Autism is a group of etiology and clinical heterogeneous neurodevelopmental disorders with an onset before 3 years old. It has 3 core characteristics: deficits in verbal communication; impairment of social interaction; restricted interests and repetitive behaviors. The incidence is increasing over time worldwide. Twin and family studies have demonstrated that autism has a high heritability (>90%). Although certain progress of autism genetic study has been made in the last decades and several autism susceptibility genes and loci have been identified, there are still about 70%-80% of patients for whom an autism-related genetic change cannot be identified.
Autistic Disorder ; genetics ; Child, Preschool ; Epigenomics ; Genetic Heterogeneity ; Humans ; Infant

Objective To investigate the effect of passive exercise on neural functional recovery after peripheral nerve crushed injury.MethodsThe effect of passive exercise on early peripheral nerve regeneration and recovery of motor function were observed with electrophysiological and histological indexes compared with that of the splinting group.ResultsThe nerve conduction of training group was faster than that in the splinting group,and the latency of compound muscle action potentials(CMAP)was shorter(P<0.05).The thickness of myelin sheath,average numbers of myelinated nerve fibera per area and diameter of regenerating axon in training group were larger than those in the splinting group(P<0.05).The wet weight of sural triceps of training group were bigger than that of the splinting group(P<0.01).ConclusionThe passive exercise can improve the early recovery of motor function and neural regeneration after peripheral nerve crushed injury.

OBJECTIVETo study pantothenate kinase 2 (PANK2) gene mutations in Chinese patients with Hallervorden-Spatz syndrome (HSS).

METHODSPANK2 gene mutations were detected by PCR, DNA sequence analyses, restriction enzyme digestion and PCR-single strand conformation polymorphism in 5 patients, 3 unaffected family members and 51 unrelated healthy persons.

RESULTSNovel compound heterozygous PANK2 gene mutations, A803G and T1172A, in exons 3 and 5, respectively, were found in one patient. At the same time, 3 types of single nucleotide polymorphisms, -38 t>a in 5'-UTR, IVS1+42 c>a and G77C in exon 1, were confirmed; among them, -38 t>a, IVS1+42 c>a, were first reported.

CONCLUSIONPANK2 gene mutations can cause HSS in Chinese patients.

Adolescent ; Adult ; Base Sequence ; Child ; China ; DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Pantothenate Kinase-Associated Neurodegeneration ; genetics ; Pedigree ; Phosphotransferases (Alcohol Group Acceptor) ; genetics ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Young Adult

ObjectiveTo explore the impact of e-sports activities on adolescents' health based on International Classification of Functioning, Disability and Health (ICF), and conduct a systematic review of health condition and functioning, interventions and outcomes. MethodsThe ICF was used to systematically analyze the physical and mental health and functional impact of adolescents engaging in e-sports activities. Using the keywords and subject heading search method, articles about e-sports, health condition, functioning, functional rehabilitation (intervention) and outcome were searched in CNKI, VIP, Wanfang Database, PubMed, Web of Science and EBSCO from establishment to February, 2022. Systematic review had been adopted for literatures scanning, selection, quality review, and literature synthesis. ICF framework and WHO-FICs coding system were used to analyze the literatures in the fields of e-sport participants' main health condition and health-related conditions, functioning, interventions, and outcomes (health conditions and functioning). Results and ConclusionEight literatures from six countries had been finally included, mainly in the fields of clinical medicine, rehabilitation sciences, sports psychology and rehabilitation psychology. The literatures published mainly after 2015. The average scores on Physiotherapy Evidence Database (PEDro) were 6.88. Using ICF framework, adolescent e-sport participants had main health conditions and functioning at the levels of body, activity and participation, and environment. At body level, the health conditions and functioning involved in the fields of mental function, sensory function and pain, neuromusculoskeletal and motor-related functions, mainly manifested impairments or disorders such as cognitive impairment, emotional disturbance, fatigue, sleep disturbance, depression and anxiety, obesity and musculoskeletal pain. At the individual level, main health conditions and functioning included healthy behaviors (such as sedentary behaviors, insufficient physical activity), diet and malnutrition, and other healthy behaviors. At the level of environment, main factors included support and personal relation, attitudes, services, institutional and policy performance. There were two categories of interventions: interventions at body level, such as physical intervention, psychological intervention; and intervention at activity and participation level, such as social intervention, cognitive-behaviors intervention, social media and moderate-to-high-intensity physical activity. Adolescent participants can get health benefits from interventions in the six dimensions of WHODAS2.0 of cognition, mobility, self-care, getting along with others, life activities, participation and health impact, and specifically manifested improvement in the fields of emotional and cognitive conditions, daily physical activity level, rapidly increasing from light to moderate physical activity; interruption sedentary, increasing in physical activity; enhancement of social relations, accessing to social support; and forming healthy living habits and improving the quality of life and well-being.

ObjectiveTo review the effects of video game intervention on adults motor functioning based on International Classification of Diseases, Eleventh Revision (ICD-11) and International Classification of Functioning, Disability and Health (ICF). MethodsThe literatures about video game therapy and motor dysfunction were retrieved from databases of CNKI, PubMed, Web of Science, and EBSCO, from establishment to June, 2022. The contents of the literatures were analyzed and encoded based on the conceptual framework and coding of ICD-11 and ICF. ResultsSeven articles were included, which were from six countries, involving 59 randomized controlled trials and 2 648 participants, aged 19.8 to 75.4 years, mainly from the fields of medicine, rehabilitation science, video games, exercise interventions and sports science, with publication dates mainly from 2015 to 2021. The intervention types were mainly classified as simple video game, and combination of video game and exercise intervention. The ways of intervention were human-computer interaction, perceptual motor and augmented reality. The intervention scenes were in scene and presentation scene, while the former involved a rehabilitation institution and family environment, and the latter involved a virtual scene and a physical scene. The frequency of interventions was mainly one to five times a week, 20 to 60 minutes a time, for four to 24 weeks. The outcomes of the intervention mainly involved the promoting the recovery of function of joint and bone, improving the static and dynamic balance of gait, increasing muscle strength, improving self-efficacy, reducing anxiety; improving posture control, providing feedback on daily activities; promoting social interaction, increasing social interaction and communication behavior, etc. ConclusionThere are two types of video game interventions: video game alone and video game combined with motor intervention. The video game intervention combines video game and motor intervention through the interaction of virtual sceneries, dynamic activity demonstration and the presentation and feedback of activity goals, to enhance the effectiveness and efficiency of the intervention and improves patients' interest in motor learning. The intervention can be divided into human-computer interaction, perceptual motor and augmented reality. The outcomes of the intervention can be reflected in three aspects: improvement of physical function, promotion of activity and participation, and enhancement of overall function and quality of life.