AI Article Synopsis

  • Neurofibromatosis type 1 (NF1) is a genetic disorder that often co-occurs with autism spectrum disorder (ASD), leading to ongoing debates about this connection since the 1980s.
  • A large study involving over 12,000 8-year-old children found that 22 had both ASD and diagnosed NF1, indicating a higher prevalence than typically seen in the general population.
  • Children with both ASD and NF1 are less likely to receive proper ASD diagnoses and struggle more with non-verbal communication compared to those with ASD alone, highlighting the need for targeted support in this group.

Article Abstract

Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous disorder associated with neurodevelopmental disorders including autism spectrum disorder (ASD). The frequency of ASD/NF1 co-occurrence has been subject to debate since the 1980s. This relationship was investigated in a large population-based sample of 8-year-old children identified with ASD (N = 12,271) by the Centers for Disease Control and Prevention's Autism and Developmental Disabilities Monitoring (ADDM) Network. Twenty-two (1-in-558) children with ASD had diagnosed NF1, exceeding NF1 general population estimates by four to five fold. Children with ASD/NF1 versus ASD without NF1 were significantly less likely to receive a community-based ASD diagnosis (p = 0.04) and understand non-verbal communication (p = 0.001). These findings underscore the importance of including social-communication ability among relevant developmental concerns in children with NF1.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494711PMC
http://dx.doi.org/10.1007/s10803-016-2877-3DOI Listing

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