Standardizing ADOS Scores for a Measure of Severity in Autism Spectrum Disorders

The aim of this study is to standardize Autism Diagnostic Observation Schedule (ADOS) scores within a large sample to approximate an autism severity metric. Using a dataset of 1,415 individuals aged 2–16 years with autism spectrum disorders (ASD) or nonspectrum diagnoses, a subset of 1,807 assessments from 1,118 individuals with ASD were divided into narrow age and language cells. Within each cell, severity scores were based on percentiles of raw totals corresponding to each ADOS diagnostic classification. Calibrated severity scores had more uniform distributions across developmental groups and were less influenced by participant demographics than raw totals. This metric should be useful in comparing assessments across modules and time, and identifying trajectories of autism severity for clinical, genetic, and neurobiological research.     

Implicit Semantic Processing of Linguistic and Non-linguistic Stimuli in Adults with Autism Spectrum Disorder

Journal of Autism and Developmental Disorders - While many individuals with autism spectrum disorder (ASD) experience difficulties with language processing, non-linguistic semantic processing may...     

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

Microdeletions and microduplications encompassing a ~593-kb region of 16p11.2 have been implicated as one of the most common genetic causes of susceptibility to autism/autism spectrum disorder (ASD). We report 45 microdeletions and 32 microduplications of 16p11.2, representing 0.78% of 9,773 individuals referred to our laboratory for microarray-based comparative genomic hybridization (aCGH) testing for neurodevelopmental and congenital anomalies. The microdeletion was de novo in 17 individuals and maternally inherited in five individuals for whom parental testing was available. Detailed histories of 18 individuals with 16p11.2 microdeletions were reviewed; all had developmental delays with below-average intelligence, and a majority had speech or language problems or delays and various behavioral problems. Of the 16 individuals old enough to be evaluated for autism, the speech/behavior profiles of seven did not suggest the need for ASD evaluation. Of the remaining nine individuals who had speech/behavior profiles that aroused clinical suspicion of ASD, five had formal evaluations, and three had PDD-NOS. Of the 19 microduplications with parental testing, five were de novo, nine were maternally inherited, and five were paternally inherited. A majority with the microduplication had delayed development and/or specific deficits in speech or language, though these features were not as consistent as seen with the microdeletions. This study, which is the largest cohort of individuals with 16p11.2 alterations reported to date, suggests that 16p11.2 microdeletions and microduplications are associated with a high frequency of cognitive, developmental, and speech delay and behavior abnormalities. Furthermore, although features associated with these alterations can be found in individuals with ASD, additional factors are likely required to lead to the development of ASD.     

Sexuality in a community based sample of adults with autism spectrum disorder

Few studies have examined the sexual attitudes and behaviours of individuals with high functioning autism spectrum disorders (ASDs) living in community settings. A total of 82 (55 female and 17 male) adults with autism were contrasted with 282 members of the general population on their responses to an online survey of sexual knowledge and experiences. Findings revealed that individuals with ASD display an interest in sex and engage in sexual behaviours and showed no significant differences in breadth and strength of sexual behaviours and comprehension of sexual language when contrasted with non-ASD participants. However, despite these similarities, a higher rate of asexuality was found among individuals with ASD. In addition, the results of the current study indicated that females with ASD show a significantly lower degree of heterosexuality when compared to males with ASD. The results also suggested a higher degree of homosexuality among females with ASD although this effect did not reach significance.     

Age-Related Changes in the Anatomy of Language Regions in Autism Spectrum Disorder

Impairments in language and communication are core features of autism spectrum disorder (ASD). The anatomy of critical language areas has been studied in ASD with inconsistent findings. We used MRI to measure gray matter volume and asymmetry of Heschl’s gyrus, planum temporale, pars triangularis, and pars opercularis in 40 children and adolescents with ASD and 40 typically developing individuals, each divided into younger (7–11 years) and older (12–19 years) cohorts. The older group had larger left planum temporale volume and stronger leftward asymmetry than the younger group, regardless of diagnosis. The pars triangularis and opercularis together were larger in ASD than controls. Correlations between frontal language areas with language and symptom severity scores were significant in younger ASD children. Results suggest similar developmental changes in planum temporale anatomy in both groups, but group differences in pars triangularis and opercularis that may be related to language abilities and autism symptom severity.     

Language assessment in children with autism spectrum disorder: Concurrent validity between report-based assessments and direct tests

Impairments in expressive and receptive language are common in individuals with autism spectrum disorder (ASD). Therefore, the importance of language assessment is emphasized in e.g. DSM-5. Thus, studies addressing the validity of different language measures are important. Parents and preschool teachers of 55 children diagnosed with childhood autism separately filled out the Communicative Development Inventory (CDI), a widely used report-based assessment of language. The children were also tested with the two standardized direct language tests: Reynell Developmental Language Scales (RDLS) and Mullen Scales of Early Learning (MSEL). Concurrent validity across the three measures was investigated. The results suggested very high agreement between the measures, and this was found regardless of whether parents or preschool teachers filled out the CDI. Given the difficulty in testing children with low language levels, as often is the case in young children with ASD, this study shows that several valid measures are available for measuring expressive and receptive language.     

Description of a Danish Nationwide Survey of Adolescents and Adults Diagnosed With Autism Spectrum Disorders in Childhood: The AutCome Study

ABSTRACT

A nationwide survey of children diagnosed with autism spectrum disorders (ASD) was conducted with the aim of exploring outcomes in adolescence and adulthood. The purpose of this article is to evaluate the representativeness of the study population and to describe the study population. In total, 1,734 parents and 933 individuals with ASD returned the questionnaire, which included information from individuals with ASD and their parents. The study population was found to be representative of individuals diagnosed with ASD in childhood at Danish psychiatric hospitals. Compared to other ASD populations, lower rates of intellectual disability, psychiatric comorbidity, language difficulties, and epilepsy were found.     

Attention-deficit/hyperactivity disorder (AD/HD) in autism spectrum disorder

The purpose of this review is to provide an overview of the research on attention-deficit/hyperactivity disorder (AD/HD) in individuals with autism spectrum disorder (ASD). Topics explored are the prevalence of AD/HD, the importance of studying AD/HD, as well as the questionnaire measures used to measure AD/HD in individuals with ASD. Research on the relationship between AD/HD in ASD and parental stress and psychological distress, developmental regression, language and communication, adaptive behavior, social skills, autism severity, challenging behavior, comorbid psychopathology, gastrointestinal symptoms, sleep problems, epilepsy, sensory issues, motor difficulties, and quality of life are also discussed. Research on cardiac reactivity and executive functioning are also explored. Finally, recommendations for treatment are given as well as areas where future research is needed.     

Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum

As part of a multidisciplinary study, the rate of autism spectrum disorder (ASD), learning disability (LD), and brain abnormalities was examined in 20 participants (12 males, 8 females; age range 8mo-17y, mean age 8y 1mo) diagnosed as falling within the oculoauriculovertebral spectrum (OAV). A neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Two individuals met diagnostic criteria for autism, one for autistic-like condition, and five for autistic traits. Four patients had mild LD, three severe LD, two profound LD, and two borderline intellectual functioning. Neuroimaging indicated cerebral abnormalities in more than half of the patients. Abnormalities of white/grey matter were found in more than half of examined individuals; enlargement of ventricles in more than a third. Results indicate that at least a subgroup of ASD may be associated with errors in early embryonic brain development. Awareness of the coexistence of OAV/ASD is important in habilitation care of individuals with OAV.     

Delayed mismatch field for speech and non-speech sounds in children with autism

This study investigated the magnetic mismatch field elicited by changes in streams of vowels or spectrally matched tones in children with autism spectrum disorder (ASD) relative to children with typical development to explore whether impaired sound discrimination may contribute to language impairments in autism spectrum disorder. Using magnetoencephalography, we recorded evoked neural activity to 300-Hz and 700-Hz tones (and /u/ and /a/ vowels) presented in an oddball paradigm with deviant stimuli (15%) occurring within a train of standards (85%). The magnetic mismatch field was robustly observed in both groups, but children with autism spectrum disorder demonstrated a significantly delayed magnetic mismatch field compared with typically developing peers. Difficulty parsing transient differences in sounds may lead to impaired acoustic or phonological representations and subsequent language impairment in autism spectrum disorder.     

Spontaneous communication in autism spectrum disorder: A review of topographies and interventions

Lack of spontaneous communicative initiations appears to be a consistent problem in individuals with a diagnosis of autism spectrum disorder (ASD; Fujiki & Brinton, 2009). Spontaneous communication is emitted at a much lower frequency compared to individuals with language impairment and typically developing persons. Deficits of spontaneity in social interaction have been identified explicitly in the diagnostic criteria for autism, regardless of communication level or ability (American Psychiatric Association, 1994). In addition, without intervention 21–66% of children with ASD do not develop communicative speech (Lord & McGee, 2001). Individuals with autism rarely initiate appropriate speech and often fail to engage in typical social interactions such as asking questions, requesting information, expressing affection or requesting interactions (Carr & Kologinsky, 1983). This paper provides a review of the communicative topographies used to ameliorate spontaneous communication functions in individuals with autism and addresses the behavioral interventions that are used to induce such spontaneity.     

Autism Spectrum Symptomatology in Children with Williams Syndrome Who Have Phrase Speech or Fluent Language

To characterize autism spectrum-related symptomatology in children with Williams syndrome (WS) with phrase speech or fluent language, the Autism Diagnostic Observation Schedule Module 2 or 3 was administered. The cutoff for autism spectrum was met by 35% (14/40) who completed Module 2 and 30% (18/60) who completed Module 3. Similarities and differences in socio-communicative strengths and weaknesses as a function of language ability were identified. Symptom severity was negatively associated with IQ for participants with phrase speech but not for those with fluent language. The findings suggest an elevated risk of ASD for individuals with WS relative to the general population and contribute to a more nuanced sense of the socio-communicative functioning of children with WS.     

The SWedish Eating Assessment for Autism spectrum disorders (SWEAA)—Validation of a self-report questionnaire targeting eating disturbances within the autism spectrum

The aim was to design and validate a questionnaire pertaining to eating problems in individuals with normal intelligence, within the autism spectrum. The questionnaire was based on literature search and clinical experience. The validation focused on psychometric properties of reliability and validity using a clinical group of individuals with autism spectrum disorders (ASD) (n = 57) and a matched, healthy comparison group (n = 31). The instrument showed high levels of reliability, convergent and discriminant validity and scaling properties. Logistic regression analyses discerned the single item Simultaneous capacity and the subscale Social situation at mealtime as the best predictors of ASD. In conclusion, the questionnaire is valid and reliable to detect disturbed eating behaviours in individuals with ASD and normal intelligence.     

Inter-rater reliability and stability of diagnoses of autism spectrum disorder in children identified through screening at a very young age

To examine the inter-rater reliability and stability of autism spectrum disorder (ASD) diagnoses made at a very early age in children identified through a screening procedure around 14 months of age. In a prospective design, preschoolers were recruited from a screening study for ASD. The inter-rater reliability of the diagnosis of ASD was measured through an independent assessment of a randomly selected subsample of 38 patients by two other psychiatrists. The diagnoses at 23 months and 42 months of 131 patients, based on the clinical assessment and the diagnostic classifications of standardised instruments, were compared to evaluate stability of the diagnosis of ASD. Inter-rater reliability on a diagnosis of ASD versus non-ASD at 23 months was 87% with a weighted κ of 0.74 (SE 0.11). The stability of the different diagnoses in the autism spectrum was 63% for autistic disorder, 54% for pervasive developmental disorder, not otherwise specified (PDD-NOS), and 91% for the whole category of ASD. Most diagnostic changes at 42 months were within the autism spectrum from autistic disorder to PDD-NOS and were mainly due to diminished symptom severity. Children who moved outside the ASD category at 42 months made significantly larger gains in cognitive and language skills than children with a stable ASD diagnosis. In conclusion, the inter-rater reliability and stability of the diagnoses of ASD established at 23 months in this population-based sample of very young children are good.     

Early language milestones predict later language,but not autism symptoms in higher functioning children with autism spectrum disorders

Language ability is a known predictor of outcome in children with autism but plays a more controversial role for higher functioning children with autism spectrum disorders (ASD). We studied the relationship between early language milestones and later structural language, adaptive functioning and autism symptoms in a sample of 76 children (mean age = 9.1 years) with an ASD, using two different language milestones: first phrase by 24 or 36 months. After controlling for age and nonverbal abilities, retrospectively reported early language milestones were predictive of later structural language abilities, measured by a sentence repetition task, and adaptive communication skills, but not autism symptoms or adaptive social skills. Acquisition of phrase speech by 24 months was sensitive to language and communication impairments in our ASD group, the majority (84%) of which had already acquired phrase speech by 36 months of age. Early available and easily collectable milestone data may be a useful marker of later language performance even in higher functioning, verbal children on the autism spectrum. When a detailed assessment of language is not possible, data on early milestones may be useful for identifying children at-risk in clinical settings and for language phenotyping in the laboratory.     

Efficiency of Lexical Access in Children with Autism Spectrum Disorders: Does Modality Matter?

The provision of visual support to individuals with an autism spectrum disorder (ASD) is widely recommended. We explored one mechanism underlying the use of visual supports: efficiency of language processing. Two groups of children, one with and one without an ASD, participated. The groups had comparable oral and written language skills and nonverbal cognitive abilities. In two semantic priming experiments, prime modality and prime–target relatedness were manipulated. Response time and accuracy of lexical decisions on the spoken word targets were measured. In the first uni-modal experiment, both groups demonstrated significant priming effects. In the second experiment which was cross-modal, no effect for relatedness or group was found. This result is considered in the light of the attentional capacity required for access to the lexicon via written stimuli within the developing semantic system. These preliminary findings are also considered with respect to the use of visual support for children with ASD.     

Working memory deficits in high-functioning adolescents with autism spectrum disorders: neuropsychological and neuroimaging correlates

Working memory is a temporary storage system under attentional control. It is believed to play a central role in online processing of complex cognitive information and may also play a role in social cognition and interpersonal interactions. Adolescents with a disorder on the autism spectrum display problems in precisely these domains. Social impairments, communication difficulties, and repetitive interests and activities are core domains of autism spectrum disorders (ASD), and executive function problems are often seen throughout the spectrum. As the main cognitive theories of ASD, including the theory of mind deficit hypotheses, weak central coherence account, and the executive dysfunction theory, still fail to explain the broad spectrum of symptoms, a new perspective on the etiology of ASD is needed. Deficits in working memory are central to many theories of psychopathology, and are generally linked to frontal-lobe dysfunction. This article will review neuropsychological and (functional) brain imaging studies on working memory in adolescents with ASD. Although still disputed, it is concluded that within the working memory system specific problems of spatial working memory are often seen in adolescents with ASD. These problems increase when information is more complex and greater demands on working memory are made. Neuroimaging studies indicate a more global working memory processing or connectivity deficiency, rather than a focused deficit in the prefrontal cortex. More research is needed to relate these working memory difficulties and neuroimaging results in ASD to the behavioral difficulties as seen in individuals with a disorder on the autism spectrum.     

Language acquisition in autism spectrum disorders: A developmental review

This paper reviews the complex literature on language acquisition in the autism spectrum disorders (ASD). Because of the high degree of interest in ASD in the past decade, the field has been changing rapidly, with progress in both basic science and applied clinical areas. In addition, psycholinguistically-trained researchers have increasingly begun to test theories of language acquisition in studies of ASD, because it is characterized by meaningful differences in ability across a wide range of language, social, and cognitive domains. As such, ASD has served as a “natural laboratory” in which to explore a variety of theories of language acquisition. We provide an overview of the current state of knowledge of language acquisition in autism spectrum disorders, also noting gaps in our current knowledge. We also review implications of this work for theories of typical language acquisition, and discuss some promising future directions. While the pragmatic deficits that characterize autism spectrum disorders are widely acknowledged, both clinicians and researchers should consider the phonological and morphosyntactic differences that likely play an important role in language comprehension and production for affected children.