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1.
Article in English | MEDLINE | ID: mdl-39006553

ABSTRACT

The etiological heterogeneity of depression poses a challenge for prevention and intervention efforts. One solution is to map unique etiological pathways for subgroups defined by a singular risk factor. A relevant population for this approach is women who carry the premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene, who are at high risk for adult-onset depression. This study explores a candidate neurophysiological marker of depression risk: reduced reward sensitivity, indexed by the reward positivity (RewP). The RewP has been linked to depression risk in the general population, but is unexplored within FMR1 premutation carriers. 16 women with the FMR1 premutation and a matched control group completed a simple guessing task while the electroencephalogram was recorded. Among premutation carriers, RewP difference score (win versus loss) was reduced. These preliminary finding suggest that the FMR1 premutation may confer increased risk for depression in part through abnormal neural sensitivity to rewards.

2.
Front Psychiatry ; 15: 1352881, 2024.
Article in English | MEDLINE | ID: mdl-38707621

ABSTRACT

Introduction: Children with neurogenetic syndromes commonly experience significant and pervasive sleep disturbances, however, associations with caregiver mental health remains unclear. Previous studies have linked sleep disturbances with increased caregiver depression in typically developing populations, and heightened caregiver stress among neurogenetic populations. The present study expands on findings by exploring the longitudinal association between child sleep duration and caregiver mental health (depression, anxiety, stress) throughout development (infancy to school-aged children) in dyads with and without a child affected by a neurogenetic syndrome. Methods: Participants were drawn from the Purdue Early Phenotype Study, including 193 caregivers (Age: M = 34.40 years, SD = 4.53) of children with neurogenetic syndromes (Age: M = 40.91 months, SD =20.72) and typically developing children (n = 55; Age: M = 36.71 months, SD = 20.68). Children in the neurogenetic group were diagnosed with Angelman (n = 49), Prader Willi (n = 30), Williams (n = 51), and Fragile X (n = 8) syndromes. Caregivers completed assessments every six months up to child age three, and annual assessments thereafter. Child sleep duration was measured using the Brief Infant Sleep Questionnaire, and caregiver internalizing symptoms were assessed using the Depression, Anxiety, Stress Scale. Multilevel models were conducted to examine caregiver depression, anxiety, and stress in relation to child sleep duration at both between- and within-person levels, with child age as a moderator. Results: Results indicated a between-person effect of child sleep duration on caregiver depression (i.e., differences between families) and a within-person effect on caregiver stress (i.e., change over time) in the full, combined sample. These effects were not maintained when examined separately in neurogenetic and typically developing groups, except for a between-person effect on caregiver stress in the typically developing cohort. Moderating effects of child age were significant for depression and stress only in the typically developing cohort. Discussion: In summary, persistent child sleep disruptions were linked to exacerbated caregiver depression across the sample, while acute child sleep disruptions exacerbate caregiver stress within dyads over time. These findings emphasize the importance of addressing child sleep to enhance caregiver wellbeing and has potential relevance for a wide range of neurogenetic syndromes.

3.
Am J Intellect Dev Disabil ; 129(3): 175-190, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38657964

ABSTRACT

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.


Subject(s)
Angelman Syndrome , Hyperphagia , Prader-Willi Syndrome , Humans , Child, Preschool , Male , Female , Prader-Willi Syndrome/diagnosis , Child , Angelman Syndrome/physiopathology , Angelman Syndrome/diagnosis
4.
Front Psychiatry ; 15: 1355970, 2024.
Article in English | MEDLINE | ID: mdl-38463432

ABSTRACT

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.

5.
Transl Psychiatry ; 13(1): 389, 2023 Dec 14.
Article in English | MEDLINE | ID: mdl-38097538

ABSTRACT

Narrative reviews have described various resting-state EEG power differences in autism across all five canonical frequency bands, with increased power for low and high frequencies and reduced power for middle frequencies. However, these differences have yet to be quantified using effect sizes and probed robustly for consistency, which are critical next steps for clinical translation. Following PRISMA guidelines, we conducted a systematic review of published and gray literature on resting-state EEG power in autism. We performed 10 meta-analyses to synthesize and quantify differences in absolute and relative resting-state delta, theta, alpha, beta, and gamma EEG power in autism. We also conducted moderator analyses to determine whether demographic characteristics, methodological details, and risk-of-bias indicators might account for heterogeneous study effect sizes. Our literature search and study selection processes yielded 41 studies involving 1,246 autistic and 1,455 neurotypical individuals. Meta-analytic models of 135 effect sizes demonstrated that autistic individuals exhibited reduced relative alpha (g = -0.35) and increased gamma (absolute: g = 0.37, relative: g = 1.06) power, but similar delta (absolute: g = 0.06, relative: g = 0.10), theta (absolute: g = -0.03, relative: g = -0.15), absolute alpha (g = -0.17), and beta (absolute: g = 0.01, relative: g = 0.08) power. Substantial heterogeneity in effect sizes was observed across all absolute (I2: 36.1-81.9%) and relative (I2: 64.6-84.4%) frequency bands. Moderator analyses revealed that age, biological sex, IQ, referencing scheme, epoch duration, and use of gold-standard autism diagnostic instruments did not moderate study effect sizes. In contrast, resting-state paradigm type (eyes-closed versus eyes-open) moderated absolute beta, relative delta, and relative alpha power effect sizes, and resting-state recording duration moderated relative alpha power effect sizes. These findings support further investigation of resting-state alpha and gamma power as potential biomarkers for autism.


Subject(s)
Attention Deficit Disorder with Hyperactivity , Autism Spectrum Disorder , Autistic Disorder , Humans , Electroencephalography , Autism Spectrum Disorder/diagnosis , Attention Deficit Disorder with Hyperactivity/diagnosis , Autistic Disorder/diagnosis
6.
Am J Intellect Dev Disabil ; 128(6): 425-448, 2023 11 01.
Article in English | MEDLINE | ID: mdl-37875276

ABSTRACT

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.


Subject(s)
Angelman Syndrome , Speech , Humans , Child , Reproducibility of Results
7.
Dev Psychol ; 59(2): 207-215, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36066871

ABSTRACT

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).


Subject(s)
Health Status , Models, Statistical , Child , Humans , Longitudinal Studies
8.
Adv Neurodev Disord ; 6(4): 549-566, 2022.
Article in English | MEDLINE | ID: mdl-36160311

ABSTRACT

Objectives : Young children with Angelman syndrome have significant delays in expressive communication. Parents of children with Angelman syndrome require training to support their child's communication development. Unfortunately, parent training focused on the needs of families of children with rare genetic syndromes is unavailable to many families. The purpose of this study was to evaluate a telehealth parent training program on naturalistic communication intervention for young children with Angelman syndrome. Methods: Using two single-case multiple baseline designs across a total of six parent-child dyads, we evaluated the effects of a telehealth parent training program on parent implementation fidelity of a naturalistic communication intervention, child communication, and child engagement. Results: With the telehealth parent training program, parent implementation fidelity of naturalistic communication intervention improved, maintained and generalized to untrained home routines. Small effects on child communication and engagement were observed during the program. Conclusions: Parents of children with Angelman syndrome were successfully taught via telehealth to implement a naturalistic communication intervention with their child at home. Additional research is needed to promote positive child communication outcomes through parent-mediated intervention.

9.
Dev Psychobiol ; 63(8): e22211, 2021 12.
Article in English | MEDLINE | ID: mdl-34813105

ABSTRACT

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.


Subject(s)
Facial Recognition , Mothers , Adult , Electroencephalography/methods , Evoked Potentials , Female , Humans , Infant , Pattern Recognition, Visual , Photic Stimulation/methods , Reproducibility of Results
10.
Curr Dev Nutr ; 5(9): nzab112, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34611574

ABSTRACT

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.

11.
Biol Psychol ; 166: 108207, 2021 11.
Article in English | MEDLINE | ID: mdl-34662674

ABSTRACT

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.


Subject(s)
Names , Heart , Heart Rate , Humans , Infant , Reproducibility of Results
12.
Res Dev Disabil ; 115: 104002, 2021 Aug.
Article in English | MEDLINE | ID: mdl-34147945

ABSTRACT

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.


Subject(s)
Autism Spectrum Disorder , COVID-19 , Autism Spectrum Disorder/epidemiology , Child , Food Security , Food Supply , Humans , Income , Pandemics , SARS-CoV-2 , United States/epidemiology
13.
J Speech Lang Hear Res ; 64(7): 2401-2416, 2021 07 16.
Article in English | MEDLINE | ID: mdl-34098723

ABSTRACT

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.


Subject(s)
Citizen Science , Language Development Disorders , Big Data , Child, Preschool , Humans , Language Development , Language Development Disorders/diagnosis , Speech
14.
Res Dev Disabil ; 109: 103834, 2021 Feb.
Article in English | MEDLINE | ID: mdl-33360964

ABSTRACT

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.


Subject(s)
Child Behavior Disorders , Williams Syndrome , Checklist , Child , Child Behavior , Child Behavior Disorders/diagnosis , Factor Analysis, Statistical , Humans , Infant , Williams Syndrome/diagnosis
16.
Am J Intellect Dev Disabil ; 125(6): 418-433, 2020 11 01.
Article in English | MEDLINE | ID: mdl-33211819

ABSTRACT

Intellectual disability (ID) is defined by impairments in intellectual and adaptive functioning. As such, tools designed to assess these domains would theoretically be ideal outcome measures for treatment trials targeting core symptoms of ID. However, measures of intellectual and adaptive functioning have rarely been used as primary outcome measures to date and further study is needed regarding their usefulness to measure change. This area of inquiry is important because promising, mechanism-modifying treatments for conditions leading to ID are being initiated. To show efficacy, these treatments need to demonstrate an impact on core features of ID. After reviewing literature on this topic, we suggest solutions to several problems outlined, including use of out-of-age-range testing, alternative metrics, and development of new measures.


Subject(s)
Intellectual Disability/diagnosis , Intellectual Disability/therapy , Outcome Assessment, Health Care , Humans , Outcome Assessment, Health Care/methods , Outcome Assessment, Health Care/standards
17.
Front Psychol ; 11: 1634, 2020.
Article in English | MEDLINE | ID: mdl-32849001

ABSTRACT

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.

18.
Article in English | MEDLINE | ID: mdl-32661519

ABSTRACT

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.

19.
J Neurodev Disord ; 12(1): 16, 2020 06 05.
Article in English | MEDLINE | ID: mdl-32503425

ABSTRACT

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.


Subject(s)
Angelman Syndrome/psychology , Generalization, Psychological , Prader-Willi Syndrome/psychology , Psychometrics/standards , Williams Syndrome/psychology , Analysis of Variance , Child, Preschool , Communication , Female , Humans , Infant , Longitudinal Studies , Male , Reproducibility of Results , Risk
20.
Article in English | MEDLINE | ID: mdl-32107166

ABSTRACT

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.


Subject(s)
Frontal Lobe , Mothers , Adult , Electroencephalography , Female , Humans , Infant , Reproducibility of Results
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