Early gesture use in fragile X syndrome

Rague, Lisa; Caravella, Kelly E.; Tonnsen, Bridgette L.; Klusek, Jessica; Roberts, Jane

doi:10.1111/jir.12498

Cited by 12 publications

(22 citation statements)

References 42 publications

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“…Data regarding trajectories of ASD features that emerge in the first few years of life and predict ASD diagnoses in FXS are also quite limited. Preliminary studies indicate that behavioral features of ASD are present and detectible in 53% of 12-month-old infants with FXS (8 out of n = 15) and that motor and social–communication features appear to be salient features that signal risk for elevated ASD symptoms over the first 12 to 18 months (Brewe, Reisinger, Adlof, & Roberts, 2018; Hogan et al, 2017; Rague, Caravella, Tonnsen, Klusek, & Roberts, 2018; Roberts, Tonnsen, McCary, Caravella, & Shinkareva, 2016; Will, Bishop, & Roberts, 2019). Social avoidance has also been documented in the first year of life in infants with FXS with a steady increase across early childhood (Roberts et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2020

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Prospective 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.

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Section: Introductionmentioning

confidence: 99%

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

et al. 2020

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“…In the last five years, some longitudinal studies have explored the early emerging symptoms and prompt intervention in infants with high familial risk for ASD [12,13]. In contrast, very few research studies have addressed this topic in syndromic or genetic forms of ASD [14,15].…”

Section: Introductionmentioning

confidence: 99%

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

Moavero

Benvenuto

Gialloreti

et al. 2019

JCM

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Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis Complex (TSC), but we are not still able to reliably predict which infants will develop ASD. This study aimed to identify the early clinical markers of ASD and/or developmental delay (DD) in infants with an early diagnosis of TSC. We prospectively evaluated 82 infants with TSC (6–24 months of age), using a detailed neuropsychological assessment (Bayley Scales of Infant Development—BSID, and Autism Diagnostic Observation Schedule—ADOS), in the context of the EPISTOP (Long-term, prospective study evaluating clinical and molecular biomarkers of EPIleptogenesiS in a genetic model of epilepsy—Tuberous SclerOsis ComPlex) project (NCT02098759). Normal cognitive developmental quotient at 12 months excluded subsequent ASD (negative predictive value 100%). The total score of ADOS at 12 months clearly differentiated children with a future diagnosis of ASD from children without (p = 0.012). Atypical socio-communication behaviors (p < 0.001) were more frequently observed than stereotyped/repetitive behaviors in children with ASD at 24 months. The combined use of BSID and ADOS can reliably identify infants with TSC with a higher risk for ASD at age 6–12 months, allowing for clinicians to target the earliest symptoms of abnormal neurodevelopment with tailored intervention strategies.

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“…16,17 Although less research has explored prelinguistic skills in FXS, these studies consistently demonstrate early gesture impairments. [18][19][20] Given the established risk for language disorders associated with DS and FXS, children with these conditions usually begin to receive early intervention services within the first year of life as both of these neurogenetic disorders can be diagnosed pre-, per-, or postnatally. 21,22 However, it is important to note that while FXS can be diagnosed pre-, per-, or postnatally, diagnostic testing is not commonly performed at these times.…”

Section: Early Language In Down's Syndrome and Fragile X Syndromementioning

confidence: 99%

“…For populations with gesture strengths, such as DS, 17,81,89 more instances of word-referent transparency may be driven by the child as illustrated by two of our three case examples. For children with weakness in gesture, such as those with FXS, [18][19][20]90 it may be even more difficult for mothers of children with FXS to provide follow-in comments because their children are not using gestures frequently. Although other potentially communicative behaviors, like vocalizations or eye-gaze, can be used by children to indicate their interest, vocalizations may occur infrequently, and eye gaze is more difficult to notice.…”

Section: Implications For Maximizing Input Quality For Children With Neurogenetic Disordersmentioning

confidence: 99%

Characterizing the Richness of Maternal Input for Word Learning in Neurogenetic Disorders

Mattie

Hadley

2021

Semin Speech Lang

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Promoting language abilities, including early word learning, in children with neurogenetic disorders with associated language disorders, such as Down syndrome (DS) and fragile X syndrome (FXS), is a main concern for caregivers and clinicians. For typically developing children, the quality and quantity of maternal language input and maternal gesture use contributes to child word learning, and a similar relation is likely present in DS and FXS. However, few studies have examined the combined effect of maternal language input and maternal gesture use on child word learning. We present a multidimensional approach for coding word-referent transparency in naturally occurring input to children with neurogenetic disorders. We conceptualize high-quality input from a multidimensional perspective, considering features from linguistic, interactive, and conceptual dimensions simultaneously. Using case examples, we highlight how infrequent the moments of word-referent transparency are for three toddlers with DS during play with their mothers. We discuss the implications of this multidimensional framework for children with DS and FXS, including the clinical application of our approach to promote early word learning for these children.

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Early gesture use in fragile X syndrome

Cited by 12 publications

References 42 publications

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

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

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

Characterizing the Richness of Maternal Input for Word Learning in Neurogenetic Disorders

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