How gene mutation causes autism and intellectual disability

(Northwestern University) Scientists have discovered why a specific genetic mutation causes intellectual disability and autism spectrum disorder in children. The mutation results in fewer brain synapses, making it harder for the brain to learn. The discovery offers a new target for treatment.
Source: EurekAlert! - Social and Behavioral Science - Category: International Medicine & Public Health Source Type: news

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NHS England asked an “inadequate” hospital for people with learning disabilities and autism to admit a patient, despite the service having a “voluntary” ban on admissions in place — and shortly before inspectors decided to impose a legal restriction.
Source: HSJ - Category: UK Health Source Type: news
We report seven, unrelated patients with developmental delays or intellectual disability and heterozygous, de novo sequence variants in JMJD1C. All patients had developmental delays, but there were no consistent additional findings. Two patients were reported to have seizures for which there was no other identified cause. De novo, deleterious sequence variants in JMJD1C have previously been reported in patients with autism spectrum disorder and a phenotype resembling classical Rett syndrome, but only one JMJD1C variant has undergone functional evaluation. In all of the seven patients in this report, there was a plausible, ...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
AbstractN ε‐lysine acetylation of nascent glycoproteins within the endoplasmic reticulum (ER) lumen regulates the efficiency of the secretory pathway. The ER acetylation machinery consists of the membrane transporter, acetyl‐CoA transporter 1 (AT‐1/SLC33A1), and two acetyltransferases, ATase1/NAT8B and ATase2/NAT8. Dysfunctional ER acetylation is associated with severe neurological diseases with duplication ofAT ‐1/SLC33A1 being associated with autism spectrum disorder, intellectual disability, and dysmorphism. Neuron ‐specific AT‐1 overexpression in the mouse alters neuron morphology and function, caus...
Source: Journal of Neurochemistry - Category: Neuroscience Authors: Tags: ORIGINAL ARTICLE Source Type: research
ConclusionsOur pilot RCT demonstrated the feasibility and acceptability of using high frequency rTMS targeting DLPFC in youth and young adults with autism. No evidence for efficacy of active versus sham rTMS on EF performance was found. However, we found promising preliminary evidence of EF performance improvement following active versus sham rTMS in participants with ASD with more severe adaptive functioning deficits. Future work could focus on examining efficacy of rTMS in this higher-need population.Clinical Trial RegistrationRepetitive Transcranial Magnetic Stimulation (rTMS) for Executive Function Deficits in Autism S...
Source: Brain Stimulation - Category: Neurology Source Type: research
This article describes and discusses the indications, technical aspects and results of refractive surgery for children with developmental delay and intellectual disability. PMID: 31940059 [PubMed - as supplied by publisher]
Source: Der Ophthalmologe - Category: Opthalmology Authors: Tags: Ophthalmologe Source Type: research
___ Parents pay thousands for ‘brain training’ to help kids with ADHD and autism. But does it work? (NBC News): “…As the number of children diagnosed with ADHD and autism surges in the U.S., according to federal data, and as parents become exasperated with treatments that don’t work or involve medications that carry the risk of side effects, neurotechnology industry analysts predict the demand for programs like these will only grow… Much of the growth in brain training is in apps and games that people use at home or in school, said Alvaro Fernandez, CEO of SharpBrains, a research firm ...
Source: SharpBrains - Category: Neuroscience Authors: Tags: Cognitive Neuroscience Education & Lifelong Learning Technology adhd autism Brain Balance brain training brain training centers BrainRx Direct-to-Consumer LearningRx Neurotechnology Source Type: blogs
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
People with learning disabilities or autism will continue to suffer “serious side-effects” amid further delays to a national programme aimed at stopping overuse of medicines to control their behaviour, a former national clinical director has warned.
Source: HSJ - Category: UK Health Source Type: news
(University of Connecticut) A startup with roots at the University of Connecticut is now bringing robots into special education classrooms around the world. Movia Robotics Inc., based in Bristol, Conn., has developed technology that helps children on the autism spectrum with social skills, learning readiness, and academics.
Source: EurekAlert! - Social and Behavioral Science - Category: International Medicine & Public Health Source Type: news
Publication date: 7 January 2020Source: Cell Reports, Volume 30, Issue 1Author(s): Monica Frega, Martijn Selten, Britt Mossink, Jason M. Keller, Katrin Linda, Rebecca Moerschen, Jieqiong Qu, Pierre Koerner, Sophie Jansen, Astrid Oudakker, Tjitske Kleefstra, Hans van Bokhoven, Huiqing Zhou, Dirk Schubert, Nael Nadif KasriSummaryPathogenic mutations in either one of the epigenetic modifiers EHMT1, MBD5, MLL3, or SMARCB1 have been identified to be causative for Kleefstra syndrome spectrum (KSS), a neurodevelopmental disorder with clinical features of both intellectual disability (ID) and autism spectrum disorder (ASD). To und...
Source: Cell Reports - Category: Cytology Source Type: research
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