Background: Widely recommended developmental surveillance methods include developmental monitoring (DM) and development screening (DS). Much research has been done on DS, but very little research has compared the effectiveness of DM and DS together. Objectives: To investigate the relationship between DM and DS in Part C early intervention (EI) service receipt. Methods: Authors used data from the 2007/2008 and 2011/2012 National Survey of Children's Health (NSCH). Authors report the prevalence of children aged 10 months to 3 years who received (a) DM only, (b) DS only, (c) both DM and DS, and (c) no DM or DS across survey years. Authors compare the odds of EI receipt across these groups. Results: During both periods, estimated EI receipt prevalence was higher for children receiving both DM and DS (8.38% in 2007/2008; 6.47% in 2011/2012) compared to children receiving no DM or DS (1.31% in 2007/2008; 1.92% in 2011/2012), DM alone (2.74% in 2007/2008; 2.70% in 2011/2012), or DS alone (3.59% in 2007/2008; 3.09% in 2011/2012) (for both time frames, p < .05). From 2007/2008 to 2011/2012, the proportion of children receiving DS only and both DM and DS increased, while children receiving DM only and no DM or DS decreased. Conclusions: Children receiving DM and DS together were more likely to receive EI compared to children receiving DM alone, DS alone, or neither DM nor DS. These findings support the AAP recommendations indicating that DM and DS are complementary strategies for improving early identification and linkage to EI for young children.

Background: Autism spectrumdisorder (ASD) commonly presents with co-occurring medical conditions (CoCs). Little is known about patterns in CoCs in a time of rising ASD prevalence. Aims: To describe trends in number and type of documented CoCs in 8-year-old children with ASD. Methods: We used Autism and Developmental Disabilities Monitoring Network (ADDM) data, a multi-source active surveillance system monitoring ASD prevalence among 8-year-old children across the US. Data from surveillance years 2002, 2006, 2008, and 2010 were used to describe trends in count, categories, and individual CoCs. Results: Mean number of CoCs increased from 0.94 CoCs in 2002 to 1.06 CoCs in 2010 (p < 0.001). The percentage of children with ASD with any CoC increased from 44.5% to 56.4% (p < 0.001). CoCs with the greatest increases were in general developmental disability (10.4% to 14.5%), language disorder (18.9% to 23.6%), and motor developmental disability (10.5% to 15.6%). Sex modified the relationship between developmental (P = 0.02) and psychiatric (P < 0.001) CoCs and surveillance year. Race/ethnicity modified the relationship between neurological conditions (P = 0.04) and surveillance year. Conclusions: The increase in the percentage of children with ASD and CoCs may suggest the ASD phenotype has changed over time or clinicians are more likely to diagnose CoCs.

Purpose: The criteria for autism spectrum disorder (ASD) were revised in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM). The objective of this study was to compare the sensitivity and specificity of DSM-IV-Text Revision (DSM-IV-TR) and DSM-5 definitions of ASD in a community-based sample of preschool children. Methods: Children between 2 and 5 years of age were enrolled in the Study to Explore Early Development-Phase 2 (SEED2) and received a comprehensive developmental evaluation. The clinician(s) who evaluated the child completed two diagnostic checklists that indicated the presence and severity of DSM-IV-TR and DSM-5 criteria. Definitions for DSM-5 ASD, DSM-IV-TR autistic disorder, and DSM-IV-TR Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) were created from the diagnostic checklists. Results: 773 children met SEED2 criteria for ASD and 288 met criteria for another developmental disorder (DD). Agreement between DSM-5 and DSM-IV-TR definitions of ASD were good for autistic disorder (0.78) and moderate for PDD-NOS (0.57 and 0.59). Children who met DSM-IV-TR autistic disorder but not DSM-5 ASD (n = 71) were more likely to have mild ASD symptoms, or symptoms accounted for by another disorder. Children who met PDD-NOS but not DSM-5 ASD (n = 66), or vice versa (n = 120) were less likely to have intellectual disability and more likely to be female. Sensitivity and specificity were best balanced with DSM-5 ASD criteria (0.95 and 0.78, respectively). Conclusions: The DSM-5 definition of ASD maximizes diagnostic sensitivity and specificity in the SEED2 sample. These findings support the DSM-5 conceptualization of ASD in preschool children.

This study examined associations between ASD diagnosis retention and non-ASD co-occurring conditions (CoCs) by child sex. The sample included 7077 males and 1487 females who had an ASD diagnosis documented in their school or health records in a population-based ASD surveillance system for 8-year-old children. ASD diagnosis retention status was determined when an initial ASD diagnosis was not later ruled out by a community professional. We found that ASD diagnosis remains fairly stable, with only 9% of children who had an initial documented ASD diagnosis later being ruled-out. Although most of the associations between the ASD diagnosis retention status and CoCs are similar in both sexes, the co-occurrence of developmental diagnoses (e.g., intellectual disability or sensory integration disorder) was predic tive of ASD diagnostic changes in males, whereas the co-occurrence of specific developmental (e.g., personal/social delay) and neurological diagnosis (e.g., epilepsy) was associated with ASD diagnostic change in females. More ASD-related evaluations and less ASD-related impairment were associated with later ASD rule outs in both sexes. Our findings highlight that CoCs can complicate the diagnostic picture and lead to an increased likelihood of ambiguity in ASD diagnosis. Using sensitive and appropriate measures in clinical practice is necessary for differential diagnosis, particularly when there are co-occurring developmental conditions.

Previous studies report associations between conception with assisted reproductive technology (ART) and autism. Whether these associations reflect an ascertainment or biologic effect is undetermined. We assessed diagnosis age and initial autism symptom severity among >30,000 children with autism from a linkage study of California Department of Developmental Services records, birth records, and the National ART Surveillance System. Median diagnosis age and symptom severity levels were significantly lower for ART-conceived than non-ART-conceived children. After adjustment for differences in the socio-demographic profiles of the two groups, the diagnosis age differentials were greatly attenuated and there were no differences in autism symptomatology. Thus, ascertainment issues related to SES, not ART per se, are likely the driving influence of the differences we initially observed.

This study examined the prevalence and characteristics of autism spectrum disorder (ASD), cerebral palsy (CP), hearing loss (HL), intellectual disability (ID), and vision impairment (VI) over a 15-20 year time period, with specific focus on concurrent changes in ASD and ID prevalence. We used data from a population-based developmental disabilities surveillance program for 8-year-olds in metropolitan Atlanta. From 1991-2010, prevalence estimates of ID and HL were stable with slight increases in VI prevalence. CP prevalence was constant from 1993-2010. The average annual increase in ASD prevalence was 9.3% per year from 1996-2010, with a 269% increase from 4.2 per 1,000 in 1996 to 15.5 per 1,000 in 2010. From 2000-2010, the prevalence of ID without ASD was stable; during the same time, the prevalence of ASD with and without co-occurring ID increased by an average of 6.6% and 9.6% per year, respectively. ASD prevalence increases were found among both males and females, and among nearly all racial/ethnic subgroups and levels of intellectual ability. Average annual prevalence estimates from 1991-2010 underscore the significant community resources needed to provide early intervention and ongoing supports for children with ID (13.0 per 1,000), CP, (3.5 per 1,000), HL (1.4 per 1,000) and VI (1.3 in 1,000), with a growing urgency for children with ASD.

This paper describes a process to define a comprehensive list of exemplars for seven core Diagnostic and Statistical Manual (DSM) diagnostic criteria for autism spectrum disorder (ASD), and report on interrater reliability in applying these exemplars to determine ASD case classification. Clinicians completed an iterative process to map specific exemplars from the CDC Autism and Developmental Disabilities Monitoring (ADDM) Network criteria for ASD surveillance, DSM-5 text, and diagnostic assessments to each of the core DSM-5 ASD criteria. Clinicians applied the diagnostic exemplars to child behavioral descriptions in existing evaluation records to establish initial reliability standards and then for blinded clinician review in one site (phase 1) and for two ADDM Network surveillance years (phase 2). Interrater reliability for each of the DSM-5 diagnostic categories and overall ASD classification was high (defined as very good.60–.79 to excellent ≥.80 Kappa values) across sex, race/ethnicity, and cognitive levels for both phases. Classification of DSM-5 ASD by mapping specific exemplars from evaluation records by a diverse group of clinician raters is feasible and reliable. This framework provides confidence in the consistency of prevalence classifications of ASD and may be further applied to improve consistency of ASD diagnoses in clinical settings.

To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new cases recruited online by SPARK. We identified 60 genes with exome-wide significance (P < 2.5 × 10−6), including five new risk genes (NAV3, ITSN1, MARK2, SCAF1 and HNRNPUL2). The association of NAV3 with autism risk is primarily driven by rare inherited loss-of-function (LoF) variants, with an estimated relative risk of 4, consistent with moderate effect. Autistic individuals with LoF variants in the four moderate-risk genes (NAV3, ITSN1, SCAF1 and HNRNPUL2; n = 95) have less cognitive impairment than 129 autistic individuals with LoF variants in highly penetrant genes (CHD8, SCN2A, ADNP, FOXP1 and SHANK3) (59% vs 88%, P = 1.9 × 10−6). Power calculations suggest that much larger numbers of autism cases are needed to identify additional moderate-risk genes.

The objective of this study was to identify homogenous classes of young children with autism spectrum disorder (ASD) to improve phenotypic characterization. Children were enrolled in the Study to Explore Early Development between 2 and 5 years of age. 707 children were classified with ASD after a comprehensive evaluation with strict diagnostic algorithms. Four classes of children with ASD were identified from latent class analysis: mild language delay with cognitive rigidity, mild language and motor delay with dysregulation, general developmental delay, and significant developmental delay with repetitive motor behaviors. We conclude that a four-class phenotypic model of children with ASD best describes our data and improves phenotypic characterization of young children with ASD. Implications for screening, diagnosis, and research are discussed.

Objective To characterize wandering, or elopement, among children with autism spectrum disorder (ASD) and intellectual disability. Study design Questions on wandering in the previous year were asked of parents of children with ASD with and without intellectual disability and children with intellectual disability without ASD as part of the 2011 Survey of Pathways to Diagnosis and Services. The Pathways study sample was drawn from the much larger National Survey of Children with Special Health Care Needs conducted in 2009-2010. Results For children with special healthcare needs diagnosed with either ASD, intellectual disability, or both, wandering or becoming lost during the previous year was reported for more than 1 in 4 children. Wandering was highest among children with ASD with intellectual disability (37.7%) followed by children with ASD without intellectual disability (32.7%), and then children with intellectual disability without ASD (23.7%), though the differences between these groups were not statistically significant. Conclusions This study affirms that wandering among children with ASD, regardless of intellectual disability status, is relatively common. However, wandering or becoming lost in the past year was also reported for many children with intellectual disability, indicating the need to broaden our understanding of this safety issue to other developmental disabilities.