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Sensitivity and Specificity of Early Screening for Autism

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Sensitivity and Specificity of Early Screening for Autism BJPsych Open (2019) 5, e41, 1–8. doi: 10.1192/bjo.2019.34 Sensitivity and specificity of early screening for autism Pål Surén, Alexandra Saasen-Havdahl, Michaeline Bresnahan, Deborah Hirtz, Mady Hornig, Catherine Lord, Ted Reichborn-Kjennerud, Synnve Schjølberg, Anne-Siri Øyen, Per Magnus, Ezra Susser, W. Ian Lipkin and Camilla Stoltenberg Background (95% CI 58–79) for ASD without phrase speech and 34% (95% CI – Early identification and diagnosis is beneficial for children with 29 40) for ASD with phrase speech. Specificity was then reduced – autism spectrum disorder (ASD). Universal early screening is to 89% (95% CI 89 90). recommended by many experts, but disputed because evidence is limited, and sensitivity and specificity in general populations Conclusions are largely unknown. Early ASD screening with a parent checklist had low sensitivity. It identified mainly individuals with ASD with significant develop- Aims mental delay and captured very few children with ASD with To estimate the sensitivity and specificity of early population- cognitive skills in the normal range. Increasing sensitivity was not based screening for ASDs. possible without severely compromising specificity. Method Declaration of interest The study was based on the Norwegian Mother and Child Cohort C.L. receives royalty for the Social Communication Study. The 36-month cohort questionnaire included the Social Questionnaire, which she has co-authored. Communication Questionnaire (SCQ), a 40-item screening instrument for ASD. Keywords Results Autistic spectrum disorders; developmental disorders; A total of 58 520 mothers (58%) responded to the questionnaire. epidemiology. By the end of follow-up on 31 December 2015, 385 (0.7%) indi- viduals with ASD had been identified among the responders’ Copyright and usage children. The distributions of SCQ scores in those with ASD and © The Royal College of Psychiatrists 2019. This is an Open Access other children had large degrees of overlap. With the cut-off of 15 article, distributed under the terms of the Creative Commons recommended in the SCQ manual, screening sensitivity was 20% Attribution-NonCommercial-NoDerivatives licence (http://creati- (95% CI 16–24) for ASD overall. For children with ASD who had vecommons.org/licenses/by-nc-nd/4.0/), which permits non- not developed phrase speech at 36 months, sensitivity was 46% commercial re-use, distribution, and reproduction in any (95% CI 35–57%), whereas it was 13% (95% CI 9–17) for children medium, provided the original work is unaltered and is properly with ASD with phrase speech. Screening specificity was 99% cited. The written permission of Cambridge University Press (95% CI 99–99). With the currently recommended cut-off of 11, must be obtained for commercial re-use or in order to create a sensitivity increased to 42% for ASD overall (95% CI 37–47), 69% derivative work. Autism spectrum disorder (ASD) are neurodevelopmental disor- score above a defined threshold on the questionnaire. In a popula- ders characterised by persistent impairment in reciprocal social tion-based study of 15 612 children aged 16–30 months in the communication and social interaction, and restricted, repetitive pat- USA, the M-CHAT-R/F had a positive predictive value of 47.5% terns of behaviour, interests and activities.1 Symptoms usually for ASD and 94.6% for all types of developmental concerns and present at an early age, typically during the second year of life.1 delays.4 Early identification and diagnosis is assumed to be beneficial, A recent review by the US Preventive Services Task Force of because it facilitates access to interventions that may improve the published studies of universal ASD screening in children below 36 child’s long-term developmental outcomes.2 It may also be helpful months of age noted the lack of follow-up to identify false nega- in obtaining immediate assistance to children and their families.2 tives.5 Without this information, it has not been possible to estimate However, universal ASD screening is controversial and the evidence sensitivity and specificity of screening instruments, and therefore supporting such screening is weak. The current guidelines from not possible to fully assess the effectiveness of ASD screening. the American Academy of Pediatrics state that ASD screening This was also a limitation of the large study of the M-CHAT-R/F, should be included in general developmental check-ups at ages which did not include complete follow-up of the screen-negative 18 and 24 months.2 The British guidelines, on the other hand, do children.4 Furthermore, it is not well-known whether screening not recommend universal ASD screening.3 performance is modified by other characteristics of the child and the family, and whether there are disadvantages in implementing universal screening for ASD. Screening tools for ASD Consequently, we do not know whether existing screening tools A number of screening tools for ASD are available. For children for ASD comply with the screening criteria recommended by the under 30 months of age, the most widely used is the Modified World Health Organization.6 According to these criteria, health Checklist for Autism in Toddlers, Revised with Follow-Up screening should not be implemented unless it has been demon- (M-CHAT-R/F).4 The M-CHAT-R/F includes a standardised strated that the screening test is effective and that the benefits of questionnaire and an additional follow-up interview for those who screening outweigh the harm and the costs. 1 Downloaded from https://www.cambridge.org/core. 02 Oct 2021 at 01:39:55, subject to the Cambridge Core terms of use. Surén et al Aims older.7 The investigators who initiated the screening procedures in In this study, we have estimated the sensitivity and specificity of the 2004 decided not to use the seven verbal SCQ items for screening, Social Communication Questionnaire (SCQ) for ASD screening at because they assumed that a large proportion of children with 36 months of age.7 The SCQ is a 40-item questionnaire that was ini- ASD would not have developed spoken language by 3 years of tially designed for ASD screening in individuals aged 4 years and age. In order to ensure high sensitivity, it was decided to use a older.7 Our study was conducted in the Norwegian Mother and more lenient cut-off level than 15, and screen-positivity for ASD ≥ Child Cohort (MoBa).8 The cohort participants have been followed was defined by a score of 12 on the 33 non-verbal SCQ items. for a number of years after screening to capture all individuals diag- Screen-positive children were invited to participate in a 1-day diag- nosed with ASD. nostic assessment. A randomly selected group of age-matched con- trols was also invited. Controls were selected every 2 weeks among MoBa participants who had passed the age of 37.5 months during Method the 2 preceding weeks. Even though the seven verbal SCQ items were not used for Study population screening by the ABC Study, the data are still available. In this article, we have included all the SCQ items in the analyses. We MoBa is a nationwide, prospective, population-based cohort that have also estimated the sensitivity and specificity of the SCQ at dif- includes 114 552 children born from 1999 to 2009.8 Mothers were ferent cut-off levels: recruited at the ultrasound examination provided free of charge to all pregnant women around gestational week 18. Of the women (a) the cut-off recommended by the SCQ manual: ≥15 for the 39 invited to participate, 41% consented. Fathers were also invited to scored items. participate if the mothers had consented first. The parents com- (b) the cut-off recommended by more recent studies: ≥11 for the pleted questionnaires during pregnancy, and have continued to 39 scored items. receive questionnaires as the children grow older. Children with (c) the cut-off used in the ABC Study: ≥12 for the 33 non-verbal ASD diagnoses have been identified and ascertained through the items. Autism Birth Cohort (ABC) Study, a study of ASD nested within MoBa.9 Other methods of identifying potential individuals with The 36-month questionnaire was distributed to MoBa partici- ASD pants born in 2001 and later, a total of 100 364 children. Of these, In addition to screening, the ABC Study used several methods to there were 58 520 (58%) whose parents returned the questionnaire. detect individuals with ASD in the cohort. The following partici- ASD case ascertainment has been conducted until 31 December pants were considered to potentially have ASD and invited to the 2015. By that time, the age range of the children whose parents com- clinical assessments. pleted the 36-month questionnaire was 6.5–14.7 years (mean 10.2 years). (a) Children referred from their physicians or parents, if there was reason to suspect ASD. Referrals were elicited through annual newsletters to MoBa participants and information on the The SCQ website of the Norwegian Institute of Public Health. The SCQ items are modified questions from the standardised diag- (b) Children whose parents reported autism, Asperger syndrome – nostic interview for ASD, the Autism Diagnostic Interview or autistic traits in the MoBa questionnaires at ages 5 and 7 10 Revised (ADI-R). The items were selected to detect deficits in years. social interaction and communication, and repetitive and stereo- (c) Children diagnosed with ASD by specialist health services. Data 7 typed behaviours. The first SCQ item is used to determine if the from all hospitals and out-patient clinics are reported to the child has phrase speech. If so, the other 39 items are scored. A Norwegian Patient Register (NPR), beginning in 2008.14 ≥ total score of 15 is considered screen-positive for ASD.
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