414 results on '"Fombonne, Eric"'
Search Results
2. 'Um' and 'Uh' Usage Patterns in Children with Autism: Associations with Measures of Structural and Pragmatic Language Ability
- Author
-
Lawley, Grace O., Bedrick, Steven, MacFarlane, Heather, Dolata, Jill K., Salem, Alexandra C., and Fombonne, Eric
- Abstract
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), aged 4 to 15. Although the groups did not differ in "uh" usage, the ASD group used fewer "ums" than the TD group. This held true after controlling for age, sex, and IQ. Within ASD, social affect and pragmatic language scores did not predict filler usage; however, structural language scores predicted "um" usage. Lower "um" rates among children with ASD may reflect problems with planning or production rather than pragmatic language.
- Published
- 2023
- Full Text
- View/download PDF
3. Consistency and reliability of automated language measures across expressive language samples in autism
- Author
-
MacFarlane, Heather, Salem, Alexandra C, Bedrick, Steven, Dolata, Jill K, Wiedrick, Jack, Lawley, Grace O, Finestack, Lizbeth H, Kover, Sara T, Thurman, Angela John, Abbeduto, Leonard, and Fombonne, Eric
- Subjects
Cognitive and Computational Psychology ,Psychology ,Clinical Research ,Brain Disorders ,Autism ,Behavioral and Social Science ,Intellectual and Developmental Disabilities (IDD) ,Mental Health ,Pediatric ,Mental health ,Child ,Young Adult ,Humans ,Male ,Adolescent ,Adult ,Female ,Autistic Disorder ,Autism Spectrum Disorder ,Reproducibility of Results ,Language ,Communication ,autism ,automated measures ,communication ,expressive language ,natural language processing ,Clinical Sciences ,Neurosciences ,Developmental & Child Psychology ,Applied and developmental psychology ,Clinical and health psychology - Abstract
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 64 highly-verbal children and young adults (age: 6-23 years, mean 12.8 years; 78.1% male) with ASD to examine the validity across language sampling context and test-retest reliability of six previously validated Automated Language Measures (ALMs), including Mean Length of Utterance in Morphemes, Number of Distinct Word Roots, C-units per minute, unintelligible proportion, um rate, and repetition proportion. Three expressive language samples were collected at baseline and again 4 weeks later. These samples comprised interview tasks from the Autism Diagnostic Observation Schedule (ADOS-2) Modules 3 and 4, a conversation task, and a narration task. The influence of language sampling context on each ALM was estimated using either generalized linear mixed-effects models or generalized linear models, adjusted for age, sex, and IQ. The 4 weeks test-retest reliability was evaluated using Lin's Concordance Correlation Coefficient (CCC). The three different sampling contexts were associated with significantly (P
- Published
- 2023
4. Mobile and Online Consumer Tools to Screen for Autism Do Not Promote Equity
- Author
-
Sanders, Benjamin W., Bedrick, Steven, Broder-Fingert, Sarabeth, Brown, Shannon A., Dolata, Jill K., Fombonne, Eric, Reeder, Julie A., Rivas Vazquez, Luis Andres, Fuchu, Plyce, Morales, Yesenia, and Zuckerman, Katharine E.
- Abstract
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 spectrum disorder. Included digital autism spectrum disorder screening tools (a) were on Internet or mobile app; (b) were in English; (c) had a parent user inputting data; (d) assigned likelihood category to child <9 years; and (e) screened for autism spectrum disorder. Ten search terms, developed using Google Search and parent panel recommendations, were used to search web and app tools in the United States, the United Kingdom, India, Australia, and Canada using Virtual Private Networks. Results were examined for attributes likely to benefit parents in marginalized communities, such as ease of searching, language versions, and reading level. The four terms most likely to identify any tools were "autism quiz," "autism screening tool," "does my child have autism," and "autism toddler." Three out of five searches contained autism spectrum disorder screening tools, as did one of 10 links or apps. Searches identified a total of 1475 websites and 919 apps, which yielded 23 unique tools. Most tools required continuous Internet access or offered only English, and many had high reading levels. In conclusion, screening tools are available, but they are not easily found. Barriers include inaccessibility to parents with limited literacy or limited English proficiency, and frequent encounters with games, advertisements, and user fees.
- Published
- 2023
- Full Text
- View/download PDF
5. 'Um' and 'Uh' Usage Patterns in Children with Autism: Associations with Measures of Structural and Pragmatic Language Ability
- Author
-
Lawley, Grace O., Bedrick, Steven, MacFarlane, Heather, Dolata, Jill K., Salem, Alexandra C., and Fombonne, Eric
- Subjects
Pervasive developmental disorders -- Diagnosis ,Interpersonal communication in children -- Evaluation ,Health - Abstract
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), aged 4 to 15. Although the groups did not differ in 'uh' usage, the ASD group used fewer 'ums' than the TD group. This held true after controlling for age, sex, and IQ. Within ASD, social affect and pragmatic language scores did not predict filler usage; however, structural language scores predicted 'um' usage. Lower 'um' rates among children with ASD may reflect problems with planning or production rather than pragmatic language., Author(s): Grace O. Lawley [sup.1] , Steven Bedrick [sup.2] , Heather MacFarlane [sup.3] , Jill K. Dolata [sup.4] , Alexandra C. Salem [sup.3] , Eric Fombonne [sup.3] [sup.4] Author Affiliations: [...]
- Published
- 2023
- Full Text
- View/download PDF
6. Consanguinity as a Risk Factor for Autism
- Author
-
Alshaban, Fouad A., Aldosari, Mohammad, Ghazal, Iman, Al-Shammari, Hawraa, ElHag, Saba, Thompson, I. Richard, Bruder, Jennifer, Shaath, Hibah, Al-Faraj, Fatema, Tolefat, Mohamed, Nasir, Assal, and Fombonne, Eric
- Published
- 2023
- Full Text
- View/download PDF
7. A framework for measuring the cost to families of caring for children’s health: the design, methodology, and study population of the r-Kids study
- Author
-
Bulkley, Joanna E., Varga, Alexandra M., Dickerson, John F., Crawford, Phil, Croen, Lisa A., Daida, Yihe G., Fombonne, Eric, Hatch, Brigit, Lee, April, Massolo, Maria, Vaughn, Katherine, and Lynch, Frances L.
- Published
- 2023
- Full Text
- View/download PDF
8. Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome
- Author
-
Hoffmann, Anne, Thurman, Angela John, Sterling, Audra, Kover, Sara T, Finestack, Lizbeth, Berry-Kravis, Elizabeth, Edgin, Jamie O, Drayton, Andrea, Fombonne, Eric, and Abbeduto, Leonard
- Subjects
Cognitive and Computational Psychology ,Psychology ,Brain Disorders ,Intellectual and Developmental Disabilities (IDD) ,Down Syndrome ,Pediatric ,Autism ,Mental Health ,Fragile X Syndrome ,Clinical Research ,Rare Diseases ,Behavioral and Social Science ,Aetiology ,2.1 Biological and endogenous factors ,Mental health ,fragile X syndrome ,autism ,down syndrome ,expressive language sampling ,pragmatic language ,repetitive language ,Neurosciences ,Cognitive Sciences ,Applied and developmental psychology ,Biological psychology - Abstract
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-established ELS protocol can assess three types of linguistic self-repetition in three neurodevelopmental disabilities: fragile X syndrome (FXS), autism spectrum disorder (ASD), and Down syndrome (DS). We examined its ability to differentiate between these disorders, the relationships between repetitive language and other participant characteristics, and initial construct validity. We found that the groups with FXS and ASD differed significantly on each of the three repetitive language measure, and that the group with DS differed from either ASD or FXS on two. Cognitive ability was significantly related to phrase repetition in the group with ASD. When the groups were combined, there was evidence of convergent and divergent validity. This study extends previous research on ELS and supports its use as a means to characterize pragmatic language. It also provides information about the relationships between repetitive language and other phenotypic characteristics.
- Published
- 2022
9. Epidemiological Surveys of ASD: Current Findings and New Directions
- Author
-
Fombonne, Eric, El Idrissi, Abdeslem, editor, and McCloskey, Dan, editor
- Published
- 2023
- Full Text
- View/download PDF
10. Validation of Autism Diagnosis and Clinical Data in the SPARK Cohort
- Author
-
Fombonne, Eric, Coppola, Leigh, Mastel, Sarah, and O'Roak, Brian J.
- Abstract
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 validity of self- and caregiver-reported autism diagnoses. Electronic medical records (EMR) of 254 SPARK participants (77.6% male, age 10.7 years) were abstracted. Using two different methods, confirmation of ASD diagnosis in EMRs was obtained in 98.8% of cases. Core clinical features recorded in EMRs were typical of autism samples and showed very good agreement with SPARK cohort data, providing further evidence of the validity of clinical information in the SPARK database.
- Published
- 2022
- Full Text
- View/download PDF
11. Association between relative age at school and persistence of ADHD in prospective studies: an individual participant data meta-analysis
- Author
-
Gosling, Corentin J, Caparos, Serge, Pinabiaux, Charlotte, Schwarzer, Guido, Rücker, Gerta, Agha, Sharifah S, Alrouh, Hekmat, Ambler, Antony, Anderson, Peter, Andiarena, Ainara, Arnold, L Eugene, Arseneault, Louise, Asherson, Philip, Babinski, Leslie, Barbati, Vittoria, Barkley, Russel, Barros, Aluisio J D, Barros, Fernando, Bates, John E, Bell, Laura J, Berenguer, Carmen, van Bergen, Elsje, Biederman, Joseph, Birmaher, Boris, B⊘e, Tormod, Boomsma, Dorret I, Brandt, Valerie C, Bressan, Rodrigo A, Brocki, Karin, Broughton, Thomas R, Bufferd, Sara J, Bussing, Regina, Cao, Meng, Cartigny, Ariane, Casas, Ana Miranda, Caspi, Avshalom, Castellanos, F Xavier, Caye, Arthur, Cederkvist, Luise, Collishaw, Stephan, Copeland, William E, Cote, Sylvana M, Coventry, William L, Debes, Nanette M.M. Mol, Denyer, Hayley, Dodge, Kenneth A, Dogru, Hicran, Efron, Daryl, Eller, Jami, Abd Elmaksoud, Marwa, Ercan, Eyup Sabri, Faraone, Stephen V, Fenesy, Michelle, Fernández, Mariana F, Fernández-Somoano, Ana, Findling, Robert, Fombonne, Eric, Fossum, Ingrid N, Freire, Carmen, Friedman, Naomi P, Fristad, Mary A, Galera, Cedric, Garcia-Argibay, Miguel, Garvan, Cynthia S, González-Safont, Llúcia, Groenman, Annabeth P, Guxens, Mònica, Halperin, Jeffrey M, Hamadeh, Randah R, Hartman, Catharina A, Hill, Shirley Y, Hinshaw, Stephen P, Hipwell, Alison, Hokkanen, Laura, Holz, Nathalie, Íñiguez, Carmen, Jahrami, Haitham A, Jansen, Pauline W, Jónsdóttir, Lilja K, Julvez, Jordi, Kaiser, Anna, Keenan, Kate, Klein, Daniel N, Klein, Rachel G, Kuntsi, Jonna, Langfus, Joshua, Langley, Kate, Lansford, Jennifer E, Larsen, Sally A, Larsson, Henrik, Law, Evelyn, Lee, Steve S, Lertxundi, Nerea, Li, Xiaobo, Li, Yueling, Lichtenstein, Paul, Liu, Jianghong, Lundervold, Astri J, Lundström, Sebastian, Marks, David J, Martin, Joanna, Masi, Gabriele, Matijasevich, Alicia, Melchior, Maria, Moffitt, Terrie E, Monninger, Maximilian, Morrison, Claire L, Mulraney, Melissa, Muratori, Pietro, Nguyen, Phuc T, Nicholson, Jan M, Øie, Merete Glenne, O'Neill, Sarah, O'Connor, Cliodhna, Orri, Massimiliano, Pan, Pedro M, Pascoe, Leona, Pettit, Gregory S, Price, Jolie, Rebagliato, Marisa, Riaño-Galán, Isolina, Rohde, Luis A, Roisman, Glenn I, Rosa, Maria, Rosenbaum, Jerrold F, Salum, Giovanni A, Sammallahti, Sara, Santos, Ina S, Schiavone, Nella S, Schmid, Lorrie, Sciberras, Emma, Shaw, Philip, Silk, Tim J, Simpson, Jeffry A, Skogli, Erik W, Stepp, Stephanie, Strandberg-Larsen, Katrine, Sudre, Gustavo, Sunyer, Jordi, Tandon, Mini, Thapar, Anita, Thomson, Phoebe, Thorell, Lisa B, Tinchant, Hannah, Torrent, Maties, Tovo-Rodrigues, Luciana, Tripp, Gail, Ukoumunne, Obioha, Van Goozen, Stephanie HM, Vos, Melissa, Wallez, Solène, Wang, Yufeng, Westermaier, Franz G, Whalen, Diana J, Yoncheva, Yuliya, Youngstrom, Eric A, Sayal, Kapil, Solmi, Marco, Delorme, Richard, and Cortese, Samuele
- Published
- 2023
- Full Text
- View/download PDF
12. Clinical Profiles of Black and White Children Referred for Autism Diagnosis
- Author
-
Fombonne, Eric and Zuckerman, Katharine E.
- Abstract
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 overall levels of autistic symptoms. Black children had significantly but slightly lower scores on cognitive tests and on the Vineland communication domain than White children. Groups were comparable on internalizing and externalizing co-occurring problems. Given the largely similar clinical profiles, clinical differences in initial presentation may not be a primary reason for Black/White disparities in diagnostic and services use. Limitations of a cross-sectional referred sample are acknowledged.
- Published
- 2022
- Full Text
- View/download PDF
13. Incidence, prevalence, and global burden of autism spectrum disorder from 1990 to 2019 across 204 countries
- Author
-
Solmi, Marco, Song, Minjin, Yon, Dong Keon, Lee, Seung Won, Fombonne, Eric, Kim, Min Seo, Park, Seoyeon, Lee, Min Ho, Hwang, Jimin, Keller, Roberto, Koyanagi, Ai, Jacob, Louis, Dragioti, Elena, Smith, Lee, Correll, Christoph U., Fusar-Poli, Paolo, Croatto, Giovanni, Carvalho, Andre F., Oh, Jae Won, Lee, San, Gosling, Corentin J., Cheon, Keun-Ah, Mavridis, Dimitris, Chu, Che-Sheng, Liang, Chih-Sung, Radua, Joaquim, Boyer, Laurent, Fond, Guillaume, Shin, Jae Il, and Cortese, Samuele
- Published
- 2022
- Full Text
- View/download PDF
14. Epidemiological Surveys of ASD: Advances and Remaining Challenges
- Author
-
Fombonne, Eric, MacFarlane, Heather, and Salem, Alexandra C.
- Abstract
Recent worldwide epidemiological surveys of autism conducted in 37 countries are reviewed; the median prevalence of autism is 0.97% 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 reliance on parental reports only, case ascertainment through mainstream school surveys, innovative approaches to screen school samples more efficiently, and consideration of age in interpreting surveys. Directions for the future of autism epidemiology are discussed, including the need to systematically examine cross-cultural variation in phenotypic expression and developing surveillance programs.
- Published
- 2021
- Full Text
- View/download PDF
15. Psychometric Properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch Analysis
- Author
-
Yan, Weili, Siegert, Richard J., Zhou, Hao, Zou, Xiaobing, Wu, Lijie, Luo, Xuerong, Li, Tingyu, Huang, Yi, Guan, Hongyan, Chen, Xiang, Mao, Meng, Xia, Kun, Zhang, Lan, Li, Erzhen, Li, Chunpei, Zhang, Xudong, Zhou, Yuanfeng, Shih, Andy, Fombonne, Eric, Zheng, Yi, Han, Jisheng, Sun, Zhongsheng, Jiang, Yong-hui, and Wang, Yi
- Abstract
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 Modified Chinese Autism Spectrum Rating Scale which comprised 1593 non-cases and 420 children diagnosed with autism spectrum disorder. We used super items based on groups of locally dependent items and item deletion when necessary to achieve good fit to the model for each of the three subscales identified by Zhou et al. and for the full 59-item Modified Chinese Autism Spectrum Rating Scale. The resulting conversion tables enable the use of genuine unidimensional, interval level scores for the total score and three subscales. Reliability was high with Person Separation Index values ranging from 0.83 to 0.89 for the three subscales and 0.79 for the total scale. In addition, we were able to identify a full-scale version of the Autism Spectrum Rating Scale and its three subscales that are all free of differential item functioning in relation to the five person factors recorded namely age, sex, caseness, relative and city. In future studies, the Teacher version of the Modified Chinese Autism Spectrum Rating Scale needs examination with Rasch analysis.
- Published
- 2021
- Full Text
- View/download PDF
16. Beliefs in vaccine as causes of autism among SPARK cohort caregivers.
- Author
-
Fombonne, Eric, Goin-Kochel, Robin, and ORoak, Brian
- Subjects
Autism ,Autism spectrum disorder ,Disorder ,Ethnicity ,Immunizations ,Intellectual disability ,Language ,Language delay ,Psychiatric disorder ,Regression ,Seizure ,Sex ,Social factors ,Vaccines ,Adolescent ,Autism Spectrum Disorder ,Autistic Disorder ,Caregivers ,Child ,Child ,Preschool ,Ethnicity ,Female ,Health Knowledge ,Attitudes ,Practice ,Humans ,Male ,Minority Groups ,Vaccination ,Vaccines - Abstract
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 immunization schedule. OBJECTIVES: To compare caregivers of children with ASD who agree or disagree that vaccines play an etiological role in autism for 1) socio-demographics characteristics and 2) developmental and clinical profiles of their children. METHODS: Data from 16,525 participants with ASD under age 18 were obtained from SPARK, a national research cohort started in 2016. Caregivers completed questionnaires at registration that included questions on beliefs about the etiologic role of childhood immunizations and other factors in ASD. Data were available about family socio-demographic characteristics, first symptoms of autism, developmental regression, co-occurring psychiatric disorders, seizures, and current levels of functioning. RESULTS: Participants with ASD were 80.4% male with a mean age of 8.1 years (SD = 4.1). Overall, 16.5% of caregivers endorsed immunizations as perceived causes of autism. Compared to caregivers who disagreed with vaccines as a cause for ASD, those who believed in vaccine causation came disproportionately from ethnic minority, less educated, and less wealthy backgrounds. More often their children had experienced developmental regression involving language and other skills, were diagnosed earlier, had lost skills during the second year of life, and had worse language, adaptive, and cognitive outcomes. CONCLUSION: One in six caregivers who participate in a national research cohort believe that child immunizations could be a cause of autism in their child. Parent social background (non-White, less educated) and child developmental features (regression in second year, poorer language skills, and worse adaptive outcomes) index caregivers who are more likely to harbor these beliefs and could benefit from targeted educational activities.
- Published
- 2020
17. Epidemiological Surveys of ASD: Current Findings and New Directions
- Author
-
Fombonne, Eric, MacFarlane, Heather, Salem, Alexandra C., Zuckerman, Katharine E., Matson, Johnny L., Series Editor, and Sturmey, Peter, editor
- Published
- 2022
- Full Text
- View/download PDF
18. Validation of Autism Diagnosis and Clinical Data in the SPARK Cohort
- Author
-
Fombonne, Eric, Coppola, Leigh, Mastel, Sarah, and O'Roak, Brian J.
- Subjects
Pervasive developmental disorders -- Diagnosis ,Medical records -- Analysis ,Health - Abstract
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 validity of self- and caregiver-reported autism diagnoses. Electronic medical records (EMR) of 254 SPARK participants (77.6% male, age 10.7 years) were abstracted. Using two different methods, confirmation of ASD diagnosis in EMRs was obtained in 98.8% of cases. Core clinical features recorded in EMRs were typical of autism samples and showed very good agreement with SPARK cohort data, providing further evidence of the validity of clinical information in the SPARK database., Author(s): Eric Fombonne [sup.1] [sup.2] , Leigh Coppola [sup.1] , Sarah Mastel [sup.1] , Brian J. O'Roak [sup.3] Author Affiliations: (1) grid.5288.7, 0000 0000 9758 5690, Department of Psychiatry, Oregon [...]
- Published
- 2022
- Full Text
- View/download PDF
19. Improving Autism and Developmental Screening and Referral in US Primary Care Practices Serving Latinos
- Author
-
Zuckerman, Katharine E., Chavez, Alison E., Wilson, Laura, Unger, Katie, Reuland, Colleen, Ramsey, Katrina, King, Margaret, Scholz, Julie, and Fombonne, Eric
- Abstract
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 developmental risk in primary care clinics serving Latinos. This quasi-experimental study enrolled six Oregon primary care clinics. Clinic staff attended one initial and three follow-up trainings. Trainings addressed screening, billing, referral, and follow-up issues specific to Latinos. Clinic leaders met with a quality improvement facilitator to review performance. Medical record review measured screening and referral at 18- and 24-month well-child visits at baseline and 3, 6, 9, and 12 months. State Early Intervention database queries assessed Early Intervention eligibility. Overall, 2224 well-child visits were assessed (39% Latino). Clinics improved rates of autism spectrum disorder screening from 70% to 94% and general developmental screening from 62% to 95%. Adherence to screening guidelines increased from 46% to 91%. Proportion of children referred to Early Intervention was unchanged, but total referrals increased and age range of referred children broadened. Time to Early Intervention evaluation was slightly shorter among screening-age children. REAL-START may improve screening and referral for autism spectrum disorder and developmental delay in Latino communities.
- Published
- 2021
- Full Text
- View/download PDF
20. Clinical Profiles of Black and White Children Referred for Autism Diagnosis
- Author
-
Fombonne, Eric and Zuckerman, Katharine E.
- Subjects
Pervasive developmental disorders -- Diagnosis -- Demographic aspects ,Health care disparities -- Demographic aspects ,Health - Abstract
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 overall levels of autistic symptoms. Black children had significantly but slightly lower scores on cognitive tests and on the Vineland communication domain than White children. Groups were comparable on internalizing and externalizing co-occurring problems. Given the largely similar clinical profiles, clinical differences in initial presentation may not be a primary reason for Black/White disparities in diagnostic and services use. Limitations of a cross-sectional referred sample are acknowledged., Author(s): Eric Fombonne [sup.1] [sup.2] , Katharine E. Zuckerman [sup.2] [sup.3] Author Affiliations: (1) grid.5288.7, 0000 0000 9758 5690, Department of Psychiatry, Oregon Health & Science University, , Mail code: [...]
- Published
- 2022
- Full Text
- View/download PDF
21. Pragmatic language markers of autism diagnosis and severity
- Author
-
Dolata, Jill K., Suarez, Shannon, Calamé, Beth, and Fombonne, Eric
- Published
- 2022
- Full Text
- View/download PDF
22. Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort
- Author
-
Fombonne, Eric, Green Snyder, LeeAnne, Daniels, Amy, Feliciano, Pamela, and Chung, Wendy
- Abstract
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 (39.4%) and eating problems (29.4%), motor delays (22.8%) and history of seizure (15.5%) were the most frequently reported clinical features. Over two thirds (67.2%) had been diagnosed with at least one psychiatric disorder (anxiety disorders: 41.1%; ADHD: 38.7%). Compared to verbally fluent participants, those with language impairments had lower frequencies of almost all psychiatric disorders. Female sex and older age were associated with higher medical and psychiatric morbidity. [This article was written with the SPARK Consortium.]
- Published
- 2020
- Full Text
- View/download PDF
23. Prevalence of obsessive–compulsive disorder in the British nationwide survey of child mental health
- Author
-
Heyman, Isobel, primary, Fombonne, Eric, additional, Simmons, Helen, additional, Ford, Tamsin, additional, Meltzer, Howard, additional, and Goodman, Robert, additional
- Published
- 2022
- Full Text
- View/download PDF
24. Provider perspectives on equity in use of mobile health autism screening tools.
- Author
-
Zuckerman, Katharine E, Rivas Vazquez, Luis Andres, Morales Santos, Yesenia, Fuchu, Plyce, Broder-Fingert, Sarabeth, Dolata, Jill K, Bedrick, Steven, Fernandez, Jasmine, Fombonne, Eric, and Sanders, Benjamin W
- Subjects
FAMILIES & psychology ,DIAGNOSIS of autism ,MEDICAL care use ,HEALTH services accessibility ,PATIENTS' families ,HEALTH information services ,MOBILE apps ,RESEARCH funding ,QUALITATIVE research ,MEDICAL personnel ,LABOR productivity ,INTERVIEWING ,PRIMARY health care ,PRIVACY ,CULTURE ,DIGITAL divide ,ANXIETY ,EMOTIONS ,TELEMEDICINE ,EARLY intervention (Education) ,THEMATIC analysis ,BUSINESS ,SOUND recordings ,ATTITUDES of medical personnel ,RESEARCH methodology ,ASPERGER'S syndrome ,MEDICAL screening ,SPECIAL education ,PHENOMENOLOGY ,SOCIAL support ,LITERACY ,HEALTH equity ,MEDICAL practice ,MEDICAL ethics ,MEDICINE information services ,COMMUNICATION barriers ,EDUCATIONAL attainment ,PSYCHOSOCIAL factors - Abstract
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 interviews with 18 primary care and Early Intervention/Early Childhood Special Education providers in six US states. Providers were given hypothetical scenarios in which a family presents to care with results from one of 9 mHealth autism screening tools. Providers discussed their clinical approach and assessed the tool's fit with their patient/client population. Each transcript was audio-recorded, transcribed, and coded; a phenomenological approach was used to develop key themes. 4 themes and 18 subthemes emerged. These included Clinical and business factors (e.g. scope of practice concerns and clinical efficiency), Validity and trustworthiness (e.g. familiarity, data privacy/security), Family interaction quality (e.g. supporting family advocacy, provision of information, affecting family anxiety, and emotional support), and Accessibility (e.g. English proficiency/language issues, cultural inclusivity, and literacy/educational level). Providers suggested modifications to enhance equity, such as portraying diverse families, reducing the reading level of text, and making tools shorter to better fit clinical context. Families may find information about autism online, and health care and education providers may use online tools to screen for autism. However, we do not know if online autism screening tools are easily used by families and providers. We interviewed primary care and educational providers, asking them to review results from online tools that screen for autism. Providers had concerns about how usable and accessible these tools are for diverse families and suggested changes to make tools easier to use. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
25. Epidemiological surveys of ASD: advances and remaining challenges
- Author
-
Fombonne, Eric, MacFarlane, Heather, and Salem, Alexandra C.
- Subjects
Pervasive developmental disorders -- Surveys -- Diagnosis -- Forecasts and trends ,Market trend/market analysis ,Health - Abstract
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 reliance on parental reports only, case ascertainment through mainstream school surveys, innovative approaches to screen school samples more efficiently, and consideration of age in interpreting surveys. Directions for the future of autism epidemiology are discussed, including the need to systematically examine cross-cultural variation in phenotypic expression and developing surveillance programs., Author(s): Eric Fombonne [sup.1] , Heather MacFarlane [sup.1] , Alexandra C. Salem [sup.1] Author Affiliations: (1) grid.5288.7, 0000 0000 9758 5690, Department of Psychiatry, Oregon Health & Science University, , [...]
- Published
- 2021
- Full Text
- View/download PDF
26. No Sex Differences in Cognitive Ability in Young Children with Autism Spectrum Disorder
- Author
-
Duvall, Susanne W., Huang-Storms, Lark, Presmanes Hill, Alison, Myers, Julianne, and Fombonne, Eric
- Abstract
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 Early Learning (MSEL) through Autism Treatment Network (ATN) sites from 2007 to 2013 (N = 1587, 16.7% female). In this large clinically referred sample of young children with ASD in the United States, no significant differences were found between the sexes for the MSEL Early Learning Composite (ELC) standard score, domain T Scores or age equivalents. These findings persisted when examining different age ranges, cognitive levels and domain profiles.
- Published
- 2020
- Full Text
- View/download PDF
27. Validation of the Arabic Version of the Social Communication Questionnaire
- Author
-
Aldosari, Mohamm, Fombonne, Eric, Aldhalaan, Hesham, Ouda, Mohamm, Elhag, Saba, Alshammari, Hawraa, Ghazal, Iman, Alsaleh, Asma, Alqadoumi, Tala, Thomson, Richard, Al Khasawneh, Mohanad, Tolefat, Moham, and Alshaban, Fouad
- Abstract
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 (standard deviation = 2.6) years). The mean Social Communication Questionnaire total score was significantly higher in autism spectrum disorder children than in typically developing children (p < 0.0001). Scores on the three Social Communication Questionnaire subscales also differed significantly between the groups (p < 0.001). Of the 39 items, 37 were endorsed significantly more often in the autism spectrum disorder group. The total Social Communication Questionnaire score did not vary by age or gender. Internal consistency was excellent (alpha = 0.92). In the receiver operating characteristic analysis, the area under the curve for the total score showed excellent discrimination between autism spectrum disorder and typically developing children (area under the curve = 0.95; 95% confidence interval: 0.93-0.97). The areas under the curve for the scale subscores were 0.923 (95% confidence interval: 0.898-0.949) for the social interaction score, 0.872 (95% confidence interval: 0.838-0.905) for the communication score, and 0.856 (95% confidence interval: 0.819-0.893) for the repetitive behaviors score. The findings support the use of the Arabic Social Communication Questionnaire to successfully differentiate children with clinically diagnosed autism spectrum disorder using the established cutoff value for the English version.
- Published
- 2019
- Full Text
- View/download PDF
28. SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
- Author
-
Consortium, The SPARK, Feliciano, Pamela, Daniels, Amy M, Snyder, LeeAnne Green, Beaumont, Amy, Camba, Alexies, Esler, Amy, Gulsrud, Amanda G, Mason, Andrew, Gutierrez, Anibal, Nicholson, Amy, Paolicelli, Anna Marie, McKenzie, Alexander P, Rachubinski, Angela L, Stephens, Alexandra N, Simon, Andrea R, Stedman, Amy, Shocklee, Amanda D, Swanson, Amy, Finucane, Brenda, Hilscher, Brittani A, Hauf, Brenda, O’Roak, Brian J, McKenna, Brooke, Robertson, Beverly E, Rodriguez, Barbara, Vernoia, Brianna M, Van Metre, Bonnie, Bradley, Catherine, Cohen, Cheryl, Erickson, Craig A, Harkins, Christina, Hayes, Caitlin, Lord, Catherine, Martin, Christa Lese, Ortiz, Crissy, Ochoa-Lubinoff, Cesar, Peura, Christine, Rice, Catherine E, Rosenberg, Cordelia R, Smith, Christopher J, Thomas, Carrie, Taylor, Cora M, White, Loran Casey, Walston, Corrie H, Amaral, David G, Coury, Daniel Lee, Sarver, Dustin E, Istephanous, Dalia, Li, Deana, Nugyen, Dzung Cong, Fox, Emily A, Butter, Eric M, Berry-Kravis, Elizabeth, Courchesne, Eric, Fombonne, Eric J, Hofammann, Eugenia, Lamarche, Elena, Wodka, Ericka L, Matthews, Emily T, O’Connor, Eirene, Palen, Emily, Miller, Fiona, Dichter, Gabriel S, Marzano, Gabriela, Stein, Gail, Hutter, Hanna, Kaplan, Hannah E, Li, Hai, Lechniak, Holly, Schneider, Hoa Lam, Zaydens, Hana, Arriaga, Ivette, Gerdts, Jennifer A, Cubells, Joseph F, Cordova, Jeanette M, Gunderson, Jaclyn, Lillard, Joseph, Manoharan, Julie, McCracken, James T, Michaelson, Jacob J, Neely, Jason, Orobio, Jessica, Pandey, Juhi, Piven, Joseph, Scherr, Jessica, Sutcliffe, James S, Tjernagel, Jennifer, Wallace, Jermel, Callahan, Kristen, Dent, Katherine, Schweers, Kathryn A, Hamer, Kira E, Law, J Kiely, Lowe, Kathryn, O’Brien, Kaela, Smith, Kaitlin, Pawlowski, Katherine G, Pierce, Karen L, and Roeder, Katherine
- Subjects
Autism ,Pediatric ,Intellectual and Developmental Disabilities (IDD) ,Brain Disorders ,Mental Health ,Mental health ,Autism Spectrum Disorder ,Biomedical Research ,Cohort Studies ,Gene-Environment Interaction ,Genetic Predisposition to Disease ,Humans ,Patient Selection ,United States ,SPARK Consortium. Electronic address: pfeliciano@simonsfoundation.org ,SPARK Consortium ,Neurosciences ,Psychology ,Cognitive Sciences ,Neurology & Neurosurgery - Abstract
The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism.org, a dynamic platform that is engaging thousands of individuals with autism spectrum disorder (ASD) and connecting them to researchers. By making all data accessible, SPARK seeks to increase our understanding of ASD and accelerate new supports and treatments for ASD.
- Published
- 2018
29. Epidemiological Surveys of ASD: Current Findings and New Directions
- Author
-
Fombonne, Eric, primary, MacFarlane, Heather, additional, Salem, Alexandra C., additional, and Zuckerman, Katharine E., additional
- Published
- 2022
- Full Text
- View/download PDF
30. Validation of the Arabic Version of the Two Sensory Processing Measure Questionnaires
- Author
-
Alkhalifah, Shahad M., AlArifi, Hana, AlHeizan, Muhammad, Aldhalaan, Hesham, and Fombonne, Eric
- Published
- 2020
- Full Text
- View/download PDF
31. Factor analysis of the children’s sleep habits questionnaire among preschool children with autism spectrum disorder
- Author
-
Zaidman-Zait, Anat, Zwaigenbaum, Lonnie, Duku, Eric, Bennett, Teresa, Szatmari, Peter, Mirenda, Pat, Smith, Isabel, Vaillancourt, Tracy, Volden, Joanne, Waddell, Charlotte, Kerns, Connor, Elsabbagh, Mayada, Georgiades, Stelios, Ungar, Wendy J., Fombonne, Eric, and Roberts, Wendy
- Published
- 2020
- Full Text
- View/download PDF
32. Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort
- Author
-
Fombonne, Eric, Green Snyder, LeeAnne, Daniels, Amy, Feliciano, Pamela, Chung, Wendy, Abbeduto, Leonard, and Aberbach, Gabriella
- Subjects
Comorbidity -- Statistics -- Risk factors ,Mental illness -- Statistics -- Risk factors ,Health - Abstract
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 (39.4%) and eating problems (29.4%), motor delays (22.8%) and history of seizure (15.5%) were the most frequently reported clinical features. Over two thirds (67.2%) had been diagnosed with at least one psychiatric disorder (anxiety disorders: 41.1%; ADHD: 38.7%). Compared to verbally fluent participants, those with language impairments had lower frequencies of almost all psychiatric disorders. Female sex and older age were associated with higher medical and psychiatric morbidity., Author(s): Eric Fombonne [sup.1] , LeeAnne Green Snyder [sup.2] , Amy Daniels [sup.2] , Pamela Feliciano [sup.2] , Wendy Chung [sup.2] [sup.3] , Leonard Abbeduto, Gabriella Aberbach, John Acampado, Andrea [...]
- Published
- 2020
- Full Text
- View/download PDF
33. Provider perspectives on equity in use of mobile health autism screening tools
- Author
-
Zuckerman, Katharine E, primary, Rivas Vazquez, Luis Andres, additional, Morales Santos, Yesenia, additional, Fuchu, Plyce, additional, Broder-Fingert, Sarabeth, additional, Dolata, Jill K, additional, Bedrick, Steven, additional, Fernandez, Jasmine, additional, Fombonne, Eric, additional, and Sanders, Benjamin W, additional
- Published
- 2023
- Full Text
- View/download PDF
34. Early Predictors of Trajectories of Tobacco Use Level from Adolescence to Young Adulthood : A 16-Year Follow-Up of the TEMPO Cohort Study (1999–2015)
- Author
-
Clergue-Duval, Virgile, Mary-Krause, Murielle, Bolze, Camille, Fombonne, Eric, and Melchior, Maria
- Published
- 2019
35. Evaluating atypical language in autism using automated language measures
- Author
-
Salem, Alexandra C., MacFarlane, Heather, Adams, Joel R., Lawley, Grace O., Dolata, Jill K., Bedrick, Steven, and Fombonne, Eric
- Published
- 2021
- Full Text
- View/download PDF
36. No Sex Differences in Cognitive Ability in Young Children with Autism Spectrum Disorder
- Author
-
Duvall, Susanne W., Huang-Storms, Lark, Presmanes Hill, Alison, Myers, Julianne, and Fombonne, Eric
- Subjects
Cognition -- Comparative analysis -- Demographic aspects -- Analysis ,Sex differences (Psychology) -- Evaluation -- Analysis -- Comparative analysis ,Autistic children -- Comparative analysis -- Analysis ,Health - Abstract
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 Early Learning (MSEL) through Autism Treatment Network (ATN) sites from 2007 to 2013 (N = 1587, 16.7% female). In this large clinically referred sample of young children with ASD in the United States, no significant differences were found between the sexes for the MSEL Early Learning Composite (ELC) standard score, domain T Scores or age equivalents. These findings persisted when examining different age ranges, cognitive levels and domain profiles., Author(s): Susanne W. Duvall [sup.1] [sup.2] , Lark Huang-Storms [sup.1] , Alison Presmanes Hill [sup.1] [sup.3] , Julianne Myers [sup.3] [sup.4] , Eric Fombonne [sup.1] [sup.2] Author Affiliations: (1) grid.5288.7, [...]
- Published
- 2020
- Full Text
- View/download PDF
37. Prevalence of Autism Spectrum Disorder in China: A Nationwide Multi-center Population-based Study Among Children Aged 6 to 12 Years
- Author
-
Zhou, Hao, Xu, Xiu, Yan, Weili, Zou, Xiaobing, Wu, Lijie, Luo, Xuerong, Li, Tingyu, Huang, Yi, Guan, Hongyan, Chen, Xiang, Mao, Meng, Xia, Kun, Zhang, Lan, Li, Erzhen, Ge, Xiaoling, Zhang, Lili, Li, Chunpei, Zhang, Xudong, Zhou, Yuanfeng, Ding, Ding, Shih, Andy, Fombonne, Eric, Zheng, Yi, Han, Jisheng, Sun, Zhongsheng, Jiang, Yong-hui, and Wang, Yi
- Published
- 2020
- Full Text
- View/download PDF
38. Childhood social isolation and psychotic experiences in young adulthood: a community based study
- Author
-
Bennett, Julia C., Surkan, Pamela J., Moulton, Lawrence H., Fombonne, Eric, and Melchior, Maria
- Published
- 2020
- Full Text
- View/download PDF
39. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
- Author
-
Sanders, Stephan J, He, Xin, Willsey, A Jeremy, Ercan-Sencicek, A Gulhan, Samocha, Kaitlin E, Cicek, A Ercument, Murtha, Michael T, Bal, Vanessa H, Bishop, Somer L, Dong, Shan, Goldberg, Arthur P, Jinlu, Cai, Keaney, John F, Klei, Lambertus, Mandell, Jeffrey D, Moreno-De-Luca, Daniel, Poultney, Christopher S, Robinson, Elise B, Smith, Louw, Solli-Nowlan, Tor, Su, Mack Y, Teran, Nicole A, Walker, Michael F, Werling, Donna M, Beaudet, Arthur L, Cantor, Rita M, Fombonne, Eric, Geschwind, Daniel H, Grice, Dorothy E, Lord, Catherine, Lowe, Jennifer K, Mane, Shrikant M, Martin, Donna M, Morrow, Eric M, Talkowski, Michael E, Sutcliffe, James S, Walsh, Christopher A, Yu, Timothy W, Consortium, Autism Sequencing, Ledbetter, David H, Martin, Christa Lese, Cook, Edwin H, Buxbaum, Joseph D, Daly, Mark J, Devlin, Bernie, Roeder, Kathryn, and State, Matthew W
- Subjects
Biological Psychology ,Biomedical and Clinical Sciences ,Neurosciences ,Psychology ,Pediatric ,Prevention ,Biotechnology ,Brain Disorders ,Genetics ,Mental Health ,Intellectual and Developmental Disabilities (IDD) ,Human Genome ,Autism ,2.1 Biological and endogenous factors ,Aetiology ,Mental health ,Autism Spectrum Disorder ,Female ,Genetic Loci ,Genetic Variation ,Humans ,Male ,Protein Interaction Maps ,Autism Sequencing Consortium ,Cognitive Sciences ,Neurology & Neurosurgery ,Biological psychology - Abstract
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and exome sequencing data from the SSC and the Autism Sequencing Consortium (ASC) shows that genes within small de novo deletions, but not within large dnCNVs, significantly overlap the high-effect risk genes identified by sequencing. Alternatively, large dnCNVs are found likely to contain multiple modest-effect risk genes. Overall, we find strong evidence that de novo mutations are associated with ASD apart from the risk for intellectual disability. Extending the transmission and de novo association test (TADA) to include small de novo deletions reveals 71 ASD risk loci, including 6 CNV regions (noted above) and 65 risk genes (FDR ≤ 0.1).
- Published
- 2015
40. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?
- Author
-
Chaste, Pauline, Klei, Lambertus, Sanders, Stephan J, Hus, Vanessa, Murtha, Michael T, Lowe, Jennifer K, Willsey, A Jeremy, Moreno-De-Luca, Daniel, Yu, Timothy W, Fombonne, Eric, Geschwind, Daniel, Grice, Dorothy E, Ledbetter, David H, Mane, Shrikant M, Martin, Donna M, Morrow, Eric M, Walsh, Christopher A, Sutcliffe, James S, Lese Martin, Christa, Beaudet, Arthur L, Lord, Catherine, State, Matthew W, Cook, Edwin H, and Devlin, Bernie
- Subjects
Humans ,Genetic Predisposition to Disease ,Family ,Autistic Disorder ,Phenotype ,Polymorphism ,Single Nucleotide ,Female ,Male ,Genetic Variation ,Genome-Wide Association Study ,Autism Spectrum Disorder ,Autism ,GWAS ,Genetics ,Heterogeneity ,Power ,Genetic Testing ,Pediatric ,Intellectual and Developmental Disabilities (IDD) ,Mental Health ,Human Genome ,Brain Disorders ,Biological Sciences ,Medical and Health Sciences ,Psychology and Cognitive Sciences ,Psychiatry - Abstract
BackgroundPhenotypic heterogeneity in autism has long been conjectured to be a major hindrance to the discovery of genetic risk factors, leading to numerous attempts to stratify children based on phenotype to increase power of discovery studies. This approach, however, is based on the hypothesis that phenotypic heterogeneity closely maps to genetic variation, which has not been tested. Our study examines the impact of subphenotyping of a well-characterized autism spectrum disorder (ASD) sample on genetic homogeneity and the ability to discover common genetic variants conferring liability to ASD.MethodsGenome-wide genotypic data of 2576 families from the Simons Simplex Collection were analyzed in the overall sample and phenotypic subgroups defined on the basis of diagnosis, IQ, and symptom profiles. We conducted a family-based association study, as well as estimating heritability and evaluating allele scores for each phenotypic subgroup.ResultsAssociation analyses revealed no genome-wide significant association signal. Subphenotyping did not increase power substantially. Moreover, allele scores built from the most associated single nucleotide polymorphisms, based on the odds ratio in the full sample, predicted case status in subsets of the sample equally well and heritability estimates were very similar for all subgroups.ConclusionsIn genome-wide association analysis of the Simons Simplex Collection sample, reducing phenotypic heterogeneity had at most a modest impact on genetic homogeneity. Our results are based on a relatively small sample, one with greater homogeneity than the entire population; if they apply more broadly, they imply that analysis of subphenotypes is not a productive path forward for discovering genetic risk variants in ASD.
- Published
- 2015
41. Structural and functional connectivity of the human brain in autism spectrum disorders and attention‐deficit/hyperactivity disorder: A rich club‐organization study
- Author
-
Ray, Siddharth, Miller, Meghan, Karalunas, Sarah, Robertson, Charles, Grayson, David S, Cary, Robert P, Hawkey, Elizabeth, Painter, Julia G, Kriz, Daniel, Fombonne, Eric, Nigg, Joel T, and Fair, Damien A
- Subjects
Biological Psychology ,Cognitive and Computational Psychology ,Psychology ,Brain Disorders ,Clinical Research ,Mental Health ,Intellectual and Developmental Disabilities (IDD) ,Behavioral and Social Science ,Attention Deficit Hyperactivity Disorder (ADHD) ,Pediatric ,Neurosciences ,Autism ,1.1 Normal biological development and functioning ,Underpinning research ,2.3 Psychological ,social and economic factors ,Aetiology ,Mental health ,Adolescent ,Attention Deficit Disorder with Hyperactivity ,Brain ,Child ,Child Development Disorders ,Pervasive ,Cohort Studies ,Connectome ,Humans ,Magnetic Resonance Imaging ,Neural Pathways ,Signal Processing ,Computer-Assisted ,attention-deficit ,hyperactivity disorder ,autism spectrum disorders ,high angular resolution diffusion imaging ,rs-fMRI ,connectivity ,rich-club organization ,DW-MRI ,diffusion tensor imaging ,attention-deficit/hyperactivity disorder ,Attention-deficit/hyperactivity disorder ,Autism spectrum disorders ,Connectivity ,Diffusion tensor imaging ,High angular resolution diffusion imaging ,Rich-club organization ,Rs-fMRI ,Cognitive Sciences ,Experimental Psychology ,Biological psychology ,Cognitive and computational psychology - Abstract
Attention-deficit/hyperactive disorder (ADHD) and autism spectrum disorders (ASD) are two of the most common and vexing neurodevelopmental disorders among children. Although the two disorders share many behavioral and neuropsychological characteristics, most MRI studies examine only one of the disorders at a time. Using graph theory combined with structural and functional connectivity, we examined the large-scale network organization among three groups of children: a group with ADHD (8-12 years, n = 20), a group with ASD (7-13 years, n = 16), and typically developing controls (TD) (8-12 years, n = 20). We apply the concept of the rich-club organization, whereby central, highly connected hub regions are also highly connected to themselves. We examine the brain into two different network domains: (1) inside a rich-club network phenomena and (2) outside a rich-club network phenomena. The ASD and ADHD groups had markedly different patterns of rich club and non rich-club connections in both functional and structural data. The ASD group exhibited higher connectivity in structural and functional networks but only inside the rich-club networks. These findings were replicated using the autism brain imaging data exchange dataset with ASD (n = 85) and TD (n = 101). The ADHD group exhibited a lower generalized fractional anisotropy and functional connectivity inside the rich-club networks, but a higher number of axonal fibers and correlation coefficient values outside the rich club. Despite some shared biological features and frequent comorbity, these data suggest ADHD and ASD exhibit distinct large-scale connectivity patterns in middle childhood.
- Published
- 2014
42. Beyond Sentences: Using the Expression, Reception, and Recall of Narratives Instrument to Assess Communication in School-Aged Children with Autism Spectrum Disorder
- Author
-
Volden, Joanne, Dodd, Erin, Engel, Kathleen, Smith, Isabel M., Szatmari, Peter, Fombonne, Eric, Zwaigenbaum, Lonnie, Mirenda, Pat, Bryson, Susan, Roberts, Wendy, Vaillancourt, Tracy, Waddell, Charlotte, Elsabbagh, Mayada, Bennett, Teresa, Georgiades, Stelios, and Duku, Eric
- Abstract
Purpose: Impairments in the social use of language are universal in autism spectrum disorder (ASD), but few standardized measures evaluate communication skills above the level of individual words or sentences. This study evaluated the Expression, Reception, and Recall of Narrative Instrument (ERRNI; Bishop, 2004) to determine its contribution to assessing language and communicative impairment beyond the sentence level in children with ASD. Method: A battery of assessments, including measures of cognition, language, pragmatics, severity of autism symptoms, and adaptive functioning, was administered to 74 8- to 9-year-old intellectually able children with ASD. Results: Average performance on the ERRNI was significantly poorer than on the Clinical Evaluation of Language Fundamentals-Fourth Edition (CELF-4). In addition, ERRNI scores reflecting the number and quality of relevant story components included in the participants' narratives were significantly positively related to scores on measures of nonverbal cognitive skill, language, and everyday adaptive communication, and significantly negatively correlated with the severity of affective autism symptoms. Conclusion: Results suggest that the ERRNI reveals discourse impairments that may not be identified by measures that focus on individual words and sentences. Overall, the ERRNI provides a useful measure of communicative skill beyond the sentence level in school-aged children with ASD. [The Pathways in AST study team assisted in the writing of this article.]
- Published
- 2017
- Full Text
- View/download PDF
43. Editorial: Is autism overdiagnosed?
- Author
-
Fombonne, Eric, primary
- Published
- 2023
- Full Text
- View/download PDF
44. Epidemiological Surveys of Autism Spectrum Disorders
- Author
-
Myers, Julianne, primary, Chavez, Alison, additional, Hill, Alison Presmanes, additional, Zuckerman, Katharine, additional, and Fombonne, Eric, additional
- Published
- 2019
- Full Text
- View/download PDF
45. Prevalence of Autism Spectrum Disorders in Guanajuato, Mexico: The Leon Survey
- Author
-
Fombonne, Eric, Marcin, Carlos, Manero, Ana Cecilia, Bruno, Ruth, Diaz, Christian, Villalobos, Michele, Ramsay, Katrina, and Nealy, Benjamin
- Abstract
There are no epidemiological data on autism for Mexico. This study was conducted to generate a first estimate of ASD prevalence in Mexico. We surveyed children age eight in Leon (Guanajuato). The sample was stratified in two strata: (1) children having special education and medical records (SEMR; N = 432) and (2) children attending regular schools (GSS; N = 11,684). GSS children were screened with the SRS and those with the highest scores were invited to a diagnostic evaluation. The final sample comprised 36 children (80.6% male) who had confirmed ASD. A third had intellectual disability, 25% were non-verbal, 69% had co-occurring behavioral problems. The prevalence overall was 0.87% (95% CI 0.62, 1.1%). This survey provides an estimate for ASD prevalence in Mexico that is consistent with recent studies.
- Published
- 2016
- Full Text
- View/download PDF
46. Epidemiology of Autism Spectrum Disorders
- Author
-
Presmanes Hill, Alison, Zuckerman, Katharine, Fombonne, Eric, and Robinson-Agramonte, Maria de los Angeles, editor
- Published
- 2015
- Full Text
- View/download PDF
47. A Statistical Approach for Quantifying Group Difference in Topic Distributions Using Clinical Discourse Samples
- Author
-
Lawley, Grace O., primary, Heeman, Peter A., additional, Dolata, Jill K., additional, Fombonne, Eric, additional, and Bedrick, Steven, additional
- Published
- 2023
- Full Text
- View/download PDF
48. Additional file 2 of A framework for measuring the cost to families of caring for children’s health: the design, methodology, and study population of the r-Kids study
- Author
-
Bulkley, Joanna E., Varga, Alexandra M., Dickerson, John F., Crawford, Phil, Croen, Lisa A., Daida, Yihe G., Fombonne, Eric, Hatch, Brigit, Lee, April, Massolo, Maria, Vaughn, Katherine, and Lynch, Frances L.
- Abstract
Additional file 2: SupplementalTable 1. Multivariable Regression Analysis Parameters Estimates (PE) andStandard Errors (SE) of Child and Survey Respondent Mental Health, PhysicalHealth, and Quality of Life.
- Published
- 2023
- Full Text
- View/download PDF
49. Additional file 1 of A framework for measuring the cost to families of caring for children’s health: the design, methodology, and study population of the r-Kids study
- Author
-
Bulkley, Joanna E., Varga, Alexandra M., Dickerson, John F., Crawford, Phil, Croen, Lisa A., Daida, Yihe G., Fombonne, Eric, Hatch, Brigit, Lee, April, Massolo, Maria, Vaughn, Katherine, and Lynch, Frances L.
- Abstract
Additional file 1.
- Published
- 2023
- Full Text
- View/download PDF
50. Do Reciprocal Associations Exist between Social and Language Pathways in Preschoolers with Autism Spectrum Disorders?
- Author
-
Bennett, Teresa A., Szatmari, Peter, Georgiades, Katholiki, Hanna, Steven, Janus, Magdelena, Georgiades, Stelios, Duku, Eric, Bryson, Susan, Fombonne, Eric, Smith, Isabel M., Mirenda, Pat, Volden, Joanne, Waddell, Charlotte, Roberts, Wendy, Vaillancourt, Tracy, Zwaigenbaum, Lonnie, Elsabbagh, Mayada, and Thompson, Ann
- Abstract
Background: Differences in how developmental pathways interact dynamically in children with autism spectrum disorder (ASD) likely contribute in important ways to phenotypic heterogeneity. This study aimed to model longitudinal reciprocal associations between social competence (SOC) and language (LANG) pathways in young children with ASD. Methods: Data were obtained from 365 participants aged 2-4 years who had recently been diagnosed with an ASD and who were followed over three time points: baseline (time of diagnosis), 6- and 12 months later. Using structural equation modeling, a cross-lagged reciprocal effects model was developed that incorporated auto-regressive (stability) paths for SOC (using the Socialization subscale of the Vineland Adaptive Behavior Scales-2) and LANG (using the Preschool Language Scale-4 Auditory Comprehension subscale). Cross-domain associations included within-time correlations and lagged associations. Results: SOC and LANG were highly stable over 12 months. Small reciprocal cross-lagged associations were found across most time points and within-time correlations decreased over time. There were no differences in strength of cross-lagged associations between SOC-LANG and LANG-SOC across time points. Few differences were found between subgroups of children with ASD with and without cognitive impairment. Conclusions: Longitudinal reciprocal cross-domain associations between social competence and language were small in this sample of young children with ASD. Instead, a pattern emerged to suggest that the two domains were strongly associated around time of diagnosis in preschoolers with ASD, and then appeared to become more independent over the ensuing 12 months.
- Published
- 2015
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.