Relations between fine motor skill and parental report of attention in young children with neurofibromatosis type 1

AbstractNeurofibromatosis type 1 (NF1) is the most frequent disorder associated with multiple café-au-lait macules (CALM) which may either be present at birth or appear during the first year of life. Other NF1-associated features such as skin-fold freckling and Lisch nodules occur later during childhood whereas dermal neurofibromas are rare in young children and usually only arise during early adulthood. The NIH clinical diagnostic criteria for NF1, established in 1988, include the most common NF1-associated features. Since many of these features are age-dependent, arriving at a definitive diagnosis of NF1 by employing these criteria may not be possible in infancy if CALM are the only clinical feature evident. Indeed, approximately 46% of patients who are diagnosed with NF1 later in life do not meet the NIH diagnostic criteria by the age of 1 year. Further, the 1988 diagnostic criteria for NF1 are not specific enough to distinguish NF1 from other related disorders such as Legius syndrome. In this review, we outline the challenges faced in diagnosing NF1 in young children, and evaluate the utility of the recently revised (2021) diagnostic criteria for NF1, which include the presence of pathogenic variants in the NF1 gene and choroidal anomalies, for achieving an early and accurate diagnosis.

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Evaluation of phonological processing skills of young children with neurofibromatosis type 1

Developmental Medicine & Child Neurology ◽

10.1111/dmcn.13794 ◽

2018 ◽

Vol 60 (7) ◽

pp. 642-642 ◽

Cited By ~ 2

Author(s):

Heather L Thompson

Keyword(s):

Young Children ◽

Neurofibromatosis Type 1 ◽

Phonological Processing ◽

Neurofibromatosis Type

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Parental Reports of Health-Related Quality Of Life in Young Children with Neurofibromatosis Type 1: Influence of Condition Specific Determinants

The Journal of Pediatrics ◽

10.1016/j.jpeds.2007.03.005 ◽

2007 ◽

Vol 151 (2) ◽

pp. 182-186.e2 ◽

Cited By ~ 28

Author(s):

Rianne Oostenbrink ◽

Kimberly Spong ◽

Arja de Goede-Bolder ◽

Jeanne M. Landgraf ◽

Hein Raat ◽

...

Keyword(s):

Quality Of Life ◽

Young Children ◽

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Health Related Quality ◽

Related Quality ◽

Health Related ◽

Parental Reports

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Effects of methylphenidate on cognition and behaviour in children with neurofibromatosis type 1: a study protocol for a randomised placebo-controlled crossover trial

BMJ Open ◽

10.1136/bmjopen-2018-021800 ◽

2018 ◽

Vol 8 (8) ◽

pp. e021800 ◽

Cited By ~ 4

Author(s):

Natalie A Pride ◽

Belinda Barton ◽

Paul Hutchins ◽

David R Coghill ◽

Mayuresh S Korgaonkar ◽

...

Keyword(s):

Working Memory ◽

Neurofibromatosis Type 1 ◽

Performance Test ◽

Spatial Working Memory ◽

Memory Task ◽

Neurofibromatosis Type ◽

Fine Motor ◽

Mouse Strains ◽

Adhd Symptoms

IntroductionDopamine dysregulation has been identified as a key modulator of behavioural impairment in neurofibromatosis type 1 (NF1) and a potential therapeutic target. Preclinical research demonstrates reduced dopamine in the brains of genetically engineered NF1 mouse strains is associated with reduced spatial-learning and attentional dysfunction. Methylphenidate, a stimulant medication that increases dopaminergic and noradrenergic neurotransmission, rescued the behavioural and dopamine abnormalities. Although preliminary clinical trials have demonstrated that methylphenidate is effective in treating attention deficit hyperactivity disorder (ADHD) symptoms in children with NF1, its therapeutic effect on cognitive performance is unclear. The primary aim of this clinical trial is to assess the efficacy of methylphenidate for reducing attention deficits, spatial working memory impairments and ADHD symptoms in children with NF1.Methods and analysisA randomised, double-blind, placebo-controlled trial of methylphenidate with a two period crossover design. Thirty-six participants with NF1 aged 7–16 years will be randomised to one of two treatment sequences: 6 weeks of methylphenidate followed by 6 weeks of placebo or; 6 weeks of placebo followed by 6 weeks of methylphenidate. Neurocognitive and behavioural outcomes as well as neuroimaging measures will be completed at baseline and repeated at the end of each treatment condition (week 6, week 12). Primary outcome measures are omission errors on the Conners Continuous Performance Test-II (attention), between-search errors on the Spatial Working Memory task from the Cambridge Neuropsychological Test Automated Battery (spatial working memory) and the Inattentive and Hyperactivity/Impulsivity Symptom Scales on the Conners 3-Parent. Secondary outcomes will examine the effect of methylphenidate on executive functions, attention, visuospatial skills, behaviour, fine-motor skills, language, social skills and quality of life.Ethics and disseminationThis trial has hospital ethics approval and the results will be disseminated through peer-reviewed publications and international conferences.Trial registration numberACTRN12611000765921.

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