Objective:This study aims to investigate the impact of early intervention on neuropsychological development in children with autism and attention deficit hyperactivity disorder(ADHD),providing effective intervention s...Objective:This study aims to investigate the impact of early intervention on neuropsychological development in children with autism and attention deficit hyperactivity disorder(ADHD),providing effective intervention strategies for clinical practice.Methods:A total of 130 children with autism and ADHD who visited the hospital between June 2023 and June 2024 were selected as study subjects and randomly divided into an intervention group and a control group,with 65 children in each group.The intervention group received a one-year early comprehensive intervention,including behavioral therapy,cognitive training,and family guidance,while the control group only received routine medical care.The neuropsychological development assessment scale was used to evaluate both groups before and after the intervention to compare changes in their neuropsychological development levels.Results:Children in the intervention group showed significant improvements in cognitive function,social skills,language ability,and attention concentration,with an average improvement score of 23.5 points.Children in the control group did not show significant improvements in these areas,with an average improvement score of only 5.8 points.The difference between the two groups was statistically significant(P<0.05).Conclusion:Early comprehensive intervention has a significant promoting effect on the neuropsychological development of children with autism and ADHD.Targeted behavioral therapy,cognitive training,and family guidance can effectively enhance children’s cognitive,social,language,and attention abilities,laying a solid foundation for their future overall development.Therefore,it is recommended to actively promote and apply early intervention strategies in clinical practice.展开更多
Objective This study aimed to explore the clinical value of Children Neuropsychological and Behavioral Scale-Revision 2016(CNBS-R2016)for Autism Spectrum Disorder(ASD)screening in the presence of developmental surveil...Objective This study aimed to explore the clinical value of Children Neuropsychological and Behavioral Scale-Revision 2016(CNBS-R2016)for Autism Spectrum Disorder(ASD)screening in the presence of developmental surveillance.Methods All participants were evaluated by the CNBS-R2016 and Gesell Developmental Schedules(GDS).Spearman’s correlation coefficients and Kappa values were obtained.Taking GDS as a reference assessment,the performance of the CNBS-R2016 for detecting the developmental delays of children with ASD was analyzed with receiver operating characteristic(ROC)curves.The efficacy of the CNBS-R2016 to screen for ASD was explored by comparing Communication Warning Behavior with Autism Diagnostic Observation Schedule,Second Edition(ADOS-2).Results In total,150 children aged 12–42 months with ASD were enrolled.The developmental quotients of the CNBS-R2016 were correlated with those of the GDS(r=0.62–0.94).The CNBS-R2016 and GDS had good diagnostic agreement for developmental delays(Kappa=0.73–0.89),except for Fine Motor.There was a significant difference between the proportions of Fine Motor,delays detected by the CNBS-R2016 and GDS(86.0%vs.77.3%).With GDS as a standard,the areas under the ROC curves of the CNBS-R2016 were above 0.95 for all the domains except Fine Motor,which was 0.70.In addition,the positive rate of ASD was 100.0%and 93.5%when the cut-off points of 7 and 12 in the Communication Warning Behavior subscale were used,respectively.Conclusion The CNBS-R2016 performed well in developmental assessment and screening for children with ASD,especially by Communication Warning Behaviors subscale.Therefore,the CNBS-R2016 is worthy of clinical application in children with ASD in China.展开更多
Introduction: Dizziness is very prevalent and makes a great impact on people’s life. Because of anatomical and functional similarities of hearing and vestibular systems, it is noted that there is a big relation betwe...Introduction: Dizziness is very prevalent and makes a great impact on people’s life. Because of anatomical and functional similarities of hearing and vestibular systems, it is noted that there is a big relation between hearing loss and vestibular disorders. Depending on the age onset of hearing loss, it can cause even delay on motor development. Objective: To find literature that demonstrates the relation between hearing and balance. Confirming that hearing loss or even intervention to improve quality of hearing can interfere on vestibular system. Methodology: Revision of literature was carried out, preferring recent research only in English. Conclusion: Cochlea and vestibular systems have a close relationship;changes in one of them can cause big damage in the other. So, a complete evaluation of vestibular system is recommended before ear surgeries. Video Head Impulse Test is a new procedure able to evaluate high frequency movements of the head. It was an additional exam of vestibular status and came to help detect problems that were not diagnosed before. Efforts must be directed in order to protect the balance.展开更多
HIV-associated neurocognitive disorders (HAND) are chronic complications of HIV infection in the central nervous system. Clinical presentations include asymptomatic neurocognitive impairment (ANI), mild neurocognitive...HIV-associated neurocognitive disorders (HAND) are chronic complications of HIV infection in the central nervous system. Clinical presentations include asymptomatic neurocognitive impairment (ANI), mild neurocognitive impairment (MND), and HIV-associated dementia (HAD). In the era of combination antiretroviral therapy (cART), the prevalence of HAD has significantly decreased, but the rates of ANI and MND have increased, impairing patients’ daily functioning, medical adherence, employment, driving abilities, risk of HIV transmission, overall quality of life, and posing challenges to society, economy, families, and public health. This article reviews the latest research findings regarding the pathogenesis, clinical diagnosis and treatment, neuroimaging, and neuropsychological assessment of HAND, aiming to provide insights into the prevention and management of HAND.展开更多
BACKGROUND Bipolar disorder(BD)is a severe mental illness.BD often coexists with borderline personality disorders,making the condition more complex.AIM To explore the differences in cognitive impairment between patien...BACKGROUND Bipolar disorder(BD)is a severe mental illness.BD often coexists with borderline personality disorders,making the condition more complex.AIM To explore the differences in cognitive impairment between patients with BD and those with BD comorbid with borderline personality disorder.METHODS Eighty patients with BD and comorbid borderline personality disorder and 80 patients with BD alone were included in groups A and B,respectively,and 80 healthy volunteers were included as controls.Cognitive function in each group was evaluated using the Chinese version of the repeatable battery for the assess-ment of neuropsychological status(RBANS),the Stroop color-word test,and the Wechsler intelligence scale-revised(WAIS-RC).RESULTS The indices of the RBANS,Stroop color-word test,and WAIS-RC in groups A and B were significantly lower than those of the control group(P<0.05).Group A had significantly longer Stroop color-word test times for single-character,single-color,double-character,and double-color,lower scores of immediate memory,visual breadth,verbal function dimensions and total score of the RBANS,as well as lower scores of verbal IQ,performance IQ,and overall IQ of the WAIS-RC compared with group B(P<0.05).Compared to group B,group A exhibited significantly longer single-character time,single-color time,double-character time,and double-color time in the Stroop color-word test(P<0.05).CONCLUSION The cognitive function of patients with BD complicated with borderline personality disorder is lower than that of patients with BD.展开更多
The present study aims to establish a literature review on intervention programs for executive functions(EFs)through the use of fundamental motor skills,from a neuropsychopedagogical perspective in subjects with Devel...The present study aims to establish a literature review on intervention programs for executive functions(EFs)through the use of fundamental motor skills,from a neuropsychopedagogical perspective in subjects with Developmental Coordination Disorder(DCD).An exploratory study was carried out through an integrative literature review.The research was carried out in the Scientific databases Electronic Library Online(SciELO),Latin American and Caribbean Literature in Health Sciences(LILACS),Virtual Health Library-Psychology Brazil(BVSPSI),Electronic Journals of Psychology(PePSIC),in the periodicals available in the Brazilian Digital Library of Theses and Dissertations(BDTD)and on the website of the Coordination for the Improvement of Higher Education Personnel(CAPES).The covering publications took place from 2018 to 2023,14 articles were selected for analysis.This literature review made it possible to create strategies for stimulating EF and Visuomotor Functions so that educators and other professionals can better deal with students with DCD.It was perceived the need to carry out and develop more empirical research regarding the intervention of EFs and Visuomotor Functions by educators and professionals,with a greater sampling amplitude,to increase the number of studies that enable interventions both in children and in teenagers with DCD.展开更多
Objective: To report a case of intractable skin reactions caused by bone-anchored hearing aid (BAHA) implantation to improve our under-standing and treatment of BAHA implantation-caused skin reactions. Methods:We repo...Objective: To report a case of intractable skin reactions caused by bone-anchored hearing aid (BAHA) implantation to improve our under-standing and treatment of BAHA implantation-caused skin reactions. Methods:We reported a case of severe skin reactions caused by BAHA implantation. Related literature were also reviewed. Results:We found grade IV skin reactions, including hyperplasia around the implant, which led to the removal of the BAHA implant 10 months after implantation. The findings indicated poor skin hygiene, allergy to titanium and inadequate surgicals skills as the possible causes of the skin reaction. Conclusion: Skin adverse reactions, usually rare in BAHA implantation patients, may cause implant removal and implantation failure. We suggest to further investigate the mechanisms underlying titanium allergy. Copyright ? 2016, PLA General Hospital Department of Otolaryngology Head and Neck Surgery. Production and hosting by Elsevier (Singapore) Pte Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).展开更多
Past research has found a high prevalence of neuropsychological deficits and neurological soft signs in patients with obsessive-compulsive disorder (OCD). A close relationship between OCD and depression has also been ...Past research has found a high prevalence of neuropsychological deficits and neurological soft signs in patients with obsessive-compulsive disorder (OCD). A close relationship between OCD and depression has also been indicated in the literature. However, many aspects of this association remain unclear. In this study we compared neuropsychological functioning and neurological soft signs of 46 OCD patients who were off psychotropic medication (21 with significant depressive symptoms and 25 without) with 25 non-patient comparison subjects. The patients were matched to the comparison group with regard to age, sex, education, marital status and handedness. There were significant differences between OCD patients and the non-patient comparison group on neuropsychological functioning but not on neurological soft signs. As far as working memory concerns there was a significant difference between the OCD depressed and non-depressed groups. But we found no evidence that the neuropsychological functions such as cognitive flexibility, problem solving and spatial perception in OCD to be attributable to comorbid depression. The pattern of neuropsychological deficits in this sample of OCD patients is suggestive of orbito-frontal as well as dorsolateral prefrontal cortical dysfunction.展开更多
The aims were: (1) to study verbal communication skills presenting with verbal communication deficits by applying the MEC in HIV-1 patients, and (2) to analyze the proportion of patients Protocol. The authors eva...The aims were: (1) to study verbal communication skills presenting with verbal communication deficits by applying the MEC in HIV-1 patients, and (2) to analyze the proportion of patients Protocol. The authors evaluated 20 patients over 18 years of age HIV-1 positive; native speakers of Spanish; without alterations in language acquisition, reading, writing or history of neurological or psychiatric disease; patients undergoing antiretroviral treatment (not efavirenz) with viral load 〉 50 copies/mL, and patients not undergoing treatment. Their verbal communication abilities were evaluated with Protocol MEC. The results demonstrate that some of the skills evaluated are more vulnerable in HIV-1 patients. The tasks that showed the most frequent and systematic deficits among patients were discourse-level tasks and those that evaluate lexical semantic processing. The authors compared patients' performances with the "cut-off'. The scores were turned into score Z. A hierarchic cluster analysis was carried out to identify subgroups with different profiles according to the areas that were affected. The detection of communication deficit profiles in HIV-1 patients would be the starting point for the identification of disorders and the admission of the patients to health care system. This research constitutes an initial approach towards the identification of clinical profiles among HIV-1 patients.展开更多
Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and medicine.Panoramic variation analysis is imperative to analyze the disease phenotypes resul...Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and medicine.Panoramic variation analysis is imperative to analyze the disease phenotypes resulting from multilocus genomic variation.Here,a Pakistani family with parental consanguinity was presented,characterized with severe intellectual disability(ID),spastic paraplegia,and deafness.Homozygosity mapping,integrated single nucleotide polymorphism(SNP)array,whole-exome sequencing,and whole-genome sequencing were performed,and homozygous variants in TMEM141(c.270G>A,p.Trp90^(*)),DDHD2(c.411+767_c.1249-327del),and LHFPL5(c.250delC,p.Leu84^(*))were identified.A Tmem141^(p.Trp90^(*)/p.Trp90^(*))mouse model was generated.Behavioral studies showed impairments in learning ability and motor coordination.Brain slice electrophysiology and Golgi staining demonstrated deficient synaptic plasticity in hippocampal neurons and abnormal dendritic branching in cerebellar Purkinje cells.Transmission electron microscopy showed abnormal mitochondrial morphology.Furthermore,studies on a human in vitro neuronal model(SH-SY5Y cells)with stable shRNA-mediated knockdown of TMEM141 showed deleterious effect on bioenergetic function,possibly explaining the pathogenesis of replicated phenotypes in the cross-species mouse model.Conclusively,panoramic variation analysis revealed that multilocus genomic variations of TMEM141,DDHD2,and LHFPL5 together caused variable phenotypes in patient.Notably,the biallelic loss-of-function variants of TMEM141 were responsible for syndromic ID.展开更多
Orthorexia nervosa (ON) describes a fixation for proper nutrition and healthy foods that leads to die-tary restrictions and nutritional deficiencies over time. Given symptom overlap among ON, obsessive-compulsive diso...Orthorexia nervosa (ON) describes a fixation for proper nutrition and healthy foods that leads to die-tary restrictions and nutritional deficiencies over time. Given symptom overlap among ON, obsessive-compulsive disorder (OCD), and anorexia nervosa (AN), this study examines whether ON has a unique neuropsychological profile. Participants completed symptom checklists and neuropsychological tests chosen for their sensitivity to AN and OCD. Results showed that, across the full sample, ON is independently associated with self-reported weaknesses in Set-Shifting, Emotional Control, Self-Monitoring, and Working Memory. After controlling for AN and OCD variables, high- and low-ON groups differed in total correct trials on the Wisconsin Card Sorting Test. These areas of executive functioning, which are explained in the context of ON symptomatology, represent what would be considered the neuropsychological overlap among OCD and AN profiles.展开更多
文摘Objective:This study aims to investigate the impact of early intervention on neuropsychological development in children with autism and attention deficit hyperactivity disorder(ADHD),providing effective intervention strategies for clinical practice.Methods:A total of 130 children with autism and ADHD who visited the hospital between June 2023 and June 2024 were selected as study subjects and randomly divided into an intervention group and a control group,with 65 children in each group.The intervention group received a one-year early comprehensive intervention,including behavioral therapy,cognitive training,and family guidance,while the control group only received routine medical care.The neuropsychological development assessment scale was used to evaluate both groups before and after the intervention to compare changes in their neuropsychological development levels.Results:Children in the intervention group showed significant improvements in cognitive function,social skills,language ability,and attention concentration,with an average improvement score of 23.5 points.Children in the control group did not show significant improvements in these areas,with an average improvement score of only 5.8 points.The difference between the two groups was statistically significant(P<0.05).Conclusion:Early comprehensive intervention has a significant promoting effect on the neuropsychological development of children with autism and ADHD.Targeted behavioral therapy,cognitive training,and family guidance can effectively enhance children’s cognitive,social,language,and attention abilities,laying a solid foundation for their future overall development.Therefore,it is recommended to actively promote and apply early intervention strategies in clinical practice.
基金This study was supported by Emergency Technology Research Project of Huazhong University of Science and Technology(No.2020kfyXGYJ020).
文摘Objective This study aimed to explore the clinical value of Children Neuropsychological and Behavioral Scale-Revision 2016(CNBS-R2016)for Autism Spectrum Disorder(ASD)screening in the presence of developmental surveillance.Methods All participants were evaluated by the CNBS-R2016 and Gesell Developmental Schedules(GDS).Spearman’s correlation coefficients and Kappa values were obtained.Taking GDS as a reference assessment,the performance of the CNBS-R2016 for detecting the developmental delays of children with ASD was analyzed with receiver operating characteristic(ROC)curves.The efficacy of the CNBS-R2016 to screen for ASD was explored by comparing Communication Warning Behavior with Autism Diagnostic Observation Schedule,Second Edition(ADOS-2).Results In total,150 children aged 12–42 months with ASD were enrolled.The developmental quotients of the CNBS-R2016 were correlated with those of the GDS(r=0.62–0.94).The CNBS-R2016 and GDS had good diagnostic agreement for developmental delays(Kappa=0.73–0.89),except for Fine Motor.There was a significant difference between the proportions of Fine Motor,delays detected by the CNBS-R2016 and GDS(86.0%vs.77.3%).With GDS as a standard,the areas under the ROC curves of the CNBS-R2016 were above 0.95 for all the domains except Fine Motor,which was 0.70.In addition,the positive rate of ASD was 100.0%and 93.5%when the cut-off points of 7 and 12 in the Communication Warning Behavior subscale were used,respectively.Conclusion The CNBS-R2016 performed well in developmental assessment and screening for children with ASD,especially by Communication Warning Behaviors subscale.Therefore,the CNBS-R2016 is worthy of clinical application in children with ASD in China.
文摘Introduction: Dizziness is very prevalent and makes a great impact on people’s life. Because of anatomical and functional similarities of hearing and vestibular systems, it is noted that there is a big relation between hearing loss and vestibular disorders. Depending on the age onset of hearing loss, it can cause even delay on motor development. Objective: To find literature that demonstrates the relation between hearing and balance. Confirming that hearing loss or even intervention to improve quality of hearing can interfere on vestibular system. Methodology: Revision of literature was carried out, preferring recent research only in English. Conclusion: Cochlea and vestibular systems have a close relationship;changes in one of them can cause big damage in the other. So, a complete evaluation of vestibular system is recommended before ear surgeries. Video Head Impulse Test is a new procedure able to evaluate high frequency movements of the head. It was an additional exam of vestibular status and came to help detect problems that were not diagnosed before. Efforts must be directed in order to protect the balance.
文摘HIV-associated neurocognitive disorders (HAND) are chronic complications of HIV infection in the central nervous system. Clinical presentations include asymptomatic neurocognitive impairment (ANI), mild neurocognitive impairment (MND), and HIV-associated dementia (HAD). In the era of combination antiretroviral therapy (cART), the prevalence of HAD has significantly decreased, but the rates of ANI and MND have increased, impairing patients’ daily functioning, medical adherence, employment, driving abilities, risk of HIV transmission, overall quality of life, and posing challenges to society, economy, families, and public health. This article reviews the latest research findings regarding the pathogenesis, clinical diagnosis and treatment, neuroimaging, and neuropsychological assessment of HAND, aiming to provide insights into the prevention and management of HAND.
基金Hebei Province Medical Science Research Project,No.20221407.
文摘BACKGROUND Bipolar disorder(BD)is a severe mental illness.BD often coexists with borderline personality disorders,making the condition more complex.AIM To explore the differences in cognitive impairment between patients with BD and those with BD comorbid with borderline personality disorder.METHODS Eighty patients with BD and comorbid borderline personality disorder and 80 patients with BD alone were included in groups A and B,respectively,and 80 healthy volunteers were included as controls.Cognitive function in each group was evaluated using the Chinese version of the repeatable battery for the assess-ment of neuropsychological status(RBANS),the Stroop color-word test,and the Wechsler intelligence scale-revised(WAIS-RC).RESULTS The indices of the RBANS,Stroop color-word test,and WAIS-RC in groups A and B were significantly lower than those of the control group(P<0.05).Group A had significantly longer Stroop color-word test times for single-character,single-color,double-character,and double-color,lower scores of immediate memory,visual breadth,verbal function dimensions and total score of the RBANS,as well as lower scores of verbal IQ,performance IQ,and overall IQ of the WAIS-RC compared with group B(P<0.05).Compared to group B,group A exhibited significantly longer single-character time,single-color time,double-character time,and double-color time in the Stroop color-word test(P<0.05).CONCLUSION The cognitive function of patients with BD complicated with borderline personality disorder is lower than that of patients with BD.
文摘The present study aims to establish a literature review on intervention programs for executive functions(EFs)through the use of fundamental motor skills,from a neuropsychopedagogical perspective in subjects with Developmental Coordination Disorder(DCD).An exploratory study was carried out through an integrative literature review.The research was carried out in the Scientific databases Electronic Library Online(SciELO),Latin American and Caribbean Literature in Health Sciences(LILACS),Virtual Health Library-Psychology Brazil(BVSPSI),Electronic Journals of Psychology(PePSIC),in the periodicals available in the Brazilian Digital Library of Theses and Dissertations(BDTD)and on the website of the Coordination for the Improvement of Higher Education Personnel(CAPES).The covering publications took place from 2018 to 2023,14 articles were selected for analysis.This literature review made it possible to create strategies for stimulating EF and Visuomotor Functions so that educators and other professionals can better deal with students with DCD.It was perceived the need to carry out and develop more empirical research regarding the intervention of EFs and Visuomotor Functions by educators and professionals,with a greater sampling amplitude,to increase the number of studies that enable interventions both in children and in teenagers with DCD.
基金supported by Guangdong Provincial Science and Technology Project:2013B022000046
文摘Objective: To report a case of intractable skin reactions caused by bone-anchored hearing aid (BAHA) implantation to improve our under-standing and treatment of BAHA implantation-caused skin reactions. Methods:We reported a case of severe skin reactions caused by BAHA implantation. Related literature were also reviewed. Results:We found grade IV skin reactions, including hyperplasia around the implant, which led to the removal of the BAHA implant 10 months after implantation. The findings indicated poor skin hygiene, allergy to titanium and inadequate surgicals skills as the possible causes of the skin reaction. Conclusion: Skin adverse reactions, usually rare in BAHA implantation patients, may cause implant removal and implantation failure. We suggest to further investigate the mechanisms underlying titanium allergy. Copyright ? 2016, PLA General Hospital Department of Otolaryngology Head and Neck Surgery. Production and hosting by Elsevier (Singapore) Pte Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
文摘Past research has found a high prevalence of neuropsychological deficits and neurological soft signs in patients with obsessive-compulsive disorder (OCD). A close relationship between OCD and depression has also been indicated in the literature. However, many aspects of this association remain unclear. In this study we compared neuropsychological functioning and neurological soft signs of 46 OCD patients who were off psychotropic medication (21 with significant depressive symptoms and 25 without) with 25 non-patient comparison subjects. The patients were matched to the comparison group with regard to age, sex, education, marital status and handedness. There were significant differences between OCD patients and the non-patient comparison group on neuropsychological functioning but not on neurological soft signs. As far as working memory concerns there was a significant difference between the OCD depressed and non-depressed groups. But we found no evidence that the neuropsychological functions such as cognitive flexibility, problem solving and spatial perception in OCD to be attributable to comorbid depression. The pattern of neuropsychological deficits in this sample of OCD patients is suggestive of orbito-frontal as well as dorsolateral prefrontal cortical dysfunction.
文摘The aims were: (1) to study verbal communication skills presenting with verbal communication deficits by applying the MEC in HIV-1 patients, and (2) to analyze the proportion of patients Protocol. The authors evaluated 20 patients over 18 years of age HIV-1 positive; native speakers of Spanish; without alterations in language acquisition, reading, writing or history of neurological or psychiatric disease; patients undergoing antiretroviral treatment (not efavirenz) with viral load 〉 50 copies/mL, and patients not undergoing treatment. Their verbal communication abilities were evaluated with Protocol MEC. The results demonstrate that some of the skills evaluated are more vulnerable in HIV-1 patients. The tasks that showed the most frequent and systematic deficits among patients were discourse-level tasks and those that evaluate lexical semantic processing. The authors compared patients' performances with the "cut-off'. The scores were turned into score Z. A hierarchic cluster analysis was carried out to identify subgroups with different profiles according to the areas that were affected. The detection of communication deficit profiles in HIV-1 patients would be the starting point for the identification of disorders and the admission of the patients to health care system. This research constitutes an initial approach towards the identification of clinical profiles among HIV-1 patients.
基金supported by the National Natural Science Foundation of China(NSFC)(Nos.82001221 and 81788101)the National Key Research and Development Program of China(Nos.2022YFC2703900 and 2022YFC2703903)the CAMS Innovation Fund for Medical Sciences(CIFMS)(Nos.2021-I2M-1-018,2022-I2M-JB-004 and 2017-I2M-B&R-05).
文摘Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and medicine.Panoramic variation analysis is imperative to analyze the disease phenotypes resulting from multilocus genomic variation.Here,a Pakistani family with parental consanguinity was presented,characterized with severe intellectual disability(ID),spastic paraplegia,and deafness.Homozygosity mapping,integrated single nucleotide polymorphism(SNP)array,whole-exome sequencing,and whole-genome sequencing were performed,and homozygous variants in TMEM141(c.270G>A,p.Trp90^(*)),DDHD2(c.411+767_c.1249-327del),and LHFPL5(c.250delC,p.Leu84^(*))were identified.A Tmem141^(p.Trp90^(*)/p.Trp90^(*))mouse model was generated.Behavioral studies showed impairments in learning ability and motor coordination.Brain slice electrophysiology and Golgi staining demonstrated deficient synaptic plasticity in hippocampal neurons and abnormal dendritic branching in cerebellar Purkinje cells.Transmission electron microscopy showed abnormal mitochondrial morphology.Furthermore,studies on a human in vitro neuronal model(SH-SY5Y cells)with stable shRNA-mediated knockdown of TMEM141 showed deleterious effect on bioenergetic function,possibly explaining the pathogenesis of replicated phenotypes in the cross-species mouse model.Conclusively,panoramic variation analysis revealed that multilocus genomic variations of TMEM141,DDHD2,and LHFPL5 together caused variable phenotypes in patient.Notably,the biallelic loss-of-function variants of TMEM141 were responsible for syndromic ID.
文摘Orthorexia nervosa (ON) describes a fixation for proper nutrition and healthy foods that leads to die-tary restrictions and nutritional deficiencies over time. Given symptom overlap among ON, obsessive-compulsive disorder (OCD), and anorexia nervosa (AN), this study examines whether ON has a unique neuropsychological profile. Participants completed symptom checklists and neuropsychological tests chosen for their sensitivity to AN and OCD. Results showed that, across the full sample, ON is independently associated with self-reported weaknesses in Set-Shifting, Emotional Control, Self-Monitoring, and Working Memory. After controlling for AN and OCD variables, high- and low-ON groups differed in total correct trials on the Wisconsin Card Sorting Test. These areas of executive functioning, which are explained in the context of ON symptomatology, represent what would be considered the neuropsychological overlap among OCD and AN profiles.