Aims Neurofibromatosis type 1(NF1) is a common genetic condition with multisystem involvement. Clinical presentation of this condition can be varied, requiring clinicians to be aware of associated comorbidities and complications. We relate our experience of children seen within a tertiary centre.
Methods We analysed 100 consecutive patients with an established diagnosis of NF1 seen in a tertiary NF1 clinic. Records of patients were reviewed to determine clinical presentation and associated range of comorbidities.
Results Of the 100 patients (M:F = 55:45; median age 11.6 years (range 9 months–21 years)), 57 had at least one neurodevelopmental concern ranging from Learning difficulties 32%, specific learning difficulties 2%, social communication difficulties including ASD in 12%, attention difficulties including ADHD 18%, significant behavioural difficulties 11%, coordination difficulties 8%, sleep problems 13%, anxiety and low self esteem 3%, epilepsy in 4%. Majority of these children were in mainstream schools, so appropriate support would need to be provided for.
7/100(7%) of patients developed intracranial tumours, 14% optic pathway gliomas, 8 had non–tumour cranial abnormality identified on imaging. 10 children required neurosurgical intervention. 30% of children developed scoliosis, 5/30 required surgical fixation. 4 children had pseudoarthrosis, including a late presentation at 10 years. 17% had refractory errors. 14% of children underwent investigations for poor growth, 2 required hormone replacement therapy. 6 patients underwent investigations for concerns relating to puberty (2 precocious puberty, 2 premature adrenarche, 2 delayed puberty). 3 patients were on treatment for hypertension (Renal artery stenosis 2, essential hypertension 1). Plexiform neurofibromas, which can cause pain and affect cosmetic appearance, were present in 27/100 patients (9 required surgery).
Conclusions Under recognition of associated neurocognitive deficits and neuropsychiatric conditions in children with a diagnosis on NF1, can have significant impact on their educational outcome. The varied spectrum of clinical presentation warrants a comprehensive assessment for this group of patients. Establishing networks between local services and specialist centres will assist in early identification and management of Neurofibromatosis1 related complications.
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