“What's the scoop with our autism screening?” a concerned mother asked the nurse upon realizing that the autism spectrum disorder (ASD) screening questionnaire she had completed wasn't addressed during her daughter's well-child visit. (This case scenario is a composite based on our experience.) The nurse brought the mother's concern to the primary care provider, who replied, “Don't worry, I only look at screenings if I think there's a problem. I can spot autism during a patient visit.”
While the literature refutes the primary care provider's assumption, it is not uncommon for parents and nurses to witness similar practices on the part of primary care providers and to find incomplete, unscored ASD screenings across clinical settings, revealing unanswered questions and potential health inequities.
The American Academy of Pediatrics (AAP) has recommended universal developmental screening of infants since 2001 and expanded this recommendation in 2016 to include ASD-specific screening.1 However, a cross-sectional analysis of the 2016 National Survey of Children's Health, an initiative of the Health Resources and Services Administration, found that only 30.4% of infants ages nine to 35 months received a parent-completed developmental screening and only 37.1% received developmental surveillance in which the parent or caregiver reports to the health care provider any developmental concerns about the child.1
Nurses can become the change agents that interrupt this pattern by educating and supporting their patients' families, community members, and other members of their health care teams regarding the importance of early ASD detection and treatment. While the Centers for Disease Control and Prevention advises caregivers to bring any ASD-related concerns about their child to the child's primary care provider,2 the first health care provider a parent and child are likely to encounter is a nurse; and since the prevalence of ASD has increased over the past several years, nurses can expect to see increasing numbers of patients with ASD.3 Across all areas of clinical practice, academics, and policy, nurses empowered with the knowledge of ASD risk factors, signs, and current best practices for screening and early intervention may refer caregivers to appropriate help before valuable treatment time is lost. This article summarizes what is known about ASD epidemiology, describes recent advances in ASD screening and diagnosis, and discusses how nurses can advocate for early identification of ASD as well as early, appropriate intervention.
EPIDEMIOLOGY OF ASD
ASD is a neurodevelopmental disorder characterized by impaired social communication; diminished social interactions; unusual responses to sensory stimuli; and restrictive or repetitive behaviors, interests, or activities.4 Along the autism spectrum, both abilities and effects vary widely. Regardless of where a child falls on the spectrum, early intervention yields the best outcomes.2
ASD reportedly affects 1% to 2% of the world's population. In the United States, the incidence of ASD has steadily increased, with one in 54 children affected in the most recent epidemiological reports.5
Sex differences in ASD diagnoses. ASD occurs within all ethnic, racial, and socioeconomic groups, though diagnosis is four times more common in boys than girls. It's been suggested, however, that this disparity in ASD prevalence may result from a “camouflage effect” in which girls with ASD are better able than boys with ASD to conceal social impairments on performance-based measures, resulting in an underdiagnosis of ASD in girls.6
From four different ASD clinical and research sites in the United States, researchers identified an initial sample of 816 school-age children who had intelligence quotient (IQ) scores above 70 and had been diagnosed with ASD by a trained clinician on the basis of gold standard diagnostic measures and criteria outlined in the Diagnostic and Statistical Manual of Mental Disorders, fourth and fifth (DSM-5) editions.6 Parent reports of autistic traits and adaptive skills had been collected for all the children. From the initial sample, the researchers assembled a final age- and IQ-matched sample of 114 girls and 114 boys. Data analysis revealed no significant sex differences in ASD diagnostic data, indicating similar levels of autistic traits among the boys and the girls. However, parent-reported measures of adaptive behavior and social functioning in real-world settings indicated that the girls were more severely affected than the boys, suggesting that in order to meet the ASD diagnostic criteria, the girls may have had to demonstrate a greater degree of autistic traits.
Adding to this research, a multisite integrative analysis of sex differences in scoring on gold standard measures of autism recently published by Kaat and colleagues provides perspective on potential sex differences in autism and autism diagnoses.7 The study, which combined several databases to create the largest sample to date of girls with ASD diagnoses, found few sex-related differences beyond known ASD severity indicators. After taking into account age, nonverbal IQ, and language level, boys' scores, as determined by both parent report and direct observation, indicated more severe ASD manifestation than girls' scores in the area of restricted and repetitive behaviors, a finding that is consistent with previously published reports. In terms of social responsiveness during adolescence, however, girls' scores indicated more severe deficits, a finding that contradicts previously published reports in which girls were determined to have fewer deficits in this area. According to the investigators, this may suggest that parents have higher social expectations of girls than boys.
Although these findings suggest sex-specific ASD scoring may not be necessary, the investigators note that previous sex-based comparisons of scores on standardized ASD screening tools have produced inconsistent results, possibly due to the small sample sizes in these studies and the fact that girls constitute only about 20% of all pediatric ASD diagnoses. They note, however, that in some girls and women ASD may manifest differently than in men and boys and stress that future research should explore potential sex differences in ASD diagnoses.
IMPORTANCE OF EARLY INTERVENTION
Although it is never too late for ASD intervention, in order to achieve optimal individual developmental trajectories, ASD-specific treatment should begin as early as possible—ideally, before the age of two, which is a period of tremendous neuroplasticity and accelerated brain growth.8 While ASD can be reliably diagnosed by age two, most children are not diagnosed until after age four,9 radically reducing the period during which intervention may be most effective.
The economic burden of delayed intervention. A 2014 literature review estimated that ASD represented a substantial aggregated annual economic burden in the United States of $61 billion to $66 billion for children and $175 billion to $196 billion for adults, depending on whether assumed prevalence of intellectual disability is 40% or 60%, respectively.10 This significant economic burden represents multiple associated costs. For children with ASD, these include medical care, special education, and lost parental productivity; for adults with ASD, they include residential accommodation, medical care, and productivity loss. Early intervention is projected to improve long-term health outcomes and thereby substantially reduce lifetime costs associated with ASD.11 Children with ASD who receive early intervention are more likely to have fewer symptoms, incur fewer health care costs, enroll in mainstream educational programs, and enjoy greater employment opportunities than those who do not.
SCREENING FOR ASD
Research suggests that both genetic and environmental factors contribute to the development of ASD. Known risk factors for ASD include having any of the following:
- a sibling with ASD2
- older parents2
- neonatal complications, including low birth weight,12 birth injury,12 or preterm birth13
Developmental screening. The AAP recommends that clinicians perform developmental screening using a validated tool during well-child visits conducted at nine, 18, and 24 or 30 months of age, noting any subtle red flags in infants who have a sibling with ASD.
ASD-specific screening. The AAP further recommends that clinicians perform ASD-specific screening using a validated tool at both 18- and 24-month well-child visits and at any subsequent visit in which concerns about ASD are raised.14, 15 Single-point screening prior to age two often fails to identify a subpopulation of children with ASD who appear to achieve normal development before regressing and demonstrating symptoms of ASD at around 20 months of age.16
REFERRAL FOR EVALUATION AND INTERVENTION
Nurses should ensure patients are evaluated for ASD when
- primary care provider or parent concerns remain after a negative screen.
- there are two or more ASD risk factors.
- a screen is positive.
In such cases, referral for formal ASD evaluation (to be completed by a developmental pediatrician, child neurologist, child psychologist or psychiatrist) is highly recommended, as is early intervention if deemed appropriate.15 Both developmental and ASD-specific screening combined with surveillance promote early ASD diagnosis,17 increasing the likelihood of appropriate intervention.
Nurses can simultaneously direct families to early intervention services in their state to request a free evaluation, which requires neither a provider referral nor a medical diagnosis.
- Parents of children under age three should contact their local early intervention services (see state-specific contact information at https://ectacenter.org/contact/619coord.asp).
- Parents of children ages three years or older should contact their local public school.
SCREENING AND SURVEILLANCE IN THE UNITED STATES
Overall, U.S. rates of developmental screening and surveillance are low. There is, however, considerable variation among states, with more than a 40% difference between the two states with the lowest and highest rates: Mississippi (with a 17.2% screening rate and a 19.1% surveillance rate) and Oregon (with a 58.8% screening rate and a 60.8% surveillance rate).1
States can dramatically improve developmental screening and surveillance rates, however, as Oregon has demonstrated. In 2007, Oregon had one of the lowest rates of developmental screening in the country. Since that time, it has achieved the nation's highest rates of developmental surveillance and screening, nearly doubling the national average in both categories. It has been suggested that Oregon's success may be due to tracking and incentivizing quality improvement through performance incentives.1
Common barriers to improving access to early ASD screening, diagnosis, and intervention include18
- inefficient systems of care (educational, health, and social services systems, as well as intersystem communication).
- difficulty engaging families.
- provider attitudes (based on time limitations, little access to diagnostic and treatment services, or long wait times).
- organizational culture (specifically, unwillingness to adopt new innovations).
To read about the role of electronic tools in reducing barriers to screening, see How Electronic Capability Affects Screening Rates.
Demographic factors. In addition to regional differences, some demographic characteristics, including primary household language, family structure, highest household educational level, household income, past-year preventive visit, child's special health care needs, and having a medical home were significantly associated with whether developmental screening was performed.1 However, the only demographic characteristic significantly associated with receiving both developmental screening and surveillance was having at least three components of a medical home,1 which the AAP defines as an approach to providing care that may be characterized as accessible, family centered, continuous, comprehensive, coordinated, compassionate, and culturally effective.19
In their cross-sectional analysis, Hirai and colleagues found that the aspects of a medical home most strongly associated with developmental screening were a usual source of care (accessibility), a personal physician or nurse (continuity), and family-centered care (in which all medical decisions are made in partnership with the family).1
Unfortunately, many children with ASD do not receive family-centered, coordinated care. In a 2014 survey of 371 parents or caregivers of children with ASD, fewer than one-third of respondents reported that their child received coordinated care and fewer than half reported that their child received family-centered care.20
ASD SCREENING INSTRUMENTS
In 2016, 81% of pediatricians reported using a formal screening tool to detect ASD; most often, it was the Modified Checklist for Autism in Toddlers (M-CHAT).21 A later revision, known as the Modified Checklist for Autism in Toddlers, Revised with Follow Up Interview (M-CHAT-R/F), was validated for use in children ages 16 to 30 months.22 The M-CHAT-R/F with scoring instructions is available for download at no cost (see https://mchatscreen.com) and the M-CHAT may be taken online for free (see https://m-chat.org).
ASD risk, as determined by scoring, and with appropriate follow-up, is outlined below22, 23:
- Scores of 0 to 2: Low risk; no further action is required unless other risk factors are present.
- Scores of 3 to 7: Moderate risk; a follow-up interview must be performed to clarify all at-risk responses. If the final score is greater than 3, referral is indicated.
- Scores of 8 or higher: High risk; refer the child for immediate diagnostic evaluation and early intervention.
Other potentially useful ASD screening instruments include the Infant-Toddler Checklist (ITC), the Social Communication Questionnaire (SCQ), and the Screening Tool for Autism in Toddlers and Young Children (STAT).
The ITC is a component of the Communication and Symbolic Behavior Scales Developmental Profile, a 24-item parent questionnaire validated for use on infants and toddlers ages nine to 24 months.24 In a feasibility study in which 10,479 infants were screened using the ITC at the 12-month well-child visit, the tool showed promise in detecting ASD, as well as language delay and developmental delay.25 The ITC questionnaire and scoring instructions are available for download at no cost (see https://brookespublishing.com/wp-content/uploads/2012/06/csbs-dp-itc.pdf).
The SCQ, formerly known as the Autism Screening Questionnaire,26, 27 is a 40-item caregiver questionnaire based on the much longer Autism Diagnostic Interview–Revised (ADI-R),27, 28 described below. The SCQ may be used to screen patients ages four years and older.27 It comes in two forms—“Lifetime” or “Current”; Lifetime is based on a person's entire developmental history, whereas Current focuses on behavior over the past three months.29 The SCQ may be purchased online at www.wpspublish.com/store/p/2954/scq-social-communication-questionnaire or www.parinc.com/Products/Pkey/393.
STAT, originally known as the Screening Tool for Autism in Two-Year-Olds, was developed for children who are in referral settings and between the ages of 24 and 35 months. It is administered by a trained professional.30, 31 The tool may be purchased online at http://stat.vueinnovations.com/about.
PROBLEMS WITH REAL-WORLD SCREENING
In a data analysis of 18- and 24-month pediatric visits made by 36,233 children between 2013 and 2016, in which the M-CHAT was used to screen for ASD, only 10 of the 20 practices followed the recommended scoring guidelines and only one typically administered the follow-up interview intended to reduce false positives.32 Nearly 73% of the children included in the analysis were screened at one of those visits and more than 54% were screened twice. Hispanic children were less likely to be screened than the children of all the other ethnic groups included (non-Hispanic white, non-Hispanic Black, and Asian or Pacific Islander). Furthermore, the researchers found many false negatives in this analysis, suggesting that children should continue to be closely monitored for signs of ASD even after receiving a negative screen and rescreened as needed. The investigators stress the importance of administering ASD screening tools as intended, and of promptly referring at-risk children for evaluation and intervention.
Contrary to popular belief, ASD can be neither diagnosed nor excluded through having a simple exchange with a child. At the very least, an ASD evaluation should be made and consider the child's
- developmental history and current developmental level.
- functional language abilities (not speech articulation).
- functional social communication.
- functional play.
- presence or absence of sensory issues.
- presence or absence of repetitive behaviors, interests, or activities.
The DSM-5 criteria for ASD (see DSM-5 Diagnostic Criteria for ASD4) can act as a scaffold for the diagnostic evaluation, though the AAP recommends standardized, validated diagnostic instruments to quantify the clinical diagnosis.14, 33
Such standardized diagnostic tools might include the Autism Diagnostic Observation Schedule, second edition (ADOS-2), the ADI-R, and the Childhood Autism Rating Scale, second edition (CARS-2).
The ADOS-2 is a behavioral observation instrument that consists of five modules. The Toddler Module provides ranges of concern for children ages 12 to 30 months, while Modules 1 through 4 provide cutoff scores for diagnoses of autism and ASD classifications for those ages 30 months through adulthood, based on comparisons with same-age peers. The ADOS-2 may be purchased online at www.wpspublish.com/ados-2-autism-diagnostic-observation-schedule-second-edition.
The ADI-R28 is a modified version of the Autism Diagnostic Interview, which had been developed in 1989 primarily for use in research.34 The ADI-R contains 93 items that focus on three domains: language and communication; reciprocal social interactions; and restricted, repetitive, stereotyped behaviors or interests. The ADI-R may be purchased online at www.wpspublish.com/adi-r-autism-diagnostic-interview-revised. Combined, the ADOS and the ADI-R are considered the gold standard for data collection used in ASD research.35
CARS-2, a diagnostic instrument based on history and direct observation, is available in two forms: the standard version, CARS-2-ST, which, like the first edition, is designed for use with children ages two through six years, or older than six with an estimated IQ below 80; and the high-functioning version, CARS-2-HF, designed for use with verbally fluent people ages six and older who have IQ scores above 80. Both may be purchased online at www.wpspublish.com/cars-2-childhood-autism-rating-scale-second-edition.
The AAP has published a series of recommendations for ASD practice and research,33, 36-38 and ASD diagnostic instruments have been extensively reviewed.39, 40
PROMOTING SAFETY IN CHILDREN WITH ASD
Anderson and colleagues surveyed parents in the Interactive Autism Network who had a child with ASD between the ages of four and 17 years about wandering behavior in their children.41 A total of 1,367 families completed the survey; the study sample included 1,218 children with ASD and 1,076 of their siblings without ASD. Survey results indicated that 49% of respondents reported at least one attempt by their children over age four to wander away from safe areas. From ages four through seven, 46% of the children with ASD had wandered off compared with 11% of the siblings without ASD, and from ages eight through 11, 27% of the children with ASD had wandered off compared with 1% of the siblings without ASD.
Nearly one-third of reported ASD wandering cases in the United States are either fatal or require medical attention, with the majority of deaths attributed to accidental drowning, followed by traffic injury. Wandering may be an attempt to explore or to depart from unpleasant stimuli. For children under age five, wandering ends in death 58% of the time.42
Nurses can thoughtfully guide families toward accident prevention by encouraging close supervision of children with suspected ASD and teaching families to take the following precautions:
- Use fencing barriers, safety locking car seats, identification bracelets, Global Positioning System tracking devices, temporary tattoos, and window and door alarms (at home and when traveling).
- Enroll children in water safety classes early.
- Ensure all potentially hazardous materials are inaccessible.
Nursing action is needed to address critical safety issues concerning this growing population.
Awareness of evidence-based recommendations for ASD screening can help nurses advocate for patients with ASD, ensuring that ASD is identified early so that appropriate intervention is initiated. Despite the growing prevalence of ASD and its lifelong consequences, nursing faculty are often uncomfortable teaching nursing students about ASD screening and intervention. A survey of faculty in associate's degree, baccalaureate, or accelerated RN programs found that fewer than 5% of the 295 respondents described their knowledge of ASD as at the expert level, 33% felt they had “good” knowledge of ASD, 20% reported they were not very knowledgeable in this area, and 75% reported having “very low” or “only some” knowledge of best practices for nursing care of this patient population.43 Nursing faculty are challenged to incorporate ASD course content and their own clinical experiences with ASD into nursing curricula and to call attention to the health care inequities affected patients often face.
It's important that nurses not dismiss any parental concerns related to child development that could be attributed to ASD. Parental reports of unusual behaviors have been found to be significant predictors of later ASD diagnosis.44 Nurses should also be aware that denial and grief may deter parental reporting of ASD concerns or diagnostic pursuit. Race, too, can influence such parental reporting. In a study of parental reports of developmental concerns, Black parents reported significantly fewer ASD concerns than white parents—specifically, social concerns related to social interest, attention, play, and reciprocity and concerns related to restricted and repetitive behavior.45 Race did not, however, affect the number of non-ASD concerns that parents reported, such as those related to motor difficulties, temperament, medical conditions, general development, feeding, or disruptive behavior. The investigators suggest that one possible factor in this disparity may be knowledge of and access to information about ASD. These findings support the need for consistent ASD screening and developmental surveillance for all children, especially those at high risk for ASD, as well as the need for all clinicians to be familiar with the absolute indications for diagnostic referral, regardless of ASD risk or screening status (see Table 115, 46).
Table 1. -
Absolute Indications for ASD Diagnostic Evaluation Referral15,46
||Referral Time Frame
|No gesturing (waving bye-bye and pointing)
||By 12 months
||By 12 months
|No single words (excluding echolalia or labeling)
||By 16 months
|No spontaneous two-word phrases (excluding echolalia)
||By 24 months
|Any loss of language or social skills (regression)
Nurses can promote early consideration of ASD risk by
- learning to recognize the risk factors for and early signs of ASD.
- promptly communicating parental developmental concerns to other health care team members.
- determining whether system- and site-specific screening and early action practices are aligned with current AAP recommendations—and if not, challenging those practices.
- encouraging the use of health information technologies, automated screening, surveillance, and action reminder systems.
- reviewing with caregivers the safety precautions for those at risk for ASD.
- referring families to local early intervention providers and public education assessment services, or if such services are not locally available, working with social service agencies and legislators to obtain funding for this purpose.
- verifying completion of all specialist referrals, including any additional referrals addressing family support and education, such as for social work.
- reminding families to bring all previous medical, therapeutic, and individualized education program (IEP) reports to diagnostic appointments with all specialists.
- teaching families and other practitioners the importance of intervening at the earliest time to help children at risk for ASD.
- ensuring that children identified as being at risk for ASD undergo appropriate follow-up appointments as soon as possible.
Long-standing stigmas associated with ASD are beginning to fade as research has progressed, revealing short- and long-term progress made possible through early intervention. Universal screening and surveillance remain critical to the detection of children at risk for ASD. While qualification for early intervention services is not dependent on a formal ASD diagnosis, a good understanding of ASD symptoms can help parents focus treatment goals on the unique qualities and needs of their children with ASD. For a list of online resources nurses can share with patients' families, see Resources.
For more information, visit the following websites and share them with your patients' families:
American Academy of Pediatrics:www.aap.org (search for autism or ASD)
Centers for Disease Control and Prevention:www.cdc.gov (search for autism or ASD)
National Autism Association:BeREDy Booklets, wandering prevention resources for caregivers, first responders, and teachers: http://nationalautismassociation.org/resources/awaare-wandering/be-redy-booklets
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