John Sideris PhD

Sensory-based subtypes among autistic children have been well documented, but little is known about longitudinal sensory subtypes beyond autistic populations. This prospective study aimed to identify subtypes based on trajectories of parent-reported sensory features measured at 6–19 months, 3–4, and 6–7 years of age among a community-based birth cohort (N = 1,517), and to examine their associations with school-age clinical and adaptive/maladaptive outcomes on a subset sample (N = 389). Latent class growth analysis revealed five trajectory subtypes varying in intensity and change rates across three sensory domains. In contrast to an Adaptive-All Improving subtype (35%) with very low sensory features and overall better school-age outcomes, an Elevated-All Worsening subtype (3%), comprised of more boys and children of parents with less education, was associated with most elevated autistic traits and poorest adaptive/maladaptive outcomes. Three other subtypes (62% in total) were generally characterized by stable or improving patterns of sensory features at mild to moderate levels, and challenges in certain outcome domains. Our findings indicate that characterizing children based on early sensory trajectories may contribute to earlier detection of subgroups of children with sensory challenges who are more likely to experience developmental challenges by school age, followed by early targeted interventions for improved long-term outcomes.

Keywords. autism, community sample, latent-class trajectory, school-age outcomes, sensory features

Infants at elevated likelihood of developing autism display differences in sensory reactivity, especially hyporeactivity, as early as 7 months of age, potentially contributing to a developmental cascade of autism symptoms. Caregiver responsiveness, which has been linked to positive social communication outcomes, has not been adequately examined with regard to infant sensory reactivity. This study examined the multiplicative impact of infant sensory hypo- and hyperreactivity on caregiver responsiveness to sensory reactivity and regulation cues in 43 infants at elevated likelihood of autism. Sensory hyperreactivity was found to moderate the association between sensory hyporeactivity and caregiver responsiveness, such that caregivers of infants with moderately high sensory hypo- and hyperreactivity demonstrated higher responsiveness.

Keywords. Early risk signs; Sensory reactivity; Caregiver responsiveness; Community sample

Background. Type 1 diabetes (T1D) is a chronic condition affecting nearly 1.9 million people in the United States. Young adults (YAs) with T1D face unique challenges in managing their condition, experiencing poorer health and well-being than other age groups. The current study is evaluating the Resilient, Empowered, Active Living (REAL) intervention, previously shown to improve glucose levels and quality of life among YAs with diabetes, using telehealth delivery (REAL-T) to expand reach and accessibility. This paper reports on the methodology and baseline participant characteristics of the REAL-T study.

Methods. REAL-T is a two-arm randomized controlled trial that recruited 18–30 year olds with T1D via clinics and social media advertising. Data collection, which was adapted to be fully remote due to COVID-19, occurs every three months for one year. Participants receive either usual care or a 6-month telehealth occupational therapy intervention. The primary outcome is glycated hemoglobin (A1c); secondary outcomes include diabetes distress, quality of life, and continuous glucose monitor-derived measures.

Results. The study enrolled a diverse sample of 209 YAs with T1D. Analysis of baseline data indicates equivalence between the intervention and control groups. Study participants have notably higher diabetes distress and poorer mental well-being than similar populations.

Conclusion. The REAL-T study successfully adapted to remote implementation during the COVID-19 pandemic. By examining long-term outcomes, mediating pathways, and cost-effectiveness, the study will contribute knowledge of the impact of tailored interventions for YAs with T1D, designed to reduce disparities and improve health and well-being in this population.

Telehealth delivery of Lifestyle Redesign®, an occupational therapy intervention framework addressing health and quality of life among people with chronic conditions, is understudied. The objective of this study was to evaluate the effectiveness, satisfaction, and engagement of telehealth Lifestyle Redesign for young adults with diabetes. Using process data from two randomized controlled trials, we compared in-person and telehealth intervention effects. Among telehealth clients, effectiveness was assessed using pre-post changes in occupational performance, occupational satisfaction, and health management; a survey captured telehealth satisfaction. Attendance and engagement in in-person versus telehealth therapy were compared. Preliminary results indicate telehealth clients had significant increases in occupational performance, occupational satisfaction, and health management (all p < .02), and high levels of telehealth satisfaction. Intervention engagement (p = .59) and attendance (p = .42) were similar across treatment modalities. Telehealth delivery of Lifestyle Redesign occupational therapy is feasible and potentially efficacious, and continued advocacy is needed to ensure access to occupational therapy through telehealth.

Importance. Limited research has elucidated factors predicting occupational therapy–specific service utilization by children with autism. Such research is needed to inform reasons for receipt of services.

Objective. To examine factors associated with occupational therapy service utilization by children with autism. We hypothesized that elevated sensory hyperresponsiveness; greater sensory interests, repetitions, and seeking; and lower adaptive behavior would predict more service utilization.

Design. Analysis of extant data from a prospective, longitudinal survey study about autism symptom severity, adaptive behavior, sensory features, and demographic and service utilization information of children with autism ages 3 to 13 yr.

Setting. Online parent survey regarding child behaviors during daily activities and contexts.

Participants. 892 parents of children with autism from 50 U.S. states.

Outcomes and Measures. We used scores on the Vineland Adaptive Behavior Scale–Second Edition, the Social Responsiveness Scale, and the Sensory Experiences Questionnaire Version 3.0 and responses to a demographic questionnaire. We formulated hypotheses after data collection but before analysis.

Results. Predictors of higher occupational therapy service utilization were lower enhanced perception; lower adaptive behavior; elevated sensory interests, repetitions, and seeking behaviors; younger child age; and higher household income.

Conclusion and Relevance. Results partially support our hypotheses. Sensory interests, repetitions, and seeking behavior predicted occupational therapy service utilization, whereas other sensory response patterns did not, suggesting a possible referral bias for certain sensory response patterns. Occupational therapy practitioners can educate parents and teachers about the scope of practice, which includes addressing sensory features beyond sensory interests, repetitions, and seeking behaviors.

Keywords. autistic disorder, child, adaptive behavior

Background. Atypical sensory processing impacts children with intellectual and developmental disabilities (IDD). Research has focused on SP in individuals with autism spectrum disorder (ASD); comparatively, little has been written regarding individuals with Down syndrome (DS) and IDDs.

Aims. We compared patterns of sensory processing in children with DS to children with ASD, other IDDs, and typically developing (TD) peers examining the relationship among different sensory processing measures.

Methods and procedures. We analyzed cross-sectional data using two caregiver questionnaires (SP, SEQ) and one observational measure (SPA). Groups were compared on three sensory processing patterns: hyporesponsiveness; hyperresponsiveness; and sensory interests, repetitions, and seeking (SIRS) via ANOVA. We assessed concordance through correlations.

Outcomes and results. Children with DS, IDD, and ASD demonstrated more atypical sensory processing behaviors than TD peers. Children with ASD exhibited the most atypical responses across all measures, significantly more than DS children on all but one subscale. The IDD and DS groups differed on several measures. Measurement concordance was higher between caregiver-report versus observational assessment.

Conclusions and implications. Differences between three clinical groups indicate that sensory processing features may differ across clinical populations regardless of cognitive functioning. Lower concordance between caregiver-report and observation measures highlights the need to understand sensory processing expression across different tasks and environments.

Baseline child characteristics may predict treatment outcomes in children with or at elevated likelihood of developing autism (EL-ASD). Little is known about the role of child sensory and language features on treatment outcome. Participants were randomly assigned to a parent-mediated intervention or control condition. Analyses explored the relationship between baseline child sensory and language characteristics and changes in ASD symptoms over approximately 9 months. Higher baseline sensory hyporeactivity was significantly related to less improvement in social communication (SC) for the treatment group only. More baseline atypical vocalizations were significantly related to less improvement on SC across treatment and control groups. This work provides an initial framework to encourage the tailoring of interventions for EL-ASD children, suggesting sensory reactivity and atypical vocalizations may be useful behaviors to consider in treatment planning.

This prospective study examined the latent growth trajectories of sensory patterns among a North Carolina birth cohort (N = 1517; 49% boys, 87% White) across infancy (6–19 months), preschool (3–4 years), and school years (6–7 years). Change rates of sensory hyper- and hyporesponsiveness better differentiated children with an autism diagnosis or elevated autistic traits from those with other developmental conditions, including non-autistic children with sensory differences. More sensory hyper- and hyporesponsiveness at infancy followed by steeper increases differentially predicted more autistic traits at school age. Further, children of parents with higher education tended to show stable or improving trajectories. These findings highlight the importance of tracking sensory patterns from infancy for facilitating early identification of associated challenges and tailored support for families.

Importance. Although three sensory factors (hyperresponsiveness [HYPO]; hyporesponsiveness [HYPER]; and sensory interests, repetitions, and seeking behaviors [SIRS]) have been demonstrated among a wide age range of clinical populations, they have not been well validated in the general population, especially with a large community sample of young children.

Objective. To validate the factor structure of the Sensory Experiences Questionnaire (Version 2.1, Short Form; SEQv2.1) in a community sample and to confirm the factor structure’s existence in this sample.

Design. Caregivers completed the SEQv2.1, a parent-reported questionnaire designed to capture children’s everyday sensory experiences. The latent factors of the SEQv2.1 were examined using confirmatory factor analysis.

Setting. North Carolina.

Participants. Caregivers of 2,195 children age 3 yr were initially recruited through state birth records and were eligible to participate if the child did not have a history of serious medical problems and English was the family’s primary language.

Outcomes and Measures. SEQv2.1.

Results. The SEQv2.1 showed validity in the community sample. Similar to previous research with clinical populations, the three broad patterns of sensory responsiveness were also confirmed in this large community sample of young children, but associations among the factors differed.

Conclusions and Relevance. Validation of the three-sensory-factor structure in the general population suggests that these constructs are similar to those found with samples of participants with autism spectrum disorder and developmental disabilities. This finding underscores the importance of understanding the normative development of sensory features across a wider age range to better delineate qualitative differences underlying sensory features between clinical and general populations.

Keywords. child, systemic inflammatory response syndrome, autism spectrum disorder

Early detection of autism risk in the community is critical to increasing families' access to early intervention, yet few measures have been developed and tested for the general population of infants <16 months to tap a broader range of autism risk constructs. This study aimed to (a) examine the factor structure of the First Years Inventory, version 3.1 (FYIv3.1), with a sample of 6454 infants 6–16 months, and (b) determine the ability of the resulting factors to discriminate clinical outcome groups at 3 years of age. The FYIv3.1 is a parent-report tool designed to detect early behavioral risk signs that may be associated with a later diagnosis of ASD and related neurodevelopmental conditions. Factor analytic models were used to determine the number of constructs and inter-factor correlations. Findings supported a seven-factor structure: communication, imitation and play (CIP); social attention and affective engagement (SAE); sensory hyperresponsiveness (HYPER); sensory hyporesponsiveness (HYPO); self-regulation in daily routines (SREG); sensory interests, repetitions, and seeking behaviors (SIRS); motor coordination and milestones (MCM). Mean comparisons on these factors demonstrated significant discrimination of the three outcome groups at age 3 years including those classified as having an ASD diagnosis and/or high autism symptoms, those classified as having other developmental disorders/conditions/concerns, and those classified with no known conditions/concerns. These findings support the validity and multidimensionality of early ASD risk constructs, as well as the potential use of the FYIv3.1 for phenotypic subtyping in the general population, and early detection in a broader age range of 6–16 months in future clinical studies.

While student-run free clinic (SRFC) participation is well-documented among many health professions, no study has comprehensively characterized occupational therapy student participation. The purpose of this qualitative study was to understand both the current presence as well as educational impact of occupational therapy student participation in university-based SRFCs in the United States (U.S). Data collection occurred through a national survey and semi-structured interviews. Surveys were sent to representatives (e.g. program directors, faculty advisors, and student leaders) at all 190 accredited occupational therapy schools. Of these, 118 responded, for an overall response rate of 62.1%. Semi-structured interviews were conducted with a purposeful sample of physician’s assistant, medical, pharmacy, and occupational therapy students (N=9). Results showed that 12.7% of schools contributed volunteers to at least one SRFC (N=15). Themes included that occupational therapy students provided a unique perspective to the interprofessional team, educated other students about occupational therapy’s scope, and demonstrated strong patient interviewing skills. They also learned from opportunities to explore future career possibilities, engage in interdisciplinary teamwork, and practice skills in a safe space. Occupational therapy programs have a relatively low rate of participation (12.7%) in SRFCs compared to other health professions nationally. However, occupational therapy and other health professional students report that occupational therapy student participation creates important educational opportunities. These opportunities may strengthen occupational therapy’s role in interprofessional team-based care, especially within the emerging practice area of primary care.

Difficulty processing sensory information may impede progress in school for students with autism spectrum disorder (ASD). We explore the relationship between sensory processing and school performance in 26 high‐functioning youths with ASD and 26 controls (age 8–14) using measures of sensory, social, cognitive, and academic functioning. In the ASD group, bivariate Pearson correlations indicated a significant positive relationship between intelligence quotient (IQ) and the School Competence Scale (SCS) of the Child Behavior Checklist (CBCL), and a significant negative relationship between Dunn's Sensory Processing Framework and SCS scores. Final hierarchical multiple linear regression model accounting for SCS scores in ASD included IQ, ADHD symptoms, and sensory features. An interaction between increased sensory sensitivity with reduced sensory avoidance behaviors explained the greatest amount of variance in SCS, meaning school performance is lowest for children with greater hypersensitivity and fewer avoidance behaviors. Results indicate a strong impact of sensory processing on school performance in ASD.

Sensory-processing challenges are measured by caregiver report and clinician observation and affect many people with autism spectrum disorder and their caregivers. It is unclear how caregiver stress influences the correlation between scores on caregiver reports and observational measures. The present analysis explored correlations between two formats of tools to assess sensory processing and indicated that caregiver stress moderates the association between sensory-seeking scores on the measures.

Prior research on the stability of sensory processing problems in children with autism spectrum disorder (ASD) or other developmental disabilities (DD) has produced inconsistent results. We employed a longitudinal study design to assess the stability of three clinical sensory response patterns: hyporesponsiveness; hyperresponsiveness; and sensory interests, repetitions, and seeking behaviors (SIRS). Parents of children with ASD (n = 55) or DD (n = 35) responded to sensory questionnaires at two time points (T1 and T2) separated by 3.3 years on average, with the children aged 2–12 years (M = 5.69 ± 2.46) at the first assessment. For each sensory response pattern, regression analysis revealed that, for both ASD and DD groups, scores at T1 were strong predictors of scores at T2. Over the longitudinal assessment interval, there was a significant mean decline in severity for SIRS in both groups and for hyporesponsiveness in the ASD group. Parental estimates of the amount of therapy services received were positively associated with the severity of sensory features at T2, an outcome that may result from increased intervention dosages being administered to children who fail to improve over time. The results are discussed in terms of person‐centered and environmental considerations, which, in combination, have the capacity to affect stability outcomes for sensory features.

IMPORTANCE: A recent reanalysis of data from the Well Elderly (WE) 2 study purportedly indicated that the intervention did not achieve clinically meaningful or statistically significant effects; this article addresses these criticisms.

OBJECTIVE: To contextualize the WE 2 study as targeting a nonclinical population and demonstrate that the intervention produced substantively important, statistically significant effects.

DESIGN: Secondary analysis of WE 2 intervention-based pre–post change scores.

SETTING: The original trial occurred primarily in senior centers and senior housing facilities in greater Los Angeles.

PARTICIPANTS: Independent-living older adults (N = 324) who were assessed before and after intervention.

INTERVENTION: The WE intervention, a version of the Lifestyle Redesign® (LR) approach, was administered by occupational therapists over 6 mo by means of group and individual sessions.

OUTCOMES AND MEASURES: The 36-item Short Form Health Survey, the Life Satisfaction Index–Z, and the Center for Epidemiologic Studies Depression Scale.

RESULTS: The WE intervention was associated with statistically significant improvement on 10 of 12 outcome variables that were examined.

CONCLUSIONS AND RELEVANCE: Because the WE intervention was hypothesized to reduce age-related decline and followed a population-oriented approach, the expectation that average results would be clinically meaningful was inappropriate. The intervention produced positive effects across a wide array of outcome domains. In settings in which clinical meaningfulness is an appropriate index of intervention outcomes, evidence suggests that LR produces effects that are clinically meaningful. As an evidence-based intervention, LR should be considered useful both in population-oriented contexts and in addressing discrete health conditions.

WHAT THIS ARTICLE ADDS: Valid analyses demonstrate that the positive experimental effects of the WE 2 study are, in fact, genuine and cost-effective, and LR in clinically oriented contexts has produced statistically significant, clinically meaningful results. Clearly and accurately representing the evidence base of occupational therapy in prevention and chronic care is of critical importance to advance the field as a whole.

IMPORTANCE: Children with autism spectrum disorder (ASD) and other developmental disabilities (DD) commonly display unusual responses to sensory input. Previous work has suggested concurrent associations linking sensory features with aspects of family functioning, including activity participation and caregiver strain. What is unknown, however, is the extent to which sensory features affect family functioning over time, as well as the influence of received services on these relationships.

OBJECTIVE: To assess hypothesized longitudinal associations between sensory features and family functioning and examine interactions by group and service usage (i.e., educational and therapy services).

DESIGN: Multigroup longitudinal observational study.

SETTING: Community.

PARTICIPANTS: A volunteer sample of 81 children (50 with ASD, 31 with DD; 76% male), ages 2-12 yr, and their caregivers participated in assessments at two points, 3.3 yr apart on average.

OUTCOMES AND MEASURES: Key measures included the Sensory Experiences Questionnaire, Sensory Profile, Sensory Processing Assessment for Young Children, Tactile Defensiveness and Discrimination Test-Revised, Caregiver Strain Questionnaire, and Home and Community Activities Scale. We also measured the amount of time children received educational and therapy services.

RESULTS: Regression analyses confirmed long-term associations linking sensory features with aspects of activity participation and caregiver strain in this population; group and service usage interactions were also identified.

CONCLUSIONS AND RELEVANCE: Sensory features can affect the everyday experiences of both children and caregivers. It is important for practitioners to understand the potentially enduring effects of children's sensory features on family functioning so as to begin to identify supportive interventions with more optimal long-term effects.

Background. Children with autism spectrum disorder (ASD) and other developmental disabilities (DD) exhibit sensory features that differ from their typically developing peers. Prior cross-sectional research has demonstrated significant associations between elevated sensory features and lower adaptive behavior scores, yet there is limited prospective research examining longitudinal associations.

Aims. To examine the longitudinal prediction of early sensory response patterns (i.e., hyperresponsiveness, hyporesponsiveness, and sensory interests, repetitions, and seeking behaviors) to later adaptive behavior outcomes in children with ASD and DD.

Methods and procedures. Children with ASD (n = 51) and DD (n = 30) were seen at two time points (Time 1: M(SD) = 5.6(2.5) years; Time 2: M(SD) = 9.0(2.2) years). We used a series of regression models with both observational and parent-report measures of sensory response patterns, and including group interactions.

Outcomes and results. All three sensory response patterns significantly predicted aspects of adaptive behaviors, with some differences based on assessment format and diagnostic group. Across groups and sensory patterns, we found some evidence that elevated sensory features early in childhood predicted lower adaptive behavior skills later in childhood.

Conclusions and implications. Sensory features may interfere with development of adaptive behaviors, suggesting a need for effective interventions addressing sensory features early in development.

Keywords. Autism; Child development disorders; Longitudinal analysis; Sensory processing; Adaptive behaviors

The advancing social-communication and play (ASAP) intervention was designed as a classroom-based intervention, in which the educational teams serving preschool-aged children with autism spectrum disorder are trained to implement the intervention in order to improve these children’s social-communication and play skills. In this 4-year, multi-site efficacy trial, classrooms were randomly assigned to ASAP or a business-as-usual control condition. A total of 78 classrooms, including 161 children, enrolled in this study. No significant group differences were found for the primary outcomes of children’s social-communication and play. However, children in the ASAP group showed increased classroom engagement. Additionally, participation in ASAP seemed to have a protective effect for one indicator of teacher burnout. Implications for future research are discussed.

Keywords. Autism spectrum disorder; ASAP; Randomized controlled trial; School interventions; Engagement; Social-communication

Evidence suggests that oral narrative skills are a linguistic strength for African American children, yet few studies have examined how these skills are associated with reading for African American boys and girls. The current study uses longitudinal data of a sample of 72 African American 4-year-olds to examine how preschool oral narrative skills predict reading from first through sixth grades and explores differences by gender. Findings indicate that although girls demonstrated stronger narrative skills, their narrative skills did not moderate change in reading. For boys, narrative skills moderated change in reading over time such that as preschool narrative skills increased, their reading scores showed greater change over time. Educational implications and directions for future research are discussed.

The primary aim of this study was determining Grade 1 cognitive predictors of students at risk for writing disabilities in Grades 2 through 4. Applying cognitive measures selected to align with theoretical and empirical models of writing, tasks were administered to Grade 1 students assessing fine-motor, linguistic, and executive functions: 84 at risk (bottom quartile for age-base expectations) and 54 typically developing. A model with individual predictors was compared to a previously developed latent trait model to determine the relative predictive worth of each approach. Data analysis primarily involved stepwise logistic regression. Results revealed that the individual measures of orthographic choice, working memory, inhibitory control, visual memory recognition, and planning all were significant predictors of at risk status in Grades 2 through 4. The latent trait model also fared well but did not account for the same amount of variance as any of the individual measurement models for any of the grades. The findings lay the foundation for an empirically based approach to cognitive assessment in Grade 1 for identifying potential at-risk students in later elementary grades and suggest potential underlying neurocognitive abilities that could be employed with educational interventions for students with later-emerging writing disabilities.

The purpose of this study was to examine the psychometric properties of the Autism Program Environment Rating Scale (APERS), an instrument designed to assess quality of program environments for students with autism spectrum disorder. Data sets from two samples of public school programs that provided services to children and youth with autism spectrum disorder were utilized. Cronbach alpha analyses indicated high coefficients of internal consistency for the total APERS and moderate levels for item domains for the first data set, which was replicated with the second data set. A factor analysis of the first data set indicated that all domain scores loaded on one main factor, in alignment with the conceptual model, with this finding being replicated in the second data set. Also, the APERS was sensitive to changes resulting from a professional development program designed to promote program quality.

A randomized controlled trial was conducted to evaluate effects of the Joint Attention Mediated Learning (JAML) intervention. Toddlers with autism spectrum disorders (ASD) aged 16–30 months (n = 144) were randomized to intervention and community control conditions. Parents, who participated in 32 weekly home-based sessions, followed a mediated learning process to target preverbal social communication outcomes (social visual synchrony, reciprocity, and responding and initiating forms of joint attention) throughout daily interactions. The analysis found post-intervention effects for all outcomes, with all except initiating joint attention sustaining 6 months post-intervention. Findings support the value of very early intervention targeting explicitly social functions of preverbal communication and of promoting active engagement in the learning process for both toddlers and parents.

Adolescents with autism spectrum disorder have limited participation in the transition planning process, despite the link between active participation and an improvement in postsecondary education and employment outcomes. The Secondary School Success Checklist was designed to support transition planning for adolescents with autism spectrum disorder by incorporating their own assessments of strengths, skill deficits, and prioritization for instruction along with those of their parents and teachers across multiple skill domains. Findings from more than 500 adolescents with autism spectrum disorder across the United States indicate discrepancies between adolescent, teacher, and parent ratings of skills highlighting the importance of the inclusion of multiple perspectives in transition planning. Although ratings varied, agreement between adolescents with autism spectrum disorder, parents, and teachers across the highest and lowest rated skills suggests the need to broaden the focus on critical transition skills to include problem-solving, planning for life after high school, and self-advocacy.

Theoretically, interventions initiated with at-risk infants prior to the point in time a definitive autism spectrum disorder (ASD) diagnosis can be made will improve outcomes. Pursuing this idea, we tested the efficacy of a parent-mediated early intervention called Adapted Responsive Teaching (ART) via a randomized controlled trial with 87 one-year-olds identified by community screening with the First Year Inventory as at-risk of later ASD diagnoses. We found minimal evidence for main effects of ART on child outcomes. However, ART group parents showed significantly greater increases in responsiveness to their infants than control group parents. Further, significant indirect (mediation) effects of assignment group on multiple child outcomes through changes in parent responsiveness supported our theory of change.

Genetic liability to autism spectrum disorder (ASD) can be expressed in unaffected relatives through subclinical, genetically meaningful traits, or endophenotypes. This study aimed to identify developmental endophenotypes in parents of individuals with ASD by examining parents' childhood academic development over the school-age period. A cohort of 139 parents of individuals with ASD were studied, along with their children with ASD and 28 controls. Parents' childhood records in the domains of language, reading, and math were studied from grades K-12. Results indicated that relatively lower performance and slower development of skills (particularly language related skills), and an uneven rate of development across domains predicted ASD endophenotypes in adulthood for parents, and the severity of clinical symptoms in children with ASD. These findings may mark childhood indicators of genetic liability to ASD in parents, that could inform understanding of the subclinical expression of ASD genetic liability.

Parent responsiveness is critical for child development of cognition, social-communication, and self-regulation. Parents tend to respond more frequently when children at-risk for autism spectrum disorder (ASD) demonstrate stronger social-communication; however, it is unclear how responsiveness is associated with sensory characteristics of children at-risk for ASD. To address this issue, we examined the extent to which child social-communication and sensory reactivity patterns (i.e., hyper- and hypo-reactivity) predicted parent responsiveness to 1-year-olds at-risk for ASD in a community sample of 97 parent-infant pairs. A combination of child social-communication and sensory hypo-reactivity consistently predicted how parents played and talked with their 1-year-old at-risk for ASD. Parents tended to talk less and use more play actions when infants communicated less and demonstrated stronger hypo-reactivity.

Sensory features are prevalent and heterogeneous across children with ASD and these features have been associated with child outcomes. Identification of clinically defined sensory subtypes may enhance our understanding of unique phenotypes that have implications for etiology, prognosis, and intervention. This longitudinal study used a national online survey aimed to identify associations of previously validated sensory subtypes to specific child and family characteristics and functional outcomes [Vineland Adaptive Behavior Scale-II (VABS) and Parenting Stress Index short form (PSI)]. The sensory experiences questionnaire-3.0 was collected from caregivers with children with ASD, ages 2-12, at two time points (Time 1, n = 1307, Time 2, n = 884), 1 year apart. Functional outcomes assessments were collected at the second time point. A latent profile transition analysis (LPTA) was used to test associations, and results indicated that the attenuated-preoccupied subtype presented with the significantly lowest levels of VABS adaptive behavior composite scores compared to the other three sensory subtypes. Both the VABS maladaptive behavior index and the total PSI score were significantly highest in the extreme-mixed subtype. These results underscore the clinical utility of this subtyping approach for differentiating characteristics and functional outcomes associated with clinically defined sensory phenotypes. These findings may have implications for better understanding etiology, prognosis, and more precise targets for interventions designed to ameliorate sensory difficulties, and ultimately mitigate negative developmental consequences and parenting stress.

Background. Emerging evidence suggests that a subset of FMR1 premutation carriers is at an increased risk for cognitive, emotional, and medical conditions. However, because the premutation is rarely diagnosed at birth, the early developmental trajectories of children with a premutation are not known.

Methods. This exploratory study examined the cognitive, communication, and social-behavioral profiles of 26 infants with a premutation who were identified through participation in a newborn screening for fragile X syndrome pilot study. In this study, families whose newborn screened positive for an FMR1 premutation were invited to participate in a longitudinal study of early development. Twenty-six infants with the premutation and 21 matched, screen-negative comparison babies were assessed using validated standardized measures at 6-month intervals starting as young as 3 months of age. The babies were assessed up to seven times over a 4-year period.

Results. The premutation group was not statistically different from the comparison group on measures of cognitive development, adaptive behavior, temperament, or overall communication. However, the babies with the premutation had a significantly different developmental trajectory on measures of nonverbal communication and hyperresponsivity to sensory experiences. They also were significantly more hyporesponsive at all ages than the comparison group. Cytosine-guanine-guanine repeat length was linearly associated with overall cognitive development.

Conclusions. These results suggest that infants with a premutation may present with subtle developmental differences as young as 12 months of age that may be early markers of later anxiety, social deficits, or other challenges thought to be experienced by a subset of carriers.

Toddlers with autism spectrum disorder (ASD) were assessed on the Repetitive Behavior Scale-Revised (RBS-R), which we found to have acceptable internal consistency. Stereotypical subscale scores showed a negligible association with cognitive level, but correlated more strongly with adaptive and social indicators. Relative to earlier reported RBS-R scores for older age groups, toddlers' scores trended toward higher stereotyped behavior and lower ritualistic/sameness behavior. Our findings on associations with developmental indicators align with those of researchers who used more resource-intensive repetitive behavior measures. The convergence of these findings with those derived from other measurement methods suggests that the RBS-R, a cost effective parent-report measure, is a viable means of assessing repetitive behavior in toddlers with autism.

Sensory features are highly prevalent among children with autism spectrum disorders (ASD) and have been shown to cluster into four patterns of response, including hyperresponsiveness, hyporesponsiveness, enhanced perception, and sensory interests, repetitions and seeking behaviors. Given the lack of large-scale research on the differential effects of sensory response patterns on children's participation in specific activities, this study investigated the extent to which sensory response patterns impacted six dimensions of children's activity participation as measured by the Home and Community Activities Scale among a large, national sample of school aged children with ASD (n = 674). Using mixed model regression, results showed that sensory response patterns differentially impacted dimensions of activity participation, and associations were moderated by a number of child characteristics.

Objectives. The possibility of newborn screening for fragile X syndrome is complicated by the potential for identifying premutation carriers. Although knowing the child's carrier status has potential benefits, the possibility of late-onset disorders in carrier children and their parents raises concerns about whether such information would be distressing to parents and potentially more harmful than helpful. This study sought to answer this question by offering voluntary fragile X screening to new parents and returning results for both the full mutation and premutation FMR1 gene expansions. We tested the assumption that such information could lead to adverse mental health outcomes or decision regret. We also wanted to know if child age and spousal support were associated with the outcomes of interest.

Methods. Eighteen mothers of screen-positive infants with the premutation and 15 comparison mothers completed a battery of assessments of maternal anxiety, postpartum depression, stress, family quality of life, decision regret, and spousal support. The study was longitudinal, with an average of 3 assessments per mother.

Results. The premutation group was not statistically different from the comparison group on measures of anxiety, depression, stress, or quality of life. A subset of mothers experienced clinically significant anxiety and decision regret, but factors associated with these outcomes could not be identified. Greater spousal support was generally associated with more positive outcomes.

Conclusions. Although we did not find evidence of significant adverse events, disclosure of newborn carrier status remains an important consideration in newborn screening policy.

Despite the heterogeneous symptom presentation and complex etiology of major depressive disorder (MDD), functional neuroimaging studies have shown with remarkable consistency that dysfunction in mesocorticolimbic brain systems are central to the disorder. Relatively less research has focused on the identification of biological markers of response to antidepressant treatment that would serve to improve the personalized delivery of empirically supported antidepressant interventions. In the present study, we investigated whether resting-state functional brain connectivity (rs-fcMRI) predicted response to Behavioral Activation Treatment for Depression, an empirically validated psychotherapy modality designed to increase engagement with rewarding stimuli and reduce avoidance behaviors. Twenty-three unmedicated outpatients with MDD and 20 matched nondepressed controls completed rs-fcMRI scans after which the MDD group received an average of 12 sessions of psychotherapy. The mean change in Beck Depression Inventory-II scores after psychotherapy was 12.04 points, a clinically meaningful response. Resting-state neuroimaging data were analyzed with a seed-based approach to investigate functional connectivity with four canonical resting-state networks: the default mode network, the dorsal attention network, the executive control network, and the salience network. At baseline, the MDD group was characterized by relative hyperconnectivity of multiple regions with precuneus, anterior insula, dorsal anterior cingulate cortex (dACC), and left dorsolateral prefrontal cortex seeds and by relative hypoconnectivity with intraparietal sulcus, anterior insula, and dACC seeds. Additionally, connectivity of the precuneus with the left middle temporal gyrus and connectivity of the dACC with the parahippocampal gyrus predicted the magnitude of pretreatment MDD symptoms. Hierarchical linear modeling revealed that response to psychotherapy in the MDD group was predicted by pretreatment connectivity of the right insula with the right middle temporal gyrus and the left intraparietal sulcus with the orbital frontal cortex. These results add to the nascent body of literature investigating pretreatment rs-fcMRI predictors of antidepressant treatment response and is the first study to examine rs-fcMRI predictors of response to psychotherapy.

Background. Previous research has found accumulating evidence for atypical reward processing in autism spectrum disorders (ASD), particularly in the context of social rewards. Yet, this line of research has focused largely on positive social reinforcement, while little is known about the processing of negative reinforcement in individuals with ASD.

Methods. The present study examined neural responses to social negative reinforcement (a face displaying negative affect) and non-social negative reinforcement (monetary loss) in children with ASD relative to typically developing children, using functional magnetic resonance imaging (fMRI).

Results. We found that children with ASD demonstrated hypoactivation of the right caudate nucleus while anticipating non-social negative reinforcement and hypoactivation of a network of frontostriatal regions (including the nucleus accumbens, caudate nucleus, and putamen) while anticipating social negative reinforcement. In addition, activation of the right caudate nucleus during non-social negative reinforcement was associated with individual differences in social motivation.

Conclusions. These results suggest that atypical responding to negative reinforcement in children with ASD may contribute to social motivational deficits in this population.

Background. Sensory features are highly prevalent and heterogeneous among children with ASD. There is a need to identify homogenous groups of children with ASD based on sensory features (i.e., sensory subtypes) to inform research and treatment.

Methods. Sensory subtypes and their stability over 1 year were identified through latent profile transition analysis (LPTA) among a national sample of children with ASD. Data were collected from caregivers of children with ASD ages 2-12 years at two time points (Time 1 N = 1294; Time 2 N = 884).

Results. Four sensory subtypes (Mild; Sensitive-Distressed; Attenuated-Preoccupied; Extreme-Mixed) were identified, which were supported by fit indices from the LPTA as well as current theoretical models that inform clinical practice. The Mild and Extreme-Mixed subtypes reflected quantitatively different sensory profiles, while the Sensitive-Distressed and Attenuated-Preoccupied subtypes reflected qualitatively different profiles. Further, subtypes reflected differential child (i.e., gender, developmental age, chronological age, autism severity) and family (i.e., income, mother's education) characteristics. Ninety-one percent of participants remained stable in their subtypes over 1 year.

Conclusions. Characterizing the nature of homogenous sensory subtypes may facilitate assessment and intervention, as well as potentially inform biological mechanisms.

This national online survey study characterized sensory features in 1,307 children with autism spectrum disorder (ASD) ages 2-12 years using the Sensory Experiences Questionnaire Version 3.0 (SEQ-3.0). Using the SEQ-3.0, a confirmatory factor analytic model with four substantive factors of hypothesized sensory response patterns (i.e., hyporesponsiveness; hyperresponsiveness; sensory interests, repetitions and seeking behaviors; enhanced perception), five method factors of sensory modalities (i.e., auditory, visual, tactile, gustatory/olfactory, vestibular/proprioceptive), and one of social context were tested with good model fit. Child and family characteristics associated with the sensory response patterns were explored. The effect of sensory response patterns on autism severity was tested, controlling for key child and family characteristics. The SEQ-3.0 demonstrates an empirically valid factor structure specific to ASD that considers sensory response patterns, modalities, and social context.

Objective. The purpose of this study was to empirically derive dimensions of activity participation among a sample of school-age children with autism spectrum disorder (ASD; n = 713). Additionally, we examined the associations between dimensions of activity participation and child characteristics (i.e., chronological age, autism severity, gender) and family demographics (i.e., maternal education).

Methods. Exploratory factor analysis was used to determine the factors on the Home and Community Activities Scale (HCAS). Multiple regression was used to examine the extent to which child characteristics and family demographics were related to HCAS dimensions.

Results. A six-factor model best characterized activity participation among the school-age children with ASD, and child characteristics and family demographics were differentially associated with HCAS dimensions.

Conclusion. The findings have implications for how activities may be categorized for children with ASD and suggest that the frequency of specific activities is affected by child characteristics and maternal education.

Background. Fragile X syndrome (FXS) and Down syndrome (DS) are the two leading genetic causes of intellectual disability, and FXS is the most common known genetic condition associated with autism. Both FXS and DS are associated with significant language impairment, but little is known about expressive language across domains over time or the role of autism in language development in FXS.

Aims. To compare three domains of language production (vocabulary, syntax, pragmatics) over time within and across groups of boys with FXS with and without autism spectrum disorder (FXS-ASD, FXS-O), boys with DS, and typically developing (TD) boys.

Methods & Proceures. Twenty-nine boys with FXS-O, 40 boys with FXS-ASD, 34 boys with DS, and 48 younger TD boys of similar non-verbal mental age living in the United States participated in the study. The Antonyms, Syntax Construction and Pragmatic Judgment subtests of the Comprehensive Assessment of Spoken Language were administered annually over 3 years.

Outcomes & Results. TD boys scored higher than all other groups on all three subtests; boys with FXS-O and FXS-ASD scored higher than boys with DS in Syntax Construction; and boys with FXS-O scored higher than boys with FXS-ASD in Pragmatic Judgment. Within-group patterns varied between groups. Overall, the TD group showed significantly more change over time than all other groups.

Conclusions & Implications. Findings suggest that expressive language skills and growth across various domains are more impaired in boys with FXS and DS than would be expected based on non-verbal mental age, that for boys with DS syntax is more impaired than would be expected based on intellectual disability, and that autism status affects pragmatic language in boys with FXS. Findings suggest that language production across domains should be addressed during assessment and intervention for boys with FXS and boys with DS, with differing group profiles also suggesting potentially different areas of focus.

Objective. Circumstances surrounding parental availability and decision-making were examined in the setting of a research protocol involving newborn screening (NBS) for fragile X syndrome, in which the institutional review board (IRB) had determined that consent (permission) was required from both parents.

Methods. A survey was conducted with 3001 families who were approached to participate in optional NBS. In addition to basic demographics, observational notes detailed the reasons why fathers were not present or deemed "not reasonably available" (per IRB regulations), and content analysis identified the factors for this lack of availability. Logistic regression models estimated the likelihood that both parents would agree to enroll their infant in the screening project.

Results. Fathers were not present in 589 cases, including 158 in which fathers were ultimately determined to be not reasonably available. Primary reasons for father's unavailability were deployment with the military, incarceration, living out of state, or not involved in the mother's life. In cases in which both parents were available, 64% agreed to enroll in the NBS study. Criteria to guide researchers in making required determinations were developed from consultations with IRB officials and legal counsel.

Conclusions. In a large-scale population-based study, 19.6% of fathers were absent for the consent process. Scenarios encountered underscore the complexity of parental relations and their implications for obtaining consent for research involving children. The algorithm developed may serve as a useful tool for others in applying the regulatory requirements for dual parental permission.

Substantial phenotypic overlap exists between fragile X syndrome (FXS) and autism, suggesting that FMR1 (the gene causing FXS) poses a significant risk for autism. Cross-population comparisons of FXS and autism therefore offer a potentially valuable method for refining the range of phenotypes associated with variation in FMR1. This study adopted a broader phenotype approach, focusing on parents who are at increased genetic liability for autism or FXS. Women who were carriers of FMR1 in its premutation state were compared with mothers of individuals with autism, and controls in an attempt to determine whether subtle features of the broad autism phenotype may express at elevated rates among FMR1 premutation carriers. The principal personality and language features comprising the broad autism phenotype (i.e., rigid and aloof personality, and particular patterns of pragmatic language use) were assessed among 49 premutation carriers who were mothers of individuals with FXS, 89 mothers of individuals with autism, and 23 mothers of typically developing individuals. Relative to controls, the autism and premutation parent groups showed elevated rates of certain personality and language characteristics of the broad autism phenotype. Findings suggest partially overlapping personality and language profiles among autism and premutation parent groups, with rigid personality style and patterns of pragmatic language use emerging as features most clearly shared between groups. These results provide further evidence for the overlap of autism and FXS, and may implicate FMR1 in some of the subtle features comprising the broad autism phenotype.

Verbal perseveration is a frequently reported language characteristic of males with Fragile X syndrome and may be a defining feature or hallmark of the syndrome. We compared the verbal perseveration of boys with Fragile X syndrome with (n = 29) and without (n = 30) autism spectrum disorder, boys with Down syndrome (n = 27), and typically developing boys (n = 25) at similar nonverbal mental ages. During a social interaction, boys with both Fragile X syndrome and autism spectrum disorder produced significantly more topic perseveration than all other groups. In social interaction as compared to narration, boys with Fragile X syndrome (regardless of autism status) produced significantly more topic perseveration. These findings suggest that autism status, as well as language sampling context, affect perseveration in boys with Fragile X syndrome.

Impairments in the social use of language, or pragmatics, constitute a core characteristic of autism. Problems with pragmatic language have also been documented in fragile X syndrome (FXS), a monogenic condition that is the most common known genetic cause of autism. Evidence suggests that social cognitive ability, or theory of mind, may also be impaired in both conditions, and in autism, may importantly relate to pragmatic language ability. Given the substantial overlap observed in autism and FXS, this study aimed to better define those social-communicative phenotypes that overlap in these two conditions by comparing pragmatic language ability and theory of mind in children with idiopathic autism and children with FXS, with and without autism, as well as children with Down syndrome and typically developing controls. We further examined correlations between these cognitive-behavioral phenotypes and molecular genetic variation related to the Fragile X Mental Retardation-1 gene (FMR1) in the FXS group. Results indicated that children with idiopathic autism and those with FXS and autism performed comparably on direct-assessment measures of pragmatic language and theory of mind, whereas those with FXS only did not differ from controls. Theory of mind was related to pragmatic language ability in all groups. Pragmatic language and theory of mind also correlated with genetic variation at the FMR1 locus (Cytosine-Guanine-Guanine repeats and percent methylation). These results point toward substantial overlap in the social and language phenotypes in autism and FXS and suggest a molecular genetic basis to these phenotypic profiles.

Objective. The goal of this study was to document rates of parental consent in a pilot study of newborn screening for FMR1 gene expansions, examine demographic characteristics of mothers who consented or declined, describe the reasons for their decision, and discuss ethical and social aspects of the consent process.

Methods. A brief survey was used to record basic demographic data from mothers and an open-ended question was used to elicit parents' reasons for accepting or declining screening. A descriptive analysis was conducted on the number of mothers who consented to or declined screening, and a logistic regression model predicted mothers' likelihood to agree to screening based on demographic characteristics. Reasons for decisions were analyzed using content analysis. The study was conducted at University of North Carolina Hospitals. A total of 2137 mothers were approached.

Results. The uptake rate for couples was 63%. Acceptance rates varied by race/ethnicity, with black respondents being less likely to accept screening. Primary reasons for accepting were "to know," "belief in research," and "the test was minimal/no risk." Reasons for declining included not wanting to know or worry, not being a good time, and issues with testing children or with genetic tests.

Conclusions. Findings demonstrate that a majority of parents accepted newborn screening for FMR1 gene expansions, but decision rates and reasons for accepting or declining varied in part as a function of race/ethnicity and in part as a function of what parents most valued or feared in their assessment of risks and benefits.

We examined recalled narratives of boys with fragile X syndrome with autism spectrum disorder (FXS-ASD; N=28) and without ASD (FXS-O; N=29), and compared them to those of boys with Down syndrome (DS; N=33) and typically developing boys (TD; N=39). Narratives were scored for mentions of macrostructural Story Grammar elements (Introduction, Relationship, Initiating Events, Internal Response, Attempts/Actions, and Ending). We found that narrative recall is predicted by short-term memory and nonverbal mental age levels in almost all groups (except TD), but not by expressive syntax or caregiver education. After adjusting for these covariates, there were no differences between the three groups with intellectual disability (ID). The FXS-ASD group, however, had significantly poorer performance than the TD group on the overall Story Grammar score, and both the FXS-O and FXS-ASD groups had lower Attempts/Actions scores than the TD group. We conclude that some form of narrative impairment may be associated with FXS, that this impairment may be shared by other forms of ID, and that the presence of ASD has a significantly detrimental effect on narrative recall.

Background. Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability, and the most common single gene disorder associated with autism. Language impairments in this disorder are well documented, but the nature and extent of syntactic impairments are still unclear.

Aims. To compare the performance of boys with FXS with and without autism spectrum disorder on measures of verb (VM) and noun (NM) morphosyntax with that of typically developing boys of similar non-verbal mental ages.

Methods & Procedures. Conversational samples were obtained from 33 boys with FXS with autism spectrum disorder (FXS-ASD), 35 boys with FXS and no ASD (FXS-O), and 46 typically developing boys (TD). Production of verbal and nominal morphosyntax was assessed separately in these two subdomains. A hierarchical linear model compared morphosyntactic scores in all groups after adjusting for non-verbal cognition, articulatory skill, and caregiver education. The model also tested interactions between group and morphosyntactic subdomain.

Outcomes & Results. Boys with FXS in both groups scored lower than the TD boys on both measures. The FXS-O and the FXS-ASD groups did not differ on either composite measure. All covariates were significantly related to morphosyntactic scores.

Conclusions & Implications. Part of the morphosyntactic impairment in FXS may be attributable to cognitive, environmental, and speech factors. However, it is clear that boys with FXS perform at levels lower than expected from differences in these extra-linguistic factors alone, across both the verb and the noun domains. Clinical interventions should therefore seek to address specific syntactic targets.

This study's primary purpose was to examine the relative contribution of social-behavioral predictors to reading and math skills. The study expands on Duncan et al.'s (2007) work by using longitudinal methodology from the National Institute of Child Health and Human Development's Study of Child Care and Youth Development (SECCYD) and the Early Childhood Longitudinal Study, Kindergarten Class of 1998-1999 (ECLS-K) databases, and by focusing on potential differences in patterns of early predictors of later reading and math trajectories for African American versus Caucasian students. Predictor measures were selected at kindergarten, and the outcomes included standardized reading and math scores obtained from Grades 1, 3, 5, and 9 for the SECCYD sample, and Grades 3, 5, and 8 for the ECLS-K sample. Consistent with Duncan et al.'s findings, results reflect the relative contributions of early reading and math skills to later functioning in these respective academic domains for both samples, and there are indications for the importance of early expressive language skills to both reading and math in the SECCYD sample. Findings related to the power of social-behavioral predictors, however, are not consistent across samples. Although the SECCYD sample evidenced no such predictors, several interactions in the ECLS-K sample suggested the moderating effects of early ratings of aggressive behaviors and internalizing behaviors on later reading and math for African American students. The moderating effects of early teacher ratings of attention and internalizing behaviors for African American students as compared with Caucasian students in later math growth also were noted. The importance of early social-behavioral functions as related to later academic skills remains an important area of inquiry.

Background. Variability in behaviour displayed by children with fragile X syndrome (FXS) may be partially attributable to environmental factors such as maternal responsivity. The purpose of this study was to explore variables associated with maternal behaviour during a task designed to elicit frustration in their children with FXS.

Methods. Forty-six mother-child dyads, in which the child had full-mutation FXS, were observed in their homes during a task designed to elicit frustration in the child. Each child was given a wrong set of keys and asked to open a box to retrieve a desired toy. Mothers were provided with the correct set of keys and instructed to intervene when they perceived their child was getting too frustrated. Child-expressed frustration and requests for help and maternal behaviours (comforting, negative control, and encouraging/directing) were observed and coded. Maternal variables (e.g. depression, stress, education levels), child variables (e.g. autistic behaviours, age, medication use) and child behaviours (frustration, requests for help) were explored as predictors of maternal behaviour.

Results. Almost all mothers intervened to help their children and most used encouraging/directing behaviours, whereas very few used comforting or negative control. Child age and child behaviours during the frustrating event were significant predictors of encouraging/directing behaviours in the mothers. Children whose mothers reported higher depressive symptomology used fewer requests for help, and mothers of children with more autistic behaviours used more negative control.

Conclusions. The results of this study suggest that child age and immediate behaviours are more strongly related to maternal responsivity than maternal traits such as depression and stress.

This study combined parent and observational measures to examine the association between aberrant sensory features and restricted, repetitive behaviors in children with autism (N=67) and those with developmental delays (N=42). Confirmatory factor analysis was used to empirically validate three sensory constructs of interest: hyperresponsiveness, hyporesponsiveness, and sensory seeking. Examining the association between the three derived sensory factor scores and scores on the Repetitive Behavior Scales—Revised revealed the co-occurrence of these behaviors in both clinical groups. Specifically, high levels of hyperresponsive behaviors predicted high levels of repetitive behaviors, and the relationship between these variables remained the same controlling for mental age. We primarily found non-significant associations between hyporesponsiveness or sensory seeking and repetitive behaviors, with the exception that sensory seeking was associated with ritualistic/sameness behaviors. These findings suggest that shared neurobiological mechanisms may underlie hyperresponsive sensory symptoms and repetitive behaviors and have implications for diagnostic classification as well as intervention.

Objective. To describe the development of young boys with fragile X syndrome (FXS).

Methods. Fifty-five boys (aged 8-48 months at study entry) with the full mutation FXS received multiple developmental assessments.

Results. As expected, the boys' rate of development was significantly lower than chronological age expectations. No evidence of slowing in the rate of development was found. Autistic behavior was negatively associated with development, but maternal IQ was not. Developmental delays were evident in some domains as early as 9 months; however, initial detection of delays is complicated by measures and criteria used. Developmental age scores at 31 months of age were related to scores obtained at 61 months of age only in the global composite and visual reception domain.

Conclusions. Developmental delays are evident in some infants with FXS as young as 9 months of age. Pediatric psychologists need to be informed about the developmental profiles in young children with FXS to accurately diagnose, treat, and support these children and their families.

Purpose. To compare the phonological accuracy and speech intelligibility of boys with fragile X syndrome with autism spectrum disorder (FXS-ASD), fragile X syndrome only (FXS-O), Down syndrome (DS), and typically developing (TD) boys.

Method. Participants were 32 boys with FXS-O (3-14 years), 31 with FXS-ASD (5-15 years), 34 with DS (4-16 years), and 45 TD boys of similar nonverbal mental age. We used connected speech samples to compute measures of phonological accuracy, phonological process occurrence, and intelligibility.

Results. The boys with FXS, regardless of autism status, did not differ from TD boys on phonological accuracy and phonological process occurrence but produced fewer intelligible words than did TD boys. The boys with DS scored lower on measures of phonological accuracy and occurrence of phonological processes than all other groups and used fewer intelligible words than did TD boys. The boys with FXS and the boys with DS did not differ on measures of intelligibility.

Conclusions. Boys with FXS, regardless of autism status, exhibited phonological characteristics similar to those of younger TD children but were less intelligible in connected speech. Boys with DS showed greater delays in all phonological measures than the boys with FXS and the TD boys.

To describe the early phenotype of girls with full mutation fragile X, we used 54 observations of 15 girls between the ages of 6 months and 9 years to examine developmental trajectories as measured by the Battelle Development Inventory. In this sample, autistic behavior was associated with poorer developmental outcomes, primarily due to interactions of age with autistic behavior, even though autistic behavior, measured continuously, was relatively mild. Although this small sample, ascertained primarily through male relatives with fragile X syndrome, limits generalizability, considerable variability in developmental outcome in young girls was documented. In addition, findings support previous research suggesting that even mild autistic behaviors in girls can be associated with developmental outcomes.

Fragile X syndrome (FXS) is a model for studying the relative contributions of genetic and environmental factors to psychiatric disorders in mothers of children with disabilities. Here, we examine the frequency and predictors of mood and anxiety disorders in mothers with the FMR1 premutation. Ninety-three females with the FMR1 premutation were in the study and were compared to 2,159 women from the National Comorbidity Survey Replication (NCS-R) dataset. Mood and anxiety disorders were assessed using the SCID-I. Our data reflect elevated lifetime major depressive disorder (MDD), lifetime panic disorder without agoraphobia and current agoraphobia without panic disorder in the FMR1 premutation sample. Also, we found a low frequency of lifetime social phobia, specific phobia, and post-traumatic stress disorders and current specific phobia in the FMR1 premutation sample. The profile of MDD in the FMR1 premutation sample was not episodic or comorbid with an anxiety disorder, as in the NCS-R dataset. Never having been married and smaller CGG repeat length were associated with increased likelihood of MDD while increased children with FXS in the family and greater child problem behaviors were associated with increased likelihood of an anxiety disorder in the FMR 1 premutation group. Major depression in females with the FMR1 premutation may not be characterized as an episodically chronic recurrent disorder as it is in community samples and may have a genetic basis given the relationship with CGG repeat length and lack of association with all child and most demographic factors.

One hundred eight carrier mothers (95 premutation, 13 full mutation) of children with the full mutation fragile X syndrome completed seven scales to assess maternal stress, depressive symptoms, anger, anxiety, quality of life, hope, and optimism. A wide range of responses was found on each measure, with most mothers scoring in the non-clinical range on any individual measure. However, nearly half of the mothers scored in the clinically significant range on at least one measure and 25% on two or more measures. High stress and low quality of life were the most common domains of concern. Mothers with the full mutation generally did not differ from mothers with the premutation. CGG repeat length was not associated with responses on any of the measures completed by mothers with the premutation. Severity of the child's delay was not associated with any of the outcome measures, but child behavior problems accounted for significant variance in stress, depressive symptoms, anxiety, anger, and quality of life. Maternal adaptation appears to be a multidimensional phenomenon experienced in unique ways by each mother. Most mothers experienced positive adaptation, but a subset appear to be more vulnerable, especially those with children who have significant behavior problems. Future research needs to identify family, child, and support factors associated with maternal vulnerability and how adaptation changes over time in response to these factors.

Purpose. This study compared the syntax of boys who have fragile X syndrome (FXS) with and without autism spectrum disorder (ASD) with that of (a) boys who have Down syndrome (DS) and (b) typically developing (TD) boys.

Method. Thirty-five boys with FXS only, 36 boys with FXS with ASD, 31 boys with DS, and 46 TD boys participated. Conversational language samples were evaluated for utterance length and syntactic complexity (i.e., Index of Productive Syntax; H. S. Scarborough, 1990).

Results. After controlling for nonverbal mental age and maternal education levels, the 2 FXS groups did not differ in utterance length or syntactic complexity. The FXS groups and the DS group produced shorter, less complex utterances overall and less complex noun phrases, verb phrases, and sentence structures than did the TD boys. The FXS with ASD group and the DS group, but not the FXS-only group, produced less complex questions/negations than did the TD group. Compared with the DS group, both FXS groups produced longer, more complex utterances overall, but on the specific complexity measures, they scored higher only on questions/negations.

Conclusion. Boys with FXS and DS have distinctive language profiles. Although both groups demonstrated syntactic delays, boys with DS showed greater delays.

The performance of 54 boys with fragile X syndrome (FXS), ages 7 to 13 years, was compared to that of a group of typically developing boys who were matched on mental age (MA) and ethnicity across multiple measures of executive function (EF). Boys with FXS varied in their ability to complete EF measures, with only 25.9% being able to complete a set-shifting task and 94.4% being able to complete a memory for word span task. When compared to the control group, and controlling for MA and maternal education, boys with FXS showed significant deficits in inhibition, working memory, cognitive flexibility/set-shifting, and planning. No group differences were observed in processing speed. Mental age significantly impacted performance on working memory, set-shifting, planning, and processing speed tasks for both groups. In boys with FXS, MA significantly predicted performance on working memory and set-shifting tasks. Our findings suggest that deficits in EF in boys with FXS are not solely attributable to developmental delays but, rather, present as a true array of neurocognitive deficits.

Background and Purpose. No longitudinal study on sensory processing in children with fragile X syndrome (FXS) exists. This study examined developmental trajectories and correlates of sensory processing from infancy through preschool years in 13 boys with FXS.

Method. Participants were assessed using observational and parent-report measures 2-6 times between 9 and 54 months of age.

Results. Over time, an increasing proportion of boys displayed sensory processing that differed significantly from test norms. Observational measures were more sensitive than parent-reports early in infancy. Age and developmental quotient significantly predicted levels of hyporesponsiveness; there was a trend for hyperresponsiveness to increase with age. Baseline physiological and biological measures were not predictive.

Conclusions. Sensory processing problems are observable early and grow increasingly problematic from infancy through the preschool ages. Early identification and intervention may attenuate long-term difficulties for children with FXS.

Sustained attention and response inhibition were examined in boys with full mutation fragile X syndrome (FXS) using adapted visual and auditory continuous performance tests (CPTs). Only 61% of 56 boys with visual CPT data and 54% of 52 boys with auditory data were able to demonstrate sufficient understanding to complete the visual and auditory CPTs, respectively. Mental age (MA) predicted whether boys with FXS were able to demonstrate understanding of the CPTs. The performance of boys with FXS who were able to complete the CPTs was compared to a sample of boys without disabilities matched on MA. Boys with FXS demonstrated similar or smaller declines in sustained attention over task time than their MA-matched peers on the visual and auditory CPTs, respectively, but consistently demonstrated greater declines in response inhibition over task time than their MA-matched peers. There were no differences between groups for response time of hits. Higher MAs consistently predicted better sustained attention and response inhibition over task time on the visual and auditory CPTs. Furthermore, boys taking psychotropic medication performed better at the beginning of most tasks, although their performance deteriorated at a faster rate over time, and boys rated as meeting diagnostic criteria for ADHD-hyperactive type had more difficulty over task time with response inhibition on the auditory CPT. For both boys with FXS and their MA matches, performance was better on the visual CPT than on the auditory CPT though this effect may be attributable to a number of factors other than the modality.

Parent- and teacher-report of attention-deficit/hyperactivity disorder (ADHD) symptoms were examined using problem behavior and DSM-IV symptom inventory questionnaires for 63 children with full mutation fragile X syndrome (FXS) and 56 children without disabilities matched on mental age (MA). Prevalence rates of ADHD symptoms varied depending on type of measure (problem behavior or DSM-IV criteria), subscale (ADHD-inattentive or ADHD-hyperactive), scoring method (continuous T-scores or categorical scores based on DSM-IV algorithm), and rater (parent or teacher). Overall, 54-59% of boys with FXS met diagnostic behavioral criteria for either ADHD-inattentive type only, ADHD-hyperactive type only, or ADHD-combined type based on parent or teacher report. Boys with FXS were rated as having clinically high scores or met diagnostic criteria at higher rates than expected for the general population and had higher raw scores than their MA-matched peers. Parent ratings of boys with FXS resulted in higher ADHD-inattentive type and ADHD-hyperactive type T-scores than teachers. Boys who were rated as meeting DSM-IV criteria were more likely to be taking psychotropic medication and to have younger mental ages. Parents were substantially more likely than teachers to rate boys as meeting DSM-IV criteria for ADHD-inattentive type, while teachers were only slightly more likely than parents to rate boys as meeting DSM-IV criteria for ADHD-hyperactive type. Teachers were more likely than parents to rate boys as meeting DSM-IV criteria for ADHD when boys had lower levels of FMRP.

We examined autistic behavior in a cross-sectional sample of 179 children with fragile X syndrome (FXS) and a longitudinal subset of 116 children using the Childhood Autism Rating Scale (CARS) to (a) determine a prevalence of autistic behavior in FXS, (b) examine the stability of autistic ratings over time, and (c) assess the association between the fragile X mental retardation protein (FMRP) and autistic behavior. Approximately 21% of the sample of 129 children (25.9% of boys) scored at or above the cutoff for autism. CARS scores increased slowly, yet significantly, over time, and low levels of FMRP were associated with higher mean levels of autistic behavior as measured by the CARS.

This study compared the oral structure and oral-motor skills of 59 boys with fragile X syndrome (FXS), 34 boys with Down syndrome (DS), and 36 developmentally similar typically developing (TD) boys. An adaptation of the J. Robbins and T. Klee (1987) Oral Speech Motor Protocol was administered to participants and their scores on measures of oral structure and accuracy on speech motor and oral-motor tasks were analyzed. Boys with FXS scored lower than TD boys on oral structure, most oral function tasks, and all speech function tasks. Boys with DS scored lower than boys with FXS and TD boys on oral structure, and lower than TD boys on 1 oral function task and all speech function tasks. Boys with FXS and TD boys scored higher on speech function than oral function tasks, while boys with DS scored higher on oral function than speech function tasks. Boys with FXS and boys with DS repeated single syllable words with greater accuracy than multiple syllable words, while the TD boys produced both types of words with equal accuracy. These results suggest that boys with FXS and boys with DS exhibit atypical oral structure and motor function, yet differ in specific oral-motor patterns.

Physiological hyperarousal, an elevated state of physiological arousal and poor modulation, has been postulated to be a significant source of behavior problems in children with fragile X syndrome (FXS). Temperament has been associated with behavior problems and may also reflect biological reactivity. Young boys with FXS display poorly modulated and low levels of vagal tone (Roberts, Dev Psychobiol 2001;39:107-123) and high activity, poor attention, low adaptability, poor persistence, and low intensity when compared with a reference sample of typically developing (Hatton, Dev Med Child Neurol 1991;41:625-632). In this study, we integrated physiological indices of vagal tone with temperament ratings and compared a sample of 29 young boys with FXS to 31 typically developing boys matched on chronological age and ethnicity. Boys with FXS were more active, less adaptable, and less persistent than the comparison group. Boys with FXS also showed lower baseline levels and less suppression of vagal tone in response to changing task demands. A relationship between baseline vagal tone and persistence was shown across both groups. However, group differences in temperament dimensions did not appear to be mediated or moderated by vagal tone.

A case study approach was used to examine the complexities of service utilization in early intervention with infants, toddlers, and young children with disabilities. Seventy-two families of children (ages birth to 4) participating in nine early intervention programs in three states (Colorado, North Carolina, and Pennsylvania) and their service providers completed a self-report questionnaire and were interviewed. In addition, documents (the Individualized Family Service Plan or the Individualized Education Program and the latest assessment report) were analyzed. Results are reported in terms of families' service use and professionals' provision of services, including family characteristics, family-service provider relationships, African American mothers, support families received, families' reflections, and service providers' reflections. Overall, findings suggest that professionals' provision of services reflects: (1) a predominant child versus family orientation; (2) a generally positive approach to families; (3) a disjointed and segregated way of working with other professionals; (4) reasonably effective coordination of existing services; (5) poor provision of information about resources outside the formal early intervention/preschool programs; (6) a heavy reliance on therapists; and (7) dependence on direct, hands-on treatment for short periods.

This report presents the findings of a study that investigated the scope and nature of early childhood service delivery systems in three states (Pennsylvania, North Carolina, and Colorado). The study followed 75 children with disabilities for 18 months and surveyed 170 service providers of infants and toddlers and 186 service providers of preschool children. Findings from the study indicate: (1) utilization of infant and toddler and preschool services is high, particularly in comparison to the utilization rates of other federal entitlement programs; (2) percentages of children served indicate that not all eligible children are being served; (3) the average amount of specialized intervention services provided to infants and toddlers is 1.7 hours a week, while preschool children receive an average of 18 hours if they are in segregated settings, and 11 hours if they are in inclusive settings; (4) most systems have failed to put together a sufficient array of services to address the diverse needs of both the child and the family; (5) a significant proportion of the services occur in inclusive settings; and (6) better service outcomes for children and their families occurred in the more comprehensive and coordinated service delivery models.

Seventy-five families of children with special needs were interviewed after one year's experience with early intervention services and 69 of these families were then re-interviewed a year later after two years of such services. Five themes were identified in the families' views of "what works well." These were: (1) consistency of staff, (2) home visits, (3) programs providing financial support, (4) professionals who support parents and respond to their needs, and (5) professionals who show parents how developmental play stimulates the child's development. Suggestions from parents for other parents and service providers stressed the following: parents need to fight for services and advocate for their child; parents should get involved in an early intervention program as soon as possible; parents want information; parents value support from and connection with other parents; and parents need to take care of themselves emotionally. Other findings indicated that parents experience a somewhat fragmented service system, which requires that they learn different rules for dealing with different subsystems (e.g., social services, education).

Defensive distancing from victims of serious illness was investigated by providing subjects with personality profiles of a target person who had either a serious life-threatening illness (stomach cancer) or a less serious health problem (sprained ankle). Either immediately after learning of the target person's illness or after a 3-min delay, subjects rated themselves on the same set of personality traits. A significant Illness x Delay interaction was found on a composite measure of distancing from the victim. Subjects distanced themselves from the cancer victim by rating their own personalities as discrepant from this person in the delay but not in the immediate condition. Immediate but not delay subjects indicated greater liking for the cancer victim than the sprained ankle victim. Theoretical and practical implications are discussed.

Two experiments tested whether expression of emotions from which motivated cognitive biases presumably provide protection would reduce the extent of such biases. In Study I, we hypothesized that expressing any tension produced by writing a counterattitudinal essay would reduce the extent of dissonance-reducing attitude change. To test this hypothesis, Ss were induced to write an essay arguing for higher tuition. High-choice Ss were either encouraged to express their emotions, to suppress them, or to do neither. As expected, high-choice-express Ss exhibited the least attitude change. Study 2 tested the hypothesis that expressing fear of cancer would reduce the extent of defensive distancing from cancer patients, but expressing sympathy would not. Although control Ss clearly distanced from cancer patients, fear-expression Ss did not. Implications for understanding the role of affect in defense are discussed.