Developmental Delays in Children With Neurofibromatosis Type 1

Soucy, Elizabeth A.; Gao, Feng; Gutmann, David H.; Dunn, Courtney M.

doi:10.1177/0883073811423974

Cited by 30 publications

(37 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This condition should be suspected in children with hypotonia and multiple (greater than 6) café au lait spots. 27 Children with known or suspected genetic disorders may benefit from genetic consultation and genetic counseling for the family.…”

Section: Neuromotor Examinationmentioning

confidence: 99%

Motor Delays: Early Identification and Evaluation

Noritz¹,

Murphy²,

Panel³

2013

Pediatrics

114

View full text Add to dashboard Cite

Pediatricians often encounter children with delays of motor development in their clinical practices. Earlier identification of motor delays allows for timely referral for developmental interventions as well as diagnostic evaluations and treatment planning. A multidisciplinary expert panel developed an algorithm for the surveillance and screening of children for motor delays within the medical home, offering guidance for the initial workup and referral of the child with possible delays in motor development. Highlights of this clinical report include suggestions for formal developmental screening at the 9-, 18-, 30-, and 48-month well-child visits; approaches to the neurologic examination, with emphasis on the assessment of muscle tone; and initial diagnostic approaches for medical home providers. Use of diagnostic tests to evaluate children with motor delays are described, including brain MRI for children with high muscle tone, and measuring serum creatine kinase concentration of those with decreased muscle tone. The importance of pursuing diagnostic tests while concurrently referring patients to early intervention programs is emphasized.

show abstract

Section: Neuromotor Examinationmentioning

confidence: 99%

Motor Delays: Early Identification and Evaluation

Noritz¹,

Murphy²,

Panel³

2013

Pediatrics

114

View full text Add to dashboard Cite

show abstract

“…5 There is an emerging body of evidence demonstrating motor impairment as a common feature of NF1 in childhood. 4,6,7 Early research in this area documented problems with manual dexterity, balance, and ball skills, with 32% of children exhibiting severe impairment of coordination skills. 8 More recently, Johnson et al compared children with NF1 with normative data on the Bruininks Oseretsky Test of Motor Proficiency, 2nd Edition (BOT-2).…”

Section: Discussionmentioning

confidence: 99%

“…4 Associations have also been reported between fine motor, maths/premaths skills, and focal areas of hyperintensity on T2-weighted cerebral images. 7 Reduced motor competency may contribute to a range of poor outcomes for children with NF1. Gross motor skill impairments, for example, have been shown to predict a range of social, emotional, behavioural, and academic problems in children with developmental coordination disorder, all of which are common features of the NF1 phenotype.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Relationship between cognitive dysfunction, gait, and motor impairment in children and adolescents with neurofibromatosis type 1

Champion

Rose

Payne

et al. 2014

Develop Med Child Neuro

View full text Add to dashboard Cite

AIM Motor skill impairment and cognitive dysfunction are commonly reported features of neurofibromatosis type 1 (NF1). We characterized and determined the relationship between motor impairment, gait variables, and cognitive function in children and adolescents with NF1.METHOD Motor function, gait, and neurocognitive abilities were assessed in 46 children and adolescents with NF1 (26 males, 20 females; age range 7-17y; mean age 11y 1mo, SD 3y 2mo). Tests to establish correlations between neurocognitive, motor, and gait variables were performed.RESULTS Compared with normative data, 28/39 of our NF1 cohort demonstrated impaired performance for balance and upper limb coordination and 16/38 for running speed and agility. Gait data revealed a strategy to preserve balance at the expense of velocity, with the unexpected exception of a tendency for reduced base of support. Neurocognitive testing confirmed mean IQ in the low average range (86.0) and deficits in spatial working memory and strategy generation. Significant correlations between a number of neurocognitive measures and motor abilities and gait were identified. The largest associations were between gait width and spatial working memory (r=0.594) and running speed and agility with strategy generation (r=0.549). INTERPRETATIONWe have identified a relationship between balance, running speed and agility, gait, and cognition in children with NF1. Findings suggest a shared abnormal neurodevelopmental process underlying some cognitive and motor abilities in NF1. Results are discussed within the context of evidence highlighting abnormal dopamine-mediated corticostriatal circuitry in NF1.Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with a birth incidence of 1 in 2700 individuals.1 Caused by a mutation in the gene encoding neurofibromin on chromosome 17q11.2, NF1 is characterized by a diverse range of cutaneous, neurological, and neoplastic manifestations, including caf e-au-lait macules, skinfold freckling, neurofibromas, and optic pathway tumours. 2Skeletal anomalies have also been documented, including scoliosis, tibial dysplasia/pseudoarthrosis, and sphenoid wing dysplasia. Neurocognitive impairment is also well documented in children with NF1. 3,4 Although intelligence tends to be only mildly affected, specific impairments on measures of attention, executive function, language, and visual perception are common. Given the frequency and severity of cognitive deficits, it is not surprising that up to 70% of children with NF1 underachieve at school, with formal learning disability estimated to be present in approximately 50% of children. 5There is an emerging body of evidence demonstrating motor impairment as a common feature of NF1 in childhood. 4,6,7 Early research in this area documented problems with manual dexterity, balance, and ball skills, with 32% of children exhibiting severe impairment of coordination skills. Reduced motor competency may contribute to a range of poor outcomes for children with NF1. Gross motor skill impairments, fo...

show abstract

“…Ras-MAPK pathway dysregulation is also implicated in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), of which augmented prevalence rates occur in NF1 populations (Garg et al, 2013;Walsh et al, 2013). Co-occurring gross and/or fine motor problems are common in NF1 (Soucy, Gao, Gutmann, & Dunn, 2012) as well as in ADHD (McLeod, Langevin, Goodyear, & Dewey, 2014) and ASD (Gustafsson et al, 2014). Fine motor problems in children with NF1, such as writing difficulties may lead to significant difficulties in daily life functioning and academic achievement (Krab et al, 2011) and are found to significantly coincide with impaired visual-motor performance as measured with the copy subtest of the Beery Buktenica developmental test of visual motor integration (Beery VMI) (Gilboa, Josman, Fattal-Valevski, Toledano-Alhadef, & Rosenblum, 2010;Krab et al, 2011).…”

Section: Introductionmentioning

confidence: 99%