Eric Fombonne

Oregon Health & Science University | OHSU · Department of Psychiatry

Présentation de Fombonne, E. (2023). Editorial: Is autism overdiagnosed?, Journal of Child Psychology and Psychiatry 64:5 (2023), pp 711–714 doi:10.1111/jcpp.13806. Les troubles du spectre de l’autisme (TSA) sont largement considérés comme relevant des troubles du neuro-développement [TND] d’étiologies encore inconnues et indubitablement multifact...

Purpose Diagnostic accuracy of autism spectrum disorder (ASD) is crucial to track and characterize ASD, as well as to guide appropriate interventions at the individual level. However, under-diagnosis, over-diagnosis, and misdiagnosis of ASD are still prevalent. Methods We describe 232 children (MAge = 10.71 years; 19% female) with community-based...

We reviewed 141 epidemiological surveys of autism conducted in 37 countries since 1966. Prevalence has significantly increased over time; in 31 recent surveys performed in high-income countries on school-aged samples, the median prevalence was 1.14%. Male/female ratio (median 4.1:1) was stable over time. Methodological progresses and remaining chal...

Mobile health (mHealth) screening tools for autism are gaining in prevalence, and have benefits such as video content and direct resources linkage. However, it is unclear whether such tools will ameliorate autism inequities or will help only those already advantaged in autism care. To investigate this issue, we conducted semi-structured qualitative...

Purpose: Genetic and environmental risk factors associated with Autism Spectrum Disorders (ASD) continue to be a focus of research worldwide. Consanguinity, the cultural practice of marrying within a family, is common in cultures and societies of the Middle East, North Africa and parts of Asia. Consanguinity has been investigated as a risk factor...

After attention was drawn in the late 1960s to the poor reproducibility of psychiatric diagnosis between clinicians, methods and procedures used to diagnose psychiatric disorders were greatly improved. Sources of variance contributing to the poor reliability of psychiatric diagnosis were identified that included: information variance (how clinician...

Background All families experience financial and time costs related to caring for their children’s health. Understanding the economic burden faced by families of children with chronic health conditions (CHC) is crucial for designing effective policies to support families. Methods In this prospective study we used electronic health records to ident...

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with substantial clinical heterogeneity, especially in language and communication ability. There is a need for validated language outcome measures that show sensitivity to true change for this population. We used Natural Language Processing to analyze expressive language transcripts of...

Topic distribution matrices created by topic models are typically used for document classification or as features in a separate machine learning algorithm. Existing methods for evaluating these topic distributions include metrics such as coherence and perplexity; however, there is a lack of statistically grounded evaluation tools. We present a stat...

Parents of children with autism spectrum disorder (ASD) and other chronic health conditions often face exceptional caregiving demands that can lead to challenges related to maintaining and succeeding in employment. Detailed information on the specific ways in which these health conditions impact parent employment could aid in designing equitable, e...

Limited access to screening and evaluation for autism spectrum disorder in children is a major barrier to improving outcomes for marginalized families. To identify and evaluate available digital autism spectrum disorder screening resources, we simulated web and mobile app searches by a parent concerned about their child’s likelihood of autism spect...

The SPARK cohort was established to facilitate recruitment in studies of large numbers of participants with autism spectrum disorder (ASD). Online registration requires participants to have received a lifetime professional diagnosis by health or school providers although diagnoses are not independently verified. This study was set to examine the va...

Autism spectrum disorder (ASD) substantially contributes to the burden of mental disorders. Improved awareness and changes in diagnostic criteria of ASD may have influenced the diagnostic rates of ASD. However, while data on trends in diagnostic rates in some individual countries have been published, updated estimates of diagnostic rate trends and...

Purpose Assessment of pragmatic language difficulties is limited with conventional tests but can be performed with informant reports. We evaluated the performance of a parent-completed language scale in differentiating autism from typical development (TD) and another neurodevelopmental disorder. Specifically, we aimed to gauge the respective values...

Pragmatic language difficulties, including unusual filler usage, are common among children with Autism Spectrum Disorder (ASD). This study investigated “um” and “uh” usage in children with ASD and typically developing (TD) controls. We analyzed transcribed Autism Diagnostic Observation Schedule (ADOS) sessions for 182 children (117 ASD, 65 TD), age...

Expressive language sampling (ELS) is a frequently used tool for language analysis, as it can be used across widely ranging cognitive and language abilities. ELS can also evaluate pragmatic language, including excessive self-repetition, which is challenging to assess with traditional standardized assessments. This study explored how a well-establis...

Variability in expressive and receptive language, difficulty with pragmatic language, and prosodic difficulties are all features of autism spectrum disorder (ASD). Quantifying language and voice characteristics is an important step for measuring outcomes for autistic people, yet clinical measurement is cumbersome and costly. Using natural language...

Black children with autism are diagnosed at an older age. Whether or not late detection is paralleled by differing clinical presentation is not known. We evaluated symptom profiles of 245 Black and 488 sex- and age-matched White non-Hispanic participants (82.8% male; mean age: 4.2 years) referred for ASD diagnosis. Both groups showed similar overal...

Prevalence estimates of autism are essential for informing public policy, raising awareness, and developing research priorities. Using a systematic review, we synthesized estimates of the prevalence of autism worldwide. We examined factors accounting for variability in estimates and critically reviewed evidence relevant for hypotheses about biologi...

Recent worldwide epidemiological surveys of autism conducted in 37 countries are reviewed; the median prevalence of autism is .97% in 26 high-income countries. Methodological advances and remaining challenges in designing and executing surveys are discussed, including the effects on prevalence of variable case definitions and nosography, of relianc...

Objective: Emotional and behavioral problems (EBPs) may co-occur with autism spectrum disorder (ASD) and impair children's functioning beyond autism symptomatology. We compared the prevalence of EBPs in youths with or without ASD and evaluated their unique contribution to impairment in ASD. Methods: We surveyed 1267 children (79.4% boys, mean ag...

Objective: To test the association of parents' concerns with early intervention (EI) developmental services outcomes including evaluation, eligibility, and enrollment in services. Method: We collected survey data on parents' concerns and EI service use data from a sample of 428 children referred to EI from 2016 to 2018 in 6 Oregon primary care c...

The presence of prosodic anomalies in autistic is recognized by experienced clinicians but their quantitative analysis is a cumbersome task beyond the scope of typical pen and pencil assessment. This paper proposes an automatic approach allowing to tease apart various aspects of prosodic abnormalities and to translate them into fine-grained, automa...

Conversational impairments are well known among people with autism spectrum disorder (ASD), but their measurement requires time-consuming manual annotation of language samples. Natural language processing (NLP) has shown promise in identifying semantic difficulties when compared to clinician-annotated reference transcripts. Our goal was to develop...

Measurement of language atypicalities in Autism Spectrum Disorder (ASD) is cumbersome and costly. Better language outcome measures are needed. Using language transcripts, we generated Automated Language Measures (ALMs) and tested their validity. 169 participants (96 ASD, 28 TD, 45 ADHD) ages 7 to 17 were evaluated with the Autism Diagnostic Observa...

Objectives: This study aimed at evaluating advanced parental age as a risk factor for autism spectrum disorder (ASD) in an Omani cohort. Methods: This case-control study compared 278 ASD cases with 722 gender-matched controls, retrieved from the electronic records of the Developmental Paediatric Clinic, Sultan Qaboos University Hospital, Muscat,...

The recent adaptation of a Chinese parent version of the Autism Spectrum Rating Scale showed the Modified Chinese Autism Spectrum Rating Scale to be reliable and valid for use in China. The aim of this study was to test the Modified Chinese Autism Spectrum Rating Scale for fit to the Rasch model. We analysed data from a previous study of the Modifi...

This study examined lifetime medical and psychiatric morbidity reported by caregivers of 2917 autistic adults participating in the US research cohort SPARK. Participants were 78.4% male, 47.3% had intellectual disability, and 32.1% had persistent language impairments. Childhood language disorders (59.7%), speech/articulation problems (32.8%), sleep...

Background There are few standardized and validated tools to evaluate sensory processing difficulties in Arabic countries. The purpose of this study was to evaluate the psychometric properties of Arabic versions of the Home and Preschool- Home versions of the Sensory Processing Measure(SPM), an instrument widely used for clinical and research purpo...

Improving autism spectrum disorder screening and referral in primary care may reduce autism spectrum disorder disparities for Latino children. The REAL-START intervention aimed to increase primary care provider adherence to autism spectrum disorder and developmental screening guidelines, and to increase Early Intervention referral for children at d...

The aims of this article are to provide an up-to-date review of the methodological features and substantive results of published epidemiological surveys of the prevalence of pervasive developmental disorders (PDD). This article updates previous reviews (1, 2) with the inclusion of new studies made available since then. The specific questions addres...

The theme of camouflage recently gained unexpected momentum in autism research. Symposia and panel discussions are devoted to ‘ camouflage’ in autism conferences. Because of its association with intended deception, the term camouflage has poor fit with the autism world. However, psychopathologists have a long tradition of resorting to camouflage‐li...

Non-clinical psychotic experiences (PEs) occur at over twice the rate of psychotic disorders along a continuum in the general population and increase risk for progression to diagnoseable disorders. Social isolation is a risk factor for psychotic disorders, although it is unclear if childhood social isolation increases risk for experience of non-cli...

Vaccine hesitancy may be more common among parents of children with autism spectrum disorder (ASD). We examined factors associated with ASD-specific vaccine hesitancy among caregivers of children with ASD who participated in the SPARK study (Simons Foundation Powering Autism Research for Knowledge). 225 participants completed an online survey conta...

This study aimed to obtain the first national estimate of the prevalence of autism spectrum disorder (ASD) in Chinese children. We targeted the population of 6 to 12-year-old children for this prevalence study by multistage convenient cluster sampling. The Modified Chinese Autism Spectrum Rating Scale was used for the screening process. Of the targ...

Aim To evaluate if autism symptoms and diagnoses are more common in children with neurofibromatosis type 1 (NF1) than in typically developing children, to which levels, and to determine if co‐occurring attention‐deficit/hyperactivity disorder (ADHD) symptomatology accounts for this increase. Method We searched hospital electronic medical records (...

Inconsistent findings regarding sex differences in cognition have been found in people with autism spectrum disorder (ASD). This study evaluated sex differences in cognitive-developmental functioning in a large clinical sample of young children diagnosed with ASD. The sample included children 18–68 months of age who received the Mullen Scales of Ea...

Germline variation in PTEN results in variable clinical presentations, including benign and malignant neoplasia and neurodevelopmental disorders. Despite decades of research, it remains unclear how the PTEN genotype is related to clinical outcomes. In this study, we combined two recent deep mutational scanning (DMS) datasets probing the effects of...

Background: Those with autism spectrum disorder (ASD) and/or attention-deficit-hyperactivity disorder (ADHD) exhibit symptoms of hyperactivity and inattention, causing significant hardships for families and society. A potential mechanism involved in these conditions is atypical executive function (EF). Inconsistent findings highlight that EF featu...

Vaccines are everywhere hugely successful but are also under attack. The reason for the latter is the perception by some people that vaccines are unsafe. However that may be, vaccine safety, life any other scientific subject, must be constantly studied. It was from this point of view that a meeting was organized at the Wellcome Trust in London in M...

Background: Fear of autism has led to a decline in childhood-immunization uptake and to a resurgence of preventable infectious diseases. Identifying characteristics of parents who believe in a causal role of vaccines for autism spectrum disorder (ASD) in their child may help targeting educational activities and improve adherence to the immunizatio...

Background: Sleep problems are prevalent among young children with autism spectrum disorders (ASD). The Children's Sleep Habits Questionnaire (CSHQ) is commonly used for assessment, but there are outstanding questions regarding its optimal measurement model. Aims: To examine the factor structure of the CSHQ in preschool children with ASD, and re...

Aim to evaluate if autism symptoms and diagnoses are raised in children with neurofibromatosis type 1 (NF1), to which levels, and to determine if co-occurring symptomatology accounts for this elevation. Method We interrogated our hospital electronic medical records. We collected parental reports of autism symptomatology, adaptive behavior, and co-...

Germline variation in PTEN results in variable clinical presentations, including benign and malignant neoplasia and neurodevelopmental disorders. Despite decades of research, it remains unclear how PTEN genotype is related to clinical outcomes. In this study, we combined two recent deep mutational scanning (DMS) datasets probing the effects of sing...

Epidemiological surveys have increased in number and complexity. This paper focuses on a few selected issues that persist in the field of autism epidemiology today. Recent surveys have improved case ascertainment by including a regular school survey component, and they have consistently identified cases which were undiagnosed. However, the logistic...

Human and animal cross-sectional studies have shown that maternal levels of the inflammatory cytokine interleukin-6 (IL-6) may compromise brain phenotypes assessed at single time points. However, how maternal IL-6 associates with the trajectory of brain development remains unclear. We investigated whether maternal IL-6 levels during pregnancy relat...

In this editorial, the author reflects on changes that occurred in the quality of research on developmental psychopathology over the last 35 years. This is illustrated in the increased quality of nine longitudinal studies that are included in the current issue of JCPP. Using approaches that capitalize on the passage of time, ranging from 28 days to...

Background Few epidemiological data on autism spectrum disorders (ASD) exist for Arabic countries. We conducted the first survey of ASD in Qatar, a population with high consanguinity level. Methods This cross‐sectional survey was conducted from 2015 to 2018 in Qatar school‐age children (N = 176,960) from national and immigrant families. Children d...

This article provides a review of substantial findings and methodological issues in epidemiological surveys of autism. Studies published since 2 000 are reviewed and indicate huge heterogeneity of methods across surveys. Prevalence estimates vary widely, with a range of prevalence from 0.7 % to 1.5 % being consistent with recent, well-designed stud...

Autism and Pervasive Developmental Disorders - edited by Fred R. Volkmar January 2019

Cambridge Core - Psychiatry - Autism and Pervasive Developmental Disorders - edited by Fred R. Volkmar

Background Early diagnosis of autism spectrum disorder (ASD) is essential in most Canadian jurisdictions to access interventions that improve long-term child outcomes. Our main objective was to identify factors associated with timing of ASD diagnosis in five provinces across Canada. Methods Factors influencing age of diagnosis were assessed in the...

Objective: Considering the impact of rapid sociocultural, political, and economical changes on societies and families, population-based surveys of mental disorders in different communities are needed to describe the magnitude of mental health problems and their disabling effects at the individual, familial, and societal levels. Method: A population...

Validated screening and diagnostic tools for autism spectrum disorder for use in Arabic-speaking individuals are scarce. This study validated the Arabic version of the Social Communication Questionnaire. The total study sample included 206 children with autism spectrum disorder and 206 typically developing children (73.8% male; mean age: 8.5 (stand...

Purpose: Individual and family characteristics early on in life are associated with adolescent smoking; however, their role with regard to long-term tobacco smoking trajectories into young adulthood is not well-known, which is what we set out to study using data from a longitudinal community-based cohort. Methods: We used data from 2,025 youths in...

This article provides a review of substantial findings and methodological issues in epidemiological surveys of autism. Studies published since 2 000 are reviewed and indicate huge heterogeneity of methods across surveys. Prevalence estimates vary widely, with a range of prevalence from 0.7 % to 1.5 % being consistent with recent, well-designed stud...

Epidemiological surveys have increased in number and complexity. This paper focus-es on a few selected issues that persist in the field of autism epidemiology today. Recent surveys have improved case ascertainment by including a regular school survey component, and they have consistently identified cases which were undiagnosed. However, the logisti...

Objective: Considering the impact of rapid sociocultural, political, and economical changes on societies and families, population-based surveys of mental disorders in different communities are needed to describe the magnitude of mental health problems and their disabling effects at the individual, familial, and societal levels. Method: A populatio...

Objective The prevalence of diagnosed autism spectrum disorders (ASD) has risen steadily over time. There is therefore a need for the monitoring of treated ASD for timely policy making. The objective of this study is to report and compare over a 10-year period the prevalence and incidence rate of diagnosed ASD in four Canadian provinces. Methods Th...