A third of children with neurofibromatosis type 1 have ADHD

Design

systematic review and random-effects meta-analysis of prevalence studies to April 2026

Population

50 studies of children and adults with neurofibromatosis type 1, with genotype separated where possible

Primary outcome

prevalence of intellectual disability, autism, ADHD, seizures and emotional disorders

Effect

ADHD 33% (95% CI 26–40); autism 11% (7–14); intellectual disability 8% (6–11); seizures 11% (8–14)

Fifty studies were pooled to estimate how often neuropsychiatric and seizure disorders occur in neurofibromatosis type 1, a condition usually followed for its tumours and its skin.

Attention deficit hyperactivity disorder was present in 33% (95% CI 26 to 40, from 29 studies) — by some distance the commonest finding. Autism spectrum disorder was present in 11% (7 to 14), intellectual disability in 8% (6 to 11), seizures in 11% (8 to 14) and epilepsy in 9% (6 to 11). Depression affected 13% (3 to 23) and anxiety 12% (5 to 20). Where genotype could be separated, children with NF1 microdeletions fared considerably worse: intellectual disability 41% (29 to 52) and ADHD 45% (25 to 65), though each of those rests on only two studies.

These are prevalence estimates from heterogeneous cohorts, many of them drawn from specialist clinics, which tends to overstate severity. Even allowing for that, a one-in-three ADHD figure changes what a routine NF1 review should cover. The neurodevelopmental burden is the part of this condition most likely to determine how a child does at school, and it is the part least likely to come up in a clinic organised around measuring café-au-lait spots and checking for plexiform neurofibromas.

• Include a neurodevelopmental and school-progress question in every NF1 review
• Screen for ADHD specifically rather than waiting for the school to raise it
• Ask about mood and anxiety in older children and adolescents with NF1
• Where a microdeletion genotype is known, expect higher neurodevelopmental burden and plan assessment accordingly

Why it matters

The part of NF1 most likely to shape a child's schooling is the part a tumour-focused review does not ask about.

Don't overread it

Pooled prevalence from specialist cohorts tends to overstate how common these problems are in the whole NF1 population.

The statistics, in plain English

Pooled prevalence figures carry wide intervals here because the underlying cohorts differ in how they ascertained cases — 3% to 23% for depression is close to uninformative about any individual clinic. The microdeletion estimates rest on two studies each and should be read as a signal that this genotype is worse, not as a number. Specialist-clinic cohorts systematically overrepresent severe disease, so these are probably upper bounds for a general population.

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