Self-assessment for autism adults with repetitive behaviors developed
Numerous questionnaires and studies assess various traits of autism like social awkwardness, etc. Very few studies have worked on developing methods for self-assessing adults with autism. One such unique study published by the Cardiff University has created a first of its kind self-assessment questionnaire to help clinicians diagnose autism in adults. The findings of the study have been published this week in the prestigious journal Journal of Autism and Developmental Disorders.
The study was led by Professor Sue Leekam, Director of the Wales Autism Research Centre and Cardiff University’s Chair of Autism. She and her team aimed to measure the extent to which adults with autism manifested repetitive behaviors that are a common finding in children on the spectrum. Repetitive behaviors are one of the important characteristics that are looked out for while diagnosing autism. The team believes that their test will provide a reliable method to measure such behaviors indicating frequency or severity.
The method was tested by experts from La Trobe University at Melbourne and Cardiff University over 311 participants. Surprisingly, typical adults did show high tendencies for repetitive behaviors, but adults on the spectrum showed even higher scores on the same. The research was different from other studies so far in that it was the first to create a tool for individuals themselves to report their behaviors that can be used to sharpen clinical as well as research outcomes, giving a clearer picture of autism.
Journal Reference: Sarah L. Barrett, Mirko Uljarević, Susan R. Leekam. The Adult Repetitive Behaviours Questionnaire-2 (RBQ-2A): A Self-Report Measure of Restricted and Repetitive Behaviours. Journal of Autism and Developmental Disorders, 2015; DOI: 10.1007/s10803-015-2514-6
Missing gene surfaces to help build autism puzzle
A new study published this week in the journal Molecular Psychiatry has revealed yet another missing piece of the puzzle of autism that has been intriguing patients, parents, clinicians and psychologists world over for over 2 decades now. Researchers from the Laboratoire Neurobiologie des Interactions Cellulaires et Neurophysiopathologie (CNRS/Aix-Marseille Université) have identified a new gene that plays a key role in development of the human brain in early stages and dysfunction in which might lead to certain autistic traits.
The team of researchers from CNRS collaborated with clinicians from the Marseilles Public Hospitals and other scientists from the renowned Salk Institute, USA to study human olfactory cells as indicators of early stages of ontogenesis, to see if new genes participated in producing autism.
Collecting olfactory cells from nasal biopsies of adults, the team identified that the gene that codes for MOCOS (Molybdenum Cofactor Sulfurase) under expressed in stem cells in 9 out of 11 adults on the spectrum that were part of the study. MOCOS is hypothesized to play an active role in inflammation and immunity, as well as in free radical destruction. The study showed expression of MOCOS in brain as well intestine cells of mammals, while under expression lead to hypersensitivity to oxidative stress.
Summing up, the involvement of the enzyme, in inducing susceptibility to oxidative stress is key as oxidative stress has been found to be a repetitive factor in children on the spectrum.
Journal Reference: F Féron, B Gepner, E Nivet, M Erard-Garcia. Olfactory stem cells reveal MOCOS as a new player in autism spectrum disorders. Molecular Psychiatry, 2015; DOI: 10.1038/mp.2015.106