Clear masks for caregivers mean young children can keep learning from adults’ faces : The Conversation


With caregivers’ faces covered, infants and young children will miss out on all the visual cues they’d normally get during stages of rapid developmental growth.

Source: Clear masks for caregivers mean young children can keep learning from adults’ faces : The Conversation

Brain activity between seizures informs potential treatment for childhood absence epilepsy — ScienceDaily


New research shows that in a mouse model of childhood absence epilepsy, brain activity is perturbed between seizures. The researchers speculate that this could underlie cognitive problems of the disease, which can persist despite treatment of seizures. That’s according to research published today in The Journal of Physiology.

Absence seizures cause a short period of “blanking out” or staring into space, due to brief abnormal electrical activity in the brain. In this new study, even after the seizures in the mice were treated, the abnormality that was previously seen between seizures persisted. This may provide a potential explanation for why some children with absence epilepsy may have Absence seizures , despite successful treatment of their seizures.

EEG, a test that measures electrical activity in the brain, has thus far been primarily used to detect seizures, rather than identifying cognitive impairment. This study suggests that looking at EEG activity between seizures could help physicians diagnose and monitor cognitive and other attentional deficits in epilepsy.

Source: Brain activity between seizures informs potential treatment for childhood absence epilepsy — ScienceDaily

Link discovered between touch of individuals with autism and their social difficulties – Medical News Today


The sense of touch may play a more crucial role in autism spectrum disorder (ASD) than previously assumed.

Source: Link discovered between touch of individuals with autism and their social difficulties – Medical News Today

Autism: The value of an integrated approach to diagnosis


Original post from Medical News Today

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Researchers at Inserm (Inserm Unit 930 “Imaging and Brain”) attached to François-Rabelais University and Tours Regional University Hospital have combined three clinical, neurophysiological and genetic approaches in order to better understand the brain mechanisms that cause autism. When tested on two families, this strategy enabled the researchers to identify specific gene combinations in autistic patients that distinguished them from patients with intellectual disabilities.

This study, published in the journal Molecular Psychiatry, offers new prospects for the diagnosis and understanding of the physiological mechanisms of autism.

Autism is a condition characterised by great heterogeneity, both in terms of clinical manifestations and genetics. It is currently estimated that nearly 400 genes may be involved in this disorder. Diagnosis of this condition is all the more complex because it is often associated with other developmental disorders involving the same genes.

To improve diagnosis, the Inserm researchers used an original multimodal approach combining:

  • Clinical assessment
  • High-throughput genomic analysis to sequence all the genes
  • Analyses of the electrical activity of the brain in response to the perception of a change (electroencephalography – EEG)

Two families with members affected by autism and/or intellectual disability were given the benefit of this integrated approach. In these two families, all individuals affected by the condition carried a mutation in the NLGN4X gene, which manifested in the brain as problems in transmitting information by the neurons.

Using EEG, the researchers primarily observed an abnormal brain wave pattern, characteristic of patients with autism. The other family members, including those with intellectual disabilities, did not show this feature.

Thanks to this new approach, a second rare mutation was characterised and linked to atypical brain activity measured by EEG in autistic patients.

For Frédéric Laumonnier and Frédérique Bonnet-Brilhault, the main authors of this work, “This study helps us realise that there is no ‘gene for autism,’ but combinations of genes involved in neurodevelopment that affect the development of the neuronal networks targeted by this condition.”

Identifying these combinations is a key step in understanding the physiopathology, and ultimately in the development of targeted therapeutic drugs.

Autism is a pervasive developmental disorder that appears early in childhood and continues into adulthood. It presents as an altered ability to establish social interactions and communicate, and as behavioural problems. People with autism often seem imprisoned in a kind of inner world.

References

This work was supported by Fondation de France and the European Union (EU FP7 project Gencodys)

 

This work was supported by Fondation de France and the European Union (EU FP7 project Gencodys)

SOURCES

GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability

F Bonnet-Brilhault1,2,3,9, S Alirol1,2,9, R Blanc3,4, S Bazaud1,2, S Marouillat1,2, R-A Thépault1,2, CR Andres1,2,5, É Lemonnier6,7, C Barthélémy1,2,3, M Raynaud1,2,8, A Toutain1,2,8, M Gomot1,2 and F Laumonnier1,2,8

1INSERM, U930, Tours, France
2Université François-Rabelais, UMR « Imaging and Brain », Tours, France
3Centre Hospitalier Régional Universitaire, Centre Universitaire de pédopsychiatrie, Tours, France
4Université Paris Descartes, Sorbonne Paris Cité, Institut de Psychologie, Laboratoire de Psychopathologie et Processus de Santé (EA 4057), Paris, France
5Centre Hospitalier Régional Universitaire, Service de Biochimie et de Biologie moléculaire, Tours, France
6Centre Hospitalier Universitaire, Centre Expert Autisme, Limoges, France
7Universite de Bretagne occidentale, Laboratoire de neuroscience, Brest, France
8Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France

Molecular Psychiatry, 9 june 2015