Transdisciplinary Approach in Type I Neurofibromatosis - Review of Psychiatric Disorders

Neurofibromatosis type 1 (NF1) is an autosomal dominant a multisystem genetic disorder that primarily involves the skin and the nervous system. The incidence of the disease is 1:3000-4000 live-born children, equally in both sexes. The diagnosis of NF1 is determined individually with any two of the following clinical features: café-au-lait spots, intertriginous freckling, Lisch nodules, neurofibromas, optic glioma, distinctive bone lesions and first-degree family relative with NF1. NF1 is a disease most commonly diagnosed and treated by neuropediatricians.

Cognitive and behavioral disorders affect between 50-80% of all children with NF1. Children with NF1 show impairments in attention, visual perception, language, executive function, academic skills, and behavior. This requires a multidisciplinary approach to the treatment s as seen in the case we present. Furthermore, NF1 is often associated with psychiatric disorders, which are more frequent in this disease than in general population, according to some studies even up to 33% patients. Psychiatric disorders are more frequent in NF1 than in the general population, particularly in children. They include dysthymia, depressive mood, anxiety, and personality disorders. Bipolar mood disorders or schizophrenia are rather rare. The majority of studies have focused on physical health and neurocognitive function in NF1, whereas psychiatric disorders associated with this disease remain unclear and poorly documented.

We present a case of an eight-year-old boy with behavioural and learning disabilities referred for psychological and psychiatric evaluation as well as an overview of NF-related psychiatric illnesses described in the literature.