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Autism and attention-deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1
Hadley Morotti1, Sarah Mastel2,3,4, Kory Keller1
1Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA.
Insights
Children with neurofibromatosis type 1 (NF1) do not show increased autism symptoms or diagnoses compared to the general population. Attention-deficit/hyperactivity disorder (ADHD) symptoms, not autism, explained higher scores in some assessments.
Area of Science:
- Neuroscience
- Genetics
- Developmental Pediatrics
Background:
- Neurofibromatosis type 1 (NF1) is a genetic disorder with variable clinical manifestations.
- Previous studies suggest a potential link between NF1 and neurodevelopmental conditions, including autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD).
- The precise relationship and potential confounding factors require further investigation.
Purpose of the Study:
- To determine if autism symptoms and diagnoses are more prevalent in children with NF1 compared to typically developing children.
- To quantify the levels of these symptoms and diagnoses in the NF1 population.
- To assess whether co-occurring ADHD symptomatology contributes to any observed increase in autism symptoms.
Main Methods:
- Electronic medical records (EMR) were searched for NF1 diagnoses and co-occurring conditions.
- A subsample of 45 children with NF1 underwent assessments for autism symptomatology, adaptive behavior, and behavioral problems.
- Data were compared to 360 age- and sex-matched controls from the Simons Simplex Collection (SSC), including those with ASD (SSC-ASD) and typically developing controls (SSC-TD).
Main Results:
- EMR data revealed 8.8% of children with NF1 had ADHD and 2.1% had ASD diagnoses.
- In the subsample, autism symptom scores in children with NF1 were below the clinical threshold.
- While children with NF1 showed more behavioral and autism symptoms than typically developing controls, they had fewer than those with ASD; however, ADHD symptom levels were similar to the ASD group. Controlling for ADHD and other factors eliminated the difference in autism symptoms compared to controls.
Conclusions:
- The study does not support a direct association between NF1 and autism at either the symptom or disorder level.
- ADHD diagnoses are more common in children with NF1, but ASD diagnoses are not.
- Increased autism questionnaire scores in NF1 appear to be explained by co-occurring ADHD symptoms, with adaptive behavior showing normal socialization but reduced communication skills.
Aim:
To evaluate if autism symptoms and diagnoses are more common in children with neurofibromatosis type 1 (NF1) than in typically developing children, to which levels, and to determine if co-occurring attention-deficit/hyperactivity disorder (ADHD) symptomatology accounts for this increase.
Method:
We searched hospital electronic medical records (EMR) for International Classification of Diseases, 10th Revision NF1 and co-occurring diagnoses codes. We recruited a subsample of 45 children (mean age 9y 2mo; SD 2y 7mo; range 5-12y; 22 males, 23 females) and collected parental reports of autism symptomatology, adaptive behavior, and behavioral problems that were compared to those of 360 age- and sex-matched controls from the Simons Simplex Collection (SSC) with autism spectrum disorder (ASD; SSC-ASD) or typically developing (SSC-TD).
Results:
The EMR search identified 968 children with NF1; 8.8% had ADHD and 2.1% had ASD co-occurring diagnoses. In the subsample, the mean autism scale score for participants with NF1 was below cut-off for significant autism symptoms. Participants with NF1 had significantly more autism and behavioral symptoms than SSC-TD participants, and significantly less than SSC-ASD participants, with one exception: ADHD symptom levels were similar to those of SSC-ASD participants. In analyses that controlled for internalizing, ADHD, and communication scores, the difference in autism symptom levels between participants with NF1 and typically developing controls disappeared almost entirely.
Interpretation:
Our results do not support an association between NF1 and autism, both at the symptom and disorder levels.
What This Paper Adds:
Diagnoses of attention-deficit/hyperactivity disorder (ADHD) were more common in children with neurofibromatosis type 1 (NF1) than in the general child population. Diagnoses of autism spectrum disorder were no more common in children with NF1 than in the general child population. Increases in autism symptoms did not reach clinically significant thresholds. Co-occurring ADHD symptoms accounted for increased autism questionnaire scores. Adaptive behavior in participants with NF1 showed normal socialization but lower communication proficiency.
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