Autism Research: March 13, 2015 Week in Review


Now, a blood test to identify autism in boys

Forever pushing boundaries in diagnosis and treatment, scientists have now identified certain genetic biomarkers that are detectable in the blood and could be easily used to diagnose autism via a convenient blood test. Researchers led by Eric Courchesne at the Autism Center of Excellence at University of California, San Diego School of Medicine, identified ASD genomic signatures via blood tests with accuracy far greater than any behavioral tests, questionnaires or genetic screens so far. They focused only on boys between 1-4 years with autism, as autism is 4 times more common in boys. In the future, this simple blood test that detected genetic biomarkers could herald a whole new pathway to early and easy diagnosis of autism. the study was published this week in JAMA Psychiatry.

Journal Reference: Tiziano Pramparo, Karen Pierce, Michael V. Lombardo, et al. Prediction of Autism by Translation and Immune/Inflammation Coexpressed Genes in Toddlers From Pediatric Community Practices. JAMA Psychiatry, 2015; DOI: 10.1001/jamapsychiatry.2014.3008

Regulatory multifunctional protein linked to autism discovered

Neuroscientists from the Winship Cancer Institute of Emory University have discovered a multifunctional protein with role in limiting brain tumor growth and think it could be associated with autism spectrum disorders. The protein called BAI1 is vital for memory as well as spatial learning is thought to be a part of regulatory network in the brain. The findings of the study were published this week in the Journal of Clinical Investigation. Lead author Erwin Meir and colleagues discovered that the missing protein could arrest growth of new capillaries, thereby limiting cancer growth. Neurons lacking in the protein are deficient in a scaffolding protein called PSD-95 which has multiple associations with autism spectrum disorders. Scientists are hopeful of finding a link between the protein and autism to help persons with ASD.

Journal Reference: Dan Zhu, Chenchen Li, Andrew M. Swanson, Rosa M. Villalba, et al. BAI1 regulates spatial learning and synaptic plasticity in the hippocampus. Journal of Clinical Investigation, 2015; DOI: 10.1172/JCI74603

Autism traits linked to exposure to fire retardant phthalates

Intra-natal exposure to common fire arresting chemicals, phthalate chemicals, found in any average home, have been found to play a role in autism, a new study has revealed. Findings of the study were presented by the lead author Stephanie Degroote at the 97th annual meeting of the Endocrine Society held at San Diego this week. The authors stressed on the need to identify and remove such preventable causes of autism from our everyday environments. These chemicals can retard mental and motor development in children and may lead to attention deficit. The exposed rat models showed autistic traits like reduced social interaction, hyperactivity and affected more males compared to females, all just like autism.

Reference: Endocrine Society. “Autistic features linked to prenatal exposure to commonly found fire retardants, phthalates.” ScienceDaily. ScienceDaily, 5 March 2015. <>.

Multimodal neuroimaging improves autism detection

With advancements in technology, doctors and scientists are relying more and more on imaging to help diagnose difficult-to-diagnose conditions like autism. in a new study conducted at the University of Alabama, Birmingham, a team of scientists led by researcher Lauren Libero combined knowledge from anatomy, neurochemistry and inter-neuron connectivity to detect ASD in subjects. The study was published this week in the journal Cortex and aims to help detect autism as early as at 6 months age. The study suggests how autism might actually be the result of deficits in multiple areas of the brain, and not just one area, as currently thought. Also, the study suggests how various permutations of alterations led to differences in symptom severity and how MRI along with their multi-pronged approach helped detect autism better than single neuroimaging methods.

Journal Reference: Lauren E. Libero, Thomas P. Deramus, Adrienne C. Lahti, et al. Multimodal neuroimaging based classification of autism spectrum disorder using anatomical, neurochemical, and white matter correlates. Cortex, 2015; DOI: 10.1016/j.cortex.2015.02.008

Autism linked to higher intelligence, new study suggests

A new study from the prestigious University of Edinburgh has suggested that there might be a genetic link between autism and higher intelligence. The study was led by Dr. Toni kim Clarke and published this week in Molecular Psychiatry. The researchers found that almost 70% of those with autism despite degrees of intellectual disability had better non-verbal intelligence than their typical peers. They also found that on an average, people with autism genetic traits scored better in cognitive tests compared to typical peers. The study gives a new view to what has so far been considered a disability; maybe it is a step in human evolution.

Journal Reference: T-K Clarke, M K Lupton, A M Fernandez-Pujals, et al. Common polygenic risk for autism spectrum disorder (ASD) is associated with cognitive ability in the general population. Molecular Psychiatry, 2015; DOI: 10.1038/mp.2015.12