Francesca Happe

BA (HONS) Experimental Psychology, PhD Psychology
Director and Head of Department

Publications

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    ABSTRACT: Most evidence to date highlights the importance of genetic influences on the liability to autism and related traits. However, most of these findings are derived from clinically ascertained samples, possibly missing individuals with subtler manifestations, and obtained estimates may not be representative of the population. To establish the relative contributions of genetic and environmental factors in liability to autism spectrum disorder (ASD) and a broader autism phenotype in a large population-based twin sample and to ascertain the genetic/environmental relationship between dimensional trait measures and categorical diagnostic constructs of ASD. We used data from the population-based cohort Twins Early Development Study, which included all twin pairs born in England and Wales from January 1, 1994, through December 31, 1996. We performed joint continuous-ordinal liability threshold model fitting using the full information maximum likelihood method to estimate genetic and environmental parameters of covariance. Twin pairs underwent the following assessments: the Childhood Autism Spectrum Test (CAST) (6423 pairs; mean age, 7.9 years), the Development and Well-being Assessment (DAWBA) (359 pairs; mean age, 10.3 years), the Autism Diagnostic Observation Schedule (ADOS) (203 pairs; mean age, 13.2 years), the Autism Diagnostic Interview-Revised (ADI-R) (205 pairs; mean age, 13.2 years), and a best-estimate diagnosis (207 pairs). Participants underwent screening using a population-based measure of autistic traits (CAST assessment), structured diagnostic assessments (DAWBA, ADI-R, and ADOS), and a best-estimate diagnosis. On all ASD measures, correlations among monozygotic twins (range, 0.77-0.99) were significantly higher than those for dizygotic twins (range, 0.22-0.65), giving heritability estimates of 56% to 95%. The covariance of CAST and ASD diagnostic status (DAWBA, ADOS and best-estimate diagnosis) was largely explained by additive genetic factors (76%-95%). For the ADI-R only, shared environmental influences were significant (30% [95% CI, 8%-47%]) but smaller than genetic influences (56% [95% CI, 37%-82%]). The liability to ASD and a more broadly defined high-level autism trait phenotype in this large population-based twin sample derives primarily from additive genetic and, to a lesser extent, nonshared environmental effects. The largely consistent results across different diagnostic tools suggest that the results are generalizable across multiple measures and assessment methods. Genetic factors underpinning individual differences in autismlike traits show considerable overlap with genetic influences on diagnosed ASD.
    JAMA Psychiatry 03/2015; · 12.01 Impact Factor
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    ABSTRACT: Little is known about the symptom profile of obsessive-compulsive disorder (OCD) in individuals who have autism spectrum disorders (ASD). It is also unknown whether self-report questionnaires are useful in measuring OCD in ASD. We sought to describe the symptom profiles of adults with ASD, OCD, and ASD + OCD using the Obsessive Compulsive Inventory-Revised (OCI-R), and to assess the utility of the OCI-R as a screening measure in a high-functioning adult ASD sample. Individuals with ASD (n = 171), OCD (n = 108), ASD + OCD (n = 54) and control participants (n = 92) completed the OCI-R. Individuals with ASD + OCD reported significantly higher levels of obsessive-compulsive symptoms than those with ASD alone. OCD symptoms were not significantly correlated with core ASD repetitive behaviors as measured on the ADI-R or ADOS-G. The OCI-R showed good psychometric properties and corresponded well with clinician diagnosis of OCD. Receiver operating characteristic analysis suggested cut-offs for OCI-R Total and Checking scores that discriminated well between ASD + versus -OCD, and fairly well between ASD-alone and OCD-alone. OCD manifests separately from ASD and is characterized by a different profile of repetitive thoughts and behaviors. The OCI-R appears to be useful as a screening tool in the ASD adult population. Autism Res 2015. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.
    Autism Research 02/2015; DOI:10.1002/aur.1461 · 4.53 Impact Factor
  • Mette Elmose, Francesca Happé
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    ABSTRACT: Self-awareness was investigated by assessing accuracy of judging own memory performance in a group of children with autism spectrum disorder (ASD) compared with a group of typically developing (TD) children. Effects of stimulus type (social vs. nonsocial), and availability of feedback information as the task progressed, were examined. Results overall showed comparable levels and patterns of accuracy in the ASD and TD groups. A trend level effect (p = 061, d = 0.60) was found, with ASD participants being more accurate in judging own memory for nonsocial than social stimuli and the opposite pattern for TD participants. These findings suggest that awareness of own memory can be good in children with ASD. It is discussed how this finding may be interpreted, and it is suggested that further investigation into the relation between content, frequency, and quality of self-awareness, and the context of self-awareness, is needed. Autism Res 2014, ●●: ●●–●●. © 2014 International Society for Autism Research, Wiley Periodicals, Inc.
    Autism Research 12/2014; 7(6). DOI:10.1002/aur.1421 · 4.53 Impact Factor
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    ABSTRACT: Childhood epilepsy is associated with a range of neurobehavioural comorbidities including Attention-Deficit/Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), motor impairments and emotional problems. These difficulties frequently have a greater impact on quality of life than seizures. Pathological Demand Avoidance (PDA) is a term increasingly in use in the UK and Europe to describe behaviours associated with an extreme resistance to demands and requests and the need to be in control in social interactions. In a population-based group of 85 children with epilepsy, four (5%) were identified as displaying significant symptoms of PDA, were assessed using the Extreme Demand Avoidance Questionnaire (EDA-Q) and are described in detail. As well as significant symptoms of PDA, the four children met criteria for a range of neurobehavioural disorders; all four had cognitive impairment (IQ < 85) and met DSM-IV-TR criteria for ADHD. Three, in addition, met criteria for ASD and Developmental Coordination Disorder (DCD) and two for Oppositional Defiant Disorder (ODD). All four experienced their first seizure before 5 years of age. School and parent reports indicated very significant functional impairment and management concerns, particularly with respect to complying with everyday demands. Symptoms of PDA should be considered when evaluating neurobehavioural comorbidity in childhood epilepsy.
    Research in Developmental Disabilities 12/2014; 35(12):3236–3244. DOI:10.1016/j.ridd.2014.08.005 · 3.40 Impact Factor
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    ABSTRACT: Categorization decisions that reflect constantly changing memory representations might be an important adaptive response to dynamic environments. We assessed One such influence from memory (i.e., sequence effects) on categorization decisions made by individuals with autism. A model of categorization (i.e., memory and contrast model, Stewart, Brown, & Chater, 2002) assumes that contextual influences in the form of sequence effects drive categorization performance in individuals with typical development. Difficulties with contextual processing in autism, described by the weak central coherence account (Frith, 1989; Frith & Happé, 1994) imply reduced sequence effects for this participant group. The experiment reported in this article tested this implication. High-functioning children and adolescents with autism (ages 10 to 15 years), matched on age and IQ with typically developing children, completed a test that measures sequence effects (i.e., category contrast effect task, Stewart et al., 2002) using auditory tones. Participants also completed a pitch discrimination task to measure any potential confound arising from possible enhanced discrimination sensitivity within the autism spectrum disorder group. The typically developing group alone demonstrated a category contrast effect. The data suggest that this finding cannot be attributed readily to participant group differences in discrimination sensitivity, perseveration, difficulties on the associated binary categorization task, or greater reliance on long-term memory. We discuss the broad methodological implication that comparison between autism spectrum disorder group and control group responses to sequential perceptual stimuli might be confounded by the influence of preceding trials. We also discuss implications for the weak central coherence account and models of typical cognition. (PsycINFO Database Record (c) 2014 APA, all rights reserved).
    Journal of Experimental Psychology General 11/2014; 144(1). DOI:10.1037/a0038204 · 5.50 Impact Factor
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    ABSTRACT: Background The behavioural symptoms of autism spectrum disorder (ASD) are thought to reflect underlying cognitive deficits/differences. The findings in the literature are somewhat mixed regarding the cognitive features of ASD. This study attempted to address this issue by investigating a range of cognitive deficits and the prevalence of multiple cognitive atypicalities in a large population-based sample comprising children with ASD, their unaffected co-twins, and typically developing comparison children.Methods Participants included families from the Twins Early Development Study (TEDS) where one or both children met diagnostic criteria for ASD. Overall, 181 adolescents with a diagnosis of ASD and 73 unaffected co-twins were included, plus an additional 160 comparison control participants. An extensive cognitive battery was administered to measure IQ, central coherence, executive function, and theory of mind ability.ResultsDifferences between groups (ASD, co-twin, control) are reported on tasks assessing theory of mind, executive function, and central coherence. The ASD group performed atypically in significantly more cognitive tasks than the unaffected co-twin and control groups. Nearly a third of the ASD group presented with multiple cognitive atypicalities.Conclusions Multiple cognitive atypicalities appear to be a characteristic, but not universal feature, of ASD. Further work is needed to investigate whether specific cognitive atypicalities, either alone or together, are related to specific behaviours characteristic of ASD.
    Journal of Child Psychology and Psychiatry 11/2014; DOI:10.1111/jcpp.12362 · 5.67 Impact Factor
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    ABSTRACT: Co-morbid mental health conditions are highly prevalent in autism spectrum disorders (ASD). Cognitive behaviour therapy (CBT) is frequently used to treat these symptoms. Hence, a systematic review was undertaken to synthesise published data about the effectiveness of CBT interventions for adults with ASD and psychiatric co-morbidity. Only six studies met pre-determined review inclusion criteria: two RCTs; one quasi-experimental study; one case series; and two case studies. Meta-analysis was not possible due to study heterogeneity. A narrative analysis of the data suggested that CBT interventions – including behavioural, cognitive, and mindfulness-based techniques – were moderately effective treatments for co-morbid anxiety and depression symptoms, albeit that sample sizes were small, participant characteristics varied widely, and psychometric properties of self-report outcome measurements utilised in the ASD population remain subject to some debate. Several studies described adaptations to standard CBT including an increase in the number of sessions, or accommodation of core ASD characteristics and associated neuropsychological impairments within the therapy process. We suggest further empirical research is needed to (1) investigate the acceptability and effectiveness of a range of CBT interventions for adults who have ASD and co-morbidity, and (2) to identify which adaptations are requisite for optimising CBT techniques and outcomes in this population.
    Research in Autism Spectrum Disorders 11/2014; 9. DOI:10.1016/j.rasd.2014.10.019 · 2.96 Impact Factor
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    ABSTRACT: Language difficulties have historically been viewed as integral to autism spectrum conditions (ASC), leading molecular genetic studies to consider whether ASC and language difficulties have overlapping genetic bases. The extent of genetic, and also environmental, overlap between ASC and language is, however, unclear. We hence conducted a twin study of the concurrent association between autistic traits and receptive language abilities. Internet-based language tests were completed by ∼3,000 pairs of twins, while autistic traits were assessed via parent ratings. Twin model fitting explored the association between these measures in the full sample, while DeFries-Fulker analysis tested these associations at the extremes of the sample. Phenotypic associations between language ability and autistic traits were modest and negative. The degree of genetic overlap was also negative, indicating that genetic influences on autistic traits lowered language scores in the full sample (mean genetic correlation = −0.13). Genetic overlap was also low at the extremes of the sample (mean genetic correlation = 0.14), indicating that genetic influences on quantitatively defined language difficulties were largely distinct from those on extreme autistic traits. Variation in language ability and autistic traits were also associated with largely different nonshared environmental influences. Language and autistic traits are influenced by largely distinct etiological factors. This has implications for molecular genetic studies of ASC and understanding the etiology of ASC. Additionally, these findings lend support to forthcoming DSM-5 changes to ASC diagnostic criteria that will see language difficulties separated from the core ASC communication symptoms, and instead listed as a clinical specifier. © 2014 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part B Neuropsychiatric Genetics 10/2014; 165(7). DOI:10.1002/ajmg.b.32262 · 3.27 Impact Factor
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    ABSTRACT: Individuals with autism spectrum disorder (ASD) and low intellectual/language abilities are often omitted from experimental studies because of the challenges of testing these individuals. It is vital to develop appropriate and accessible tasks so that this significant part of the spectrum is not neglected. The theory of mind (ToM) has been extensively assessed in ASD, predominantly in relatively high-functioning individuals with reasonable language skills. This study aims to assess the ToM abilities of a sample of 132 participants with intellectual disability (ID) with and without ASD, matched in verbal mental age (VMA) and chronological age, using a naturalistic and nonverbal deception task: the Penny Hiding Game (PHG). The relationship between performance on the PHG and everyday adaptation was also studied. The PHG proved accessible to most participants, suggesting its suitability for use with individuals with low cognitive skills, attentional problems, and limited language. The ASD + ID group showed significantly more PHG errors, and fewer tricks, than the ID group. PHG performance correlated with Vineland adaptation scores for both groups. VMA was a major predictor of passing the task in both groups, and participants with ASD + ID required, on average, 2 years higher VMA than those with ID only, to achieve the same level of PHG success. VMA moderated the association between PHG performance and real-life social skills for the ASD + ID more than the ID group, suggesting that severely impaired individuals with ASD may rely on verbal ability to overcome their social difficulties, whereas individuals with ID alone may use more intuitive social understanding both in the PHG and everyday situations. Autism Research 2014, 7: 608–616. © 2014 International Society for Autism Research, Wiley Periodicals, Inc.
    Autism Research 10/2014; 7(5). DOI:10.1002/aur.1405 · 4.53 Impact Factor
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    ABSTRACT: Autism Spectrum Disorder (ASD) is diagnosed on the basis of behavioral symptoms, but cognitive abilities may also be useful in characterizing individuals with ASD. One hundred seventy-eight high-functioning male adults, half with ASD and half without, completed tasks assessing IQ, a broad range of cognitive skills, and autistic and comorbid symptomatology. The aims of the study were, first, to determine whether significant differences existed between cases and controls on cognitive tasks, and whether cognitive profiles, derived using a multivariate classification method with data from multiple cognitive tasks, could distinguish between the two groups. Second, to establish whether cognitive skill level was correlated with degree of autistic symptom severity, and third, whether cognitive skill level was correlated with degree of comorbid psychopathology. Fourth, cognitive characteristics of individuals with Asperger Syndrome (AS) and high-functioning autism (HFA) were compared. After controlling for IQ, ASD and control groups scored significantly differently on tasks of social cognition, motor performance, and executive function (P's < 0.05). To investigate cognitive profiles, 12 variables were entered into a support vector machine (SVM), which achieved good classification accuracy (81%) at a level significantly better than chance (P < 0.0001). After correcting for multiple correlations, there were no significant associations between cognitive performance and severity of either autistic or comorbid symptomatology. There were no significant differences between AS and HFA groups on the cognitive tasks. Cognitive classification models could be a useful aid to the diagnostic process when used in conjunction with other data sources-including clinical history. Autism Res 2014, ●●: ●●-●●. © 2014 International Society for Autism Research, Wiley Periodicals, Inc.
    Autism Research 10/2014; 7(5). DOI:10.1002/aur.1394 · 4.53 Impact Factor
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    ABSTRACT: One potential source of heterogeneity within autism spectrum conditions (ASC) is language development and ability. In 80 high-functioning male adults with ASC, we tested if variations in developmental and current structural language are associated with current neuroanatomy. Groups with and without language delay differed behaviorally in early social reciprocity, current language, but not current autistic features. Language delay was associated with larger total gray matter (GM) volume, smaller relative volume at bilateral insula, ventral basal ganglia, and right superior, middle, and polar temporal structures, and larger relative volume at pons and medulla oblongata in adulthood. Despite this heterogeneity, those with and without language delay showed significant commonality in morphometric features when contrasted with matched neurotypical individuals (n = 57). In ASC, better current language was associated with increased GM volume in bilateral temporal pole, superior temporal regions, dorsolateral fronto-parietal and cerebellar structures, and increased white matter volume in distributed frontal and insular regions. Furthermore, current language-neuroanatomy correlation patterns were similar across subgroups with or without language delay. High-functioning adult males with ASC show neuroanatomical variations associated with both developmental and current language characteristics. This underscores the importance of including both developmental and current language as specifiers for ASC, to help clarify heterogeneity.
    Cerebral Cortex 09/2014; DOI:10.1093/cercor/bhu211 · 8.31 Impact Factor
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    ABSTRACT: In most research it is common to report results on a group level. For example, various studies report that children and adults with autism show executive function deficits. However, studies often differ in the pattern of findings. We believe this might be partly due to the heterogeneity of the autism population. Put differently, some people with autism might indeed have executive dysfunctions, but this does not mean that everybody with autism has such a deficit. In the current study we re-analysed published data from children with autism, children with Attention Deficit/Hyperactivity Disorder (also associated with executive dysfunction) and children without a clinical diagnosis. A surprisingly small number of children did indeed have executive function deficits. However, children with a clinical diagnosis had executive function deficits more often than those without a diagnosis. These findings show us that besides reporting findings on a group level, researchers need to report findings on an individual level. Understanding the differences between individuals with autism might help us in pinpointing differences in etiology, prognosis, and treatment response. Different subsets of autism symptoms might be genetically partly independent. With respect to cognition, this may imply that one cognitive theory is unlikely to explain all symptoms and that there will be large individual differences in cognitive deficits/assets between individuals with autism. However, most journal articles report only group differences, treating individual differences more or less as ‘noise’ in the data. In the current study, we reanalyzed data from three independent studies (totaling 93 children with autism spectrum disorders (ASDs), 104 children with attention deficit hyperactivity disorder (ADHD), and 93 typically developing children) to examine the degree of heterogeneity in executive function deficits. The three main findings were that (1) only a small percentage of children with ASD had a significant deficit in measured executive function; (2) there is not just heterogeneity within ASD groups, but also across studies, and (3) in line with Nigg and colleagues (2005), only a small number of children with ADHD showed a significant inhibitory control deficit. Executive (dys)function cannot be a marker for ASD as defined in the DSM, but might have potential as a specifier like IQ and language. This is in line with the idea that the executive function account cannot be a sole explanation for ASD. The findings do suggest that an individual differences approach might give us more information on potential subtypes within the autism spectrum. Future research is needed to define and test neuropsychological subtypes and their external correlates, including etiology, prognosis, and treatment response.
    07/2014; 60(3):155-162. DOI:10.1179/2047387714Y.0000000047
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    ABSTRACT: Autism spectrum disorder is a complex condition that requires specialised care. Knowledge of the costs of autism spectrum disorder, especially in comparison with other conditions, may be useful to galvanise policymakers and leverage investment in education and intervention to mitigate aspects of autism spectrum disorder that negatively impact individuals with the disorder and their families. This article describes the services and associated costs for four groups of individuals: adolescents with autistic disorder, adolescents with other autism spectrum disorders, adolescents with other special educational needs and typically developing adolescents using data from a large, well-characterised cohort assessed as part of the UK Special Needs and Autism Project at the age of 12 years. Average total costs per participant over 6 months were highest in the autistic disorder group (£11,029), followed by the special educational needs group (£9268), the broader autism spectrum disorder group (£8968) and the typically developing group (£2954). Specialised day or residential schooling accounted for the vast majority of costs. In regression analysis, lower age and lower adaptive functioning were associated with higher costs in the groups with an autism spectrum disorder. Sex, ethnicity, number of International Classification of Diseases (10th revision) symptoms, autism spectrum disorder symptom scores and levels of mental health difficulties were not associated with cost.
    Autism 06/2014; DOI:10.1177/1362361314536626 · 2.27 Impact Factor
  • Melissa D Stockbridge, Francesca G E Happé, Sarah J White
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    ABSTRACT: Individuals on the higher-functioning end of the autism spectrum have significant impairments in communication. Language delay can occur, particularly in syntactic or structural linguistic knowledge. However, classically observed semantic deficits generally overshadow these structural deficits. This research examined the potential effects on comprehension of dative expressions that exhibited syntactic alternation versus those that were restricted, whether in syntactic construction or through marked semantic differences in construction. Children with autism and matched neurotypical control participants were presented with a sentence battery of dative statements representing these variations in construction and were asked to display basic comprehension of the sentence meaning by identifying the recipient, or indirect object, of the dative verb. Construction, restriction, and semantic differentiation variables were analyzed for potential effects on the rate of accurate comprehension. Both groups performed with greater accuracy when dative expressions used a prepositional phrase than when the dative action was expressed in the syntax. The autism group performed more poorly when the dative expression could syntactically alternate than when it was restricted. These effects improve our knowledge of how children with autism understand alternating grammatical constructions. Autism Res 2013, ●●: ●●●-●●●. © 2013 International Society for Autism Research, Wiley Periodicals, Inc.
    Autism Research 06/2014; 7(3). DOI:10.1002/aur.1348 · 4.53 Impact Factor
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    ABSTRACT: Background: Evidence from twin and family studies to date has shown that liability to autism impairments in social communication and interest patterns extends beyond the traditional categorical diagnostic boundaries, thus leading to broadening of diagnostic criteria to include other developmental subtypes. The Autism Spectrum Disorder diagnosis was therefore re-conceptualised as the extreme end of dimensionally distributed set of autistic traits in the population, rather than a separate behavioural entity. Most recent twin studies further confirmed that the genetic factors responsible for the variation of autism trait scores in the population are likely to be the same for the extreme trait scores at the end tail of the same distribution. Objectives: To define the relative genetic (A), shared (C) and unique (E) environmental influences on the hypothetical overlap between the continuous measure of autism traits (Children Autism Spectrum Test, CAST) in a large population of UK twins and a sub sample of the same cohort in which at least one twin has received a clinical diagnosis of Broad Spectrum or ASD, assessed by DAWBA/ADOS/ADI-R and an overall Consensus Diagnosis (CD). Additionally, we wanted to validate findings of a recent study reporting the importance of shared (C) environmental influences (Hallmayer et al, 2011) in clinical autism/ASD diagnosis. Methods: The genetic and environmental parameters were estimated in a bivariate continuous-ordinal liability threshold model. To account for the selected nature of the sample the thresholds were fixed to 'known' population z- values: the 1st threshold discriminating between categories 0 and 1 was fixed at 5% (Broad Spectrum) and the 2nd threshold discriminating between 1 and 2 was set to 1% (ASD). Results: Cross-twin within-trait correlations for CAST, ADOS and CD indicated no role of shared environment (C), except for ADI-R; whereas dominant rather than additive genetic effects were indicated for the DAWBA. The cross-twin cross-trait correlations between CAST and ADI-R, ADOS and CD all indicated mainly genetic and unique environmental influences on the covariance. The phenotypic overlap (rph) between CAST and all clinical measures were moderate to high (.52 to .65) and mostly influenced by genes (rph-A for DAWBA=.40, ADI-R=.58, ADOS=.56 & CD=.60) and the remainder explained by unique environments (rph-E: DAWBA=.12, ADI-R=.03, CD=.05) but not significantly so for ADOS (rph-E=-.02). No shared environmental factors acted on the covariance between CAST and clinical measures. Conclusions: In the first study of this kind, we revealed a phenotypic overlap between continuous and ordinal measures of autistic traits and ASD and that this is largely due to genetic factors.
    2014 International Meeting for Autism Research; 05/2014
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    ABSTRACT: Background: Given the pivotal role of face processing in modulating social-communication, face processing deficits in ASD are increasingly viewed as potential “intermediate phenotypes” or “cognitive risk factors”. However, previous studies have reported mixed results. From a treatment/ intervention perspective, a better understanding of the nature, frequency and severity of deficits of face processing abnormalities is still needed. Moreover, identification of underpinning factors is vital in order to inform interventions that go beyond the effort to increase performance levels and will instead target abnormalities in the underlying processes themselves. Objectives: (1) To systematically test whether people with ASD have deficits in different stages and aspects of face processing, including face detection, face perception, face memory, gender recognition, basic and complex emotion recognition, as well as object recognition. (2) To investigate whether face memory could be improved by altering (or “normalising”) the way people with ASD encode faces. Typically developing adults readily make social judgements when viewing novel faces (“is he nice or nasty?”). We hypothesised that in ASD this spontaneous tendency may be reduced and contributes to face memory deficits. Therefore, the explicit instruction to rate the trustworthiness of novel faces was predicted to increase face memory specifically in the ASD group. Methods: 40 adults with ASD and 20 typically developing adults matched on sex, age and IQ completed a battery of computerised face processing tests. The battery comprised tests of face detection, the Cambridge Face Perception Task (CFPT), The Cambridge Face Memory Task (CFMT), a gender morph task, the Fleeting Films task, perceptual tests of happy/ angry emotion expressions, and a simple object recognition task. A modified version of the CFMT was created in which participants were asked to rate the trustworthiness of novel male faces during the encoding stage. Results: The ASD group showed significant impairments across all three stages of face processing (face detection p=.012, face perception, p=.008, face memory p=.0001), as well as in recognizing complex “fleeting” emotions from faces (p <.000001). Impairments were also found in recognizing two of three object categories but not in basic emotion perception (angry and happy faces) or gender matching ( all p >.08) . Analyses of individual scores revealed that deficits were most frequent and profound on the fleeting films task with 89% of people with ASD performing below 2 SDs of the TD control group mean. Furthermore, severity of deficits were dimensionally correlated with autistic symptoms (r = -.44, p=.003). 36.8% of adults with ASD also showed strong deficits in face memory ( < 2SDs) and 68% had moderately-strong deficits (between 1-2 SDs). In addition, the trustworthiness-rating instruction yielded significantly improved face memory in both the ASD and TD groups. Conclusions: Using sensitive tests, people with ASD showed significant deficits across all stages of face processing and profound impairments in recognizing fleeting emotions. While improvements in face memory after the trustworthiness manipulation were not specific to the ASD group, our findings indicate the potential usefulness of interventions that emphasise social judgments during face encoding.
    2014 International Meeting for Autism Research; 05/2014
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    ABSTRACT: Background: Autism spectrum disorder (ASD) is behaviourally defined by the presence of social and communication impairments and restricted and repetitive behaviours. The clinical phenotype is characterised by considerable heterogeneity, with individuals presenting with severe impairments through to more subtle deficits. This heterogeneity is often considered as a hindrance in the study of the aetiology and genetics of ASD. Objectives: (1) To identify homogeneous subgroups within ASD using a Factor Mixture Modelling (FMM) approach. (2) To explore the similarities/differences of individuals assigned to each subgroup in terms of age, gender, diagnosis, and their symptom and cognitive profiles. Methods: Participants were drawn from a large population-based sample of adolescent twins. The sample consisted of 251 individuals (M=13.5, SD=0.68; 174 males). 137 participants had a diagnosis of ASD (M=13.51 years, SD=0.73; 118 males), 40 had a diagnosis of broad spectrum autism (M=13.40 years, SD=0.56; 30 males), and 72 were unaffected co-twins (M=13.49 years, SD=0.65; 26 males). All twin pairs were behaviourally assessed for ASD symptomatology using parent report (Autism Diagnostic Interview-Revised, ADI-R) and direct observation (Autism Diagnostic Observation Schedule-Generic, ADOS-G). All twin pairs were also administered an extensive cognitive battery to measure IQ, language ability, theory of mind ability, executive functioning, and central coherence. Analyses: FMM combines latent class analysis and confirmatory factor analysis to stratify individuals into relatively more homogeneous subgroups. Factor mixture models were tested using the raw subscale scores of the 37 items from the ADI-R. To guide the choice of the number of classes and factors for the FMMs, six latent class analyses (one-to-six classes) and three confirmatory factor analyses (one-to-three factors) were carried out. The fit of these models was assessed using goodness-of-fit criteria. Results: Overall, a ‘two-factor, five classes’ FMM was chosen as the best fit of the data. According to this final FMM, individuals could be classified into five relatively homogeneous classes (C1: 23%, C2: 18%, C3: 17%, C4: 29%, C5: 13%, of the sample). A two factor solution fitted the data best; one factor corresponding to social/communication deficits, and a second factor corresponding to restricted and repetitive behaviour impairments. Age did not differ across the five classes. There were a higher proportion of females in C1 and C2, with a higher proportion of males in C3, C4, and C5. The proportion of ASD diagnosis differed across the five classes, with C5 comprising only of ASD diagnoses. IQ also differed across classes. Individuals assigned to C1 had the lowest social and communication impairments, with few restricted and repetitive behaviours. The severity of ASD symptoms significantly increased through C3 to C5, with individuals assigned to C5 showing the most severe impairments. However, the cognitive profile across the five classes was similar. Conclusions: Five subgroups were identified using an FMM approach, which were largely based on symptom severity. Across the subgroups, individuals received different diagnoses, had a differing IQ profile, and a differing symptom profile. Age and cognitive profile was stable across subgroups. The findings also support the two symptom dimensions of ASD, as proposed in the DSM-5.
    2014 International Meeting for Autism Research; 05/2014
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    ABSTRACT: Background: Adaptive skills have been defined as key to the later outcome of individuals with ASD (Sparrow et al. 2005). However, individuals with ASD experience difficulties in everyday life regardless of cognitive ability (Black et al. , 2009). Contrary to TD, where IQ is closely related to adaptive skills, in ASD there seem to be a discrepancy between measures (Bolte & Poustka, 2002). In the case of individuals with Intellectual disability (ID) associated to ASD, IQ has been reported higher than adaptive skills (Perry et al., 2009) although adaptive skills remain more impaired than in the case of individuals with ID alone (Bolte & Poustka, 2002). In terms of mental age, individuals with ASD+ID present a distinctive adaptive profile (high motor skills, followed by daily living communication, and social skills; Perry et at., 2009). Although this profile was also reported for ID alone individuals, authors found significant differences between groups, concluding that ASD+ID individuals are socially impaired on adapting to everyday life over and above individuals of similar mental ages but not ASD. Teachers are a valuable source of information as the school is a very rich socio and educational environment. To date, no study has explored IQ/Mental Age in relation to adaptive skills as reported by teachers. Objectives: To examine the intelligence and developmental level of individuals with ID, with and without ASD, in relation to adaptive skills as reported by teachers reports. To explore whether the profile described by Perry and colleagues (2009) is replicated in relation to low‑functioning individuals. Methods: Data was gathered from a sample of 33 individuals with ASD+ID and 37 individuals with ID alone (age range 5 -17) matched in Performance and Verbal MA, obtained from the Ravens Coloured Progressive Matrices (RPCM), and the British Picture Vocabulary Scales (BPVS) respectively. Adaptive skills were measured using the Vineland Adaptive Behaviour Skills Teacher Rating Form (VABS, Sparrow et al., 2006). Results: IQ comparisons were not possible due to the high number of individuals with IQ below basal scores (n = 20), or who fell outside the IQ age range (n = 17). VMA correlated significantly in ID with the social sub-domains of the VABS (all r > .53; all p < .001), but only interpersonal relationships for individuals with ASD+ID (r = .54, p = .001). PMA correlated significantly in ID with Living Skills School and socialization interpersonal (r > .64, p < .001) but not in ASD+ID. Conclusions: Results show a very distinct profile in the adaptive skills of individuals with ID with and without ASD. In ID, VMA play an important role on adaptive skills in general, while academic, school, and social interpersonal relationships are also mediated by PMA. In the case of ASD+ID, mental age seemed to be associated with academic skills, and VMA specifically to the relationships with others. The results here presented show how the socialization impairment characteristic of ASD may result in a significant adaptability deficit – measured from teacher ratings - beyond their intellectual disability.
    2014 International Meeting for Autism Research; 05/2014

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