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Use of telehealth assessments for toddlers at increased likelihood of autism spectrum disorder (ASD) began prior to the global COVID-19 pandemic; however, the value of telehealth assessments as an alternative to in-person assessment (IPA) became clearer during the pandemic. The Naturalistic Observation Diagnosis Assessment (NODA™), previously demonstrated as a valid and reliable tool to evaluate asynchronous behaviors for early diagnosis, was enhanced to add synchronous collection of behaviors to assist clinicians in making a differential diagnosis of ASD. This study was conducted to validate the information gathered through NODA-Enhanced (NODA-E™) as compared to a gold standard IPA. Forty-nine toddlers aged 16.0–32.1 months of age, recruited through community pediatric offices and a tertiary ASD clinic, participated in both NODA-E and IPA assessments. There was high agreement between the two assessment protocols for overall diagnosis (46 of 49 cases; 93.6%; κ =.878), specific diagnostic criteria for social communication and social interaction (SCI; range 95.9–98%; κ =.918—.959), and for two of four criteria specified for restricted and repetitive behaviors (RRB; range 87.8–98%; κ =.755 and.959). There was lower agreement for two subcategories of RRBs (range 65.3–67.3%; κ =.306 and.347). NODA-E is a tool that can assist clinicians in making reliable and valid early ASD diagnoses using both asynchronous and synchronous information gathered via telehealth and offers an additional tool within a clinician's assessment toolbox. [ABSTRACT FROM AUTHOR]

Background: 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal interstitial-deletion disorder, occurring in approximately 1 in 2000 to 6000 live births. Affected individuals exhibit variable clinical phenotypes that can include velopharyngeal anomalies, heart defects, T-cell-related immune deficits, dysmorphic facial features, neurodevelopmental disorders, including autism, early cognitive decline, schizophrenia, and other psychiatric disorders. Developing comprehensive treatments for 22q11.2DS requires an understanding of both the psychophysiological and neural mechanisms driving clinical outcomes. Our project probes the core psychophysiological abnormalities of 22q11.2DS in parallel with molecular studies of stem cell-derived neurons to unravel the basic mechanisms and pathophysiology of 22q11.2-related psychiatric disorders, with a primary focus on psychotic disorders. Our study is guided by the central hypothesis that abnormal neural processing associates with psychophysiological processing and underlies clinical diagnosis and symptomatology. Here, we present the scientific background and justification for our study, sharing details of our study design and human data collection protocol. Methods: Our study is recruiting individuals with 22q11.2DS and healthy comparison subjects between the ages of 16 and 60 years. We are employing an extensive psychophysiological assessment battery (e.g., EEG, evoked potential measures, and acoustic startle) to assess fundamental sensory detection, attention, and reactivity. To complement these unbiased measures of cognitive processing, we will develop stem-cell derived neurons and examine neuronal phenotypes relevant to neurotransmission. Clinical characterization of our 22q11.2DS and control participants relies on diagnostic and research domain criteria assessments, including standard Axis-I diagnostic and neurocognitive measures, following from the Measurement and Treatment Research to Improve Cognition in Schizophrenia (MATRICS) and the North American Prodrome Longitudinal Study (NAPLS) batteries. We are also collecting measures of autism spectrum (ASD) and attention deficit/hyperactivity disorder (ADHD)-related symptoms. Discussion: Studying 22q11.2DS in adolescence and adulthood via deep phenotyping across multiple clinical and biological domains may significantly increase our knowledge of its core disease processes. Our manuscript describes our ongoing study's protocol in detail. These paradigms could be adapted by clinical researchers studying 22q11.2DS, other CNV/single gene disorders, or idiopathic psychiatric syndromes, as well as by basic researchers who plan to incorporate biobehavioral outcome measures into their studies of 22q11.2DS. [ABSTRACT FROM AUTHOR]

Aim: To evaluate the psychometric properties of a 4‐minute assessment designed to identify early autism spectrum disorder (ASD) status through evaluation of early social responsiveness (ESR). Method: This retrospective, preliminary study included children between 13 and 24 months (78 males, 79 females mean age 19.4mo, SD 3.1) from two independent data sets (an experimental/training sample [n=120] and a validation/test sample [n=37]). The ESR assessment examined social behaviors (e.g. eye contact, smiling, ease‐of‐social‐engagement) across five common play activities (e.g. rolling a ball, looking at a book). Data analyses examined reliability and accuracy of the assessment in identifying ESR abilities and in discriminating children with and without ASD. Results: Results indicated adequate internal consistency and test–retest reliability of the ESR assessment. Receiver operator curve analysis identified a cutoff score that discriminated infants with ASD‐risk from peers in the training sample. This score yielded moderate sensitivity and high specificity for best‐estimate ASD diagnosis in the validation sample. Interpretation: Preliminary findings indicated that brief, systematic observation of ESR may assist in discriminating infants with and without ASD, providing concrete evidence to validate or supplement parents', pediatricians', or clinicians' concerns. Future studies could examine the utility of ESR 'growth curves'. [ABSTRACT FROM AUTHOR]

Studies examining associations between fetal serotonin reuptake inhibitor (SRI) exposure and child autism spectrum disorder (ASD) diagnoses or delayed language remain mixed and rarely prospectively follow children or employ gold-standard assessments. We prospectively followed a cohort of mother–child dyads from pregnancy through early elementary school (N = 178), and obtained maternal and alternate–caregiver ratings of behaviors related to ASD (N = 137), as well as direct, gold-standard assessments of child ASD symptoms and pragmatic language among dyads who experienced prenatal depression and either took SRIs or were medication free during pregnancy (N = 44). Prenatal SRI exposure was related to maternal ratings of ASD-related behaviors (β = 0.24 95% confidence interval; CI [0.07, 0.48]), and, among boys, alternative caregiver ratings (males-only β = 0.28 95% CI [0.02, 0.55], females-only β = −0.21 95% CI [–0.63, 0.08]). However, results of our direct assessments suggest an association between SRI exposure and reduced pragmatic language scores (β = –0.27, 95% CI [–0.53, –0.01], but not ASD (Autism Diagnostic Observation Schedule β = 0.14 95% CI [–0.15, 0.41]; Social Responsiveness Scale β = 0.08 95% CI [–0.25, 0.40]). These discrepancies point to issues regarding how ASD is assessed, and the possibility that SRIs may be more strongly associated with language or other broader behaviors that coincide with ASD. Larger prospective studies that incorporate thorough, gold-standard assessments of ASD, language, and other ASD-related behaviors are needed. [ABSTRACT FROM AUTHOR]

Summary: Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by the deficiency of alpha‐galactosidase A. In addition to the debilitating physical symptoms of FD, there are also under‐recognized and poorly characterized psychiatric features. As a first step toward characterizing psychiatric features of FD, we administered the Achenbach adult self report questionnaire to 30 FD patients and the Achenbach adult behavior checklist questionnaire to 28 partners/parents/friends of FD patients. Data from at least one of the questionnaires were available on 33 subjects. Analysis focused on social‐adaptive functioning in various aspects of daily life and on criteria related to the Diagnostic and statistical manual of mental disorders IV (DSM‐IV). Adaptive functioning scale values, which primarily measure social and relationship functioning and occupational success, showed that eight FD patients (six female and two male) had mean adaptive functioning deficits as compared to population norms. Greater rates of depression (P < 0.01), anxiety (P = 0.05), depression and anxiety (P = 0.03), antisocial personality (P < 0.001), attention‐deficit/hyperactivity (AD/H; P < 0.01), hyperactivity–impulsivity (P < 0.01), and aggressive behavior (P = 0.03) were associated with poorer adaptive functioning. Decreased social‐adaptive functioning in this study was not statistically significantly associated to disease severity, pain, or level of vitality. This study shows for the first time that FD patients, particularly women, are affected by decreased social‐adaptive functioning. Comprehensive treatment plans for FD should consider assessments and interventions to evaluate and improve social, occupational, and psychological functioning. Attention to the behavioral aspects of FD could lead to improved treatment outcome and improved quality of life. Individuals affected by Fabry disease exhibited social‐adaptive functioning deficits that were significantly correlated with anxiety, depression, antisocial behavior, and AD/H problems in a sampling of our male and female patients aged between 18 years and 59 years. [ABSTRACT FROM AUTHOR]

Examines the validity of the Screening Tool for Autism in Two-Year-Olds (STAT) as a Stage 2 screening instrument in a clinic-based sample of children referred for suspected developmental disorders. Scoring algorithm for STAT; Identification of behavioral differences in young children; Clinical diagnosis of autism.

Two studies investigated the nature of motor imitation in young children with autism. Study 1 compared different types of motor imitation in 18 autistic children, 18 children with developmental delay, and 18 normally developing children. Results revealed weaker imitation skills for the autistic group, though all groups demonstrated a similar pattern of performance across different imitation domains. Imitation of body movements was more difficult than imitation of actions with objects, and imitation of nonmeaningful actions was more difficult than imitation of meaningful actions. Study 2 investigated concurrent and predictive relations between imitation and other developmental skills within a sample of 26 two-year-old children with autism. Results suggested that imitation of body movements and imitation of actions with objects represent independent dimensions. Imitation of body movements was concurrently and predictively associated with expressive language skills, and imitation of actions with objects was concurrently associated with play skills. Improvements in both motor imitation domains occurred over a 1-year period. [ABSTRACT FROM AUTHOR]

Gives the results of a study which examined the forms, functions and compleity of nonverbal communication used by very young children with autism. Behavioural patterns of children with autism; Description of the methodology used in the study; Analysis of data collected.