Neurofibromatosis Type 1 in a 9-Year-Old Boy With Learning Problems, Emotional Outbursts, and Facial Disfigurement

AbstractIn this study, we tested the hypothesis that action planning is impaired in children with neurofibromatosis type 1 (NF1). Thirty-six children with NF1 were pair-matched to 36 healthy controls (HC) on age (range, 7–12 years), sex, and parental education level, and both groups were administered three action-planning tasks. To examine the relation of task performance to attention deficit hyperactivity disorder (ADHD), the NF1 group was divided into subsets of children who met or did not meet criteria for ADHD. Children with NF1 performed less well than HC on all planning tasks, and differences remained when controlling for IQ or a measure of visuospatial skill. Both the NF1 with ADHD subset and NF1 without ADHD subset performed more poorly than HC on two of the tasks, whereas only the NF1 with ADHD subset performed worse than HC on the third planning task. The results underscore the importance of evaluating executive function in children with NF1 and suggest that deficits in this domain may be only partially related to ADHD. Planning deficits in children with NF1 may be part of their cognitive phenotype. Identifying these deficits is relevant in determining factors contributing to learning problems and in developing appropriate interventions. (JINS, 2010, 16, 1056–1063.)

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Attention and Motor Learning in Adult Patients with Neurofibromatosis Type 1

Journal of Attention Disorders ◽

10.1177/10870547211012035 ◽

2021 ◽

pp. 108705472110120

Author(s):

Jesminne Castricum ◽

Joke H. M. Tulen ◽

Walter Taal ◽

André B. Rietman ◽

Ype Elgersma

Keyword(s):

Motor Learning ◽

Neurofibromatosis Type 1 ◽

Genetic Disorder ◽

Clinical Importance ◽

Neurofibromatosis Type ◽

Learning Problems ◽

Control Group ◽

Intellectual Performance ◽

Neuropsychological Tasks

Objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that is associated with cognitive disabilities, including attention and motor learning problems. These disabilities have been extensively studied in children with NF1 but limited studies have been performed in adults. Method: Attention, motor learning and intellectual performance were studied with neuropsychological tasks in 32 adults with NF1 and 32 controls. Results: The NF1 and control group performed similarly on attention and motor learning tasks, although controls had shorter reaction times than adults with NF1 during the motor learning task ( t[60] = −2.20, p = .03). Measures of attention or motor learning were not significantly associated with reduced intellectual performance in NF1. Conclusion: In contrast to many studies in children with NF1, our findings did not provide evidence for presence of attention or motor learning problems in adults with NF1 in neuropsychological tasks. Our observations may be of clinical importance to determine treatment focus in adults with NF1.

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