Abstract
The last systematic review of research on the behavior of children with neurofibromatosis type 1 (NF1) was in 2012. Since then, several important findings have been published. Therefore, the study aim was to synthesize recent relevant work related to this issue. We conducted a systematic review of the literature. Relevant articles were identified using the electronic databases PubMed, PsycINFO, and Scopus and a manual search of references lists. Thirty of 156 articles identified met the inclusion criteria. A quality evaluation of the articles was performed and the information was synthesized using a narrative approach. Compared with controls, children and adolescents with NF1 present significant alterations in language, reading, visuospatial skills, motor function, executive function, attention, behavior, emotion, and social skills. The prevalence of attention-deficit/hyperactivity disorder (ADHD) is important and can affect cognition and executive function variables. A high prevalence of autistic traits and autistic spectrum disorder were reported. The benefits of using statins to treat cognitive deficits are unclear. However, children with NF1 and ADHD seem to benefit from methylphenidate treatment. The presence of hyperintensities in brain magnetic resonance imaging data seem to be related to poor cognitive performance. Analysis of these lesions could help to predict cognitive alterations in children with NF1. There has been important progress to evaluate cognitive characteristics of children with NF1 and to determine the physiological mechanisms of the concomitant disorders. However, discrepancies in relation to intelligence, learning disabilities, attention deficits, and treatment remain. Further investigations on this topic are recommended.
Highlights
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with a prevalence of 1 in 2,000–3,000 live births [1, 2]
One of the findings described in magnetic resonance imaging (MRI) are circumscribed areas of hyperintensity in T2-weighted imaging (T2H)
Neurofibromatosis type 1 children show to some extent, lower performance than their typically developing peers on intelligence tests do, with 90% intelligence quotient (IQ) scores between low and average range
Summary
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with a prevalence of 1 in 2,000–3,000 live births [1, 2]. The most common complications of NF1 are cognitive and behavioral deficits. Up to 80% of children with NF1 experience cognitive and behavioral difficulties involving different domains. The intelligence quotient (IQ) scores of these patients are within the normal range or only slightly lower compared with unaffected sibling controls. Parents often report poor performance in reading, written work, spelling, organizational skills, and mathematics. Approximately 38% of affected children have attention-deficit/hyperactivity disorder (ADHD) and some studies have reported that 29% of children with NF1 have autism spectrum disorder (ASD) [5]. It is important to understand these kinds of problems to identify particular needs of patients and provide individualized management of rehabilitation and educational processes
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