Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series

Hogan, Abigail L.; Caravella, Kelly E.; Ezell, Jordan; Rague, Lisa; Hills, Kimberly J.; Roberts, Jane

doi:10.1007/s10803-017-3081-9

Cited by 68 publications

(48 citation statements)

References 52 publications

(83 reference statements)

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“…Motor function in FXS gradually diverges from a typical trajectory between infancy and toddlerhood 48 and atypical motor behaviors, such as stereotypies, are hallmark features of FXS from early in life. 4,49 We did not find that the SCP or other putative motor pathways were associated with NVDQ. Further analysis into this issue revealed that the visual reception component appeared to drive the association between uncinate FA and NVDQ.…”

Section: Discussioncontrasting

confidence: 60%

Development of White Matter Circuitry in Infants With Fragile X Syndrome

Swanson¹,

Wolff

Shen³

et al. 2018

JAMA Psychiatry

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IMPORTANCE Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder and the most common inherited cause of intellectual disability in males. However, there are no published data on brain development in children with FXS during infancy. OBJECTIVE To characterize the development of white matter at ages 6, 12, and 24 months in infants with FXS compared with that of typically developing controls. DESIGN, SETTING, AND PARTICIPANTS Longitudinal behavioral and brain imaging data were collected at 1 or more time points from 27 infants with FXS and 73 typically developing controls between August 1, 2008, and June 14, 2016, at 2 academic medical centers. Infants in the control group had no first- or second-degree relatives with intellectual or psychiatric disorders, including FXS and autism spectrum disorder. MAIN OUTCOMES AND MEASURES Nineteen major white matter pathways were defined in common atlas space based on anatomically informed methods. Diffusion parameters, including fractional anisotropy, were compared between groups using linear mixed effects modeling. Fiber pathways showing group differences were subsequently examined in association with direct measures of verbal and nonverbal development. RESULTS There were significant differences in the development of 12 of 19 fiber tracts between the 27 infants with FXS (22 boys and 5 girls) and the 73 infants in the control group (46 boys and 27 girls), with lower fractional anisotropy in bilateral subcortical-frontal, occipital-temporal, temporal-frontal, and cerebellar-thalamic pathways, as well as 4 of 6 subdivisions of the corpus callosum. For all 12 of these pathways, there were significant main effects between groups but not for the interaction of age × group, indicating that lower fractional anisotropy was present and stable from age 6 months in infants with FXS. Lower fractional anisotropy values in the uncinate fasciculi were correlated with lower nonverbal developmental quotient in the FXS group (left uncinate, F = 10.06; false discovery rate–corrected P = .03; right uncinate, F = 21.8; P = .004). CONCLUSIONS AND RELEVANCE The results substantiate in human infants the essential role of fragile X gene expression in the early development of white matter. The findings also suggest that the neurodevelopmental effects of FXS are well established at 6 months of age.

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Section: Discussioncontrasting

confidence: 60%

Development of White Matter Circuitry in Infants With Fragile X Syndrome

Swanson¹,

Wolff

Shen³

et al. 2018

JAMA Psychiatry

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“…So, despite evidence of early cognitive deficits [Jeste et al, ], the social communication development of many infants with TSC does not deviate from typically developing infants in a substantial way, at least early in life. This finding lies in contrast with studies of other syndromic forms of ASD, such as Fragile X Syndrome, where infants who did not develop ASD evidenced elevations on the AOSI at 9 months [Hogan et al, ]. The spared social communication development of TSC/no ASD infants, therefore, provides a unique opportunity to examine resilience, or the biological, behavioral, and environmental factors that may protect some infants with TSC from adverse neurodevelopmental outcomes.…”

Section: Discussionmentioning

confidence: 78%

Early autism symptoms in infants with tuberous sclerosis complex

McDonald¹,

Varcin

Bhatt³

et al. 2017

Autism Research

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We examined early signs of autism spectrum disorder (ASD) in infants with tuberous sclerosis complex (TSC), approximately 50% of whom will meet criteria for ASD by age 3. Infants with TSC and ASD showed deficits in social communication behaviors by 9 months of age that were clearly distinguishable from behaviors in infants with TSC who do not develop ASD and low risk infants. Results support the importance of early ASD screening and intervention for infants with TSC.

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“…Parents completed the Infant Behavior Questionnaire (IBQ [ 42 ]), a parent-report measure that comprises 14 subscales grouped into three overarching factors labelled Surgency (the child’s tendency to show excitement, positive affect, and approach), Negative Affect (the child’s tendency to cry, be avoidant, or otherwise fussy), and Effortful Control (the child’s ability to regulate their mood and behaviour) [ 42 , 43 ]. Parents of infants at high familial risk for ASD completed the original form of the IBQ-R [ 44 ]; parents of infants with NF1 completed the short form [ 42 ].…”

Section: Methodsmentioning

confidence: 99%

Early development of infants with neurofibromatosis type 1: a case series

et al. 2017

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BackgroundProspective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD.MethodsWe present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence of ASD or ASD symptomatology. We compared data from infants with NF1 to a large cohort of infants at familial risk for ASD, separated by outcome at age 3 of ASD (n = 34), atypical development (n = 44), or typical development (n = 89), and low-risk controls (n = 75). Domains assessed at 10 months by parent report and examiner observation include cognitive and adaptive function, sensory processing, social engagement, and temperament.ResultsInfants with NF1 showed striking impairments in motor functioning relative to low-risk infants; this pattern was seen in infants with later ASD from the familial cohort (HR-ASD). Both infants with NF1 and the HR-ASD group showed communication delays relative to low-risk infants.ConclusionsTen-month-old infants with NF1 show a range of developmental difficulties that were particularly striking in motor and communication domains. As with HR-ASD infants, social skills at this age were not notably impaired. This is some of the first information on early neurodevelopment in NF1. Strong inferences are limited by the sample size, but the findings suggest implications for early comparative developmental science and highlight motor functioning as an important domain to inform the development of relevant animal models. The findings have clinical implications in indicating an important focus for early surveillance and remediation in this early diagnosed genetic disorder.Electronic supplementary materialThe online version of this article (10.1186/s13229-017-0178-0) contains supplementary material, which is available to authorized users.

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Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series

Cited by 68 publications

References 52 publications

Development of White Matter Circuitry in Infants With Fragile X Syndrome

Development of White Matter Circuitry in Infants With Fragile X Syndrome

Early autism symptoms in infants with tuberous sclerosis complex

Early development of infants with neurofibromatosis type 1: a case series

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