Latent class analysis of early developmental trajectory in baby siblings of children with autism

Background: Siblings of children with autism (sibs‐A) are at increased genetic risk for autism spectrum disorders (ASD) and milder impairments. To elucidate diversity and contour of early developmental trajectories exhibited by sibs‐A, regardless of diagnostic classification, latent class modeling was used. Methods: Sibs‐A (N = 204) were assessed with the Mullen Scales of Early Learning from age 6 to 36 months. Mullen T scores served as dependent variables. Outcome classifications at age 36 months included: ASD (N = 52); non‐ASD social/communication delay (broader autism phenotype; BAP; N = 31); and unaffected (N = 121). Child‐specific patterns of performance were studied using latent class growth analysis. Latent class membership was then related to diagnostic outcome through estimation of within‐class proportions of children assigned to each diagnostic classification. Results: A 4‐class model was favored. Class 1 represented accelerated development and consisted of 25.7% of the sample, primarily unaffected children. Class 2 (40.0% of the sample), was characterized by normative development with above‐average nonverbal cognitive outcome. Class 3 (22.3% of the sample) was characterized by receptive language, and gross and fine motor delay. Class 4 (12.0% of the sample), was characterized by widespread delayed skill acquisition, reflected by declining trajectories. Children with an outcome diagnosis of ASD were spread across Classes 2, 3, and 4. Conclusions: Results support a category of ASD that involves slowing in early non‐social development. Receptive language and motor development is vulnerable to early delay in sibs‐A with and without ASD outcomes. Non‐ASD sibs‐A are largely distributed across classes depicting average or accelerated development. Developmental trajectories of motor, language, and cognition appear independent of communication and social delays in non‐ASD sibs‐A.     

Characteristics of autism spectrum disorder in Cornelia de Lange syndrome

Background: The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in Cornelia de Lange syndrome (CdLS). However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. In this study we examine the ASD profile in CdLS in comparison to a matched group of individuals with ASD. Method: The Autism Diagnostic Observation Schedule (ADOS) was administered to 20 individuals with CdLS (mean age = 11.34; range = 6–13 years) and 20 individuals with idiopathic ASD (mean age = 10.42; range = 8–11 years). Participants were matched according to adaptive behaviour and receptive language skills. Results: Sixty‐five percent (N = 13) of individuals with CdLS met the cut‐off score for autism on the total ADOS score. Further analysis at domain and item level indicated that individuals with CdLS showed significantly less repetitive behaviour, (specifically sensory interests); more eye contact, more gestures and less stereotyped speech than the ASD group. The CdLS group also showed higher levels of anxiety. Conclusions: The comparison between CdLS and idiopathic ASD indicates subtle group differences in the profile of ASD symptomatology that are not accounted for by degree of intellectual disability or receptive language skills. These differences may not be evident when relying solely upon clinical and domain level scores, but may be distinguishing features of the ASD presentations in the two disorders. The findings have implications for the conceptualisation and assessment of ASD in individuals with genetic syndromes.     

Unbroken mirror neurons in autism spectrum disorders

Background: The ‘broken mirror’ theory of autism, which proposes that a dysfunction of the human mirror neuron system (MNS) is responsible for the core social and cognitive deficits in individuals with autism spectrum disorders (ASD), has received considerable attention despite weak empirical evidence. Methods: In this electroencephalographic study, we examined mu suppression, as an indicator of sensorimotor resonance, concurrent with oculomotor performance while individuals (n = 20) with ASD and control participants (n = 20) either executed hand actions or observed hand actions or a moving dot. No difference in visual attention between groups was found as indicated by fixation duration and normalized fixation number on the presented stimuli. Results: The mu suppression over the sensorimotor cortex was significantly affected by experimental conditions, but not by group membership, nor by the interaction between groups and conditions. Individuals with ASD, similar to the controls, exhibited stronger mu suppression when watching hand actions relative to a moving dot. Notably, participants with ASD failed to imitate the observed actions while their mu suppression indicating the MNS activity was intact. In addition, the mu suppression during the observation of hand actions was positively associated with the communication competence of individuals with ASD. Conclusion: Our study clearly challenges the broken mirror theory of autism. The functioning of the mirror neuron system might be preserved in individuals with ASD to a certain degree. Less mu suppression to action observation coupled with more communicational severity can reflect the symptom heterogeneity of ASD. Additional research needs to be done, and more caution should be used when reaching out to the media.     

Optimal outcome in individuals with a history of autism

Background: Although autism spectrum disorders (ASDs) are generally considered lifelong disabilities, literature suggests that a minority of individuals with an ASD will lose the diagnosis. However, the existence of this phenomenon, as well as its frequency and interpretation, is still controversial: were they misdiagnosed initially, is this a rare event, did they lose the full diagnosis, but still suffer significant social and communication impairments or did they lose all symptoms of ASD and function socially within the normal range? Methods: The present study documents a group of these optimal outcome individuals (OO group, n = 34) by comparing their functioning on standardized measures to age, sex, and nonverbal IQ matched individuals with high‐functioning autism (HFA group, n = 44) or typical development (TD group, n = 34). For this study, ‘optimal outcome’ requires losing all symptoms of ASD in addition to the diagnosis, and functioning within the nonautistic range of social interaction and communication. Domains explored include language, face recognition, socialization, communication, and autism symptoms. Results: Optimal outcome and TD groups’ mean scores did not differ on socialization, communication, face recognition, or most language subscales, although three OO individuals showed below‐average scores on face recognition. Early in their development, the OO group displayed milder symptoms than the HFA group in the social domain, but had equally severe difficulties with communication and repetitive behaviors. Conclusions: Although possible deficits in more subtle aspects of social interaction or cognition are not ruled out, the results substantiate the possibility of OO from autism spectrum disorders and demonstrate an overall level of functioning within normal limits for this group.     

The perception and identification of facial emotions in individuals with autism spectrum disorders using the Let’s Face It! Emotion Skills Battery

Background: Although impaired social–emotional ability is a hallmark of autism spectrum disorder (ASD), the perceptual skills and mediating strategies contributing to the social deficits of autism are not well understood. A perceptual skill that is fundamental to effective social communication is the ability to accurately perceive and interpret facial emotions. To evaluate the expression processing of participants with ASD, we designed the Let’s Face It! Emotion Skills Battery (LFI! Battery), a computer‐based assessment composed of three subscales measuring verbal and perceptual skills implicated in the recognition of facial emotions. Methods: We administered the LFI! Battery to groups of participants with ASD and typically developing control (TDC) participants that were matched for age and IQ. Results: On the Name Game labeling task, participants with ASD (N = 68) performed on par with TDC individuals (N = 66) in their ability to name the facial emotions of happy, sad, disgust and surprise and were only impaired in their ability to identify the angry expression. On the Matchmaker Expression task that measures the recognition of facial emotions across different facial identities, the ASD participants (N = 66) performed reliably worse than TDC participants (N = 67) on the emotions of happy, sad, disgust, frighten and angry. In the Parts–Wholes test of perceptual strategies of expression, the TDC participants (N = 67) displayed more holistic encoding for the eyes than the mouths in expressive faces whereas ASD participants (N = 66) exhibited the reverse pattern of holistic recognition for the mouth and analytic recognition of the eyes. Conclusion: In summary, findings from the LFI! Battery show that participants with ASD were able to label the basic facial emotions (with the exception of angry expression) on par with age‐ and IQ‐matched TDC participants. However, participants with ASD were impaired in their ability to generalize facial emotions across different identities and showed a tendency to recognize the mouth feature holistically and the eyes as isolated parts.     

Troubles de la modulation sensorielle et difficultés adaptatives dans les troubles du spectre de l’autisme

Introduction

People suffering from autism spectrum disorders (ASD) provide atypical responses to sensorial stimulations, indicating specific sensory processing. These responses vary from one another and within the same individual with ASD, resulting in maladaptive functional capacities in everyday life. Factors explaining those specificities are poorly defined and need to be better identified.

Mealtime Behaviors of Preschool Children: Comparison of Children with Autism Spectrum Disorder and Children with Typical Development

ABSTRACT

This study identified mealtime behaviors of young children (3–6 years old) with autism spectrum disorder (ASD) and compared these behaviors to children with typical development matched for age, gender, and ethnicity. The parents of children with ASD (n = 24) and children with typical development (n = 24) completed a mealtime survey to assess early mealtime history, mealtime location and behaviors, food preferences and behaviors, and eating problems. Parental concerns increased significantly after age 1 year in the children with ASD. Matched analysis results showed significant differences between the pairs of children in specific mealtime behaviors. More children with ASD were picky eaters, mouthed nonfood items, resisted new foods, limited foods based on textures, had problems with gagging, had difficulty eating at regular restaurants or at school, resisted sitting at the table, and threw or dumped food. Knowledge of these early differences can help pediatric therapists to assess feeding issues and plan interventions.     

Orienting of visual attention among persons with autism spectrum disorders: reading versus responding to symbolic cues

Background: Are persons with autism spectrum disorders (ASD) slower than typically developing individuals to read the meaning of a symbolic cue in a visual orienting paradigm? Methods: Participants with ASD (n = 18) and performance mental age (PMA) matched typically developing children (n = 16) completed two endogenous orienting conditions in which the cue exposure time and response preparation time were manipulated within a consistent series of cue‐target stimulus onset asynchronies (SOAs). Results: Participants with ASD displayed facilitation effects at all SOAs, whereas typically developing children displayed facilitation effects only at shorter SOAs. The magnitude of the facilitation effect was greater for the group with ASD at 400ms SOA. Both groups showed similar effects of condition, with similar patterns of facilitation in both conditions. Conclusion: Persons with ASD were not slower to read the symbolic cue, as the effect was elicited by brief cues within longer SOAs before target onset. The participants with ASD were also less efficient in using the predictability of the cues to guide responding. The difficulties of participants with ASD on endogenous orienting occur at the response selection level, not the perceptual level.     

Sensory Processing Patterns in Autism,Attention Deficit Hyperactivity Disorder,and Typical Development

Aims: The purpose of this study was to examine sensory processing in children ages 3–14 years with autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and typical development (TD) using the Sensory Profile 2nd Edition (Dunn, 2014). Methods: Participants included 239 children (ASD = 77; ADHD = 78; TD = 84) matched on age and gender. Multivariate analysis of covariance was used to compare the extent to which the three grsoups differed on sensory processing patterns (i.e., sensitivity, avoiding, registration, seeking) and sensory systems (i.e., auditory, visual, touch, movement, body position, oral, conduct, attention, social). We also examined the effect of chronological age. Results: Children with ASD and ADHD did not differ in sensory processing patterns which were elevated as compared to a TD group. Children with ASD showed the highest rate of oral processing differences, followed by ADHD and TD. Children with ADHD had higher visual processing scores than children with ASD and TD. Older children had lower scores for seeking, auditory, visual, movement, touch, and conduct than younger children, regardless of diagnosis. Conclusions: Findings suggest that sensory features may be an area of overlap of behaviors in ASD and ADHD, which may have implications for intervention approaches for children with these conditions.     

Association of ADHD,tics, and anxiety with dopamine transporter (DAT1) genotype in autism spectrum disorder

Background: Autism spectrum disorder (ASD) is associated with high rates of psychiatric disturbance to include attention‐deficit/hyperactivity disorder (ADHD), tic disorder, and anxiety disorders. The aim of the present study was to examine the association between a variable number tandem repeat (VNTR) functional polymorphism located in the 3’‐untranslated region of the dopamine transporter gene (DAT1) and the severity of these symptoms as well as the association between the DAT1 DdeI polymorphism and severity of tics. Methods: Parents (n = 62) and teachers (n = 57) completed a DSM‐IV‐referenced rating scale for 67 children with ASD. Results: According to parent ratings, children with the 10‐10 repeat allele (versus a combined group of all other genotypes) exhibited less severe symptoms of hyperactivity and impulsivity as well as less severe language deficits. Teacher ratings indicated that social anxiety and tic symptoms were more severe for children with the 10‐10 genotype versus all others. Exploratory analyses provided preliminary support for the notion that heterozygosity (9–10 repeat genotype) may be a risk/protective factor. There were no associations of tic severity with the DAT1 DdeI polymorphism. Conclusion: Collectively, these results suggest that the extraordinary variability in ASD clinical phenotypes may be explained in part by the same genes that are implicated in a host of other psychiatric disorders in non‐ASD populations. Nevertheless, replication with independent samples is necessary to confirm this preliminary finding.     

Investigating phenotypic heterogeneity in children with autism spectrum disorder: a factor mixture modeling approach

Background: Autism spectrum disorder (ASD) is characterized by notable phenotypic heterogeneity, which is often viewed as an obstacle to the study of its etiology, diagnosis, treatment, and prognosis. On the basis of empirical evidence, instead of three binary categories, the upcoming edition of the DSM 5 will use two dimensions – social communication deficits (SCD) and fixated interests and repetitive behaviors (FIRB) – for the ASD diagnostic criteria. Building on this proposed DSM 5 model, it would be useful to consider whether empirical data on the SCD and FIRB dimensions can be used within the novel methodological framework of Factor Mixture Modeling (FMM) to stratify children with ASD into more homogeneous subgroups. Methods: The study sample consisted of 391 newly diagnosed children (mean age 38.3 months; 330 males) with ASD. To derive subgroups, data from the Autism Diagnostic Interview‐Revised indexing SCD and FIRB were used in FMM; FMM allows the examination of continuous dimensions and latent classes (i.e., categories) using both factor analysis (FA) and latent class analysis (LCA) as part of a single analytic framework. Results: Competing LCA, FA, and FMM models were fit to the data. On the basis of a set of goodness‐of‐fit criteria, a ‘two‐factor/three‐class’ factor mixture model provided the overall best fit to the data. This model describes ASD using three subgroups/classes (Class 1: 34%, Class 2: 10%, Class 3: 56% of the sample) based on differential severity gradients on the SCD and FIRB symptom dimensions. In addition to having different symptom severity levels, children from these subgroups were diagnosed at different ages and were functioning at different adaptive, language, and cognitive levels. Conclusions: Study findings suggest that the two symptom dimensions of SCD and FIRB proposed for the DSM 5 can be used in FMM to stratify children with ASD empirically into three relatively homogeneous subgroups.     

Home-based DIR/Floortime™ Intervention Program for Preschool Children with Autism Spectrum Disorders: Preliminary Findings

ABSTRACT

Improving parent–child interaction and play are important outcomes for children with autism spectrum disorder (ASD). Play is the primary occupation of children. In this pilot study conducted in Taiwan, we investigated the effects of the developmental, individual difference, and relationship-based (DIR)/Floortime? home-based intervention program on social interaction and adaptive functioning of children with ASD. The participants were 11 children with ASD, ages from 45–69 months, and their mothers. Mothers were instructed the principles of the approach by an occupational therapist. All 11 children and their mothers completed the 10-week home-based intervention program, undergoing an average of 109.7 hr of intervention. Children made significant changes in mean scores for emotional functioning, communication, and daily living skills. Moreover, the mothers perceived positive changes in their parent-child interactions. The findings of this pilot study contribute to knowledge regarding the effects of home-based DIR/Floortime? intervention program on increasing the social interaction and adaptive behaviors of children with ASD in Taiwan.     

Chromosome 22q11 Deletions in Patients with Conotruncal Heart Defects

We performed this study to determine the frequency of 22q11 deletions and associated phenotypic features and abnormalities in conotruncal heart defects. Sixty-one patients with conotruncal heart defects, including tetralogy of Fallot (TOF; n = 32), pulmonary atresia/ventricular septal defect (PAVSD; n = 12), double-outlet right ventricle (DORV; n = 5), transposition of the great arteries (TGA; n = 4 ), truncus arteriosus (TA; n = 4), subpulmonary ventricular septal defect (SPVSD; n = 3), and interrupted aortic arch (IAA; n = 1), were enrolled in this study and screened for 22q11 deletions by the fluorescence in situ hybridization technique. Phenotypic features and associated abnormalities, including submucosal cleft palate, abnormal facies, square nose, nasal voice, abnormal ears, long and slender fingers, delayed development, mental retardation, delayed growth, short stature, and hypocalcemia, were examined in these patients. Nine of 61 patients (14.8%) had 22q11 deletions, including 100% of IAA, 50% of TA, 33.3% of SPVSD, 33.3% of PAVSD, and 3.1% of TOF. Deletions were not detected in DORV and TGA. In all patients with 22q11 deletions, ≥1 phenotypic features or associated abnormalities were observed. A subgroup of patients with IAA, TA, SPVSD, and PAVSD associated with phenotypic features or abnormalities warrants evaluation for the presence of 22q11 deletions.     

Autistic symptomatology and language ability in autism spectrum disorder and specific language impairment

Background: Autism spectrum disorders (ASD) and specific language impairment (SLI) are common developmental disorders characterised by deficits in language and communication. The nature of the relationship between them continues to be a matter of debate. This study investigates whether the co‐occurrence of ASD and language impairment is associated with differences in severity or pattern of autistic symptomatology or language profile. Methods: Participants (N = 97) were drawn from a total population cohort of 56,946 screened as part of study to ascertain the prevalence of ASD, aged 9 to 14 years. All children received an ICD‐10 clinical diagnosis of ASD or No ASD. Children with nonverbal IQ ≥80 were divided into those with a language impairment (language score of 77 or less) and those without, creating three groups: children with ASD and a language impairment (ALI; N = 41), those with ASD and but no language impairment (ANL; N = 31) and those with language impairment but no ASD (SLI; N = 25). Results: Children with ALI did not show more current autistic symptoms than those with ANL. Children with SLI were well below the threshold for ASD. Their social adaptation was higher than the ASD groups, but still nearly 2 SD below average. In ALI the combination of ASD and language impairment was associated with weaker functional communication and more severe receptive language difficulties than those found in SLI. Receptive and expressive language were equally impaired in ALI, whereas in SLI receptive language was stronger than expressive. Conclusions: Co‐occurrence of ASD and language impairment is not associated with increased current autistic symptomatology but appears to be associated with greater impairment in receptive language and functional communication.     

Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome

Prader-Willi syndrome is a neurodevelopmental disorder that is characterized by infantile hypotonia, feeding difficulties, hypogonadism, mental deficiency, hyperphagia (leading to obesity in early childhood), learning problems, and behavioral difficulties. A paternal 15q11-q13 deletion is found in approximately 70% of patients with Prader-Willi syndrome, approximately 25% have uniparental maternal disomy 15, and the remaining 2% to 5% have imprinting defects. The proximal deletion breakpoint in the 15q11-q13 region occurs at 1 of 2 sites located within either of 2 large duplicons allowing for the identification of 2 deletion subgroups. The larger, type I (TI) deletion involves breakpoint 1, which is close to the centromere, whereas the smaller, type II (TII) deletion involves breakpoint 2, located approximately 500 kilobases distal to breakpoint 1. Breakpoint 3 is located at the distal end of the 15q11-q13 region and common to both typical deletion subgroups. Analyses of the genetic subtypes of Prader-Willi syndrome to date have primarily compared individuals with typical deletion and uniparental maternal disomy 15 without grouping the individuals with a deletion into TI or TII. Distinct differences have been reported between individuals with Prader-Willi syndrome resulting from deletion compared with uniparental maternal disomy 15 in physical, cognitive, and behavioral parameters. We previously presented the first assessment of clinical differences in individuals with Prader-Willi syndrome categorized as having type I or II deletions. Adaptive behavior, obsessive-compulsive behaviors, reading, math, and visual-motor integration assessments were generally poorer in individuals with Prader-Willi syndrome and the TI deletion compared with subjects with Prader-Willi syndrome with the TII deletion or uniparental maternal disomy 15. Four genes (NIPA1, NIPA2, CYFIP1, and GCP5) have been identified in the chromosomal region between breakpoints 1 and 2 and are implicated in compulsive behavior and lower intellectual ability observed in individuals with Prader-Willi syndrome with TI versus TII deletions. We quantified messenger-RNA levels of these 4 genes in actively growing lymphoblastoid cells derived from 8 subjects with Prader-Willi syndrome with the TI deletion (4 males, 4 females; mean: age 25.2 +/- 8.9 years) and 9 with the TII deletion (3 males, 6 females; mean age: 19.5 +/- 5.8 years). Messenger-RNA levels were correlated with validated psychological and behavioral scales administered by trained psychologists blinded to genotype status. Messenger RNA from NIPA1, NIPA2, CYFIP1, and GCP5 was reduced but detectable in the subjects with Prader-Willi syndrome with the TI deletion, supporting biallelic expression. For the most part, messenger-RNA values were positively correlated with assessment parameters, indicating a direct relationship between messenger-RNA levels and better assessment scores, with the highest correlation for NIPA2. The coefficient of determination indicated the quantity of messenger RNA of the 4 genes explained from 24% to 99% of the variation of the behavioral and academic parameters measured. By comparison, the coefficient of determination for deletion type alone explained 5% to 50% of the variation in the assessed parameters. Understanding the influence of gene expression on behavioral and cognitive characteristics in humans is in the early stage of research development. Additional research is needed to identify the function of these genes and their interaction with gene networks to clarify the potential role they play in central nervous system development and function.     

Use of Social Stories to Improve Self-Regulation in Children with Autism Spectrum Disorders

ABSTRACT

A multiple baseline across participants design was used to evaluate the effects of Social Stories to help preschool-aged children with characteristics of Autism Spectrum Disorders (ASD) increase their engagement in functional behaviors and use sensory integrative-based strategies to promote self-regulation. Three children, 3–5 years old, from a self-contained preschool classroom were selected to participate in the study. The intervention package included reading individualized Social Stories that discussed desired behaviors and self-regulation strategies. The researchers measured the percentage of intervals in which participants engaged in desired behaviors. The frequency of desired behaviors increased for all participants. The use of self-regulation strategies varied across participants. These findings suggest that the intervention was successful in increasing desired behaviors of the three children. Further research is recommended on the effectiveness of embedding sensory integrative strategies into Social Stories. Practitioners may consider the use of Social Stories as a tool to increase independence and encourage self-regulated behaviors in children with characteristics of ASD.     

Rethinking theory of mind in high‐functioning autism spectrum disorder

Background: The sociocommunicative problems in autism spectrum disorder (ASD) are traditionally linked to impairments in Theory of Mind (ToM), the ability to ascribe mental states to others. Although ToM impairments are consistently reported in young children with ASD, findings on more advanced ToM understanding in older individuals with high‐functioning ASD (HFASD) are less straightforward. Therefore, we assessed the advanced ToM abilities of a large sample of school‐aged children and adolescents with HFASD (n = 194; 6–20 years) and compared them to a typically developing (TD) comparison group (n = 60). Methods: Participants’ advanced ToM was assessed with five social stories containing second‐order false beliefs, display rules, double bluff, faux pas, and sarcasm. Results: Participants with HFASD performed equally well on each of the ToM stories as their TD peers. Consistent age effects were noticed with adolescents outperforming the children. Furthermore, advanced ToM was positively associated with participants’ age, verbal abilities, and general reasoning abilities. Conclusions: Counter to what the ToM theory of ASD would predict, school‐aged children and adolescents with HFASD seem to be able to master the theoretical principles of advanced mental state reasoning. However, they may still fail to apply these theoretical principles during everyday social interactions.     

The nature of trauma memories in acute stress disorder in children and adolescents

Background: There is increasing theoretical, clinical and research evidence for the role of trauma memory in the aetiology of acute pathological stress responses in adults. However, research into the phenomenology of trauma memories in young people is currently scarce. Methods: This study compared the nature of trauma narratives to narratives of unpleasant non‐traumatic events in young people (aged 8–17) who sought emergency medical attention following an assault or road traffic accident. Data were collected within 2–4 weeks of the index event. Symptom severity was assessed by child self‐report and face‐to‐face diagnostic interviews. Comparisons of narrative indices were made between those children with acute stress disorder (ASD) and those without ASD. Results: Among participants (n = 50), those with ASD (38%) had significantly elevated levels of disorganisation in their trauma narrative, compared both to trauma‐exposed controls and to their unpleasant comparative narrative. This effect was not accounted for by age. Regardless of ASD diagnostic status, trauma narratives had significantly higher sensory content and significantly lower positive emotion content compared to the unpleasant comparative narrative. These effects were not significant when age was included as a covariate. Acute symptom severity was significantly predicted by the level of disorganisation in the trauma narrative and the child’s cognitive appraisals of the event. Conclusions: These data provide the first empirical evidence that disorganisation is not only directly linked to symptom severity, but also specific to the trauma memory. In addition, it provides support for the adaptation of adult cognitive models to acute pathological stress reactions in children and adolescents.     

Attributing social meaning to ambiguous visual stimuli in higher-functioning autism and Asperger syndrome: The Social Attribution Task

More able individuals with autism and Asperger syndrome (AS) have been shown to pass relatively high level theory of mind (ToM) tasks without displaying commensurate levels of social adaptation in naturalistic settings. This paper presents a social cognitive procedure the Social Attribution Task (SAT) that reduces factors thought to facilitate ToM task performance without facilitating real-life social functioning. Sixty participants with autism (N = 20), AS (N = 20), and normally developing adolescents and adults (N = 20) with normative IQs were asked to provide narratives describing Heider and Simmel's (1944) silent cartoon animation in which geometric shapes enact a social plot. These narratives were coded in terms of the participants' abilities to attribute social meaning to the geometric cartoon. The SAT provides reliable and quantified scores on seven indices of social cognition. Results revealed marked deficits in both clinical groups across all indices. These deficits were not related to verbal IQ or level of metalinguistic skills. Individuals with autism and AS identified about a quarter of the social elements in the story, a third of their attributions were irrelevant to the social plot, and they used pertinent ToM terms very infrequently. They were also unable to derive psychologically based personality features from the shapes' movements. When provided with more explicit verbal information on the nature of the cartoon, individuals with AS improved their performance slightly more than those with autism, but not significantly so.     

Toxicity biomarkers in autism spectrum disorder: A blinded study of urinary porphyrins

Background: Recent studies suggest that children diagnosed with an autism spectrum disorder (ASD) have significantly increased levels of urinary porphyrins associated with mercury (Hg) toxicity, including pentacarboxyporphyrin (5cxP), precoproporphyrin (prcP), and coproporphyrin (cP), compared to typically developing controls. However, these initial studies were criticized because the controls were not age‐ and gender‐matched to the children diagnosed with an ASD. Methods: Urinary porphyrin biomarkers in a group of children (2–13 years of age) diagnosed with an ASD (n= 20) were compared to matched (age, gender, race, location, and year tested) group of typically developing controls (n= 20). Results: Participants diagnosed with an ASD had significantly increased levels of 5cxP, prcP, and cP in comparison to controls. No significant differences were found in non‐Hg associated urinary porphyrins (uroporphyrins, hexacarboxyporphyrin, and heptacarboxyporphyrin). There was a significantly increased odds ratio for an ASD diagnosis relative to controls among study participants with precoproporphyrin (odds ratio = 15.5, P < 0.01) and coproporphyrin (odds ratio = 15.5, P < 0.01) levels in the second through fourth quartiles in comparison to the first quartile. Conclusion: These results suggest that the levels of Hg‐toxicity‐associated porphyrins are higher in children with an ASD diagnosis than controls. Although the pattern seen (increased 5cxP, prcP, and cP) is characteristic of Hg toxicity, the influence of other factors, such as genetics and other metals cannot be completely ruled out.