Researchers from the VIB Flanders Interuniversity Institute of Biotechnology fell upon an unexpected biological pathway involving the protein APP which plays a vital role in development of one of the commonest causes for autism i.e. the Fragile X syndrome. Scientists led by Dr. Emanuela Pasciuto published findings of their study this week in the journal Neuron. The team identified the molecular mechanisms behind the elevated levels and maturation of APP protein in a mouse model. This dysregulation affects brain development and behavior, at a stage where the infant’s neuronal connections i.e. synapses are being formed and remodeled. Using a newly developed agent the team was able to reduce the cellular dysfunction and behavioral alterations paving way for potential new therapies for autism in the future.
Journal Reference: Emanuela Pasciuto, Tariq Ahmed, Bart De Strooper, Claudia Bagni. Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome. Neuron, 2015; 87 (2): 382 DOI: 10.1016/j.neuron.2015.06.032
Synapsin protein mutations link autism and epilepsy
New research from the University of Bristol is showing how mutations in the brain in a protein called Synapsin are responsible for disorders like epilepsy, autism, as well as other disorders. Published this week in the prestigious journal Nature Communication, researchers shared findings of the study led by Jeremy Henley where they discovered how mutation in a vital protein Synapsin 1a, that plays a vital role in a process called SUMOlyation, interferes with the ability of the brain to form neural connections. They summated from prior researches associating synapsin 1a with autism and epilepsy that it was probably the mutation in the protein that led to autism. This could translate into targeted therapies with deeper research in the future.
Journal Reference: Leo T. -H. Tang, Tim J. Craig, Jeremy M. Henley. SUMOylation of synapsin Ia maintains synaptic vesicle availability and is reduced in an autism mutation. Nature Communications, 2015; 6: 7728 DOI: 10.1038/ncomms8728
Dads parenting children on the spectrum aids mom’s health
A new study published by the University of Illinois at Urbana has identified that fathers who read to kids, and cared for the children on the autism spectrum at 9 month age reduced the mother’s level of stress and depression as the kids reached age 4. The study was published this week in the journal Maternal and Child Health Journal by lead author Daniel Laxman and his team. Fathers involved in active, responsive caretaking of children like taking the child to the doctor or soothing the child, reduced the depressive symptoms seen in the moms. The study was conducted on 3550 children.
Journal Reference: Daniel J. Laxman, Brent A. McBride, Sarah L. Curtiss, Jenna M. Weglarz-Ward. Father Involvement and Maternal Depressive Symptoms in Families of Children with Disabilities or Delays. Maternal and Child Health Journal, 2014; 19 (5): 1078 DOI: 10.1007/s10995-014-1608-7
Low intensity therapies equivalent to high intensity ones for high functioning autism children
A new study from the Canisius College lead by author Christopher Lopata, even the low intensity summer treatment plans (summerMAX) showed improvement in children with high functioning autism as compared to the high intensity programs originally delivered. Published this week in the journal Research in Autism Spectrum Disorders, the study provides strong evidence in support of the fact that efficacy as well as feasibility are achievable from the low intensity version of the summerMAX program. About 47 children ranging from 7 to 12 years of age were involved in the study and randomly assigned to either the high intensity or the low intensity program.
Journal Reference: Christopher Lopata, Marcus L. Thomeer, Martin A. Volker. RCT examining the effect of treatment intensity for a psychosocial treatment for high-functioning children with ASD. Research in Autism Spectrum Disorders, 2015; 17: 52 DOI: 10.1016/j.rasd.2015.06.002