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Autism spectrum disorder in children and adolescents: Screening tools

Autism spectrum disorder in children and adolescents: Screening tools
Author:
Laura Weissman, MD
Section Editor:
Marilyn Augustyn, MD
Deputy Editor:
Diane Blake, MD
Literature review current through: Jan 2024.
This topic last updated: Jan 24, 2024.

INTRODUCTION — Autism spectrum disorder (ASD) is a biologically based neurodevelopmental disorder characterized by deficits in social communication and social interaction and restricted, repetitive patterns of behavior, interests, and activities.

Screening tools for ASD will be reviewed here. The rationale for screening and management of children according to screening test results, and the epidemiology, pathogenesis, clinical features, diagnosis, and management of ASD are discussed separately:

(See "Autism spectrum disorder in children and adolescents: Surveillance and screening in primary care".)

(See "Autism spectrum disorder (ASD) in children and adolescents: Terminology, epidemiology, and pathogenesis".)

(See "Autism spectrum disorder in children and adolescents: Clinical features".)

(See "Autism spectrum disorder in children and adolescents: Evaluation and diagnosis".)

(See "Autism spectrum disorder in children and adolescents: Overview of management".)

OVERVIEW

Definitions — Screening is defined as a brief, formal, standardized evaluation used to identify unsuspected deviations from normal patterns of development. A screening instrument enables detection of conditions/concerns that may not be readily apparent without screening. Screening does not provide a diagnosis; it helps to determine whether additional investigation (eg, a diagnostic evaluation) by clinicians with special expertise in pediatric development is necessary [1]. Effective screening requires that results from standardized screening tests be considered in conjunction with clinical judgment. Desirable characteristics of developmental and behavioral screening tests are discussed separately. (See "Developmental-behavioral surveillance and screening in primary care", section on 'Choice of screening test'.)

Indications — Screening for ASD is indicated in children with delayed language/communication milestones, in children with a regression in social or language skills, and in children whose caregivers raise concerns regarding ASD at any time. In addition, the American Academy of Pediatrics and the Centers for Disease Control and Prevention recommend ASD-specific screening of all children at 18 and 24 months of age because these are critical times for early social and language development, and earlier intervention is more effective for ASD [1,2]. Other expert groups do not make specific recommendations for ASD screening but incorporate it into general developmental and behavioral screening. (See "Autism spectrum disorder in children and adolescents: Surveillance and screening in primary care" and 'Society guideline links' below.)

Tiered screening model — First-tier screening is used to identify children at risk for ASD from a general population. Second-tier screening is used to discriminate ASD from other developmental disorders in children with developmental concerns. Second-tier screening tools are appropriate for use in children who have failed general developmental screening or an ASD-specific screening test, depending upon the age of the child and level of concern. Second-tier tools are usually more time consuming and may require more expertise to administer and interpret. (See "Developmental-behavioral surveillance and screening in primary care".)

Choosing which tools to use depends upon the risks in the population being screened and resources available in the practice or community setting (table 1).

Important caveats — Early identification of ASD requires the use of ASD-specific screening tools. General developmental screening tools (ie, broadband screeners) are poor predictors of ASD because they assess different domains of developmental concern than autism-specific screening tools [3]. Studies evaluating the utility of broadband screeners find that they lack specificity and may result in over-referral for ASD diagnostic evaluation [4-6]. However, two-step strategies incorporating use of an autism-specific screener in those who fail general screening may improve identification of children at risk while reducing false positives.

Limitations of current screening tools – Although the available ASD-specific screening tools are more accurate than general developmental screening tools for identifying ASD, they have limited sensitivity (ability to identify young children with ASD) and specificity (ability to discriminate ASD from other developmental disorders, such as language disorders and global developmental delay) [7]. Due to the variability in the natural course of early social and language development, some children who have initial positive screens (suggesting that they are at risk for ASD) ultimately will not meet diagnostic criteria for ASD [8]. Other children who pass early screens for ASD may present with atypical concerns later in the second year of life and eventually be diagnosed with ASD.

To optimize early identification of children at risk for autism, sensitivity is more important than specificity for first-tier screens. Thus, first-tier screening tools for ASD may be positive in children with variable (but eventually normal) social and language development and in children with other developmental disorders (eg, language disorders, global developmental delay). Such children will require follow-up and/or second-tier screening to better characterize their developmental concern(s). However, the potential over-referral of children with positive first-tier screens is preferable to missing children at risk for ASD.

Importance of age – Screening tools that are appropriate for toddlers may be less sensitive when used for preschoolers or school-age children. The sensitivity and specificity of the ASD screening tools vary depending upon the age of the child and the severity of symptoms. The behavioral skills assessed to identify young children at risk for ASD (imitation, joint attention, and play) are developmentally sensitive. Older children with ASD and those who have received appropriate intervention can and do acquire these skills. (See "Autism spectrum disorder in children and adolescents: Clinical features".)

Validation – When choosing a screening tool, it is important to know how well the tool performs (eg, the sensitivity, specificity, positive predictive value) in the population in which it will be used. Many of the screening tools for ASD have been validated in high-risk populations (ie, referral clinic, early intervention) but have not been validated in low-risk populations (eg, primary care, general population, community samples) (table 1).

Other factors may influence interpretation of scores on various screening tests. Cut-off scores for "failing screening" may differ depending on comorbid developmental concerns such as language or motor delay (eg, the Modified Checklist for Autism in Toddlers [M-CHAT] appears to have low specificity in children who were born before 28 weeks' gestation and have associated motor, cognitive, visual, and hearing impairments [9-12]; the Social Communication Questionnaire [SCQ] may be less valid in young children with limited language). (See 'Modified Checklist for Autism in Toddlers, Revised with Follow-Up' below and 'Social Communication Questionnaire' below.)

Some authors have raised concern regarding the use of a screening measure that relies solely on caregiver report, suggesting that caregivers may report that the child has skills that health professionals were not able to elicit, leading to falsely negative screens [13,14].

TOOLS FOR CHILDREN <3 YEARS — Several screening tools have been developed for use in children younger than three years of age (table 1). All include screening for early social and language milestones (table 2).

Modified Checklist for Autism in Toddlers, Revised with Follow-Up — The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F), is a two-stage tool to assess risk for ASD in children between 16 and 30 months of age [15]. The M-CHAT-R/F is available in many languages and translation to additional languages is under way; the psychometric properties may differ in translated versions [16]. The M-CHAT-R/F is copyrighted but the English version and available translations can be downloaded free of charge through the Official M-CHAT website. Compared with the original M-CHAT, the revised version includes fewer questions, a different order of questions, simplified language, examples, and simplified scoring [17].

The first stage is a 20-item, yes/no caregiver-report questionnaire (a combination of questions from the CHAT and questions addressing core symptoms of ASD) [18]. It takes less than five minutes to administer and two minutes to score [17]. The second stage consists of a structured follow-up questionnaire administered by a health care professional. It consists of the same questions as the first stage but probes for additional information and examples of at-risk behaviors for any items failed on the first stage. It takes approximately 5 to 10 minutes to administer.

The total score for the first stage determines the risk category and follow-up [17]:

0 to 2 – Low risk; no further evaluation unless there are other risk factors

3 to 7 – Medium risk; requires administration of the second stage; a total score of ≥2 on the second stage warrants immediate referral for diagnostic evaluation and early intervention

8 to 20 – High risk; warrants immediate referral for diagnostic evaluation and early intervention; no need for follow-up interview

The M-CHAT-R/F was validated in 16,071 toddlers during 18- and 24-month health supervision visits; 123 (0.77 percent) were diagnosed with ASD [17]. Diagnosis of ASD was determined by a psychologist or developmental pediatrician's clinical judgment of all available information, including tools for ASD diagnosis such as the Autism Diagnostic Observation Schedule (ADOS), Childhood Autism Rating Scale-2, and the Toddler Autism Symptom Interview. Key findings included:

After the first stage, 93 percent of children were low risk, 6 percent were medium risk, and 1 percent were high risk.

The recommended scoring (combination of a total score ≥3 on the first stage and ≥2 in the second stage) had a sensitivity of 85 percent and a specificity of 99 percent (table 3); the addition of the follow-up interview increased the positive predictive value (PPV) from 14 to 48 percent.

Children in the study population were diagnosed at an average age of just over two years, earlier than the national median age at diagnosis (later than four years in many communities [19]).

Compared with the original M-CHAT with follow-up [20], the M-CHAT-R/F detected more children with ASD (67 versus 45 cases per 10,000) and reduced the number of children who required follow-up interview (7 versus 9 percent); however these studies were performed in different samples and it is possible that increased detection may reflect the increased prevalence in ASD over time. (See "Autism spectrum disorder (ASD) in children and adolescents: Terminology, epidemiology, and pathogenesis", section on 'Prevalence'.)

A meta-analysis of 15 studies conducted between 2014 and 2021 with 18 distinct populations from 10 countries was undertaken to assess the performance of the M-CHAT-R/F [21]. The pooled sensitivity was 83 percent, which was similar to the finding from the validation study described above [17]. The pooled sensitivity supports the use of the M-CHAT-R/F to screen for ASD. However, the specificity was 46 percent, and the positive predictive value was 58 percent (95% CI 49-67 percent). Thus, the meaning of a positive screen should be carefully explained to caregivers given that approximately one-half of the children who screened positive in this analysis were not diagnosed with ASD at follow-up.

In a subsequent observational study in a sample of high-risk younger siblings of children with ASD, the M-CHAT-R/F performed as well as or better than in the general low-risk population [22].

In a primary care-based observational study of 377 children (208 males and 168 females) aged 17 to 36 months, the addition of a tablet-based digital application that assessed reactions to different stimuli increased the sensitivity of the M-CHAT-R/F from 88 to 92 percent and the specificity from 81 to 92 percent [23].

In a prospective observational study comparing the paper version of M-CHAT-R/F to an electronic version, the electronic version had a modestly lower sensitivity but was associated with a shorter time interval to follow-up screening (mean <1 day versus mean 106 days) and a higher completion rate (100 versus 70 percent) [24].

Screening Tool for Autism in Toddlers and Young Children — The Screening Tool for Autism in Toddlers and Young Children (STAT) is an interactive measure that can be used for screening in children age 24 to 36 months [25,26]. It was designed to discriminate between autism and other developmental disorders. Although it is primarily a second-stage screen, the STAT is used by primary care providers for enhanced screening in some programs [27].

The STAT consists of a 20-minute-long play-based session during which 12 activities in four domains are observed: play (two activities), requesting (two activities), directing attention (four activities), and motor imitation (four activities) [26]. Language comprehension is not required [28]. Each domain is scored as the proportion of failed items to total items, with an overall score ranging from 0 to 4, and higher scores indicating greater impairment. Training is required for both administration and scoring.

In a validation study in 52 children (26 with autism and 26 with developmental delay and/or language impairment), using a cut-off score of 2, the STAT had a sensitivity and specificity of 92 and 85 percent, respectively, using the ADOS-Generic (ADOS-G) to verify diagnosis [26]. In another study of 71 high-risk children (older sibling with ASD or referred for evaluation of ASD), using a cut-off score of 2.75, the STAT had a sensitivity of 95 percent and specificity of 73 percent [29].

Infant-Toddler Checklist — Researchers continue to search for screening tools that can accurately identify children at risk for ASD as early as possible. The Infant-Toddler Checklist (ITC) is a 24-item questionnaire that is a component of the Communication and Symbolic Behavior Scales Developmental Profile (CSBS-DP). The ITC is a broadband screener for communication delays for children age 6 to 24 months. The ITC and scoring instructions are available free of charge through the Brookes Publishing Company (www.brookespublishing.com/resource-center/screening-and-assessment/csbs/csbs-dp/csbs-dp-itc).

The ITC has a sensitivity and specificity of 88.9 percent for identifying toddlers with ASD or other developmental delays [30]. Although the ITC does not discriminate between ASD and other communication disorders, children with ASD tend to score in the lower 10th percentile on the communication composite (emotion and use of eye gaze, use of communication, use of gestures). In a study screening 5385 children from a general population, the ITC identified 56 of 60 (93 percent) of children ultimately diagnosed with ASD [30]. The ITC had a PPV of 71 to 79 percent and negative predictive value of 88 to 99 percent for 9- to 24-month-olds. PPV was poor for six- to eight-month-olds.

A prospective study demonstrated the feasibility of using the ITC to screen for ASD, language delay, and developmental delay at the 12-month visit [31]. Among the 184 children who failed the ITC and were followed until 32 to 36 months of age, the ITC had a PPV of 75 percent. Twenty percent of children were diagnosed with ASD and 55 percent with language delay, developmental delay, or other associated issue. Children were referred for behavioral treatment when the diagnosis was confirmed with standardized testing and clinical judgment. On average, treatment began at approximately 17 months of age. In a subsequent study, digital screening with the ITC at age 12, 18, and 24 months as part of a comprehensive community-wide neurodevelopmental screen-evaluate-treat model was associated with increased detection of ASD and earlier evaluation and referral for treatment [32].

Parent's Observations of Social Interactions — The Parent's Observations of Social Interactions (POSI) is a seven-item caregiver-report screening instrument for ASD in children 16 months to 35 months. It was developed as part of a comprehensive primary care screening instrument, the Survey of Wellbeing of Young Children (SWYC) [33]. The POSI encompasses five of the six critical items of the M-CHAT and two questions about behavior based upon the Diagnostic and Statistical Manual of Mental Disorders (DSM) criteria [34]. The POSI and POSI scoring guide are freely available from Tufts Medicine.

In a validation study in 232 children (16 to 36 months) from primary care and specialty clinic populations, sensitivity and specificity were 83 and 75 percent, respectively [34]. In 217 children (18 to 48 months) from a developmental-behavioral clinic, the sensitivity and specificity were 89 and 54 percent, respectively [34]. In a retrospective study of 524 children (16 to 48 months) referred to a developmental-behavioral clinic, the sensitivity and specificity of the POSI were 94 and 41 percent, respectively, in children age 16 to 30 months, and 75 and 48 percent, respectively, in children age 31 to 48 months [35].

TOOLS FOR PRESCHOOL AND SCHOOL-AGE CHILDREN — In the United States, autism-specific screening is recommended at 18 and 24 months and when concerns are identified. Thus, there are fewer studies of screening in older children and less direct experience with the available screening tools in clinical practice. However, the median age of diagnosis of ASD is still later than four years in many communities [19]. Because older children spend a significant portion of their day and their peer interactions in the school setting, tools that incorporate observations or ratings from teachers could add useful information to the screening process. Further research is needed to guide clinicians about the best method of screening for ASD in older children.

Social Communication Questionnaire — The Social Communication Questionnaire (SCQ), formerly known as the Autism Screening Questionnaire, was developed from the Autism Diagnostic Interview-Revised (ADI-R), the gold-standard diagnostic interview used in research studies. The SCQ is used primarily as a second-stage screen in research; its use as a primary screen is limited by lack of validation in a large community population sample. (See "Autism spectrum disorder in children and adolescents: Evaluation and diagnosis", section on 'Diagnostic tools'.)

The SCQ was developed for use in preschool and school-age children (four years and older) [36,37]. The SCQ is a caregiver-report screen that consists of 40 yes/no questions. There are two forms, one for children younger than six years and one for children age six years and older. The SCQ can usually be completed by the primary caregiver in less than 10 minutes and takes less than five minutes to score [38]. The SCQ can be ordered through Western Psychological Services (www.wpspublish.com).

The SCQ was validated in a high-risk sample of 200 patients ages 4 to 40 years whose caregivers had previously completed the ADI-R; 160 patients had ASD according to the ADI-R [36]. A cut-off score of 15 on the SCQ had a sensitivity and specificity of 85 and 75 percent, respectively, for ASD according to the ADI-R.

In another study of 151 children (mean age five years) referred for evaluation, a cut-off score of 15 on the SCQ had a sensitivity of 71 percent and a specificity of 79 percent [38]. The SCQ missed some children with milder phenotypes and higher IQs. Lowering the cut-off score to 11 improves sensitivity but lowers specificity.

In another study of 808 children aged 18 to 48 months referred to community child health or speech and language services, a cut-off score of 15 on the SCQ had a sensitivity of 64 percent and specificity of 75 percent [39].

Different cut-off scores may be needed for verbal and nonverbal individuals since several items related to verbal language are not included in the final score for nonverbal individuals. In the validation study [36], the authors concluded that a cut-off score of 15 could be used for verbal and nonverbal subjects without impacting the psychometric properties. However, in a subsequent study with a younger clinic population, researchers found differences between scores in verbal and nonverbal individuals related to missing data (questions left blank) [40].

Questions remain regarding the optimal cut-off score, whether a shorter version would be more reliable in younger children, and whether scoring needs to be adjusted for items that are omitted (ie, items related to speech in nonverbal children) [38].

Studies evaluating the predictive value of the SCQ in a general population sample are lacking. In a study that assessed the SCQ in both a special-needs and general school-age population sample, 4 to 5 percent of the 658 children from the general population sample scored in the ASD range (≥15) [41]. Among those who scored above the ASD cut-off, 90 percent had ASD or a neurodevelopmental disorder (eg, learning difficulty, language delay, attention deficit hyperactivity disorder), suggesting that the SCQ may be an appropriate first-tier screen.

Autism Spectrum Screening Questionnaire — The high-functioning Autism Spectrum Screening Questionnaire (ASSQ) is a 27-item checklist designed for screening for symptoms of Asperger disorder (and other high-functioning ASDs) in the clinical setting [42]. It is designed for use in children ages 7 to 16 years. The 27 items are rated on a three-point scale and can be completed by caregivers or teachers. The ASSQ takes 10 minutes to complete.

The authors provide a receiver operating characteristic curve to indicate the range of sensitivity and specificity provided with different cut-off scores and suggest that the clinician can choose a cut-off score to serve individual diagnostic needs. A higher cut-off score will increase sensitivity but decrease specificity:

A cut-off score of 19 for caregiver ratings is associated with a sensitivity and specificity of 62 and 90 percent, respectively.

A cut-off score of 22 for teacher ratings is associated with a sensitivity and specificity of 70 and 91 percent, respectively.

When these parameters were applied to a validation sample of individuals with known Asperger disorder (according to Gillberg and Gillberg, International Classification of Diseases, 10th Revision [ICD-10], or Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition [DSM-IV] criteria) a caregiver rating cut-off of 19 had a sensitivity of 82 percent, and the teacher rating cut-off of 22 had a sensitivity of 65 percent [42]. Asperger disorder was a distinct disorder in the ICD-10 and the DSM-IV-Text Revision (DSM-IV-TR), but in the ICD 11th Revision (ICD-11) and the DSM Fifth Edition Text Revision (DSM-5-TR), Asperger disorder is encompassed within the diagnosis of ASD [43,44]. (See "Autism spectrum disorder (ASD) in children and adolescents: Terminology, epidemiology, and pathogenesis", section on 'Terminology'.)

When validated in a general population sample of 9430 seven- to nine-year-old children, a cut-off score of ≥17 (combined caregiver and teacher ratings) provided a sensitivity of 91 percent and specificity of 86 percent [45].

Autism Spectrum Quotient — The Autism Spectrum Quotient (AQ) is a self-administered questionnaire for adults with normal intelligence [46]. The AQ consists of 50 questions assessing social skills, attention, communication, and imagination. It is available through the Autism Research Centre.

In a comparative study, the AQ successfully discriminated individuals with Asperger disorder or high-functioning ASD from randomly selected controls [46]. Scores above the cut-off of 32 were found in 80 percent of the clinical sample but only 2 percent of the control sample. In the control group, men were more likely than women to have elevated scores. In two additional control groups, composed of Cambridge University students and Mathematics Olympiad winners, scientists and especially mathematicians had scores significantly higher than humanities students.

AQ scores are stable across cultures in both Japanese and Austrian samples [47,48].

AQ-Child — The AQ-Children's Version (AQ-Child) is a caregiver-report measure for 4- to 11-year-olds. In a study comparing scores in 540 children with ASD with those of 1225 children from a general population, the AQ-Child had a sensitivity and specificity of 95 percent [49]. Further studies are ongoing.

TOOLS FOR CHILDREN WITH INTELLECTUAL DISABILITIES

Developmental Behaviour Checklist-Autism Screening Algorithm — The Developmental Behaviour Checklist-Autism Screening Algorithm (DBC-ASA) is composed of 29 items from the Developmental Behavior Checklist for Pediatrics (DBC-P), a 96-item caregiver-report tool used to assess behavioral and emotional disturbance in 4- to 18-year-old individuals with intellectual disability [50]. This shortened instrument is an effective screening tool for autism in 4- to 18-year-old children with intellectual disabilities. In a validation study of 180 children who met criteria for autism and 180 controls matched for age, sex, and IQ range using a cut-off score of 17, the DBC-ASA had a sensitivity and specificity of 86 and 69 percent, respectively. However, the DBC-ASA may be falsely positive in children with significant behavior problems [51].

Developmental Behaviour Checklist-Early Screen — The Developmental Behaviour Checklist-Early Screen (DBC-ES) uses 17 items from the DBC-P to screen for autism in developmentally delayed children 18 to 48 months of age [52]. With a cut-off score of ≥10.5, the DBC-ES had a sensitivity and specificity of 88 and 69 percent, respectively, when validated in a study population of 60 children with developmental delay and autism and 60 control children with developmental delay without autism.

A subsequent study of 207 children ages 20 to 51 months in a community sample [53] found high sensitivity (83 percent) but lower specificity (48 percent) than in the initial validation study [52]. A five-item version also had high sensitivity (85 percent) but low specificity (49 percent) [53].

COMPARISON STUDIES — Several studies have directly compared screening tools in specific populations:

A study that examined multiple screening tools including the Social Communication Questionnaire (SCQ), Infant-Toddler Checklist (ITC), and key items from the Checklist for Autism in Toddlers (CHAT) in a population of 238 high-risk children (clinician concern or positive first-tier screen) found that none of the instruments adequately discriminate ASD from non-ASD [54].

In a study comparing the Modified Checklist for Autism in Toddlers (M-CHAT) with the SCQ in a subsample of 39 preschool children referred for suspected ASD, the M-CHAT correctly classified 24 of 29 children with ASD and 5 of 10 children with non-ASD disorders; the SCQ correctly identified 21 of 29 children with ASD and 3 of 10 children with non-ASD disorders. Both instruments were more accurate in children with lower intellectual and adaptive functioning [55].

In a study comparing the Parent's Observations of Social Interactions (POSI) with the M-CHAT in 232 children (16 to 36 months) from primary care and specialty clinic populations, the POSI had higher sensitivity (83 versus 50 percent) but lower specificity (75 versus 84 percent). In another study comparing the M-CHAT with the POSI in 217 children (18 to 48 months) from a developmental clinic, the sensitivity of the POSI was higher (89 versus 71 percent), but specificity was not significantly different (54 versus 62 percent) [34]. Of note, the M-CHAT has been validated only in children up to 30 months of age, so it was not used as indicated; in addition, a revised version of the M-CHAT (M-CHAT-R/F) was released after this study. (See 'Modified Checklist for Autism in Toddlers, Revised with Follow-Up' above.)

In a study investigating the validity of identifying ASD in a sample of 49 children with intellectual disability, the Developmental Behaviour Checklist-Autism Screening Algorithm (DBC-ASA) showed a similar sensitivity (94 versus 92 percent) and lower specificity (46 versus 62 percent) compared with the SCQ. Six of the seven children with false positive scores on the DBC-ASA had elevated problem-behavior scores [51].

CHOICE OF SCREENING TEST — The choice of screening test depends upon the age of the child and whether they are being screened for the first time or has been identified through developmental surveillance or screening to be at risk for developmental problems [1]. In the former situation, a first-tier screen should be used, and in the latter, a second-tier screen (table 1).

SOCIETY GUIDELINE LINKS — Links to society and government-sponsored guidelines from selected countries and regions around the world are provided separately. (See "Society guideline links: Autism spectrum disorder".)

INFORMATION FOR PATIENTS — UpToDate offers two types of patient education materials, "The Basics" and "Beyond the Basics." The Basics patient education pieces are written in plain language, at the 5th to 6th grade reading level, and they answer the four or five key questions a patient might have about a given condition. These articles are best for patients who want a general overview and who prefer short, easy-to-read materials. Beyond the Basics patient education pieces are longer, more sophisticated, and more detailed. These articles are written at the 10th to 12th grade reading level and are best for patients who want in-depth information and are comfortable with some medical jargon.

Here are the patient education articles that are relevant to this topic. We encourage you to print or email these topics to your patients. (You can also locate patient education articles on a variety of subjects by searching on "patient education" and the keyword[s] of interest.)

Basics topic (see "Patient education: Autism spectrum disorder (The Basics)")

Beyond the Basics topic (see "Patient education: Autism spectrum disorder (Beyond the Basics)")

SUMMARY

A screening instrument enables detection of conditions/concerns that may not be readily apparent without screening. Screening helps to determine whether additional investigation (eg, a diagnostic evaluation) is necessary. (See 'Overview' above.)

First-tier screening tools are used to identify all children at risk for autism spectrum disorder (ASD) from a general population. Second-tier screening tools are used to discriminate ASD from other developmental disorders in children with developmental concerns. (See 'Overview' above.)

To optimize early identification of children at risk for autism, sensitivity is more important than specificity for first-tier screens. Thus, first-tier screening tools for ASD may be positive in children with other developmental disorders (eg, language disorders, global developmental delay). (See 'Important caveats' above.)

The sensitivity and specificity of the ASD screening tools vary depending upon the age of the child and the severity of symptoms. The behavioral skills assessed to identify young children at risk for ASD (imitation, joint attention, and play) are developmentally sensitive. Older children with ASD and those who have received appropriate intervention can and do acquire these skills. (See 'Important caveats' above.)

When choosing a screening tool, it is important to know how well the tool performs (eg, the sensitivity, specificity, positive predictive value) in the population in which it will be used. Many of the screening tools for ASD have been validated in high-risk populations (ie, referral clinic, early intervention) but have not been validated in low-risk populations (eg, primary care, general population, community samples) (table 1). (See 'Important caveats' above.)

The choice of screening test depends upon the age of the child and whether they are being screened for the first time or has been identified through developmental surveillance to be at risk for developmental problems. (See 'Tools for children <3 years' above and 'Tools for preschool and school-age children' above and 'Choice of screening test' above.)

Children who screen positive for ASD should undergo a comprehensive evaluation and referral for developmental services – even before confirmation of the diagnosis. (See "Autism spectrum disorder in children and adolescents: Surveillance and screening in primary care", section on 'Management of children who screen positive'.)

Children who screen negative should continue to undergo routine developmental surveillance and screening. (See "Autism spectrum disorder in children and adolescents: Surveillance and screening in primary care", section on 'Management of children who screen negative'.)

ACKNOWLEDGMENT — The UpToDate editorial staff acknowledges Carolyn Bridgemohan, MD (deceased), who contributed to an earlier version of this topic review.

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Topic 590 Version 52.0

References

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