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

Roberts, Jane; Bradshaw, Jessica; Will, Elizabeth; Hogan, Abigail L.; McQuillin, Samuel D.; Hills, Kimberly J.

doi:10.1017/s0954579420000942

Cited by 27 publications

(56 citation statements)

References 78 publications

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“…For example, IBI has been shown to predict later ASD symptoms in a non-linear fashion across age, with greater ASD severity in childhood being associated with longer IBI in infancy but shorter IBI in childhood (57). In the only longitudinal study of ANS function in young children with FXS to date, Roberts and colleagues (41) found that shorter initial IBI, but not developmental change in IBI, predicted later ASD diagnoses in young children with FXS. Interestingly, neither initial RSA nor RSA maturation predicted ASD diagnoses.…”

Section: Discussionmentioning

confidence: 99%

“…Roberts et al (57) documented elevated HR and lower RSA in the youngest sample to date (8-40 months of age), and found that lower RSA was associated with greater ASD symptoms in children aged 22 months or older, but not in younger children. In the only longitudinal study to date in FXS, Roberts et al (41) found that shorter initial IBI in infancy, but not change over time, predicted later ASD diagnoses in young children with FXS. Interestingly, neither initial RSA nor change over time in RSA predicted ASD diagnoses.…”

Section: Introductionmentioning

confidence: 99%

“…It is characterized by moderate intellectual disability, behavior problems, and sensory processing difficulties. Children with FXS are also at significantly increased risk for both ASD (∼61%) and anxiety (∼40-50%) (41)(42)(43)(44)(45), both of which are linked with poorer developmental and social outcomes (46)(47)(48)(49)(50). Understanding how ANS dysfunction contributes to increased risk for ASD and anxiety in infants with FXS is of critical importance, as such knowledge will enable early identification of high-risk infants and inform the development of targeted prevention and interventions, which may in turn optimize developmental outcomes and quality of life for children with FXS.…”

Section: Introductionmentioning

confidence: 99%

“…Thus, the second aim of the study was to examine the relationship between early ANS function and developmental change in ANS function with later ASD and anxiety symptoms. Based on leading theories of the role of ANS dysfunction in the development of anxiety (33,34) and ASD symptoms (3,25), we predicted that shorter IBI and slower change in IBI across development would be related to later anxiety symptoms, while lower RSA and slower (41,63). Participants were excluded if they were born at <37 weeks gestation, had uncorrected vision or hearing impairments, or had parents who were not proficient in English.…”

Section: Introductionmentioning

confidence: 99%

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Trajectories of Heart Activity Across Infancy to Early Childhood Differentially Predict Autism and Anxiety Symptoms in Fragile X Syndrome

et al. 2021

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Background: Fragile X syndrome (FXS) is a monogenic disorder characterized by high rates of autism spectrum disorder (ASD) and anxiety. A longstanding “hyperarousal hypothesis” in FXS has argued that ANS dysfunction underpins many symptoms of FXS. However, the developmental onset and trajectory of ANS dysfunction, as well as the consequences of ANS dysfunction on later psychiatric symptoms, remain poorly understood in FXS. Insight into the emergence, trajectory, and consequences of ANS dysfunction across early development in FXS has critical implications for prevention, intervention, and optimal outcomes in both typical and atypical development. This longitudinal study investigated whether and when males with FXS evidence atypical ANS function from infancy through early childhood, and how trajectories of ANS function across infancy and early childhood predict ASD and anxiety symptom severity later in development.Methods: Participants included 73 males with FXS and 79 age-matched typically developing (TD) males. Baseline heart activity was recorded at multiple assessments between 3 and 83 months of age, resulting in 372 observations. General arousal and parasympathetic activity were indexed via interbeat interval (IBI) and respiratory sinus arrhythmia (RSA), respectively. ASD and anxiety symptoms were assessed at 36 months of age or later in a subgroup of participants (FXS n = 28; TD n = 25).Results: Males with FXS exhibited atypical patterns of developmental change in ANS function across infancy and early childhood. As a result, ANS dysfunction became progressively more discrepant across time, with the FXS group exhibiting significantly shorter IBI and lower RSA by 29 and 24 months of age, respectively. Shorter IBI at 24 months and a flatter IBI slope across development predicted elevated anxiety symptoms, but not ASD symptoms, later in childhood in both FXS and TD males. Reduced RSA at 24 months predicted elevated ASD symptoms, but not anxiety symptoms, in both groups. Developmental change in RSA across early development did not predict later anxiety or ASD symptoms.Conclusion: This is the first longitudinal study to examine the “hyperarousal hypothesis” in infants and young children with FXS. Findings suggest that hyperarousal (i.e., shorter IBI, lower RSA) is evident in males with FXS by 24–29 months of age. Interestingly, unique aspects of early ANS function differentially relate to later ASD and anxiety symptoms. General arousal, indexed by shorter IBI that becomes progressively more discrepant from TD controls, predicts later anxiety symptoms. In contrast, parasympathetic-related factors, indexed by lower levels of RSA, predict ASD symptoms. These findings support the “hyperarousal hypothesis” in FXS, in that ANS dysfunction evident early in development predicts later-emerging symptoms of ASD and anxiety. This study also have important implications for the development of targeted treatments and interventions that could potentially mitigate the long-term effects of hyperarousal in FXS.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Trajectories of Heart Activity Across Infancy to Early Childhood Differentially Predict Autism and Anxiety Symptoms in Fragile X Syndrome

et al. 2021

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“…As a rule, autism spectrum disorders are diagnosed at the age of 3–5 years, it is possible to reveal them at 1.5 years and in some cases at 6–12 months; the symptoms are preserved in adolescence and adulthood [ 31 ]. Currently, there are no highly sensitive and specific biological markers of ASD in medicine.…”

Section: Introductionmentioning

confidence: 99%

Molecular Mechanisms of Aberrant Neuroplasticity in Autism Spectrum Disorders (Review)

Anashkina¹,

Ерлыкина²

2021

Sovrem Tehnol Med

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This review presents the analysis and systematization of modern data on the molecular mechanisms of autism spectrum disorders (ASD) development. Polyetiology and the multifactorial nature of ASD have been proved. The attempt has been made to jointly review and systematize current hypotheses of ASD pathogenesis at the molecular level from the standpoint of aberrant brain plasticity. The mechanism of glutamate excitotoxicity formation, the effect of imbalance of neuroactive amino acids and their derivatives, neurotransmitters, and hormones on the ASD formation have been considered in detail. The strengths and weaknesses of the proposed hypotheses have been analyzed from the standpoint of evidence-based medicine. The conclusion has been drawn on the leading role of glutamate excitotoxicity as a biochemical mechanism of aberrant neuroplasticity accompanied by oxidative stress and mitochondrial dysfunction. The mechanism of aberrant neuroplasticity has also been traced at the critical moments of the nervous system development taking into account the influence of various factors of the internal and external environment. New approaches to searching for ASD molecular markers have been considered.

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Distinct social attention profiles in preschoolers with autism contrasted to fragile X syndrome

et al. 2022

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Social attention is a critical skill for learning and development. Social attention difficulties are present in both non‐syndromic autism spectrum disorder (nsASD) and fragile X syndrome (FXS), and our understanding of these difficulties is complicated by heterogeneity in both disorders, including co‐occurring diagnoses like intellectual disability and social anxiety. Existing research largely utilizes a single index of social attention and rarely includes children with intellectual impairment or uses a cross‐syndrome approach. This study investigated whether multi‐trait social attention profiles including naturalistic initial eye contact, facial attention, and social scene attention differ in preschool children with nsASD and FXS matched on developmental ability (DQ) and contrasted to neurotypical (NT) controls. The relationship between DQ, ASD severity, and social anxiety and social attention profiles was also examined. Initial eye contact related to social scene attention, implicating that naturalistic social attention is consistent with responses during experimental conditions. Reduced eye contact and lower social scene attention characterized nsASD and FXS. Children with nsASD displayed less facial attention than FXS and NT children, who did not differ. Lower DQ and elevated ASD severity associated with decreased eye contact in nsASD and FXS, and lower DQ was associated with lower social scene attention in FXS. Sex, social anxiety, and age were not associated with social attention. These findings suggest social attention profiles of children with nsASD are highly similar to, yet distinct from, children with FXS. Children with nsASD may present with a global social attention deficit whereas FXS profiles may reflect context‐dependent social avoidance.

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

Cited by 27 publications

References 78 publications

Trajectories of Heart Activity Across Infancy to Early Childhood Differentially Predict Autism and Anxiety Symptoms in Fragile X Syndrome

Trajectories of Heart Activity Across Infancy to Early Childhood Differentially Predict Autism and Anxiety Symptoms in Fragile X Syndrome

Molecular Mechanisms of Aberrant Neuroplasticity in Autism Spectrum Disorders (Review)

Distinct social attention profiles in preschoolers with autism contrasted to fragile X syndrome

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