Walking Mechanics and Movement Pattern Variability in Monozygotic Twins with Autism Spectrum Disorder

AbstractThe study of monozygotic (MZ) twins enables researchers to understand the inheritability and manifestation of many disorders due to the presence of near identical genotypes. It is reasonable to speculate that the heterogeneous manifestations of Autism Spectrum Disorder (ASD) present unique movement challenges to each MZ twin, regardless of nearly identical genotypes. However, such a study has yet to be performed. Additionally, no study has attempted to quantify the movement dysfunctions previously observed in this population. The purpose of this investigation was to examine gait parameters and movement pattern variability within one pair of monozygotic (MZ) twins diagnosed with ASD. One nine-year old pair of MZ twins with clinical diagnoses of ASD walked over-ground while kinetic and kinematic gait parameters were obtained. Point-by-point statistical and effect size (ES) analyses were performed throughout the gait cycle between twins. Movement pattern variability was quantified to explain the mechanical differences observed. Significant, ( α 
Source: Journal of Developmental and Physical Disabilities - Category: Disability Source Type: research

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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
For some time now I’ve been talking about incorporating sibling participation into speech-language intervention. I know what you’re thinking: It’s hard enough to focus on goals, take data, and find functional, motivating activities to help generalize skills into daily routines. Why add one more thing into the mix? Here’s why … sibling participation can create a win-win situation for both the sibling and the child needing services. Siblings often feel left out and confused about their brother’s or sister’s special needs. I experience this first-hand as a sibling of a sister who stu...
Source: American Speech-Language-Hearing Association (ASHA) Press Releases - Category: Speech-Language Pathology Authors: Tags: Health Care Private Practice Schools Slider Speech-Language Pathology Autism Spectrum Disorder Early Intervention Fluency Disorders Language Disorders Source Type: blogs
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