Articles in 2017

Gilles de la Tourette syndrome (GTS) is a childhood-onset neurodevelopmental disorder that is characterized by several motor tics and at least one phonic tic. In this Primer, Robertson et al. describe the epidemiology, pathophysiology, diagnosis and management of GTS in detail.

Chronic lymphocytic leukaemia (CLL) is a B cell malignancy. This PrimeView focuses on the mechanisms underlying the development of CLL, including genetic alterations, B cell receptor signalling and interactions within the tumour microenvironment.

Research on the biology of chronic lymphocytic leukaemia (CLL) — a malignancy of CD5⁺ B cells — has profoundly enhanced the identification of patients who are at high risk of disease progression and the treatment of patients with drugs that target the distinctive features of CLL. This Primer highlights these advances, as well as the epidemiology, genetics and immunobiology of CLL.

Congenital hearing loss affects up to 3 per 1,000 children; it can severely impair speech and reading skills and emotional and cognitive development. This PrimeView highlights the importance of neonatal hearing screening programmes and early diagnosis in the management of this condition.

Viral infections during pregnancy and acquired genetic mutations account for the majority of cases of congenital hearing loss. Early detection of this chronic condition, through neonatal hearing screening programmes, greatly benefits the cognitive and social development of the child.