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Background Williams syndrome (WS) is a neurodevelopmental disorder that has been attributed to heterozygous deletions in chromosome 7q11.23 and exhibits a variety of physical, cognitive, and behavioral features. However, the genetic basis of this phenotypic variability is unclear. In this study, we identified genetic clues underlying these complex phenotypes. Methods Neurobehavioral function was assessed in WS patients and healthy controls. Total RNA was extracted from peripheral blood and subjected to microarray analysis, RNA‐sequencing, and qRT‐PCR. Weighted gene co‐expression network analysis was performed to identify specific alterations related to intermediate disease phenotypes. To functionally interpret each WS‐related module, gene ontology and disease‐related gene enrichment were examined. We also investigated the micro (mi)RNA expression profiles and miRNA co‐expression networks to better explain the regulation of the transcriptome in WS. Results Our analysis identified four significant co‐expression modules related to intermediate WS phenotypes. Notably, the three upregulated WS‐related modules were composed exclusively of genes located outside the 7q11.23 region. They were significantly enriched in genes related to B‐cell activation, RNA processing, and RNA transport. BCL11A, which is known for its association with speech disorders and intellectual disabilities, was identified as one of the hub genes in the top WS‐related module. Finally, these key upregulated mRNA co‐expression modules appear to be inversely correlated with a specific downregulated WS‐related miRNA co‐expression module. Conclusions Dysregulation of the mRNA/miRNA network involving genes outside of the 7q11.23 region is likely related to the complex phenotypes observed in WS patients.

Objective/Background: Many children with autism spectrum disorders (ASDs) have sensory processing disorders (SPDs), which may limit many facets of daily life, including social interaction, an important domain of occupational therapy. Therefore, we examined the relationship between social interaction deficits and SPD in 4e6-year-old children with ASD without intellectual disorders. Methods: The Social Responsiveness Scale (SRS) and the Japanese Sensory Inventory-Revised (JSI-R) questionnaires were administered to parents of children with ASD and children in the control group (n Z 42 each). Results: Response analyses revealed significant intergroup differences in scores for the questionnaires, with more atypical sensory processing patterns and social interaction deficits observed in children with ASD. Significant correlations were observed between the SRS total raw scores and subcategory scores of all sensory modalities of the JSI-R in the entire experimental group. The SPD symptoms were significantly associated with social interaction deficits in children with ASD. Conclusion: It is important that occupational therapists consider SPD symptoms in children with ASD to provide early intervention for social interaction deficits.

PurposeOxaliplatin, an important chemotherapeutic agent in colorectal cancer, causes chemotherapy-induced peripheral neuropathy (CIPN), for which prophylactic or therapeutic interventions are lacking. We aimed to investigate changes in upper extremities, activities of daily living (ADL), and health-related quality of life (HRQoL) parameters after the first chemotherapy cycle.MethodsThirty-eight colorectal cancer patients scheduled to receive the leucovorin, 5′-fluorouracil, oxaliplatin (FOLFOX) therapy or the capecitabine, oxaliplatin (CAPOX) therapy, participated. Patients underwent objective assessment of sensory function, muscular strength, and manual dexterity and answered the European Organization for the Research and Treatment of Cancer Quality of Life Questionnaire C30 (EORTC QLQ-C30) and the Disabilities of the Arm, Shoulder, and Hand-Disability/Symptom (DASH-DS) questionnaires for subjective assessment. The CIPN was assessed at baseline and prior to the second drug cycle.ResultsLight touch sensation in both hands worsened significantly after the first drug cycle, though no significant changes were observed in muscular strength and manual dexterity. The QLQ-C30 analysis showed that Physical Functioning, Role Functioning, Nausea and Vomiting, and Dyspnea were significantly worse, whereas Emotional Functioning was improved. The DASH-DS analysis revealed significant worsening of dysfunction and subjective symptoms.ConclusionsOur results suggest that light touch sensation may worsen even in the absence of multiple chemotherapy cycles. Even if arm and hand function (muscular strength and manual dexterity) is apparently intact, patients may experience dysfunction and decreased HRQoL. For preserving or improving patients’ ADL and HRQoL, it is imperative to provide support at chemotherapy initiation.

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