Pediatrics:

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Abstract: Attention-deficit/hyperactivity disorder (ADHD) is one of the most common psychiatric disorders of childhood, and though highly heritable, there is a clear pattern of polygenic inheritance with many genes contributing to its expression. Yet, as described in this issue of the Journal, ADHD is also overrepresented in neurofibromatosis type 1 (NF1), an autosomal dominant disorder resulting from mutations in a single gene and affecting 1 in 3,000 people. Although NF1 is named after the characteristic neurofibromas, or benign nerve sheath tumors, and morbidity and mortality are mostly related to the potential development of malignant nerve sheath and other tumors of the nervous system, patients with NF1 also have general cognitive and behavioral difficulties. In the last 25 years, researchers have developed an improved understanding of the difficulties, noting that not all cognitive and behavioral domains are equally affected and there is overlap with other neurodevelopmental disorders. Specifically, prior meta-analyses have shown increased rates of autism spectrum disorder (ASD), with approximately 18% of patients with NF1 meeting diagnostic criteria for ASD. Several cohort studies have also previously shown increased rates of ADHD. Hou et al. have now used an elegant meta-analysis to demonstrate not only that children with NF1 have elevated rates of ADHD, but also that in children with NF1 inattentive symptoms appear to be more prominent than hyperactive/impulsive symptoms.

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