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1
Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation.
In: Journal of neurodevelopmental disorders, vol 14, iss 1 (2022)
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2
Pragmatic Profiles of Adults with Fragile X Syndrome and Williams Syndrome
In: Brain Sciences; Volume 12; Issue 3; Pages: 385 (2022)
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3
Behavior Problems and Social Competence in Fragile X Syndrome: A Systematic Review
In: Genes; Volume 13; Issue 2; Pages: 280 (2022)
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4
Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome
In: Brain Sciences; Volume 12; Issue 5; Pages: 575 (2022)
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5
Pragmatic profiles of adults with Fragile X syndrome and Williams syndrome
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6
An Examination of Family Dynamics, Parental Responsivity, and Child Communication in Fragile X Syndrome
Potter, Sarah Nelson. - : eScholarship, University of California, 2021
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7
Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome.
In: Brain sciences, vol 11, iss 9 (2021)
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8
Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome.
In: Brain sciences, vol 11, iss 9 (2021)
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9
Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome
In: Brain Sciences ; Volume 11 ; Issue 9 (2021)
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10
Características de lenguaje oral y escrito en Síndrome de X-Frágil ; Oral and written language characteristics in X-Fragile Syndrome
Cañas Pedrosa, Sara; Santos Muriel, Noelia; Moraleda Sepúlveda, Esther. - : Asociación INFAD, 2021. : Universidad de Extremadura, 2021
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11
Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors.
In: Journal of neurodevelopmental disorders, vol 12, iss 1 (2020)
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12
Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors.
In: Journal of neurodevelopmental disorders, vol 12, iss 1 (2020)
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13
A neurophysiological model of speech production deficits in fragile X syndrome.
In: Brain communications, vol 2, iss 1 (2020)
Abstract: Fragile X syndrome is the most common inherited intellectual disability and monogenic cause of autism spectrum disorder. Expressive language deficits, especially in speech production, are nearly ubiquitous among individuals with fragile X, but understanding of the neurological bases for these deficits remains limited. Speech production depends on feedforward control and the synchronization of neural oscillations between speech-related areas of frontal cortex and auditory areas of temporal cortex. Interaction in this circuitry allows the corollary discharge of intended speech generated from an efference copy of speech commands to be compared against actual speech sounds, which is critical for making adaptive adjustments to optimize future speech. We aimed to determine whether alterations in coherence between frontal and temporal cortices prior to speech production are present in individuals with fragile X and whether they relate to expressive language dysfunction. Twenty-one participants with full-mutation fragile X syndrome (aged 7-55 years, eight females) and 20 healthy controls (matched on age and sex) completed a talk/listen paradigm during high-density EEG recordings. During the talk task, participants repeated pronounced short vocalizations of 'Ah' every 1-2 s for a total of 180 s. During the listen task, participants passively listened to their recordings from the talk task. We compared pre-speech event-related potential activity, N1 suppression to speech sounds, single trial gamma power and fronto-temporal coherence between groups during these tasks and examined their relation to performance during a naturalistic language task. Prior to speech production, fragile X participants showed reduced pre-speech negativity, reduced fronto-temporal connectivity and greater frontal gamma power compared to controls. N1 suppression during self-generated speech did not differ between groups. Reduced pre-speech activity and increased frontal gamma power prior to speech production were related to less intelligible speech as well as broader social communication deficits in fragile X syndrome. Our findings indicate that coordinated pre-speech activity between frontal and temporal cortices is disrupted in individuals with fragile X in a clinically relevant way and represents a mechanism contributing to prominent speech production problems in the disorder.
Keyword: 2.1 Biological and endogenous factors; Behavioral and Social Science; Brain Disorders; Clinical Research; EEG; event-related potential; fragile X syndrome; Intellectual and Developmental Disabilities (IDD); Mental Health; Neurological; neurophysiology; Neurosciences; Pediatric; speech production
URL: https://escholarship.org/uc/item/06m5m363
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14
Review of Autism Profiles and Response to Sertraline in Fragile X Syndrome-Associated Autism vs. Non-syndromic Autism; Next Steps for Targeted Treatment.
Rajaratnam, Akash; Potter, Laura Axelrod; Biag, Hazel Maridith Barlahan. - : eScholarship, University of California, 2020
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15
The Relationship between Expressive Language Sampling and Clinical Measures in Fragile X Syndrome and Typical Development.
In: Brain sciences, vol 10, iss 2 (2020)
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16
The Relationship between Expressive Language Sampling and Clinical Measures in Fragile X Syndrome and Typical Development
In: Brain Sciences ; Volume 10 ; Issue 2 (2020)
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17
Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment
In: Brain Sciences ; Volume 10 ; Issue 4 (2020)
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18
Repeat-Associated Non-Aug Translation Initiation at Expanded Ggggcc Repeats in c9orf72-Associated Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Green, Katelyn. - 2020
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19
Excitatory-Inhibitory Circuit Dysregulation During The Auditory Cortex Critical Period In The Fragile X Syndrome Mouse Model
In: Publicly Accessible Penn Dissertations (2020)
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20
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019)
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