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The objective of this study was to identify subgroups of toddlers with DSM-5 ASD based on core ASD symptoms using a person-based analytical framework. This is a retrospective study of 500 toddlers (mean age 26 months, 79% male) with DSM-5 ASD. Data were analyzed using latent class analyses in which profiles were formed based on ASD symptomatology. Social communication (SC) symptoms favored a three-class solution, while restricted/repetitive behaviors (RRBs) favored a two-class solution. Classes with higher consistency of SC deficits were younger, with lower developmental functioning. The class with more RRBs was older, with higher functioning. If confirmed in other populations, these classes may more precisely characterize subgroups within the heterogeneous group of toddlers at time of ASD diagnosis.

Attention‐deficit/hyperactivity disorder (ADHD) belongs to a phenotypically broad class of mental health disorders impacting social and cognitive functioning. Despite heritability estimates of 77%–88% and a global prevalence of up to 1 in 20 children, most of the underlying genetic etiology of the disorder remains undiscovered, making it challenging to obtain a clinical molecular genetic diagnosis and to develop new treatments (Biological Psychiatry, 2005, 57, 1313; Psychological Bulletin, 2009, 135, 608; Psychological Medicine, 2014, 44, 2223). Here we report the identification of a novel ultra‐rare heterozygous loss‐of‐function (p.Q1625*) variant in a child with complex ADHD (i.e., comorbid mild intellectual disability [ID]) and a missense (p.G1748R) variant (allele frequency of 4.7 × 10−5) in a child with primary ADHD (i.e., absence of comorbid autism spectrum disorder [ASD], ID, or syndromic features) both in the SPTBN1 gene. Missense variants in SPTBN1 have been reported in individuals with developmental disorders, language and communication disorders, and motor delays in recent publications (Nature Genetics, 2021, 53, 1006; American Journal of Medical Genetics Part A, 2021, 185, 2037) and ClinVar, though most variants in ClinVar have uncertain disease associations. The functional impact of these 135 variants, including from the current study, were further assessed using prediction scores from the recently developed AlphaMissense tool and benchmarked against published functional studies on a subset of the variants. While heterozygous SPTBN1 variants have recently been associated with neurodevelopmental disorders characterized by global developmental delay, intellectual disability, and behavioral abnormalities, the two patients in the current study expand the phenotypic spectrum to include ADHD in the absence of more severe neurodevelopmental disorders, such as ASD and moderate to severe ID. Furthermore, the culmination of these data with existing reported cases suggests that variation including loss of function and missense events underlie a broader clinical spectrum than previously understood. [ABSTRACT FROM AUTHOR]

Purpose: The aim of the study was to provide an overview of population science as applied to speech and language disorders, illustrate data sources, and advance a research agenda on the epidemiology of these conditions. Method: Computer-aided database searches were performed to identify key national surveys and other sources of data necessary to establish the incidence, prevalence, and course and outcome of speech and language disorders. This article also summarizes a research agenda that could enhance our understanding of the epidemiology of these disorders. Results: Although the data yielded estimates of prevalence and incidence for speech and language disorders, existing sources of data are inadequate to establish reliable rates of incidence, prevalence, and outcomes for speech and language disorders at the population level. Conclusions: Greater support for inclusion of speech and language disorder-relevant questions is necessary in national health surveys to build the population science in the field.

Down syndrome (DS) is a complex condition associated with multiple medical, developmental, and behavioral concerns. A prospective, longitudinal clinical database was integrated into a specialty Down Syndrome Program, with the goals of better understanding the incidence, course, and impact of co-occurring medical, neurodevelopmental, and mental health conditions in DS. We describe the process of developing the database, including a systematic approach to data collection and database infrastructure, and report on feasibility, challenges, and solutions of initial implementation. Between March 2018 and November 2021, data from 842 patients (ages 4.8 months to 26 years) was collected. Challenges included caregiver form completion as well as time and personnel required for successful implementation. With full integration into clinical visit flow, the database proved to be feasible. The database enables identification of patterns of development and health throughout the lifespan and it facilitates future data sharing and collaborative research to advance care. [ABSTRACT FROM AUTHOR]

Background: To evaluate associations between attention-deficit/hyperactivity disorder (ADHD) and comorbid psychiatric disorders using research-identified incident cases of ADHD and population-based controls. Methods: Subjects included a birth cohort of all children born 1976-1982 remaining in Rochester, MN after age five (n = 5,718). Among them we identified 379 ADHD incident cases and 758 age-gender matched non-ADHD controls, passively followed to age 19 years. All psychiatric diagnoses were identified and abstracted, but only those confirmed by qualified medical professionals were included in the analysis. For each psychiatric disorder, cumulative incidence rates for subjects with and without ADHD were estimated using the Kaplan-Meier method. Corresponding hazard ratios (HR) were estimated using Cox models adjusted for gender and mother's age and education at the subject's birth. The association between ADHD and the likelihood of having an internalizing or externalizing disorder was summarized by estimating odds ratios (OR). Results: Attention-deficit/hyperactivity disorder was associated with a significantly increased risk of adjustment disorders (HR = 3.88), conduct/oppositional defiant disorder (HR = 9.54), mood disorders (HR = 3.67), anxiety disorders (HR = 2.94), tic disorders (HR = 6.53), eating disorders (HR = 5.68), personality disorders (HR = 5.80), and substance-related disorders (HR = 4.03). When psychiatric comorbidities were classified on the internalization-externalization dimension, ADHD was strongly associated with coexisting internalizing/externalizing (OR = 10.6), or externalizing-only (OR = 10.0) disorders. Conclusion: This population-based study confirms that children with ADHD are at significantly increased risk for a wide range of psychiatric disorders. Besides treating the ADHD, clinicians should identify and provide appropriate treatment for psychiatric comorbidities. (Contains 1 figure and 4 tables.)

Autism prevalence studies have often relied on administrative prevalence or clinical diagnosis as case-identification strategies. We report the "incidence" of "clinical diagnoses" of autism spectrum disorders (ASD), versus "research-identified" autism among residents of Olmsted County, Minnesota, age [less than or equal] 21 years, from 1976-1997. The incidence of "clinically diagnosed" ASD (with 95% CI) was 1.5 per 100,000 (0.0-3.7) in 1980-1983 and 33.1 (22.8-43.3) in 1995-1997, a 22.1-fold increase. In contrast, the incidence of "research-identified" autism increased from 5.5 (1.4-9.5) per 100,000 to 44.9 (32.9-56.9), an 8.2-fold increase. Only 46.8% of research-identified cases received a clinical diagnosis of ASD. These findings demonstrate the potential for misleading interpretation of results from epidemiologic studies that rely on clinical diagnosis of autism to identify cases.

Author(s): Elizabeth B. Harstad[sup.1] [sup.2] , Jason Fogler[sup.1] [sup.2] , Georgios Sideridis[sup.1] [sup.2] , Sarah Weas[sup.1] , Carrie Mauras[sup.1] [sup.2] , William J. Barbaresi[sup.1] [sup.2] Author Affiliations: (1) Division of [...], Controversy exists regarding the DSM-5 criteria for ASD. This study tested the psychometric properties of the DSM-5 model and determined how well it performed across different gender, IQ, and DSM-IV-TR sub-type, using clinically collected data on 227 subjects (median age = 3.95 years, majority had IQ > 70). DSM-5 was psychometrically superior to the DSM-IV-TR model (Comparative Fit Index of 0.970 vs 0.879, respectively). Measurement invariance revealed good model fit across gender and IQ. Younger children tended to meet fewer diagnostic criteria. Those with autistic disorder were more likely to meet social communication and repetitive behaviors criteria (p < .001) than those with PDD-NOS. DSM-5 is a robust model but will identify a different, albeit overlapping population of individuals compared to DSM-IV-TR.