The contribution of novel brain imaging techniques to understanding the neurobiology of mental retardation and developmental disabilities.
@article{Gothelf2005TheCO,
title={The contribution of novel brain imaging techniques to understanding the neurobiology of mental retardation and developmental disabilities.},
author={Doron Gothelf and Joyce A Furfaro and Lauren Penniman and Gary H. Glover and Allan L. Reiss},
journal={Mental retardation and developmental disabilities research reviews},
year={2005},
volume={11 4},
pages={
331-9
}
}Studying the biological mechanisms underlying mental retardation and developmental disabilities (MR/DD) is a very complex task. This is due to the wide heterogeneity of etiologies and pathways that lead to MR/DD. Breakthroughs in genetics and molecular biology and the development of sophisticated brain imaging techniques during the last decades have facilitated the emergence of a field called Behavioral Neurogenetics. Behavioral Neurogenetics focuses on studying genetic diseases with known…
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References
SHOWING 1-10 OF 64 REFERENCES
Neuroimaging studies in the evaluation of developmental delay/mental retardation
- Medicine, PsychologyAmerican journal of medical genetics. Part C, Seminars in medical genetics
- 2003
Those recognizable patterns of human malformation where neuroimaging findings seem to be relevant both toward diagnosis and management, and add to the understanding of the related behavior phenotype are covered.
Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome
- Psychology, BiologyTrends in Neurosciences
- 1999
The neuroanatomy and neuroendocrinology of fragile X syndrome.
- Psychology, BiologyMental retardation and developmental disabilities research reviews
- 2004
A review of structural imaging studies of individuals with the full mutation shows that several brain regions are enlarged, including the hippocampus, amygdala, caudate nucleus, and thalamus, even after controlling for overall brain volume, and a number of neuroendocrine studies implicating hypothalamic dysfunction in FXS are reviewed.
The behavioral neurogenetics of fragile X syndrome: Analyzing gene–brain–behavior relationships in child developmental psychopathologies
- Psychology, BiologyDevelopment and Psychopathology
- 2003
This paper examines 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 and demonstrates that neurobehavior and neurocognition, genetics, and neuroanatomy are all different views of the same intriguing biological puzzle.
Neurodevelopmental effects of the FMR-1 full mutation in humans
- Biology, PsychologyNature Medicine
- 1995
It is suggested that the FMR-1 mutation causing the fragile X syndrome leads to observable changes in neuroanatomy that may be relevant to the neurodevelopmental disability and behavioural problems observed in affected individuals.
An Experiment of Nature: Brain Anatomy Parallels Cognition and Behavior in Williams Syndrome
- Psychology, BiologyThe Journal of Neuroscience
- 2004
Findings point to specific neuroanatomical correlates for the unique topography of cognitive and behavioral features associated with this disorder.
Structural brain abnormalities associated with deletion at chromosome 22q11
- Medicine, PsychologyBritish Journal of Psychiatry
- 2001
Deletion at chromosome 22q11 is associated with brain abnormalities that are most likely neurodevelopmental and may partially explain the high prevalence of learning disability and psychiatric disorder in VCFS.
Children and adolescents with velocardiofacial syndrome: a volumetric MRI study.
- Medicine, PsychologyThe American journal of psychiatry
- 2000
Aberrant brain morphology is associated with velocardiofacial syndrome and these changes are potentially related to the language and learning deficits associated with the syndrome and may provide clues about neurodevelopmental pathways associated with schizophrenia.
Mapping adolescent brain change reveals dynamic wave of accelerated gray matter loss in very early-onset schizophrenia
- Psychology, MedicineProceedings of the National Academy of Sciences of the United States of America
- 2001
Brain mapping algorithms detected striking anatomical profiles of accelerated gray matter loss in very early-onset schizophrenia; surprisingly, deficits moved in a dynamic pattern, enveloping increasing amounts of cortex throughout adolescence.
Frontostriatal deficits in fragile X syndrome: relation to FMR1 gene expression.
- Biology, PsychologyProceedings of the National Academy of Sciences of the United States of America
- 2004
The hypothesis that frontostriatal regions typically associated with response inhibition are dysfunctional in females with fraX is supported, as reduced levels of "deactivation" were observed in the ventromedial PFC, and these reductions were correlated with the level of FMR1 gene expression.


