Language Regression in an Atypical SLC6A1 Mutation

We present a child with a SLC6A1 mutation with language delay and autistic spectrum disorder and remind the reader that the identification of specific mutations in these conditions increase the likelihood of identification of potential therapeutic targets.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

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ConclusionThe design and implementation of more scalable methods to disseminate research remotely can substantially improve access to clinical trials in rare neurodevelopmental disorders. The lessons learned from this trial can serve as a model for future studies not only in rare conditions, but in other populations that lack adequate access, such as families with limited financial or clinical resources. Continued efforts will further refine delivery methods to enhance efficiency and ease of these delivery systems for families.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
Publication date: Available online 17 January 2020Source: Neurochemistry InternationalAuthor(s): Pamela R. Westmark, Alejandra Gutierrez, Aaron K. Gholston, Taralyn M. Wilmer, Cara J. WestmarkAbstractThe ketogenic diet is highly effective at attenuating seizures in refractory epilepsy and accumulating evidence in the literature suggests that it may be beneficial in autism. To our knowledge, no one has studied the ketogenic diet in any fragile X syndrome (FXS) model. FXS is the leading known genetic cause of autism. Herein, we tested the effects of chronic ketogenic diet treatment on seizures, body weight, ketone and glucos...
Source: Neurochemistry International - Category: Neuroscience Source Type: research
ConclusionOur study supports the finding thatTOP2B variants may cause NDDs.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
Growth factor signaling in the brain is implicated in many neuropsychiatric disorders, including depression, autism, and epilepsy. Fibroblast growth factor 22 is a growth factor that regulates excitatory synapse development and neurogenesis in the brain. We have previously shown that adult mice in which fibroblast growth factor 22 is constitutively inactivated in all cells throughout life (fibroblast growth factor 22-null mice) show anhedonia, a core feature of depression in humans, suggesting that fibroblast growth factor 22 signaling contributes to the regulation of affective behavior. Here we asked (1) whether inactivat...
Source: NeuroReport - Category: Neurology Tags: Cellular, Molecular and Developmental Neuroscience Source Type: research
(Duke-NUS Medical School) First-of-its-kind study led by Duke-NUS Medical School and National Neuroscience Institute (NNI) applies experimental methodology using human neural cells and brain organoids to investigate mechanism underlying epileptic seizures in Angelman syndrome, an autism spectrum disorder. Findings may lead to treatment for this currently untreatable condition.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
In conclusion, school-aged children with CP very often screened positive for ASD and/or ADHD. The prevalence of ASD and ADHD is most likely underestimated in children with CP. These screening findings require further investigations.
Source: European Child and Adolescent Psychiatry - Category: Psychiatry Source Type: research
Markus is a 13-year-old Russian artist with autism and epilepsy. His work sells for thousands of dollars.
Source: BBC News | Health | UK Edition - Category: Consumer Health News Source Type: news
Abstract Autistic epileptiform regression is an uncommon but extensively described malady in children. The clinico-etiological spectrum of this entity ranges from electrical status epilepticus in sleep to various neurogenetic and neurodegenerative disorders. Identification of these disorders is crucial considering their therapeutic and prognostic implications. Simple investigations such as neuroimaging and electroencephalography with activation procedures can provide valuable diagnostic clues in resource-limited settings; facilitating targeted genetic/metabolic testing. Here we report a 3.5-year-old girl with auti...
Source: Clinical EEG and Neuroscience - Category: Neuroscience Authors: Tags: Clin EEG Neurosci Source Type: research
ConclusionMEK-ERK and MNK-eIF4E pathways regulate protein translation, and our results suggest that aberrant translation distinct in TSC1/2-deficient NPCs could play a role in neurodevelopmental defects. Our data showing upregulation of these signaling pathways by rapamycin support a strategy to combine a MEK or a MNK inhibitor with rapamycin that may be superior for TSC-associated CNS defects. Importantly, our generation of isogenic sets of NPCs from TSC patients provides a valuable platform for translatome and large-scale drug screening studies. Overall, our studies further support the notion that early developmental eve...
Source: Molecular Autism - Category: Molecular Biology Source Type: research
This study confers the discipline, frameworks, and methodologies used by different deep learning techniques to diagnose different human neurological disorders. Here, one hundred and thirty-six different articles related to neurological and neuropsychiatric disorders diagnosed using different deep learning techniques are studied. The morbidity and mortality rate of major neuropsychiatric and neurological disorders has also bee n delineated. The performance and publication trend of different deep learning techniques employed in the investigation of these diseases has been examined and analyzed. Different performance metrics ...
Source: Journal of Medical Systems - Category: Information Technology Source Type: research
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