Deficits In Verbal Communication Research Articles

Neuroimmune mechanisms in autism etiology - untangling a complex problem using human cellular models.

Autism spectrum disorder (ASD) affects 1 in 36 people and is more often diagnosed in males than in females. Core features of ASD are impaired social interactions, repetitive behaviors and deficits in verbal communication. ASD is a highly heterogeneous and heritable disorder, yet its underlying genetic causes account only for up to 80% of the cases. Hence, a subset of ASD cases could be influenced by environmental risk factors. Maternal immune activation (MIA) is a response to inflammation during pregnancy, which can lead to increased inflammatory signals to the fetus. Inflammatory signals can cross the placenta and blood brain barriers affecting fetal brain development. Epidemiological and animal studies suggest that MIA could contribute to ASD etiology. However, human mechanistic studies have been hindered by a lack of experimental systems that could replicate the impact of MIA during fetal development. Therefore, mechanisms altered by inflammation during human pre-natal brain development, and that could underlie ASD pathogenesis have been largely understudied. The advent of human cellular models with induced pluripotent stem cell (iPSC) and organoid technology is closing this gap in knowledge by providing both access to molecular manipulations and culturing capability of tissue that would be otherwise inaccessible. We present an overview of multiple levels of evidence from clinical, epidemiological, and cellular studies that provide a potential link between higher ASD risk and inflammation. More importantly, we discuss how stem cell-derived models may constitute an ideal experimental system to mechanistically interrogate the effect of inflammation during the early stages of brain development.

Psychological development on the positive psychology of autistic students

BackgroundAutism is a neurodevelopmental disorder characterized by social interaction and verbal communication deficits. Students with autism face various psychological difficulties in the college environment, such as social difficulties, emotional fluctuations, and limited cognitive function. This study aims to help autistic students develop their psychology and improve their quality of life.Subjects and MethodsThis study tried to carry out psychological extension training in college sports, and 50 students with autism were set as research objects. Half of the students received psychological extension training in the physical education course, and the other half received traditional behavioral intervention therapy in the physical education course. Both groups of students received one semester of therapeutic training. Results SPSS23.0 software was used for psychological data correlation statistics, P>0.5 indicated strong correlation and P<0.5 indicated medium weak correlation.Results The experimental results showed that after one semester of treatment training, the number of autistic students in the experimental group was reduced to 12. The overall mental state was good, and the cultivation of positive psychology was more effective. At the same time, the average test score was higher. However, the number of students with autism in the control group remained high at about 20, and the P-value was still greater than 0.5.ConclusionsThe psychological development training proposed in this study can provide theoretical and practical guidance for cultivating autistic students’ positive psychology to improve their overall mental health level.

0035 Enrichment of RAI1 genetic aberrations associated with sleep disturbances in SMS, in Autism Spectrum Disorder

Abstract Introduction Autism Spectrum Disorder (ASD) comprises a complex of neurodevelopmental disorders primarily characterized by deficits in verbal communication, impaired social interactions and repetitive behaviors. The profound clinical heterogeneity of ASD poses challenges in diagnosis and treatment. Genetic studies have pointed to hundreds of presumptive causative or susceptibility variants in ASD, making it difficult to find common underlying pathogenic mechanisms and suggesting that multiple different genetic etiologies for ASDs influence a continuum of traits. Smith–Magenis syndrome is a rare genetic disorder that results from an interstitial deletion of 17p11.2 and, in rare cases, from a retinoic acid induced 1 (RAI1) gene variant. The prevalence is estimated to be 1/15,000–25,000. Haploinsufficiency of RAI1 is the primary cause of the neurobehavioral and metabolic phenotype in SMS. Individuals with SMS present with a distinct pattern of mild to moderate intellectual disability, delayed speech and language skills, distinctive craniofacial and skeletal abnormalities, behavioral disturbances, and, almost uniformly, significant sleep disturbances. Alterations in RAI1 copy number has been also linked to a number of neurodevelopmental disorders including ASD. Methods We conducted a large-scale association analysis of the ASD MSSNG whole genome sequencing data to elucidate the prevalence of RAI1 SNVs and CNVs in the ASD population. We accessed the MSSNG database hosting over 11,000 genomes (6080 probands) and queried both SNVs and CNVs. Results Specifically, we focused on the prevalence of the classic deletions, microdeletions of (exon 3) and of the causative variants. We report a single case of a classic deletion (17p11.2 critical region), and an additional 3 cases of microdeletions in exon 3. Moreover, we report 2 frameshift mutations and one splicing variant. Given that the frequency of SMS is 1 in 15000 in the general population, we observe a 2.5x enrichment of the major deletion (1 in 6080 samples) and a >5x enrichment of the frameshift variants (2 in 6080 samples). In a set of 6080 probands we also observed 54 unique missense variants in 84 individuals within exon 3 of RAI1 gene. Conclusion Both ASD patients and SMS patients suffer from sleep disturbances. In this population of individuals with ASD, we report here an enrichment of variants known to cause SMS. We estimate the enrichment to be at least 2.5-fold and potentially higher than 10-fold enrichment, considering the types of variants observed in the population. Currently, the prevailing theory is that there is an underlying circadian pathophysiology causing sleep disturbances in SMS associated with RAI1 haploinsufficiency, as these patients exhibit low overall melatonin concentrations and abnormal timing of peak plasma melatonin concentrations. This abnormal inverted circadian rhythm is estimated to occur in 95% of individuals with SMS. The sleep disturbance seen in individuals with SMS may be also the underlying mechanism in at least a subset of individuals with ASD, especially in those individuals with consequential variants in the RAI1 gene Further studies will help delineate the role of RAI1 variants in sleep physiology. Support (If Any)

Recognizing Psychosis in Autism Spectrum Disorder.

There is strong evidence for the existence of a high comorbidity between autism and psychosis with percentages reaching up to 34. 8% and several significant implications for treatment and prognosis of these patients. However, the identification of comorbid psychosis in patients with Autism Spectrum Disorder represents a complex challenge from a psychopathological point of view, in particular in patients with greater deficits in verbal communication. Intercepting the onset of a psychotic breakdown in autism may be very difficult, both disorders in fact occur along a phenotypic continuum of clinical severity and in many cases, psychotic symptoms are present in an attenuated form. In this paper, we reviewed the available scientific literature about comorbidity between psychosis and autism, focusing our attention on four specific dimensions: delusions, hallucinations, negative symptoms, and clinical course. The aim of this paper is to provide clinical tools to identify these psychotic phenomena in autistic patients, even when they occur in their attenuated form.

Clinical characteristics and neuroimaging findings of seven patients with Dyke Davidoff Masson syndrome

BackgroundDDMS is a rare disease diagnosed by clinical and radiological characteristics. But the complexity of radiological and clinical manifestations of DDMS has become a challenge diagnostically. To date, the reported cases with DDMS had highly varied clinical manifestations including seizures, contralateral hemiplegia/hemiparesis, facial asymmetry, mental retardation, etc. In addition to typical clinical findings, some new characteristics have been recently added to the spectrum of DDMS. However, few cases have been reported to be associated with neuropsychiatric symptoms according to the literature. This study aimed to investigate the neuropsychiatric manifestations associated with Dyke-Davidoff-Masson syndrome (DDMS) and related imaging findings.MethodsThis study included 7 patients diagnosed with DDMS between 2014 and 2020. The clinical characteristics, neuropsychiatric manifestations, and radiological results were retrospectively evaluated.ResultsSeven patients (five males and two females) with a mean age of 28.0 ± 9.73 (range 15.0–41.0) years were included. Five patients were admitted to the psychiatric unit due to psychological and behavioral disorders. Two patients were referred to the neurology unit mainly due to epilepsy. Six patients had epileptic seizures, 4 had hemiplegia, 3 had mental retardation, 2 patients had external ear deformities, and 2 had facial asymmetry. Neuropsychiatric symptoms were presented in 6 (85.7 %) cases. Cases 2–6 developed affective disorders. Deficits in verbal communication, impairment of social interaction, lack of insight, adulia and hypobulia appeared in cases 1–4. Schizophrenia with apathy, and epileptic schizoid psychosis were observed in cases 4 and 5 respectively. Case 6 had behavioral disorders, hyperactivity, tic disorder, mental retardation, anxiety, catatonic symptoms and suicidal tendency. Case 7 had seizures and mental retardation, and no psychiatric symptoms were presented. Radiological examinations showed unilateral cerebral atrophy, enlarged lateral ventricles, and various compensatory hypertrophy of the skull in all cases. The midline structure has shifted to the affected side in 5(71.4 %) cases. Atrophy of the basal ganglia or brain stem was observed in 4(57.1 %) cases.ConclusionsThe hallmark imaging manifestations of DDMS facilitated the diagnosis in most cases. This study illustrated that a variety of psychoneurotic disorders and ear abnormalities were correlated with DDMS.

A Test for the Assessment of Pragmatic Abilities and Cognitive Substrates (APACS): Normative Data and Psychometric Properties

The Assessment of Pragmatic Abilities and Cognitive Substrates (APACS) test is a new tool to evaluate pragmatic abilities in clinical populations with acquired communicative deficits, ranging from schizophrenia to neurodegenerative diseases. APACS focuses on two main domains, namely discourse and non-literal language, combining traditional tasks with refined linguistic materials in Italian, in a unified framework inspired by language pragmatics. The test includes six tasks (Interview, Description, Narratives, Figurative Language 1, Humor, Figurative Language 2) and three composite scores (Pragmatic Productions, Pragmatic Comprehension, APACS Total). Psychometric properties and normative data were computed on a sample of 119 healthy participants representative of the general population. The analysis revealed acceptable internal consistency and good test-retest reliability for almost every APACS task, suggesting that items are coherent and performance is consistent over time. Factor analysis supports the validity of the test, revealing two factors possibly related to different facets and substrates of the pragmatic competence. Finally, excellent match between APACS items and scores and the pragmatic constructs measured in the test was evidenced by experts' evaluation of content validity. The performance on APACS showed a general effect of demographic variables, with a negative effect of age and a positive effect of education. The norms were calculated by means of state-of-the-art regression methods. Overall, APACS is a valuable tool for the assessment of pragmatic deficits in verbal communication. The short duration and easiness of administration make the test especially suitable to use in clinical settings. In presenting APACS, we also aim at promoting the inclusion of pragmatics in the assessment practice, as a relevant dimension in defining the patient's cognitive profile, given its vital role for communication and social interaction in daily life. The combined use of APACS with other neuropsychological tests could also improve our understanding of the cognitive substrates of pragmatic abilities and their breakdown.

Autism traits in children and adolescents with Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a cohesinopathy causing delayed growth and limb deficits. Individuals with CdLS have mild to profound intellectual disability and autistic features. This study characterizes the behavioral phenotype of children with CdLS, focusing on autistic features, maladaptive behaviors, and impact of age. Children with CdLS (5-18 years) were administered normed instruments to characterize autism features (Childhood Autism Rating Scale, CARS), maladaptive behaviors (Aberrant Behavior Checklist), and adaptive skills (Vineland Adaptive Behaviors Scales). CdLS features and severity were rated with Diagnostic Criteria for CdLS. Forty-one children with CdLS (23 females, 18 males) were classified as having "no autism" (n = 7; 17.1%), "mild autism" (n = 17; 41.4%), and "severe autism" (n = 17; 41.4%), using CARS scores. Characteristic items were abnormal emotional response, stereotypies, odd object use, rigidity, lack of verbal communication, and low intellectual functioning. Verbal communication deficits and repetitive behaviors were higher compared to sensory, social cognition, and behavior abnormalities (P ≤ 0.0001). Maladaptive behaviors associated with autism traits were stereotypies (P = 0.003), hyperactivity (P = 0.01), and lethargy (P = 0.03). Activities of daily living were significantly affected; socialization adaptive skills were a relative strength. However, with advancing age, both socialization (P < 0.0001) and communication (P = 0.001) domains declined significantly. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. While other adaptive skills are impacted, socialization adaptive skills are less affected. Advancing age can worsen communication and socialization deficits relative to neurotypical peers.

Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients

Autism is a neurodevelopmental disorder clinically characterized by impairment of social interaction, deficits in verbal communication, as well as stereotypic and repetitive behaviors. Several studies have implicated that abnormal synaptogenesis was involved in the incidence of autism. Neuroligins are postsynaptic cell adhesion molecules and interacted with neurexins to regulate the fine balance between excitation and inhibition of synapses. Recently, mutation analysis, cellular and mice models hinted neuroligin mutations probably affected synapse maturation and function. In this study, four missense variations [p.G426S (NLGN3), p.G84R (NLGN4X), p.Q162 K (NLGN4X) and p.A283T (NLGN4X)] in four different unrelated patients have been identified by PCR and direct sequencing. These four missense variations were absent in the 453 controls and have not been reported in 1000 Genomes Project. Bioinformatic analysis of the four missense variations revealed that p.G84R and p.A283T were "Probably Damaging". The variations may cause abnormal synaptic homeostasis and therefore trigger the patients more predisposed to autism. By case-control analysis, we identified the common SNPs (rs3747333 and rs3747334) in the NLGN4X gene significantly associated with risk for autism [p = 5.09E-005; OR 4.685 (95% CI 2.073-10.592)]. Our data provided a further evidence for the involvement of NLGN3 and NLGN4X gene in the pathogenesis of autism in Chinese population.

Disruption of Contactin 4 in two subjects with autism in Chinese population

Autism is a heterogeneous childhood neurodevelopmental disorder that is characterised by deficits in verbal communication, impaired social interactions, restricted interests and repetitive behaviours. Using an Illumina HumanCNV370-Quad BeadChip, we identified two Han Chinese individuals with autism and large duplications (~1.6Mb and ~2.4Mb) disrupting the same CNTN4 gene. CNTN4 encodes a protein that functions as a cell-adhesion molecule and may play an essential role in the formation of axon connections in the developing nervous system. The disruption of this gene has been reported to be the cause of the 3p deletion syndrome and also a possible susceptibility factor for autism spectrum disorders (ASDs). Our results suggest that rare copy number variations (CNVs) in CNTN4 may also influence autism susceptibility in Asian populations. Interestingly, a comparison of the clinical phenotypes between the two subjects revealed that the subject with the 2.4Mb CNV (involving several other genes) presented with a more severe phenotype than the subject with the 1.6Mb CNV (disrupting only CNTN4 and CNTN6). This suggests that other genes in the nearby region may contribute to the pathogenesis.

Differences in Challenging Behaviors Between Children with High Functioning Autism and Asperger’s Disorder

A longstanding debate has existed as to whether High-Functioning Autism (HFA) and Asperger’s Disorder are dimensional versus distinct disorders. The impending changes to the upcoming Diagnostic and Statistical Manual of Mental Disorders have rejuvenated this debate as the autism spectrum disorders (ASD) are scheduled to be collapsed into one diagnosis. Challenging behaviors are prevalent within ASD but have seldom been examined with respect to differences between these groups. As such, the purpose of the current investigation was to examine challenging behavior differences between children with HFA, Asperger’s Disorder, and typical development, as well as the ability of verbal communication impairments to predict the presence of these challenging behaviors. Participants were 185 children ages 4 through 16 years who had been diagnosed with Autistic Disorder, Asperger’s Disorder, or typical development and who did not have comorbid intellectual disability. Their overall scores on the Autism Spectrum Disorder-Behavior Problems for Children were compared as were their individual behavior item scores. Children with HFA demonstrated the greatest amount of challenging behaviors in comparison to children with Asperger’s Disorder; however, these differences were not evident with respect to individual behavior items. Verbal communication deficits differed in a similar fashion, and verbal communication deficits were able to reliably predict the presence of challenging behaviors. The implications of these findings are discussed.

Genetics of autism spectrum disorders.

Autism is a group of etiology and clinical heterogeneous neurodevelopmental disorders with an onset before 3 years old. It has 3 core characteristics: deficits in verbal communication; impairment of social interaction; restricted interests and repetitive behaviors. The incidence is increasing over time worldwide. Twin and family studies have demonstrated that autism has a high heritability (>90%). Although certain progress of autism genetic study has been made in the last decades and several autism susceptibility genes and loci have been identified, there are still about 70%-80% of patients for whom an autism-related genetic change cannot be identified.

2p15–p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders

Reports of unrelated individuals with autism spectrum disorder (ASD) and similar clinical features having overlapping de novo interstitial deletions at 2p15-p16.1 suggest that this region harbors a gene(s) important to the development of autism. We molecularly characterized two such deletions, selecting two genes in this region, exportin 1 (XPO1) and orthodenticle homolog 1 (OTX1) for association studies in three North American cohorts (Autism Spectrum Disorder - Canadian American Research Consortium (ASD-CARC), New York, and Autism Genetic Resource Exchange (AGRE)) and one Italian cohort (Società Italiana per la Ricerca e la Formazione sull'Autismo (SIRFA)) of families with ASD. In XPO1, rs6735330 was associated with autism in all four cohorts (P<0.05), being significant in ASD-CARC cohorts (P-value following false discovery rate correction for multiple testing (P(FDR))=1.29 × 10(-5)), the AGRE cohort (P(FDR)=0.0011) and the combined families (P(FDR)=2.34 × 10(-9)). Similarly, in OTX1, rs2018650 and rs13000344 were associated with autism in ASD-CARC cohorts (P(FDR)=8.65 × 10(-7) and 6.07 × 10(5), respectively), AGRE cohort (P(FDR)=0.0034 and 0.015, respectively) and the combined families (P(FDR)=2.34 × 10(-9) and 0.00017, respectively); associations were marginal or insignificant in the New York and SIRFA cohorts. A significant association (P(FDR)=2.63 × 10(-11)) was found for the rs2018650G-rs13000344C haplotype. The above three SNPs were associated with severity of social interaction and verbal communication deficits and repetitive behaviors (P-values <0.01). No additional deletions were identified following screening of 798 ASD individuals. Our results indicate that deletion 2p15-p16.1 is not commonly associated with idiopathic ASD, but represents a novel contiguous gene syndrome associated with a constellation of phenotypic features (autism, intellectual disability, craniofacial/CNS dysmorphology), and that XPO1 and OXT1 may contribute to ASD in 2p15-p16.1 deletion cases and non-deletion cases of ASD mapping to this chromosome region.

Increased secreted amyloid precursor protein-α (sAPPα) in severe autism: proposal of a specific, anabolic pathway and putative biomarker.

Autism is a neurodevelopmental disorder characterized by deficits in verbal communication, social interactions, and the presence of repetitive, stereotyped and compulsive behaviors. Excessive early brain growth is found commonly in some patients and may contribute to disease phenotype. Reports of increased levels of brain-derived neurotrophic factor (BDNF) and other neurotrophic-like factors in autistic neonates suggest that enhanced anabolic activity in CNS mediates this overgrowth effect. We have shown previously that in a subset of patients with severe autism and aggression, plasma levels of the secreted amyloid-β (Aβ) precursor protein-alpha form (sAPPα) were significantly elevated relative to controls and patients with mild-to-moderate autism. Here we further tested the hypothesis that levels of sAPPα and sAPPβ (proteolytic cleavage products of APP by α- and β-secretase, respectively) are deranged in autism and may contribute to an anabolic environment leading to brain overgrowth. We measured plasma levels of sAPPα, sAPPβ, Aβ peptides and BDNF by corresponding ELISA in a well characterized set of subjects. We included for analysis 18 control, 6 mild-to-moderate, and 15 severely autistic patient plasma samples. We have observed that sAPPα levels are increased and BDNF levels decreased in the plasma of patients with severe autism as compared to controls. Further, we show that Aβ1-40, Aβ1-42, and sAPPβ levels are significantly decreased in the plasma of patients with severe autism. These findings do not extend to patients with mild-to-moderate autism, providing a biochemical correlate of phenotypic severity. Taken together, this study provides evidence that sAPPα levels are generally elevated in severe autism and suggests that these patients may have aberrant non-amyloidogenic processing of APP.

Psychiatric and psychosocial problems in adults with normal-intelligence autism spectrum disorders.

BackgroundIndividuals with autism spectrum disorders (ASDs) often display symptoms from other diagnostic categories. Studies of clinical and psychosocial outcome in adult patients with ASDs without concomitant intellectual disability are few. The objective of this paper is to describe the clinical psychiatric presentation and important outcome measures of a large group of normal-intelligence adult patients with ASDs.MethodsAutistic symptomatology according to the DSM-IV-criteria and the Gillberg & Gillberg research criteria, patterns of comorbid psychopathology and psychosocial outcome were assessed in 122 consecutively referred adults with normal intelligence ASDs. The subjects consisted of 5 patients with autistic disorder (AD), 67 with Asperger's disorder (AS) and 50 with pervasive developmental disorder not otherwise specified (PDD NOS). This study group consists of subjects pooled from two studies with highly similar protocols, all seen on an outpatient basis by one of three clinicians.ResultsCore autistic symptoms were highly prevalent in all ASD subgroups. Though AD subjects had the most pervasive problems, restrictions in non-verbal communication were common across all three subgroups and, contrary to current DSM criteria, so were verbal communication deficits. Lifetime psychiatric axis I comorbidity was very common, most notably mood and anxiety disorders, but also ADHD and psychotic disorders. The frequency of these diagnoses did not differ between the ASD subgroups or between males and females. Antisocial personality disorder and substance abuse were more common in the PDD NOS group. Of all subjects, few led an independent life and very few had ever had a long-term relationship. Female subjects more often reported having been bullied at school than male subjects.ConclusionASDs are clinical syndromes characterized by impaired social interaction and non-verbal communication in adulthood as well as in childhood. They also carry a high risk for co-existing mental health problems from a broad spectrum of disorders and for unfavourable psychosocial life circumstances. For the next revision of DSM, our findings especially stress the importance of careful examination of the exclusion criterion for adult patients with ASDs.

Common genetic variants on 5p14.1 associate with autism spectrum disorders

Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental and neuropsychiatric disorders characterized by deficits in verbal communication, impairment of social interaction, and restricted and repetitive patterns of interests and behaviour. To identify common genetic risk factors underlying ASDs, here we present the results of genome-wide association studies on a cohort of 780 families (3,101 subjects) with affected children, and a second cohort of 1,204 affected subjects and 6,491 control subjects, all of whom were of European ancestry. Six single nucleotide polymorphisms between cadherin 10 (CDH10) and cadherin 9 (CDH9)-two genes encoding neuronal cell-adhesion molecules-revealed strong association signals, with the most significant SNP being rs4307059 (P = 3.4 x 10(-8), odds ratio = 1.19). These signals were replicated in two independent cohorts, with combined P values ranging from 7.4 x 10(-8) to 2.1 x 10(-10). Our results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to our knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs.

Impacto de las lesiones del hemisferio derecho sobre las habilidades lingüísticas: perspectivas teórica y clínica

A lesion of the right hemisphere of right-handers can result in verbal communication impairments. The recent development of theoretical frameworks with regard to discourse and pragmatic abilities, among others, now allows us to recognize and describe these impairments. To offer an overview of the verbal communication deficits that can be found in right-hemisphere-damaged individuals. These deficits can interfere, at different levels, with prosody, the semantic processing of words and discourse and pragmatic abilities. Such impairments appear to be present in about half of right-hemisphere-damaged patients and, when present, can result in different clinical profiles. These deficits raise the question of their labeling and their relationship with aphasia. Given the evolution of the concept of language and the universal definition of aphasia, it is proposed that these deficits correspond to another manifestation of aphasia, thus challenging the idea that they are of a 'non-aphasic' nature.

Decreased prefrontal activation during letter fluency task in adults with pervasive developmental disorders: A near-infrared spectroscopy study

Functional neuroimaging studies have suggested that dysfunction of prefrontal cortex (PFC) is present in persons with pervasive developmental disorders (PDD). Recently, the development of near-infrared spectroscopy (NIRS) has enabled noninvasive bedside measurement of regional cerebral blood volume. Although NIRS enables the noninvasive clarification of brain functions in many psychiatric disorders, it has not yet been used to examine subjects with PDD. The aim of our study was to conduct an NIRS cognitive activation study to verify PFC dysfunction in PDD. The subjects were 10 adults with PDD and 10 age- and gender-matched healthy subjects. Hemoglobin concentration changes were measured with a 24-channel NIRS machine during the letter fluency task. While the number of words generated during the letter fluency task did not differ significantly between groups, the analysis of covariance including IQ as a confounding covariate showed that the PDD group was associated with bilateral reduction in oxy-hemoglobin concentration change as compared with the control group. The statistical results did not change when only IQ-matched high-functioning subjects ( N = 7) were included. Moreover, reduced oxy-hemoglobin concentration change for the right PFC was significantly correlated with verbal communication deficits within the PDD group. The present findings are consistent with proposed prefrontal dysfunction in PDD subjects identified by other neuroimaging modalities. The present results may be also potentially useful for applying NIRS to clinical settings of child psychiatry.

Gesture behavior in unmedicated schizotypal adolescents.

Schizotypal personality disorder is characterized by interpersonal and verbal communication deficits. Despite the important role of gesture in social communication, no published reports examine the use of gesture by individuals with SPD. In this study, raters code gesture from videotaped interviews of unmedicated adolescents with SPD, other personality disorders, or no Axis II disorder. Results indicate that SPD adolescents show significantly fewer gestures but do not differ from the other groups in overall rate of movement. The findings are discussed in light of brain regions involved in dysfunction, parallels to schizophrenia, and treatment implications.

Considering the Culture of Disability in Cultural Competence Education

Cultural competence extends beyond understanding those values, beliefs, and needs that are associated with patients' age or gender or with their racial, ethnic, or religious backgrounds. People hold many simultaneous cultural associations, and each have implications for the care process. The "culture of disability" is a pan-ethnic culture for which a set of physician competencies are required to ensure appropriate, culturally sensitive care to persons with congenital or acquired disabilities. Such competencies include communicating with patients who have deficits in verbal communication and avoidance of infantilizing speech; understanding the values and needs of persons with disabilities; the ability to encourage self-advocacy skills of patients and families; acknowledging the core values of disability culture including the emphasis on interdependence rather than independence; and feeling comfortable with patients with complex disabilities. Medical schools have developed programs to increase students' exposure to persons with disabilities and it is suggested that such programs are most effective when they are the result of collaboration with community-based facilities or organizations that serve persons with disabilities in the natural environment. Combining lecture-based instruction and structured experiences with the opportunity for students to interact with patients in their natural environments may facilitate development of competencies with respect to patients with disabilities. The culture of disability should be included as one of the many cultures addressed in cultural competence initiatives in medical school and residency curricula.

Development of a longitudinal study of complications and functional outcomes after traumatic brain injury

Primary objective : To create a longitudinal database of patients with moderate and severe traumatic brain injury. Research design : A prospective study design was used to collect data pertaining to demographics, acute and post-acute management, complications, resource utilization and functional outcomes. Methods and procedures : Data were collected on 233 patients with a Glasgow Coma Score of 12 or less, admitted to a Level 1 Trauma Centre within 24 hours of injury and continued through post-hospitalization follow-up. Main outcomes and results : The mean age was 37.7 years, 70% were males, 54% were motor vehicle related accidents, and 21% died. Of the 185 survivors, 23% were discharged directly home from acute hospital care and 74% required inpatient rehabilitation. At hospital discharge, 76% had Rancho Los Amigos Scores of VII or higher; 81% had no or only mild verbal communication deficits and 79% were able to ambulate. Conclusions : The study indicates that while it is difficult to predict functional outcomes for individual survivors of TBI in the early stages of acute care, they are often better than suspected at the time of injury.