Article
Genetics & Heredity
Olga Cregenzan-Royo, Carme Brun-Gasca, Albert Fornieles-Deu
Summary: This systematic review examined studies conducted in the past 20 years on behavior and social problems in Fragile X syndrome (FXS), taking into account environmental and personal variables that may influence these problems. The review found that attention deficit hyperactivity disorder (ADHD) remains the most significant behavior problem in FXS, and behavior problems and social competence have remained stable over the past 20 years. Comorbidity with autism in FXS individuals increases behavior problems and worsens social competence profiles. Environmental factors and parental characteristics play a role in behavior problems and social competence.
Article
Pediatrics
Elizabeth Berry-Kravis, Robyn A. Filipink, Richard E. Frye, Sailaja Golla, Stephanie M. Morris, Howard Andrews, Tse-Hwei Choo, Walter E. Kaufmann, FORWARD Consortium
Summary: This study investigated the prevalence of seizures in individuals with Fragile X syndrome and found it to be 12%, with males having a significantly higher rate than females. Factors such as autism spectrum disorder, current sleep apnea, and severe intellectual disability were associated with seizures in FXS patients.
FRONTIERS IN PEDIATRICS
(2021)
Review
Clinical Neurology
Ramkumar Aishworiya, Dragana Protic, Randi Hagerman
Summary: There is increasing recognition of the heterogeneity of origin of cases of autism spectrum disorder (ASD), with genetic etiology identified in 20-40% of cases. The Fragile X premutation state is a newly discovered disease state associated with various disorders, including ASD, and understanding molecular mechanisms may facilitate targeted treatments in the future.
JOURNAL OF NEUROLOGY
(2022)
Article
Psychiatry
Lauren Bush, Gary E. Martin, Emily Landau, Molly Losh
Summary: This study found overlapping and divergent patterns in communicative interactions between children with FXS and ASD, as well as their parents. Differences in pragmatic language difficulties were observed in different situational contexts, with parental language styles impacting child language outcomes. This highlights the complex and multifactorial nature of impaired pragmatic skills in children with FXS and other neurodevelopmental disorders, with implications for targeted interventions.
FRONTIERS IN PSYCHIATRY
(2021)
Article
Endocrinology & Metabolism
Tse-Hwei Choo, Qing Xu, Dejan Budimirovic, Reymundo Lozano, Amy N. Esler, Richard E. Frye, Howard Andrews, Milen Velinov
Summary: Individuals with fragile X syndrome (FXS) have growth abnormalities, with lower height and higher BMI. This issue is more prominent in individuals taking antipsychotic medication and females with severe intellectual disability.
Article
Biochemistry & Molecular Biology
Dragana D. Protic, Ramkumar Aishworiya, Maria Jimena Salcedo-Arellano, Si Jie Tang, Jelena Milisavljevic, Filip Mitrovic, Randi J. Hagerman, Dejan B. Budimirovic
Summary: FXS is a neurodevelopmental disorder that can be improved through early diagnosis and interventions targeting behavior symptoms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Psychology, Developmental
Heather Fielding-Gebhardt, Shelley L. Bredin-Oja, Steven F. Warren, Nancy C. Brady
Summary: Accurate representation of ASD in FXS is essential for the field. Different classification methods yielded discrepant results, suggesting that a singular measure of autism symptomology is insufficient to characterize autism in FXS.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2021)
Article
Psychology, Developmental
Sayyed Ali Samadi, Roy McConkey, Ameneh Mahmoodizadeh
Summary: The study examined the use of the Autism Diagnostic Interview-Revised in Iran to diagnose children with autism spectrum disorder, confirming its suitability in the Iranian culture and effectiveness in identifying children with autism spectrum disorder.
Review
Cell Biology
Toshihiro Nomura
Summary: The imbalance of excitatory-inhibitory (E-I) balance has been implicated in various neurological and psychiatric diseases, including autism spectrum disorder (ASD). Fragile X syndrome (FXS) is a single-gene disorder that is the most common known cause of ASD, and deficits in inhibitory circuits in FXS tip the E-I balance towards excitation. Manipulating the activity of inhibitory interneurons can ameliorate symptoms in FXS, suggesting the potential for targeting interneurons to correct disrupted E-I balance in FXS.
Article
Psychology, Developmental
Angel Belle C. Dy, Lourdes Bernadette S. Tanchanco, Jenica Clarisse Y. Sy, Myla Dominicina Levantino, Randi J. Hagerman
Summary: This study aimed to determine the presence of FXS or premutation carriers among Filipino children with autism and describe the phenotypic characteristics of the identified cases.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Psychology, Multidisciplinary
Angela John Thurman, Amanda Dimachkie Nunnally
Summary: This study compared joint attention between preschool-aged boys with autism and fragile X syndrome (FXS). While joint attention appeared similar, differences were observed after controlling for other factors, particularly in language and anxiety symptoms.
FRONTIERS IN PSYCHOLOGY
(2022)
Article
Genetics & Heredity
V. Courchesne, R. Bedford, A. Pickles, E. Duku, C. Kerns, P. Mirenda, T. Bennett, S. Georgiades, I. M. Smith, W. J. Ungar, T. Vaillancourt, A. Zaidman-Zait, L. Zwaigenbaum, P. Szatmari, M. Elsabbagh
Summary: This study explored the association between age and non-verbal IQ on 15 RRB symptoms in children with ASD over time. Results showed that the proportion of children showing RRB tended to diminish with age, except for sensitivity to noise and circumscribed interests. Higher NVIQ was associated with more stable behavior over time, while lower NVIQ was associated with a higher prevalence of certain RRB.
Article
Nutrition & Dietetics
Cara J. Westmark
Summary: Long-term or exclusive breastfeeding is associated with reduced prevalence of key comorbidities in FXS, however, it is also linked to the earlier development of gastrointestinal problems and allergies.
Article
Multidisciplinary Sciences
Sameer Aryal, Francesco Longo, Eric Klann
Summary: Through ribosome profiling and RNA sequencing, we found reduced ribosome footprint abundance in the majority of differentially translated genes in FXS mice, which can be corrected by genetic reduction of S6K1. Additionally, genetic removal of S6K1 prevented alterations in translation efficiencies with coding sequence length across mRNAs in FXS mouse cortices.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Cell & Tissue Engineering
Ai Zhang, Irina Sokolova, Alain Domissy, Joshua Davis, Lee Rao, Kagistia Hana Utami, Yanling Wang, Randi J. Hagerman, Mahmoud A. Pouladi, Pietro Sanna, Michael J. Boland, Jeanne F. Loring
Summary: This study investigates the effects of Fragile X Syndrome (FXS) on GABAergic neurogenesis and suggests that loss of FMRP prolongs the proliferative stage of progenitors, leading to immature neurons in later stages of neurogenesis. This finding has implications for understanding the development of excitatory-inhibitory circuits in FXS and may guide therapeutic interventions.
STEM CELLS TRANSLATIONAL MEDICINE
(2022)