Rare Diseases and Child and Adolescent Psychiatry: Clinical and Therapeutic Challenges

Child and adolescent psychiatric symptoms in rare diseases represent major clinical and therapeutic challenges.

A disease is said to be rare when it affects less than 1 in 2,000 people. Among these rare diseases, the majority are congenital or develop in childhood resulting in 50% of patients being children. Cognitive and psychiatric phenotypes are frequent, sometimes are isolated at the beginning of the disease and are often poorly described. These rare diseases include essentially rare genetic syndromes, neurometabolic and auto immune diseases an can manifest within the whole spectrum of psychiatric conditions but with a higher frequency in Intellectual disability, autism spectrum disorder and early-onset schizophrenia. Improvements in the identification and diagnosis of rare diseases with psychiatric phenotypes are required, especially as some of these diseases have effective treatments and, in some cases, a cure. The development of a functional diagnostic procedure will allow for better training for clinicians and an adapted therapeutic regime better suited to the patient.

The main objective of this Research Topic is to engage child psychiatrists and to improve their knowledge in this area. This Research Topic will be an opportunity to present rare diseases which most commonly have links to child psychiatry and to propose clinical and therapeutic algorithms. A second objective is to explain the major benefit of the functional diagnosis, which is by definition multidisciplinary, to best support these young patients, especially at key moments in their development (early development, school learning period, adolescence, and transition to adulthood. These major stages of development can be sources of difficulties. The transition from one stage to another can co-occur with therapeutic ruptures and exacerbation of behavioral impairments. A third objective is the use of treatments: (1) specific treatments for certain curable rare diseases, (2) psychotropic drugs (used with caution due to poor tolerance), (3) lines of research concerning psychotropic treatments and rare diseases. 

• Neurometabolic diseases

• Auto-immune diseases including auto-immune encephilitis

• Rare genetic syndrome : Prader Willi, X fragile, Angelman, Neurofibromatosis

• Early onset schizophrenia

• Catatonic syndrome

• Functional diagnosis in rare diseases

• Psychotropic prescription in rare diseases