Autism Severity Scores Research Articles

Clinical, cognitive, and functional characteristics of recent-onset psychosis with autistic features: A 2-year longitudinal study

Though categorized as separate illnesses, schizophrenia and autism are known to exhibit shared characteristics. This study explored the distinctions in clinical, cognitive, and functional characteristics among individuals with recent-onset psychosis, considering the severity of their autistic symptoms, involving longitudinal examinations. We analyzed 671 patients with recent-onset psychosis from Korean Early Psychosis Cohort Study (KEPS), and used the PANSS Autism Severity Score (PAUSS) to categorize patient into ‘autistic’, ‘moderate’, and ‘non-autistic’ groups. The autistic group had the highest rate of schizophrenia diagnosis, and the lowest incidence of comorbid psychiatric disorders. Schizophrenia diagnosis predicted membership of the autistic group. More severe autistic symptoms correlated with worse overall symptoms and functional outcomes, which significantly predicted membership of the autistic group. Cognitive impairments and emotional recognition difficulties increased with the severity of autistic symptoms. 2-year longitudinal assessments demonstrated that group differences in autistic features and overall symptoms, and functional outcomes remained consistent, and membership of the autistic group significantly predicted symptomatic remission and functional recovery. In conclusion, the presence of autistic symptoms has a significant impact on the overall symptomatology and functional capabilities. They are enduring attributes rather than temporary state variables, and serve as a significant predictor for both symptomatic and functional recovery.

Are There Sex Differences in the Prevalence and Severity of Early-Stage Trauma-Related Stress in Mildly Impaired Autistic Children and Adolescents?

There is some evidence that autistic children experience more traumatic events than non-autistic children, but little research attention has been given to sex differences on this issue. This study investigated the presence of sex-based differences in the occurrence and severity of trauma-related events and resultant stress in autistic youth, and tested the null hypothesis of no sex differences. A sample of 32 autistic males and 32 autistic females (6 yr to 18 yr), plus one of their parents, participated in a survey study of (a) the presence of a traumatic event and ongoing stress regarding that event, and (b) recurrent memories or dreams of that event. Although the autistic children rated their experience of trauma, plus their recurrent memories or dreams of that event, as more severe than their parents did, neither of these sources of information showed any significant sex differences in the total score or diagnostic frequency for trauma-related stress. There were no significant correlations between age, IQ, or autism severity and trauma-related stress scores for the autistic males or females. These results challenge the generalizability of the prevalence of sex differences in trauma-related stress that has been reported in the wider community, arguing that equal attention should be given to male and female autistic youth for this possible comorbidity.

PDDBI and ADOS-2 autism severity scores are correlated but yield discrepant levels of severity across assessment sites

BackgroundPrevious studies have indicated significant associations between the severity of PDDBI composite T-scores and ADOS severity. However, significant correlations do not necessarily indicate similar absolute levels of severity which can vary with informants and with how cases are ascertained across diagnostic sites. MethodsThe relationships between the Comparison Score (CS) measure of autism severity from the ADOS-2 and Composite T-scores from the PDD Behavior Inventory (PDDBI) were examined across parent and teacher informants from cases seen at a tertiary diagnostic center (n = 157) and, for parent informants, an additional site - a diagnostic/treatment center (n = 104), which provides services that attracted cases with comorbid medical and behavioral concerns. ResultsAcross informants, CS scores were more strongly correlated with the PDDBI composite scores assessing social communication abilities (EXSCA/C) and overall autism severity (AUTISM/C) than with the composite score assessing repetitive and ritualistic behaviors (REPRIT/C) with mean severity levels of REPRIT/C and AUTISM/C slightly, but significantly, higher for teachers. Across centers, correlations between PDDBI composite scores and CS were very similar. However, while average CS scores were more severe at the tertiary center, PDDBI AUTISM/C scores were more severe at the diagnostic/treatment center solely due to higher REPRIT/C severity T-scores, likely related to their greater rates of comorbid issues. ConclusionsThese results indicate the importance of using a variety of assessment tools when making diagnostic and treatment decisions and assessing outcome with repetitive and ritualistic behaviors particularly sensitive to ascertainment factors.

Autistic features and executive functions in first episode psychosis: Associations with functionality and quality of life.

The present study aimed at investigating the relationships between autistic features and cognitive deficits, functionality and quality of life in first episode psychosis (FEP) patients. Sixty FEP patients [mean age (SD)=32.53 (10.74), n=23 female, n=37 male] were enrolled in this cross-sectional study. Data was collected using a sociodemographic and clinical data form, the Positive and Negative Syndrome Scale (PANSS), the PANSS Autism Severity Score (PAUSS), the Personal and Social Performance Scale (PSP), the Frontal Assessment Battery (FAB), and the World Health Organization Quality of Life Scale Short Form in Turkish Version (WHOQOL-BREF TR). Autistic symptom severity was found to be higher in males than females, and higher in patients with a family history of psychotic disorder. An inverse relationship was found between the duration of education and the severity of autistic symptoms. While there was an inverse relationship between autistic symptom severity and executive functions and functionality, no significant correlation was found with quality of life. Negative symptom severity was a predictor of executive functions and functionality. No significant difference was observed between autistic and psychotic domains which were related to executive functions. Our study is the first to examine the relationship between autistic/psychotic symptoms and executive functions and functionality in patients with FEP. The results show that autistic symptoms are associated with worse social and personal functioning and worse executive functions in patients with FEP. Longitudinal follow-up studies with larger samples are required to determine the direction of the relations.

The Impact of Speaker Diarization on DNN-based Autism Severity Estimation.

This paper presents a speech-based system for autism severity estimation combined with automatic speaker diarization. Speaker diarization was performed by two different methods. The first used acoustic features, which included Mel-Frequency Cepstral Coefficients (MFCC) and pitch, and the second used x-vectors - embeddings extracted from Deep Neural Networks (DNN). The speaker diarization was trained using a Fully Connected Deep Neural Network (FCDNN) in both methods. We then trained a Convolutional Neural Network (CNN) to estimate the severity of autism based on 48 acoustic and prosodic features of speech. One hundred thirty-two young children were recorded in the Autism Diagnostic Observation Schedule (ADOS) examination room, using a distant microphone. Between the two diarization methods, the MFCC and Pitch achieved a better Diarization Error Rate (DER) of 26.91%. Using this diarization method, the severity estimation system achieved a correlation of 0.606 (Pearson) between the predicted and the actual autism severity scores (i.e., ADOS scores). Clinical Relevance- The presented system identifies children's speech segments and estimates their autism severity sc30:310ore.

Autistic symptomatology in UHR patients: A preliminary report

Several studies have evaluated the level of autistic symptomatology in schizophrenia patients (SCZ) and ultra-high risk for psychosis (UHR) patients, but the data are not conclusive. Using the PANSS Autism Severity Score (PAUSS) scale, we found that the degree of autistic symptomatology in UHR patients is significantly lower compared to SCZ patients but higher than in patients with a mood disorder. Moreover, we found a significant correlation between autistic symptomatology and the severity of formal thought disorders, confirming Bleuler's hypothesis about autism and association disorders as core features of psychosis.

Elevated symptoms of executive dysfunction predict lower adaptive functioning in 3-year-olds with autism spectrum disorder.

Executive functioning (EF) deficits co-occur frequently with autism spectrum disorder (ASD) and have a long-term detrimental impact on quality of life of children and their families. Timely identification of risk for EF vulnerabilities may hasten access to early intervention and alleviate their long-term consequences. This study examines (1) if EF deficits are elevated in toddlers with ASD compared to nonautistic siblings of children with ASD, typically developing (TYP) toddlers, and toddlers with atypical developmental presentation; and (2) if EF deficits have a detrimental effect on adaptive functioning in ASD. Participants were recruited between September 2014 and October 2019 and included 73 toddlers with ASD, 33 nonautistic siblings of children with ASD, 35 toddlers with atypical development, and 28 TYP toddlers matched on chronological age (M=39.01 months, SD=3.11). EF deficits were measured using the BRIEF-P; adaptive skills were measured using the VABS-II. Whenever appropriate, analyses were controlled for MSEL verbal and nonverbal developmental quotient, ADOS-2 autism severity scores, and sex. Analyses revealed that toddlers with ASD exhibited elevated BRIEF-P scores across all domains compared to each of the three comparison groups. Higher BRIEF-P scores were associated with lower adaptive social, communication, and daily living skills while controlling for symptom severity, verbal and nonverbal functioning, and sex. In conclusion, marked vulnerabilities in EF are already present in 3-year-old toddlers with ASD and are predictive of the level of adaptive functioning in ASD. EF vulnerabilities in toddlers should be targeted for intervention to improve long-term outcomes in ASD. LAY SUMMARY: Many children with autism experience vulnerabilities in executive functioning (EF), which may include challenges with inhibition, working memory, cognitive flexibility, and planning. The study shows that these vulnerabilities can already be detected at age three and that their presence is linked with lower social, communication, and daily living skills. Screening children with ASD for EF challenges and helping those who have difficulties may improve their long-term outcomes.

Autistic Symptoms in Schizophrenia: Impact on Internalized Stigma, Well-Being, Clinical and Functional Characteristics

Autism Spectrum Disorders (ASD) symptoms and internalized stigma (or self-stigma) can have a negative impact on cognitive and functional outcomes in people living with schizophrenia. Aim of the present study were to assess and compare internalized stigma, subjective well-being and other socio-demographic, clinical and functional characteristics in people diagnosed with schizophrenia with and without prominent autistic features. Ninety-four inpatients were assessed with measures of internalized stigma, subjective well-being, global clinical severity, schizophrenia symptoms severity, real-world functioning, medication side effects and attitude toward prescribed medications. Subjects with high levels of ASD symptoms were identified with the PANSS Autism Severity Score and compared to other participants. Predictors of prominent ASD features were also assessed. Thirteen patients showed prominent ASD symptoms. They were characterized by fewer years of education, worse real-world functioning and greater symptoms severity. No between-group differences were observed regarding subjective well-being and global internalized stigma severity; however, participants in the “autistic schizophrenia” group showed better stigma resistance. A worse clinical condition and fewer years of education emerged as predictors of autistic schizophrenia. Despite showing a more severe clinical presentation of the disorder and worse functional impairment, participants with prominent ASD symptoms do not present worse subjective well-being or more severe internalized stigma; on the contrary, they show better stigma resistance. ASD symptoms could therefore play a protective role in the internalization of stigma.

Gastrointestinal Symptoms in 2- to 5-Year-Old Children in the Study to Explore Early Development.

Gastrointestinal symptoms (GIS) are commonly reported in children with autism spectrum disorder (ASD). This multi-site study evaluated the prevalence of GIS in preschool-aged children with ASD/(n = 672), with other developmental delays (DD)/(n = 938), and children in the general population (POP)/(n = 851). After adjusting for covariates, children in the ASD group were over 3 times more likely to have parent-reported GIS than the POP group, and almost 2 times more likely than the DD group. Children with GIS from all groups had more behavioral and sleep problems. Within the ASD group, children with developmental regression had more GIS than those without; however, there were no differences in autism severity scores between children with and without GIS. These findings have implications for clinical management.

Categorical and Dimensional Approaches to Examining the Joint Effect of Autism and Schizotypal Personality Disorder on Sustained Attention.

IntroductionAccumulating evidence for the co-occurrence autism spectrum disorder (ASD) and schizotypal personality disorder (SPD) at both the diagnostic and symptom levels raises important questions about the nature of their association and the effect of their co-occurrence on the individual’s phenotype and functional outcome. Research comparing adults with ASD and SPD, as well as the impact of their co-occurrence on outcomes is extremely limited. We investigated executive functioning in terms of response inhibition and sustained attention, candidate endophenotypes of both conditions, in adults with ASD, SPD, comorbid ASD and SPD, and neurotypical adults using both categorical and dimensional approaches.MethodsA total of 88 adults (Mean Age = 37.54; SD = 10.17): ASD (n = 26; M/F = 20/6); SPD (n = 20; M/F = 14/6); comorbid ASD and SPD (n=9; M/F=6/3) and neurotypicals (n=33; M/F=23/10) completed the Sustained Attention to Response Task (SART) in both its fixed and random forms. Positive and autistic symptom severity was assessed with the positive subscale of the Positive and Negative Syndrome Scale (PANSSpos) and the PANSS Autism Severity Score (PAUSS), respectively.ResultsControlling for full scale IQ, working memory and medication dosage, group analyses revealed that the comorbid group committed fewer omission errors than the ASD group on the fixed SART, and fewer omission errors than the ASD and SPD groups on the random SART. The individual difference analyses of the entire sample revealed that the PANSSpos and PAUSS interactively reduced omission errors in both the fixed and random SARTs, as well as increased d’ scores, indicative of improved overall performance. We observed no significant results for commission errors or reaction time.ConclusionsConcurrent elevated levels of autistic and positive psychotic symptoms seem to be associated with improved sustained attention abilities (reduced omission errors) but not inhibition (commission errors). Our findings highlight the importance of investigating the concurrent effect of ASD and SPD at both the symptom and diagnostic levels, and raise important questions for future research regarding the clinical and behavioral phenotypes of adults with dual diagnosis and, more generally, about the nature of the relationship between ASD and SPD.

T113. CATEGORICAL AND DIMENSIONAL APPROACHES EXAMINING THE JOINT EFFECT OF AUTISM AND SCHIZOTYPAL PERSONALITY DISORDER ON SUSTAINED ATTENTION

BackgroundAccumulating evidence for the co-occurrence Autism spectrum disorder (ASD) and schizotypal personality disorder (SPD) at both the diagnostic and symptom/trait levels raises important questions about the nature of their association and the effect of their co-occurrence on the individual’s phenotype and functional outcome. It has been recommend that informing etiological and phenotypic overlaps between ASD and schizophrenia spectrum disorders (SSD) would require the utilization of a dual-diagnosis cohort compared with two control groups, each singly diagnosed with ASD or SSD, and that the development of a multidimensional model for understanding the relationship between these two spectra would require cohorts to be described not solely by diagnosis, but also by using dimensional measures that cut across diagnostic boundaries. Research comparing adults with ASD and SPD, as well as the impact of their co-occurrence on outcomes is extremely limited. To fill in this gap, we investigated executive functioning in terms of response inhibition and sustained attention, candidate endophenotypes of both conditions, in adults with ASD, SPD, comorbid ASD and SPD, and neurotypical adults using both categorical and dimensional approaches.MethodsA total of 88 adults (Mean Age ± SD = 37.54 ± 10.17): ASD (n = 26; m/f = 20/6); SPD (n = 20; m/f = 14/6); comorbid ASD and SPD (n=9; m/f =6/3) and neurotypicals (n=33; m/f =23/10) completed the Sustained Attention to Response Task (SART) in both its fixed and random forms.Individuals with ASD had a DSM-IV diagnosis of either autism or Asperger Syndrome and met ASD cut-offs on the Autism Diagnostic Observational Schedule-Generic (ADOS-G). All individuals with SPD met DSM-IV criteria for SPD using the Structured Clinical Interview for DSM-IV Axis II Disorders (SCID-II). Individuals in the comorbid group met criteria for both ASD (determined by DSM-IV and the ADOS) and SPD (determined by the SCID-II). In addition, in both the clinical and healthy participants, positive and autistic symptom severity were assessed with the positive subscale of the Positive and Negative Syndrome Scale (PANSSpos) and the PANSS Autism Severity Score (PAUSS), respectively.ResultsControlling for full scale IQ, working memory and medication dosage, group analyses revealed that the comorbid group committed fewer omission errors than the ASD group on the fixed SART, and fewer omission errors than the ASD and SPD groups on the random SART. The individual difference analyses revealed that the PANSSpos and PAUSS interactively reduced omission errors in both the fixed and random SARTs, as well as increased d’ scores, indicative of improved overall performance.DiscussionConcurrent elevated levels of autistic and positive psychotic symptoms seem to be associated with improved sustained attention abilities. We propose that sustaining and switching attention may represent two poles of irregularities across the autism and schizotypal spectra, which appear to converge in a compensatory manner in the comorbid group. Our findings highlight the importance of investigating the concurrent effect of ASD and SPD at both the symptom and diagnostic levels, and the potential benefit of this research approach to understanding the underlying mechanisms of seemingly overlapping phenotypes.

Risk assessment test for MAR ASD: a subtype of Autism

Abstract Background Autism spectrum disorder (ASD) is an important health issue and affects 1 in 59 children in the US. Prior studies found that maternal autoantibody related autism (MAR ASD) is thought to be responsible for ~20% of ASD cases. We aimed to create a robust assay to identify ASD-specific autoantibody patterns of reactivity against the previously identified brain antigens CRMP1, CRMP2, GDA, LDHA, LDHB, NSE, STIP1, and YBOX1 in the blood of mothers whose children have ASD and determine their relationship with ASD behavioral outcome. Methods We obtained plasma enrolled in the CHARGE study from mothers of children diagnosed with ASD (n=481) and control mothers of typically developing children (TD, n=377). Maternal plasma was probed against the eight antigens by ELISA and WB. We then determined patterns of reactivity that had a strong association with ASD by permutation analysis. Results We found several ASD specific patters of reactivity (positives for several antigens) in 16% of the ASD samples and 0% in the TD group. From those, 4 patterns of reactivity were statistically significant using Fisher’s exact test 0.05% showing a significant association of having autoantibodies against a combination of those antigens and a higher risk of having a child with MAR ASD. Also, preliminary studies indicate a positive correlation between having reactivity to multiple antigens and higher Autism Severity Scores (ADOS composite). Conclusion We developed the first risk assessment test to predict ASD with 100% specificity based on reactivity to different combinations of brain antigens. We are currently working on the development of multiple MAR ASD animal models.

Autistic symptoms predict social cognitive performance in patients with schizophrenia.

Schizophrenia spectrum disorders and Autism Spectrum Disorders (ASD) share many similarities. Among those features, social cognitive impairment is recognized as a key characteristic of both ASD and schizophrenia. In this study, the role of ASD symptoms, measured with the PANSS Autism Severity Score (PAUSS), was investigated as a predictor of social cognitive performance in patients with Schizophrenia spectrum disorders. Existent databases from 2 studies (SCOPE Phase 3 and SCOPE Phase 5), in which a total of 361 patients (mean age 41.7 years; 117 females) were assessed with tests of mental state attribution and emotion recognition, were analyzed. Less severe ASD symptoms, as well as younger age, better premorbid IQ, and neurocognition were identified as individual predictors of better social cognitive performance. These results suggest a role of ASD symptoms in affecting social cognitive performance in schizophrenia.

Enhanced perioperative management of children with autism: a pilot study

When children with autism spectrum disorder (ASD) are in hospital, difficulties with socialization, communication, and behaviour can be exacerbated. The purpose of this study was to establish feasibility of an enhanced perioperative care pathway. Utilizing parental and provider feedback, a protocol including environment modification, anxiolysis plans, specialized order sets, and child life specialist (CLS) support was developed over a nine-month period. Autism severity scores (ASS), communication styles, triggers, and previous experiences were used to create individualized care plans in the preoperative clinic. Emotion and sedation scores in the same day surgery unit, at anesthesia induction, and in the postanesthesia care unit were recorded. Acceptance was obtained from nurses, anesthesiologists, and parents. Feasibility criteria included the recruitment rate, adherence to protocol, data collection, and patient follow-up. Eighteen patients were enrolled in this pilot study. All feasibility criteria including recruitment, adherence to study protocol (97%), and follow-up (94%) were met. Fifteen (83%) patients were nonverbal and minimally interactive (ASS = 3). Common triggers were loud noises (78%), crowds (78%), and bright lights (56%). After implementation of the protocol, 15 (83%) of the anesthetic inductions were described as excellent. Ten different premedication plans were used. Parents described the personalized plan, anxiolysis medication, and CLS support as advantageous. All (100%) nurses, anesthesiologists, and parents felt the program should continue. We showed that a multidisciplinary perioperative care plan for children with severe ASD was feasible and 100% accepted at our institution. The individual nature of anxiolysis plans was considered a strength of the protocol.

The interactive effect of autism and psychosis severity on theory of mind and functioning in schizophrenia.

Autism and schizophrenia are characterized by impairments in social cognition and functioning. They can co-occur at both the trait/symptom and diagnostic levels. We investigated the concurrent effect of autism and psychotic symptom severity on social cognition and functioning in schizophrenia. Individuals with schizophrenia or schizoaffective disorder were included (N = 81; 32 women). Symptoms were measured with the Positive and Negative Syndrome Scale using the Positive subscale (PANSSpos; Kay, Fiszbein, & Opler, 1987) and the PANSS Autism Severity Score (PAUSS; Kästner et al., 2015). Theory of mind (ToM) was assessed with the Movie for the Assessment of Social Cognition (MASC; Dziobek et al., 2006), which yields scores for three error types: overmentalizing, undermentalizing, and no mentalizing. Functioning was assessed with the Global Assessment of Functioning (GAF-f; Pedersen, Hagtvet, & Karterud, 2007) and the Social Functioning Scale (SFS; Birchwood, Smith, Cochrane, Wetton, & Copestake, 1990). The sample was bimodally distributed and therefore divided into low and high PAUSS groups. We used generalized linear models to examine the effect of PANSSpos, PAUSS, and their interaction on GAF-f, SFS, and MASC scores. For the entire cohort, the PANSSpos × PAUSS interaction was significantly associated with better GAF-f (p = .005), SFS (p = .029), and overall ToM (p = .035), and for the high-PAUSS group, with reduced overmentalizing errors (p = .002), resulting in better overall ToM. Concurrent elevated levels of autism and positive psychotic symptoms seem to benefit functioning and social cognition in schizophrenia. The results are consistent with the diametric model, which posits that autism and schizophrenia are characterized by opposing patterns in mentalizing, and promote the radical idea that the presence of both disorders may be associated with attenuated impairments. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

Cognitive and behavioral differences in toddlers with autism spectrum disorder from multiplex and simplex families.

Prospective, longitudinal designs utilizing "high-risk" infant siblings of children diagnosed with Autism Spectrum Disorder (ASD-sibs) have provided unique and valuable insights regarding the early ASD phenotype. However, it remains unclear whether these cases are representative of all children with ASD. The objective in the present study was to investigate whether the early development of toddlers with ASD from multiplex (MPX) families, who have an affected older sibling, is similar or different to toddlers with ASD from simplex (SPX) families, where there is no affected sibling. A further aim was to examine patterns of association between autism symptom severity and cognitive functioning within each group to inform possible mechanisms for group similarities/differences. Behavioral and cognitive assessment data from a sample of toddlers with ASD was utilized, comprising 45 MPX, 127 first-born SPX, and 72 later-born SPX toddlers. Participants in the MPX group had significantly higher developmental quotients on the Mullen Scales of Early Learning compared to those in the SPX groups, who did not differ from each other. However, all three groups were similar on their autism severity scores (measured using the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview), and the pattern of relationships between cognitive ability and autism symptom severity. The results suggest that caution be exercised in generalizing findings from ASD-sib samples to other samples of children with ASD. The higher cognitive abilities in the MPX group, in addition to biological differences, may also be an outcome of family environmental factors, which deserves further investigation. Autism Research 2019, 12: 682-693. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We sought to establish whether toddlers with autism from families where there is more than one affected child, called multiplex families, are different to children from simplex families, where there is only one affected child, and no other members within the immediate family with an autism diagnosis. We found that while toddlers from multiplex families were similar to those from simplex families in their autism symptoms, they were more developmentally advanced than children in the latter group.

Hierarchical Multi-Geodesic Model for Longitudinal Analysis of Temporal Trajectories of Anatomical Shape and Covariates.

Longitudinal regression analysis for clinical imaging studies is essential to investigate unknown relationships between subject-wise changes over time and subject-specific characteristics, represented by covariates such as disease severity or a level of genetic risk. Image-derived data in medical image analysis, e.g. diffusion tensors or geometric shapes, are often represented on nonlinear Riemannian manifolds. Hierarchical geodesic models were suggested to characterize subject-specific changes of nonlinear data on Riemannian manifolds as extensions of a linear mixed effects model. We propose a new hierarchical multi-geodesic model to enable analysis of the relationship between subject-wise anatomical shape changes on a Riemannian manifold and multiple subject-specific characteristics. Each individual subject-wise shape change is represented by a univariate geodesic model. The effects of subject-specific covariates on the estimated subject-wise trajectories are then modeled by multivariate intercept and slope models which together form a multi-geodesic model. Validation was performed with a synthetic example on a S 2 manifold. The proposed method was applied to a longitudinal set of 72 corpus callosum shapes from 24 autism spectrum disorder subjects to study the relationship between anatomical shape changes and the autism severity score, resulting in statistics for the population but also for each subject. To our knowledge, this is the first longitudinal framework to model anatomical developments over time as functions of both continuous and categorical covariates on a nonlinear shape space.

Lower-extremity rotational profile and toe-walking in preschool children with autism spectrum disorder.

The aim of this study was to establish the torsional and toe-walking profiles of children with autism spectrum disorder (ASD), and to analyze the correlations between torsion, toe-walking, autism severity score, and age. In total, 79 consecutive children with autism were examined to determine their hip rotations, thigh-foot angle, degree of toe-walking, and autism severity. Femoral and tibial torsion values, of the preschool patients, were compared statistically with age-matched controls. The hip rotation profile of the patients was similar to the normal group. Nearly a half of the patients with ASD present excessive external tibial torsion. The difference in the tibial torsion between patients and normal children was statistically significant. A weak correlation was found only between tibial torsion and the autism severity score, but no correlation was found between the other parameters. External tibial torsion is the cardinal and persistent orthopedic manifestation among patients with ASD. Toe-walking is the second most common such manifestation and is an independent orthopedic feature in these patients. External tibial torsion may potentially contribute toward the described gait abnormalities in patients with ASD.

Looking through autistic features in schizophrenia using the PANSS Autism Severity Score (PAUSS)

Autism spectrum disorder (ASD) and schizophrenia share several features. However, the assessment of ASD in schizophrenia is difficult. Aim of this study is to investigate the possibility to use the PANSS Autism Severity Score (PAUSS) to recognize autistic features in schizophrenia. The PAUSS was administered to 75 patients with schizophrenia, previously assessed with ASD diagnostic scales. PAUSS total scores were higher in patients with ASD, compared to those without ASD. Patients with PAUSS score higher than the cut-off proposed for ASD showed specific neuropsychological and functional characteristics. The PAUSS may be useful to identify patients with schizophrenia autistic features.

Excitation-inhibition dysbalance as predictor of autistic phenotypes

Autistic traits are normally distributed across health and disease, with autism spectrum disorders (ASD) at the extreme end. As we learned from mutations of synaptic or synapse regulating genes, leading to monogenetic forms of autism, the heterogeneous etiologies of ASD converge at the synapse. They result in a mild synaptic dysfunction as the final common pathway, also addressed as synaptopathy. Based on genetic rodent models and EEG/MEG findings in autists, a neuronal excitation-inhibition dysbalance is considered autism-pathognomonic. We hypothesized that this objectively measurable consequence is not restricted to the diagnosis of ASD but transcends disease borders and is of quantitative rather than qualitative nature. For proof-of-principle, we conducted a transcranial magnetic stimulation (TMS) study, monitoring corticospinal excitability and intracortical inhibition of the motor cortex. Employing the GRAS data collection of N > 1200 deep-phenotyped schizophrenic subjects, we had the chance to select for this study N = 20 perfectly matched men. They differed highly significantly by autistic trait severity, as assessed using PANSS autism severity score (PAUSS), capturing the continuum of autistic behaviors. Applying TMS to these men, we provide first intriguing hints of a positive correlation of autistic phenotype severity with functional cortical correlates, mainly alterations in GABAergic system and ion channels. This ‘dose-response relationship’ between severity of autistic traits and excitation-inhibition ratio in non-ASD subjects underlines the biological basis of this continuous trait. Based on these data, TMS may evolve as new add-on biomarker of autistic traits across disease groups. Finally, common treatment strategies targeting the excitation-inhibition dysbalance in humans may develop. To ultimately achieve this goal, however, replication studies with larger numbers of individuals would be desirable.