News by Subject Medicine & Health

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, arises from mutations in the NKAP gene, which plays a key role in human development.

In an international collaboration led by scientists in Switzerland, three amputees merge with their bionic prosthetic legs as they climb over various obstacles without having to look. The amputees report using and feeling their bionic leg as part of their own body, thanks to sensory feedback from the prosthetic leg that is delivered to nerves in the leg's stump.

The bionic prosthesis is perceived, by the brain of three leg amputees, as a real limb, allowing them to avoid falls while walking over obstacles without seeing them, climb stairs much faster and to finely place the feet in the space. Volunteers felt sensations from multiple positions of the foot when touched and knee movements. The prosthetic leg speaks to the brain through a wireless link with the nerves in the upper leg of subjects.

'Our findings support the utility of cerebral perfusion as a biomarker for recovery after stroke,' said Dr. Boukrina, research scientist at the Center for Stroke Rehabilitation Research at Kessler Foundation, 'and indicate that early reperfusion of the left reading network is essential to reading performance. We also found that increased perfusion of the right reading network correlated with worse reading performance, which challenges the belief that this increased activity is a necessary transition in the recovery process.'

Communicating with others is one of the biggest difficulties for autistic children. Asking for help, initiating social interaction and sharing their emotions become skills that require learning through exercises and therapy. Interventions based on games that require the use of technology have proved to facilitate motivation and learning processes in children with Autism Spectrum Disorders (ASD).

Mount Sinai researchers have identified elemental signatures in baby teeth that are unique to attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, and cases when both neurodevelopment conditions are present, which suggests that the metabolic regulation of nutrients and toxins play a role in these diseases, according to a study published in Translational Psychiatry in September.

A new clinical trial conducted by Ohio State University found a cost-effective generic drug works just as well as a more expensive drug in preserving heart function in boys with Duchenne muscular dystrophy.

To best serve the clinical needs of individuals with MS, neuropsychological testing needs to be viewed in larger context comprising non-cognitive variables, such as motor ability and demographic values, fatigue and depression, and disease activity and level of disability, as well as person-specific factors such as personality and coping styles. 'It's important to note that other types of assessments used to evaluate individuals with MS need to be subjected to the same standards for validity as neuropsychological assessments,' said Dr. Weber.

Research from Lancaster University Management School (LUMS), published in Organization Studies shows disabled people face being marginalized by the very programs that are designed to help them. Projects and welfare systems established to provide support are normalizing disabled people, and unintentionally contributing to their further marginalization.