Take The Autism Challenge

Like many people with autism, my son Danny enjoys Pixar movies and he likes seeing them over and over. Recently, one exchange from the original Toy Story movie started going through my mind. Buzz: Sheriff, this is no time to panic. Woody: This is the perfect time to panic! For me, it’s the perfect time to panic, because Danny turns 21 next week and this is his last year of school. Since he was diagnosed with autism at the age of three, I hoped that he would be able to live and work independently when he grew up. I fought for him to be in mainstream classrooms with a shadow teacher when he was younger. And Danny is doing very well, but he hasn’t “lost his diagnosis.” He is friendly and loves to talk. But he’s more likely to chat about our cat that died during George W. Bush’s first term than tell you about what he did today. He loves going to all kinds of places, but can’t travel on his own because, although he navigates like a GPS, he is so impulsive that he doesn’t look both ways when he crosses the street. He has been working on these issues for years, but it would be absurd to think that he will master them by the end of August, when his school year ends. Nothing in my life has ever been as scary as trying to figure out what will be with Danny when his father and I can no longer care for him. It’s like knowing you will have to jump off a cliff and not knowing whether your child will be left wandering alone near th...
Source: Healthy Living - The Huffington Post - Category: Consumer Health News Source Type: news

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This article is protected by copyright. All rights reserved. PMID: 30414172 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
Abstract Fragile X syndrome (FXS) is the most frequent inherited form of intellectual disability and autism spectrum disorder. Loss of the fragile X mental retardation protein, FMRP, engenders molecular, behavioral, and cognitive deficits in FXS patients. Experiments using different animal models advanced our knowledge of the pathophysiology of FXS and led to the discovery of many targets for drug treatments. In this review, we discuss the potential of metformin, an antidiabetic drug approved by the US Food and Drug Administration, to correct core symptoms of FXS and other neurological disorders in humans. We summ...
Source: Annual Review of Medicine - Category: General Medicine Authors: Tags: Annu Rev Med Source Type: research
A small isolated town in Colombia is home to a large cluster of people with fragile X syndrome —a genetic disorder that leads to intellectual disability, physical abnormalities, and sometimes autism. Spectrum staff reporter Hannah Furfaro joins host Sarah Crespi to discuss the history of fragile X in the town of Ricaurte and the future of the people who live there. Also this week, we talk about greening up grass. Lawns of green grass pervade urban areas all around the world, regardless of climate, but the cost of maintaining them may outweigh their benefits. Host Meagan Cantwell talks with Maria Ignatieva of The Uni...
Source: Science Magazine Podcast - Category: Science Authors: Tags: Scientific Community Source Type: podcasts
Fragile X syndrome (FXS) is the most frequent form of heritable intellectual disability and autism. Fragile X (Fmr1-KO) mice exhibit aberrant dendritic spine structure, synaptic plasticity, and cognition. Autophagy is a catabolic process of programmed degradation and recycling of proteins and cellular components via the lysosomal pathway. However, a role...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: PNAS Plus Source Type: research
Introduction: Fragile X Syndrome (FXS) is the leading form of inherited intellectual disability and autism spectrum disorder, caused by a tri-nucleotide CGG repeat expansion in the promoter region of the FMR1 gene [1]. The cognitive profile in FXS includes deficits in executive control and in visuospatial abilities, as well as in language and severe behavioural alterations with hyperactivity, impulsivity, anxiety: the condition often is associated with medical comorbidities among which epilepsy [1].
Source: Gait and Posture - Category: Orthopaedics Authors: Source Type: research
This article is protected by copyright. All rights reserved. PMID: 30132892 [PubMed - as supplied by publisher]
Source: The Journal of Physiology - Category: Physiology Authors: Tags: J Physiol Source Type: research
Mutations in the fragile X mental retardation 1 gene (FMR1) cause the most common inherited human autism spectrum disorder. FMR1 influences messenger RNA (mRNA) translation, but identifying functional targets has been difficult. We analyzed quiescent Drosophila oocytes, which, like neural synapses, depend heavily on translating stored mRNA. Ribosome profiling revealed that FMR1 enhances rather than represses the translation of mRNAs that overlap previously identified FMR1 targets, and acts preferentially on large proteins. Human homologs of at least 20 targets are associated with dominant intellectual disability, and 30 ot...
Source: ScienceNOW - Category: Science Authors: Tags: Development reports Source Type: news
Conclusions: Critical gaps in the literature are highlighted. Research in this area is especially limited for Down syndrome and fragile X syndrome. Future directions for taking learning theories into account in interventions for children with intellectual disability are discussed, with a focus on the importance of language input. PMID: 30120444 [PubMed - in process]
Source: Language, Speech, and Hearing Services in Schools - Category: Speech-Language Pathology Authors: Tags: Lang Speech Hear Serv Sch Source Type: research
Conclusions Critical gaps in the literature are highlighted. Research in this area is especially limited for Down syndrome and fragile X syndrome. Future directions for taking learning theories into account in interventions for children with intellectual disability are discussed, with a focus on the importance of language input.
Source: Language, Speech, and Hearing Services in Schools - Category: Audiology Source Type: research
Conclusions and implicationsThese data provide important information on the mastery of both foundational and more complex adaptive skills in males with FXS. Both functional academic and daily living skills were predictive of measures of independence above and beyond other child and family characteristics. These findings point to the need to focus interventions to support the attainment of independence in males with FXS.
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
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