Autism-linked DNA deletion may derail brain development — Hot hubs: Researchers have mapped the binding partners of proteins encoded by the 16p11.2 region (red). Missing a swath of chromosome 16 with strong ties to autism disrupts proteins that are crucial for early brain development, according to a study published 18 February in Neuron1. The findings open the door to targeted interventions, says lead researcher Lilia Iakoucheva, assistant professor of psychiatry at the University of California, San Diego. “Getting to this more specific pathway is very valuable,” she says. About 1 percent of children with autism have a deletion or duplication of 16p11.2 — a 600-kilobase stretch of DNA that includes 29 genes. This region also affects head size: People with a deletion of the region have unusually large heads, whereas those with a duplication have unusually small heads.
ASPERGER SYNDROME IN GIRLS AND WOMEN: KEEPING UP APPEARANCES AND MISSED DIAGNOSIS Asperger Syndrome and High Functioning Autism In Girls and Women The female profile of Asperger Syndrome has largely been ignored in research (as compared to male research) and in definitions of Asperger Syndrome. This is due to a strong gender bias, with females known as ‘research orphans’, according to Yale’s Ami Klin. Many girls and women with Asperger Syndrome or High Functioning Autism fly under the radar undetected by health professionals or are misdiagnosed, which then leads to years of misdirected treatment and interventions. The diagnosis of Asperger Syndrome in girls and women is one of the newest areas in Autism research and in clinical/anecdotal experience. Most children referred for a diagnostic assessment for Asperger Syndrome are boys.
Autism Spectrum Disorder Autism Spectrum Disorder The term Autism Spectrum Disorders is an umbrella term used to refer to autism, Asperger Syndrome, Rett’s Disorder and pervasive developmental disorder – not otherwise specified. They share a set of diagnostic criteria based on two areas, social – communicative impairment and restrictive and repetitive behaviours (American Psychiatric Association, Diagnostic Statistical Manual DSM -5, 2014). Under the DSM-5 criteria, individuals with ASD must show symptoms from early childhood, even if they are not diagnosed until later.
First Signs of Asperger Syndrome in Bright Young Girls Pre-school – Updated November 16th, 2015 The following list is an official working screener document consisting of the unique characteristics and traits of preschool girls with Asperger Syndrome, or AspienGirls. It is not a research-based formal assessment tool. This list comes from the many pre-school girls I have worked with over the years. I have assessed, observed, diagnosed and worked with hundreds of girls and women of all ages across the lifespan. This document is based on my clinical anecdotal evidence and research by other well-known professionals. I will be modifying and/or updating this list from time to time.
Autistic Hoya: 15 Things You Should Never Say To An Autistic 1. "So is that like being retarded?" Factually speaking, Autistic people in many cases do not have an intellectual or cognitive disability, and many people with intellectual or cognitive disabilities are not also Autistic. There are some Autistic people who also have an intellectual or cognitive disability. Nevertheless, the word "retarded" is often very hurtful for Autistic people, as it is frequently used as an insult to dehumanize people with developmental and intellectual disabilities. The r-word is often used to express hatred for people with disabilities.
I Have Nonverbal Autism. Here’s What I Want You to Know. My 12-year-old son, Philip, has nonverbal autism but can communicate with others by typing. He keeps a blog where he describes his experiences living with autism and clears up common misconceptions. He wrote this essay in response to the question, “What do you want people to be aware of on Autism Awareness Day?” I want people to know autism is another way of being. I am weary of stereotypes that make us out to be less human than neurotypical people. It's Different for Girls Given the painful process it takes to get a diagnosis, this certainly seems like good news. Especially to some adults on the spectrum, who of have an especially difficult in getting the diagnosis and support they need. Why? The problem is, the common focus today is on children.
SOFTWARE Description: Objective: Creation of a word processor which allowed the simultaneous writing with text and pictograms, thus facilitating the elaboration of materials and the adaptation of texts for people with limitations in communication. Additional information: For the functioning of AraWord, the database of pictograms from the Aragonese Portal of Augmentative and Alternative Communication -ARASAAC-, has been incorporated, which allows the use of more than 8000 pictograms with their different meanings. This vocabulary will increase as new pictograms are added to the Portal. Black and White Pictograms from ARASAAC AANE - Living with Asperger Syndrome - Adults AANE staff have learned about the talents and struggles of adults with AS—and some successful strategies for addressing their challenges—through over a decade of working closely and talking extensively with over 400 adults with AS, ranging in age from 18-79, and with their parents, relatives, and spouses. We have developed a comprehensive array of services and programs to meet adults’ needs, including an Asperger’s information packet with our own 50 page guide book, telephone and face to face interviews with adults and/or family members, monthly social activities in three locations, a parents of adults support group, adult discussion/support groups, book readings, and internships in the AANE office. This information is a review of some of the general thoughts about living with Asperger Syndrome and we hope these will be helpful. Many adults with AS appear to have a very high level of functioning—but what does that actually mean? How is it that some adults can present so well?