As biotechnologies advance and better treatment regimens emerge, there is a trend toward applying more advanced technologies and adding more conditions to the newborn screening (NBS) panel. In the current Recommended Uniform Screening Panel (RUSP), all conditions but one, congenital hypothyroidism, have well-defined genes and inheritance patterns, so it is beneficial to incorporate molecular testing in NBS when it is necessary and appropriate. Indeed, the applications of molecular technologies have taken NBS to previously uncharted territory. In this paper, based on our own program experience and what has been reported in the literature, we describe current practices regarding the applications of molecular technologies in routine NBS practice in the era of genomic and precision medicine.

We examined relationships between measures of adaptive behavior, cognitive ability, and autism symptom severity in 1458 preschool-aged children with autism from the Study to Explore Early Development. While publications commonly describe autistic children as “low-” or “high-functioning” based on cognitive ability, relying solely on cognitive scores may obscure meaningful variation in functioning. We found significant heterogeneity in adaptive behavior scores of children with cognitive scores both above and below the threshold of two or more standard deviations below the population mean specified in the diagnostic criteria for intellectual disability (ID). Although cognitive and adaptive behavior scores were strongly associated in our sample, considerable variation in overall adaptive behavior and more than half in socialization and motor skills was unaccounted for by cognitive ability, autism symptom severity, and other covariates. Among children who could be designated “low-functioning” based on cognitive scores, 39.7% had composite adaptive behavior scores indicating no significant delays, while among those who might be designated “high-functioning,” 9.0% had significant delays in overall adaptive behavior and 22.2% in socialization. These results suggest adaptive behavior scores capture variations in the autism phenotype not accounted for by other measures we considered. Lay Autistic people are often described as “low-” or “high-functioning” based on their scores on cognitive tests. These terms are common in publications and in everyday communication. However, recent research and feedback from the autistic community suggests that relying on cognitive ability alone to describe functioning may miss meaningful differences in the abilities of autistic children and adults and in the kinds of support they may need. Additional methods are needed to describe “functioning” in autistic children. We examined whether scores from a test measuring adaptive behaviors would provide information on the functional abilities of children with autism that is different from cognitive ability and autism symptom severity. Adaptive behaviors include age-appropriate skills that allow people to function in their everyday lives and social interactions. We found that a large amount of the variation in adaptive behavior scores was not explained by cognitive development, autism symptom severity, and behavioral and emotional problems. In addition, there was a wide range of adaptive ability levels in children with autism in our study, including in those with low, average, or high cognitive scores. Our results suggest that adaptive behavior scores could provide useful information about the strengths and support needs of autistic children above and beyond measures of cognitive ability and autism symptom severity. Adaptive behavior scores provide important information on the needs of autistic people.

Intellectual disability (ID) commonly co‐occurs in children with autism. Although diagnostic criteria for ID require impairments in both cognitive and adaptive functioning, most population‐based estimates of the frequency of co‐occurring ID in children with autism—including studies of racial and ethnic disparities in co‐occurring autism and ID—base the definition of ID solely on cognitive scores. The goal of this analysis was to examine the effect of including both cognitive and adaptive behavior criteria on estimates of co‐occurring ID in a well‐characterized sample of 2‐ to 5‐year‐old children with autism. Participants included 3264 children with research or community diagnoses of autism enrolled in the population‐based Study to Explore Early Development (SEED) phases 1–3. Based only on Mullen Scales of Early Learning (MSEL) composite cognitive scores, 62.9% (95% confidence interval [CI]: 61.1, 64.7%) of children with autism were estimated to have co‐occurring ID. After incorporating Vineland Adaptive Behavior Scales, Second Edition (VABS‐II) composite or domains criteria, co‐occurring ID estimates were reduced to 38.0% (95% CI: 36.2, 39.8%) and 45.0% (95% CI: 43.1, 46.9%), respectively. The increased odds of meeting ID criteria observed for non‐Hispanic (NH) Black and Hispanic children relative to NH White children when only MSEL criteria were used were substantially reduced, though not eliminated, after incorporating VABS‐II criteria and adjusting for selected socioeconomic variables. This study provides evidence for the importance of considering adaptive behavior as well as socioeconomic disadvantage when describing racial and ethnic disparities in co‐occurring ID in epidemiologic studies of autism.

To test initial hypotheses that the coronavirus disease 2019 (COVID-19) pandemic was associated with decreases in adaptive behavior and increases in behavioral and emotional problems of children with autism; greater impacts for children who lost specialty services; and greater behavioral and emotional problems for children with autism vs control participants. Eligible participants (N = 1,158) enrolled in phase 3 of the multisite, case-control Study to Explore Early Development (SEED) before March 31, 2020, were between 2 and 5 years old, and completed follow-up assessments between January and July 2021. Caregivers completed a COVID-19 Impact Assessment Questionnaire, Vineland Adaptive Behavior Scales (VABS), and Child Behavior Checklist (CBCL) for 274 children with autism and 385 control participants. Mean VABS communication scores of children with autism decreased significantly (mean difference [SD] = −4.2 [10.5]) between prepandemic and pandemic periods, while VABS composite (+2.0 [9.0]), daily living (+5.5 [11.4]), socialization (+2.3 [10.0]), and CBCL (−3.2 [8.4]) scores improved. In contrast, CBCL scores worsened in population control participants (+3.4 [8.8]). Children with autism who missed specialty appointments scored significantly lower on VABS during the pandemic vs children who did not miss appointments (VABS Composite 70.6; 95% CI 68.8-72.4 vs 74.5; 95% CI 71.8-77.2). While stay-at-home policies of the COVID-19 pandemic may have beneficially impacted daily living skills, socialization, and behavioral and emotional well-being of children with autism, benefits may have occurred at the cost of communication skills. These findings indicate the need for strategies to maintain therapeutic services in future emergency settings. We worked to ensure sex and gender balance in the recruitment of human participants. We worked to ensure race, ethnic, and/or other types of diversity in the recruitment of human participants. We worked to ensure that the study questionnaires were prepared in an inclusive way. One or more of the authors of this paper self-identifies as a member of one or more historically underrepresented sexual and/or gender groups in science.

The autistic community is a large, growing, and heterogeneous population, and there is a need for improved methods to describe their diverse needs. Measures of adaptive functioning collected through public health surveillance may provide valuable information on functioning and support needs at a population level. We aimed to use adaptive behavior and cognitive scores abstracted from health and educational records to describe trends over time in the population prevalence of autism by adaptive level and co‐occurrence of intellectual disability (ID). Using data from the Autism and Developmental Disabilities Monitoring Network, years 2000 to 2016, we estimated the prevalence of autism per 1000 8‐year‐old children by four levels of adaptive challenges (moderate to profound, mild, borderline, or none) and by co‐occurrence of ID. The prevalence of autism with mild, borderline, or no significant adaptive challenges increased between 2000 and 2016, from 5.1 per 1000 (95% confidence interval [CI]: 4.6–5.5) to 17.6 (95% CI: 17.1–18.1) while the prevalence of autism with moderate to profound challenges decreased slightly, from 1.5 (95% CI: 1.2–1.7) to 1.2 (95% CI: 1.1–1.4). The prevalence increase was greater for autism without co‐occurring ID than for autism with co‐occurring ID. The increase in autism prevalence between 2000 and 2016 was confined to autism with milder phenotypes. This trend could indicate improved identification of milder forms of autism over time. It is possible that increased access to therapies that improve intellectual and adaptive functioning of children diagnosed with autism also contributed to the trends.

Motor difficulties are common in autistic individuals and may contribute to challenges in social development. Understanding the association between motor and social skills could inform interventions to improve developmental outcomes. Using data from the Study to Explore Early Development—a large, diverse sample of rigorously characterized preschool-aged autistic children in the United States—we aimed to (a) describe the frequency of motor challenges using multiple standardized instruments; and (b) evaluate associations between motor and social skills. Children were identified from health and education organizations and birth records. Caregivers completed standardized interviews and questionnaires, and children completed comprehensive developmental evaluations to determine autism status. Among 2,039 children meeting the study autism criteria, 67.3% exhibited motor scores ⩾2 standard deviations below the mean on at least one measure. Motor difficulties were more prevalent in the fine motor (up to 63.4%) than gross motor (14.2%) domain and among children with significant visual reception delays (up to 92.8%) than those without these delays (up to 32.0%). After adjusting for covariates, fine motor skills were significantly associated with social challenges in both functional and autism-specific domains. These findings highlight the importance of motor development in early autism evaluations. Lay Many autistic children have challenges with movement skills, such as crawling, walking, or using their hands for tasks like drawing or eating. These motor difficulties can also affect how children learn, play, and interact with others. Understanding how motor and social skills are connected may help improve early support for autistic children. This study used data from the Study to Explore Early Development, a large research project that included preschool-aged autistic children from diverse communities across the United States. Parents completed interviews and surveys about their child’s development, and each child was evaluated by trained professionals to better understand their strengths and needs. We looked at over 2,000 autistic children and found that about 67% (two out of three) had motor skill scores that were well below what’s typical for their age. Motor difficulties were more common when children used small muscles in the hands and fingers, like when drawing or eating, than when they used large muscles, like when crawling or walking. We also found that children with stronger motor skills tended to have fewer social challenges. These results show that motor delays are not only common in young autistic children but may also be linked to how they develop social skills. Spotting motor difficulties early could help families and professionals better support each child’s development. Supporting motor skills in early childhood, along with communication and behavior, might help autistic children build stronger social connections. By raising awareness about the role of motor skills in autism, we could help make interventions more effective and equitable, leading to autistic children learning, playing, and connecting with others more easily.