Autistic Symptomatology Research Articles

Social Anxiety in Children and Adolescents With Autism Spectrum Disorders Contribute to Impairments in Social Communication and Social Motivation

BackgroundRecognition of symptoms of Social anxiety (SA) may be difficult among individuals with Autism Spectrum Disorders (ASD) because of overlap between social anxiety and autistic symptomatology. The main aim of our study was thus to explore the association between symptoms of social anxiety and clinical characteristics of ASD in order to identify individuals experiencing concomitant ASD and social anxiety disorder. We also described the prevalence of SA in a sample of children and adolescents with ASD.Method79 children and adolescents with ASD (with and without intellectual disability) and 28-matched control participants were recruited in two French Expert Centers for ASD, coordinated by the Fundation FondaMental. Psychiatric comorbidities, anxiety disorders and depression were screened with standard tools (Liebowitz social anxiety scale, Hamilton Depression and Anxiety Rating Scale) and correlated to autistic features and social skills assessed with the social responsiveness scale 2 (SRS-2) and the repetitive behavior scale (RBS-R). We performed bivariate analysis between the social anxiety level and the scores measured with different clinical scales. We then adjusted the observed relationships with the alterations of SRS-2 and RBS-R scores.ResultsAfter adjustment, the level of social anxiety appeared as significantly associated with alterations in social reciprocity and particularly with the SRS-2 “social communication” and “social motivation” sub-scores, but not with RBS-R score.ConclusionsWe confirm previous reports showing that individuals with ASD are at high risk for specific anxiety disorders. In particular, high levels of impairments in social motivation and social communication (SRS-2) are indicative of comorbid disorders namely, social anxiety and ASD. Our findings clearly inform diagnostic assessment in ASD and stress the need to take comorbid anxiety disorders into consideration to improve treatment of ASD. To further clarify the impact of social anxiety on social competences and socio-adaptive handicap, longitudinal studies and cluster analysis will be needed in the future.

A randomised clinical pilot trial to test the effectiveness of parent training with video modelling to improve functioning and symptoms in children with autism spectrum disorders and intellectual disability.

Poor eye contact and joint attention are early signs of autism spectrum disorder (ASD) and important prerequisites for developing other socio-communicative skills. Teaching parents evidence-based techniques to improve these skills can impact the overall functioning of children with ASD. We aimed to analyse the impact of conducting a group parent-training intervention with video modelling to improve the intelligent quotient (IQ), social and communication functioning and to minimise symptoms in children with ASD and intellectual disability (ID). Study design: A multicentre, single-blinded, randomised clinical pilot trial of parent training using video modelling was conducted. Sixty-seven parents of children with ASD, aged between 3 and 6years and with IQs between 50 and 70, were randomised: 34 to the intervention group and 33 to the control group. Intervention program: The intervention group received parent training over 22 sessions, and the control group received the standard community treatment. Pre-evaluation and post-evaluation (week 28), the following were used: Autism Diagnostic Interview, Vineland Adaptive Behaviour Scale I, Snijders-Oomen Nonverbal Intelligence Test, Autism Behaviour Checklist and Hamilton Depression Rating Scale. Intention to treat and complier-average causal effect (CACE) were used to estimate the effects of the intervention. There was a statistically significant improvement in the Vineland standardized communication scores in CACE (Cohen's d=0.260). There was a non-statistically significant decrease in autism symptomatology (Autism Behaviour Checklist total scores) and a significant increase in the non-verbal IQ in the intervention group. After the false discovery rate correction was applied, IQ remained statistically significant under both paradigms. The effect size for this adjusted outcome under the intention-to-treat paradigm was close to 0.4, and when considering adherence (CACE), the effect sizes were more robust (IQ's Cohen's d=0.433). Parent training delivered by video modelling can be a useful technique for improving the care given to children with ASD and ID, particularly in countries that lack specialists.

Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion

BackgroundA crucial step to understanding the mechanistic underpinnings of autism spectrum disorder (ASD), is to examine if the biological underpinnings of ASD in genetic high-risk conditions, like 22q11.2 deletion syndrome (22q11.2DS), are similar to those in idiopathic illness. This study aimed to examine if ASD symptomatology in 22q11.2DS is underpinned by the same—or distinct—neural systems that mediate these symptoms in non-deletion carriers.MethodsWe examined vertex-wise estimates of cortical volume (CV), surface area (SA), and cortical thickness across 131 individuals between 6 and 25 years of age including (1) 50 individuals with 22q11.2DS, out of which n = 25 had a diagnosis of ASD, (2) 40 non-carriers of the microdeletion with a diagnosis of ASD (i.e., idiopathic ASD), and (3) 41 typically developing (TD) controls. We employed a 2-by-2 factorial design to identify neuroanatomical variability associated with the main effects of 22q11.2DS and ASD, as well as their interaction. Further, using canonical correlation analysis (CCA), we compared neuroanatomical variability associated with the complex (i.e., multivariate) clinical phenotype of ASD between 22q11.2 deletion carriers and non-carriers.ResultsThe set of brain regions associated with the main effect of 22q11.2DS was distinct from the neuroanatomical underpinnings of the main effect of ASD. Moreover, significant 22q11.2DS-by-ASD interactions were observed for CV and SA in the dorsolateral prefrontal cortex, precentral gyrus, and posterior cingulate cortex, suggesting that the neuroanatomy of ASD is significantly modulated by 22q11.2DS (p < 0.01). We further established that the multivariate patterns of neuroanatomical variability associated with differences in symptom profiles significantly differed between 22q11.2 deletion carriers and non-carriers.LimitationsWe employed a multicenter design to overcome single-site recruitment limitations; however, FreeSurfer-derived measures of surface anatomy have been shown to be highly reliable across scanner platforms and field strengths. Further, we controlled for gender to address the differing distribution between idiopathic ASD individuals and the other groups. Nonetheless, the gender distribution in our sample reflects that of the respective populations, adding to the generalizability of our results. Last, we included individuals with a relatively wide age range (i.e., 6–25 years).ConclusionsOur findings indicate that neuroanatomical correlates of ASD symptomatology in carriers of the 22q11.2 microdeletion diverge from those in idiopathic ASD.

Greater functional connectivity between sensory networks is related to symptom severity in toddlers with autism spectrum disorder.

Symptoms of autism spectrum disorder (ASD) emerge in the first years of life. Yet, little is known about the organization and development of functional brain networks in ASD proximally to the symptom onset. Further, the relationship between brain network connectivity and emerging ASD symptoms and overall functioning in early childhood is not well understood. Resting-state fMRI data were acquired during natural sleep from 24 young children with ASD and 23 typically developing (TD) children, aged 17-45months. Intrinsic functional connectivity (iFC) within and between resting-state functional networks was derived with independent component analysis (ICA). Increased iFC between visual and sensorimotor networks was found in young children with ASD compared to TD participants. Within the ASD group, the degree of overconnectivity between visual and sensorimotor networks was associated with greater autism symptoms. Age-related weakening of the visual-auditory between-network connectivity was observed in the ASD but not the TD group. Taken together, these results provide evidence for disrupted functional network maturation and differentiation, particularly involving visual and sensorimotor networks, during the first years of life in ASD. The observed pattern of greater visual-sensorimotor between-network connectivity associated with poorer clinical outcomes suggests that disruptions in multisensory brain circuitry may play a critical role for early development of behavioral skills and autism symptomatology in young children with ASD.

Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.

The Social Responsiveness Scale-2 (SRS-2) is a quantitative measure used to characterize symptoms of autism spectrum disorder (ASD). However, research suggests that SRS-2 scores are significantly influenced by language ability and intellectual disability (ID). Efforts to refine the SRS-2 by Sturm, Kuhfeld, Kasari, and Mccracken [Journal of Child Psychology and Psychiatry, 58(9), 1053-1061] yielded a shortened form, yet its psychometric properties in populations with severe ID remain unknown. This study aims to examine the psychometric properties of the SRS-2 in Phelan-McDermid syndrome (PMS), a genetic condition associated with ASD and ID, thereby guiding score interpretation in this population and future development of targeted scales. Analyses, including Item Response Theory (IRT), were conducted on a sample of individuals with PMS (n = 91) recruited at six sites nationally. Psychometric properties evaluated include measures of reliability (internal consistency, test-retest reliability) and validity (structural, construct, content). While both SRS-2 forms are reliable, the shortened SRS-2 shows superior validity to the full SRS-2 for measuring ASD symptoms in PMS. On IRT analysis, the shortened SRS-2 shows excellent discrimination and precisely evaluates respondents across a wide range of ASD symptomatology but interpretation is limited by uncertain content validity and small sample size. The shortened SRS-2 shows some promise for use in PMS, but future refinements and additions are needed to develop items that are tailored to identify ASD in children with severe ID and specifically PMS. LAY SUMMARY: This study determined that a shortened form of the Social Responsiveness Scale, Second Edition (SRS-2) shows both promise and limitations for the characterization of autism symptomatology in individuals with Phelan-McDermid syndrome (PMS), a population characterized by intellectual disability (ID). Caution should be used when interpreting SRS-2 scores in individuals with ID and future research should modify existing items and develop new items to improve the SRS-2's ability to accurately characterize autism symptomatology in PMS. Autism Res 2020, 13: 1383-1396. © 2020 International Society for Autism Research, Wiley Periodicals, Inc.

Autism and attention-deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1.

To evaluate if autism symptoms and diagnoses are more common in children with neurofibromatosis type 1 (NF1) than in typically developing children, to which levels, and to determine if co-occurring attention-deficit/hyperactivity disorder (ADHD) symptomatology accounts for this increase. We searched hospital electronic medical records (EMR) for International Classification of Diseases, 10th Revision NF1 and co-occurring diagnoses codes. We recruited a subsample of 45 children (mean age 9y 2mo; SD 2y 7mo; range 5-12y; 22 males, 23 females) and collected parental reports of autism symptomatology, adaptive behavior, and behavioral problems that were compared to those of 360 age- and sex-matched controls from the Simons Simplex Collection (SSC) with autism spectrum disorder (ASD; SSC-ASD) or typically developing (SSC-TD). The EMR search identified 968 children with NF1; 8.8% had ADHD and 2.1% had ASD co-occurring diagnoses. In the subsample, the mean autism scale score for participants with NF1 was below cut-off for significant autism symptoms. Participants with NF1 had significantly more autism and behavioral symptoms than SSC-TD participants, and significantly less than SSC-ASD participants, with one exception: ADHD symptom levels were similar to those of SSC-ASD participants. In analyses that controlled for internalizing, ADHD, and communication scores, the difference in autism symptom levels between participants with NF1 and typically developing controls disappeared almost entirely. Our results do not support an association between NF1 and autism, both at the symptom and disorder levels. Diagnoses of attention-deficit/hyperactivity disorder (ADHD) were more common in children with neurofibromatosis type 1 (NF1) than in the general child population. Diagnoses of autism spectrum disorder were no more common in children with NF1 than in the general child population. Increases in autism symptoms did not reach clinically significant thresholds. Co-occurring ADHD symptoms accounted for increased autism questionnaire scores. Adaptive behavior in participants with NF1 showed normal socialization but lower communication proficiency.

Intervention Effects on Language in Children With Autism: A Project AIM Meta-Analysis.

Purpose This study synthesized effects of interventions on language outcomes of young children (ages 0-8 years) with autism and evaluated the extent to which summary effects varied by intervention, participant, and outcome characteristics. Method A subset of effect sizes gathered for a larger meta-analysis (the Autism Intervention Meta-analysis or Project AIM) examining the effects of interventions for young children with autism, which were specific to language outcomes, was analyzed. Robust variance estimation and metaregression were used to calculate summary and moderated effects while controlling for intercorrelation among outcomes within studies. Results A total of 221 outcomes were gathered from 60 studies. The summary effect of intervention on language outcomes was small but significant. Summary effects were larger for expressive and composite language outcomes compared to receptive language outcomes. Interventions implemented by clinicians, or by clinicians and caregivers together, had summary effects that were significantly larger than interventions implemented by caregivers alone. Participants' pretreatment language age equivalent scores positively and significantly moderated intervention effects, such that effects were significantly larger on average when samples of children had higher pretreatment language levels. Effects were not moderated by cumulative intervention intensity, intervention type, autism symptomatology, chronological age, or the proximity or boundedness of outcomes. Study quality concerns were apparent for a majority of included outcomes. Conclusions We found evidence that intervention can facilitate improvements in language outcomes for young children with autism. Effects were largest for expressive and composite language outcomes, for children with initially higher language abilities, and for interventions implemented by clinicians or by caregivers and clinicians combined. However, quality concerns of included studies and borderline significance of some results temper our conclusions regarding intervention effectiveness and corresponding moderators.

The Impact of Child Autistic Symptoms on Parental Marital Relationship: Parenting and Coparenting Processes as Mediating Mechanisms.

Research shows that parenting a child with autism spectrum disorder (ASD) is associated with increased marital conflicts and reduced marital love. Less is known, however, about the potential mechanism underlying these associations. The present study tested a family process model linking child autism to parental marriage. We hypothesized that child autistic symptoms would be associated with increased marital conflicts and reduced marital love among parents of children with ASD, and that these associations would be mediated by parenting stress and coparenting conflicts. A total of 382 parents of children with ASD from Hong Kong, China completed questionnaire measures of child autistic symptoms, parenting stress, coparenting conflicts, marital conflicts, and marital love. Structural equation modeling (SEM) and Bootstrap analyses were conducted to analyze the relations among the variables. SEM showed that child autistic symptoms were related to higher levels of parenting stress and coparenting conflicts, which were, in turn, related to increased marital conflicts and reduced marital love among parents of children with ASD. Bootstrap analyses further demonstrated that child autistic symptoms had significant indirect effects on marital conflicts and marital love via parenting stress and coparenting conflicts. Theoretically, this study revealed the potential pathways through which child autism symptomatology may adversely impact the family processes and compromise the marital relationships of parents of children with ASD. Practically, this study pointed to the utility of helping parents of children with ASD to manage child autistic symptoms, alleviate parenting stress, and reduce coparenting conflicts in improving their marital qualities. LAY SUMMARY: This study showed that child autistic symptoms were related to higher levels of parenting stress and coparenting conflicts, which were, in turn, related to increased marital conflicts and reduced marital love among parents of children with autism spectrum disorder (ASD). These findings pointed to the importance of helping parents of children with ASD to manage child autistic symptoms, alleviate parenting stress, and reduce coparenting conflicts in improving their marital qualities. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2020, 13: 1516-1526. © 2020 International Society for Autism Research, Wiley Periodicals, Inc.

Concentrations of Cortical GABA and Glutamate in Young Adults With Autism Spectrum Disorder.

The balance of excitation and inhibition in neural circuits is hypothesized to be increased in autism spectrum disorder, possibly mediated by altered signaling of the inhibitory neurotransmitter γ-aminobutyric acid (GABA), yet empirical evidence in humans is inconsistent. We used edited magnetic resonance spectroscopy (MRS) to quantify signals associated with both GABA and the excitatory neurotransmitter glutamate in multiple regions of the sensory and sensorimotor cortex, including primary visual, auditory, and motor areas in adult individuals with autism and in neurotypical controls. Despite the strong a priori hypothesis of reduced GABA in autism spectrum disorder, we found no group differences in neurometabolite concentrations in any of the examined regions and no correlations of MRS measure with psychophysical visual sensitivity or autism symptomatology. We demonstrate high data quality that is comparable across groups, with a relatively large sample of well-characterized participants, and use Bayesian statistics to corroborate the lack of any group differences. We conclude that levels of GABA and Glx (glutamate, glutamine, and glutathione) in the sensory and sensorimotor cortex, as measured with MRS at 3T, are comparable in adults with autism and neurotypical individuals. Autism Res 2020, 13: 1111-1129. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: γ-Aminobutyric acid (GABA) and glutamate are the main inhibitory and excitatory neurotransmitters in the human brain, respectively, and their balanced interaction is necessary for neural function. Previous research suggests that the GABA and glutamate systems might be altered in autism. In this study, we used magnetic resonance spectroscopy to measure concentrations of these neurotransmitters in the sensory areas in the brains of young adults with autism. In contradiction to the common hypothesis of reduced GABA in autism, we demonstrate that concentrations of both GABA and glutamate, in all the brain regions examined, are comparable in individuals with autism and in neurotypical adults. © 2020 International Society for Autism Research, Wiley Periodicals, Inc.

Non-Clinical Autistic Traits Correlate With Social and Ethical but Not With Financial and Recreational Risk-Taking.

Previous research into uncertain and risky decision-making in autism spectrum disorder (ASD) has been inconclusive, with some studies reporting less uncertain and risky decisions by persons with ASD compared to neurotypicals, but other studies failing to find such effects. A possible explanation for these inconsistent findings is that aberrant decision-making in ASD is domain-specific, and only manifests itself in domains related to autism symptomatology. The present study examines this premise by correlating self-reported autistic traits to individuals’ intention to engage in risky behaviours, their perception of how risky these behaviours are, and the amount of benefit they expect to obtain from engaging in them; all for five separate domains of decision-making: social, ethical, recreational, health/safety, and financial. In line with the hypotheses, persons with higher autistic traits reported reduced intention to engage in risky social behaviours and increased intention to engage in risky ethical behaviours. Furthermore, a positive correlation was found between autistic traits and risk perception in the social domain, indicating that persons with higher autistic traits perceive social behaviours as riskier than do persons with lower autistic traits. Correlations between autistic traits and individuals’ intention to engage in risky recreational and financial behaviours were small, and supported the null hypothesis (as shown by Bayes Factors). Given that most studies on uncertain and risky decision-making take place in a financial context, the present results could explain previous inconsistent findings on decision-making in ASD. Therefore, future studies should also examine decision-making outside the financial realm.

Statistical Learning and Social Competency: The Mediating Role of Language

The current study sought to examine the contribution of auditory and visual statistical learning on language and social competency abilities as well as whether decreased statistical learning abilities are related to increased autistic traits. To answer these questions, participants’ (N = 95) auditory and visual statistical learning abilities, language, social competency, and level of autistic traits were assessed. Although the relationships observed were relatively small in magnitude, our results demonstrated that visual statistical learning related to language and social competency abilities and that auditory learning was more related to autism symptomatology than visual statistical learning. Furthermore, the relationship between visual statistical learning and social competency was mediated by language comprehension abilities, suggesting that impairments in statistical learning may cascade into impairments in language and social abilities.

Underconnectivity Between Visual and Salience Networks and Links With Sensory Abnormalities in Autism Spectrum Disorders

The anterior insular cortex (AI), which is a part of the salience network, is critically involved in visual awareness, multisensory perception, and social and emotional processing, among other functions. In children and adolescents with autism spectrum disorders (ASDs), evidence has suggested aberrant functional connectivity (FC) of AI compared with typically developing peers. While recent studies have primarily focused on the functional connections between salience and social networks, much less is known about connectivity between AI and primary sensory regions, including visual areas, and how these patterns may be linked to autism symptomatology. The current investigation implemented functional magnetic resonance imaging to examine resting-state FC patterns of salience and visual networks in children and adolescents with ASDs compared with typically developing controls, and to relate them to behavioral measures. Functional underconnectivity was found in the ASD group between left AI and bilateral visual cortices. Moreover, in an ASD subgroup with more atypical visual sensory profiles, FC was positively correlated with abnormal social motivational responsivity. Findings of reduced FC between salience and visual networks in ASDs potentially indicate deficient selection of salient information. Moreover, in children and adolescents with ASDs who show strongly atypical visual sensory profiles, connectivity at seemingly more neurotypical levels may be paradoxically associated with greater impairment of social motivation.

A Neuroendocrine Therapeutic Approach with the Pineal Hormone Melatonin, Cannabidiol and Oxytocin (MCO regimen) in the Treatment of the Autism Spectrum disorders

After several years of researches to identify possible neurochemical alterations, at present it is known that autism is characterized and induced by at least three neuroendocrine deficiencies, involving the pineal function and the secretion of its most investigated hormone, melatonin (MLT), brain cannabinoid system, and the neurohypophyseal production of oxytocin (OT). Because of the fundamental role of MLT in sleep regulation, brain cannabinoid system in pleasure perception and control of anxiety, and OT in the affective life, these three neuroendocrine deficiencies might explain at least in part the symptomatology of autism. Therefore, autism-related neurochemical anomalies would involve the same main brain structures responsible for the conscious and the affective life, as well as for pleasure perception. On these bases, a preliminary study was performed to evaluate the influence of a progressive neuroendocrine. Substitutive treatment in autistic children. The study included 30 consecutive patients, by treating the first 12 subjects with the only MLT (100 mg/day in the dark period), the next 12 subjects with MLT plus cannabidiol. (CBD) (10 mg twice/day), and the remaining 6 subjects with MLT plus CBD plus OT (2 mg twice/day). All therapies were orally administered. MLT alone was mainly active in the treatment of sleep disorders. The association with CBD improved the control of anxiety. Finally, the further association with OT was also effective in improving the social and affective relationships. These preliminary results would suggest the possibility to treat the autism spectrum disorders by correcting their main neuroendocrine deficiencies through an exogenous administration.

Depressive symptomatology in adults with autism spectrum disorder and intellectual disability: correlates and predictors

Autism Spectrum Disorder (ASD) usually appears associated with other comorbid psychopathology. For this reason, the present research aimed to study the comorbid conditions in ASD paying more attention to depressive symptoms. The investigation included a sample of 37 adults with ASD and intellectual disability (M = 27.49; SD = 9.2), users of various associations of the Community of Madrid. Autistic severity was assessed with the Diagnostic Behavioral Assessment for Autism Spectrum Disorder-Revised (Dibas-R) and comorbidity was assessed through Autism Spectrum Disorders-Comorbidity for Adults (ASD-CA). The results showed a significant correlation between autism symptomatology and general comorbidity. Moreover, autistic symptoms were associated with depressive symptomatology. A hierarchical regression analysis was also conducted; and its data suggested that irritability/behavioral excesses were significant predictors of depression in ASD.

Age-related changes in behavioural and emotional problems in Smith-Magenis syndrome measured with the Developmental Behavior Checklist.

Smith–Magenis syndrome (SMS) is a genetic syndrome most often caused by a deletion on chromosome 17 or more rarely by a mutation in the retinoic acid-induced 1 gene. The aim of this study was to investigate the Developmental Behavior Checklist (DBC) profile of persons with SMS and the associations between behavioural and emotional problems, age, gender, adaptive behaviour and autism symptomatology. Twenty-eight persons with SMS were represented by their parents in this study. DBC Total scores are reduced with age, but they still show a mean that is clearly above the cut-off of 46. The differences between the age groups <9 years and 9–17 years (p = 0.024) and between the age groups <9 years and >18 years (p = 0.007) are significant. We found a significant decrease in behavioural and emotional problems with age in SMS. We did not find a relationship between adapted behaviour and communication and behavioural and emotional problems.

Plasma Oxytocin Levels in a Sample of Egyptian Autistic Patients : Relation to Autistic Symptomatology

Plasma Oxytocin Levels in a Sample of Egyptian Autistic Patients : Relation to Autistic Symptomatology

Sleep Promotes Phonological Learning in Children Across Language and Autism Spectra.

Purpose Establishing stable and flexible phonological representations is a key component of language development and one which is thought to vary across children with neurodevelopmental disorders affecting language acquisition. Sleep is understood to support the learning and generalization of new phonological mappings in adults, but this remains to be examined in children. This study therefore explored the time course of phonological learning in childhood and how it varies by structural language and autism symptomatology. Method Seventy-seven 7- to 13-year-old children, 30 with high autism symptomatology, were included in the study; structural language ability varied across the sample. Children learned new phonological mappings based on synthesized speech tokens in the morning; performance was then charted via repetition (without feedback) over 24 hr and followed up 4 weeks later. On the night following learning, children's sleep was monitored with polysomnography. Results A period of sleep but not wake was associated with improvement on the phonological learning task in childhood. Sleep was associated with improved performance for both trained items and novel items. Structural language ability predicted overall task performance, though language ability did not predict degree of change from one session to the next. By contrast, autism symptomatology did not explain task performance. With respect to sleep architecture, rapid eye movement features were associated with greater phonological generalization. Conclusions Children's sleep was associated with improvement in performance on both trained and novel items. Phonological generalization was associated with brain activity during rapid eye movement sleep. This study furthers our understanding of individual differences in the acquisition of new phonological mappings and the role of sleep in this process over childhood. Supplemental Material https://doi.org/10.23641/asha.11126732.

Vocabulary comprehension in adults with fragile X syndrome (FXS)

BackgroundReceptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been considered a strength relative to mental age. This has not been formally examined, however, and data are needed to compare receptive vocabulary with other language skills and with mental age in individuals with FXS. This is especially important as vocabulary measures are sometimes used as a proxy to estimate language ability.MethodsThis preliminary study examined receptive vocabulary, global language, and cognitive skills in 42 adults (33 males and 9 females) with FXS as a portion of the baseline evaluation prior to randomization in a clinical trial of ampakine CX516. The battery of standardized tests addressed receptive vocabulary with the Peabody Picture Vocabulary Test, Third Edition (PPVT-III), receptive and expressive language (termed henceforth as global language) via the Preschool Language Scale, Fourth Edition or the Clinical Evaluation of Language Fundamentals, Third Edition, and non-verbal cognition via the Stanford-Binet Intelligence Scales, Fourth Edition (SB-IV).ResultsResults showed (1) significantly higher receptive vocabulary than global language, (2) significantly better receptive vocabulary than non-verbal cognition, (3) equivalent non-verbal cognition and global language, and (4) severity of autism symptomatology was not correlated to receptive vocabulary or global language once non-verbal cognition was removed as factor. The scores from the PPVT-III did not represent the global language skills in our sample of adults with FXS.ConclusionsFindings from this investigation strongly suggest that the PPVT-III should not be used as a screening tool for language levels or cognitive function in clinical studies since the scores from the PPVT-III were not representative of global language or non-verbal cognitive skills in adults with intellectual disabilities. This finding is critical in order to understand how to evaluate, as well as to treat, language in individuals with FXS. Development of efficient and appropriate tools to measure language, cognition, and behavior in individuals with FXS is essential.

Autism spectrum disorder: Clinical diagnosis and ADOS Test.

Autism Spectrum Disorder (ASD) is a neurobiological disorder of high prevalence, whose clinical diagnosis is a constant challenge. To describe the clinical profile in a co hort of children with ASD from referral to the specialist to a diagnostic test. Descriptive study from the first symptoms perceived by the mother to the diagnostic confirmation of a series of 50 consecutive cases, which were clinically diagnosed with ASD between 2012 and 2016. Children aged between 3 to 10 years at the time of the ADOS-G test and language of at least one word were included. The children were evaluated neuropsychologically (functionality, intellectuality and ADOS test). We compared the median age to the neurological diagnosis, according to the autistic symptomatology and cognitive level. The ADOS test corroborated an ASD in 44 children (88%), 93.1% were males. The average age at clinical diagnosis and ADOS test was 48.2 ± 19.3 and 62.6 ± 23.3 months. The neurological consultation in 72% of cases was parental/educator initiative due to symptoms such as social interaction disorder and language delay. The autistic symptomato logy was mild, moderate and severe in 34.1, 47.7 and 18.2% respectively. In five of 27 children who were neuropsychologically evaluated cognitive deficits were detected. The median age at diagnosis was significantly lower in children with severe autism symptoms vs the ones with mild-moderate symptoms (p-value 0.024). Autistic symptoms determine the early consultation; the refore, it is necessary to guide the general and educational population as well as health professionals regarding these symptoms.

L’ADI-R et l’ADOS face au diagnostic différentiel des troubles du spectre autistique : intérêts, limites et ouvertures

IntroductionCurrent developments in international public health are leading qualified authorities to release clinical practice guidelines for Autism Spectrum Disorders (ASD) assessment and diagnosis. Such documents incorporate procedures that rely on the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) which are considered to be the “gold standard” assessment measures in the evaluation of ASD. Although these tools do prove their effectiveness in the evaluation of autistic symptomatology, they nevertheless stumble whenever the situation becomes more complex and reveal differential diagnostic issues in infantile and adult autism cases. This differential diagnostic issue remains significant in the clinical practice of daily life and has strong implications for the course of therapeutic treatment. ObjectivesOur objective is to underline and nuance the metrological qualities of the ADI-R and the ADOS in the differential diagnosis of autistic disorders by presenting a synthesis of recent studies, thus supporting the interest of maintaining an open debate on diagnostic practices. MethodsOur selective review of the recent literature focuses on studies that confront the ADI-R and the ADOS — used either independently or in a combination — with various differential issues in adulthood and childhood autism in order to highlight their qualities and limits. ResultsThe ADI-R is a semi-structured interview applied by trained examiners and applied to relatives and/or caregivers who collect developmental information about the patient's first years of life on a variety of behaviors and skills. It is therefore relatively dependent on the availability and personal bias of the interviewed third parties. Metric features highlighted by the reviewed studies straightforwardly reveal a certain effectiveness of the tool and a good discrimination of childhood disorders. At the same time, the tool's discriminatory capacity seems insufficient when applied to toddlers, very young children, and adults alike. The latter seems particularly true when it comes to differentiating between autistic and schizophrenic spectrum disorders. The ADOS is a semi-structured standardized observation assessment tool that has experienced several successive developments, such as optimizations concerning the sensitivity of its cutoffs. Many works have contributed to building such a tool with reliable and solid metric qualities which nevertheless retain important biases such as the subjectivity of the caregiver or the evaluator during the scoring process. For assessments of autistic children the tool still has a good diagnostic validity but seems to retain cases of incorrect diagnosis of ASD (false positives). In other words, disorders or developmental disabilities of some children and adolescents could not be distinguished from ASD when relying on this test alone. The ADOS Module 4, designed for the diagnosis of adolescents and adults with fluent speech, has undergone less updating. This revisited algorithm has metrological qualities useful for clinicians and remains one of the few available tools for this population. Unfortunately, its diagnostic accuracy is lower when applied to women, the elderly, people with personality disorders or higher intellectual abilities, or for the discrimination between ASD and schizophrenia. Overall, scores from these two instruments bring strong evidence of their usefulness in the diagnostic process of ASD, provided that they are used with caution and a critical clinical perspective, and only as a secondary technical support. Their use in combination is effective since they are complementary and compensate for each other's limitations. However, their globalized hegemony as “gold-standard” tools constitutes a setback insofar as it constrains the diagnosis of ASD to a set of stereotyped items. The latter in turn sets a normative model of autism that excludes other phenotypic forms, especially in the case of women and the elderly. Finally, the discrimination between autism and psychosis for children seems to remain an insoluble task even for the ADI-R/ADOS combination. ConclusionsThe problematics of differential diagnosis remain critical for clinical approaches to autism. Therefore, formalizations of the diagnostic procedures must be able to remain open-minded and accompanied by a creative clinical approach, especially in the case of complex situations that are not soluble by means of conventional diagnostic tools. One possibility may lie in the deepening of the phenomenological approach to autism as an attempt to model the subjective phenomena of autistic subjects and thus operationalize elements that serve the diagnostic process. In the same way, a psychodynamic epistemology could help clinicians to go beyond the consideration of observable behaviors and scores, introducing a psychoanalytic point of view that interfaces objective behaviors with the individual's dynamic intrapsychic functioning. This project could be articulated with projective methodologies — notably the Rorschach test — which respects the needs for standardization and quantification of conventionally used diagnostic tools.