Abstract
Neurofibromatosis type 1 (NF1) is one of the most frequent multi-systemic autosomal dominant rare genetic disorder with an incidence as high as 1/2000 and prevalence of 1/3000 births. NF1 is caused by pathogenic variants of the NF1 gene located on chromosome 17q11.2 [ [1] Ottenhoff M.J. Rietman A.B. Mous S.E. Plasschaert E. Gawehns D. Brems H. Oostenbrink R. Van Minkelen R. Nellist M. Schorry E. Legius E. Moll H.A. Elgersma Y. Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1. Genet. Med. 2020; 22: 889-897https://doi.org/10.1038/s41436-020-0752-2 Abstract Full Text Full Text PDF PubMed Scopus (16) Google Scholar ]. Of the affected individuals, 50% have a sporadic disease which causes challenges for early diagnosis. Up to 80% of children aged 6–18 years with NF1 present with moderate to severe impairment in one or more areas of cognitive functioning, and they are among the most important NF1 manifestations during school age [ [2] Johansson E. Kallionpää Böckerman P. Peltonen J. Peltonen S. A rare disease and education: neurofibriomatosis type 1 decreases educational attainment. Clin. Genet. 2021; 99: 529-539 Crossref PubMed Scopus (6) Google Scholar , [3] Van der Vaart T. Plasschaert E. Rietman A.B. Renard M. Oostenbrink R. Vogels A. de Wit M.C.Y. Descheemaeker M. Vergouwe Y. Catsman-Berrevoets C.E. Legius E. Elgersma Y. Moll H.A. Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial. Lancet Neurol. 2013; 12: 1076-1083 Abstract Full Text Full Text PDF PubMed Scopus (90) Google Scholar ]. The average intelligence quotient (IQ) is 10–15 points lower in these children than in population or sibling control groups. Learning disabilities in reading, writing and mathematics have been reported in about 50% of children [ [2] Johansson E. Kallionpää Böckerman P. Peltonen J. Peltonen S. A rare disease and education: neurofibriomatosis type 1 decreases educational attainment. Clin. Genet. 2021; 99: 529-539 Crossref PubMed Scopus (6) Google Scholar ]. Furthermore, achievements may be undermined by attention-deficit–hyperactivity disorder (ADHD), difficulties in social functioning associated with autism spectrum disorder (ASD) and motor difficulties [ 2 Johansson E. Kallionpää Böckerman P. Peltonen J. Peltonen S. A rare disease and education: neurofibriomatosis type 1 decreases educational attainment. Clin. Genet. 2021; 99: 529-539 Crossref PubMed Scopus (6) Google Scholar , 3 Van der Vaart T. Plasschaert E. Rietman A.B. Renard M. Oostenbrink R. Vogels A. de Wit M.C.Y. Descheemaeker M. Vergouwe Y. Catsman-Berrevoets C.E. Legius E. Elgersma Y. Moll H.A. Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial. Lancet Neurol. 2013; 12: 1076-1083 Abstract Full Text Full Text PDF PubMed Scopus (90) Google Scholar , 4 Krab L.C. Aarsen F.K. de Goede-Bolder A. Catsman-Berrevoets C.E. Arts W.F.A. Moll H.A. Elgersma Y. Impact of neurofibromatosis type 1 on school performance. J. Child Neurol. 2008; 23: 1002-1010 Crossref PubMed Scopus (93) Google Scholar ]. Cognitive and behavioural deficits lead to lower academic achievement and loss of quality of life, persisting into adulthood [ [2] Johansson E. Kallionpää Böckerman P. Peltonen J. Peltonen S. A rare disease and education: neurofibriomatosis type 1 decreases educational attainment. Clin. Genet. 2021; 99: 529-539 Crossref PubMed Scopus (6) Google Scholar ]. 40% of children with NF1 need special education and only approximately 10% of children with NF1 do not have any problems with school performance and also do not need remedial teaching [ [4] Krab L.C. Aarsen F.K. de Goede-Bolder A. Catsman-Berrevoets C.E. Arts W.F.A. Moll H.A. Elgersma Y. Impact of neurofibromatosis type 1 on school performance. J. Child Neurol. 2008; 23: 1002-1010 Crossref PubMed Scopus (93) Google Scholar ].
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