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Print|Back Screening tools for autism spectrum disorders Author Carolyn Bridgemohan, MD Section Editor Marilyn Augustyn, MD Deputy Editor Mary M Torchia, MD Disclosures All topics are updated as new evidence becomes available and our peer review process is complete. Literature review current through: Apr 2012. |This topic last updated: vel 27, 2012.

INTRODUCTION Autism spectrum disorders (ASD) are a group of biologically based neurodevelopmental disorders characterized by impairments in three major domains: socialization, communication, and behavior. The Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) categorizes these disorders under "pervasive developmental disorders" (PDD) [1]. These disorders include autistic disorder (classic autism, sometimes called early infantile autism, childhood autism, or Kanner's autism), childhood disintegrative disorder, Rett disorder, Asperger disorder (also called Asperger syndrome), and pervasive developmental disordernot otherwise specified (PDD-NOS), including atypical autism. Screening tools for autism will be reviewed here. The rationale for screening and management of children who have a positive screening test and the epidemiology, pathogenesis, clinical features, diagnosis, and management of autism spectrum disorders are discussed separately. (See "Surveillance and screening for autism spectrum disorders in primary care" and "Terminology, epidemiology, and pathogenesis of autism spectrum disorders" and "Clinical features of autism spectrum disorders" and "Diagnosis of autism spectrum disorders" and "Asperger disorder: Clinical features and diagnosis in children and adolescents" and "Autism spectrum disorders in children and adolescents: Overview of management".) OVERVIEW 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 developmental pediatrics is necessary [2]. 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 and behavioral screening tests in primary care", section on 'Screening tests'.) Indications Screening for autism is indicated in children with delayed language/communication milestones, in children with a regression in social or language skills, and in children whose parents raise concerns regarding autism. In addition, the American Academy of Pediatrics recommends autism-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

(aappolicy.aappublications.org/cgi/content/full/pediatrics;120/5/1183) [2]. (See "Surveillance and screening for autism spectrum disorders in primary care", section on 'Guidelines for surveillance and screening' and "Surveillance and screening for autism spectrum disorders in primary care", section on 'Early intervention'.) First-stage tools First-stage screening tools are used for primary screening: to identify children at risk for autism from a general population. First-stage screening tools for ASD in young children include: Checklist for Autism in Toddlers (CHAT) Quantitative CHAT Modified CHAT The PDD Screening Test II (PDDST-II) Stage I Social Communication Questionnaire Developmental Behaviour Checklist (DBC)-Autism Screening Algorithm and DBC-Early Screen (for children with intellectual disabilities) Australian Scale for Asperger Syndrome (for Asperger disorder) Autism Spectrum Screening Questionnaire (for Asperger disorder) Childhood Autism Syndrome Test (formerly Childhood Asperger Syndrome Test) (for Asperger disorder) Second-stage tools Second-stage screening tools are used to discriminate autism from other developmental disorders in children with developmental concerns. Second-stage screening tools are appropriate for use in children who have failed general developmental screening or an autism-specific screening test, depending upon the age of the child and level of concern. Second-stage tools are usually more time consuming and may require more expertise to administer and interpret. (See "Developmental-behavioral surveillance and screening in primary care", section on 'Failed screening test'.) Second-stage tools for ASD include: The PDD Screening Test II Stage II The Screening Tool for Autism in Two-Year-Olds

Important caveats Early identification of autism spectrum disorders (ASD) requires the use of autism-specific screening tools. General developmental screening tools are poor predictors of ASD because they assess different domains of developmental concern than autism-specific screening tools [3]. (See "Surveillance and screening for autism spectrum disorders in primary care", section on 'Screening tests'.) Limitations of current screening tools Although the currently available autism-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) [4]. 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 [5]. 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-stage screens. Thus, first-stage 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-stage screening to better characterize their developmental concern(s). However, the potential overreferral of children with positive firststage 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 autism screening tools vary depending upon the age of the child and the severity of symptoms. The behavioral skills used to identify young children at risk for autism (difficulty with imitation, joint attention, and play) are developmentally sensitive. Older children with autism and those who have received appropriate intervention can and do acquire these skills. (See "Clinical features of autism spectrum disorders".) 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). Among the tools described below, the following have been validated in a low-risk population in at least one study: CHAT [6-9] Modified CHAT [10-12] Communication and Symbolic Behavior Scales Developmental Profile Infant Toddler Checklist [13] Social Communication Questionnaire [14] Early Childhood Inventory-4 [15] Autism Spectrum Screening Questionnaire [16] Autism-Spectrum Quotient-Children's Version (AQ-Child) [17]

TOOLS FOR CHILDREN <3 YEARS Several screening tools have been developed for use in children younger than three years of age. All include screening for early social and language milestones (table 1). Screening tools for children <3 years include [2]: Checklist for Autism in Toddlers (CHAT) Quantitative Checklist for Autism in Toddlers (Q-CHAT)

Modified Checklist for Autism in Toddlers (M-CHAT) Screening Tool for Autism in Two-Year-Olds (STAT) Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist

Checklist for Autism in Toddlers The Checklist for Autism in Toddlers (CHAT) was developed for primary screening of 18-month-olds in the United Kingdom [18]. It includes 14 items related to joint attention and pretend play; nine items are reported by the parents, and five items are directly observed. Five of the items are considered critical items (two parent-report items and three observed items). These items include [6]: Gaze monitoring, which consists of turning to look in the same direction that an adult is looking in [19] (observed). Protodeclarative pointing Pointing to indicate interest rather than to ask for something (reported and observed, by asking: "Where is?" or "Show me"). Pretend play, which is defined as play involving object-substitution and/or the attribution of absent properties to objects or situations (reported and observed by asking the child to make a cup of tea, feed a doll, etc). Children who fail all five of these critical items are at severe risk for autism. Those who fail protodeclarative pointing by observation and report are at medium risk for autism [6]. As first-stage screen The CHAT was used to screen 16,235 children in the general population at approximately 18 months of age; those who failed the first screen were rescreened one month later [6]. At the six-year follow-up, 50 children with ASD were identified (using all screening and surveillance methods) from the screened population [7]. The CHAT had excellent specificity (98 percent), but sensitivity was 20 to 38 percent, depending upon whether a one- or two-stage screening protocol was followed. When administered at 18 months, the CHAT failed to detect children with mild symptoms and those with a regressive pattern of ASD. In addition, the CHAT did not discriminate well between children with global developmental delays and ASD. Sensitivity increased when the CHAT was administered at 24 months [8]. The low sensitivity of the CHAT and the need for direct observation of five items limit its usefulness as a first-stage screening tool in the primary care setting [9,20]. The high specificity of the CHAT suggests that it may be useful as a second-stage screen [9]. As second-stage screen Use of the CHAT to discriminate autism from other developmental disorders (ie, as a second-stage screen) was evaluated in a group of 44 children (two to three years of age) with identified developmental problems [21]. In this setting, using the original scoring criteria, the sensitivity and specificity of the CHAT were 65 and 100 percent, respectively. Altering the scoring criteria (the "Denver criteria") increased the sensitivity to 85 percent without changing specificity. According to the Denver criteria, medium risk is defined

by failure of pretend play and/or protodeclarative pointing by report and failure of protodeclarative pointing by observation [21]. Cross-validation of these criteria is necessary, since they were developed on the same sample under study [22]. A two-year follow-up study in which original participants were reevaluated at four to five years of age indicated high levels of stability in risk and diagnostic status [23]. Using the original CHAT criteria and the Denver criteria, the risk category at the first evaluation predicted the diagnostic classification at the second evaluation for 83 and 93 percent of the sample, respectively. Quantitative CHAT The Quantitative CHAT (Q-CHAT), a major revision of the original CHAT, is a 25-item parent-report instrument that indicates the frequency at which a child demonstrates a particular skill or behavior. This allows for a potential reduction in false positive results, as a child who only exhibits a skill (eg, pointing) infrequently can be identified. Initial studies comparing Q-CHAT scores in children with ASD and controls showed good discrimination and test-retest reliability. Validity studies are ongoing [24]. The Q-CHAT has not been validated in primary care populations. Modified CHAT The Modified CHAT (M-CHAT) was developed as a tool for primary screening for ASD (not just autism) at health supervision visits for children between 16 and 30 months of age [10]. The M-CHAT is written at the fourth- to sixth-grade reading level and is available in English and Spanish [25]. It has also been translated into many other languages, but validation for languages other than English and Spanish is not complete. It takes about five minutes to administer. The M-CHAT is copyrighted but can be downloaded (along with instructions for scoring) free of charge through the CDC's First Signs Web site (www.firstsigns.org) or at http://www2.gsu.edu/~psydlr/DianaLRobins/Official_M-CHAT_Website.html. The M-CHAT is a 23-item, yes/no parent-report questionnaire (nine questions from the CHAT and 14 questions addressing core symptoms of ASD in young children) [20]. The screen is positive if the child fails any 3 of the 23 total items or any two of six critical items. The six critical items relate to [10,20]: Taking interest in other children Using index finger to point (protodeclarative pointing) Bringing objects to show parent Imitating Responding to name Using the eyes to follow a point across the room

There have been a number of studies investigating the use of the M-CHAT in large community samples [10-12,26]. Several studies incorporating longer-term follow-up indicate a positive predictive value (PPV) of 36 percent for use of the screening tool alone [10,11,26]. The low PPV indicates a high rate of false positive screening tests (possibly due to misdiagnosis, developmental maturation, or response to treatment in the intervening years). False positive M-CHAT screens can be minimized by a follow-up interview to clarify responses (eg, presence, absence, frequency of behaviors, specific

examples). The PPV improves to 57 to 76 percent when the M-CHAT is combined with a follow-up telephone interview. The interview guide is available at http://www2.gsu.edu/~wwwpsy/robins.html. The authors of the M-CHAT suggest that if the child fails more than 10 items, the follow-up interview can be bypassed and the child referred for evaluation and intervention [27]. Positive predictive value is discussed separately. (See "Glossary of common biostatistical and epidemiological terms", section on 'Predictive values'.) The following observations have emerged in ongoing evaluation of the M-CHAT as a first-stage screen for ASD: The PPV is higher for high-risk (children in early intervention) compared with low-risk (children screened in primary care) samples [12]; this is not surprising, since PPV increases with increasing prevalence. (See "Glossary of common biostatistical and epidemiological terms", section on 'Predictive values'.) The predictive value of the M-CHAT in primary care samples appears to be better at 24 than at 18 months of age [12]. Despite the decreased PPV at 18 months in low-risk children, the benefits of early detection and a potential additional six months of early intervention support a policy of universal ASD screening at 18 months (to optimize early identification) AND 24 months (to identify children who were not identified at 18 months) [27]. The 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 [28,29]. Ultimate diagnoses among children who fail the M-CHAT (and interview, as appropriate) include ASD (50 to 70 percent), language delay, global developmental delay, and typical development [10,11,26]. Healthcare providers' concerns identify a minority of children diagnosed with ASD (only 4 of 21 children in one study [26]). Some authors have raised concern regarding the use of a screening measure that relies solely on parent report, suggesting that parents may report skills that health professionals were not able to elicit, leading to falsely negative screens [21,30]. Although the M-CHAT appears to be a promising tool and is available for clinical and research use, it should be used with caution, particularly when not followed by a structured interview [11,22,26]. The current scoring system is designed to maximize sensitivity, which results in a number of false positives. Once cross-validation is complete, the scoring may be revised [22,31]. Screening Tool for Autism in Two-Year-Olds The Screening Tool for Autism in Two-Year-Olds (STAT) is an interactive measure that can be used for second-stage screening in children age 24 to 36 months [32,33]. It is designed to discriminate between autism and other developmental disorders and is less likely to accurately identify children with other ASD such as PDD-NOS. The STAT is not practical for use in the context of well-child visits but is an alternative for secondstage screening. It consists of a 20-minute-long play-based session during which 12 activities in 4 domains are observed: play (two activities), requesting (two activities), directing attention (four activities), and motor imitation (four activities) [33]. Language comprehension is not required. [22].

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-G as the gold-standard test for autism [33]. 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. It is available at www.firstsigns.org and at firstwords.fsu.edu/index.php/early-identification-of-communication-delays/26-csbschecklist. The ITC has a sensitivity and specificity of 88.9 percent for identifying toddlers with ASD or other developmental delays [34]. 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 social composite. In a study screening 5385 children from a general population, the ITC identified 56 of 60 (93 percent) of children ultimately diagnosed with ASD [34]. The ITC had a positive predictive value (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 [13]. 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. TOOLS FOR PRESCHOOL AND SCHOOL-AGE 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. (See "Diagnosis of autism spectrum disorders", section on 'Diagnostic tools'.) The SCQ was developed for use in preschool and school-age children; validation in younger children is in process [35,36]. The SCQ is a parent-report screen comprised 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 [37]. The SCQ can be ordered through Western Psychological Services (www.wpspublish.com). The SCQ was validated in a sample of 200 patients ages 4 to 40 years whose parents had previously completed the ADI-R; 160 patients had ASD according to the ADI-R [35]. 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. The SCQ was not well able to discriminate autism from other ASD. However, this level of discrimination is less important for first-stage screening. 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 [37]. The SCQ missed some children with milder phenotypes and higher IQs. Lowering the cut-off score to 11 improves sensitivity but lowers specificity. Different cut-off scores may be needed for verbal and non-verbal individuals, since several items related to verbal language are not included in the final score for non-verbal individuals. In the validation study [35], the authors concluded that a cut-off score of 15 could be used for verbal and non-verbal 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 (parents leaving a question blank) [38]. 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 non-verbal children) [37]. 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), and 1.5 percent scored above the autism cut-off (22) [14]. Among those who scored above the ASD cutoff, 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-stage screen. Developmental Behaviour Checklist for Pediatrics The Developmental Behaviour Checklist for Pediatrics (DBC-P) is a 96-item parent-report tool used to assess behavioral and emotional disturbance in 4- to 18-year-old individuals with intellectual disability. An adaptation of the DBC-P, the Developmental Behaviour Checklist - Autism Screening Algorithm (DBC-ASA), is composed of 29 items from the original DBC-P [39]. 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. The DBC-ASA may be falsely positive in children with significant behavior problems [40]. Another adaptation of the DBC-P, the DBC-Early Screen, uses 17 items from the original checklist to screen for autism in developmentally delayed children 18 to 48 months of age [41]. With a cut-off score of 10.5, the DBC-Early Screen 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 referred for developmental evaluation indicated high sensitivity but lower specificity for the original 17-item screener, as well as a five-item version [42].

TOOLS FOR ASPERGER DISORDER AND HIGH-FUNCTIONING AUTISM Several tools have been described to screen for Asperger syndrome and high-functioning autism (a term used for individuals with autism who have normal cognitive abilities). The clinical features and diagnosis of Asperger disorder are discussed separately. (See "Asperger disorder: Clinical features and diagnosis in children and adolescents" and "Asperger disorder: Management and prognosis in children and adolescents".) Childhood Autism Syndrome Test The Childhood Autism Syndrome Test (CAST, formerly known as the Childhood Asperger Syndrome Test) is a 37-item parent-completed questionnaire designed for use in children aged 4 to 11 years [43]. It is available through the Autism Research Center (www.autismresearchcentre.com/tests/cast_test.asp). The CAST was evaluated as a first-stage screening tool in 1925 school children [44]. The accuracy varied with the case definition; the authors concluded that the CAST was a useful screen for ASDs in epidemiologic research but that more information was needed before it could be recommended for routine screening in the general population. Additional data collection is ongoing [45-47]. The CAST has been distributed to 11,635 school children and returned by approximately one-third. Median scores were slightly but significantly higher in boys than girls (5 versus 4) and more boys than girls scored 15 (79 versus 21 percent) [47]. These observations suggest that differences in the social and communication skills of boys and girls must be taken into consideration when measuring these skills in the general population. 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 ASD) in the clinical setting [48]. 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 parents or teachers. The ASSQ takes 10 minutes to complete. The authors provide a receiver operating characteristic (ROC) 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 parent 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, a parent 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. When validated in a general population sample of 9430 seven- to nine-year-old children, a cut-off score of 17 (combined parent and teacher ratings) provided a sensitivity of 91 percent and specificity of 86 percent [16]

Autism-Spectrum Quotient The Autism-Spectrum Quotient (AQ) is a self-administered questionnaire for adults with normal intelligence [49]. The AQ consists of 50 questions assessing social skills, attention, communication, and imagination. It is available through the Autism Research Center (www.autismresearchcentre.com/tests/default.asp). In a comparative study, the AQ successfully discriminated individuals with Asperger disorder or highfunctioning autism from randomly selected controls [49]. 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-Child The Autism-Spectrum Quotient-Children's Version (AQ-Child) is a parent-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 [17]. Further studies are ongoing. COMPARISON STUDIES Several studies have directly compared screening tools in specific populations: A study that examined multiple screening tools including the SCQ, Infant-Toddler Checklist, and key items from the CHAT in a population of 238 high-risk children (clinician concern or positive first-stage screen) found that none of the instruments adequately discriminate ASD from non-ASD [50]. In a study comparing the 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 [51]. In a study investigating the validity of identifying ASD in a sample of 49 children with intellectual disability, the 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 [40]. CHOICE OF SCREENING TEST The choice of screening test depends upon the age of the child and whether he or she is being screened for the first time or has been identified through developmental surveillance or screening to be at risk for developmental problems [2]. In the former situation, a first-stage screen should be used, and in the latter, a second-stage screen (table 2). 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 5 to 6 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 10 to 12 grade reading level and are best for patients who want in-depth information and are comfortable with some medical jargon.
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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 info and the keyword(s) of interest.) Beyond the Basics topics (see "Patient information: Autism spectrum disorders (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-stage screening tools are used for primary screening: to identify all children at risk for autism from a general population. Second-stage screening tools are used to discriminate autism from other developmental disorders in children with developmental concerns. (See 'Overview' above.) Several autism-specific screening tools have been developed for use in children younger than three years of age. These include (see 'Tools for children <3 years' above): Checklist for Autism in Toddlers (CHAT) Quantitative Checklist for Autism in Toddlers (Q-CHAT) Modified Checklist for Autism in Toddlers (M-CHAT) Communication and Symbolic Behavior Scales Developmental Profile Infant Toddler Checklist (CSBS-DP-IT) Screening Tool for Autism in Two-Year-Olds (STAT) Important characteristics of these tools are summarized in the table (table 2). Screening tools for Asperger disorder and high-functioning autism include the Childhood Autism Syndrome Test (CAST), the Autism Spectrum Screening Questionnaire, and the Autism-Spectrum Quotient-Childrens Version (AQ-Child). (See 'Tools for Asperger disorder and high-functioning autism' above.) The choice of screening test depends upon the age of the child and whether he or she is being screened for the first time or has been identified through developmental surveillance to be at risk for developmental problems. (See 'Choice of screening test' above.) Use of UpToDate is subject to the Subscription and License Agreement. REFERENCES 1. American Psychiatric Association. Pervasive Developmental Disorders. In: Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR)., American Psychiatric Association, Washington, DC p.70. 2. Johnson CP, Myers SM, American Academy of Pediatrics Council on Children With Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics 2007; 120:1183. 3. Pinto-Martin JA, Young LM, Mandell DS, et al. Screening strategies for autism spectrum disorders in pediatric primary care. J Dev Behav Pediatr 2008; 29:345.

4. Zwaigenbaum L, Bryson S, Lord C, et al. Clinical assessment and management of toddlers with suspected autism spectrum disorder: insights from studies of high-risk infants. Pediatrics 2009; 123:1383. 5. Kleinman JM, Ventola PE, Pandey J, et al. Diagnostic stability in very young children with autism spectrum disorders. J Autism Dev Disord 2008; 38:606. 6. Baron-Cohen S, Cox A, Baird G, et al. Psychological markers in the detection of autism in infancy in a large population. Br J Psychiatry 1996; 168:158. 7. Baird G, Charman T, Baron-Cohen S, et al. A screening instrument for autism at 18 months of age: a 6-year follow-up study. J Am Acad Child Adolesc Psychiatry 2000; 39:694. 8. Charman T, Baron-Cohen S, Baird G, et al. Is 18 months too early for the chat? J Am Acad Child Adolesc Psychiatry 2002; 41:235. 9. Mawle E, Griffiths P. Screening for autism in pre-school children in primary care: systematic review of English Language tools. Int J Nurs Stud 2006; 43:623. 10. Robins DL, Fein D, Barton ML, Green JA. The Modified Checklist for Autism in Toddlers: an initial study investigating the early detection of autism and pervasive developmental disorders. J Autism Dev Disord 2001; 31:131. 11. Kleinman JM, Robins DL, Ventola PE, et al. The modified checklist for autism in toddlers: a follow-up study investigating the early detection of autism spectrum disorders. J Autism Dev Disord 2008; 38:827. 12. Pandey J, Verbalis A, Robins DL, et al. Screening for autism in older and younger toddlers with the Modified Checklist for Autism in Toddlers. Autism 2008; 12:513. 13. Pierce K, Carter C, Weinfeld M, et al. Detecting, studying, and treating autism early: the one-year wellbaby check-up approach. J Pediatr 2011; 159:458. 14. Chandler S, Charman T, Baird G, et al. Validation of the social communication questionnaire in a population cohort of children with autism spectrum disorders. J Am Acad Child Adolesc Psychiatry 2007; 46:1324. 15. DeVincent C, Gadow KD, Strong G, et al. Screening for autism spectrum disorder with the Early Childhood Inventory-4. J Dev Behav Pediatr 2008; 29:1. 16. Posserud MB, Lundervold AJ, Gillberg C. Validation of the autism spectrum screening questionnaire in a total population sample. J Autism Dev Disord 2009; 39:126. 17. Auyeung B, Baron-Cohen S, Wheelwright S, Allison C. The Autism Spectrum Quotient: Children's Version (AQ-Child). J Autism Dev Disord 2008; 38:1230. 18. Baron-Cohen S, Allen J, Gillberg C. Can autism be detected at 18 months? The needle, the haystack, and the CHAT. Br J Psychiatry 1992; 161:839. 19. Scaife M, Bruner JS. The capacity for joint visual attention in the infant. Nature 1975; 253:265. 20. Dumont-Mathieu T, Fein D. Screening for autism in young children: The Modified Checklist for Autism in Toddlers (M-CHAT) and other measures. Ment Retard Dev Disabil Res Rev 2005; 11:253. 21. Scambler D, Rogers SJ, Wehner EA. Can the checklist for autism in toddlers differentiate young children with autism from those with developmental delays? J Am Acad Child Adolesc Psychiatry 2001; 40:1457. 22. Robins DL, Dumont-Mathieu TM. Early screening for autism spectrum disorders: update on the modified checklist for autism in toddlers and other measures. J Dev Behav Pediatr 2006; 27:S111. 23. Scambler DJ, Hepburn SL, Rogers SJ. A two-year follow-up on risk status identified by the checklist for autism in toddlers. J Dev Behav Pediatr 2006; 27:S104. 24. Allison C, Baron-Cohen S, Wheelwright S, et al. The Q-CHAT (Quantitative CHecklist for Autism in Toddlers): a normally distributed quantitative measure of autistic traits at 18-24 months of age: preliminary report. J Autism Dev Disord 2008; 38:1414. 25. Glascoe, FP. Collaborating with Parents. Ellsworth & Vandermeer Press, Ltd, Nashville, TN, 1998. 26. Robins DL. Screening for autism spectrum disorders in primary care settings. Autism 2008; 12:537. 27. Robins, DL, Dumont-Mathieu, T, Fein, D. Use of the modified checklist for autism in toddlers in general pediatric settings. Developmental and Behavioral News 2009; 18:4. 28. Kuban KC, O'Shea TM, Allred EN, et al. Positive screening on the Modified Checklist for Autism in Toddlers (M-CHAT) in extremely low gestational age newborns. J Pediatr 2009; 154:535. 29. Johnson S, Marlow N. Positive screening results on the modified checklist for autism in toddlers: implications for very preterm populations. J Pediatr 2009; 154:478. 30. Charman T, Baron-Cohen I, Baird G, et al. Commentary: The Modified Checklist for Autism in Toddlers. J Autism Dev Disord 2001; 31:145. 31. Robins, DL, Fein, D, Barton, ML, Green, JA. Modified Checklist for Autism in Toddlers (M-CHAT). Available at: www.firstsigns.org/downloads/m-chat_scoring.PDF. (Accessed January 11, 2008).

32. Stone WL, Coonrod EE, Ousley OY. Brief report: screening tool for autism in two-year-olds (STAT): development and preliminary data. J Autism Dev Disord 2000; 30:607. 33. Stone WL, Coonrod EE, Turner LM, Pozdol SL. Psychometric properties of the STAT for early autism screening. J Autism Dev Disord 2004; 34:691. 34. Wetherby AM, Brosnan-Maddox S, Peace V, Newton L. Validation of the Infant-Toddler Checklist as a broadband screener for autism spectrum disorders from 9 to 24 months of age. Autism 2008; 12:487. 35. Berument SK, Rutter M, Lord C, et al. Autism screening questionnaire: diagnostic validity. Br J Psychiatry 1999; 175:444. 36. Rutter, M, Bailey, A, Lord, C, et al. The Social Communication Questionnaire (SCQ) Manual, Western Psychological Services, Los Angeles, CA, 2003. 37. Eaves LC, Wingert HD, Ho HH, Mickelson EC. Screening for autism spectrum disorders with the social communication questionnaire. J Dev Behav Pediatr 2006; 27:S95. 38. Eaves LC, Wingert H, Ho HH. Screening for autism: agreement with diagnosis. Autism 2006; 10:229. 39. Brereton AV, Tonge BJ, Mackinnon AJ, Einfeld SL. Screening young people for autism with the developmental behavior checklist. J Am Acad Child Adolesc Psychiatry 2002; 41:1369. 40. Witwer AN, Lecavalier L. Autism screening tools: an evaluation of the Social Communication Questionnaire and the Developmental Behaviour Checklist-Autism Screening Algorithm. J Intellect Dev Disabil 2007; 32:179. 41. Gray KM, Tonge BJ. Screening for autism in infants and preschool children with developmental delay. Aust N Z J Psychiatry 2005; 39:378. 42. Gray KM, Tonge BJ, Sweeney DJ, Einfeld SL. Screening for autism in young children with developmental delay: an evaluation of the developmental behaviour checklist: early screen. J Autism Dev Disord 2008; 38:1003. 43. Scott FJ, Baron-Cohen S, Bolton P, Brayne C. The CAST (Childhood Asperger Syndrome Test): preliminary development of a UK screen for mainstream primary-school-age children. Autism 2002; 6:9. 44. Williams J, Scott F, Stott C, et al. The CAST (Childhood Asperger Syndrome Test): test accuracy. Autism 2005; 9:45. 45. Williams J, Allison C, Scott F, et al. The Childhood Asperger Syndrome Test (CAST): test-retest reliability. Autism 2006; 10:415. 46. Allison C, Williams J, Scott F, et al. The Childhood Asperger Syndrome Test (CAST): test-retest reliability in a high scoring sample. Autism 2007; 11:173. 47. Williams JG, Allison C, Scott FJ, et al. The Childhood Autism Spectrum Test (CAST): sex differences. J Autism Dev Disord 2008; 38:1731. 48. Ehlers S, Gillberg C, Wing L. A screening questionnaire for Asperger syndrome and other highfunctioning autism spectrum disorders in school age children. J Autism Dev Disord 1999; 29:129. 49. Baron-Cohen S, Wheelwright S, Skinner R, et al. The autism-spectrum quotient (AQ): evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians. J Autism Dev Disord 2001; 31:5. 50. Oosterling IJ, Swinkels SH, van der Gaag RJ, et al. Comparative analysis of three screening instruments for autism spectrum disorder in toddlers at high risk. J Autism Dev Disord 2009; 39:897. 51. Snow AV, Lecavalier L. Sensitivity and specificity of the Modified Checklist for Autism in Toddlers and the Social Communication Questionnaire in preschoolers suspected of having pervasive developmental disorders. Autism 2008; 12:627. Topic 590 Version 11.0

Early signs of autism

Gaze
Lack of appropriate gaze Lack of warm, joyful expressions with gaze

Receptive language
Lack of recognition of mother's, father's, or consistent caregiver's voice Lack of response to name Increased awareness of environmental sounds Lack of interest in or response to comments made by others

Expressive language
Lack of to-and-fro pattern of vocalization that typically occurs by about 6 months of age Delayed onset of babbling (after 9 months of age) Lack of expressions such as "oh-oh" or "huh"

Pre-speech gestures
Decreased or absent use of pre-speech gestures, such as waving, pointing, showing

Autism-specific screening tools for young children

To ol
CHA T

Age
1824 mont hs

Description
9 parent-report items 5 observed items

Sensitivity/spe cificity
Sensitivity: 20 to 38 percent Specificity: 98 percent

Validati on
>16,000 children in the communit y

Comme nt
Validated as firststage screen, but may be more useful as a secondstage screen. Validated as firststage screen. Failed screen is followed by structured interview before referral for diagnostic evaluation. (See text for details).

MCHA T

1630 mont hs

23 parent-report items Takes approximately 5 minutes to administer Available in English, Spanish, and other languages (see http://www2.gsu.edu/~psydlr/Diana_L._Ro bins,_Ph.D..html)

Sensitivity: 85 percent Specificity: 93 percent Positive predictive value 57 to 76 percent when followed by structured interview (approximately 60 percent when used as first-stage screen)

>5000 children in primary care practices

STA T

2436 mont hs

12 observed activities during 20-minute play session Requires training for administration and scoring

Sensitivity: 92 percent Specificity: 85 percent

52 children with ASD and other developm ental disorders

Not suitable for well-child screening, but is an alternative for secondstage screening. Language comprehe nsion is not required. Requires training for administrat ion and scoring; not suitable for primary care practice.

CSB CDP-

6-24 mont hs

24-item questionnaire

Positive predictive value: 75 percent

10,479 infants screened

The CSBC-DPITC is a

ITC

at 1-year health supervisio n visit

broadband screen for communic ation delays.

CHAT: Checklist for Autism in Toddlers; M-CHAT: Modified CHAT; STAT: Screening Tool for Autism in Two-Year-Olds; SCQ: Social Communication Questionnaire (formerly the Autism Screening Questionnaire); CSBC-DP-ITC: Communication and Symbolic Behavior Scales Developmental Profile Infant Toddler Checklist.
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