Early development in males with Fragile X syndrome: A review of the literature

2002 ◽  
Vol 57 (3) ◽  
pp. 174-178 ◽  
Author(s):  
Alice S.M. Kau ◽  
Walter A. Meyer ◽  
Walter E. Kaufmann
Keyword(s):  
Fragile X Syndrome ◽  
Early Development ◽  
Fragile X ◽  
Review Of The Literature

scholarly journals MosaicFMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature

2008 ◽  
Vol 146A (10) ◽  
pp. 1358-1367 ◽  
Author(s):  
Bradford Coffee ◽  
Morna Ikeda ◽  
Dejan B. Budimirovic ◽  
Lawrence N. Hjelm ◽  
Walter E. Kaufmann ◽  
...  
Keyword(s):  
Case Report ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Review Of The Literature

scholarly journals Fragile X Syndrome in Korea: A Case Series and a Review of the Literature

2008 ◽  
Vol 23 (3) ◽  
pp. 470 ◽  
Author(s):  
Shin-Young Yim ◽  
Bo Hyun Jeon ◽  
Jung A Yang ◽  
Hyon J. Kim
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Case Series ◽  
Review Of The Literature

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

2021 ◽  
Vol 12 ◽  
Author(s):  
Abigail Hogan ◽  
Erin Hunt ◽  
Kayla Smith ◽  
Conner Black ◽  
Katherine Bangert ◽  
...  
Keyword(s):  
Early Childhood ◽  
Longitudinal Study ◽  
Fragile X Syndrome ◽  
Early Development ◽  
Developmental Change ◽  
Fragile X ◽  
Anxiety Symptoms ◽  
Heart Activity ◽  
General Arousal ◽  
Infancy And Early Childhood

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.

Fragile X syndrome and deletions in FMR1: New case and review of the literature

1997 ◽  
Vol 72 (4) ◽  
pp. 430-434 ◽  
Author(s):  
Lyn S. Hammond ◽  
Michelle M. Macias ◽  
Jack C. Tarleton ◽  
G. Shashidhar Pai
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Review Of The Literature

Variability in FMRP and Early Development in Males With Fragile X Syndrome

2001 ◽  
Vol 106 (1) ◽  
pp. 16 ◽  
Author(s):  
Donald B. Bailey ◽  
Deborah D. Hatton ◽  
Flora Tassone ◽  
Martie Skinner ◽  
Annette K. Taylor
Keyword(s):  
Fragile X Syndrome ◽  
Early Development ◽  
Fragile X

Living with Fragile X Syndrome

2017 ◽  
Author(s):  
◽  
Rebecca Schira ◽  
Samantha Alexander ◽  
Noelani Brisbane ◽  
Kaitlyn Williams
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X
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