Children with autism are commonly affected by gastrointestinal problems such as abdominal pain, constipation and diarrhea. In recent years, there has been a growing interest in the use of probiotics in this population...Children with autism are commonly affected by gastrointestinal problems such as abdominal pain, constipation and diarrhea. In recent years, there has been a growing interest in the use of probiotics in this population, as it hypothetically may help to improve bowel habits and the behavioral and social functioning of these individuals. The gut microbiome plays an important role in the pathophysiology of organic as well as functional gastrointestinal disorders. Microbial modification with the use of antibiotics, probiotics, and fecal transplantation have been effective in the treatment of conditions such as recurrent Clostridium difficile infection, pouchitis, and irritable bowel syndrome. The present review presents a number of reported clinical, immunological and microbiomerelated changes seen in children with autism compared to normally developed children. It also discusses gut inflammation, permeability concerns, and absorption abnormalities that may contribute to these problems. Most importantly, it discusses evidence, from human and animal studies, of a potential role of probiotics in the treatment of gastrointestinal symptoms in children with autism.展开更多
Purpose: The purpose of this study was to propose and test a conceptual model that explains the interrelationships among perceived social support, loneliness, physical activity(PA), and quality of life(QoL) among acti...Purpose: The purpose of this study was to propose and test a conceptual model that explains the interrelationships among perceived social support, loneliness, physical activity(PA), and quality of life(QoL) among active older adults in South Korea.Methods: Data were collected from 332 individuals over the age of 65 using a systematic stratified convenience sampling method. Survey data were collected and analyzed using a structural equation model(SEM).Results: Perceived social support had a significantly positive effect on PA(b = 0.14, p < 0.01) and QoL(b = 0.28, p < 0.001) while decreasing loneliness(b = —0.55, p < 0.001). PA had a significant positive effect on QoL(b = 0.12, p < 0.01), and loneliness had a negative effect on QoL(b = —0.37, p < 0.001). Loneliness mediated the relationship between perceived social support and QoL.Conclusion: The SEM results of the current study support the proposed model that explained the interrelationships among perceived social support, loneliness, PA, and QoL among active older adults in South Korea. These findings suggest the importance of incorporating social support mechanisms for PA interventions in order to enhance QoL. The findings of this study can help create more effective health and physical education programs for the older generations in South Korea to enhance their QoL.展开更多
Objective: To observe the effect of acupuncture on images in autism children. Methods; A total of 27 cases of autism children were subjected into this study. By using a SPECT, the cerebral images were collected before...Objective: To observe the effect of acupuncture on images in autism children. Methods; A total of 27 cases of autism children were subjected into this study. By using a SPECT, the cerebral images were collected before and after acupuncture treatment and analyzed according to the recommended methods in 《Clinical Nuclear Medicine》 for assessing the state of blood flow, radioactivity quantity distribution and radioactivity count in bilateral hemispheres. 'JIN's three-needling' was employed. The acupuncture treatment was given once every other day, with 4 months being a therapeutic course and an interval of one month between two courses. Results: After acupuncture treatment, of the 22 cases, 20 had remarkable improvement and 2 had improvement in cerebral blood flow, with the total effective rate being 90.8%. Before the treatment there were significant differences between the left and right cerebrum (P<0. 001), and between the left and right frontal lobes in radioactive areas (P<0.01); however, after treatment, no differences were found between them (P>0.05). After treatment, the radioactivity count in the whole brain decreased significantly in comparison with that of pretreatment (P<0.01). It indicates the improvement of cerebral blood flow and cellular metabolism after the treatment. Conclusion: Acupuncture can significantly improve cerebral blood flow in autism children.展开更多
Abstract The conflicts between rurality and urbanization,tradition and modernity,industry and environmental resource in the rural tourism have become major difficulties of its sustainable development in China.This pap...Abstract The conflicts between rurality and urbanization,tradition and modernity,industry and environmental resource in the rural tourism have become major difficulties of its sustainable development in China.This paper analyzed the characteristics and difficult situations of metropolitan suburban rural tourism,put forward four kinds of region-city functions in the development of metropolitan suburban rural tourism,and researched on the construction of rural tourism scenic areas in metropolis suburb—"to Withstand Loneliness in the Process of Urbanization"—as the following aspects:the space organization mode,localization,social organization and management,the product organization and spatial planning modes and contents.展开更多
Objective : Evaluate the application values of ^99mTc-2 β [ N, N'-bis ( 2-mercaptoethyl ) ethylenediamiino ] methyl, 3 β -(4-chlorophenyl) tropane ( TRODAT-1 ) dopamine transporter (DAT) SPECT imaging in c...Objective : Evaluate the application values of ^99mTc-2 β [ N, N'-bis ( 2-mercaptoethyl ) ethylenediamiino ] methyl, 3 β -(4-chlorophenyl) tropane ( TRODAT-1 ) dopamine transporter (DAT) SPECT imaging in children autism, and offer the academic foundation to etiology, mechanism and clinical therapy of autism. Methods:Ten autistic children and ten healthy controls were examined with ^99mTc-TRODAT-1 DAT SPECT imaging. Striatal specific uptake of ^99mTc-TRODAT-1 was calculated with region of interest analysis according to the ratios between striaturn and cerebellum [ ( STR-BKG)/BKG ]. Results : There was no difference in semiquantitative dopamine transporter between bilateral striatum in autistic children ( P = 0. 562) and in normal controls ( P = 0. 573 ) ; dopamine transporter in brain of patients with autism increased more significantly than that in normal controls ( P = 0. 017). Conclusion : Dopaminergic nervous system is dysfunction in human brain with children autism, and DAT ^99mTc-TRODAT-1 SPECT imaging on human brain will help the imaging diagnosis of children autism.展开更多
Objective: To observe the clinical efficacy of needling thirteen ghost acupoints for children with autism spectrum disorder. Methods: A total of 90 cases with autism spectrum disorder (ASD) aged between 2 and 6 ye...Objective: To observe the clinical efficacy of needling thirteen ghost acupoints for children with autism spectrum disorder. Methods: A total of 90 cases with autism spectrum disorder (ASD) aged between 2 and 6 years were randomly allocated into 2 groups by random number table. The control group (n=45) received routine rehabilitative training, and the treatment group (n=45) received acupuncture at thirteen ghost acupoints plus routine rehabilitative training. The Beijing Gesell developmental (Gesell) scale and autism behavior checklist (ABC) were used to assess the intellectual, language and behavior development before and 3 months after the treatment. Results: After the treatment, the total effective rate in the treatment group was 82.2%, versus 55.6% in the control group, showing a statistical significance (P〈0.05). As for the scores of social, emotional and language in Gesell scale, there were significant intra-group differences in the treatment group (all P〈0.05), and all the five subscales in the Gesell scale in the treatment group were significantly better than those in the control group (all P〈0.05). As for the scores of ABC, there were significant intra-group differences in the treatment group (P〈0.05), and the scores in the treatment group were significantly better than those in the control group (all P〈0.05). Conclusion: Rehabilitation training plus acupuncture at thirteen ghost acupoints can significantly improve the intellectual, language and abnormal behavior in autism spectrum disorder children.展开更多
Autism spectrum disorder(ASD) is a spectral neurodevelopment disorder affecting approximately 1% of the population. ASD is characterized by impairments in reciprocal social interaction, communication deficits and rest...Autism spectrum disorder(ASD) is a spectral neurodevelopment disorder affecting approximately 1% of the population. ASD is characterized by impairments in reciprocal social interaction, communication deficits and restricted patterns of behavior. Multiple factors, including genetic/genomic, epigenetic/epigenomic and environmental, are thought to be necessary for autism development. Recent reviews have provided further insight into the genetic/genomic basis of ASD. It has long been suspected that epigenetic mechanisms, including DNA methylation, chromatin structures and long non-coding RNAs may play important roles in the pathology of ASD. In addition to genetic/genomic alterations and epigenetic/epigenomic influences, environmental exposures have been widely accepted as an important role in autism etiology, among which immune dysregulation and gastrointestinal microbiota are two prominent ones.展开更多
Autism spectrum disorders(ASD) are a pervasive neurodevelopmental disease characterized by deficits in social interaction and nonverbal communication, as well as restricted interests and stereotypical behavior. Geneti...Autism spectrum disorders(ASD) are a pervasive neurodevelopmental disease characterized by deficits in social interaction and nonverbal communication, as well as restricted interests and stereotypical behavior. Genetic changes/heritability is one of the major contributing factors, and hundreds to thousands of causative and susceptible genes, copy number variants(CNVs), linkage regions, and micro RNAs have been associated with ASD which clearly indicates that ASD is a complex genetic disorder. Here, we will briefly summarize some of the high-confidence genetic changes in ASD and their possible roles in their pathogenesis.展开更多
With the current limited drug therapy for the core symptoms of autism spectrum disorder(ASD),we herein report a randomized,double-blind,placebo-controlled trial to investigate the efficacy,safety,and potential neural ...With the current limited drug therapy for the core symptoms of autism spectrum disorder(ASD),we herein report a randomized,double-blind,placebo-controlled trial to investigate the efficacy,safety,and potential neural mechanism of bumetanide in children with ASD aged 3-6 years old.A total of 120 children were enrolled into the study and randomly assigned to either 0.5 mg bumetanide or placebo.In the final sample,119 children received at least one dose of bumetanide(59 children) or placebo(60 children) were included in the final analysis.The primary outcome was a reduction in the Childhood Autism Rating Scale(CARS) score,and the secondary outcomes were the Clinical Global Impressions Scale(CGI)-Global Improvement(CGI-I) score at 3 months and the change from baseline to 3-month in the Autism Diagnostic Observation Schedule(ADOS).Magnetic resonance spectroscopy(MRS) was used to measure y-aminobutyric acid(GABA) and glutamate neurotransmitter concentrations in the insular cortex(IC) before and after the treatment.As compared with the placebo,bumetanide treatment was significantly better in reducing the severity.No patient withdrew from the trial due to adverse events.The superiority of bumetanide to placebo in reducing insular GABA,measured using MRS,was demonstrated.The clinical improvement was associated with a decrease in insular GABA in the bumetanide group.In conclusion,this trial in a large group of young children with predominantly moderate and severe ASD demonstrated that bumetanide is safe and effective in improving the core symptoms of ASD.However,the clinical significance remains uncertain,and future multi-center clinical trials are required to replicate these findings and confirm the clinical significance using a variety of outcome measures.展开更多
We examined parenting stress and mental health status in parents of autistic children and assessed factors associated with such stress. Participants were parents of 188 autistic children diagnosed with DSM-IV criteria...We examined parenting stress and mental health status in parents of autistic children and assessed factors associated with such stress. Participants were parents of 188 autistic children diagnosed with DSM-IV criteria and parents of 144 normally developing children. Parents of autistic children reported higher levels of stress, depression, and anxiety than parents of normally developing children. Mothers of autistic children had a higher risk of depression and anxiety than that did parents of normally developing children. Mothers compared to fathers of autistic children were more vulnerable to depression. Age, behavior problems of autistic children, and mothers' anxiety were significantly associated with parenting stress.展开更多
Autism spectrum disorder(ASD) is diagnosed on the basis of core impairments in pragmatic language skills, which are found across all ages and subtypes. In contrast, there is significant heterogeneity in language pheno...Autism spectrum disorder(ASD) is diagnosed on the basis of core impairments in pragmatic language skills, which are found across all ages and subtypes. In contrast, there is significant heterogeneity in language phenotypes, ranging from nonverbal to superior linguistic abilities, as defined on standardized tests of vocabulary and grammatical knowledge. The majority of children are verbal but impaired in language, relative to age-matched peers. One hypothesis is that this subgroup has ASD and co-morbid specific language impairment(SLI). An experiment was conducted comparing children with ASD to children with SLI and typically developing controls on aspects of language processing that have been shown to be impaired in children with SLI: repetition of nonsense words. Patterns of performance among the children with ASD and language impairment were similar to those with SLI, and contrasted with the children with ASD and no language impairment and typical controls, providing further evidence for the hypothesis that a subgroup of children with ASD has co-morbid SLI. The findings are discussed in the context of brain imaging studies that have explored the neural bases of language impairment in ASD and SLI, and overlap in the genes associated with elevated risk for these disorders.展开更多
Objective: A study in a Caucasian population has identified two single-nucleotide polymorphisms (SNPs) in ZNF533, one in DOCK4, and two in IMMP2L, which were all significantly associated with autism. They are locat...Objective: A study in a Caucasian population has identified two single-nucleotide polymorphisms (SNPs) in ZNF533, one in DOCK4, and two in IMMP2L, which were all significantly associated with autism. They are located in AUTS1 and AUTS5, which have been identified as autism susceptibility loci in several genome-wide screens. The present study aimed to investigate whether ZNF533, DOCK4, and IMMP2L genes are also associated with autism in a northeastern Chinese Han population. Methods: We performed a similar association study using families with three individuals (one autistic child and two unaffected parents). A family-based transmission disequilibrium test (TDT) was used to analyze the results. Results: There were significant associations between autism and the two SNPs of ZNF533 gene (rs11885327: X^2=4.5200, P=0.0335; rs1964081 :)(2=4.2610, P=0.0390) and the SNP of DOCK4 gene (rs2217262 X^2=5.3430, P=0.0208). Conclusions: Our data suggest that ZNF533 and DOCK4 genes are linked to a predisposition to autism in the northeastern Chinese Han population.展开更多
Autism is a complex neuropsychiatric disorder of developmental origin, where multiple genetic and environmental factors likely interact resulting in a clinical continuum between "affected" and "unaffect...Autism is a complex neuropsychiatric disorder of developmental origin, where multiple genetic and environmental factors likely interact resulting in a clinical continuum between "affected" and "unaffected" individuals in the general population. During the last two decades, relevant progress has been made in identifying chromosomal regions and genes in linkage or association with autism, but no single gene has emerged as a major cause of disease in a large number of patients. The purpose of this paper is to discuss specific methodological issues and experimental strategies in autism genetic research, based on fourteen years of experience in patient recruitment and association studies of autism spectrum disorder in Italy.展开更多
文摘Children with autism are commonly affected by gastrointestinal problems such as abdominal pain, constipation and diarrhea. In recent years, there has been a growing interest in the use of probiotics in this population, as it hypothetically may help to improve bowel habits and the behavioral and social functioning of these individuals. The gut microbiome plays an important role in the pathophysiology of organic as well as functional gastrointestinal disorders. Microbial modification with the use of antibiotics, probiotics, and fecal transplantation have been effective in the treatment of conditions such as recurrent Clostridium difficile infection, pouchitis, and irritable bowel syndrome. The present review presents a number of reported clinical, immunological and microbiomerelated changes seen in children with autism compared to normally developed children. It also discusses gut inflammation, permeability concerns, and absorption abnormalities that may contribute to these problems. Most importantly, it discusses evidence, from human and animal studies, of a potential role of probiotics in the treatment of gastrointestinal symptoms in children with autism.
文摘Purpose: The purpose of this study was to propose and test a conceptual model that explains the interrelationships among perceived social support, loneliness, physical activity(PA), and quality of life(QoL) among active older adults in South Korea.Methods: Data were collected from 332 individuals over the age of 65 using a systematic stratified convenience sampling method. Survey data were collected and analyzed using a structural equation model(SEM).Results: Perceived social support had a significantly positive effect on PA(b = 0.14, p < 0.01) and QoL(b = 0.28, p < 0.001) while decreasing loneliness(b = —0.55, p < 0.001). PA had a significant positive effect on QoL(b = 0.12, p < 0.01), and loneliness had a negative effect on QoL(b = —0.37, p < 0.001). Loneliness mediated the relationship between perceived social support and QoL.Conclusion: The SEM results of the current study support the proposed model that explained the interrelationships among perceived social support, loneliness, PA, and QoL among active older adults in South Korea. These findings suggest the importance of incorporating social support mechanisms for PA interventions in order to enhance QoL. The findings of this study can help create more effective health and physical education programs for the older generations in South Korea to enhance their QoL.
基金This study is subsidized by the State Administration of TCM of China
文摘Objective: To observe the effect of acupuncture on images in autism children. Methods; A total of 27 cases of autism children were subjected into this study. By using a SPECT, the cerebral images were collected before and after acupuncture treatment and analyzed according to the recommended methods in 《Clinical Nuclear Medicine》 for assessing the state of blood flow, radioactivity quantity distribution and radioactivity count in bilateral hemispheres. 'JIN's three-needling' was employed. The acupuncture treatment was given once every other day, with 4 months being a therapeutic course and an interval of one month between two courses. Results: After acupuncture treatment, of the 22 cases, 20 had remarkable improvement and 2 had improvement in cerebral blood flow, with the total effective rate being 90.8%. Before the treatment there were significant differences between the left and right cerebrum (P<0. 001), and between the left and right frontal lobes in radioactive areas (P<0.01); however, after treatment, no differences were found between them (P>0.05). After treatment, the radioactivity count in the whole brain decreased significantly in comparison with that of pretreatment (P<0.01). It indicates the improvement of cerebral blood flow and cellular metabolism after the treatment. Conclusion: Acupuncture can significantly improve cerebral blood flow in autism children.
基金Supported by Humanities and Social Sciences Project of Ministry of Education of China(10YJAZH041)National Social Science Fund Projects of Western China(13XSH017)
文摘Abstract The conflicts between rurality and urbanization,tradition and modernity,industry and environmental resource in the rural tourism have become major difficulties of its sustainable development in China.This paper analyzed the characteristics and difficult situations of metropolitan suburban rural tourism,put forward four kinds of region-city functions in the development of metropolitan suburban rural tourism,and researched on the construction of rural tourism scenic areas in metropolis suburb—"to Withstand Loneliness in the Process of Urbanization"—as the following aspects:the space organization mode,localization,social organization and management,the product organization and spatial planning modes and contents.
文摘Objective : Evaluate the application values of ^99mTc-2 β [ N, N'-bis ( 2-mercaptoethyl ) ethylenediamiino ] methyl, 3 β -(4-chlorophenyl) tropane ( TRODAT-1 ) dopamine transporter (DAT) SPECT imaging in children autism, and offer the academic foundation to etiology, mechanism and clinical therapy of autism. Methods:Ten autistic children and ten healthy controls were examined with ^99mTc-TRODAT-1 DAT SPECT imaging. Striatal specific uptake of ^99mTc-TRODAT-1 was calculated with region of interest analysis according to the ratios between striaturn and cerebellum [ ( STR-BKG)/BKG ]. Results : There was no difference in semiquantitative dopamine transporter between bilateral striatum in autistic children ( P = 0. 562) and in normal controls ( P = 0. 573 ) ; dopamine transporter in brain of patients with autism increased more significantly than that in normal controls ( P = 0. 017). Conclusion : Dopaminergic nervous system is dysfunction in human brain with children autism, and DAT ^99mTc-TRODAT-1 SPECT imaging on human brain will help the imaging diagnosis of children autism.
基金supported by Medical Science and Technology Key Project of Foshan Science and Technology Bureau, No.20151021020043~~
文摘Objective: To observe the clinical efficacy of needling thirteen ghost acupoints for children with autism spectrum disorder. Methods: A total of 90 cases with autism spectrum disorder (ASD) aged between 2 and 6 years were randomly allocated into 2 groups by random number table. The control group (n=45) received routine rehabilitative training, and the treatment group (n=45) received acupuncture at thirteen ghost acupoints plus routine rehabilitative training. The Beijing Gesell developmental (Gesell) scale and autism behavior checklist (ABC) were used to assess the intellectual, language and behavior development before and 3 months after the treatment. Results: After the treatment, the total effective rate in the treatment group was 82.2%, versus 55.6% in the control group, showing a statistical significance (P〈0.05). As for the scores of social, emotional and language in Gesell scale, there were significant intra-group differences in the treatment group (all P〈0.05), and all the five subscales in the Gesell scale in the treatment group were significantly better than those in the control group (all P〈0.05). As for the scores of ABC, there were significant intra-group differences in the treatment group (P〈0.05), and the scores in the treatment group were significantly better than those in the control group (all P〈0.05). Conclusion: Rehabilitation training plus acupuncture at thirteen ghost acupoints can significantly improve the intellectual, language and abnormal behavior in autism spectrum disorder children.
基金supported by grants from the National Basic Research Program of China(973 Program,2010CB529601,2013CB945404)
文摘Autism spectrum disorder(ASD) is a spectral neurodevelopment disorder affecting approximately 1% of the population. ASD is characterized by impairments in reciprocal social interaction, communication deficits and restricted patterns of behavior. Multiple factors, including genetic/genomic, epigenetic/epigenomic and environmental, are thought to be necessary for autism development. Recent reviews have provided further insight into the genetic/genomic basis of ASD. It has long been suspected that epigenetic mechanisms, including DNA methylation, chromatin structures and long non-coding RNAs may play important roles in the pathology of ASD. In addition to genetic/genomic alterations and epigenetic/epigenomic influences, environmental exposures have been widely accepted as an important role in autism etiology, among which immune dysregulation and gastrointestinal microbiota are two prominent ones.
基金supported by National Basic Research Program of China(2011CB809102,2014CB942804,2014BAI03B01,2012YQ0302604)National Natural Science Foundation of China(31222025,31171025)+1 种基金Program for New Century Excellent Talents in University of Ministry of Education of China(ZC)the Project Sponsored by the Scientific Research Foundation for the Returned Overseas Chinese Scholars,State Education Ministry(ZC)
文摘Autism spectrum disorders(ASD) are a pervasive neurodevelopmental disease characterized by deficits in social interaction and nonverbal communication, as well as restricted interests and stereotypical behavior. Genetic changes/heritability is one of the major contributing factors, and hundreds to thousands of causative and susceptible genes, copy number variants(CNVs), linkage regions, and micro RNAs have been associated with ASD which clearly indicates that ASD is a complex genetic disorder. Here, we will briefly summarize some of the high-confidence genetic changes in ASD and their possible roles in their pathogenesis.
基金the Shanghai Municipal Commission of Health and Family Planning(2018BR33,2017EKHWYX-02,and GWV-10.1-XK07)the Shanghai Shenkang Hospital Development Center(16CR2025B)+9 种基金the Shanghai Clinical Key Subject Construction Project(shslczdzk02902)the National Natural Science Foundation of China(81761128035,81930095,81873909,82001771,and 31860306)the Shanghai Committee of Science and Technology(17XD1403200,20ZR1404900,and 19410713500)Xinhua Hospital of Shanghai Jiao Tong University School of Medicine(2018YJRC03)the National Human Genetic Resources Sharing Service Platform(2005DKA21300)the National Key Research and Development Program of China(2018YFC0910503)111 Project(B18015)the Shanghai Municipal Science and Technology Major Project(2018SHZDZX01)Guangdong Key Project in‘‘Development of New Tools for Diagnosis and Treatment of Autism”(2018B030335001)the Science and Technology Department of Yunnan Province(202001AV070010)。
文摘With the current limited drug therapy for the core symptoms of autism spectrum disorder(ASD),we herein report a randomized,double-blind,placebo-controlled trial to investigate the efficacy,safety,and potential neural mechanism of bumetanide in children with ASD aged 3-6 years old.A total of 120 children were enrolled into the study and randomly assigned to either 0.5 mg bumetanide or placebo.In the final sample,119 children received at least one dose of bumetanide(59 children) or placebo(60 children) were included in the final analysis.The primary outcome was a reduction in the Childhood Autism Rating Scale(CARS) score,and the secondary outcomes were the Clinical Global Impressions Scale(CGI)-Global Improvement(CGI-I) score at 3 months and the change from baseline to 3-month in the Autism Diagnostic Observation Schedule(ADOS).Magnetic resonance spectroscopy(MRS) was used to measure y-aminobutyric acid(GABA) and glutamate neurotransmitter concentrations in the insular cortex(IC) before and after the treatment.As compared with the placebo,bumetanide treatment was significantly better in reducing the severity.No patient withdrew from the trial due to adverse events.The superiority of bumetanide to placebo in reducing insular GABA,measured using MRS,was demonstrated.The clinical improvement was associated with a decrease in insular GABA in the bumetanide group.In conclusion,this trial in a large group of young children with predominantly moderate and severe ASD demonstrated that bumetanide is safe and effective in improving the core symptoms of ASD.However,the clinical significance remains uncertain,and future multi-center clinical trials are required to replicate these findings and confirm the clinical significance using a variety of outcome measures.
基金supported by the National Basic Research Program of China(Grant No.2010CB529602)
文摘We examined parenting stress and mental health status in parents of autistic children and assessed factors associated with such stress. Participants were parents of 188 autistic children diagnosed with DSM-IV criteria and parents of 144 normally developing children. Parents of autistic children reported higher levels of stress, depression, and anxiety than parents of normally developing children. Mothers of autistic children had a higher risk of depression and anxiety than that did parents of normally developing children. Mothers compared to fathers of autistic children were more vulnerable to depression. Age, behavior problems of autistic children, and mothers' anxiety were significantly associated with parenting stress.
基金supported by the National Institutes of Health(Grant Nos.U19 DC03610,RO1 DC 10290,and M01 RR00533)
文摘Autism spectrum disorder(ASD) is diagnosed on the basis of core impairments in pragmatic language skills, which are found across all ages and subtypes. In contrast, there is significant heterogeneity in language phenotypes, ranging from nonverbal to superior linguistic abilities, as defined on standardized tests of vocabulary and grammatical knowledge. The majority of children are verbal but impaired in language, relative to age-matched peers. One hypothesis is that this subgroup has ASD and co-morbid specific language impairment(SLI). An experiment was conducted comparing children with ASD to children with SLI and typically developing controls on aspects of language processing that have been shown to be impaired in children with SLI: repetition of nonsense words. Patterns of performance among the children with ASD and language impairment were similar to those with SLI, and contrasted with the children with ASD and no language impairment and typical controls, providing further evidence for the hypothesis that a subgroup of children with ASD has co-morbid SLI. The findings are discussed in the context of brain imaging studies that have explored the neural bases of language impairment in ASD and SLI, and overlap in the genes associated with elevated risk for these disorders.
基金Projcct supported by the National Natural Science Foundation of China (No. 81072315)
文摘Objective: A study in a Caucasian population has identified two single-nucleotide polymorphisms (SNPs) in ZNF533, one in DOCK4, and two in IMMP2L, which were all significantly associated with autism. They are located in AUTS1 and AUTS5, which have been identified as autism susceptibility loci in several genome-wide screens. The present study aimed to investigate whether ZNF533, DOCK4, and IMMP2L genes are also associated with autism in a northeastern Chinese Han population. Methods: We performed a similar association study using families with three individuals (one autistic child and two unaffected parents). A family-based transmission disequilibrium test (TDT) was used to analyze the results. Results: There were significant associations between autism and the two SNPs of ZNF533 gene (rs11885327: X^2=4.5200, P=0.0335; rs1964081 :)(2=4.2610, P=0.0390) and the SNP of DOCK4 gene (rs2217262 X^2=5.3430, P=0.0208). Conclusions: Our data suggest that ZNF533 and DOCK4 genes are linked to a predisposition to autism in the northeastern Chinese Han population.
基金supported by the Italian Ministry for University,Scientific Research and Technologythe Italian Ministry of Health,the Fondazione Giuseppe e Mafalda Luce(Milan,Italy)+3 种基金Autism Aid ONLUS(Naples,Italy)the Autism Speaks Foundation(Princeton,NJ)the Autism Research Institute(San Diego,CA)the European Union(IMI project EU-AIMS)
文摘Autism is a complex neuropsychiatric disorder of developmental origin, where multiple genetic and environmental factors likely interact resulting in a clinical continuum between "affected" and "unaffected" individuals in the general population. During the last two decades, relevant progress has been made in identifying chromosomal regions and genes in linkage or association with autism, but no single gene has emerged as a major cause of disease in a large number of patients. The purpose of this paper is to discuss specific methodological issues and experimental strategies in autism genetic research, based on fourteen years of experience in patient recruitment and association studies of autism spectrum disorder in Italy.