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Neurodevelopmental disorders [PDF]
Neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder, although most commonly considered in childhood, can be lifelong conditions. In this Personal View that is shaped by clinical experience and research, we adopt a conceptual approach.
Thapar, Anita +2 more
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The Epigenome in Neurodevelopmental Disorders [PDF]
Neurodevelopmental diseases (NDDs), such as autism spectrum disorders, epilepsy, and schizophrenia, are characterized by diverse facets of neurological and psychiatric symptoms, differing in etiology, onset and severity. Such symptoms include mental delay, cognitive and language impairments, or restrictions to adaptive and social behavior. Nevertheless,
Julia Reichard +3 more
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Neurodevelopmental disorders [PDF]
Recent technological advances allow us to measure how the infant brain functions in ways that were not possible just a decade ago. Although methodological advances are exciting, we must also consider how theories guide research: what we look for and how we explain what we find.
D'Souza, Hana, Karmiloff-Smith, Annette
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Epilepsy as a Neurodevelopmental Disorder [PDF]
Epilepsy is characterized by spontaneous recurrent seizures and comprises a diverse group of syndromes with different etiologies. Epileptogenesis refers to the process whereby the brain becomes epileptic and can be related to several factors, such as acquired structural brain lesions, inborn brain malformations, alterations in neuronal signaling, and ...
Yuri eBozzi +4 more
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Background Autism entails reduced communicative abilities. Approximately 30% of individuals with autism have intellectual disability (ID). Some people with autism and ID are virtually non-communicative and unable to notify their caregivers when they are ...
Emilie S. M. Kildal +6 more
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Tophaceous gout of the nose in a male FMR1 premutation carrier
Premutation alleles with 55–200 CGG repeats in FMR1 can lead to fragile X‐associated tremor/ataxia syndrome (FXTAS). In this case study, we report uncontrolled gout in a 68‐year‐old male with FXTAS with multiple sites of involvement including a rare ...
Si Jie Tang +10 more
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CTNNB1 in neurodevelopmental disorders
CTNNB1 is the gene that encodes β-catenin which acts as a key player in the Wnt signaling pathway and regulates cellular homeostasis. Most CTNNB1-related studies have been mainly focused on its role in cancer. Recently, CTNNB1 has also been found involved in neurodevelopmental disorders (NDDs), such as intellectual disability, autism, and schizophrenia.
Wenting Zhuang +6 more
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Zebrafish as a Model of Neurodevelopmental Disorders [PDF]
Neurodevelopmental disorders (NDDs) caused by aberrant brain growth and development are life-long, debilitating illnesses that markedly impair the quality of life. Animal models are a valuable tool for studying NDD pathobiology and therapies. Mounting evidence suggests the zebrafish (Danio rerio) as a useful model organism to study NDDs, possessing ...
de Abreu, Murilo S. +8 more
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Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance
Background The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment.
Donna Reid +4 more
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Neurodevelopmental disorders (NDDs) are a clinically heterogeneous group of diseases characterized by impaired brain development, which can result in intellectual disability, impaired motor and speech development, and epilepsy. On the more severe end of the phenotypic spectrum NDDs can be accompanied with a brain malformation of cortical development ...
Muhammad Waqar, Azeem, Ahsan, Nazeer
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