DOI: 10.1097/PEP.0b013e3181f9dbc8

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PMID: 21068634

Issn Print: 0898-5669

Publication Date: 2010/01/01


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Motor Proficiency in Children With Neurofibromatosis Type 1

Barbara A. Johnson; Bruce A. MacWilliams; John C. Carey; David H. Viskochil; Jacques L. D'Astous; David A. Stevenson

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Excerpt

Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders presenting in childhood with an incidence of 1 per 3000. Examples of the clinical manifestations of NF1 include café-au-lait macules, tumors of peripheral nerves, optic pathway tumors, long-bone dysplasia, developmental delays, and learning disabilities. NF1 is associated with skeletal abnormalities such as short stature, scoliosis, and long-bone fracture with nonunion. Children with NF1 have abnormalities of bone and muscle as evidenced by decreased bone mineral density, decreased bone strength, and low muscle mass, all of which may predispose them to fractures and scoliosis.1,2 Adults with NF1 demonstrate decreased muscular force in hand grip strength.3
Children with NF1 have been reported to have specific learning disabilities, attention-deficit/hyperactivity disorder, delays in language, executive functioning, visual perceptual skills, and memory contributing to problems with academic achievement.4 They also have poorer performance in neuromotor functions than their siblings who are unaffected5–7 and they are at a 6-fold increased risk for receiving remedial teaching for learning, behavior, speech, or motor problems.8 Chapman et al6 examined 10 children with NF1, using a structured evaluation of behavioral observations, and found a consistent profile of motor disinhibition and awkward motor output.
The cognitive problems and the musculoskeletal impairments in children with NF1 may contribute to difficulty learning and executing motor skills. Whereas previous research investigations have described the cognitive, behavioral, and musculoskeletal impairments in children with NF1, there is a lack of research analyzing the motor proficiency of children with NF1 using reliable outcome measures designed to specifically evaluate the motor skills of children. The Bruininks-Osertsky Test of Motor Proficiency–second edition (BOT 2) has been found to be a reliable measure of motor proficiency and is one of the most frequently used assessments for evaluating and discriminating motor proficiency in children.9 The BOT 2 was found to be a reliable outcome measure for evaluating motor proficiency in children with intellectual disorders.10 The current study reports the motor proficiency outcomes in children with NF1 and documents the ability of the BOT 2 to characterize motor proficiency in NF1.

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