevelopmental disorders and their parents during the Coronavirus disease 19 emergency in Japan.

This study aimed to reveal how the COVID-19 stay-at-home period has affected the quality of life (QOL) of children with neurodevelopmental disorders and their parents and to identify possible factors that enabled them to maintain their QOL. We enrolled 136 school-aged children (intellectual quotient ≥ 50) and their parents and administered QOL questionnaires to assess the maladaptive behavior of the children; depression, anxiety, and stress of the parents; and activities of their daily lives. The relationship between their QOL and clinical features was examined. The decrease in QOL of children and parents was associated with the mother's limited job flexibility. Decreased QOL was also associated with changes in the sleep rhythms of the children. Maladaptive behaviors in children were associated with parental stress. However, maintained QOL of some families who faced these same conditions of job stress and sleep disorders was associated with less parental stress, less parental depression and anxiety, and milder maladaptive behavior in children. Both mothers with limited job flexibility and changes in the sleep rhythm of children were associated with reduced QOL of children and their parents. Low parental stress was associated with decreased maladaptive behavior in children and with maintained QOL of the family.

Improvement of brain function after surgery in infants with posterior quadrant cortical dysplasia.

OBJECTIVE: To reveal whether neurodevelopmental outcome of infants after epilepsy surgery can be quantitatively assessed by electroencephalography (EEG) functional connectivity analysis. METHODS: We enrolled 13 infants with posterior quadrant dysplasia aged <2 years who were treated using posterior quadrantectomy and 21 age-matched infants. EEG was performed both before and one year after surgery. Developmental quotient (DQ) was assessed both before and 3 years after surgery. The phase lag index (PLI) of three different pairs of electrodes in the nonsurgical hemisphere, i.e., the anterior short distance (ASD), posterior short distance (PSD), and long distance (LD) pairs, were calculated as indices of brain connectivity. The relationship between the PLI and DQ was evaluated. RESULTS: Overall, 77% infants experienced seizure freedom after surgery. The beta- and gamma- range PLI of PSD pairs increased preoperatively. All these pairs normalized postoperatively. Simple linear regression analysis revealed a significant relationship between the postoperative DQ and the postoperative beta-band PLI of ASD pairs. CONCLUSION: Preoperative abnormal hyper-connectivity was normalized to the control level after surgery. The postoperative hyperconnectivity was associated with long-term neurodevelopmental improvement. SIGNIFICANCE: PLI quantifies neurodevelopmental improvements after posterior quadrantectomy.

Postoperative improvement of executive function and adaptive behavior in children with intractable epilepsy.

INTRODUCTION: An alteration in postoperative cognitive function varies according to the patients' background characteristics, such as etiology, focus, and seizure duration. Accurate prediction and assessment of postoperative cognitive function is difficult in each patient. Adaptive behavior could describe the typical performance of daily activities and represents the ability to translate cognitive potential into real-world skills. We examined the relationship between alterations of executive function (EF) and adaptive behavior in school children undergoing surgery for intractable epilepsy. METHODOLOGY: We enrolled 31 children with focal resection or corpus callosotomy for intractable epilepsy [mean age at surgery, 12.5 years; 16 boys; mean intellectual quotient, 73.3]. We surveyed answered questionnaires on attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and adaptive behavior using the Vineland Adaptive Behavior Scale, 2nd edition (VABS-II), and performed continuous performance tests (CPTs) on children pre- and postoperatively. RESULT: ADHD and ASD symptoms improved after epilepsy surgery. The omission error (OE) in the CPT variable improved after epilepsy surgery, especially in children with a shorter preoperative period. Improved ASD symptoms led to an increased score of the coping skills subdomain. The reduced OE observed after surgery also increased the score of the community skills subdomain. CONCLUSION: Improvement in EF and ASD symptoms resulted in better adaptive behavior postoperatively. These results were important for the pre- and postoperative evaluation and re-evaluation of children with epilepsy requiring special education and related services.