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

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Carla A. Wall ◽  
Abigail L. Hogan ◽  
Elizabeth A. Will ◽  
Samuel McQuillin ◽  
Bridgette L. Kelleher ◽  
...  
Keyword(s):  
Young Children ◽  
Negative Affect ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Prospective Longitudinal Study ◽  
Sex Effects ◽  
Increased Risk ◽  
Males And Females ◽  
Prospective Longitudinal

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

scholarly journals Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome

2020 ◽  
Vol 10 (4) ◽  
pp. 239
Author(s):  
Debra L. Reisinger ◽  
Rebecca C. Shaffer ◽  
Nicole Tartaglia ◽  
Elizabeth Berry-Kravis ◽  
Craig A. Erickson
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Repetitive Behavior ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Motor Behaviors ◽  
Sensory Motor ◽  
Adolescents And Adults ◽  
Males And Females ◽  
The Impact

Restricted repetitive behaviors (RRBs) are a core area of impairment in autism spectrum disorder (ASD), but also affect several other neurodevelopmental disorders including fragile X syndrome (FXS). Current literature has begun to describe the RRB profile in FXS up through adolescence; however, little is known about the subtypes of RRBs in adolescents and adults. Further, literature on the RRB profile of females with FXS is limited. The present study examines the RRB profile across subtypes and specific items in both males and females with FXS while assessing for differences based on age, ASD diagnosis and the impact of IQ. Participants included 154 individuals with FXS (ages 2 to 50 years old). Results revealed a peak in RRB severity in FXS between 7–12 years for the majority of RRB subscales with the exception of Sensory-Motor behaviors peaking between 2 and 12 years before declining. Distinct RRB profiles in males and females with FXS emerged in addition to significant overlap among the item and subscale levels of RRBs across gender. Further, an added diagnosis of ASD significantly increased rates of RRBs across all subscale levels, but not necessarily across all items. Lastly, IQ did not solely account for the presence of RRBs in FXS, with Sensory-Motor behaviors being driven by comorbid ASD in males with FXS, and Restricted Interest behaviors being driven by comorbid ASD regardless of gender. These findings build on the current understanding of RRBs in FXS based on gender and comorbid ASD and lay important groundwork for the development of targeted behavioral and pharmacological treatments.

scholarly journals Joint Engagement and Early Language in Young Children With Fragile X Syndrome

2016 ◽  
Vol 59 (5) ◽  
pp. 1087-1098 ◽  
Author(s):  
Laura J. Hahn ◽  
Nancy C. Brady ◽  
Kandace K. Fleming ◽  
Steven F. Warren
Keyword(s):  
Young Children ◽  
Fragile X Syndrome ◽  
Rating Scale ◽  
Fragile X ◽  
Language Skills ◽  
Expressive Language ◽  
Autism Spectrum ◽  
Language Abilities ◽  
Joint Engagement ◽  
Autism Symptomatology

PurposeIn this study, we examine joint engagement (JE) in young children with fragile X syndrome (FXS) and its relationship to language abilities and autism spectrum disorder symptomatology at 24 to 36 months (toddler period) and 59 to 68 months (child period).MethodParticipants were 28 children with FXS (24 boys, four girls) and their mothers. Videotaped home observations were conducted during the toddler period and coded for JE. Language abilities were measured at both ages from a developmental assessment, a functional measure, and from a language sample. The Childhood Autism Rating Scale (Schopler, Reichler, & Renner, 1988) was completed at both ages.ResultsChildren with FXS spent more time in supported JE than in coordinated JE. Using a weighted JE variable, we found that children with FXS who had higher weighted JE scores also had more advanced expressive language skills at both the toddler and child periods. Weighted JE was negatively related to autism symptomatology in the toddler period.ConclusionThis study provides evidence that children with FXS who use more JE also have more advanced expressive language skills in early development. Therefore, existing early interventions that target JE behaviors may be effective for promoting language, social communication, and social interaction in this population.

scholarly journals Emergence and rate of autism in fragile X syndrome across the first years of life

2020 ◽  
Vol 32 (4) ◽  
pp. 1335-1352
Author(s):  
Jane E. Roberts ◽  
Jessica Bradshaw ◽  
Elizabeth Will ◽  
Abigail L. Hogan ◽  
Samuel McQuillin ◽  
...  
Keyword(s):  
Psychiatric Disorders ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Intellectual Ability ◽  
Autonomic Arousal ◽  
Statistical Manual ◽  
Diagnostic And Statistical Manual ◽  
Multimethod Approach ◽  
Prospective Longitudinal

AbstractProspective longitudinal studies of idiopathic autism spectrum disorder (ASD) have provided insights into early symptoms and predictors of ASD during infancy, well before ASD can be diagnosed at age 2–3 years. However, research on the emergence of ASD in disorders with a known genetic etiology, contextualized in a developmental framework, is currently lacking. Using a biobehavioral multimethod approach, we (a) determined the rate of ASD in N = 51 preschoolers with fragile X syndrome (FXS) using a clinical best estimate (CBE) procedure with differential diagnoses of comorbid psychiatric disorders and (b) investigated trajectories of ASD symptoms and physiological arousal across infancy as predictors of ASD in preschoolers with FXS. ASD was not diagnosed if intellectual ability or psychiatric disorders better accounted for the symptoms. Our results determined that 60.7% of preschoolers with FXS met the Diagnostic and Statistical Manual of Mental Disorders (fifth edition) (DSM-5) criteria for ASD using the CBE procedure. In addition, 92% of these preschoolers presented with developmental delay and 45.4% also met criteria for psychiatric disorders, either anxiety, ADHD, or both. ASD diagnoses in preschoolers with FXS were predicted by elevated scores on traditional ASD screeners in addition to elevated autonomic arousal and avoidant eye contact from infancy.

Does Attention Constrain Developmental Trajectories in Fragile X Syndrome? A 3-Year Prospective Longitudinal Study

2012 ◽  
Vol 117 (2) ◽  
pp. 103-120 ◽  
Author(s):  
Kim Cornish ◽  
Victoria Cole ◽  
Elena Longhi ◽  
Annette Karmiloff-Smith ◽  
Gaia Scerif
Keyword(s):  
Fragile X Syndrome ◽  
Classroom Behavior ◽  
Fragile X ◽  
Developmental Trajectories ◽  
Time Frame ◽  
Prospective Longitudinal Study ◽  
Key Factor ◽  
Growth Scores ◽  
Cognitive Attention ◽  
Prospective Longitudinal

Abstract Basic attentional processes and their impact on developmental trajectories in fragile X syndrome were assessed in a 3-year prospective study. Although fragile X syndrome is a monogenic X-linked disorder, there is striking variability in outcomes even in young boys with the condition. Attention is a key factor constraining interactions with the environment, so it is a perfect candidate to predict trajectories in cognitive and behavioral outcomes. In this study, 48 boys with fragile X syndrome were assessed 3 times over 24 months. Although nonverbal IQ declined, there were significant improvements in nonverbal growth scores and in cognitive attention. In contrast, behavioral difficulties (i.e., autistic symptomatology, hyperactivity–inattention) remained stable over this time frame. Attentional markers in the visual and auditory modalities predicted intellectual abilities and classroom behavior, whereas auditory markers alone predicted autistic symptomatology.

scholarly journals Noncomprehension Signaling in Males and Females With Fragile X Syndrome

2017 ◽  
Vol 60 (6) ◽  
pp. 1606-1621 ◽  
Author(s):  
Angela John Thurman ◽  
Sara T. Kover ◽  
W. Ted Brown ◽  
Danielle J. Harvey ◽  
Leonard Abbeduto
Keyword(s):  
Fragile X Syndrome ◽  
Cognitive Skills ◽  
Longitudinal Design ◽  
Fragile X ◽  
Average Rate ◽  
Rate Of Change ◽  
Typically Developing ◽  
Data Points ◽  
Males And Females ◽  
Prospective Longitudinal

Purpose This study used a prospective longitudinal design to evaluate the trajectory and predictors of noncomprehension signaling in male and female youth with fragile X syndrome (FXS). Method A direction-following task in which some of the directions were inadequate was administered. Participants were 52 youth (36 boys, 16 girls) with FXS. Upon study entry, participants ranged from 10 to 16 years. The average number of annual assessments per participant was 3.65 (range = 1–4), providing 198 data points for analysis. Results Participants with FXS were less likely to signal noncomprehension than younger, typically developing, cognitively matched children. The average rate of change in noncomprehension signaling was not significantly different from 0 for either boys or girls, suggesting a plateau. Both FMRP and nonverbal IQ were significant independent predictors of noncomprehension signaling for boys. Variability in noncomprehension signaling among girls was not explained by any of the predictors, but trends similar to those observed for boys were observed. Conclusions Noncomprehension signaling appears to be an area of weakness for individuals with FXS. Because the failure to signal noncomprehension can have negative, cumulative effects on comprehension, the results suggest a need for interventions targeting the requisite cognitive skills.

scholarly journals Prenatal Risk for Autism Spectrum Disorder (ASD): Fetal Cortisol Exposure Predicts Child ASD Symptoms

2018 ◽  
Vol 7 (2) ◽  
pp. 349-361 ◽  
Author(s):  
Sheena Ram ◽  
Mariann A. Howland ◽  
Curt A. Sandman ◽  
Elysia Poggi Davis ◽  
Laura M. Glynn
Keyword(s):  
Autism Spectrum Disorder ◽  
Developmental Disorder ◽  
Maternal Plasma ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Sexually Dimorphic ◽  
Fetal Exposure ◽  
Prospective Longitudinal Study ◽  
The Social ◽  
Prospective Longitudinal

The etiology of autism spectrum disorder (ASD) is multifactorial, complex, and likely involves interactions among genetic, epigenetic, and environmental factors. With respect to environmental influences, a growing literature implicates intrauterine experiences in the origin of this pervasive developmental disorder. In this prospective longitudinal study, we examined the hypothesis that fetal exposure to maternal cortisol may confer ASD risk. In addition, because ASD is four times more prevalent in males than in females, and because sexually dimorphic responses to intrauterine experiences are commonly observed, we examined whether or not any associations differ by fetal sex. Maternal plasma cortisol was measured at 15, 19, 25, 31, and 37 weeks’ gestation in a sample of 84 pregnant women. ASD symptoms were assessed in their 5-year-old children with the Social Communication Questionnaire (SCQ). Fetal exposure to lower levels of maternal cortisol was associated with higher levels of ASD symptoms only among boys. The observed hypocortisolemic profile exhibited by these mothers may indicate a risk factor that precedes the stress of caregiving for a child with ASD and may not be solely a consequence of the stress of caregiving, as previously thought. These findings confirm the value of examining prenatal hormone exposures as predictors of ASD risk and support the premise that altered prenatal steroid exposures may play a role in the etiology of ASD.

scholarly journals Impaired perceptual learning in Fragile X syndrome is mediated by parvalbumin neuron dysfunction in V1 and is reversible

2017 ◽  
Author(s):  
Anubhuti Goel ◽  
Daniel A. Cantu ◽  
Janna Guilfoyle ◽  
Gunvant R. Chaudhari ◽  
Aditi Newadkar ◽  
...  
Keyword(s):  
Perceptual Learning ◽  
Fragile X Syndrome ◽  
Visual Discrimination ◽  
Fragile X ◽  
Human Subjects ◽  
Autistic Traits ◽  
Autism Spectrum ◽  
Orientation Tuning ◽  
Mechanistic Basis

Atypical sensory processing is a core characteristic in autism spectrum disorders1 that negatively impacts virtually all activities of daily living. Sensory symptoms are predictive of the subsequent appearance of impaired social behavior and other autistic traits2, 3. Thus, a better understanding of the changes in neural circuitry that disrupt perceptual learning in autism could shed light into the mechanistic basis and potential therapeutic avenues for a range of autistic symptoms2. Likewise, the lack of directly comparable behavioral paradigms in both humans and animal models currently limits the translational potential of discoveries in the latter. We adopted a symptom-to-circuit approach to uncover the circuit-level alterations in the Fmr1-/- mouse model of Fragile X syndrome (FXS) that underlie atypical visual discrimination in this disorder4, 5. Using a go/no-go task and in vivo 2-photon calcium imaging in primary visual cortex (V1), we find that impaired discrimination in Fmr1-/- mice correlates with marked deficits in orientation tuning of principal neurons, and a decrease in the activity of parvalbumin (PV) interneurons in V1. Restoring visually evoked activity in PV cells in Fmr1-/- mice with a chemogenetic (DREADD) strategy was sufficient to rescue their behavioral performance. Finally, we found that human subjects with FXS exhibit strikingly similar impairments in visual discrimination as Fmr1-/- mice. We conclude that manipulating orientation tuning in autism could improve visually guided behaviors that are critical for playing sports, driving or judging emotions.

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