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
Objective 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 retardat...Objective 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
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
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
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
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
128 children of mental retardation were diagnosed in accordance with the diagnostic stand-ards proposed by WHO in 1985. The patients were treated compositely with acupuncture, auriculo-acupoint pellet pressure and her...128 children of mental retardation were diagnosed in accordance with the diagnostic stand-ards proposed by WHO in 1985. The patients were treated compositely with acupuncture, auriculo-acupoint pellet pressure and herbal plasters on acupoints, bringing about improved mental developments in intelligence quotient (IQ) and social adaptation behaviour (SAB), as evidenced by recognized intelligence tests for children.展开更多
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
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(...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 PRINS.The results showed normal karyotype in all the children,subtelomeric rearrangements(1q 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
A 3-year-old female patient born of consanguineous parents presented to the (development and behavioral clinic) in Taif children hospital, Western Saudai Arabia, her mother complained that her daughter had speech dela...A 3-year-old female patient born of consanguineous parents presented to the (development and behavioral clinic) in Taif children hospital, Western Saudai Arabia, her mother complained that her daughter had speech delay, no eye to eye contact, and was performing stereotyped behaviors (hand flapping). The girl developed convulsions at the age of 3 months and was on anticonvulsant medication since that age;her convulsions were controlled on anti-epileptic treatment. Family history revealed that the girl had a 6-year-old male sibling who developed convulsions at the age of 4 months and is on antiepileptic medications;the boy suffered also from speech delay, absent social interaction, and repetitive behaviors. On examination the girl had characteristic features of angio-fibromas, hypo-pigmented macules on the trunk and legs, and moreover the boy had similar skin features plus hypo-pigmented tufts of hair. Both cases were diagnosed as Autistic spectrum disorder, tuberous sclerosis, and mental retardation. The family needed genetic counseling, while both cases needed as soon as possible behavioral and educational strategies.展开更多
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
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
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
In recent years, the NCAA student athlete population in the United States has surpassed 500,000, and is continuing to rise each year [1]. These student athletes work their entire lives academically and athletically to...In recent years, the NCAA student athlete population in the United States has surpassed 500,000, and is continuing to rise each year [1]. These student athletes work their entire lives academically and athletically to reach the ultimate goal: competing in university athletics. However, when these athletes reach university, they are met with non-stop training, homework, exams, and evolving social lives. We have conducted a study at the University of Evansville evaluating how participation in university athletics may impact mental health status among these student athletes, as well as measuring players’ awareness of accessible mental health resources. Over fifty percent of participants reported experiencing at least one mental health condition while competing in their sport;eighty percent reported having knowledge of the mental health resources available to them on campus, however, nearly thirty percent of those knowledgeable reported not knowing how to access these resources. This has indicated a gap in awareness and utilization of mental health resources among student athletes at the University of Evansville.展开更多
One in five Americans experience symptoms associated with at least one mental health disorder every year. These include behavioral addictions, which have long been overlooked despite their similar neural bases with su...One in five Americans experience symptoms associated with at least one mental health disorder every year. These include behavioral addictions, which have long been overlooked despite their similar neural bases with substance addictions. Gambling addiction, a type of behavioral addiction, deserves particular attention given the significant negative effects, this addiction has on financial and interpersonal health. The purpose of this paper is to review the available literature concerning the behavioral and neural processes involved in gambling addiction, including: the anticipation of reward, the role of dopamine, and the neural substrates of the decision-making processes involved in gambling addiction. Market research has also identified solutions that integrate applied neuroscience and self-tracking systems to monitor and manage mental health issues associated with gambling addiction. The authors then propose a gambling treatment-focused mobile app solution that addresses outstanding issues with a special design aimed at reversing plasticity in order to relieve the effects of gambling addiction. .展开更多
As one of the most famous large language models,ChatGPT has great potential for application in physical education.It can provide personalized exercise plans,a variety of exercise options,and interactive support.The in...As one of the most famous large language models,ChatGPT has great potential for application in physical education.It can provide personalized exercise plans,a variety of exercise options,and interactive support.The integration of ChatGPT into the teaching process can promote college students’participation in physical activities and improve their mental health while expanding the traditional teaching environment and promoting the reform of traditional teaching methods.However,the application of ChatGPT faces challenges and obstacles in physical education.To make full use of ChatGPT in physical education,it can be combined with wearable devices and sports equipment to enhance the efficiency of interactions with users.Relevant policies are urgently needed to avoid the improper use of users’data.展开更多
Early adolescence is a crucial developmental phase marked by significant physical,cognitive,and socioemotional changes.While stress is widely recognized as a notable risk factor during this period,not all individuals ...Early adolescence is a crucial developmental phase marked by significant physical,cognitive,and socioemotional changes.While stress is widely recognized as a notable risk factor during this period,not all individuals experiencing stress concurrently manifest compromised mental health.The association between stress and mental health outcomes is influenced by individual differences in characteristics and coping strategies.This study’s purpose was to assess the negative impact of stress on mental health,specifically focusing on symptoms of anxiety,depression,and psychological distress.Additionally,the research investigates whether different levels of physical activity can suppress the negative effects of stress.A total of 212 upper elementary school students(52.8%girls and 47.2%boys)from rural and urban areas voluntarily participated in the research.Participants online self-assessed on several measures:The Young Person’s CORE,Children’s Anxiety Scale,Children’s Depression Inventory,School Stress Intensity Scale for Students,and Physical Activity Questionnaire for Older Children.The results revealed a significant increase in adolescents experiencing impaired mental health.More than two-thirds(67.5%)of students self-assessed significant symptoms of depression,additionally,57.5%of them had significant symptoms of psychological distress,and 27.8%had significant symptoms of anxiety.Stress demonstrated a significant direct negative effect,leading to increased symptoms of anxiety(t=5.35,p=0.00)and psychological distress(t=4.29,p=0.00);however,there was no significant influence on depression(t=1.33,p=0.18)).Regarding regular physical activity,a significant moderating effect was identified,effectively suppressing the negative impact of stress on anxiety(F=3.88(2,206);p=0.02).In contrast,no significant moderation effect of physical activity was found for symptoms of depression(F=1.45(2,206);p=0.24)and psychological distress(F=1.14(2,206);p=0.32),highlighting a complex and intricate association between physical activity and various mental health outcomes.In conclusion,the practical implications of this study emphasize the importance of creating environments that reduce stressors for adolescents and promote regular physical activity as a means of fostering positive mental health outcomes.展开更多
While mental health issues are increasingly gaining attention in Ghana, little is known about the situation among deaf people. This study assessed the mental health care needs of deaf people in Ghana. A descriptive de...While mental health issues are increasingly gaining attention in Ghana, little is known about the situation among deaf people. This study assessed the mental health care needs of deaf people in Ghana. A descriptive design, consisting of interviews and focus group discussions, was used to collect data from 97 participants. Findings indicated that participants had limited knowledge on mental health issues. Mental health stigma, inaccessible mental health information and exclusion from mental health programmes were the major barriers hindering access to mental health care services. This study bridges the knowledge gap and provides evidence for the implementation of deaf-friendly services.展开更多
In this research, we study the relationship between mental workload and facial temperature of aircraft participants during a simulated takeoff flight. We conducted experiments to comprehend the correlation between wor...In this research, we study the relationship between mental workload and facial temperature of aircraft participants during a simulated takeoff flight. We conducted experiments to comprehend the correlation between work and facial temperature within the flight simulator. The experiment involved a group of 10 participants who played the role of pilots in a simulated A-320 flight. Six different flying scenarios were designed to simulate normal and emergency situations on airplane takeoff that would occur in different levels of mental workload for the participants. The measurements were workload assessment, face temperatures, and heart rate monitoring. Throughout the experiments, we collected a total of 120 instances of takeoffs, together with over 10 hours of time-series data including heart rate, workload, and face thermal images and temperatures. Comparative analysis of EEG data and thermal image types, revealed intriguing findings. The results indicate a notable inverse relationship between workload and facial muscle temperatures, as well as facial landmark points. The results of this study contribute to a deeper understanding of the physiological effects of workload, as well as practical implications for aviation safety and performance.展开更多
基金Supported by Natural Science Foundation of Jilin Province,No.20200201486JC.
文摘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.
基金This study was supported by the "973" Program of the Ministry of Science and Technology, China (2001CB510310).
文摘Objective 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.
文摘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.
文摘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.
文摘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.
文摘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.
文摘128 children of mental retardation were diagnosed in accordance with the diagnostic stand-ards proposed by WHO in 1985. The patients were treated compositely with acupuncture, auriculo-acupoint pellet pressure and herbal plasters on acupoints, bringing about improved mental developments in intelligence quotient (IQ) and social adaptation behaviour (SAB), as evidenced by recognized intelligence tests for children.
文摘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.
文摘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 PRINS.The results showed normal karyotype in all the children,subtelomeric rearrangements(1q 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.
文摘A 3-year-old female patient born of consanguineous parents presented to the (development and behavioral clinic) in Taif children hospital, Western Saudai Arabia, her mother complained that her daughter had speech delay, no eye to eye contact, and was performing stereotyped behaviors (hand flapping). The girl developed convulsions at the age of 3 months and was on anticonvulsant medication since that age;her convulsions were controlled on anti-epileptic treatment. Family history revealed that the girl had a 6-year-old male sibling who developed convulsions at the age of 4 months and is on antiepileptic medications;the boy suffered also from speech delay, absent social interaction, and repetitive behaviors. On examination the girl had characteristic features of angio-fibromas, hypo-pigmented macules on the trunk and legs, and moreover the boy had similar skin features plus hypo-pigmented tufts of hair. Both cases were diagnosed as Autistic spectrum disorder, tuberous sclerosis, and mental retardation. The family needed genetic counseling, while both cases needed as soon as possible behavioral and educational strategies.
基金supported by grants from National Natural Sciences Foundation of China [No. 30670736 and No.30972655 (J.Y.L.)]
文摘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.
文摘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.
文摘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.
文摘In recent years, the NCAA student athlete population in the United States has surpassed 500,000, and is continuing to rise each year [1]. These student athletes work their entire lives academically and athletically to reach the ultimate goal: competing in university athletics. However, when these athletes reach university, they are met with non-stop training, homework, exams, and evolving social lives. We have conducted a study at the University of Evansville evaluating how participation in university athletics may impact mental health status among these student athletes, as well as measuring players’ awareness of accessible mental health resources. Over fifty percent of participants reported experiencing at least one mental health condition while competing in their sport;eighty percent reported having knowledge of the mental health resources available to them on campus, however, nearly thirty percent of those knowledgeable reported not knowing how to access these resources. This has indicated a gap in awareness and utilization of mental health resources among student athletes at the University of Evansville.
文摘One in five Americans experience symptoms associated with at least one mental health disorder every year. These include behavioral addictions, which have long been overlooked despite their similar neural bases with substance addictions. Gambling addiction, a type of behavioral addiction, deserves particular attention given the significant negative effects, this addiction has on financial and interpersonal health. The purpose of this paper is to review the available literature concerning the behavioral and neural processes involved in gambling addiction, including: the anticipation of reward, the role of dopamine, and the neural substrates of the decision-making processes involved in gambling addiction. Market research has also identified solutions that integrate applied neuroscience and self-tracking systems to monitor and manage mental health issues associated with gambling addiction. The authors then propose a gambling treatment-focused mobile app solution that addresses outstanding issues with a special design aimed at reversing plasticity in order to relieve the effects of gambling addiction. .
文摘As one of the most famous large language models,ChatGPT has great potential for application in physical education.It can provide personalized exercise plans,a variety of exercise options,and interactive support.The integration of ChatGPT into the teaching process can promote college students’participation in physical activities and improve their mental health while expanding the traditional teaching environment and promoting the reform of traditional teaching methods.However,the application of ChatGPT faces challenges and obstacles in physical education.To make full use of ChatGPT in physical education,it can be combined with wearable devices and sports equipment to enhance the efficiency of interactions with users.Relevant policies are urgently needed to avoid the improper use of users’data.
文摘Early adolescence is a crucial developmental phase marked by significant physical,cognitive,and socioemotional changes.While stress is widely recognized as a notable risk factor during this period,not all individuals experiencing stress concurrently manifest compromised mental health.The association between stress and mental health outcomes is influenced by individual differences in characteristics and coping strategies.This study’s purpose was to assess the negative impact of stress on mental health,specifically focusing on symptoms of anxiety,depression,and psychological distress.Additionally,the research investigates whether different levels of physical activity can suppress the negative effects of stress.A total of 212 upper elementary school students(52.8%girls and 47.2%boys)from rural and urban areas voluntarily participated in the research.Participants online self-assessed on several measures:The Young Person’s CORE,Children’s Anxiety Scale,Children’s Depression Inventory,School Stress Intensity Scale for Students,and Physical Activity Questionnaire for Older Children.The results revealed a significant increase in adolescents experiencing impaired mental health.More than two-thirds(67.5%)of students self-assessed significant symptoms of depression,additionally,57.5%of them had significant symptoms of psychological distress,and 27.8%had significant symptoms of anxiety.Stress demonstrated a significant direct negative effect,leading to increased symptoms of anxiety(t=5.35,p=0.00)and psychological distress(t=4.29,p=0.00);however,there was no significant influence on depression(t=1.33,p=0.18)).Regarding regular physical activity,a significant moderating effect was identified,effectively suppressing the negative impact of stress on anxiety(F=3.88(2,206);p=0.02).In contrast,no significant moderation effect of physical activity was found for symptoms of depression(F=1.45(2,206);p=0.24)and psychological distress(F=1.14(2,206);p=0.32),highlighting a complex and intricate association between physical activity and various mental health outcomes.In conclusion,the practical implications of this study emphasize the importance of creating environments that reduce stressors for adolescents and promote regular physical activity as a means of fostering positive mental health outcomes.
文摘While mental health issues are increasingly gaining attention in Ghana, little is known about the situation among deaf people. This study assessed the mental health care needs of deaf people in Ghana. A descriptive design, consisting of interviews and focus group discussions, was used to collect data from 97 participants. Findings indicated that participants had limited knowledge on mental health issues. Mental health stigma, inaccessible mental health information and exclusion from mental health programmes were the major barriers hindering access to mental health care services. This study bridges the knowledge gap and provides evidence for the implementation of deaf-friendly services.
文摘In this research, we study the relationship between mental workload and facial temperature of aircraft participants during a simulated takeoff flight. We conducted experiments to comprehend the correlation between work and facial temperature within the flight simulator. The experiment involved a group of 10 participants who played the role of pilots in a simulated A-320 flight. Six different flying scenarios were designed to simulate normal and emergency situations on airplane takeoff that would occur in different levels of mental workload for the participants. The measurements were workload assessment, face temperatures, and heart rate monitoring. Throughout the experiments, we collected a total of 120 instances of takeoffs, together with over 10 hours of time-series data including heart rate, workload, and face thermal images and temperatures. Comparative analysis of EEG data and thermal image types, revealed intriguing findings. The results indicate a notable inverse relationship between workload and facial muscle temperatures, as well as facial landmark points. The results of this study contribute to a deeper understanding of the physiological effects of workload, as well as practical implications for aviation safety and performance.
