Neurological and Appearance-related symptoms in children with Neurofibromatosis type 1 (NF1):  The relationship between NF1 severity and cognitive and behavioural outcomes

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder associated with multiple cutaneous, physical and neurological symptoms. The aim of this study was to validate current NF1 severity scales using PCA, and relating the NF1 severity scale and components to cognitive and behavioural outcomes. Participants were 18 children diagnosed with NF1 aged 8 to 16 years. The PCA showed that NF1 symptoms could be divided into neurological and appearance symptoms. The presence of more neurological symptoms was associated with a lower score on the task Comprehension. More symptoms in the appearance were associated with less assertiveness. A higher total number of NF1 symptoms was negatively related to the scale meta-cognition of the BRIEF, indicating poorer executive functioning in daily life for children with more NF1 symptoms. Also, elevated autistic traits were observed using the SRS, and poorer emotion recognition as measured with the ANT. Together, these results might...Show moreNeurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder associated with multiple cutaneous, physical and neurological symptoms. The aim of this study was to validate current NF1 severity scales using PCA, and relating the NF1 severity scale and components to cognitive and behavioural outcomes. Participants were 18 children diagnosed with NF1 aged 8 to 16 years. The PCA showed that NF1 symptoms could be divided into neurological and appearance symptoms. The presence of more neurological symptoms was associated with a lower score on the task Comprehension. More symptoms in the appearance were associated with less assertiveness. A higher total number of NF1 symptoms was negatively related to the scale meta-cognition of the BRIEF, indicating poorer executive functioning in daily life for children with more NF1 symptoms. Also, elevated autistic traits were observed using the SRS, and poorer emotion recognition as measured with the ANT. Together, these results might indicate that children with NF1 share a neuropsychological profile commonly seen in children with ASD, which might be related to neurological symptoms.Show less

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Neurological and Appearance-related symptoms in children with Neurofibromatosis type 1 (NF1): The relationship between NF1 severity and cognitive and behavioural outcomes