New Strategies to Assess Neuropsychiatric Involvement and Improve the Outcome in Children and Adolescents with NF1 and TSC

Objectives: The prevalence of neuropsychiatric problems in neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC) is relevantly higher than in the general population. In TSC has been developed a TAND (tuberous sclerosis associated neuropsychiatric disorders) checklist to quickly assess those symptoms. Aim of the study is testing the overall usability of the TAND checklist in NF1 and comparing the cognitive/behavioral profile in NF1 and TSC in our clinical cohorts of patients.

Methods: A total of 84 patients, aged 4 to 20 years, were screened with the Italian version of the TAND checklist: 42 with TSC (23 female and 19 male, mean age, 11.36 /− 4.2 years) and 42 with NF1 (23 female and 19 male, mean age, 11.33 /− 4.2 years). We collected the clinical informations from disease specific follow-ups and neuropsychiatric comorbidities previously diagnosed according to DSM-V. Cognitive level was assessed through standardized scales.

Results: TAND-checklist NF1 cohort: 9,5% had ID (intellectual disability), 21.4% SLD (specific learning disorders), 16.7% ADHD (attention deficit hyperactivity disorder), and 11.9% anxious/mood disorder. No one had diagnosis of ASD (autistic spectrum disorder). The problems highly reported were: paying attention and concentrating (59.5%), impulsivity (52.4%), anxiety (50%), overactivity/hyperactivity (38.1%), temper tantrums (38.1%), academic difficulties (> 40%), deficits in attention (59.5%), and executive skills (38.1%). TAND-checklist TSC cohort: 35.7% had ID, 12% SLD, 14,3% ADHD, and 4.8% anxious/mood disorder. The 9.5% had formal diagnosis of ASD. The problems highly reported were: paying attention and concentrating (61.9%), impulsivity (54.8%), temper tantrums (54.8%), anxiety (45.2%), overactivity/hyperactivity (40.5%), aggressive outburst (40.5%), absent or delayed onset of language (40.5%), and repetitive behaviours (35.7%), academic difficulties (> 40%), deficits in attention (61.9%), and executive skills (50%). Neuropsychiatric features NF1 VS TSC: There was statistically significant higher reports in TSC than in NF1 for aggressive outburst and self-injury and ASD features.

Conclusion: TAND-checklist was acceptable and feasible to complete in a clinic setting and was able to detect the complexity of neuropsychiatric involvement in NF1. According to previous findings NF1 is mainly characterized by ADHD profile, anxiety problems, and SLD. Comparing the two conditions ASD features were strongly associated to TSC; in NF1, those features were reported in less than 15% of the patients. TAND-checklist is a useful and reliable screening tool, both in TSC and NF1.