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Astrocytes in fragile X syndrome [PDF]
Frontiers in Cellular Neuroscience, 2023 Astrocytes have an important role in neuronal maturation and synapse function in the brain. The interplay between astrocytes and neurons is found to be altered in many neurodevelopmental disorders, including fragile X syndrome (FXS) that is the most ...
Karo Talvio, Maija L. Castrén
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Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible. [PDF]
Nature Neuroscience, 2018 To uncover the circuit-level alterations that underlie atypical sensory processing associated with autism, we adopted a symptom-to-circuit approach in the Fmr1-knockout (Fmr1–/–) mouse model of Fragile X syndrome.
Anubhuti Goel +11 more
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Psychopathology in Fragile X Syndrome
Pediatric Neurology Briefs, 1989 The physical and behavioral features of the fragile X syndrome are reviewed in a paper from the Child Development Unit and Behavioral Sciences Department, Children’s Hospital, Denver.
J Gordon Millichap
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Diagnosis of Fragile X Syndrome
Pediatric Neurology Briefs, 1991 Direct diagnosis by DNA analysis of the fragile X syndrome was studied in 511 persons from 63 families with the syndrome at the Institute National de la Sante et de la Recherce Medicale (INSERM), Unite 184, Faculte de Medecine, Strasbourg, France and ...
J Gordon Millichap
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Developmental studies in fragile X syndrome
Journal of Neurodevelopmental Disorders, 2020 Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. Humans with FXS exhibit increased anxiety, sensory hypersensitivity, seizures, repetitive behaviors, cognitive inflexibility, and social behavioral ...
Khaleel A. Razak +2 more
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Developmental trajectory of communication repair in children with Fragile X Syndrome [PDF]
Autism and Developmental Language Impairments, 2020 Background and aims The development of communicative competence requires both language and social skills. The ability to repair following a communication breakdown is critical for continued conversational interchange and to ensure comprehension of bids ...
Heather Fielding-Gebhardt +2 more
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Epigenetic insights into Fragile X Syndrome [PDF]
Frontiers in Cell and Developmental BiologyFragile X Syndrome (FXS) is a genetic neurodevelopmental disorder closely associated with intellectual disability and autism spectrum disorders. The core of the disease lies in the abnormal expansion of the CGG trinucleotide repeat sequence at the 5′end ...
Liangqun Xie +8 more
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Epilepsy and Fragile X Syndrome
Pediatric Neurology Briefs, 2003 The seizure history of 136 patients with fragile X syndrome (FXS), (age range 2 to 51 years; 113 males and 23 females), were reviewed at RUSH-Presbyterian-St Luke’s Medical Center, Chicago, IL.
J Gordon Millichap
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Neural progenitor cells from an adult patient with fragile X syndrome [PDF]
BMC Medical Genetics, 2005 Background Currently, there is no adequate animal model to study the detailed molecular biochemistry of fragile X syndrome, the leading heritable form of mental impairment.
Nethercott Hubert E +6 more
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Sensory Processing Phenotypes in Fragile X Syndrome
ASN Neuro, 2018 Fragile X syndrome (FXS) is a neurodevelopmental disorder that causes intellectual disability. It is a leading known genetic cause of autism. In addition to cognitive, social, and communication deficits, humans with FXS demonstrate abnormal sensory ...
Maham Rais +3 more
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