The nature and frequency of cognitive deficits in children with neurofibromatosis type 1

Hyman, Shelley; Shores, E. Arthur; North, Klaus

doi:10.1212/01.wnl.0000179303.72345.ce

Cited by 541 publications

(744 citation statements)

References 40 publications

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“…However, the disorder is highly variable in terms of clinical presentation, with only a minority of children experiencing significant physical complications (Huson et al 1989). In contrast, cognitive dysfunction is wide ranging, affecting approximately 80 % of children with NF1 in one capacity or another (Hyman et al 2005;Hyman et al 2006).…”

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confidence: 99%

“…Beyond intellect, studies have found specific deficits in visual perception, most consistently on the Benton Judgment of Line Orientation (JLO) task (Rowbotham et al 2009;Hyman et al 2005;Schrimsher et al 2003;Benton et al 1983), along with more generalized difficulties in the areas of language development (Hyman et al 2005), executive functioning (Templer et al 2012;Roy et al 2010;North et al 2002), and attention (Templer et al 2012;North et al 2002). Understanding of these deficits has helped to guide intervention trials and clinical practice with the NF1 population, shaping assessment and intervention practices.…”

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confidence: 99%

“…ADHD is highly prevalent within the NF1 population, with 31 to 50 % of children meeting diagnostic criteria for ADHD (Payne et al 2011;Pride et al 2012;Hyman et al 2005;Rosser and Packer 2003). This translates to a 3-to 12-fold increase risk of ADHD in children with NF1 when compared to the 5 % prevalence in children in the general population (APA 2013).…”

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confidence: 99%

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The Relation Between ADHD and Cognitive Profiles of Children with NF1

Potvin

Hardy

Walsh

2015

J Pediatr Neuropsychol

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Despite well-accepted findings of a "downward shift" in intellectual functioning in children with neurofibromatosis type 1 (NF1), research has not examined the contribution of the individual indices in this lower performance on intelligence (IQ) measures. Although 30-50 % of children with NF1 meet criteria for a diagnosis of attention deficit/ hyperactivity disorder (ADHD), research has not established the relation between ADHD and intellectual profiles in these children. To clarify these issues, this study examined the Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV) profiles of children with NF1, with and without comorbid ADHD, using a comparison group of children with developmental ADHD. We found that rather than an overall lowering of IQ, children with NF1 demonstrated an uneven intellectual profile. While verbal abilities were generally preserved, nonverbal, working memory, and processing speed abilities were lower than the population norms. Children with NF1 and comorbid ADHD showed significantly lower performance on tests of working memory than children with NF1 without ADHD or children with developmental ADHD. These results suggest that global intellect is inadequate in describing the cognitive phenotype in children with NF1 and that in children with NF1 comorbid ADHD may manifest as additional cognitive burden with respect to working memory.

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confidence: 99%

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confidence: 99%

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The Relation Between ADHD and Cognitive Profiles of Children with NF1

Potvin

Hardy

Walsh

2015

J Pediatr Neuropsychol

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“…Additional physical symptoms include freckling of the groin and/or underarm, Lisch nodules of the iris, optic pathway gliomas, and bone lesions [62]. Approximately 80% of individuals with NF1 exhibit deficits in cognitive functioning [63]. Poor social skills, signs of attention deficit hyperactivity disorder (ADHD), and difficulties with executive function are also observed in affected individuals.…”

Section: Neurofibromatosis Typementioning

confidence: 99%

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

et al. 2015

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Autism spectrum disorder (ASD) is a group of highly genetic neurodevelopmental disorders characterized by language, social, cognitive, and behavioral abnormalities. ASD is a complex disorder with a heterogeneous etiology. The genetic architecture of autism is such that a variety of different rare mutations have been discovered, including rare monogenic conditions that involve autistic symptoms. Also, de novo copy number variants and single nucleotide variants contribute to disease susceptibility. Finally, autosomal recessive loci are contributing to our understanding of inherited factors. We will review the progress that the field has made in the discovery of these rare genetic variants in autism. We argue that mutation discovery of this sort offers an important opportunity to identify neurodevelopmental mechanisms in disease. The hope is that these mechanisms will show some degree of convergence that may be amenable to treatment intervention.

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“…Learning disabilities occur in at least 50% of children with NF1, making cognitive problems the most common complication to affect the quality of life in this group (Hyman et al, 2005). Attention‐deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and sleep disturbance are also highly prevalent (Hyman et al, 2006; Leschziner et al, 2013; Morris et al, 2016) and can persist throughout life (Constantino et al, 2015; Descheemaeker et al, 2013; Mautner et al, 2015; van Eeghen AM et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

Worries and needs of adults and parents of adults with neurofibromatosis type 1

Rietman

Helden²,

Both³

et al. 2018

American J of Med Genetics Pt A

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Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder associated with lifelong tumor growth propensity and neurocognitive impairments. Although follow‐up of adults with NF1 often focuses on tumor growth, follow‐up of cognitive or social problems and other NF1‐related comorbidity is often not a part of standardized care. In order to provide optimal care services for these patients, we explored the care needs of adults with NF1. A qualitative study was performed using semi‐structured group interviews, exploring worries and care needs in medical, psychological, and socioeconomic domains, also focusing on the transition from pediatric to adult care. Four focus groups were conducted, including young adult patients, patients over age 30, and parents of young adult patients. In total, 30 patients and 12 parents participated. Data were transcribed verbatim and analyzed by computerized thematic analysis. Themes were organized using the World Health Organization International classification of functioning, disability, and health (ICF). Results indicated many and diverse worries and care needs both during the transitional period and in adulthood in medical, mental health, and socioeconomic domains. Worries could be categorized into 13 themes. Parents reported high stress levels and difficulties with their parental role. Participants expressed the need for more information, access to NF1 experts, daily living support, care for mental health and socioeconomic participation, and closer communication between health‐care providers. In conclusion, worries and needs of patients and parents underline the importance of multidisciplinary follow‐up and continuity of care during and after the transitional period. Additionally, parental stress requires more attention from care providers.

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The nature and frequency of cognitive deficits in children with neurofibromatosis type 1

Abstract: There is an extremely high frequency of cognitive problems in children with neurofibromatosis type 1, making cognitive dysfunction the most common complication to affect quality of life in these children.

Cited by 541 publications

References 40 publications

The Relation Between ADHD and Cognitive Profiles of Children with NF1

The Relation Between ADHD and Cognitive Profiles of Children with NF1

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

Worries and needs of adults and parents of adults with neurofibromatosis type 1

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