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Background: Difficulties in fine and gross motor skills are often overlooked as developmental problems, although approximately 6-13% of all school-age children have poor motor coordination. Understanding motor coordination is important from the perspective of school adaptation. This longitudinal cohort study aimed to determine whether fine and gross motor skills in preschool children predict later academic achievement and psychosocial maladaptation., Methods & Procedures: Participants were 2,501 children from nursery and elementary schools (5-13 years old). The motor skills of preschool children were assessed by their nursery teacher immediately before entering elementary school. The Strengths and Difficulties Questionnaire and a standardized Japanese test were administered annually throughout elementary school., Results: Early motor difficulties in preschool children had significant effects on their academic achievement and psychosocial maladaptation up until the sixth grade. Gross motor difficulties in preschool were associated with the later peer problems and worsened emotional symptoms., Conclusions: Motor skills in preschool children are useful as a predictor of later psychosocial maladaptation and academic achievement., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

Background: We reported a new technique for arthroscopic ligamentoplasty for the thumb carpometacarpal osteoarthritis (CMC-OA) along with a minimum of 2 years of results., Methods: Twenty-nine thumbs with CMC-OA in stages II and III according to the Eaton and Glickel classification, were treated by arthroscopic ligamentoplasty. The procedure included partial trapeziectomy followed by ligamentoplasty similar to the Thompson technique. We evaluated pain VAS; DASH; grip and pinch strength; thumb abduction range of motion, and radiographic examination preoperatively and every 3 months until 1 year after surgery, and every 6 months thereafter. The mean duration of the follow-up was 3.2 years with a range of 2.0-6.0 years., Results: Pain, VAS, and DASH were significantly improved at 3 months after surgery than those preoperatively. Further, the strength of grip, tip, and key pinch significantly increased at 9, 9, and 12 months after surgery, respectively. Additionally, these improvements were maintained until the final follow-up. The range of motion tended to decrease in both palmar and radial abduction, although the differences were not significant. Radiographic examination after surgery showed that the ratio of trapezial space was significantly reduced because of surgical excision of the trapezium. However, there were no significant differences in the results between each follow-up time and the final follow-up. Moreover, the ratio of subluxation on the plain X-ray was significantly improved and maintained until the final follow-up. The parameters of clinical and radiographic outcomes, except motion, were significantly improved, even in patients with including those in stage III and with greater than 1/3 subluxation of the 1st metacarpal base on plain radiography., Conclusion: Arthroscopic ligamentoplasty was effective for pain relief and improvement of grip and pinch strength for the patients with symptomatic CMC-OA., Level of Evidence: Therapeutic study/Level IV., (Copyright © 2019 The Japanese Orthopaedic Association. Published by Elsevier B.V. All rights reserved.)

Background: Sensory processing difficulties, which commonly occur in autism spectrum disorder (ASD), are expected to have negative effects on the primary caregiver's mental health. The aim of this study was to examine the association between sensory processing difficulties in children with ASD and the mental health of primary caregivers., Methods: A total of 707 primary caregivers (mothers in the present study) and their children with ASD (4-18 years of age) participated in this study. Sensory processing difficulties were indexed using the Short Sensory Profile (SSP). The mental health of primary caregivers was indexed using the General Health Questionnaire (GHQ12)., Results: Higher scores on Auditory Filtering as measured with the SSP were associated with poorer mental health of primary caregivers, even after an adjustment for ASD symptom severity. Analyses of two age sub-groups, a young (4-10 years) and an old age group (11-18 years), revealed that higher scores on Tactile Sensitivity and Auditory Filtering were associated with poorer mental health of primary caregivers in younger children, whereas only higher scores on Auditory Filtering were associated with poorer mental health of primary caregivers in older children., Conclusions: Our findings suggest that practitioners who support primary caregivers of children with ASD need to focus not only on the social and communication-related symptoms of the child but also on their specific sensory processing difficulties., (Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

Several studies have revealed that neuregulins (NRGs) are involved in brain function and psychiatric disorders. While NRGs have been regarded as neuron- or astrocyte-derived molecules, our research has revealed that microglia also express NRGs, levels of which are markedly increased in activated microglia. Previous studies have indicated that microglia are activated in the brains of individuals with autism spectrum disorder (ASD). Therefore, we investigated microglial NRG mRNA expression in multiple lines of mice considered models of ASD. Intriguingly, microglial NRG expression significantly increased in BTBR and socially-isolated mice, while maternal immune activation (MIA) mice exhibited identical NRG expression to controls. Furthermore, we observed a positive correlation between NRG expression in microglia and peripheral blood mononuclear cells (PBMCs) in mice, suggesting that NRG expression in human PBMCs may mirror microglia-derived NRG expression in the human brain. To translate these findings for application in clinical psychiatry, we measured levels of NRG1 splice-variant expression in clinically available PBMCs of patients with ASD. Levels of NRG1 type III expression in PBMCs were positively correlated with impairments in social interaction in children with ASD (as assessed using the Autistic Diagnostic Interview-Revised test: ADI-R). These findings suggest that immune cell-derived NRGs may be implicated in the pathobiology of psychiatric disorders such as ASD., (Copyright © 2017 Elsevier Inc. All rights reserved.)

MET receptor tyrosine kinase (MET)-mediated signaling has been implicated in multiple aspects of neocortical and cerebellar neuronal growth and maturation. A promoter functional SNP (rs1858830) that disrupts the transcription of MET has been reported to be strongly associated with autism spectrum disorders (ASD) in the Caucasian population. Here, we performed a trio association study of MET with ASD in Japanese subjects (n=126 trios). Based on the HapMap data on the Japanese population, 15 SNPs were chosen for the association study. One SNP located in intron 1, rs38841, showed a nominal association with autism (p=0.044; OR=1.61) when analyzed using the transmission disequilibrium test. To the best of our knowledge, this is the first replication study of the association of MET with autism, in any non-Caucasian population. Association of rs38841 with autism was further confirmed in 252 Caucasian trios from AGRE (p=0.0006). An interesting observation is that all three SNPs of MET (rs1858830, rs38845 and rs38841) shown to be associated with autism in three independent studies including the present one, are located towards the 5'end of the gene at a span of 9.4 kb. Our results provide further evidence for a possible role of MET in the pathogenesis of ASD., (2010 Elsevier Ireland Ltd and the Japan Neuroscience Society. All rights reserved.)

The neurobiological basis of autism spectrum disorder (ASD) remains poorly understood. Given the role of CD38 in social recognition through oxytocin (OT) release, we hypothesized that CD38 may play a role in the etiology of ASD. Here, we first examined the immunohistochemical expression of CD38 in the hypothalamus of post-mortem brains of non-ASD subjects and found that CD38 was colocalized with OT in secretory neurons. In studies of the association between CD38 and autism, we analyzed 10 single nucleotide polymorphisms (SNPs) and mutations of CD38 by re-sequencing DNAs mainly from a case-control study in Japan, and Caucasian cases mainly recruited to the Autism Genetic Resource Exchange (AGRE). The SNPs of CD38, rs6449197 (p<0.040) and rs3796863 (p<0.005) showed significant associations with a subset of ASD (IQ>70; designated as high-functioning autism (HFA)) in the U.S. 104 AGRE family trios, but not with Japanese 188 HFA subjects. A mutation that caused tryptophan to replace arginine at amino acid residue 140 (R140W; (rs1800561, 4693C>T)) was found in 0.6-4.6% of the Japanese population and was associated with ASD in the smaller case-control study. The SNP was clustered in pedigrees in which the fathers and brothers of T-allele-carrier probands had ASD or ASD traits. In this cohort OT plasma levels were lower in subjects with the T allele than in those without. One proband with the T allele who was taking nasal OT spray showed relief of symptoms. The two variant CD38 poloymorphysms tested may be of interest with regard of the pathophysiology of ASD.

Background: Accumulating evidence suggests that the immune system plays a role in the pathophysiology of autism, and that the adhesion molecules play an important role in the process of inflammation. This study was undertaken to determine whether serum levels of the adhesion molecules in subjects with high-functioning autism are altered as compared with those of normal controls., Methods: Seventeen male subjects with high-functioning autism and 22 male age-matched unrelated healthy control subjects were enrolled. Serum levels of the soluble forms of platelet-endothelial adhesion molecule (PECAM-1), intracellular adhesion molecule (ICAM-1), and vascular cell adhesion molecule (VCAM-1) were measured., Results: Levels of PECAM-1, but not ICAM-1, in the subjects with autism were significantly lower than those of control subjects. VCAM-1 showed a weak trend for a lowered level. There was a negative correlation between serum levels of PECAM-1 and head circumference at birth in the autistic subjects., Conclusions: These results suggest that PECAM-1 plays a role in the pathophysiology of high-functioning autism.

Autism is a pervasive neurodevelopmental disorder diagnosed in early childhood. Growth factors have been found to play a key role in the cellular differentiation and proliferation of the central and peripheral nervous systems. Epidermal growth factor (EGF) is detected in several regions of the developing and adult brain, where, it enhances the differentiation, maturation, and survival of a variety of neurons. Transforming growth factor-beta (TGFbeta) isoforms play an important role in neuronal survival, and the hepatocyte growth factor (HGF) has been shown to exhibit neurotrophic activity. We examined the association of EGF, TGFbeta1, and HGF genes with autism, in a trio association study, using DNA samples from families recruited to the Autism Genetic Resource Exchange; 252 trios with a male offspring scored for autism were selected for the study. Transmission disequilibrium test revealed significant haplotypic association of EGF with autism. No significant SNP or haplotypic associations were observed for TGFbeta1 or HGF. Given the role of EGF in brain and neuronal development, we suggest a possible role of EGF in the pathogenesis of autism.

Background: The neurobiological basis for autism remains poorly understood. Given the role of growth factors in brain development, we hypothesized that epidermal growth factor (EGF) may play a role in the pathophysiology of autism. In this study, we examined whether serum levels of EGF are altered in adult subjects with high-functioning autism., Methods: We measured serum levels of EGF in the 17 male subjects with high-functioning autism and 18 age-matched healthy male subjects., Results: The serum levels of EGF in the subjects with high-functioning autism (72.4 +/- 102.8 pg/mL [mean +/- SD]) were significantly lower (Mann-Whitney U = 22.0, p < .001) than those of normal control subjects (322.3 +/- 122.0 pg/mL [mean +/- SD]). However, there were no correlations between serum EGF levels and clinical variables in the subjects with autism., Conclusions: This study suggests that decreased levels of EGF might be implicated in the pathophysiology of high-functioning autism.

Autism is a severe neurodevelopmental disorder defined by social and communication deficits and ritualistic-repetitive behaviors that are detectable in early childhood. Brain-derived neurotrophic factor (BDNF) plays a critical role in the pathogenesis of autism. In this study, we examined the SNP- and haplotypic-association of BDNF with autism in a trios-based association study (the Autism Genetic Resource Exchange). We also examined the expression of BDNF mRNA in the peripheral blood lymphocytes of drug-naïve autism patients and control subjects. In the TDT of autism trios, the SNP haplotype combinations showed significant associations in the autism group. BDNF expression in the drug-naïve autistic group was found to be significantly higher than in the control group. We suggest that BDNF has a possible role in the pathogenesis of autism through its neurotrophic effects on the serotonergic system.

We report 4 cases of a congenitally stiff metacarpophalangeal joint of the small finger that were treated satisfactorily with surgical release.

An unusual case of irreducible volar metacarpophalangeal (MCP) joint subluxation of the thumb is described. The tendon of the extensor pollicis longus (EPL) was trapped palmar to the metacarpal head and open reduction was necessary.

The aim of the present study was to evaluate messenger RNA expression of c-met, a hepatocyte growth factor receptor gene, after gastric mucosal injury in rats. Male Sprague-Dawley rats were fasted for 24 hours, received 0.6 N hydrochloric acid (HCl), and served for polyadenylated RNA extraction from the oxyntic gastric mucosa. The transcripts of rat c-met gene were analyzed by reverse-transcript polymerase chain reaction and Northern blotting. Although it was detected even before the HCl administration, the c-met expression increased 6, 24 and 48 hours after the HCl administration. Thereafter, gastric mucosal injury diminished and the c-met expression declined. Hepatocyte growth factor reportedly plays an important role in gastric cell proliferation. The increased c-met expression indicates that this gene may participate in the healing process of gastric mucosa after injury.