Recently Published

Developmental Trajectories of Young Children with Neurofibromatosis Type 1: A Longitudinal Study from 21 to 40 Months of Age
The Children’s Hospital at Westmead (Sydney)

This study mapped out the developmental path of young children with NF1 in the first 4 years of life.  The children were tested at 21 months, 30 months and 40 months of age on things such as mental development, general intelligence, the number of single words their child produced, basic vocabulary, verbal fluency, temperament and behaviour.

They found that this group of young children with NF1 had similar temperament (nature) to those without NF1.  However, the children with NF1 were found to have lower cognitive function than unaffected children which can result in learning difficulties later on.  They found that earlier mental functions and productive vocabulary are good predictors of general intelligence and language performance in children and therefore, the researchers suggest that early testing and assessment can be helpful and should start from early childhood.

*Learning assessments for children with NF1 are available in Sydney through the Children’s Hospital at Westmead in the NF1 Learning Clinic and at The Royal Children’s Hospital in Melbourne through the NF1 clinic

The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults
Hilda A. Crawford et al. 2015

This research asked sixty adults with a range of disease severity and visibility about the ways that NF1 impacted on their life and health.  Results showed five major ways that NF1 impacts and they are; the cosmetic burden, learning difficulties, concern about passing NF1 onto their children, uncertainty about progression of the disorder and pain.  Interestingly, the mildly affected adults shared many of the same concerns as those more severely affected. 

This work helped to improve the understanding of the impact of NF1 on adults and adds to current recommendations for care.

Uptake of Health Monitoring and Disease Self-Management in Australian Adults with Neurofibromatosis Type 1: Strategies to Improve Care
Hilda A. Crawford et al. 2015

This study was done to find out how adults with NF1 in Australia have their health checked and if they can or how well they can manage their own health. 

Almost half of the adults said they had no regular health checks and four main reasons were given; they didn’t know where to go for care, they didn’t know they needed regular checks, they thought nothing could be done for NF1 so didn’t bother, and they felt healthy and didn’t think it necessary to have a check-up.

The study suggested that adults with NF1 didn’t know how their disorder should be managed and didn’t have the confidence to manage their own health and health care. 

The results are important for clinicians and those who work with adults with NF1 and their families.