When kids struggle in school, one of the first steps toward getting them help is often labelling their difficulties with a formal diagnosis, like attention deficit and hyperactivity disorder (ADHD), autism, or dyslexia. But few children experience symptoms that fit neatly a single category – a complication that has hindered efforts to uncover the origin […]

Around 1% of the global population has intellectual disability (ID, also known as learning disability), meaning lifelong difficulties with cognitive functions. With recent advances in genomic technologies, it is possible to find a specific cause (genetic diagnosis) for the majority of people with severe ID.  But whether and how genetic diagnosis is relevant to each […]

In 2015, Kate Baker and colleagues published the first report of a child with severe, complex disabilities and a variant in a gene called Synaptotagmin 1 (SYT1).  SYT1 co-ordinates communication between brain cells by triggering the release of neurotransmitter-filled vesicles. Following this discovery, genomic testing laboratories around the world began to look for similar cases. […]

Depression is leading cause of disability worldwide. There are lots of different risk factors for depression; from biological ones such as genetics, to psychosocial ones such as childhood adversity. Depression is often first diagnosed in adolescence, so it is important to try and understand how the combined effects of risk factors interact with everyday emotional […]

When a patient suffering from brain damage struggles to speak or understand others speaking, she typically receives a diagnosis of primary progressive aphasia (PPA) or post-stroke aphasia (PSA). The label she is given depends on the cause of her brain damage: is it neurodegeneration or stroke? But while the underlying causes of PPA and PSA […]

Clinical syndromes caused by frontotemporal lobar degeneration (FTLD), including the behavioral variant frontotemporal dementia (bvFTD) and progressive supranuclear palsy (PSP), are pathologically distinct but share many behavioural, cognitive and physiological features. These shared features may in part occur from common deficits of major neurotransmitters like GABA. To further investigate the link between GABA deficits and […]

Degeneration in the frontal lobes of the brain can produce many different syndromes, which have highly variable and overlapping clinical features. While clinical diagnostic criteria for these conditions has been refined in the last decade, a transdiagnostic approach to frontal lobe degeneration—which looks at variations in cognitive and behavioural traits, rather than diagnostic labels—may prove […]

Early intervention is a powerful weapon in the fight against rising rates of mental illness. But in order to intervene before problems become serious, we must accurately predict which children will struggle later in adolescence and what symptoms they are likely to experience. Toward that end, this study followed nearly seven thousand participants from the […]