Gender Differences in Neurodevelopmental Disorders: Autism and Fragile X Syndrome

2010 ◽  
pp. 209-229 ◽  
Author(s):  
Nicole J. Rinehart ◽  
Kim M. Cornish ◽  
Bruce J. Tonge
Keyword(s):  
Gender Differences ◽  
Fragile X Syndrome ◽  
Neurodevelopmental Disorders ◽  
Fragile X

Fragile X syndrome

2020 ◽  
Vol 13 (12) ◽  
pp. 712-716
Author(s):  
Rebecca Dunphy
Keyword(s):  
Primary Care ◽  
Learning Disability ◽  
Fragile X Syndrome ◽  
Clinical Features ◽  
Neurodevelopmental Disorders ◽  
Fragile X ◽  
Healthcare Services ◽  
Diagnosis And Management ◽  
Genetic Causes

Fragile X syndrome is one of the most common genetic causes of learning disability. Patients with this and other neurodevelopmental disorders will often present to primary care before a diagnosis is made, and this can be challenging and worrying for patients and other carers. These patients may face a number of barriers in accessing healthcare services including communication, behavioural and sensory difficulties. It may be difficult to understand whether symptoms are part of their condition or because of a comorbidity that needs to be addressed. Input from families and carers can be vital in helping with diagnosis. This article aims to outline the key clinical features, diagnosis and management of this syndrome.

Self-Injurious Behavior and Fragile X Syndrome: Findings From the National Fragile X Survey

2010 ◽  
Vol 115 (6) ◽  
pp. 473-481 ◽  
Author(s):  
Frank J. Symons ◽  
Breanne J. Byiers ◽  
Melissa Raspa ◽  
Ellen Bishop ◽  
Donald B. Bailey
Keyword(s):  
Gender Differences ◽  
Fragile X Syndrome ◽  
Pain Sensitivity ◽  
Fragile X ◽  
Attention Problems ◽  
Matched Pair ◽  
Comorbid Conditions ◽  
Prevalence Estimates ◽  
Pair Comparisons ◽  
Sleep Difficulties

Abstract We used National Fragile X Survey data in order to examine reported self-injurious behavior (SIB) to (a) generate lifetime and point prevalence estimates, (b) document detailed features of SIB (frequency, types, location, severity) in relation to gender, and (c) compare comorbid conditions between matched pairs (SIB vs. no SIB). Results indicate significant gender differences in frequency, topography, and location of SIB as well as sleep difficulties, comorbid conditions, pain sensitivity, and seizures. Matched pair comparisons (SIB vs. no SIB) revealed differences for males in sensory and attention problems, hyperactivity, aggression, autism, and anxiety and for females, in autism, attention, and anxiety. These results further clarify gender differences as well as comorbidity patterns between children with fragile X syndrome with and without SIB.

scholarly journals Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome

2017 ◽  
Vol 17 (4) ◽  
pp. 280-299 ◽  
Author(s):  
Elizabeth M. Berry-Kravis ◽  
Lothar Lindemann ◽  
Aia E. Jønch ◽  
George Apostol ◽  
Mark F. Bear ◽  
...  
Keyword(s):  
Drug Development ◽  
Fragile X Syndrome ◽  
Neurodevelopmental Disorders ◽  
Fragile X ◽  
Lessons Learned

The behavioral neurogenetics of fragile X syndrome: Analyzing gene–brain–behavior relationships in child developmental psychopathologies

2003 ◽  
Vol 15 (4) ◽  
pp. 927-968 ◽  
Author(s):  
ALLAN L. REISS ◽  
CHRISTOPHER C. DANT
Keyword(s):  
Environmental Factors ◽  
Fragile X Syndrome ◽  
Neurodevelopmental Disorders ◽  
Fragile X ◽  
Single Gene ◽  
Structure And Function ◽  
Research Approach ◽  
And Function ◽  
And Behavior ◽  
Brain Behavior

Analyzing gene–brain–behavior linkages in childhood neurodevelopmental disorders, a research approach called “behavioral neurogenetics,” has provided new insights into understanding how both genetic and environmental factors contribute to complex variations in typical and atypical human development. Research into etiologically more homogeneous disorders, such as fragile X syndrome, in particular, allows the use of more precise metrics of genetic risk so that we can more fully understand the complex pathophysiology of childhood onset neurodevelopmental disorders. In this paper, we review our laboratory's behavioral neurogenetics research by examining gene–brain–behavior relationships in fragile X syndrome, a single-gene disorder that has become a well-characterized model for studying neurodevelopmental dysfunction in childhood. Specifically, we examine genetic influences, trajectories of cognition and behavior, variation in brain structure and function, and biological and environmental factors that influence developmental and cognitive outcomes of children with fragile X. The converging approaches across these multilevel scientific domains indicate that fragile X, which arises from disruption of a single gene leading to the loss of a specific protein, is associated with a cascade of aberrations in neurodevelopment, resulting in a central nervous system that is suboptimal with respect to structure and function. In turn, structural and functional brain alterations lead to early disruption in emotion, cognition, and behavior in the child with fragile X. The combination of molecular genetics, neuroimaging, and behavioral research have advanced our understanding of the linkages between genetic variables, neurobiological measures, IQ, and behavior. Our research and that of others demonstrates that neurobehavior and neurocognition, genetics, and neuroanatomy are all different views of the same intriguing biological puzzle, a puzzle that today is rapidly emerging into a more complete picture of the intricate linkages among gene, brain, and behavior in developing children. Understanding the complex multilevel scientific perspective involved in fragile X will also contribute to our understanding of normal development by highlighting developmental events throughout the life span, thereby helping us to delineate the boundaries of pathology.

scholarly journals Fragile X syndrome, the search for a targeted treatment

2019 ◽  
Vol 5 (1) ◽  
pp. 12
Author(s):  
Shimriet Zeidler ◽  
Rob Willemsen
Keyword(s):  
Fragile X Syndrome ◽  
Neurodevelopmental Disorders ◽  
Fragile X ◽  
Short Review ◽  
Autism Spectrum ◽  
Targeted Treatment ◽  
Adequate Treatment ◽  
Model Studies ◽  
Physical Problems ◽  
Spectrum Disorders

Fragile X syndrome (FXS), the most common monogenetic cause of intellectual disability and autism spectrum disorders, is characterized by behavioral and physical problems. There is currently no adequate treatment available. While animal model studies seemed extremely promising, no success has been achieved in the larger clinical trials with human FXS patients. This short review describes the steps that have been taken in the development of a targeted treatment for FXS. Possible reasons for the lack of translation between animal models and human FXS patients are being explored and solutions are being proposed. The FXS story illustrates pitfalls and possibilities in translational research, that might especially be applicable for other neurodevelopmental disorders as well. 

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