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Autism and Mental Retardation of Young Children in China 被引量:4
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作者 XIN ZHANG CHENG-YE JI 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2005年第5期334-340,共7页
To understand the prevalence and rehabilitation status of autism and mental retardation in China. Methods Screening test and clinical assessment were conducted for the diagnosis of autism and mental retardation. The a... To understand the prevalence and rehabilitation status of autism and mental retardation in China. Methods Screening test and clinical assessment were conducted for the diagnosis of autism and mental retardation. The assessment included investigation of the histories of medical conditions and development of these two disorders, utilization and needs for the rehabilitation service, and related intellectual and behavioral appraisal. Results Among the 7345 children investigated, the prevalence of autism disorder was 1.10 cases per 1000 children aged 2-6 years (95% CI=0.34 to 2.54), and the prevalence of mental retardation was 10.76 cases per 1000 children (95% CI=8.40 to 13.12). All the children suffering from autistic disorder were intellectually disabled, whereas 31.0% of the non-autism mental retardates had other disabilities. The medical conditions prior to birth and perinatal period were important potential factors for autism. Half of the autistic children and 84% of the children with non-autism mental retardation had never received any rehabilitative service. Conclusions The prevalence of autistic disorder in children aged 2-6 years in Tianjin is rather high. It is urgent to improve the status of the autistic and intelligently disabled young children in China. In order to upgrade the level of early diagnostic and improve the intervention to autism and mental retardation, public awareness and training courses should be heightened. 展开更多
关键词 AUTISM mental retardation EPIDEMIOLOGY China
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Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion:A case report 被引量:1
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作者 Shuang-Zhu Lin Xin-Yu Zhou +1 位作者 Wan-Qi Wang Kai Jiang 《World Journal of Clinical Cases》 SCIE 2021年第23期6858-6866,共9页
BACKGROUND Forkhead box protein 1(FOXP1)(OMIM:605515)at chromosomal region 3p14.1 plays an important regulatory role in cell development and functions by regulating genetic expression.Earlier studies have suggested th... BACKGROUND Forkhead box protein 1(FOXP1)(OMIM:605515)at chromosomal region 3p14.1 plays an important regulatory role in cell development and functions by regulating genetic expression.Earlier studies have suggested that FOXP1,an oncogene,is capable of initiating tumorigenicity depending on the cell type.FOXP1 also plays an important role in regulating the cell development and functions of the immune system,e.g.,regulating B-cell maturation and mononuclear phagocyte differentiation,and in the occurrence and development of various immune diseases.The mRNA of this gene is widely expressed in humans,and its differential expression is related to numerous diseases.CASE SUMMARY A 5-year-old boy mainly presented with attention deficit and hyperactivity disorder and developmental retardation accompanied by gait instability and abnormal facial features(low-set ears).DNA samples were extracted from the child’s and his parents’peripheral blood to detect whole-exome sequences and whole-genome copy number variations.Results revealed heterozygous deletions of exon 6-21 of FOXP1 gene in the child.Physical examination upon admission showed that the child was generally in good condition,had a moderate nutritional status,a slightly slow response to external stimuli,equally large and equally round bilateral pupils,was sensitive to light reflection,and had poor eye contact and joint attention.He had no meaningful utterance and could not pronounce words properly.He was able to use gestures to simply express his thoughts,to perform simple actions,and to listen to instructions.He had no rash,cafe-au-lait macules,or depigmentation spots.He had thick black hair and low-set ears.He had highly sensitive skin,especially on his face and palms.He had no abnormal palm fingerprint.Cardiopulmonary and abdominal examinations revealed no abnormalities.He had normal limb muscle strength and tension.He showed normal tendon reflexes of both knees.His bilateral Babinski and meningeal irritation signs were negative.He had a normal male vulva.CONCLUSION We report the characteristic features of autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion.This study provides a molecular basis for etiological diagnosis and treatment of the child,as well as for genetic counseling for the pedigree. 展开更多
关键词 mental retardation Developmental retardation FOXP1 Genetic expression Case report
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GABAB receptor upregulates fragile X mental retardation protein expression in neurons 被引量:1
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《中国药理学通报》 CAS CSCD 北大核心 2015年第B11期84-84,共1页
Aim Fragile X mental retardation protein (FMRP) is an RNA-binding protein important for the control of translation and synaptic function. The mutation or silencing of FMRP causes Fragile X syndrome (FXS) , which l... Aim Fragile X mental retardation protein (FMRP) is an RNA-binding protein important for the control of translation and synaptic function. The mutation or silencing of FMRP causes Fragile X syndrome (FXS) , which leads to intellectual disability and social impairment. γ-aminobutyric acid (GABA) is the major inhibitory neuro- transmitter of the mammalian central nervous system, and its metabotropic GABAB receptor has been implicated in various mental disorders. The GABAB receptor agonist baclofen has been shown to improve FXS symptoms in a mouse model and in human patients, suggesting the role of GABAB receptor on FMRP regulation. Here we investi- gated the signaling events linking the GABAB receptor and FMRP. Methods Western blot was used in this study to detect protein expression and kinase phosphorylation in cerebellar granule neurons. For key molecules in signal- ling pathway, RNAi was used in MEFs to confirm the results in neurons. Results GABAB receptor activation up- regulated cAMP response element binding protein-dependent Fmrp expression in cultured mouse cerebellar granule neurons via two distinct mechanisms: the transactivation of insulin-like growth factor-1 receptor and activation of protein kinase C. In addition, a positive allosteric modulator of the GABAB receptor, CGP7930, stimulated Fmrp expression in neurons. Conclusion These results suggest a role for GABAB receptor in Fmrp regulation and a po- tential interest of GABAB receptor signaling in FXS improvement. 展开更多
关键词 GABAB RECEPTOR fragile X mental retardation protein fragile X syndrome CREB INSULIN-LIKE growthfactor 1 RECEPTOR PKC positive ALLOSTERIC modulator
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Correlating fine motor function to cognitive competence in children with mental retardation An analysis of 42 cases
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作者 Xiaoli Qu Hong Yang Hui Li Bingpei Shi Wei Shi Dongdong Chen Donghao Xu Jing Miu 《Neural Regeneration Research》 SCIE CAS CSCD 2008年第3期341-344,共4页
BACKGROUND: In clinical practice, the degree of cognitive competence damage correlates to fine motor function deficits in children with psychomotor development retardation. Clear correlations between the two can help... BACKGROUND: In clinical practice, the degree of cognitive competence damage correlates to fine motor function deficits in children with psychomotor development retardation. Clear correlations between the two can help to develop and perform corresponding functional training for children with mental retardation (MR). OBJECTIVE: This study was designed to evaluate and analyze the correlation of fine motor function to cognitive competence in MR children using the Peabody Developmental Motor Scale-Fine Motor (PDMS-FM) and Symbolic Play Test. DESIGN: Scale evaluation and correlation analysis. SETTING: Children's Rehabilitation Center & Huajing District Hospital, Children's Hospital Affiliated to Fudan University. PARTICIPANTS: A total of 42 MR children, 28 males and 14 females, aged 14-69 months, were admitted to the Rehabilitation Center, Children's Hospital, Fudan University between June 2003 and April 2006, and were recruited for this study. All children corresponded to MR diagnosis criteria determined by Chinese Neurology and Psychiatry Society in 1989. Written informed consent for participating in the evaluation and for evaluated content was obtained from each child's guardian. METHODS: Subsequent to admission and prior to treatment, fine motor function of each MR child was evaluated using PDMS-FM (Chinese version). The scale captured 98 items that formed the grasping (Gr) and visual-motor integration (Vi) subtests. Cognitive competence was evaluated using the Symbolic Play Test (Chinese version), which captured four 6-item specific contents. The original score of each subtest was used to evaluate results for statistical analysis. Higher scores from the two evaluations indicated stronger abilities. Pearson correlation analysis was applied for analyzing data correlation. MAIN OUTCOME MEASURES: Fine motor function was evaluated using PDMS-FM. Cognitive competence was measured using the Symbolic Play Test. Correlations between results from the two evaluations were analyzed. RESULTS: All 42 MR children were included in the final analysis. Correlation analysis results demonstrated significant positive correlations of original scores existed between Gr and Vi subtests in the PDMS-FM (r = 0.761, P 〈 0.01), and between Vi and Gr subtests in PDMS-FM and Symbolic Play Test (r = 0.663, 0.450, P 〈 0.01). CONCLUSION: Fine motor function closely correlates to cognitive competence in MR children. This indicates fine motor function training should be developed in combination with cognitive competence training. 展开更多
关键词 mental retardation fine motor function cognitive competence
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Molecular Genetic Analysis of Partial 9p Trisomy in Two Chinese Families with Mental Retardation and Facial Anomaly
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作者 冯爱平 代小华 +5 位作者 王晓然 高勇 罗瑞丽 李雨雷 张娜 刘静宇 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2011年第4期570-577,共8页
Mental retardation is defined by significant limitations in intellectual function and adaptive behavior that occur before 18 years of age.Many chromosomal diseases come with mental retardation.We reported two Chinese ... Mental retardation is defined by significant limitations in intellectual function and adaptive behavior that occur before 18 years of age.Many chromosomal diseases come with mental retardation.We reported two Chinese families with partial trisomy 9p and other chromosome partial monosomy,clinical features of mental retardation and mild facial and pinkie anomalies.In the family 1,we showed that the proband carried a trisomy 9p21.3→pter and monosomy 21q22.3→qter by using fluorescence in situ hybridization analysis.Molecular genetic analysis defined the precise breakpoint on chromosome 9p between markers D9S1846 and D9S171,an interval of about 2.9 Mb on 9p21.3,and the breakpoint on chromosome 21q between markers D21S1897 and D21S1446,a region of about 1.5 Mb on 21q22.3.In the family 2,a patient with trisomy 9p21.3→pter and monosomy 5p15.33→pter,and a de novo maternal balanced translocation between chromosomes 5 and 9 was identified in his mother.Cytogenetic and molecular genetic analysis defined the precise breakpoints on chromosome 9p21.3 and chromosome 5p15.33.Further clinical investigation found that any individual had no refractoriness eczema disease except the proband in this family.These results further implicate that trisomy 9p is associated with mental retardation,and that there may be key gene duplication on chromosome 9p21.3→9pter responsible for mental retardation and mild facial anomaly.This result has been applied successfully in prenatal diagnosis of the second family. 展开更多
关键词 partial 9p trisomy mental retardation molecular genetic analysis prenatal diagnosis
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Primed In Situ Labeling Technique for Subtelomeric Rearrangements in 70 Children with Idiopathic Mental Retardation
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作者 田虹 余慧 +1 位作者 付四清 金润铭 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2011年第6期834-836,共3页
Subtelomeric rearrangements contribute to idiopathic mental retardation (MR), but most children with idiopathic MR do not show any chromosome abnormalities with standard cytogenetic analysis. The primed in situ labe... Subtelomeric rearrangements contribute to idiopathic mental retardation (MR), but most children with idiopathic MR do not show any chromosome abnormalities with standard cytogenetic analysis. The primed in situ labeling (PRINS) technique, using an oligonucleotide primer complementary to the telemetric repeat sequences (TTAGGG), can identify chromosome telomeric abnormality (deletion) in idiopathic MR children. In this study, seventy children with idiopathic MR were enrolled and subjected to PR1NS. The results showed normal karyotype in all the children, subtelomeric rearrangements (lq del and 4q del) in 2 cases, which was confirmed by fluorescence in situ hybridization (FISH). It was concluded that PRINS is effective for the detection of subtelomeric rearrangements and may become a routine technique for cytogenetical abnormality screening. 展开更多
关键词 primed in situ labeling fluorescence in situ hybridization idiopathic mental retardation
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A STUDY ON CNV OF PATIENTS WITH MENTAL RETARDATION 被引量:3
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作者 CHEN Xingshi Shanghai Institute of Mental Health,Shanghai,200030 《现代电生理学杂志》 2002年第4期170-173,共4页
Objective: To investigate the variations of contingent negative variation (CNV) of petients with mental retardation. Methods: The CNV was recorded in 16 children with mental retardation (MR) and 14 healthly age-matche... Objective: To investigate the variations of contingent negative variation (CNV) of petients with mental retardation. Methods: The CNV was recorded in 16 children with mental retardation (MR) and 14 healthly age-matched controls. And CNV retest was carried out in 11 children with MR after one yeat treatment of Piracetam. Results: Compared with the normal control, the CNV of MR group showed prolonged postimperative negative variation (PINV) duration (P<0.01) and total A-C duration (P < 0.01), decreased amplitude B (P<0.01 ), and reduced preimperative A-S2 area (P<0.01). A comparison of the CNV of MR group was made between before and after one year treatment of Piracetam and no significant difference was found. Conclusions:The significant CNV variations were found in children with MR and these abnormal changes presisted throughout the Piracetam treatment. 展开更多
关键词 智力发育迟缓 治疗 儿童 智力测验 CNV 偶然负变分
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Periodontal Tissue Status among Mental Retardation Patients with Fixed Prosthodontic Appliances
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作者 Mohammed M. A. Abdullah Al-Abdaly Abdulaziz Mushabbab Abu Qahas +1 位作者 Abdullah Mushabbab Ali Honbos Abdulrahman Ahmed Abdullah Alshehri 《International Journal of Clinical Medicine》 2018年第1期49-58,共10页
Background: The mental, physical and social impediments cause limitation of chances in normal life as an equal level with others of the community;particularly in relation to maintain good oral hygiene and periodontal ... Background: The mental, physical and social impediments cause limitation of chances in normal life as an equal level with others of the community;particularly in relation to maintain good oral hygiene and periodontal health among the disabled patients who were receiving fixed partial denture. So the present study was performed to evaluate the periodontal tissue status among mental retardation patients with fixed prosthodontic appliances. Subjects and Methods: A total of 400 patients between the ages 18 and 50 years were clinically selected from outpatient clinics, college of dentistry, King Khalid University and rehabilitation center in Abha city, Saudi Arabia. They were divided into two equal groups as the following: group I: Two hundred mental retardation patients without fixed prosthodontic appliances (control group) and, group II: Two hundred mental retardation patients had fixed prosthodontic appliances for at least a year ago. A complete periodontal clinical examination was performed and the following indices were recorded: plaque index (PLI), gingival index (GI), and clinical attachment loss (CAL). All data was recorded and analyzed by ANOVA test. Results: The clinical results of the present study confirmed the relationship among the mental retardation, fixed prosthodontic appliances and destruction of periodontal tissues. It has been found that the severity of periodontal disease increases among the study group compared to the control group. Statistically significant differences were found in PLI, GI and CAL in the comparison between group I and II (p Conclusion: There was a negative relationship between mental retardation with a status of periodontal tissues and oral hygiene among the patients under fixed prosthodontic management. 展开更多
关键词 Fixed PROSTHODONTIC Appliances mental retardation PERIODONTAL TISSUE STATUS
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Prevalence of Mental Retardation in Children of Shimoga District—An Overview
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作者 K. S. Ramprasad R. Manjunathaswamy 《Open Journal of Psychiatry》 2018年第2期115-119,共5页
Background: Mental retardation is an important condition in children. People in the community need to be aware of the presence, need to act and prevent this problem. Mental retardation means mental growth of the child... Background: Mental retardation is an important condition in children. People in the community need to be aware of the presence, need to act and prevent this problem. Mental retardation means mental growth of the child is not at par with physical growth. Mental retardation is calculated as intelligence quationent. (IQ) = Mental age/chronological age × 100. There are causes and can be categorized as prenatal, natal and postnatal factors. Mental retardation is classified as Mild Mental retardation IQ of 51 - 70;Moderate Mental retardation IQ of 36 - 50;Severe Mental retardation IQ of 21 - 35;Profound Mental retardation IQ of less than 20. IQ of 71 - 89 is designated as borderline mental retardation. Objectives: Analyzing the procured data creates awareness in the society regarding mental retardation and its burden to the society. Results: The analysis is done using the data provided from the office of Deputy Director, Department of Public Instruction, Sarvashikshana Abhiyana (SSA) Shimoga District [1]. 555 children were having mental retardation ranging from mild to profound severity. The total number of children with various disabilities was 1185, mental retardation alone was nearing 50% of the total disabilities. Conclusion: 50% of total disability was found to be mental retardation which needs to proliferate. 展开更多
关键词 SSA-Sarvashikshana Abhiyana DDPI: DEPUTY DIRECTOR of Public Instructions mental retardation—MR
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The Influence of the Family on the Development of Psychosomatic Disorders in Preschool Children With Mental Retardation
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作者 Svetlana Aleksandrovna Mugal 《Psychology Research》 2016年第5期270-274,共5页
关键词 学龄前儿童 智力低下 家庭 精神障碍 心理障碍 人格特征 频率特性 危险因素
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INFLUENCE OF ACUPUNCTURE ("JIN'S SAN ZHEN") ON BRAINSTEM EVOKED POTENTIALS IN MENTAL RETARDATION CHILDREN
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作者 袁青 马瑞玲 靳瑞 《World Journal of Acupuncture-Moxibustion》 2002年第3期8-12,共5页
Objective: To investigate the effect of acupuncture ("JIN’s San Zhen") on infantile mental retardation (MR). Methods: 44 cases of MR children were attributed to treatment group and 39 normal children to con... Objective: To investigate the effect of acupuncture ("JIN’s San Zhen") on infantile mental retardation (MR). Methods: 44 cases of MR children were attributed to treatment group and 39 normal children to control group. P 3 (event related potential) and brainstem evoked potentials were used as the indexes. Acupoints "Si shen Zhen", "Head Zhi San Zhen", "Hand Zhi San Zhen", "Foot Zhi San Zhen" were punctured with filiform needles, and stimulated by manipulating the needle once every 5 minutes with uniform reinforcing reducing method. The treatment was conducted once daily, 6 times every week, with 4 months being a therapeutic course. Results: In comparison with normal children, the latency of P 3 was longer and its amplitude lower in MR children. After 4 months’ acupuncture treatment, the latency was shortened and the amplitude increased significantly in comparison with pre treatment (P<0.01, 0.05). Results of the total intelligence quotient (TIQ) evaluation showed a 70.3% coincidence rate compared with improvement of P 3. Conclusion: Changes of P 3 and BAEP(brain auditory evoked potential) after acupuncture treatment may be related to the effect of "JIN’s San Zhen" in bettering clinical symptoms and signs of MR infantile patients. 展开更多
关键词 Infantile mental retardation Acupuncture therapy Cerebral evoked potential P 3 BAEP
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Improvement of mental retardation plus epilepsy in children following management
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作者 刘振寰 潘佩光 《中国临床康复》 CSCD 2002年第9期1384-1384,共1页
Objective To investigate the effective management approaches for mental retardat ion plus epilepsy in children.Method Sodium valproat 15~60mg /(kg·day)or nitrazepam0.5~1mg /(kg·day)and guanmaishu containin... Objective To investigate the effective management approaches for mental retardat ion plus epilepsy in children.Method Sodium valproat 15~60mg /(kg·day)or nitrazepam0.5~1mg /(kg·day)and guanmaishu containing hyoscyam ine(0.0045~0.045mg /(kg·day)as adjuvant were administered for 1.5~2consecutive years.EEG,three di mensional Doppler ultrasonic exami nation of cerebral vessels were performed.Result Favorable therapeutic effect was obtained in 25cases(48.1%),good effect in 12cases(23.1%).Conclusion Favorable therapeutic effect of hyoscyamine i n epilepsy is correlated with improved cerebral microcirculation,cortical choline receptor blocking ,red uced con-duction between synapses.These factors all inhibit onset of epilepsy. 展开更多
关键词 儿童 精神发病迟缓 合并症 癫痫 治疗
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Prevalence of Strongyloides stercoralis and other intestinal parasitic infections among mentally retarded residents in central institution of southern Iran
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作者 Azar Shokri Khojasteh Sharifi Sarasiabi +1 位作者 Saeed Hosseini Teshnizi Hamid Mahmoodi 《Asian Pacific Journal of Tropical Biomedicine》 SCIE CAS 2012年第2期88-91,共4页
Objective:To determine the prevalence of intestinal parasitic infections among mentally retarded residents of rehabilitation center of Bandar Abbas,Hormozgan province,southern Iran.Methods:A cross-sectional study was ... Objective:To determine the prevalence of intestinal parasitic infections among mentally retarded residents of rehabilitation center of Bandar Abbas,Hormozgan province,southern Iran.Methods:A cross-sectional study was carried out in central rehabilitation institute of Hormozgan province in summer 2010.Fecal samples of all 133 residents(72 males,61 females)aged 3-52,were collected in triplicate.Specimens were examined by direct smear,formalin-ether concentration techniques and stained by permanent Trichrome,Ziehl-Neelsen stains.Statistical analysis was conducted by SPSS 13.5.Results:Intestinal parasitic infections were seen in 48.5%(64 out of 133 subjects:53.4%in males and 46.6%in females).Strongyloides stercoralis with17.3%showed the highest incidence followed by Entamoeba coli(9.8%),Blastocystis hominis(7.5%),Giardia lamblia(2.3%),Endolimax nana(2.3%),Hymenolepis nana(0.8%),Oxyuris vermicularis(0.8%),and Chilomasix mesnili(0.8%).Double infections were found to be as:Strongyloides stercoralis+Giardia lamblia(2.3%),Entamoeba coli+Giardia lamblia(1.5%),Entamoeba coli+Blastocystis hominis(1.5%),Oxyuris vermicularis+Entamoeba coli(0.8%),Strongyloides stercoralis+Entamoeba coli(0.8%),respectively.Conclusions:Our findings reveal that strongyloidiasis is a common disease among mentally retarded population in southern Iran. 展开更多
关键词 INTESTINAL pararsites mentally retarded Hormozgan Iran STRONGYLOIDES stercoralis STRONGYLOIDIASIS PARASITIC infection Rehabilitation centre
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On the Lawful Rights and Interests of Mentally Retarded Children——A case study of a rehabilitation center in Liaoning Province
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作者 XIAN KAILIN ,QIAO WEIJU a professor with the School of Marxism of Dongbei University of Finance and Economics and director of the school’s Research Center for Human Rights Theories a postgraduate majoring in politics at the Graduate School of Dongbei University of Finance and Economics 《The Journal of Human Rights》 2012年第4期30-35,共6页
Mentally retarded children are the most disadvan- taged among disabled children. Since the reform and opening up, with sup- port from the Communist Party of China, the government and the public, the legitimate rights ... Mentally retarded children are the most disadvan- taged among disabled children. Since the reform and opening up, with sup- port from the Communist Party of China, the government and the public, the legitimate rights and interests of mentally retarded children have greatly improved. But problems in this respect remain serious, and vari- ous levels of government, relevant departments and the public should attach much importance to these problems. This paper, taking a reha- bilitation center in Liaoning Province for mentally retarded children as a single case, studies the protection of these children's lawful rights and in- terests in a systematic manner. 展开更多
关键词 On the Lawful Rights and Interests of mentally retarded Children A case study of a rehabilitation center in Liaoning Province CASE
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Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness:A case report 被引量:3
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作者 Feng-Juan Ding Gui-Zhen Lyu +1 位作者 Victor Wei Zhang Hua Jin 《World Journal of Clinical Cases》 SCIE 2021年第30期9302-9309,共8页
BACKGROUND The DYNC1H1 gene encodes a part of the dynamic protein,and the protein mutations may further affect the growth and development of neurons,resulting in degeneration of anterior horn cells of the spinal cord,... BACKGROUND The DYNC1H1 gene encodes a part of the dynamic protein,and the protein mutations may further affect the growth and development of neurons,resulting in degeneration of anterior horn cells of the spinal cord,and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20(CMT20),mental retardation 13(MRD13)and spinal muscular atrophy with lower extremity predominant 1(SMA-LED).The incidence of the disease is low,and it is difficult to diagnose,especially in children.Here,we report a case of DYNC1H1 gene mutation and review the related literature to improve the pediatrician’s understanding of DYNC1H1 gene-related disease to make an early correct diagnosis and provide better services for children.CASE SUMMARY A 4-mo-old Chinese female child with adducted thumbs,high arch feet,and epileptic seizure presented slow response,delayed development,and low limb muscle strength.Electroencephalogram showed abnormal waves,a large number of multifocal sharp waves,sharp slow waves,and multiple spasms with a series of attacks.High-throughput sequencing and Sanger sequencing identified a heterozygous mutation,c.5885 G>A(p.R1962H),in the DYNC1H1 gene(NM 001376)of the proband,which was not identified in her parents.Combined with the clinical manifestations and pedigree of this family,this mutation is likely pathogenic based on the American Academy of Medical Genetics and Genomics guidelines.The child was followed when she was 1 year and 2 mo old.The magnetic resonance imaging result was consistent with the findings of white matter myelinated dysplasia and congenital giant gyrus.The extensive neurogenic damage to the extremities was considered,as the results of electromyography showed that the motor conduction velocity and sensory conduction of the nerves of the extremities were not abnormal,and the degree of fit of the children with severe contraction was poor.At present,the child is 80 cm in length and 9 kg in weight,with slender limbs and low muscle strength,and still does not raise her head.She cannot sit or speak.Speech,motor,and mental development was significantly delayed.There is still no effective treatment for this disease.CONCLUSION We herein report a de novo variant of DYNC1H1 gene,c.5885 G>A(p.R1962H),leading to overlapping phenotypes(seizure,general growth retardation,and muscle weakness)of CMT20,MRD13,and SMA-LED,but there is no effective treatment for such condition.Our case enriches the DYNC1H1 gene mutation spectrum and provides an important basis for clinical diagnosis and treatment and genetic counseling. 展开更多
关键词 DYNC1H1 mental retardation Muscle weakness Medical exome sequencing Case report
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Neurodevelopmental Problems in Children at 9 Months of Age Associated with Neonatal Hypoxic-Ischemic Encephalopathy 被引量:1
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作者 Evelyn Mungyeh Mah Seraphin Nguefack +5 位作者 Hélène Kamo Selangai Andréas Chiabi Mbassi Awa Félicité Dongmo Mazou Ngou Temgoua Elie Mbonda 《Open Journal of Pediatrics》 2017年第2期98-108,共11页
Introduction: Neonatal asphyxia is a major cause of infant morbidity in Cameroon. The aim of this study was to describe the short-term neurological outcome of children following neonatal Hypoxic-ischemic encephalopath... Introduction: Neonatal asphyxia is a major cause of infant morbidity in Cameroon. The aim of this study was to describe the short-term neurological outcome of children following neonatal Hypoxic-ischemic encephalopathy (HIE). Methodology: We conducted a retrospective cohort study from May 2010 to September 2013. We included 39 exposed cases against 78 non-exposed cases followed-up for at least 9 months. The variables studied were: age, sex, head circumference, neurological sequelae, postural anomalies and motor skills and developmental age/quotient. The data collected were analyzed using Epi info software version 3.5.3. The Fisher Exact Test was used to compare the variables with a significance threshold defined for p Results: We recruited 39 cases for 78 controls. The majority (74.40%) of cases were classified as HIE Sarnat 3 and 25.60% Sarnat 2. Most of the children were aged 12 - 36 months with a mean age of 18 months. The male sex was predominant with a sex ratio of 1.2;and 61.50% of children with HIE had head circumference Conclusion: The frequency of neurological sequelae following HIE was high in our series. Efforts should be made to prevent perinatal asphyxia and to ensure the availability of material and staff trained to help babies’ breath in all the delivery rooms in our maternities. 展开更多
关键词 Hypoxic-Ischemic ENCEPHALOPATHY Cerebral PALSY mental retardation Cameroon
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郭氏背三针结合头针丛刺法治疗智力障碍/全面发育迟缓儿童的疗效观察 被引量:1
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作者 史华 曹彩红 +6 位作者 侯玉晋 郭鑫 单海军 介小素 娄元俊 梁东林 江凯静 《成都医学院学报》 CAS 2024年第3期451-455,共5页
目的 观察郭氏背三针结合头针丛刺法治疗智力障碍/全面发育迟缓儿童的疗效。方法 选取2022年4月至2023年8月河南省中医院收治的70例全面发育迟缓或智力障碍患儿,采用随机数字表法,将患者分成试验组和对照组,每组各35例,对照组仅给予头... 目的 观察郭氏背三针结合头针丛刺法治疗智力障碍/全面发育迟缓儿童的疗效。方法 选取2022年4月至2023年8月河南省中医院收治的70例全面发育迟缓或智力障碍患儿,采用随机数字表法,将患者分成试验组和对照组,每组各35例,对照组仅给予头针丛刺法配合常规康复训练,试验组在对照组基础上给予郭氏背三针治疗。比较治疗前后儿童神经心理发育量表(Gesell)评分发育商、韦氏儿童智力测试(WISC)评分、婴儿-初中生社会生活能力量表(S-M)评分及脑血流动力学指标[脑动脉平均血流速度(Vm)、收缩期峰流速度(Vs)、血管阻力指数(RI)及血管搏动指数(PI)],比较两组临床疗效和不良事件发生情况。结果 试验组治疗后总有效率(91.43%)较对照组(71.43%)高(P<0.05);治疗后Gesell评分各发育商、WSIC各评分及(≥5岁和<5岁)的S-M评分均较治疗前高,且试验组较对照组高(P<0.05);治疗后Vm、Vs、PI均较治疗前高,且试验组较对照组高(P<0.05);治疗后RI较治疗前低,且试验组较对照组低(P<0.05);两组不良事件发生率比较差异无统计学意义(P>0.05)。结论 郭氏背三针结合头针丛刺法治疗智力障碍/全面发育迟缓儿童疗效明显,可提高儿童的神经发育、智力发育及生活能力,改善脑血流动力学,且有良好的安全性。 展开更多
关键词 智力障碍 全面发育迟缓 儿童 郭氏背三针 头针丛刺法 临床疗效
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低频经颅磁刺激联合早期康复训练在伴智力低下孤独症谱系障碍患儿中的应用 被引量:1
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作者 王贝贝 张少华 +1 位作者 高芳 赵梦姿 《河南医学研究》 CAS 2024年第14期2592-2595,共4页
目的探究低频经颅磁刺激(TMS)联合早期康复训练治疗伴智力低下孤独症谱系障碍(ASD)患儿的效果。方法选取南阳市第一人民医院2018年2月至2022年9月收治的104例伴智力低下ASD患儿,按随机数字表法分成两组,每组52例。以接受早期康复训练的5... 目的探究低频经颅磁刺激(TMS)联合早期康复训练治疗伴智力低下孤独症谱系障碍(ASD)患儿的效果。方法选取南阳市第一人民医院2018年2月至2022年9月收治的104例伴智力低下ASD患儿,按随机数字表法分成两组,每组52例。以接受早期康复训练的52例伴智力低下ASD患儿列为B组,以接受低频TMS联合早期康复训练的52例伴智力低下ASD患儿列为A组。对比两组治疗前后孤独症行为评定量表(ABC)评分、中国韦氏儿童智力量表(C-WISC)评分、儿童感觉统合评定量表(CSIRS)评分、事件相关电位(ERP)P3潜伏期、波幅、神经递质[γ-氨基丁酸(GABA)、谷氨酸(GLU)、5-羟色胺(5-HT)、脑源性神经营养因子(BDNF)]水平。结果治疗6个月后A组感觉、交往、躯体运动、语言、生活自理评分较B组低(P<0.05);治疗6个月后A组言语智商、操作智商及总智商评分较B组高(P<0.05);治疗6个月后A组学习能力、触觉防御、本体感觉、前庭失衡评分较B组高(P<0.05);治疗6个月后A组ERP P3潜伏期较B组低,波幅较B组高(P<0.05);治疗6个月后A组血清GLU、5-HT、BDNF水平较B组低,血清GABA水平较B组高(P<0.05)。结论低频TMS联合早期康复训练治疗伴智力低下ASD患儿可进一步改善行为能力,提升智力水平,改善感觉统合能力,维持中枢神经系统内环境平衡。 展开更多
关键词 智力低下 孤独症谱系障碍 神经递质
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Acupuncture at jing-well point combined with educational training for the treatment of children with severe mental retardation 被引量:2
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作者 罗冠君 招文健 +3 位作者 李诺 金炳旭 谭晓如 刘振寰 《World Journal of Acupuncture-Moxibustion》 CSCD 2015年第2期7-11,27,共6页
Objective To observe clinical efficacy of acupuncture at ]ing-well point combined with educational training for the treatment of children with severe mental retardation. Methods Sixty children with severe mental retar... Objective To observe clinical efficacy of acupuncture at ]ing-well point combined with educational training for the treatment of children with severe mental retardation. Methods Sixty children with severe mental retardation were randomly divided into ]ing-well point acupuncture plus simple special education and language training group (group A) and simple special education and language training group (group B) with 30 child patients in each group according to registration order. All the patients were treated once every other day, 10 times as a course of treatment. There were 20 days of interval between each course of treatment. Curative effect was analyzed after 3 courses of treatment. Gesell Developmental Scale test was conducted for all children before and after treatment. Development quotient at the functional area of social adaptability, large motor, fine motor, language skill and social behavior of individuals was recorded and compared between groups and before and after treatment to evaluate the curative effect. Results Social adaptability and fine motor of children were improved in the group B after treatment. And in the group A, social adaptability, fine motor, language skill and social behavior of individuals were improved after treatment. Meanwhile, the group A was superior to the group B in curative effect of overall social adaptability and language skill (both P〈0.05). The overall response rate in group B was 23.3% (7/30) and in group A was 46.6% (14/30, P〈0.05). Conclusion Acupuncture at jing-well point combined with educational training can effectively improve the intelligence level of children with severe mental retardation and its curative effect is better than that of simply education and training. 展开更多
关键词 jing-well point mental retardation acupuncture therapy
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Acupuncture combined with ear point taping and pressing for sleep disturbance in 30 children with mental retardation 被引量:1
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作者 于海波 洪媛媛 WANG You-jing 《World Journal of Acupuncture-Moxibustion》 2012年第4期9-12,共4页
Objective To observe the therapeutic effect of acupuncture combined with ear point taping and pressing on sleep disturbance of the children with mental retardation. Method Thirty children of mental retardation with sl... Objective To observe the therapeutic effect of acupuncture combined with ear point taping and pressing on sleep disturbance of the children with mental retardation. Method Thirty children of mental retardation with sleep disturbance were treated with acupuncture combined with ear point taping and pressing therapy, Sìshénzhēn (四神针), Nǎosānzhēn (脑三针), Zhìsānzhēn (智三针), Nièsānzhēn (颞三针), Shǒuzhìzhēn (手智针) were selected as main acupoints, and adjunct points were used according to symptoms and syndrome differentiation. For ear point taping and pressing, ěrshénmén (耳神门 MA-TF1), Pízhìxià (皮质下 MA–AT1), Jiāogǎn (交感 MA-AH7), Xīn (心, heart), Shèn (肾 kidney), Pí (脾 spleen) were selected. The treatment was given two therapeutic courses, thrice each week, 36 sessions constituted one course. Child Sleep Habit Questionnaire (CSHQ) scale was used for assessment of sleep state before and after the treatment. Results After the treatment, among the 30 cases, 11 cases were markedly effective, 16 cases were effective and 3 cases were failed, the total effective rate was 90.0%; after the treatment, the children had significant improvement in the total time of sleep, the time of going to bed for sleep, sleep habit, sleep behavior, awaking state at night, getting-up state in the morning, sleep state in the daytime and the total score (P0.01, P0.001). Conclusion Acupuncture combined with ear point taping and pressing therapy has a positive therapeutic effect on sleep disturbance and increases sleep quality in varying degrees in children with mental retardation. 展开更多
关键词 sleep disturbance mental retardation ACUPUNCTURE ear point taping and pressing
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