Neurofibromatosis

About Neurofibromatosis (Type 1)

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is a neurogenetic disorder primarily affecting the nervous system. As an autosomal dominant disorder, the mutation causing neurofibromatosis type 1 needs to occur on only one copy of the NF1 gene in chromosome 17. In a family where one parent has the disorder, each child then has a 50% chance of inheriting neurofibromatosis type 1. Spontaneous mutation, however, also accounts for up to half of all neurofibromatosis type 1 cases.

Neurofibromatosis assessment sydney

The disorder can be physically characterised through the presentation of café-au-lait spots – darker, flat patches of skin which increase in size with age. Though these spots may also appear as harmless birthmarks, all individuals with neurofibromatosis type 1 have at least six of these spots throughout their body, with each spot at least 1.5cm in diameter. Affected individuals also have freckles on their bodies, particularly in the underarm and groin areas. Bump-like, non-cancerous tumours growing underneath the skin known as neurofibromas may also develop in adult patients. Lisch nodules, yellow-brownish spots on the surface of the iris, are also commonly observed in adult patients. A clinical diagnosis can usually be established based on the presence of these physical symptoms.

 

Most cases of neurofibromatosis type 1 are relatively mild and do not cause significant impairments other than cosmetically from physical symptoms. In a small percentage of cases, however, neurofibromatosis type 1 has more severe complications. Some individuals develop tumours within the nervous system, and under 5% of individuals will develop brain tumours. The main impact upon individuals is usually the cognitive impact, as described below.

 

Cognitive issues associated with neurofibromatosis (Type 1)

In children, neurofibromatosis type 1 is sometimes associated with learning difficulties, particularly through Attention Deficit Hyperactive Disorder (ADHD) and language-related deficits. Preliteracy impairments – weaker performance in phonological processing and phonological awareness – appear as early as 5 years of age. The disorder may also cause frequent headaches affecting concentration.

Neurofibromatosis type 1 has also been linked to higher prevalence rates of Autism Spectrum Disorder (ASD), which is characterised by social impairments and behavioural issues. It has been estimated that some type of cognitive issue during childhood occur in as many as 80% of neurofibromatosis type 1 cases.

 

Cognitive & brain-based treatment for NF1

Treatment can be done at several levels.

(1) Neurofeedback may be helpful in remediating the attention based issues (ADHD) associated with the disorder.

(2) Orthoptic vision training may be helpful in treating the high precedence of visual processing issues associated with NF1.

(3) Speech therapy may be helpful if language issues are present.