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Timing of the Diagnosis of Autism in African American Children John N

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Timing of the Diagnosis of Autism in African American Children John N Timing of the Diagnosis of Autism in African American Children John N. Constantino, MD,a,* Anna M. Abbacchi, MS,a,* Celine Saulnier, PhD,b,c Cheryl Klaiman, PhD,b David S. Mandell, ScD,d Yi Zhang, MS,a Zoe Hawks, MA,a Julianna Bates, PhD,e Ami Klin, PhD,b Paul Shattuck, PhD,f Sophie Molholm, PhD,e Robert Fitzgerald, PhD,a Anne Roux, MPH,f Jennifer K. Lowe, PhD,g Daniel H. Geschwind, MD, PhDg OBJECTIVES: African American (AA) children affected by autism spectrum disorder (ASD) abstract experience delays in diagnosis and obstacles to service access, as well as a disproportionate burden of intellectual disability (ID) as documented in surveillance data recently published by the US Centers for Disease Control and Prevention. Our objective in this study was to analyze data from the largest-available repository of diagnostic and phenotypic information on AA children with ASD, and to explore the wide variation in outcome within the cohort as a function of sociodemographic risk and specific obstacles to service access for the purpose of informing a national approach to resolution of these disparities. METHODS: Parents of 584 AA children with autism consecutively enrolled in the Autism Genetic Resource Exchange across 4 US data collection sites completed event history calendar interviews of the diagnostic odysseys for their children with ASD. These data were examined in relation to developmental outcomes of the children with autism and their unaffected siblings. RESULTS: The average age of ASD diagnosis was 64.9 months (649.6), on average 42.3 months (645.1) after parents’ first concerns about their children’s development. The relationship between timing of diagnosis and ASD severity was complex, and ID comorbidity was not predicted in a straightforward manner by familial factors associated with cognitive variation in the general population. CONCLUSIONS: These findings document significant opportunity to expedite diagnosis, the need to further understand causes of ID comorbidity, and the necessity to identify effective approaches to the resolution of disparities in severity-of-outcome for AA children with autism. aDepartment of Psychiatry, School of Medicine, Washington University, St Louis, Missouri; bMarcus Autism Center, WHAT’S KNOWN ON THIS SUBJECT: African American School of Medicine, Emory University, Atlanta, Georgia; cNeurodevelopmental Assessment and Consulting (AA) children with autism experience racial disparities Services, Atlanta, Georgia; dDepartment of Psychiatry, Perelman School of Medicine, University of Pennsylvania, in timing of diagnosis and access to quality e Philadelphia, Pennsylvania; Departments of Pediatrics, Neuroscience, and Psychiatry and Behavioral Sciences, interventions. AA children experience twice the rate of Albert Einstein College of Medicine, Bronx, New York; fDrexel Autism Institute, Drexel University, Philadelphia, Pennsylvania; and gDepartments of Neurology, Psychiatry, and Human Genetics, David Geffen School of Medicine, comorbid intellectual disability and higher rates of University of California, Los Angeles, California misdiagnosis of autism compared with non-Hispanic white children. *Contributed equally as co-first authors WHAT THIS STUDY ADDS: These data reveal a 3-year Dr Constantino drafted the initial manuscript, conceptualized and designed the study, secured time lag between parental recognition of funding, assumed the role of principal investigator for data collection site, and coauthored the developmental delay and autism diagnosis among AAs, Diagnostic Odyssey data collection instrument; Ms Abbacchi drafted the initial manuscript, and that excess intellectual disability burden cannot coordinated and supervised data collection, and conducted analyses of data; Drs Saulnier and Klaiman drafted the initial manuscript and coordinated and supervised data collection; Dr Mandell be explained by ascertainment bias or by traditional drafted the initial manuscript and coauthored the Diagnostic Odyssey data collection instrument; familial predictors of cognitive outcome. Ms Zhang coordinated and supervised data collection and conducted analyses of data; Ms Hawks Conducted analyses of data; Dr Bates coordinated and supervised data collection; (Continued) To cite: Constantino JN, Abbacchi AM, Saulnier C, et al. Timing of the Diagnosis of Autism in African American Children. Pediatrics. 2020;146(3):e20193629 Downloaded from www.aappublications.org/news by guest on October 2, 2021 PEDIATRICS Volume 146, number 3, September 2020:e20193629 ARTICLE Despite implementation of the US a near-equivalence of prevalence the parent study, we were able to Centers for Disease Control and across race, this explanation is no specify the genetic ancestry of the Prevention (CDC) “Learn the Signs, longer tenable. Even if the residual study population. Act Early” campaign, recent prevalence gap were assumed to be community surveillance data1 has composed exclusively of children METHODS revealed persistent delays in the without ID, it would result in an timing of diagnosis of autism adjusted estimate of 41% of AA Participants were enrolled in Autism spectrum disorder (ASD). Overall, children with ASD having Genetics Network, Phase II: 39% of children with ASD did not comorbid ID. Increasing the Representation of have a comprehensive evaluation on Human Diversity (US NIH MH100027; Therefore, we leveraged an ongoing record until after age 48 months, institutional review board 11- data collection of AA children with although 85% had parents’ 000397). The parents of all ASD and their first-degree relatives developmental concerns documented participants provided individual (US National Institutes of Health before age 36 months. Typically, the informed consent; the assent process [NIH] MH100027; to our knowledge, timing of diagnosis is earlier for more was conducted with children, when the most comprehensive data severe cases of ASD; during historical deemed appropriate, in accordance collection to inform these issues) to eras in which the rates of community with institutional review board explore potential drivers of delay in diagnosis of autism were lower for guidelines. Data collection spanned diagnosis and the ID disparity. minority children, those who were the years 2013 to 2018. Specifically, we sought to identify identified tended to exhibit more targets for accelerating the timing of Participants severe syndromes.2 diagnosis in AA children with autism9 The sample comprised 584 According to 2018 US surveillance and to determine if commonly consecutively enrolled AA children data, the racial gap in identification observed family and social correlates with ASD (466 male, 118 female) and has now narrowed to a difference of of cognitive variation among minority their family members at Washington just 1.2 per 1000 (16 per 1000 for youth in the United States predicted University in St Louis, MO (N = 205); African American [AA] vs 17.2 per variation in IQ among AA children Emory University in Atlanta, GA (N = 1000 for non-Hispanic white with ASD. 181); University of California, Los [NHW]).1 Delays in diagnosis remain With the analyses presented in this Angeles (N = 131); and Albert greater, on average, for AA children, report, we incorporated 4 elements of Einstein College of Medicine in Bronx, and the consequences of these delays data acquisition. The first was an NY (N = 67); see Sample are particularly severe because of event history calendar interview on Characteristics, Participants’ State of known disparities in the acquisition the pathway from earliest recognition Residency, and Study Enrollment in and quality of intervention services – of developmental delay to each child’s Supplemental Information for details once a diagnosis has been made.3 5 diagnosis.10 The second involved of subject accrual. AA and Latino children with ASD, on direct cognitive assessment of the average, are more likely to have At both the Washington University children and their close relatives; this carried non-ASD diagnoses before and Emory University sites, cognitive allowed a direct test of association of adefinite ASD diagnosis, have poorer assessments were conducted on the traditional correlates of low IQ with access to health care services, and are first-degree relatives (biological the cognitive outcomes of the less likely to have a medical parents and siblings) of all subjects – children with ASD in this study, who home.4,6 8 for whom both parents were AA. manifested a wide and fully A particularly serious disparity is that representative range of IQ for Genetic confirmation of ancestry of all the proportion of AA children with children with ASD. Third, as a direct subjects is presented in Genetic ASD and comorbid intellectual validation of the CDC epidemiological Confirmation of African Ancestry in disability (ID) is double that of NHW surveillance statistics, and a check on Supplemental Information and children (44% vs 22%).1 Historically, the population-representativeness of Supplemental Fig 1. when community diagnostic rates for the sample of AA children ASD were disproportionately low for consecutively enrolled in this data Measures minority children, it was assumed collection, we seperately analyzed the A Diagnostic Odyssey Interview that higher rates of ID comorbidity subset of children who fell within the instrument, modeled on the Event among minority populations might be birth years and Missouri catchment History Calendar Interview method, explainable on the basis of area for the CDC surveillance was developed for the study and underidentification
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