Neurofibromatosis Type 1 Big Data
Research type
Research Study
Full title
Using Big Data to Comprehensively Delineate the Neurobehavioral Phenotype of Children with Neurofibromatosis Type 1
IRAS ID
300472
Contact name
Shruti Garg
Contact email
Sponsor organisation
University of Mancheste
Duration of Study in the UK
2 years, 0 months, 0 days
Research summary
Neurofibromatosis Type 1 (NF1) is a rare disease affecting approximately 1:3500 people worldwide and is characterized by a range of tumor and non-tumor presentations, primarily neurobehavioral functioning impairments. People with NF1 exhibit greater cognitive impairments, learning disabilities, behavioral problems and socioeconomic difficulties compared with neurotypical individuals. Research around the neurobehavioral outcomes of NF1 individuals is well demonstrated however the predominant focus has been on between-group differences with individuals without NF1 and as such there are crucial gaps within the knowledge base. Gaps include how neurobehavioral functioning changes over time/with age, how cognitive impairment relates to academic, behavioral and socioemotional functioning, and an examination of subgroup differences and norms. Further barriers to knowledge production include small sample sizes and a lack of resources for analysis.
This study proposes to address the critical knowledge gaps with the use of integrative data analysis; the combination of existing, anonymised, international, neuropsychological datasets of individuals with NF1 to create a ‘Big Data’ set (n ≅ 2183, aged 2-18) which benefits from increased statistical power and reproducibility. Statistical methods will examine 1) neurobehavioral trajectories of change across age, its predictors, and how functioning varies compared to the traditional growth curve 2) relationships between cognitive, academic and socioemotional functioning and 3) NF1 subpopulations with differing profiles and predictors via a person-centred approach to differences within-group. Datasets shared by clinicians across the world using routinely-collected data will be pooled to create the first consortium of NF1 data from 13 sites across the globe. The findings will guide future research, patient management and crucially, treatment. The vast range of predictors examined will help in targeting specific treatments and support rather than a blanket approach, plus will delineate precise areas for further investigation. Moreover, the findings will help to establish norms for individuals with NF1 and their families.
Lay summary of study results:Neurofibromatosis Type 1 (NF1) is a rare genetic condition that affects about 1 in every 3000 people worldwide. It is known for a wide range of symptoms, including problems with learning and behaviour. While previous research has helped to show how people with NF1 differ from those without the condition, important questions remain unanswered.
This study aimed to better understand how thinking, learning and behaviour change over time in young people with NF1, and how these areas are connected. It also explored whether there are different subgroups of people within the NF1 population, each with unique patterns of strengths and difficulties. To fill these knowledge gaps, we pooled together anonymised data from 13 clinical sites around the world. These sites had previously collected information as part of regular clinical assessments of children and adolescents with NF1, aged between 2 and 18 years. By combining these existing datasets into one large international database (over 2,100 participants), we were able to use powerful statistical tools to look for patterns that smaller studies cannot detect.
The aims of the study were to:
1. Track how thinking and behaviour change as children with NF1 grow older.
2. Study the relationships between cognitive abilities, school performance, behaviour, and emotional health.
3. Identify distinct subgroups of individuals within the NF1 community based on their neuropsychological profiles.Key Findings
Whilst we are still working with the datasets, our initial work has looked at the school performance of children with NF1. We have found the following:1. Children with NF1 generally performed below average in school subjects like reading, writing, and maths. These difficulties became more noticeable as children got older, especially between ages 8 and 15.
2. School performance varied depending on the subject, as well as family background and type of NF1. Boys tended to have more difficulty with maths in mid-childhood and with reading and writing in later years. Children who inherited NF1 and whose parents had lower levels of education struggled more across all subjects.
This study shows that learning problems in children with NF1 start early and may increase with age. The results also highlight that every child with NF1 is different, and their needs depend on many factors such as family background and the specific way NF1 affects them. We hope the results of our study will help guide clinicians and teachers in better supporting children with NF1.
REC name
East Midlands - Leicester Central Research Ethics Committee
REC reference
22/EM/0027
Date of REC Opinion
11 Feb 2022
REC opinion
Favourable Opinion