ReviewCurrent opinion in neurology2012
Conceptualizing neurodevelopmental disorders through a mechanistic understanding of fragile X syndrome and Williams syndrome.
Review in Current opinion in neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- Dissociation of early and late face-related processes in autism spectrum disorder and Williams syndrome.Orphanet journal of rare diseases · 2022Article
- Transient reduction in dendritic spine density in brain-specific profilin1 mutant mice is associated with behavioral deficits.Frontiers in molecular neuroscience · 2022Article
- An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes.Journal of autism and developmental disorders · 2020Observational
- The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.Cell · 2018Article
- The fragile X mutation impairs homeostatic plasticity in human neurons by blocking synaptic retinoic acid signaling.Science translational medicine · 2018Article
- Basal ganglia involvement inNeuroImage. Clinical · 2018Article
- Impaired Object Recognition but Normal Social Behavior and Ultrasonic Communication in Cofilin1 Mutant Mice.Frontiers in behavioral neuroscience · 2018Article
- Longitudinal study of cerebral surface morphology in youth with 22q11.2 deletion syndrome, and association with positive symptoms of psychosis.Journal of child psychology and psychiatry, and allied disciplines · 2017Article
- A Longitudinal fMRI Research on Neural Plasticity and Sensory Outcome of Carpal Tunnel Syndrome.Neural plasticity · 2017Article
- Updated report on tools to measure outcomes of clinical trials in fragile X syndrome.Journal of neurodevelopmental disorders · 2017Review
- Estimating individual contribution from group-based structural correlation networks.NeuroImage · 2015Article
- Schneiderian first rank symptoms and gamma oscillatory activity in neuroleptic naïve first episode schizophrenia: a 192 channel EEG study.Psychiatry investigation · 2014Article
- Revealing the neural networks associated with processing of natural social interaction and the related effects of actor-orientation and face-visibility.NeuroImage · 2014Article
- Urinary incontinence in children with special needs.Nature reviews. Urology · 2013Review
- Outcome measures for clinical trials in fragile X syndrome.Journal of developmental and behavioral pediatrics : JDBP · 2013Article
- Social brain development in williams syndrome: the current status and directions for future research.Frontiers in psychology · 2012Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
purpose of reviewThe overarching goal of this review is to compare and contrast the cognitive-behavioral features of fragile X syndrome (FraX) and Williams syndrome and to review the putative neural and molecular underpinnings of these features. Information is presented in a framework that provides guiding principles for conceptualizing gene-brain-behavior associations in neurodevelopmental disorders. RECENT
findingsAbnormalities, in particular cognitive-behavioral domains with similarities in underlying neurodevelopmental correlates, occur in both FraX and Williams syndrome including aberrant frontostriatal pathways leading to executive function deficits, and magnocellular/dorsal visual stream, superior parietal lobe, inferior parietal lobe, and postcentral gyrus abnormalities contributing to deficits in visuospatial function. Compelling cognitive-behavioral and neurodevelopmental contrasts also exist in these two disorders, for example, aberrant amygdala and fusiform cortex structure and function occurring in the context of contrasting social behavioral phenotypes, and temporal cortical and cerebellar abnormalities potentially underlying differences in language function. Abnormal dendritic development is a shared neurodevelopmental morphologic feature between FraX and Williams syndrome. Commonalities in molecular machinery and processes across FraX and Williams syndrome occur as well - microRNAs involved in translational regulation of major synaptic proteins; scaffolding proteins in excitatory synapses; and proteins involved in axonal development. SUMMARY: Although the genetic variations leading to FraX and Williams syndrome are different, important similarities and contrasts in the phenotype, neurocircuitry, molecular machinery, and cellular processes in these two disorders allow for a unique approach to conceptualizing gene-brain-behavior links occurring in neurodevelopmental disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.