Autism spectrum disorder (ASD) indicates several neurodevelopmental impairments which may end in impairments in motor or physical activities. Daily physical activity involvement was investigated in a total of 83 children (52 boys and 31 girls) with ASD aged 6–15 years. Results indicated that only 10 (12%) of children with ASD were physically active. Children were predominantly engaged in solitary play rather than social play activities. Gender, family income, and household structure were found to be associated with activity scores. Financial burden and lack of opportunities were noted as the leading barriers to physical activities. In conclusion, findings indicated a low rate of physical activity participation in children with ASD that is closely associated with sociodemographic variables.

The Nck-associated protein 1–like (NCKAP1L) gene, alternatively called hematopoietic protein 1 (HEM-1), encodes a hematopoietic lineage–specific regulator of the actin cytoskeleton. Nckap1l-deficient mice have anomalies in lymphocyte development, phagocytosis, and neutrophil migration. Here we report, for the first time, NCKAP1L deficiency cases in humans. In two unrelated patients of Middle Eastern origin, recessive mutations in NCKAP1L abolishing protein expression led to immunodeficiency, lymphoproliferation, and hyperinflammation with features of hemophagocytic lymphohistiocytosis. Immunophenotyping showed an inverted CD4/CD8 ratio with a major shift of both CD4⁺ and CD8⁺ cells toward memory compartments, in line with combined RNA-seq/proteomics analyses revealing a T cell exhaustion signature. Consistent with the core function of NCKAP1L in the reorganization of the actin cytoskeleton, patients’ T cells displayed impaired early activation, immune synapse morphology, and leading edge formation. Moreover, knockdown of nckap1l in zebrafish led to defects in neutrophil migration. Hence, NCKAP1L mutations lead to broad immune dysregulation in humans, which could be classified within actinopathies.

Background/Aim: To determine the association of physical activity and the metabolic syndrome in a large national-representative sample of children. Methods: This study was performed in 2003–2004 on 4,811 school students aged 6–18 years, selected by multi-stage random cluster sampling from six provinces in Iran. We assessed the level of physical activity using a standardized questionnaire, and categorized it to the tertiles. The metabolic syndrome was defined based on criteria analogous to those of the Adult Treatment Panel III. Results: The participants comprised 2,248 boys and 2,563 girls with a mean age of 12.07 ± 3.2 years. In all age groups, boys were more physically active than girls. The metabolic syndrome was detected in 14.1% of participants, and its prevalence was higher in those subjects in the 1st, 2nd and 3rd tertiles of physical activity, respectively (15.1 vs.14.2 and 13.1%, respectively, p <0.05). This difference was seen in boys, while no difference was found between girls in the 2nd and 3rd tertiles of physical activity. Physical activity was linked to a cluster of factors consisting of high-density lipoprotein-cholesterol and waist circumference, followed by triglycerides in boys, and of triglycerides, waist circumference and blood pressure in girls. In both genders, before and after adjustment for age and body mass index, low levels of physical activity significantly increased the risk of having the metabolic syndrome [in boys: OR: 1.8, 95% CI: 1.1, 2.1; and in girls, OR: 1.6 (1.1, 1.9)]. Conclusion: We found an association between physical activity and the metabolic syndrome, which was independent of body mass index and age. Children should be encouraged to have greater physical activity.