AUTISM SPECTRUM DISORDERS

WHAT IS AUTISM SPECTRUM DISORDERS?

The American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders (DSM)-5 defined Autism Spectrum Disorders (ASD) as a disorder characterized by core features in two areas:

• Impaired social communication and interaction

• Restricted and repetitive sensory and motor behaviors

It is a highly heterogeneous condition that can range from very mild to severe. In some cases, affected individuals require lifelong support.

ARE THERE ANY CO-OCCURRING CONDITIONS?

ASD is a spectrum of disorders and in affected patients often co-occurring conditions are present. The most common ones are:

•Anxiety and depression (29%)

•Attention deficit hyperactivity disorder (ADHD) (28%)

•Irritability and aggression (25 %)

•Intellectual disability, IQ <70 (11-65%)

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Other features frequently observed are dysmorphic features, congenital anomalies, macro- or microcephaly and neurological disorders (seizures, ataxia, motor delay, etc).

NEUROWES PROJECT

NeuroWES started in 2015 and is an international multi-center project with the purpose of understanding the role of genetics in intellectual disabilities (ID), autism spectrum disorders (ASD) and other neurodevelopmental disorders (NDD).

Using whole exome sequencing (WES) data, we are able to reach the diagnosis of ASD-affected patients in about 40% of cases and new candidate genes in 8% of cases. 

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Finding new ASD-candidate genes is important for the increasing of knowledge and to allow further functional studies for gene characterization and treatments. 

WOULD YOU LIKE TO COLLABORATE ON NEUROWES PROJECT?

If you would like to collaborate with us on NeuroWES project, please contact us using the contact form. 

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If you are a physician and you want to consult and download useful documents to enrol patients in the projects, please click here.