Specificity of Early Childhood Hyperphagia Profiles in Neurogenetic Conditions.

Hyperphagia is highly penetrant in Prader-Willi syndrome (PWS) and has increasingly been reported in other neurogenetic conditions (NGC). The Hyperphagia Questionnaire (HQ) was completed by caregivers of 4-8-year-olds with PWS (n = 17), Angelman syndrome (AS; n = 22), Williams syndrome (WS; n = 25), or low-risk controls (LRC; n = 35). All NGC groups were significantly elevated in HQ Total and Behavior scores compared to LRC. Only AS and WS were significantly elevated in the Drive domain, and only PWS in the Severity domain. After controlling for externalizing behavior, HQ Total scores were higher for PWS relative to other groups. Hyperphagic symptoms may not differentiate PWS from other NGCs in early childhood. However, hyperphagic phenotypes may be most severe in PWS. Further investigation of these profiles may inform etiology and syndrome-specific treatments.

The effects of service dogs for children with autism spectrum disorder and their caregivers: a cross-sectional study.

Introduction: Service dogs are an increasingly popular complementary intervention for children with autism spectrum disorder. However, despite increasing demand, there remains a lack of empirical research on their potential benefits. The purpose of this study was to evaluate the effects of service dogs on children with autism and their caregivers. Methods: A total of N = 75 families of children with autism were recruited from a non-profit service dog provider in the US, including n = 39 families previously placed with a service dog and n = 36 families engaging in usual care while on the waitlist. Caregivers completed an online survey containing both self- and proxy-report standardized measures of child, caregiver, and family functioning. Linear regressions modeled the relationship between service dog presence and survey outcomes, controlling for relevant child and caregiver covariates. Results: Results indicated that having a service dog was associated with significantly better child sleep behaviors, including better sleep initiation and duration and less sleep anxiety/co-sleeping with medium effect sizes. However, service dog presence was not significantly related to child withdrawal, negative emotionality, emotional self-control, hyperactivity, irritability, and lethargy with small effect sizes. For caregivers, having a service dog was not significantly related to standardized measures of caregiver strain, sleep disturbance, depression, or the impact of the child's condition on family functioning with small effect sizes. Supplemental matched case-control analyses confirmed these findings. Discussion: In conclusion, service dogs were found to positively impact sleep behaviors among children with autism, but may not uniformly relate to other areas of child and caregiver wellbeing. Prospective longitudinal designs, larger sample sizes able to detect small effects, and studies that measure sleep using objective methods are needed to build on these findings.

Semi-Automatic Assessment of Vocalization Quality for Children With and Without Angelman Syndrome.

Automated methods for processing of daylong audio recordings are efficient and may be an effective way of assessing developmental stage for typically developing children; however, their utility for children with developmental disabilities may be limited by constraints of algorithms and the scope of variables produced. Here, we present a novel utterance-level processing (ULP) system that 1) extracts utterances from daylong recordings, 2) verifies automated speaker tags using human annotation, and 3) provides vocal maturity metrics unavailable through automated systems. Study 1 examines the reliability and validity of this system in low-risk controls (LRC); Study 2 extends the ULP to children with Angelman syndrome (AS). Results showed that ULP annotations demonstrated high coder agreement across groups. Further, ULP metrics aligned with language assessments for LRC but not AS, perhaps reflecting limitations of language assessments in AS. We argue that ULP increases accuracy, efficiency, and accessibility of detailed vocal analysis for syndromic populations.

Statistical power for longitudinal developmental trajectories: The (non-)impact of age matching within measurement occasions.

Recruiting participants for studies of early-life longitudinal development is challenging, often resulting in practical upper bounds in sample size and missing data due to attrition. These factors pose risks for the statistical power of such studies depending on the intended analytic model. One mitigation strategy is to increase measurement precision by conducting assessments of children as close to a fixed chronological age as possible. We present analyses that illustrate how such practices are only sometimes useful, focusing on cases where temporal trajectories are analyzed using multilevel modeling approaches. Simulations were conducted using results from two studies of longitudinal development. Data were generated according to both continuous and discrete developmental processes and factorially analyzed treating time on either interval, ordinal, or categorical scales. The power to detect continuously generated developmental processes was robust to, and even benefited from, increased variability around target ages. For discrete processes, power was unaffected when modeled ordinally/categorically, but declined steadily if modeled using exact chronological age on an interval scale. Our results suggest that in many circumstances, researchers may be unnecessarily devoting resources toward minimizing age sampling variability when studying functional patterns across time. In fact, when the theoretical developmental process is continuous, increasing the age sampling variability of assessments and utilizing multilevel models in favor of latent growth curve alternatives can be associated with substantial gains rather than reductions in power. Such considerations also extend to limited equivalent formulations of other common developmental models, such as panel analysis. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

Mother-infant convergence of event-related potentials elicited by face and object processing.

Prior work has provided conceptual support for developmental changes in face and object processing, such that: face processing, as captured by the N290 event-related potential (ERP) component in infancy, may develop into the N170 in adulthood; and motivated attention, as captured by the negative central (Nc) in infancy, may develop into the late positive potential (LPP). The present study examined these neural correlates in 12-month-old infants and their mothers (N = 33 dyads). Dyads completed a viewing task consisting of familiar and novel face and toy stimuli while electroencephalography was recorded. Results suggest that for mothers, the N170 was larger for faces than toys, regardless of familiarity, and the LPP was largest for familiar faces. In infants, the N290 was somewhat larger for faces than toys (p < .10); the Nc did not vary by condition. Adult ERPs demonstrated fair to good reliability; reliability of infant ERPs was lower and was influenced by looking behaviors. Intergenerational associations were strongest between the LPP and Nc, particularly when electrode and time window were taken into account. Refinement of data handling and ERP scoring procedures for infant ERPs are crucial next steps for estimation of intergenerational associations and further examination of developmental changes in face and object processing.

COVID-19 and Food-Related Outcomes in Children with Autism Spectrum Disorder: Disparities by Income and Food Security Status.

BACKGROUND: Limited research suggests increased adverse behavioral outcomes, such as distractibility and hyperactivity, among children with autism spectrum disorder (ASD) as a result of coronavirus 2019 (COVID-19); however, little is known about how the pandemic has impacted food-related behaviors among children with ASD. OBJECTIVE: This study characterizes the impact of the pandemic on access to preferred foods and eating behaviors among children with ASD. METHODS: Caregiver proxies (n = 200) participated in a cross-sectional, online survey investigating the impact of COVID-19 on reported food and eating behaviors of children, ages 2-17 y. Logistic regression models were used to assess the magnitude of association of a change in the child's eating behaviors and in food availability, overall and by household income and food security status. RESULTS: A majority of respondents reported a moderate-to-large impact on their child's eating behaviors (57%) since the onset of COVID-19, and 65% reported unavailability of their child's preferred foods. Increased risk of a moderate-to-large impact on children's eating behaviors was associated with shelter regulations compared with no regulations (OR: 2.30; 95% CI: 1.12, 4.72), food insecurity compared with security status (OR: 2.60; 95% CI: 1.45, 4.67), and household income of <$50,000 compared with ≥$100,000 (OR: 2.33; 95% CI: 1.02, 5.29). The pandemic also amplified the risk of food unavailability by household food security status (food insecure vs. secure; OR: 4.13; 95% CI: 2.12, 7.69) and across income levels (<$50,000 vs. ≥$100,000; OR: 3.48; 95% CI: 1.42, 8.55; and $50,000 to <$100,000 vs. ≥$100,000; OR: 4.00; 95% CI: 1.71, 9.34). Reported frequencies of consumption of meat, seafood, vegetables, and 100% fruit juice significantly decreased among the children post-onset of COVID-19, while frequency of consumption of sweets increased. CONCLUSIONS: A large proportion of caregivers reported substantial COVID-19 impacts on food availability and eating behaviors of children with ASD, especially among low-resource dyads. This study highlights the added burden of existing disparities due to the pandemic on children living with ASD.

Did you say my name? Congruency of 12-month-old infants' behavioral and cardiac responses to name.

Reduced orienting to name is an early behavioral risk marker for neurodevelopmental disorders. However, individual instances of infants' behavioral responses to name are limited in both reliability and predictive validity. Physiological responses such as heart rate (HR) deceleration may serve as more sensitive metrics than behavioral methods. As a first step toward validating HR deceleration as a candidate psychophysiological measure of name processing, we examined the congruency of behavioral and cardiac responses to name in 12-month-old typically developing infants. Infants exhibited greater median HR deceleration and spent a larger proportion of time in HR deceleration when they behaviorally oriented to their names than when they failed to do so; however, maximum HR deceleration was not related to behavioral responses. These findings provide preliminary evidence that specific HR deceleration metrics may be useful indices of infants' responses to name and may inform psychophysiological mechanisms underlying behavioral responses.

COVID-19 and behaviors in children with autism spectrum disorder: Disparities by income and food security status.

BACKGROUND: Research on the impact of the COVID-19 pandemic on behaviors of children with autism spectrum disorder (ASD) is lacking. AIMS: This study investigates the relationship between COVID-19 and behaviors of children with ASD living in the United States. METHODS AND PROCEDURES: Parents and caregivers (n = 200) across the United States, as proxies for children 2-17 years of age with ASD, participated in an online survey querying changes in overall behavior and 15 specific behaviors during the COVID-19 pandemic. Logistic regression was used to assess the association of a moderate-to-large impact on the child's overall behavior with household income level and food security status. OUTCOMES AND RESULTS: A majority of respondents reported a moderate-to-large impact on the child's overall behavior (74 %) due to COVID-19. Several specific behaviors were also affected. Stratifying by income level and food security status revealed disparities in the impact on overall behavior and most specific behaviors. Compared to a household income ≥$100 K, an income <$50 K was associated with an increased risk of moderate-to-large impact on the child's overall behavior (odds ratio (OR): 4.07, 95 % CI: 1.60, 10.38). Food insecurity also significantly impacted this risk, even after adjusting for potential confounding factors (OR: 3.31, 95 % CI: 1.13, 9.66). CONCLUSIONS AND IMPLICATIONS: Our findings show a large proportion of caregivers reporting moderate-to-large changes post-COVID-19 in the behaviors of U.S. children with ASD, particularly in families with low income and/or food insecurity. This study highlights the effects of existing disparities on children with ASD and their families during this unprecedented time.

Describing Vocalizations in Young Children: A Big Data Approach Through Citizen Science Annotation.

Purpose Recording young children's vocalizations through wearables is a promising method to assess language development. However, accurately and rapidly annotating these files remains challenging. Online crowdsourcing with the collaboration of citizen scientists could be a feasible solution. In this article, we assess the extent to which citizen scientists' annotations align with those gathered in the lab for recordings collected from young children. Method Segments identified by Language ENvironment Analysis as produced by the key child were extracted from one daylong recording for each of 20 participants: 10 low-risk control children and 10 children diagnosed with Angelman syndrome, a neurogenetic syndrome characterized by severe language impairments. Speech samples were annotated by trained annotators in the laboratory as well as by citizen scientists on Zooniverse. All annotators assigned one of five labels to each sample: Canonical, Noncanonical, Crying, Laughing, and Junk. This allowed the derivation of two child-level vocalization metrics: the Linguistic Proportion and the Canonical Proportion. Results At the segment level, Zooniverse classifications had moderate precision and recall. More importantly, the Linguistic Proportion and the Canonical Proportion derived from Zooniverse annotations were highly correlated with those derived from laboratory annotations. Conclusions Annotations obtained through a citizen science platform can help us overcome challenges posed by the process of annotating daylong speech recordings. Particularly when used in composites or derived metrics, such annotations can be used to investigate early markers of language delays.

Structural validity of the Child Behavior Checklist (CBCL) for preschoolers with neurogenetic syndromes.

BACKGROUND: Psychologists routinely use the Child Behavior Checklist for Ages 1½-5 (CBCL) to assess challenging behaviors of preschoolers with developmental disabilities. However, the CBCL has not been thoroughly validated in neurogenetic syndromes (NGS). AIM: We investigated the structural validity of the CBCL in NGS. METHODS: Based on 152 preschoolers with Angelman, fragile X, Prader-Willi, and Williams syndromes, we employed confirmatory factor analysis (CFA) to evaluate the goodness-of-fit of CBCL narrowband, broadband, and DSM-oriented scales. RESULTS: CFA models largely supported the unidimensionality of most narrowband scales and the two-factor structure of internalizing and externalizing broadband scales. However, there was limited evidence for the unidimensionality of most DSM-oriented scales. CONCLUSIONS: Psychologists may consider using the CBCL as a psychometrically sound narrowband and broadband measure of challenging behaviors but should exercise caution when interpreting DSM-oriented scales for preschoolers with NGS. Our findings underscore a continued need to enhance assessment measures for identifying early precursors of child psychopathology in pediatric populations with atypical developmental trajectories.

Bringing the Laboratory Home: PANDABox Telehealth-Based Assessment of Neurodevelopmental Risk in Children.

BACKGROUND: Advances in clinical trials have revealed a pressing need for outcome measures appropriate for children with neurogenetic syndromes (NGS). However, the field lacks a standardized, flexible protocol for collecting laboratory-grade experimental data remotely. To address this challenge, we developed PANDABox (Parent-Administered Neurodevelopmental Assessment), a caregiver-facilitated, remotely administered assessment protocol for collecting integrated and high quality clinical, behavioral, and spectral data relevant to a wide array of research questions. Here, we describe PANDABox development and report preliminary data regarding: (1) logistics and cost, (2) caregiver fidelity and satisfaction, and (3) data quality. METHODS: We administered PANDABox to a cohort of 16 geographically diverse caregivers and their infants with Down syndrome. Tasks assessed attention, language, motor, and atypical behaviors. Behavioral and physiological data were synchronized and coded offline by trained research assistants. RESULTS: PANDABox required low resources to administer and was well received by families, with high caregiver fidelity (94%) and infant engagement (91%), as well as high caregiver-reported satisfaction (97% positive). Missing data rates were low for video frames (3%) and vocalization recordings (6%) but were higher for heart rate (25% fully missing and 13% partially missing) and discrete behavioral presses (8% technical issues and 19% not enough codable behavior), reflecting the increased technical demands for these activities. CONCLUSION: With further development, low-cost laboratory-grade research protocols may be remotely administered by caregivers in the family home, opening a new frontier for cost-efficient, scalable assessment studies for children with NGS other neurodevelopmental disorders.

Autism Spectrum Disorder-Associated Behaviour in Infants with Down Syndrome.

BACKGROUND: Individuals with Down syndrome (DS) are at high risk for autism spectrum disorder (ASD) with ~20% of individuals meeting diagnostic criteria for ASD. Despite the high risk, there is no research documenting early signs of ASD in infants with DS or potential prodromal ASD-associated behaviors. AIM: This preliminary case-control study described ASD-associated behaviors in infants with DS contrasted to typically developing (TD) infants. PATIENTS AND METHODS: The Autism Observation Scale for Infants (AOSI) was used to describe ASD-related behaviors in 18 infants with DS (7-18 months) and 18 TD infants (9-14 months). RESULTS: Thirty nine percent (7 out of 18) of infants with DS in our sample were designated "at risk" for ASD on the AOSI with 100% of infants with DS demonstrating at least one feature of ASD. In contrast, only 11% (2 out of 18) of TD infants were designated "at risk" for ASD on the AOSI. Social and communication impairments appear to represent early signs of elevated ASD-associated behavior in infants with DS. CONCLUSIONS: Early signs of ASD-associated behavior appear present and detectable in infants with DS. These early signs mirror findings of other populations at risk for ASD with social communication as the primary behavioral impairment to signal elevated risk for the emergence of ASD. This study contributes to the refinement of the DS behavioral phenotype and identifies important next steps to help improve the identification, diagnosis, and treatment of ASD in DS.

Using generalizability theory to evaluate the comparative reliability of developmental measures in neurogenetic syndrome and low-risk populations.

BACKGROUND: The lack of available measures that can reliably characterize early developmental skills in children with neurogenetic syndromes (NGS) poses a significant challenge for research on early development in these populations. Although syndrome-specific measures may sometimes be necessary, a more cost- and time-efficient solution would be to identify existing measures that are appropriate for use in special populations or optimize existing measures to be used in these groups. Reliability is an important metric of psychometric rigor to consider when auditing and optimizing assessment tools for NGS. In this study, we use Generalizability Theory, an extension of classical test theory, as a novel approach for more comprehensively characterizing the reliability of existing measures and making decisions about their use in the field of NGS research. METHODS: We conducted generalizability analyses on a popular early social communication screener, the Communication and Symbolic Behavior Scales-Infant-Toddler Checklist (CSBS-ITC), collected on 172 children (41 Angelman syndrome, 30 Prader-Willi syndrome, 42 Williams syndrome, 59 low-risk controls). RESULTS: Overall, the CSBS-ITC demonstrated at least adequate reliability in the NGS groups included in this study, particularly for the Prader-Willi and Williams syndrome groups. However, the sources of systematic error variance in the CSBS-ITC varied greatly between the low-risk control and NGS groups. Moreover, as unassessed in previous research, the CSBS-ITC demonstrated substantial differences in variance sources among the NGS groups. Reliability of CSBS-ITC scores was highest when averaging across all measurement points for a given child and was generally similar or better in the NGS groups compared to the low-risk control group. CONCLUSIONS: Our findings suggest that the CSBS-ITC communicates different information about the reliability of stability versus change, in low-risk control and NGS samples, respectively, and that psychometric approaches like Generalizability Theory can provide more complete information about the reliability of existing measures and inform decisions about how measures are used in research on early development in NGS.

Intergenerational Transmission of Frontal Alpha Asymmetry Among Mother-Infant Dyads.

BACKGROUND: Frontal alpha asymmetry (FAA) is a well-established neurobiological indicator of depression risk. Reduced FAA relates to current and remitted depression in adults and is seen in offspring of mothers with depression as young as 3 months of age, suggesting a potentially transmittable mechanism of depression risk. It is unclear, however, whether direct familial associations exist for FAA. To address this gap, we evaluated the intergenerational transmission of FAA in a nonclinical cohort of mother-infant dyads. METHODS: Mothers and their 12-month-old infants (n = 34 dyads) completed parallel resting-state tasks while electroencephalography was recorded. We measured FAA across a range of putative frequency bands and calculated its reliability in mothers and infants. Finally, we evaluated the heritability of FAA based on the parent-offspring correlation. RESULTS: Mother and infant FAA convergence was strongest in the high alpha range for mothers (11-13 Hz) and broad alpha range for infants (6-9 Hz). Mother high FAA exhibited excellent split-half reliability (rSB = .99) and internal consistency after 80 seconds (α = .90); infant FAA exhibited good split-half reliability (rSB = .81) and fair internal consistency after 70 seconds (α = .74). Mother-infant FAA were moderately correlated (r = .41), which indicates narrow-sense heritability of up to 82%. CONCLUSIONS: FAA can be assessed reliably and relatively quickly in both adults and infants. There is a robust association of FAA between mothers and their infants, supporting intergenerational transmission. This finding is consistent with the possibility that reduced FAA may directly confer depression risk at the individual-family level.

Early negative affect in males and females with fragile X syndrome: implications for anxiety and autism.

BACKGROUND: Fragile X syndrome (FXS) is a genetic disorder that is highly comorbid with anxiety and autism spectrum disorder (ASD). Elevated negative affect in young children has been associated with increased risk for both anxiety and ASD; however, these relations remain poorly understood in FXS. METHODS: The present prospective longitudinal study examined the trajectory of negative affect from infancy through preschool in males and females with FXS and typical development and its relation to anxiety and ASD. RESULTS: Results indicate a complex association reflecting group, developmental, and sex effects. Specifically, the group with FXS displayed a trajectory of increasing negative affect across age that was distinct from the typical controls. This atypical trajectory of negative affect in FXS was driven by sex effects in that males showed lower negative affect during infancy followed by steep increases across the toddler and preschool years whereas the females displayed a flatter trajectory. Finally, elevated negative affect predicted anxiety symptoms in males, but not females, with no relationship to ASD in males or females with FXS. CONCLUSIONS: The current work addresses the importance of studying the development of psychopathology in a specific neurogenetic population. Temperamental negative affect was shown to be an important early marker for anxiety in young children with FXS, with subtle differences observed between males and females.