Donald B. Bailey

Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact 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.

Co‐occurring conditions associated with FMR1 gene variations: Findings from a national parent survey

Parents enrolling in a national survey of families of children with fragile X (FX) reported whether each of their children had been diagnosed or treated for developmental delay or eight conditions frequently associated with FX: attention problems, hyperactivity, aggressiveness, self‐injury, autism, seizures, anxiety, or depression. This article reports results for 976 full mutation males, 259 full mutation females, 57 premutation males, and 199 premutation females. Co‐occurring conditions were frequently reported for all FMR1 gene variations. The number of co‐occurring conditions experienced was strongly associated with parent reports of their childs ability to learn, adaptability, and quality of life. Most individuals with the full mutation experienced multiple co‐occurring conditions, with a modal number of 4 for males and 2 for females. Most (>80%) full mutation males and females had been diagnosed or treated for attention problems. Premutation males, when compared with a matched group of non‐FX males, were more likely to have been diagnosed or treated for developmental delay, attention problems, aggression, seizures, autism, and anxiety. Premutation females were more likely to have been diagnosed or treated for attention problems, anxiety, depression, and developmental delay. Clusters of conditions were identified, seeming to occur in an additive fashion. Self‐injury, autism, and seizures rarely occurred in isolation, but were more likely in individuals who also had problems with attention, anxiety, and hyperactivity. The findings provide a reference point for future studies on the prevalence and nature of co‐occurring conditions in FX; suggest the possibility that certain conditions cluster together; provide evidence that male and female carriers experience elevated rates of co‐occurring conditions compared with matched groups of non‐carrier children; and emphasize the importance of including an assessment of co‐occurring conditions in any clinical evaluation of individuals with abnormal variation in the FMR1 gene.

Family Outcomes in Early Intervention: A Framework for Program Evaluation and Efficacy Research

Much of the focus on the relationship between parents and professionals in early intervention has been on the rationale for working with families and the processes by which that rationale should be implemented. Although some discussion has occurred regarding desired outcomes, approaches and strategies by which the attainment of family outcomes could be documented have not been widely discussed or agreed upon by the field. In this article we suggest eight questions that could serve as a framework for determining the extent to which early intervention has accomplished the goals inherent in a family-centered approach. Conceptual issues and methodological considerations associated with documenting these outcomes are presented, and recommendations regarding implementation and future directions are made.

Autistic behavior in young boys with fragile X syndrome

A sample of 57 boys with fragile X syndrome (fraX) between the ages of 24 and 133 months was rated using the Childhood Autism Rating Scale (CARS) to assess the extent to which autism and autistic features were evident in a young population. Fourteen subjects (approximately 25% of the sample) scored above the cutoff for autism, suggesting a relatively high incidence of autistic behavior. All but 2 of these 14 were in the mildly or moderately autistic range, however, and only a few items received severe ratings, suggesting that severe autism is relatively rare in fraX, at least during the early years. The CARS resulted in a continuum of autistic ratings in the fraX population, but no particular items on the CARS contributed disproportionately to autism ratings. A visual comparison of ratings on an autistic, non-fraX sample revealed similar profiles of ratings, suggesting that differentiating fraX and autism on the basis of CARS ratings is not likely. Within the fraX group, chronological age and socioeconomic status did not correlate with CARS ratings, but severity of delay was strongly related, such that more severely delayed children scored higher (more autistic) on the CARS.

Autistic Behavior, FMR1 Protein, and Developmental Trajectories in Young Males with Fragile X Syndrome

In the context of a longitudinal study, we assessed the relationship between ratings of autistic behavior, FMR1 protein expression (FMRP), and the developmental trajectories of 55 young males with fragile X syndrome. Autistic behavior, as measured by the Childhood Autism Rating Scale, was not related to FMRP expression. However, autistic behavior was a significant predictor of both developmental status and developmental change. Boys with both autistic behavior and fragile X syndrome functioned at significantly lower levels of development and grew at significantly slower rates than those without autistic behavior. FMRP expression accounted for less variance in developmental level than did autistic behavior, and was not significantly related to slope (developmental change over time). No autistic behavior × FMRP interaction was found.

Behavioral and Developmental Outcomes in Young Children with Disabilities in Integrated and Segregated Settings A Review of Comparative Studies

This article reviews the literature comparing outcomes for young children with disabilities in integrated and segregated settings. An examination of research methodology, dependent measures, and programmatic variables is used to analyze the effects of preschool integration across 22 studies. Despite some methodological weaknesses, an analysis of findings provides support for the benefits of preschool integration with respect to social and other behavioral outcomes. Childrens developmental outcomes over time have not been shown to vary as a function of integrated versus segregated placement. The article concludes with a discussion of these findings and their implications for future research and practice in early intervention.

Early Development, Temperament, and Functional Impairment in Autism and Fragile X Syndrome.

We compared the developmental status, functional abilities, and temperament of 31 young boys with fragile X syndrome (FXS) who did not have autism, matched on chronological age, gender, and race, with 31 boys with autism but no FXS. Children with autism exhibited a more variable profile of development in comparison with a relatively flat profile for children with FXS. Children with autism were significantly more delayed in social skills and were rated by observers as exhibiting a greater degree of impairment in cognitive, communication, and social skills. On temperament ratings, both groups were slower to adapt, less persistent, and more withdrawing than the reference group. Boys with FXS were rated as more active than the referent group, whereas boys with autism were rated as less intense, more distractible, having a higher threshold for response, and less rhythmic than the reference group. A smaller three-group analysis compared boys with FXS, boys with autism, and boys with both FXS and autism. Children with both autism and FXS were substantially more delayed than children with autism or FXS alone.

Assessing Needs of Families with Handicapped Infants

A 35-item parent survey was developed to assess the functional needs of parents with young handicapped children. A rationale for scale development and content is presented. Data from 34 two-parent families with handicapped infants suggest that the instrument is a useful source of intervention goals. Several items emerged as high priority needs for mothers and fathers. Addition of an open-ended response format provided a considerable amount of useful information. A readministration of the measure 6 months later with a subset of 20 families yielded high correlations. Implications of these findings for clinicians working with families of young handicapped children are discussed.

Mood and anxiety disorders in females with the FMR1 premutation

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.

Creating Family-Centered Services in Early Intervention: Perceptions of Professionals in Four States

This article describes professional perceptions of the current status of family involvement in early intervention programs in four states. Significant discrepancies between current and ideal practices were found in four dimensions: parent involvement in decisions about child assessment, parent participation in assessment, parent participation in the team meeting and decision making, and the provision of family goals and services. In identifying barriers to ideal programs, professionals most frequently mentioned family barriers (35.8%) and system barriers (35.1%). Professional barriers, or those related to a lack of skill, accounted for only 14.8% of the barriers mentioned.