Impaired Communication Abilities Research Articles

Gender differences in geriatric depressive symptoms in urban China: the role of ADL and sensory and communication abilities.

ADL and Sensory and Communication Abilities are important indicators of the quality of life of the elderly which are significant determinants of health, particularly in developing countries. The present cross-sectional study investigated effect of ADL and Sensory and Communication Abilities on depressive symptoms, as well as the the role of gender in these effects. This is a cross-sectional study. A nationally representative cross-sectional survey among the Chinese population aged 60 years and over. A total of 163296 females and 148724 males aged 65 and over in 2019 in urban China. Prevalence, risk factors and gender differences in geriatric depressive symptoms among urban elderly. Approximately 95.69% of the participants had depressive symptoms according to the CESD-10, with no statistically significant gender difference of 52.15% in females and 47.85% in males. Logistic regression findings suggest that geriatric depressive symptoms are significantly associated with the lack of eldercare (OR=2.427, female; OR=1.426, male), living alone(OR= 1.430, female; OR= 1.179, male), ADL dysfunction (OR=1.528, female; OR=1.246, male), and impaired sensory and communication ability (OR=1.338, female; OR=1.185, male) among both female and male participants. Remarkably, geriatric depressive symptoms are only significantly associated with age (≥75, OR = 1.327), marital status (unmarried, OR=1.598), the number of children (no children, OR=2.271), and the living arrangement (living alone, OR= 1.430) among female participants. Significant gender differences in these associations were found for living alone, ADL dysfunction and impaired sensory and communication ability. Moreover, the study emphasized that the gender difference exists in terms of geriatric depression in urban China. Females are more likely to experience depressive than males with the same circumstances.

Autism Spectrum Disorder with Epilepsy: A Research Protocol for a Clinical and Genetic Study.

Autism spectrum disorder (ASD) is a common neurodevelopmental condition affecting ~1% of people worldwide. Core ASD features present with impaired social communication abilities, repetitive and stereotyped behaviors, and atypical sensory responses and are often associated with a series of comorbidities. Among these, epilepsy is frequently observed. The co-occurrence of ASD and epilepsy is currently thought to result from common abnormal neurodevelopmental pathways, including an imbalanced excitation/inhibition ratio. However, the pathological mechanisms involved in ASD-epilepsy co-morbidity are still largely unknown. Here, we propose a research protocol aiming to investigate electrophysiological and genetic features in subjects with ASD and epilepsy. This study will include a detailed electroencephalographic (EEG) and blood transcriptomic characterization of subjects with ASD with and without epilepsy. The combined approach of EEG and transcriptomic studies in the same subjects will contribute to a novel stratification paradigm of the heterogeneous ASD population based on quantitative gene expression and neurophysiological biomarkers. In addition, our protocol has the potential to indicate new therapeutic options, thus amending the current condition of absence of data and guidelines for the treatment of ASD with epilepsy.

Impaired communication ability in SOX11 syndrome.

Speech and language skills are important for social interaction and learning. This study characterised the communication abilities of verbal individuals with SOX11 syndrome using a standardised parent/carer questionnaire, the Children's Communication Checklist (CCC-2). Thirteen parent/carers of verbal individuals (aged 5-19years) diagnosed with SOX11 syndrome completed the CCC-2. In order to contextualise findings, responses were compared to norms and to data from Noonan syndrome, a relatively well-known genetic diagnosis associated with communication impairment. For all individuals, the CCC-2 composite score indicated significant communication difficulties. Language structure (speech, syntax, semantics and coherence), pragmatic language (inappropriate initiation, stereotyped language use of context and non-verbal communication) and autistic features (social relations and interests) scores were lower than typically developing norms. Subscale comparisons revealed relative difference in use of context compared to other pragmatic domains (stereotyped language and inappropriate initiation). Individual scores showed substantial variation, particularly in regard to language structure profile. Differences were more pronounced than for Noonan syndrome, specifically in domains of speech, syntax, non-verbal communication and social relations. SOX11 syndrome is associated with communication impairment. It is important to assess communication abilities as part of the management of individuals with SOX11 syndrome and understand individual strengths and difficulties in order to provide targeted support.

Distributed VR using VIRTOOLS on AD patients from the perspective of social psychology

BackgroundAutism is a neurodevelopmental disorder characterized by impaired social interaction, communication abilities, and repetitive behavior. With the development of technology, virtual reality (VR) technology has brought new possibilities for treating autism. This study aims to explore the positive impact of VIRTOOLS distributed virtual reality technology on autism patients from a sociopsychological perspective.Subjects and Methods This study comprised a cohort of 80 patients diagnosed with autism, with ages ranging from 6 to 18 years. A six-month structured training program was implemented utilizing a distributed virtual reality (VR) application developed using VIRTOOLS. The program encompassed simulated training for social interaction, emotion recognition, and fundamental daily life skills. To evaluate the effectiveness, pre- and post-training comparisons were made using standardized autism assessment tools and social interaction assessments. The data generated from the experiment were subjected to statistical analysis employing SPSS 24.0.Results Compared with before training, the study subjects showed significant improvements in social interaction, emotional recognition, and daily life skills after training (P<0.01). Among them, 70% of participants’ social skills improved, and 60% performed more accurately in emotion recognition tasks.ConclusionsFrom the perspective of social psychology, utilizing VIRTOOLS-based distributed VR technology provides a safe and controlled environment for patients with autism, helping them improve their social interaction and communication skills. This technology offers a promising new approach to treating and rehabilitating patients with autism.AcknowledgementTargeted Talents Training Project (No. 20230106722).

Beyond Language Deficits: Working Alliance and Resources as Predictors of Recovery From Aphasia.

Large-scale clinical trials and meta-analyses have determined neurobiological and linguistic predictors of recovery from aphasia, while more recent work is opening the field to factors of efficacy previously established in psychiatry-and little known in neurology. To map this evolving area of research, the present essay explores key factors of efficacy in psychotherapy as potential predictors of recovery from aphasia. In particular, the essay addresses (1) working alliance, including consensus between patient and therapist on treatment goals and tasks alongside interpersonal bonds, as well as (2) focus on resources rather than deficits in language performance. Finally, the essay outlines why research on impaired communication ability may help advance and complement existing methods in psychotherapy.

Shared pattern of impaired social communication and cognitive ability in the youth brain across diagnostic boundaries

BackgroundAbnormalities in brain structure are shared across diagnostic categories. Given the high rate of comorbidity, the interplay of relevant behavioural factors may also cross these classic boundaries. MethodsWe aimed to detect brain-based dimensions of behavioural factors using canonical correlation and independent component analysis in a clinical youth sample (n = 1732, 64 % male, age: 5–21 years). ResultsWe identified two correlated patterns of brain structure and behavioural factors. The first mode reflected physical and cognitive maturation (r = 0.92, p = .005). The second mode reflected lower cognitive ability, poorer social skills, and psychological difficulties (r = 0.92, p = .006). Elevated scores on the second mode were a common feature across all diagnostic boundaries and linked to the number of comorbid diagnoses independently of age. Critically, this brain pattern predicted normative cognitive deviations in an independent population-based sample (n = 1253, 54 % female, age: 8–21 years), supporting the generalisability and external validity of the reported brain-behaviour relationships. ConclusionsThese results reveal dimensions of brain-behaviour associations across diagnostic boundaries, highlighting potent disorder-general patterns as the most prominent. In addition to providing biologically informed patterns of relevant behavioural factors for mental illness, this contributes to a growing body of evidence in favour of transdiagnostic approaches to prevention and intervention.

Role of melatonin in autism spectrum disorders in a male murine transgenic model: Study in the prefrontal cortex.

Autism spectrum disorders (ASDs) are a group of clinically heterogeneous neurodevelopmental disorders sharing common features related to impaired social and communication abilities in addition to stereotyped behaviors. ASD patients present encephalic morphological, physiological, and biomolecular alterations with low levels of melatonin due to alterations in its pathways. Therefore, even if ASDs have traditionally been framed as behavioral disorders, several lines of evidence are accumulating that ASDs are characterized by certain anatomical and physiological abnormalities, including oxidative stress and inflammation in peripheral biomarkers, but likewise present in human brain tissue also characterized by alterations in synaptic remodeling and neuromodulation. Melatonin has also protective and antioxidant properties, so we can therefore hypothesize that alterations in melatonin's pathways may be one of the causes of the symptomatology of autism. The aim of the present study was to analyze the beneficial effect induced by melatonin administration and its possible mechanism of action in a transgenic mouse model of autism, immediately after weaning. The male mice were daily treated per os with melatonin (10mg/Kg/day) or vehicle for 8weeks starting from the sixth week of life. The antioxidant modulation, the GABAergic/glutamatergic impairment, and the synaptic remodeling in the prefrontal cortex have been evaluated. Social and repetitive behaviors were also evaluated. The behavioral results showed no statistical evidences, instead the immunohistochemical results indicated the ability of melatonin to promote the activity of antioxidant system, the GABAergic/glutamatergic equilibrium, and the synaptic remodeling. The results show that melatonin may be a possible adjuvant therapeutic strategy in ASDs.

Suicidality in Individuals with Schizoid Personality Disorder or Traits: A Clinical Mini-Review of a Probably Underestimated Issue.

Schizoid personality disorder (SZPD) is a Cluster A personality disorder whose essential feature is a lifelong pattern of detachment from social relationships and a restricted range of emotional expression. Although SZPD has been in every edition of the Diagnostic and Statistical Manual of Mental Disorders, empirical research on this disorder is actually limited, due to the fact that SZPD is rarely encountered in clinical settings. In fact, individuals with SZPD rarely present for treatment, as their isolation is often ego-syntonic; therefore, the prevalence of SZPD is not clearly established. Suicide ideation may be a running theme for individuals with SZPD. However, suicidality in SZPD is actually an underestimated topic. Aiming to draw more attention to this underestimated issue, with this paper the authors intend to provide a list of studies on suicidality in individuals with SZPD or traits, in the form of a clinical mini-review. Reported studies show that an underlying SZPD, or the presence of schizoid traits too, appear to be definitely a major risk factor for completed suicide and serious suicide attempts. This maladaptive personality disorder seems to not allow the individual to ask for help and to deny him the comforts of intimacy. Therefore, clinicians should be aware that schizoid traits suchs as solitary lifestyle, loneliness, emotional detachment, and impaired communication ability, are features associated with a vulnerability to suicidal behavior. We recommend the clinical assessment of this symptoms' constellation, in order to address patients with SZPD to most proper treatment.

Discriminative Dictionary Learning for Autism Spectrum Disorder Identification.

Autism Spectrum Disorder (ASD) is a group of lifelong neurodevelopmental disorders with complicated causes. A key symptom of ASD patients is their impaired interpersonal communication ability. Recent study shows that face scanning patterns of individuals with ASD are often different from those of typical developing (TD) ones. Such abnormality motivates us to study the feasibility of identifying ASD children based on their face scanning patterns with machine learning methods. In this paper, we consider using the bag-of-words (BoW) model to encode the face scanning patterns, and propose a novel dictionary learning method based on dual mode seeking for better BoW representation. Unlike k-means which is broadly used in conventional BoW models to learn dictionaries, the proposed method captures discriminative information by finding atoms which maximizes both the purity and coverage of belonging samples within one class. Compared to the rich literature of ASD studies from psychology and neural science, our work marks one of the relatively few attempts to directly identify high-functioning ASD children with machine learning methods. Experiments demonstrate the superior performance of our method with considerable gain over several baselines. Although the proposed work is yet too preliminary to directly replace existing autism diagnostic observation schedules in the clinical practice, it shed light on future applications of machine learning methods in early screening of ASD.

Clinician and Consumer Perspectives on Gender-Affirming Voice Services

A significant portion of the transgender, nonbinary, and gender-expansive community experiences gender-related voice issues. However, barriers exist to accessing gender-affirming voice care, and most existing voice research does not include the gender-nonbinary population. Our study aimed to examine transgender, nonbinary, and gender-expansive consumer/potential consumer (hereafter referred to as consumer) engagement and compare/contrast consumer and speech-language pathologist perspectives on gender-affirming voice services. A secondary aim was to assess possible voice impairments in transgender, nonbinary, and gender-expansive individuals. Two surveys were distributed via listservs for SLPs and flyers and social media posts for consumers. Surveys included items regarding experience with and accessibility of gender-affirming voice services and clinician competence. Consumers and clinicians answered the same questions from their respective positions. Consumers additionally completed the Voice Handicap Index-10 (VHI-10). Forty-eight consumer and 54 clinician responses were collected. Twenty (41.7%) consumers were trans women, 15 (31.2%) were trans men, 12 (25%) were gender-nonbinary, and one (2.1%) was gender fluid.VHI-10 responses were in the abnormal range for 61.4% of consumers, and 68.8% indicated desire to receive gender-affirming voice services, including 58.3% of gender-nonbinary respondents. However, only 6.25% of consumers considered themselves as having a voice disorder and 29.2% reported that their voice impairs communication. In contrast, 24.1% of clinicians felt consumers seeking gender-affirming voice services have a voice disorder and 51.2% felt they have an impaired communication ability. Consumers indicated positive perceptions of voice services/providers but reported a variety of barriers to access. SLPs indicated mixed confidence in accessibility of services. Both groups perceived an affordability barrier. This study demonstrates the desire and need for gender-affirming voice services and is the first to our knowledge to explicitly include gender-nonbinary individuals' perspectives on them. Understanding how consumer and clinician perspectives differ can help focus provider efforts in improving experiences with, access to, and visibility of gender-affirming voice services.

Prognostic factors for recovery of aphasia after acute ischemic stroke—a review

Introduction : Stroke, as defined by the World Health Organization, is the rapid development of clinical signs of focal brain dysfunction lasting more than 24 hours or leading to death for no reason other than vascular origin. Subarachnoid hemorrhage is not included. Aphasia is a common symptom of stroke. The improvement of aphasia takes place mainly within the first 3 months. The four main components of the classical aphasic syndrome are: comprehension, repetition, naming, and fluency. Understanding usually indicates earlier and complete recovery and is essential for basic communication. Nevertheless, persistent, albeit less pronounced, impaired communication ability remains a major problem for the individual patient with aphasia. Materials and Methods : The article has summarized information from different databases like Google Scholar and reviewed the factors influencing the recovery of aphasia after acute ischemic stroke. Results: The factors that really affect recovery are the initial severity of aphasia, which is inextricably linked to the size and location of the lesion. Conclusion: Stroke is the leading cause of long-term disability in Western countries and the functional outcome depends on the severity of the stroke. The initial severity of aphasia affects the recovery of language functions.

The Study of Spatial Safety and Social Psychological Health Features of Deaf Children and Children with an Intellectual Disability in the Public School Environment Based on the Visual Access and Exposure (VAE) Model.

Nowadays, there is increasing attention towards the safety and feelings of children in urban or architectural space. In this study, the authors suggest a new approach based on the Visual Access and Exposure (VAE) Model to evaluate the spatial safety and social psychological health features of deaf children and children with an intellectual disability in the public school environment. The authors present a preliminary study of deaf children and children with an intellectual disability in a primary school located in Deyang by measuring the visual exposure and visual access in the public environment. The results illustrate that there are a few spaces, such as a long corridor and the space behind the elevators, that are not very safe for deaf children and children with an intellectual disability. In terms of social psychosocial preference, this special group prefers to stay in low visual access areas, which may be influenced by their introverted and impaired social communication ability. This study could have implications for the existence and optimization of an architecture design for relevant groups. With the increase in school bullying incidents and public psychological health problems related to youth, this approach could be used widely in the area of school safety and public psychological health management.

Leveraging Linguistic Context in Dyadic Interactions to Improve Automatic Speech Recognition for Children

Automatic speech recognition for child speech has been long considered a more challenging problem than for adult speech. Various contributing factors have been identified such as larger acoustic speech variability including mispronunciations due to continuing biological changes in growth, developing vocabulary and linguistic skills, and scarcity of training corpora. A further challenge arises when dealing with spontaneous speech of children involved in a conversational interaction, and especially when the child may have limited or impaired communication ability. This includes health applications, one of the motivating domains of this paper, that involve goal-oriented dyadic interactions between a child and clinician/adult social partner as a part of behavioral assessment. In this work, we use linguistic context information from the interaction to adapt speech recognition models for children speech. Specifically, spoken language from the interacting adult speech provides the context for the child’s speech. We propose two methods to exploit this context: lexical repetitions and semantic response generation. For the latter, we make use of sequence-to-sequence models that learn to predict the target child utterance given context adult utterances. Long-term context is incorporated in the model by propagating the cell-state across the duration of conversation. We use interpolation techniques to adapt language models at the utterance level, and analyze the effect of length and direction of context (forward and backward). Two different domains are used in our experiments to demonstrate the generalized nature of our methods - interactions between a child with ASD and an adult social partner in a play-based, naturalistic setting, and in forensic interviews between a child and a trained interviewer. In both cases, context-adapted models yield significant improvement (upto 10.71% in absolute word error rate) over the baseline and perform consistently across context windows and directions. Using statistical analysis, we investigate the effect of source-based (adult) and target-based (child) factors on adaptation methods. Our results demonstrate the applicability of our modeling approach in improving child speech recognition by employing information transfer from the adult interlocutor.

Existing Mobile Phone Apps for Self-Care Management of People With Alzheimer Disease and Related Dementias: Systematic Analysis.

BackgroundAlzheimer disease and related dementias (AD/RD) are progressive neurocognitive disorders that currently affect approximately 50 million people worldwide. Mobile phone apps have been well-integrated into daily lives and can be used to deliver and promote health care. There is an increase in the use of technology to provide care and support to AD/RD patients and their families.ObjectiveThis study aimed to review apps designed for AD/RD patients and analyze the benefits of, and challenges to, such technological solutions.MethodsA systematic approach was applied to review the availability, content, features, and quality of mobile phone apps to support self-care among AD/RD patients.ResultsThe initial search for this review was conducted in January 2019, and the screening and analysis of the included apps were completed in May 2019. A total of 14 apps were included from an initial search of 245 apps. The top 3 features were alert (9/14, 64%), self-care tips (6/14, 42%), and social networking capacity (5/14, 35%). On average, the readability of the apps was a tenth-grade reading level (SD 3.06). The overall quality was 3.71 out of 5 (SD 1.37).ConclusionsOur findings suggest that currently available apps for AD/RD patients may not meet complex needs and may be challenging to use, given the possible impaired communication ability associated with AD/RD. Therefore, high-quality apps need to be developed and rigorously evaluated for feasibility and efficacy.

Management of a Child with Reactive Attachment Disorder in the Dental Clinical Setting: A Case Report

Reactive attachment disorder (RAD) is an early childhood mental health disease characterized by impaired social interactions and communication abilities, and neurological deficits in the child’s developing brain. This disorder can significantly affect the pediatric patient’s behavior in the dental setting. An uncooperative 9-year-old Mexican girl, who was residing in a temporary home, was referred by a general dental practitioner to the Postgraduate Pediatric Dental Clinic with her caretaker, requesting dental examination and treatment. The patient presented with a previous diagnosis of RAD with intellectual/social disability. With the psychiatrist’s guidance, an exhaustive oral prophylaxis was carried out in the initial appointments, followed by diverse restorative treatments under the continuous application of behavioral management techniques. These restorative procedures included resin restorations and pit-fissure sealants, under local anesthesia and rubber-dam isolation, on the first four permanent molars. The entire treatment was completed in six weeks. The patient and her caretaker were provided with detailed educational and motivational strategies for improving the patient´s oral hygiene, and they also received nutritional advice. For control reviews and the reinforcement of preventive habits, future appointments were carefully scheduled. An interdisciplinary pediatric collaboration between the dentist, nurse, and psychiatrist was fundamental for improving the patient’s oral health and general welfare.

Dissociations in the neural substrates of language and social functioning in autism spectrum disorder.

Impairments in social communication (coupled with intact nonsocial language skills) are common in autism spectrum disorder (ASD). However, the neural correlates of these social communication deficits in adolescents and young adults with ASD are not fully understood. The communication checklist self-report (CC-SR) was administered to adolescents and young adults with ASD (n = 52) and typically developing (TD) controls (n = 64) to assess structural-language, pragmatic-language, and social-engagement. One high-resolution T1-weighted structural image was obtained from each participant. FreeSurfer was used to quantify cortical thickness. A main effect of diagnosis, with the ASD group performing worse than the TD group on all three CC-SR scales, and a diagnosis by scale interaction, driven by low social-engagement self-ratings in the ASD group, were found. There were also group differences in the relationship between scores on two of the three CC-SR scales and cortical thickness in multiple regions (pragmatic-language: left rostral frontal; social-engagement: left medial prefrontal). These interactions were driven by poorer self-ratings of language/social skills associated with decreased cortical thickness in the ASD group, while in the TD group worse self-ratings were associated with thicker cortex. Self-ratings of language/social-communication were lower in the ASD than the TD group. Moreover, language/social-communication self-ratings showed a different relationship with cortical thickness for the ASD and TD groups in the left inferior frontal region for pragmatic language ratings and the left medial prefrontal cortex for social engagement ratings. These findings suggest thinner cortex is associated with more impaired pragmatic language and social communication abilities in ASD. Autism Res 2018, 11: 1175-1186. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The present study examines the associations between brain structure and language/social communication ability in adolescents and young adults with autism spectrum disorder (ASD) as compared to neurotypical adolescents and young adults. We utilized thickness of the cerebral cortex as a measure of brain structure, and we found different correlations between language or social communication ability and cortical thickness in distinct regions for the ASD and TD groups. These findings suggest that for regions implicated in language/social communication ability, decreased cortical thickness is associated with more impaired pragmatic language and social communication abilities in ASD.

Visual Communication Board – Bridge for Communication between Patient and Nurse

Nurses as healthcare professionals focus on serving needs of humanity. Nurses face difficulty while communicating and giving care to patients with impaired communication abilities or compromised communication status. Nursing personnel should look forward to ways of improving patient care by developing communication skills and technical skills to help patients in fulfillment of their needs leading to satisfaction of both the patient and the nurse. Also, hospital administration can enhance patient satisfaction by introducing visual communication board in care of patients with compromised communication. Visual communication board can serve as a bridge for communication between the patient and the nurse, if it is readily available and nurses possess skills to use it.

PSYCHOMETRIC EVALUATION OF THE ‘READING THE MIND IN THE EYES’ TEST WITH SAMPLES OF DIFFERENT AGES FROM A POLISH POPULATION

IntroductionThe 'Reading the Mind in the Eyes' Test (RMET) is a test of the Theory of Mind (ToM), the ability to infer the states of minds of other people (Baron-Cohen, 2001). ToM includes the recognition of emotional information from the face, voice, and body (TagerFlusberg & Sullivan, 1994). Theory of Mind allows for the acquiring of knowledge about other people and for constructing ideas about what people think and feel. The ToM allows for the constructing of beliefs about other people, making it easier to understand another person's motives and intensions (Baron-Cohen, 2001). The key aspect of the ToM is an ability to take the perspective of other persons, which is what makes this theoretical construct close to cognitive empathy (Philips et al., 2002).The human face is one of the most important social stimuli with which we deal every day. From the emotional expression on a face, we are able to assess whether a person is friendly or hostile, and we can infer a wide range of mental states. These inferences enable a rapid response in different social situations (Itier & Batty, 2009). The eye area is the most important area of the face in allowing others to recognize facial expressions and their underlying emotions (Baron-Cohen, 1994). We devote more time to the eye area than to other parts of the face (Itier, Villate, & Ryan, 2007; McKelvie, 1976; Fraser, Craig, & Parker, 1990; Itier & Batty, 2009; Althoff & Cohen, 1999; Baron-Cohen, Baldwin, & Crowson, 1997). Other studies also supported the neural basis of this behavior. The superior temporal sulcus (STS) and the superior temporal gyrus (STG) specialize in the perception of the eyes and face. Both are activated by the visual stimuli of the eyes during performance on the RMET (BaronCoh en, Ring, Wh eel wr i gh t , Bullmore, Brammer, Simmons, & Williams, 1999; Itier, Alain, Sedore, & McIntosh, 2007; Moor, Op de Macks, Guroglu, Rombouts, Van der Molen, & Crone, 2012).Eyes and gaze play an important role in social interactions. Avoiding or failing to maintain eye contact and difficulty in joint attention (Baron-Cohen, 1987) are associated with impaired social communication and impaired ability to read the mental states of others, which occur commonly in people with autism (Baron-Cohen, Jolliffe, Mortimore, & Robertson, 1997).The original version of the RMET was developed for adults in 1997 and was subsequently modified by adding more response options and improving the psychometric properties of the tool (Baron-Cohen, Jolliffe et al., 1997; Baron-Cohen et al., 2001). The test consists of 36 questions concerning choosing the right emotion or thought corresponding to a particular pair of eyes shown on a picture. A greater proportion of correct answers corresponds to a higher test score.The RMET assesses the ability to read emotional states of other people from the expression around their eyes (Baron-Cohen, Wheelwright, Hill, Raste, & Plumb, 2001). This tool was created to identify subtle deficits in autism and Asperger 's syndrome (Baron-Cohen et al., 2001). Currently, RMET is often applied to study individual differences such as sexual or age differences in the ToM (Baron-Cohen et al., 2001, and Bailey et al., 2008, respectively). The results revealed that women score higher in the original RMET than men (e.g., Baron-Cohen et al., 2001). These findings seem related to the results of the research, which has shown that empathy is more developed in women than in men (Goldenfeld et al., 2005; Baron-Cohen, Richler, Bisarya, Gurunathan, & Wheelwright, 2003; Geary et al., 1998; MaCoby et al., 1999). From earliest infancy, girls spend more time looking at faces, particularly the eyes, whereas boys turn their attention to moving objects (Connellan, Baron -Coh en, Wheel wr i ght , Batki, & Ahluwalia, 2008). Women interpret all nonverbal messages more accurately on the basis of facial expression (e. …

Glutamate synapses in human cognitive disorders.

Accumulating data, including those from large genetic association studies, indicate that alterations in glutamatergic synapse structure and function represent a common underlying pathology in many symptomatically distinct cognitive disorders. In this review, we discuss evidence from human genetic studies and data from animal models supporting a role for aberrant glutamatergic synapse function in the etiology of intellectual disability (ID), autism spectrum disorder (ASD), and schizophrenia (SCZ), neurodevelopmental disorders that comprise a significant proportion of human cognitive disease and exact a substantial financial and social burden. The varied manifestations of impaired perceptual processing, executive function, social interaction, communication, and/or intellectual ability in ID, ASD, and SCZ appear to emerge from altered neural microstructure, function, and/or wiring rather than gross changes in neuron number or morphology. Here, we review evidence that these disorders may share a common underlying neuropathy: altered excitatory synapse function. We focus on the most promising candidate genes affecting glutamatergic synapse function, highlighting the likely disease-relevant functional consequences of each. We first present a brief overview of glutamatergic synapses and then explore the genetic and phenotypic evidence for altered glutamate signaling in ID, ASD, and SCZ.

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of cobalamin metabolism leading to impairment of the remethylation of homocysteine to methionine. Information on clinical and laboratory data at initial full assessment and during the course of the disease, treatment, outcome and quality of life was obtained in a survey-based, retrospective study from physicians caring for patients with the CblE or CblG defect. In addition, data on enzyme studies in cultured skin fibroblasts and mutations in the MTRR and MTR gene were analysed. In 11 cblE and 13 cblG patients, failure to thrive, feeding problems, delayed milestones, muscular hypotonia, cognitive impairment and macrocytic anaemia were the most frequent symptoms. Delay in diagnosis depended on age at first symptom and clinical pattern at presentation and correlated significantly with impaired communication abilities at follow-up. Eighteen/22 patients presented with brain atrophy or white matter disease. Biochemical response to treatment with variable combinations of betaine, cobalamin, folate was significant. The overall course was considered improving (n = 8) or stable (n = 15) in 96% of patients, however the average number of CNS symptoms per patient increased significantly over time and 16 of 23 patients were classified as developmentally delayed or severely handicapped. In vitro enzyme analysis data showed no correlation with outcome. Predominantly private mutations were detected and no genotype- phenotype correlations evident. The majority of patients with the cblE and cblG defect show limited clinical response to treatment and have neurocognitive impairment.