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Wong CM, Mohd Zambri N, Fan HH, Lau LHS, Daniel LM, Koh HC. A Direct Comparison of Three Screening Methods for Autism Spectrum Disorder in a High-Likelihood Sibling Population. J Autism Dev Disord 2025; 55:1274-1285. [PMID: 38536636 DOI: 10.1007/s10803-024-06294-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 02/15/2024] [Indexed: 03/25/2025]
Abstract
Targeted screening of children at increased likelihood of autism is recommended. However, autism screening tools are usually validated for use mainly in low-likelihood populations. This study compared the accuracy of the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F), the ASDetect app, and the Social Attention and Communication Surveillance, Revised (SACS-R). Siblings of autistic children underwent autism screening at 12, 18 and 30 months old. At each visit, caregivers completed the M-CHAT-R/F and ASDetect while trained nurses tested the siblings using the SACS-R. At 36 to 48 months, the siblings underwent an Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) assessment. 189 siblings were screened, 141 completed the study, and 32 were confirmed to have autism. Although not validated for use at 12 months, the M-CHAT-R/F had the best sensitivity among the three tools for this age group, suggesting that early signs are already apparent to caregivers. The M-CHAT-R/F had overall better sensitivity (0.72-0.83) across all age groups, but with overall lower specificity (0.55-0.77). The SACS-R and ASDetect had better positive predictive values at 18 and 30 months (0.60-0.68), while the M-CHAT-R/F was 0.43-0.48. Negative predictive values were generally high across all three tools across all age groups (0.78-0.93). Targeted screening of children at high likelihood of autism yielded a detection rate of 22.7% and should therefore be implemented routinely to facilitate early detection and intervention. The performance of autism screening tools should be examined in higher-likelihood populations for targeted screening of these children.
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Affiliation(s)
- Chui Mae Wong
- Department of Child Development, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.
- Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
- Duke-NUS Medical School, Singapore, Singapore.
- Lee Kong Chian School of Medicine, Singapore, Singapore.
| | - Nurhafizah Mohd Zambri
- Department of Child Development, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore
| | - Hui Hua Fan
- Department of Child Development, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore
| | - Lily H S Lau
- Department of Child Development, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore
| | - L Mary Daniel
- Department of Child Development, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore
- Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
- Duke-NUS Medical School, Singapore, Singapore
- Lee Kong Chian School of Medicine, Singapore, Singapore
| | - Hwan Cui Koh
- Department of Child Development, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore
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Hadi AF, Arta RK, Kushima I, Egawa J, Watanabe Y, Ozaki N, Someya T. Association Analysis of Rare CNTN5 Variants With Autism Spectrum Disorder in a Japanese Population. Neuropsychopharmacol Rep 2025; 45:e12527. [PMID: 39887962 PMCID: PMC11781355 DOI: 10.1002/npr2.12527] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/19/2024] [Revised: 12/30/2024] [Accepted: 01/02/2025] [Indexed: 02/01/2025] Open
Abstract
BACKGROUND Contactin-5 (CNTN5), a neural adhesion molecule involved in synaptogenesis and synaptic maturation in the auditory pathway, has been associated with the pathophysiology of autism spectrum disorder (ASD), particularly hyperacusis. To investigate the role of rare CNTN5 variants in ASD susceptibility, we performed resequencing and association analysis in a Japanese population. METHODS We resequenced the CNTN5 coding regions in 302 patients with ASD and prioritized rare putatively damaging variants. The prioritized variants were then genotyped in 313 patients with ASD and 1065 controls. Subsequently, we conducted an association study of selected variants with ASD in 614 patients with ASD and 61 057 controls. Clinical data were reviewed for patients carrying prioritized variants. RESULTS Through resequencing, we prioritized three rare putatively damaging missense variants (W69G, I227L, and L1000S) in patients with ASD. Although we found a nominally significant association between the I227L variant and ASD, it did not remain significant after post hoc correction. Hyperacusis was found in three out of nine patients carrying prioritized variants. CONCLUSION This study does not provide evidence for the contribution of rare CNTN5 variants to the genetic etiology of ASD in the Japanese population.
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Affiliation(s)
- Abdul Fuad Hadi
- Department of Psychiatry, School of Medicine, and Graduate School of Medical and Dental SciencesNiigata UniversityNiigataJapan
| | - Reza K. Arta
- Department of Psychiatry, School of Medicine, and Graduate School of Medical and Dental SciencesNiigata UniversityNiigataJapan
| | - Itaru Kushima
- Department of PsychiatryNagoya University Graduate School of MedicineNagoyaAichiJapan
- Medical Genomics CenterNagoya University HospitalNagoyaAichiJapan
| | - Jun Egawa
- Department of Psychiatry, School of Medicine, and Graduate School of Medical and Dental SciencesNiigata UniversityNiigataJapan
| | - Yuichiro Watanabe
- Department of Psychiatry, School of Medicine, and Graduate School of Medical and Dental SciencesNiigata UniversityNiigataJapan
- Department of PsychiatryUonuma Kikan HospitalNiigataJapan
| | - Norio Ozaki
- Pathophysiology of Mental DisordersNagoya University Graduate School of MedicineNagoyaAichiJapan
| | - Toshiyuki Someya
- Department of Psychiatry, School of Medicine, and Graduate School of Medical and Dental SciencesNiigata UniversityNiigataJapan
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Takeda T, Osada H, Tsuji Y, Kurita H. Validation and determining an optimal cut-off score of the Infant Behavior Checklist for autism spectrum disorder. PCN REPORTS : PSYCHIATRY AND CLINICAL NEUROSCIENCES 2024; 3:e212. [PMID: 38904062 PMCID: PMC11187909 DOI: 10.1002/pcn5.212] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 10/23/2023] [Revised: 05/05/2024] [Accepted: 05/21/2024] [Indexed: 06/22/2024]
Abstract
Aim Given the escalating prevalence of autism spectrum disorder (ASD), the persistent paucity of child psychiatrists in Japan, and the need to prepare for unforeseen situations, such as the COVID-19 pandemic, it is essential to establish a reliable screening tool. This study aims to validate the Infant Behavior Checklist (IBC) developed by Japanese experts and determine its appropriate cut-off score. Methods A total of 354 clinic-referred children, along with their caregivers, participated in this research. Clinical records, including diagnoses established through the sub-structured diagnostic interviews, and the IBC assessments, were subjected to rigorous statistical analysis. Results Among the 24 items, six failed to reach significance to differentiate ASD from non-ASD cases. The Cronbach's alpha coefficient for the IBC was calculated at 0.77. The IBC total score for ASD cases was significantly higher than that of non-ASD cases. With the chosen cut-off score, the IBC demonstrated an area under the ROC curve of 0.803, along with sensitivity, specificity, positive predictive value, and negative predictive value of 8.03, 0.79, 0.69, 0.34, and 0.94, respectively. Conclusion The IBC exhibits satisfactory internal consistency and content and discriminant validity. The high sensitivity and other associated indices for the optimal cut-off score of the IBC affirm its validity as a screening instrument for ASD. Nevertheless, further investigations are warranted to ascertain the clinical utility of the IBC.
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Affiliation(s)
| | | | - Yui Tsuji
- Sapporo Gakuin UniversitySapporoJapan
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Horiuchi S, Nomura O, Curry L, Kushima M, Arnold L, Yamagata Z. 'Caregivers' awareness matters': Call for a child-centred approach to early detection of autism spectrum disorder through well-child visits in Japan. Child Care Health Dev 2023; 49:985-994. [PMID: 36807909 DOI: 10.1111/cch.13107] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/30/2022] [Revised: 02/08/2023] [Accepted: 02/13/2023] [Indexed: 02/22/2023]
Abstract
BACKGROUND Early detection of autism spectrum disorder (ASD) is essential to provide children with timely treatment and support. Evidence-based screening measures make it possible to identify children with suspected ASD at an early stage. Although Japan has a universal healthcare system that covers well-child visits, detection rates of developmental disorders, including ASD, at 18 months vary widely between municipalities (0.2%-48.0%). The reasons for this high level of variation are poorly understood. The present study aims to describe the barriers and facilitators of incorporating ASD identification during well-child visits in Japan. METHODS This is a qualitative study that conducts semi-structured in-depth interviews in two municipalities of Yamanashi Prefecture. We recruited all public health nurses (n = 17) and paediatricians (n = 11) involved in the well-child visit in each municipality and caregivers of children who also participated in the visits during the study period (n = 21). RESULTS We identified four themes characterizing the process of ASD identification in the target municipalities: (1) Identification of children with ASD is driven by caregivers' sense of concern, acceptance and awareness. (2) Multidisciplinary cooperation and shared decision-making is limited. (3) Skills and training for developmental disabilities screening are underdeveloped. (4) Caregivers' expectations shape the interaction in important ways. CONCLUSIONS Non-standardization of screening methods, limited knowledge and skills on screening and child development among healthcare providers and poor coordination among healthcare providers and caregivers are the main barriers to effective early detection of ASD through well-child visits. The findings suggest the importance of promoting a child-centred care approach through the application of evidence-based screening measures and effective information sharing.
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Affiliation(s)
- Sayaka Horiuchi
- Department of Health Sciences, Division of Medicine, Graduate School Department of Interdisciplinary Research, University of Yamanashi, Yamanashi, Japan
| | - Osamu Nomura
- Department of Health Sciences Education, Hirosaki University, Aomori, Japan
- Centre for Community-based Health Professions Education, Hirosaki University, Aomori, Japan
| | - Leslie Curry
- Global Health Leadership Initiative, Yale School of Public Health, New Haven, Connecticut, USA
| | - Megumi Kushima
- Center for Birth Cohort Studies, University of Yamanashi, Yamanashi, Japan
| | - Linda Arnold
- Global Health Leadership Initiative, Yale School of Public Health, New Haven, Connecticut, USA
- International Pediatric Association (IPA), IPA-LEAD program, Marengo, Illinois, USA
| | - Zentaro Yamagata
- Department of Health Sciences, Division of Medicine, Graduate School Department of Interdisciplinary Research, University of Yamanashi, Yamanashi, Japan
- Center for Birth Cohort Studies, University of Yamanashi, Yamanashi, Japan
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Doi H, Furui A, Ueda R, Shimatani K, Yamamoto M, Sakurai K, Mori C, Tsuji T. Spatiotemporal patterns of spontaneous movement in neonates are significantly linked to risk of autism spectrum disorders at 18 months old. Sci Rep 2023; 13:13869. [PMID: 37620366 PMCID: PMC10449803 DOI: 10.1038/s41598-023-40368-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/13/2023] [Accepted: 08/09/2023] [Indexed: 08/26/2023] Open
Abstract
Infants make spontaneous movements from the prenatal period. Several studies indicate that an atypical pattern of body motion during infancy could be utilized as an early biomarker of autism spectrum disorders (ASD). However, to date, little is known about whether the body motion pattern in neonates is associated with ASD risk. The present study sought to clarify this point by examining, in a longitudinal design, the link between features of spontaneous movement at about two days after birth and ASD risk evaluated using the Modified Checklist for Autism in Toddlers by their caregivers at 18 months old. The body movement features were quantified by a recently developed markerless system of infant body motion analysis. Logistic regression analysis revealed that ASD risk at 18 months old is associated with the pattern of spontaneous movement at the neonatal stage. Further, logistic regression based on body movement features during sleep shows better performance in classifying high- and low-risk infants than during the awake state. These findings raise the possibility that early signs of ASD risk may emerge at a developmental stage far earlier than previously thought.
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Affiliation(s)
- Hirokazu Doi
- Graduate School of Biomedical Sciences, Nagasaki University, 1-12-4 Sakamoto, Nagasaki, Nagasaki, 852-8523, Japan.
- School of Science and Engineering, Kokushikan University, 4-28-1 Setagaya, Setagaya-ku, Tokyo, 154-8515, Japan.
- Department of Information and Management Systems Engineering, Nagaoka University of Technology, 1603-1 Kamitomioka, Nagaoka, Niigata, 940-2188, Japan.
| | - Akira Furui
- Graduate School of Advanced Science and Engineering, Hiroshima University, 1-4-1 Kagamiyama, Higashi-hiroshima, Hiroshima, 739-8527, Japan.
| | - Rena Ueda
- Graduate School of Advanced Science and Engineering, Hiroshima University, 1-4-1 Kagamiyama, Higashi-hiroshima, Hiroshima, 739-8527, Japan
| | - Koji Shimatani
- Faculty of Health and Welfare, Prefectural University of Hiroshima, 1-1, Gakuen-machi, Mihara, Hiroshima, 734-8558, Japan
| | - Midori Yamamoto
- Department of Sustainable Health Science, Center for Preventive Medical Sciences, Chiba University, 1-33 Yayoi-cho, Inage-ku, Chiba, 263-8522, Japan
| | - Kenichi Sakurai
- Department of Nutrition and Metabolic Medicine, Center for Preventive Medical Sciences, Chiba University, 1-33 Yayoi-cho, Inage-ku, Chiba, 263-8522, Japan
| | - Chisato Mori
- Department of Sustainable Health Science, Center for Preventive Medical Sciences, Chiba University, 1-33 Yayoi-cho, Inage-ku, Chiba, 263-8522, Japan
- Department of Bioenvironmental Medicine, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, 260-8670, Japan
| | - Toshio Tsuji
- Graduate School of Advanced Science and Engineering, Hiroshima University, 1-4-1 Kagamiyama, Higashi-hiroshima, Hiroshima, 739-8527, Japan.
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Martínez-González AE, Rodríguez-Jiménez T, Riaño-Hernández D, Alexandra-Atehortúa P, Ramírez-Conde A, Ramírez-García L. Cross-cultural differences in autistic characteristics: a comparison between Spain and Colombia. INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES 2023; 71:105-114. [PMID: 39882425 PMCID: PMC11774157 DOI: 10.1080/20473869.2023.2207298] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 06/30/2022] [Revised: 03/28/2023] [Accepted: 04/22/2023] [Indexed: 01/31/2025]
Abstract
Over the last few years, there has been an increase in the extent of autism spectrum disorder (ASD), with developed countries having a higher incidence than developing ones. On the other hand, Latin America lacks studies on autism because the instruments for its detection and diagnosis have not been psychometrically validated. This study aimed to analyze the differences in ASD traits among individuals in Spain and Colombia, with results indicating no significant differences in sample characteristics regarding age, sex, and type of ASD. However, differences in diagnostic comorbidity with intellectual disability have been found between both samples and factors related to the characteristics of the Colombian cases may have influenced the results. Specifically, higher levels of severity of stereotypes, compulsions, and restricted interests were found in Colombian individuals with ASD compared to the Spanish population. Future studies should increase the sample size and analyze the psychometric properties of autism detection and diagnosis instruments in Colombia.
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Affiliation(s)
| | - Tíscar Rodríguez-Jiménez
- Area of Personality, Assessment and Psychological Treatments (Dept. of Psychology and Sociology). Faculty of Social and Human Sciences, University of Zaragoza (Teruel Campus), Teruel, Spain
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Doi H, Iijima N, Furui A, Soh Z, Yonei R, Shinohara K, Iriguchi M, Shimatani K, Tsuji T. Prediction of autistic tendencies at 18 months of age via markerless video analysis of spontaneous body movements in 4-month-old infants. Sci Rep 2022; 12:18045. [PMID: 36302797 PMCID: PMC9614013 DOI: 10.1038/s41598-022-21308-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/24/2022] [Accepted: 09/26/2022] [Indexed: 01/24/2023] Open
Abstract
Early intervention is now considered the core treatment strategy for autism spectrum disorders (ASD). Thus, it is of significant clinical importance to establish a screening tool for the early detection of ASD in infants. To achieve this goal, in a longitudinal design, we analyzed spontaneous bodily movements of 4-month-old infants from general population and assessed their ASD-like behaviors at 18 months of age. A total of 26 movement features were calculated from video-recorded bodily movements of infants at 4 months of age. Their risk of ASD was assessed at 18 months of age with the Modified Checklist for Autism in Toddlerhood, a widely used screening questionnaire. Infants at high risk for ASD at 18 months of age exhibited less rhythmic and weaker bodily movement patterns at 4 months of age than low-risk infants. When the observed bodily movement patterns were submitted to a machine learning-based analysis, linear and non-linear classifiers successfully predicted ASD-like behavior at 18 months of age based on the bodily movement patterns at 4 months of age, at the level acceptable for practical use. This study analyzed the relationship between spontaneous bodily movements at 4 months of age and the ASD risk at 18 months of age. Experimental results suggested the utility of the proposed method for the early screening of infants at risk for ASD. We revealed that the signs of ASD risk could be detected as early as 4 months after birth, by focusing on the infant's spontaneous bodily movements.
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Affiliation(s)
- Hirokazu Doi
- grid.411113.70000 0000 9122 4296Department of Science and Engineering, Kokushikan University, Setagaya, Japan
| | - Naoya Iijima
- grid.257022.00000 0000 8711 3200Graduate School of Engineering, Hiroshima University, Higashihiroshima, Japan
| | - Akira Furui
- grid.257022.00000 0000 8711 3200Graduate School of Advanced Science and Engineering, Hiroshima University, Higashihiroshima, Japan
| | - Zu Soh
- grid.257022.00000 0000 8711 3200Graduate School of Advanced Science and Engineering, Hiroshima University, Higashihiroshima, Japan
| | - Rikuya Yonei
- grid.257022.00000 0000 8711 3200School of Engineering, Hiroshima University, Higashihiroshima, Japan
| | - Kazuyuki Shinohara
- grid.174567.60000 0000 8902 2273Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
| | - Mayuko Iriguchi
- grid.174567.60000 0000 8902 2273Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
| | - Koji Shimatani
- grid.412155.60000 0001 0726 4429Faculty of Health and Welfare, Prefectural University of Hiroshima, Hiroshima, Japan
| | - Toshio Tsuji
- grid.257022.00000 0000 8711 3200Graduate School of Advanced Science and Engineering, Hiroshima University, Higashihiroshima, Japan
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Williams ZJ, Suzman E, Woynaroski TG. Prevalence of Decreased Sound Tolerance (Hyperacusis) in Individuals With Autism Spectrum Disorder: A Meta-Analysis. Ear Hear 2021; 42:1137-1150. [PMID: 33577214 PMCID: PMC8349927 DOI: 10.1097/aud.0000000000001005] [Citation(s) in RCA: 19] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/27/2022]
Abstract
OBJECTIVES Hyperacusis, defined as decreased tolerance to sound at levels that would not trouble most individuals, is frequently observed in individuals with autism spectrum disorder (ASD). Despite the functional impairment attributable to hyperacusis, little is known about its prevalence or natural history in the ASD population. The objective of this study was to conduct a systematic review and meta-analysis estimating the current and lifetime prevalence of hyperacusis in children, adolescents, and adults with ASD. By precisely estimating the burden of hyperacusis in the ASD population, the present study aims to enhance recognition of this particular symptom of ASD and highlight the need for additional research into the causes, prevention, and treatment of hyperacusis in persons on the spectrum. DESIGN We searched PubMed and ProQuest to identify peer-reviewed articles published in English after January 1993. We additionally performed targeted searches of Google Scholar and the gray literature, including studies published through May 2020. Eligible studies included at least 20 individuals with diagnosed ASD of any age and reported data from which the proportion of ASD individuals with current and/or lifetime hyperacusis could be derived. To account for multiple prevalence estimates derived from the same samples, we utilized three-level Bayesian random-effects meta-analyses to estimate the current and lifetime prevalence of hyperacusis. Bayesian meta-regression was used to assess potential moderators of current hyperacusis prevalence. To reduce heterogeneity due to varying definitions of hyperacusis, we performed a sensitivity analysis on the subset of studies that ascertained hyperacusis status using the Autism Diagnostic Interview-Revised (ADI-R), a structured parent interview. RESULTS A total of 7783 nonduplicate articles were screened, of which 67 were included in the review and synthesis. Hyperacusis status was ascertained in multiple ways across studies, with 60 articles employing interviews or questionnaires and seven using behavioral observations or objective measures. The mean (range) age of samples in the included studies was 7.88 years (1.00 to 34.89 years). The meta-analysis of interview/questionnaire measures (k(3) = 103, nASD = 13,093) estimated the current and lifetime prevalence of hyperacusis in ASD to be 41.42% (95% CrI, 37.23 to 45.84%) and 60.58% (50.37 to 69.76%), respectively. A sensitivity analysis restricted to prevalence estimates derived from the ADI-R (k(3) = 25, nASD = 5028) produced similar values. The estimate of current hyperacusis prevalence using objective/observational measures (k(3) = 8, nASD = 488) was 27.30% (14.92 to 46.31%). Heterogeneity in the full sample of interview/questionnaire measures was substantial but not significantly explained by any tested moderator. However, prevalence increased sharply with increasing age in studies using the ADI-R (BF10 = 93.10, R2Het = 0.692). CONCLUSIONS In this meta-analysis, we found a high prevalence of current and lifetime hyperacusis in individuals with ASD, with a majority of individuals on the autism spectrum experiencing hyperacusis at some point in their lives. The high prevalence of hyperacusis in individuals with ASD across the lifespan highlights the need for further research on sound tolerance in this population and the development of services and/or interventions to reduce the burden of this common symptom.
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Affiliation(s)
- Zachary J. Williams
- Medical Scientist Training Program, Vanderbilt University School of Medicine, Nashville, TN
- Department of Hearing and Speech Sciences, Vanderbilt University Medical Center, Nashville, TN
- Vanderbilt Brain Institute, Vanderbilt University, Nashville, TN
- Frist Center for Autism and Innovation, Vanderbilt University, Nashville, TN
| | - Evan Suzman
- Graduate Program in Biomedical Sciences, Vanderbilt University, Nashville, TN
| | - Tiffany G. Woynaroski
- Department of Hearing and Speech Sciences, Vanderbilt University Medical Center, Nashville, TN
- Vanderbilt Brain Institute, Vanderbilt University, Nashville, TN
- Frist Center for Autism and Innovation, Vanderbilt University, Nashville, TN
- Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN
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Oner O, Munir KM. Modified Checklist for Autism in Toddlers Revised (MCHAT-R/F) in an Urban Metropolitan Sample of Young Children in Turkey. J Autism Dev Disord 2020; 50:3312-3319. [PMID: 31414260 DOI: 10.1007/s10803-019-04160-4] [Citation(s) in RCA: 16] [Impact Index Per Article: 3.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/28/2022]
Abstract
The study assessed the feasibility of using a Turkish-version of the Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R/F) as a screening tool for an urban low risk population of young children. M-CHAT-R/F was completed for 6712 children between ages 16 and 36 months living in Istanbul, Turkey. Autism Diagnostic Observation Schedule-2 was served as the main measure for diagnosis. M-CHAT-R/F screen was positive for 9.8% of children. At follow up interview, 39.7% of initial screen-positive children met criteria for ASD. The study identified 57 (1 in 117) children with ASD (0.8%; 95% CI 0.063-1.05%). M-CHAT-R/F performed comparably in Turkey as in United States. Implications of the study for future universal screening for autism in Turkey is also discussed.
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Affiliation(s)
- Ozgur Oner
- Department of Child Psychiatry, Bahcesehir University School of Medicine, Istanbul, Turkey.
| | - Kerim M Munir
- Boston Children's Hospital, Harvard Medical School, Boston, MA, USA
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Levy SE, Wolfe A, Coury D, Duby J, Farmer J, Schor E, Van Cleave J, Warren Z. Screening Tools for Autism Spectrum Disorder in Primary Care: A Systematic Evidence Review. Pediatrics 2020; 145:S47-S59. [PMID: 32238531 DOI: 10.1542/peds.2019-1895h] [Citation(s) in RCA: 24] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 01/27/2020] [Indexed: 11/24/2022] Open
Abstract
CONTEXT Recommendations conflict regarding universal application of formal screening instruments in primary care (PC) and PC-like settings for autism spectrum disorder (ASD). OBJECTIVES We systematically reviewed evidence for universal screening of children for ASD in PC. DATA SOURCES We searched Medline, PsychInfo, Educational Resources Informational Clearinghouse, and Cumulative Index of Nursing and Allied Health Literature. STUDY SELECTION We included studies in which researchers report psychometric properties of screening tools in unselected populations across PC and PC-like settings. DATA EXTRACTION At least 2 authors reviewed each study, extracted data, checked accuracy, and assigned quality ratings using predefined criteria. RESULTS We found evidence for moderate to high positive predictive values for ASD screening tools to identify children aged 16 to 40 months and 1 study for ≥48 months in PC and PC-like settings. Limited evidence evaluating sensitivity, specificity, and negative predictive value of instruments was available. No studies directly evaluated the impact of screening on treatment or harm. LIMITATIONS Potential limitations include publication bias, selective reporting within studies, and a constrained search. CONCLUSIONS ASD screening tools can be used to accurately identify percentages of unselected populations of young children for ASD in PC and PC-like settings. The scope of challenges associated with establishing direct linkage suggests that clinical and policy groups will likely continue to guide screening practices. ASD is a common neurodevelopmental disorder associated with significant life span costs.1,2 Growing evidence supports functional gains and improved outcomes for young children receiving intensive intervention, so early identification on a population level is a pressing public health challenge.3,4.
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Affiliation(s)
- Susan E Levy
- Center for Autism Research, Department of Pediatrics, The Children's Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
| | - Audrey Wolfe
- Spaulding Rehabilitation Hospital and Harvard Medical School, Harvard University, Boston, Massachusetts
| | - Daniel Coury
- Autism Intervention Research Network on Physical Health and Autism Treatment Network, MassGeneral Hospital for Children, Boston, Massachusetts.,Department of Pediatrics, Nationwide Children's Hospital and School of Medicine, The Ohio State University, Columbus, Ohio
| | - John Duby
- Department of Pediatrics, Boonshoft School of Medicine, Wright State University, Dayton, Ohio
| | - Justin Farmer
- Autism Intervention Research Network on Physical Health and Autism Treatment Network, MassGeneral Hospital for Children, Boston, Massachusetts
| | - Edward Schor
- Lucille Packard Foundation for Children's Health, Palo Alto, California
| | - Jeanne Van Cleave
- General Pediatrics, Children's Hospital Colorado and University of Colorado Anshutz Medical Campus, Aurora, Colorado; and
| | - Zachary Warren
- Vanderbilt Kennedy Center Treatment and Research Institute for Autism Spectrum Disorders, Departments of Pediatrics, Psychiatry, and Special Education, Vanderbilt University, Nashville, Tennessee
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Systematic review: cultural adaptation and feasibility of screening for autism in non-English speaking countries. Int J Ment Health Syst 2018; 12:22. [PMID: 29760771 PMCID: PMC5941599 DOI: 10.1186/s13033-018-0200-8] [Citation(s) in RCA: 22] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/19/2018] [Accepted: 04/12/2018] [Indexed: 01/30/2023] Open
Abstract
Background Screening children for autism has gained wider acceptance within clinical practice, and early intervention has improved outcomes. Increasingly, adapting an existing screening instrument is a common, fast method to create a usable screening tool, especially for countries with limited resources and/or expertise. However, concerns have been raised regarding adaptation adequacy and the feasibility of screening across cultural groups. This study systematically examined the levels of cultural adaptation and feasibility aspects considered when screening for autism in non-English speaking countries to build upon the sparse knowledge that exists on this topic in the literature. Methods Nineteen studies, obtained from five electronic databases, were examined. PRISMA guidance was used for this review. The Ecological Validity Framework model, and Bowen Recommendations for Feasibility were adopted to extract relevant data, which was synthesised narratively. Results Cultural adaptation within the included studies mostly involved language translation with little information offered to enable conclusions on how the processes were guided and maintained. Few cultural adjustments involved modifying screening methods; clarifying difficult concepts and changing instrument content were employed to address the core values, competence, beliefs, and norms of the adapted culture. However, less attention was given to adapt the screening goals within the context of cultural values, and customs or to consider interactional match between the clients and assessors. The review also highlighted an acceptable level of practicality to screen for autism but did not encourage integrating autism screening within routine practice or beyond the study context for different cultures. Conclusion Concurring with previous literature, we agree that knowledge on cultural adaptation for autism screening instruments is limited and not sufficiently documented to establish adaptation levels (process and/or contents), and prove adequacy. However, this review provides an infrastructure to improve future adaptation processes. Integrating autism screening as routine medical practice is not encouraged and warrants further feasibility studies to minimize wasted resources and improve screening effectiveness in various health care systems.
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Srisinghasongkram P, Pruksananonda C, Chonchaiya W. Two-Step Screening of the Modified Checklist for Autism in Toddlers in Thai Children with Language Delay and Typically Developing Children. J Autism Dev Disord 2017; 46:3317-29. [PMID: 27460003 DOI: 10.1007/s10803-016-2876-4] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/28/2022]
Abstract
This study aimed to validate the use of two-step Modified Checklist for Autism in Toddlers (M-CHAT) screening adapted for a Thai population. Our participants included both high-risk children with language delay (N = 109) and low-risk children with typical development (N = 732). Compared with the critical scoring criteria, the total scoring method (failing ≥3 items) yielded the highest sensitivity of 90.7 %; specificity was 99.7 %, positive predictive value 96.1 %, and negative predictive value 99.4 %. The two-step M-CHAT screening is a promising instrument that can be utilized to detect ASD in Thai children in both primary and clinical settings. Moreover, socio-cultural context should be considered when adopting the use and interpretation of the M-CHAT for each country.
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Affiliation(s)
- Pornchada Srisinghasongkram
- Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.,King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Rama IV. Road, Bangkok, Thailand
| | - Chandhita Pruksananonda
- King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Rama IV. Road, Bangkok, Thailand.,Division of Growth and Development, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Sor Kor Building 11th Floor, Bangkok, 10330, Thailand
| | - Weerasak Chonchaiya
- King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Rama IV. Road, Bangkok, Thailand. .,Division of Growth and Development, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Sor Kor Building 11th Floor, Bangkok, 10330, Thailand.
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A review of prevalence studies of Autism Spectrum Disorder by latitude and solar irradiance impact. Med Hypotheses 2017; 109:19-24. [PMID: 29150285 DOI: 10.1016/j.mehy.2017.09.012] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/28/2017] [Revised: 09/07/2017] [Accepted: 09/15/2017] [Indexed: 12/20/2022]
Abstract
Autism Spectrum Disorder (ASD) is a lifelong disability with no known cause or cure. Among the suggested etiologies, is Cannell's hypothesis of a deficiency in Vitamin D the main natural source of which is Solar Ultraviolet-B (UVB) radiation. The aim in this paper is to build on this hypothesis and explore the relationship of solar irradiance of which UVB is a component, by latitude with the prevalence rates of ASD. Twenty-five reports published between 2011 and 2016 using comparable diagnostic criteria were reviewed. The results suggest a tendency for the prevalence rates of ASD to be lowest in countries near the equator and for this rate to increase as the latitude increases. These findings provide some support not just for the Vitamin D hypothesis, but also for a new proposition that along with UVB radiation, the entire solar radiation spectrum which reaches the earth, may play a role in ASD. While these results are both novel and encouraging in terms of the potential efficacy of exposure to natural sunlight, further research is warranted before results can be considered definitive, and before the implications of the findings can be implemented clinically.
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Perera H, Jeewandara KC, Seneviratne S, Guruge C. Culturally adapted pictorial screening tool for autism spectrum disorder: A new approach. World J Clin Pediatr 2017; 6:45-51. [PMID: 28224095 PMCID: PMC5296629 DOI: 10.5409/wjcp.v6.i1.45] [Citation(s) in RCA: 27] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/29/2016] [Revised: 10/22/2016] [Accepted: 11/17/2016] [Indexed: 02/06/2023] Open
Abstract
AIM To assess the performance of a newly designed, culturally adapted screening tool for autism spectrum disorder (ASD).
METHODS Items for the screening tool were modeled from already documented checklists and diagnostic criteria for ASD. Each item in text was paired with a photograph that illustrated the written content, which was in the 2 main local languages. The final product had 21 items and was named the pictorial autism assessment schedule (PAAS). Performance of PAAS was tested on a clinical sample of 18-48 mo old children, diagnosis naïve, presenting with developmental deficits. Mothers completed PAAS checklist. Based on clinical diagnosis, which was taken as the gold standard, children were later grouped into ASD (Group 1) and non-ASD developmental disorders (Group 2). Mothers of a control sample of typically developing children also completed PAAS (Group 3).
RESULTS A total of 105 children (Group 1-45, Group 2-30, Group 3-30) participated in the study. Mean age of Group 1 and Group 2 were 36 and 40 mo respectively. Majority were male in all 3 groups. Performance of PAAS in discriminating between ASD and non-ASD developmental disorders was sensitivity 88.8%, specificity 60.7%, positive predictive value (PPV) 78.4%, negative predictive value (NPV) 77.2%, likelihood ratio (LR+) 2.26, and LR- 0.18. Performance of PAAS in discriminating between ASD and typical development was sensitivity 88.0%, specificity 93.3%, PPV 95.2%, NPV 84.0%, LR+ 13.3 and LR- 0.12. The results indicated that that a positive result from PAAS was 2.26 times more likely to be found in a child with ASD than in a child with non-ASD developmental disorder. A positive result from PAAS was 13.3 times more likely to be found in a child with ASD than in a child with typical development.
CONCLUSION PAAS is an effective tool in screening for ASD. Further study is indicated to evaluate the feasibility of using this instrument for community screening for ASD.
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Brennan L, Fein D, Como A, Rathwell IC, Chen CM. Use of the Modified Checklist for Autism, Revised with Follow Up-Albanian to Screen for ASD in Albania. J Autism Dev Disord 2016; 46:3392-3407. [PMID: 27491423 PMCID: PMC5074853 DOI: 10.1007/s10803-016-2875-5] [Citation(s) in RCA: 22] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/12/2023]
Abstract
The Modified Checklist for Autism in Toddlers Revised-Albanian screener (M-CHAT-R-A) was used to screen 2594 toddlers, aged 16-30 months, at well-child visits. Two hundred fifty-three (9.75 %) screened positive; follow up on failed items were conducted by phone with 127 (50 %); the remainder were lost to follow-up. Twenty-six toddlers (21 %) continued to screen positive; 19 received full evaluations, which assessed for ASD with the Autism Diagnostic Observation Schedule and developmental delays with the Parents Assessment of Developmental Status-Developmental Milestones. All evaluated children had significant delays; 17 of the 19 met criteria for Autism/ASD. Removal of three items improved performance. Although Albania and the US are quite different in culture and language, key features of ASD appeared very similar.
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Affiliation(s)
- Laura Brennan
- Dept. of Psychology, University of Connecticut, Storrs, CT
| | - Deborah Fein
- Depts. of Psychology and Pediatrics, University of Connecticut, Storrs, CT, tel: 413-519-1324, fax: 860-486-2760
| | - Ariel Como
- Tirana Medical University, Medical Director, “Domenick Scaglione” Regional Center for Autism, Tirana, Albania
| | | | - Chi-Ming Chen
- Department of Psychology, University of Connecticut, Storrs, CT
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