Diagnosis

Large Genetic Deletion Leads to Autism, But Not Always

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
August 21, 2014
Abstract: 

To characterize people who carry deletions in 16p11.2 and 15q13.3, genetic regions linked to autism, two studies published this summer looked in detail at dozens of people with either deletion. The studies found that deletions in these regions lead to diverse symptoms that only sometimes include autism. The studies were published in the journals Biological Psychiatry and Genetics in Medicine.

Language Tool Aims to Measure Children's Conversation Skills

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
August 6, 2014
Abstract: 

A test designed to characterize natural, spontaneous language use in autism shows solid promise in its first trials in typically developing children. The results were published in the Journal of Autism and Developmental Disorders.The researchers assessed the ease of use and reliability of the test in 180 typically developing children in Michigan, ranging in age from 2 to 5 years. They confirmed that the youngest children can do the various tasks on the test and that the codes developed for the test match the skills of the oldest children. The researchers' goal is to build a baseline of standard scores against which the scores of children with autism or other communication disorders can be compared.

Tools for Autism Screening Must Vary with Language, Culture

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
August 1, 2014
Abstract: 

At its core, autism is the same disorder worldwide. And ideally, it should be possible to identify it consistently and accurately everywhere. But most screening methods for the disorder were developed in the U.K. and U.S., and linguistic and cultural differences can affect their performance elsewhere.

For Flagging Autism Risk, Using Two Tests is Best Option

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
June 20, 2014
Abstract: 

The average child with autism is 18 months old before his or her parents first begin to be concerned. Given the importance of early intervention, it’s crucial that parents and doctors both catch on to the symptoms as soon as possible. A study published in European Child and Adolescent Psychiatry finds that two autism screens are better than one at identifying toddlers who need specialized clinical services. These screens, such as the Modified Checklist for Autism in Toddlers (M-CHAT) and the Early Screening of Autistic Traits (ESAT), are used not to diagnose autism, but rather to identify children who need more specialized attention — for example, from a child psychiatrist or a behavioral therapist.

Request for Information (RFI): Impact of DSM-5 Changes to Diagnostic Criteria for Autism Spectrum Disorders (ASD) on Research and Services

Source: 
National Institutes of Health
Date Published: 
April 14, 2014
Abstract: 

The NIH is requesting additional input from the scientific community, health professionals, self-advocates and patient advocates about the research implications of recent changes to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) diagnostic criteria for Autism Spectrum Disorders (ASD). Responses will be accepted through May 12, 2014.

CDC Releases 2014 Community Report on Autism

Source: 
Centers for Disease Control and Prevention
Date Published: 
April 11, 2014
Abstract: 

The CDC has released its 2014 Community Report on Autism, which gives details behind the new 1 in 68 number, as well as additional state-by-state prevalence information.

IACC Issues Statement Regarding Implications of Changes in the Diagnostic Criteria for Autism Spectrum Disorder

Source: 
Interagency Autism Coordinating Committee
Date Published: 
April 2, 2014
Abstract: 

Today, on World Autism Awareness Day 2014, the Interagency Autism Coordinating Committee (IACC), issued a statement regarding the implications of changes in the diagnostic criteria for ASD that were made in the most recent update of the Diagnostic and Statistical Manual of Mental Disorders (DSM). Of particular interest are the scientific, practice, and policy implications as DSM-5 is implemented in real-world settings, especially with respect to allocation of services.

Patches of Disorganization in the Neocortex of Children with Autism

Source: 
New England Journal of Medicine
Date Published: 
March 26, 2014
Abstract: 

New evidence suggests that autism begins in the brain before birth when brain cells fail to develop properly. In this study, the abnormalities in the brain cells were not uniform, showing autism's wide range of symptoms and severity. This better understanding of prenatal development of the brain cells of people with autism underscores the importance of early identification and intervention.

Algorithm Uncovers Autism Syndromes' Fingerprints

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
March 6, 2014
Abstract: 

Autism is defined based on a wide variety of behavioral symptoms, but it's precisely this variation — along with a complex genetic background — that makes it tricky to connect behavior to the underlying genes. A new algorithm may make this challenge a bit easier to solve. The algorithm, which employs a form of artificial intelligence that learns as it goes, analyzes behavioral data and has learned to recognize six genetic disorders associated with autism, according to research published in Molecular Autism. The researchers hope to use these behavioral signatures to hone their search for the genetic underpinnings of ‘idiopathic autism,’ for which there is no known cause.

Autism Risk Abates in Later-Born Children

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
March 7, 2014
Abstract: 

The risk of certain autism spectrum disorders is highest in firstborn children and declines in each additional sibling born to the same mother, reports a large Finnish study published in Paediatric and Perinatal Epidemiology. When the researchers looked at Asperger syndrome, pervasive developmental disorder–not otherwise specified (PDD-NOS) and childhood autism, in which symptoms appear before the age of 3, as a group, they found that a diagnosis is most common in firstborns. The latter two conditions are now considered part of the autism diagnosis. When they looked at each diagnosis separately, the researchers found that the firstborn effect holds for Asperger and PDD-NOS, while second-born children are at the highest risk for childhood autism.