Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study
Shruti Garg1, Annukka Lehtonen2, Susan M Huson2
1Institute of Brain, Behaviour and Mental Health, University of Manchester.
Insights
Children with neurofibromatosis type 1 (NF1) show high rates of autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD) symptoms. NF1 may be a significant genetic cause of autism symptoms, highlighting the need for targeted psychopathology assessment.
Area of Science:
- Neuroscience
- Genetics
- Child Psychiatry
Background:
- Neurofibromatosis type 1 (NF1) is a genetic disorder with variable clinical manifestations.
- Psychiatric comorbidities, including autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD), are frequently observed in children with NF1.
- Understanding the prevalence and nature of these comorbidities is crucial for effective management.
Purpose of the Study:
- To investigate the prevalence of psychopathology in a population-based sample of children with NF1.
- Specifically, to assess the frequency of autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD) symptomatology.
- To explore the co-occurrence of ASD and ADHD symptoms in this cohort.
Main Methods:
- A population-based sample of children aged 4-16 years diagnosed with NF1 was recruited from a UK regional genetic service.
- Parents and teachers completed standardized questionnaires: Social Responsiveness Scale (SRS) for ASD, Conners' Parent Rating Scale-Revised (CPRS-R) for ADHD, and Strengths and Difficulties Questionnaire (SDQ) for general psychiatric morbidity.
- Data from 109 children with parental response were analyzed.
Main Results:
- High rates of ASD symptoms were identified: 29.4% in the severe clinical range and 26.6% in the mild to moderate range.
- Significant ADHD symptomatology was present in 53.8% of children.
- Over 41% of children scored in the abnormal range on the SDQ total difficulties scale, with 25% meeting criteria for both clinical ASD and ADHD.
Conclusions:
- This study confirms a high prevalence of ASD symptoms in children with NF1.
- There is a substantial co-occurrence of ADHD symptoms alongside ASD symptoms in this population.
- NF1 represents a potentially significant single-gene cause for autism spectrum disorder symptoms, underscoring the importance of recognizing and addressing associated psychopathology.
Aim:
To investigate psychopathology in children with neurofibromatosis type 1 (NF1), particularly the prevalence of autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD) symptomatology, using a population-based sampling approach.
Method:
Standard questionnaire screen reports were analysed for ASD (Social Responsiveness Scale, SRS), ADHD (Conners' Parent Rating Scale- Revised, CPRS-R), and other psychiatric morbidity (Strengths and Difficulties Questionnaire, SDQ) from parents and teachers of children aged from 4 to 16 years (112 females, 95 males) on the UK North West Regional Genetic Service register for NF1.
Results:
Parental response rate was 52.7% (109/207 children; 59 females, 50 males, mean age 9 y 11 mo, SD 3 y 3 mo). The SRS showed that in 29.4% (32/109) of children, autism was in the severe, clinical range (T-score>75) and in 26.6% (29/109) in the mild to moderate range (T-score 60-75). CPRS-R scores showed that in 53.8% (57/106) of children autism was in the clinical ADHD range (ADHD index T-score>65). Based on their scores on the SDQ total difficulties scale, 41.5% (44/106) of children were in the abnormal range and 14.2% (15/106) were in the borderline range. Twenty-five per cent (26/104) of children met criteria for both clinical autism and ADHD.
Interpretation:
This representative population-based sample of children with NF1 indicates a high prevalence of ASD symptoms associated with NF1 as well as substantial co-occurrence with ADHD symptoms. The findings clarify the psychopathology of NF1 and show the disorder as a potentially important single-gene cause for autism symptoms.
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