Objective: To assess the frequency and severity of specific cognitive deficits in children with neurofibromatosis type 1 (NF1) in a large unbiased cohort. Methods: Extensive cognitive assessments were performed in 81 children with NF1 ages 8 to 16 years and their performance was compared with that of 49 unaffected sibling controls. Results: Eighty-one percent of the children with NF1 had moderate to severe impairment in one or more areas of cognitive functioning. Although 51% of children with NF1 performed poorly on tasks of reading, spelling, and mathematics, specific learning disabilities (as defined by IQ–achievement discrepancies) were present in only 20% of the children. Sustained attention difficulties were present in 63% of children with NF1, with 38% of children with NF1 fulfilling the diagnostic criteria for attention deficit–hyperactivity disorder. The NF1 neuropsychological profile is characterized by deficits in perceptual skills (visuospatial and visuoperceptual), executive functioning (planning and abstract concept formation), and attention (sustained and switching). Interestingly, both verbal and visual memory was unaffected in NF1 children, and their memory skills were in general stronger than their level of general intellectual function. Although both expressive and receptive language skills were significantly impaired in NF1 children, they appeared to be relatively better preserved than visuospatial abilities once IQ is taken into account. Conclusion: 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.

Background: The aetiology of postconcussion syndrome (PCS) following mild traumatic brain injury (mTBI) remains controversial. Identifying acute PCS (within the first 14 days after injury) may optimise initial recovery and rehabilitation, identify those at risk and increase understanding of PCS. Objective: To examine predictors of acute outcome by investigating the relationship between preinjury psychiatric disorder, demographic factors, injury related characteristics, neuropsychological and psychological variables and acute PCS. Methods: Prospective study of consecutive trauma admissions to a level 1 trauma hospital. The final sample comprised 90 patients with mTBI and 85 non-brain injured trauma controls. Individuals were administered a PCS checklist, and neuropsychological and psychological measures. Multiple imputation of missing data in multivariable logistic regression and bivariate logistic regressions were used to predict acute PCS at a mean of 4.90 days after injury. Results: Diagnosis of acute PCS was not specific to mTBI (mTBI 43.3%; controls 43.5%). Pain was associated with acute PCS in mTBI. The strongest effect for acute PCS was a previous affective or anxiety disorder (OR 5.76, 95% CI 2.19 to 15.0). Females were 3.33 times more likely than males to have acute PCS (95% CI 1.20 to 9.21). The effect of acute post-traumatic stress and neuropsychological function on acute PCS was relatively small. Higher IQ was associated with acute PCS. Conclusions: There is a high rate of acute PCS in both mTBI and non-brain injured trauma patients. PCS was not found to be specific to mTBI. The use of the term PCS may be misleading as it incorrectly suggests that the basis of PCS is a brain injury.

An operational definition of post‐traumatic amnesia is presented and a standardized procedure for the measurement of post‐traumatic amnesia, which has been clinically tested in over 100 patients with...

To investigate whether postconcussion syndrome (PCS) represents long-term sequelae associated with mild traumatic brain injury (mTBI). Prospective consecutive admissions to a Level 1 trauma hospital were assessed a mean 4.9 days and again 106.2 days post-injury. The final sample comprised 62 mTBI and 58 nonbrain injured trauma controls (TC). Change or lack of change in individual PCS-like symptoms and PCS was examined. Multilevel logistic regression was used to analyze whether mTBI predicts 3-month PCS (Time 2; T2); whether predictors of PCS (within 14 days of injury, Time 1; T1) predict 3-month PCS, and how change in these predictors from T1 to T2 were associated with change in PCS status. Variables included demographic, injury-related, financial incentives, neuropsychological, and psychiatric disorder. MTBI did not predict PCS. PCS was comparable (T1: mTBI: 40.3%, TC: 50.0%; T2: mTBI: 46.8%, TC: 48.3%). At T2, 38.6% were new cases of PCS; between 30.8% and 86.2% reported either a new or more frequent symptom. A pre-injury depressive or anxiety disorder (OR = 2.99, 95% CI [1.38, 6.45]), and acute posttraumatic stress (OR = 1.05, 95% CI [1.00, 1.00]) were early markers of PCS, regardless of mTBI. An interaction between time and posttraumatic stress disorder (PTSD) suggested the relationship between the severity of PTSD symptoms and PCS strengthened over time (OR = 2.66, 95% CI [1.08, 6.55]). Pain was related to PCS. Females were more likely than males to have PCS. The data suggest the phenomenon of PCS in trauma patients does not show an association with mTBI.

The aim of this study was to examine functional attention and executive deficits present in everyday living in a large sample of children with neurofibromatosis type 1 (NF1). Data are presented from 199 children with NF1 and 55 unaffected sibling controls who were administered the Behavior Rating Inventory of Executive Function (BRIEF) and Conners' ADHD DSM-IV Scales (CADS). Convergent validity was examined by correlating scale scores from these functional measures with scores from traditional cognitive measures of attention and executive function. Results indicated global functional attention and executive deficits in children with NF1. Relationships between functional impairments and scores on cognitive measures were inconsistent; at best, the magnitude of these relationships was in the moderate range, yet there was also a lack of association between many cognitive tasks and the functional skills they purport to assess. Findings suggest that cognitive and functional measures may tap different constructs and that neuropsychological evaluations should be supplemented with functional assessment tools to provide a more accurate and sensitive encapsulation of a child's strengths and weaknesses to guide remediation programs.