Brief Report: Autism Symptoms in Infants with Fragile X Syndrome.

Fragile X syndrome (FXS) is the most common known genetic cause of autism spectrum disorder (ASD). Although 50-75 % of children with FXS meet ASD criteria, no studies have compared ASD symptoms in infants with FXS versus other high risk groups, such as siblings of children with ASD (ASIBs). Using the Autism Observation Scale for Infants, our findings indicate that 53 % of 12-month infants with FXS fall in the "at risk" category compared to 17 and 6 % for age-matched ASIBs and controls, respectively. Elevated atypical motor behaviors were associated with elevated risk for FXS. Cross-syndrome comparisons are essential to understanding the heterogeneity of ASD and identifying candidate markers that will facilitate differential diagnosis of ASD in genetic disorders such as FXS.

Infant Development in Fragile X Syndrome: Cross-Syndrome Comparisons.

This study examined the developmental profile of male infants with fragile X syndrome (FXS) and its divergence from typical development and development of infants at high risk for autism associated with familial recurrence (ASIBs). Participants included 174 boys ranging in age from 5 to 28 months. Cross-sectional profiles on the Mullen Scales of Early Learning indicated infants with FXS could be differentiated from typically developing infants and ASIBs by 6 months of age. Infants with FXS displayed a trend of lower developmental skills with increasing age that was unique from the typically developing and ASIB groups. Findings suggest infants with FXS present with more significant, pervasive and early emerging delays than previously reported with potentially etiologically distinct developmental profiles.

Trajectory and Predictors of Depression and Anxiety Disorders in Mothers With the FMR1 Premutation.

BACKGROUND: Although the FMR1 premutation is associated with elevated prevalence of psychiatric disorders, the longitudinal course of symptoms has not been established. The present study followed a sample of women with the FMR1 premutation to characterize the incidence, stability, and predictors of mood and anxiety disorders across a 3-year period. METHODS: Participants included 83 women with the FMR1 premutation (mean age = 38.35) who completed the Structured Clinical Interview for DSM-IV Axis I Disorders at two time points, 3 years apart. Additional information was obtained regarding demographic, child, and biomedical (e.g., medication, menopause, CGG repeats) factors. RESULTS: We found increased prevalence of major depressive disorder (MDD) and anxiety disorders over time, with adverse outcomes predicted by complex interactions among biological, behavioral, and environmental risk factors. Lifetime MDD increased from 46% to 54% and lifetime anxiety disorders increased from 28% to 35%. Midrange CGG repeats, elevated child problem behaviors, and divorced marital status conveyed elevated risk for psychiatric diagnoses. Primary ovarian insufficiency was highly prevalent (41%) but did not account for elevated rates of psychiatric diagnoses. Medication use was highly reported (41%), particularly in women with MDD or anxiety, with selective serotonin reuptake inhibitors reported as the most commonly used medication across diagnostic groups. CONCLUSIONS: The elevated prevalence of depression and anxiety in women with the FMR1 premutation is a clear and pressing concern given the frequent occurrence of the FMR1 premutation in the general community and the adverse outcomes-at both individual and systems levels-associated with psychiatric disorders in this population.

Language development in infants and toddlers with fragile X syndrome: change over time and the role of attention.

Fragile X syndrome (FXS) is associated with significant language and communication delays, as well as problems with attention. This study investigated early language abilities in infants and toddlers with FXS (n  =  13) and considered visual attention as a predictor of those skills. We found that language abilities increased over the study period of 9 to 24 months, with moderate correlations among language assessments. In comparison to typically developing infants (n  =  11), language skills were delayed beyond chronological age and developmental-level expectations. Aspects of early visual attention predicted later language ability. Atypical visual attention is an important aspect of the FXS phenotype with implications for early language development, particularly in the domain of vocabulary.

The Development of Adaptive Behavior in Toddlers and Preschoolers with Fragile X versus Autism.

Although there is extensive research in the early detection of autism, no study has compared the adaptive behavior of young children with fragile X syndrome (FXS) and children with autism across ages. We investigated the cross-sectional development of adaptive behavior in children with FXS and children with autism between 18 and 83 months of age. Analyses revealed a significant relationship between age and adaptive behavior standard scores for children with FXS, with decreased performance across ages. Analyses also revealed that children with FXS had a relatively flat performance across domains while children with autism are typically more variable with lower scores in the communication domain relative to other domains. Delays in adaptive behavior were evident for children with FXS and children with autism at 24 months of age as reported in previous literature. Implications and future directions are discussed.

Cardiovascular and behavioral response to auditory stimuli in boys with fragile X syndrome.

OBJECTIVE: The aim of this study was to determine whether young boys with fragile X syndrome (FXS) exhibit abnormal physiological or behavioral responses to a moderately intense auditory stimulus, as heightened sensory reactivity is believed to contribute to problem behaviors in this population. METHODS: We examined the physiological basis, via heart activity, of auditory startle in young boys with FXS (n = 22) compared with typically developing controls (n = 27). Associations with mental age, behavioral reactivity, and chronological age were examined. RESULTS: Results suggest that older boys with FXS display increased cardiac reactivity to auditory input than younger boys with FXS that distinguishes them from typically developing controls. Higher mental age was associated with decreased latency to react. CONCLUSIONS: Results contribute to increased understanding of the pathology in sensory processing in boys with FXS, which can inform refinement of the phenotype in young children with FXS and aid in the development of efficacious psychopharmacological and/or behavioral interventions.