Faculty Bibliography

Parents of children with tuberous sclerosis complex who underwent multistage resections for treatment of refractory seizures were offered a telephone questionnaire regarding quality of life (QOL) of child and family since surgery. Of 53 families, 39 responded. Age at epilepsy onset was birth to 3months. Average duration of epilepsy before the first surgery was 5.1years, and average age at surgery was 5.8. The average follow-up was 3.9. Seventy-seven percent had a >90% reduction in disabling seizures. In all outcome categories, 46-85% had at least a moderate improvement in QOL. There was a significant correlation between QOL variables and Engel outcome class. Despite the potential burden posed by the aggressive surgical approach, including multiple surgeries and long hospitalization periods, 94% of parents would choose the same course once again. We conclude that aggressive surgical treatment of tuberous sclerosis complex-related refractory seizures is associated with significant control of epilepsy as well as improved QOL for the patient and family

The authors characterized the cognitive, adaptive, and behavioral sequelae of Coffin-Siris (CS) syndrome and epilepsy in a 7.5-year-old child. Little is known about the early neurobehavioral presentation of CS. Clinical features consistent with this genetic anomaly include underdeveloped tips and nails of the fifth fingers, extended infranasal depression, and craniofacial abnormalities. MRI findings often reveal callosal agenesis. The authors conducted a neuropsychological evaluation and obtained parental ratings of behavioral and adaptive functioning. Attentional abilities were limited. As assessed by the Mullen Scales of Early Learning, receptive language abilities (age equivalent [AE]: 3-3) were relatively stronger than expressive skills (AE: 1-4). Adaptive functioning was low across all domains (Vineland Adaptive Behavior Composite AE: 1-9). On the Behavior Assessment for Children (BASC-2), social skills dysfunction, stereotyped and self-stimulatory behaviors, restricted interests, ritualistic play, and inappropriate object usage were noted. No significant mood disturbances were endorsed. Study findings indicate a diffuse pattern of neurobehavioral deficits in a child with CS and epilepsy. Further clinical assessment and research should include multidimensional assessment techniques, including evaluation of adaptive behavior, in an effort to capture the full range developmental sequelae in children with CS

Rationale: It is well known that epilepsy has a negative impact on a child's intellectual development. Cormack and colleagues (2007) reported that intractable epilepsy can result in at least a 1-2 standard deviation difference in mean intelligence compared to healthy children. Although determining strengths and weaknesses in relation to healthy peers is important, it is also valuable for clinicians to be able to determine whether a child's cognitive abilities are similar to, above, or below the level expected for patients with refractory epilepsy. The purpose of this study is to present clinical normative data for WISC-IV performance in American and Canadian patients with refractory epilepsy. Methods: Participants included consecutively referred children and adolescents between the ages of 6-16 years with medically-determined refractory epilepsy from the New York Comprehensive Epilepsy Centre (American sample, n=50) and the Calgary Epilepsy Programme in Calgary, Canada (Canadian sample, n=76). All participants were administered the Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV; Wechsler, 2003) as part of their clinical work-up. Results: American participants had a mean age of epilepsy onset of 4.9 years (SD=4.3; range=0-14.3 years), mean duration of epilepsy of 6.0 years (SD=4.0; range=0.1-15.4 years), and a mean number of previous antiepileptic medications of 2.1 (SD=2.1; range=0-10). The mean age at assessment for the American sample was 10.9 years (SD=3.3; range=6.5-16.3 years). Canadian participants had a mean age of epilepsy onset of 5.2 years (SD=4.1; range=0-16 years), mean duration of epilepsy of 5.9 years (SD=4.0; range=0.2-14.2 years), and a mean number of previous antiepileptic medications of 2.1 (SD=2.5; range=0- 9). The mean age at assessment for the Canadian participants was 11.2 years (SD=2.8; range=6.2-16.4 years). Overall, there are no appreciable differences between the American and Canadian samples for the variables used to determine the severity of epilepsy. American participants had a mean WISC-IV full scale IQ score of 82.8 (SD=24.1; range=41-132). Nearly one-third of the sample had full scale IQ scores that were below the 2nd percentile (i.e., full scale IQ<70). Clinical norms for full scale IQ in the American sample suggest that it is 'average' for children with epilepsy to have full scale IQ scores between 63 and 101. Canadian participants had a mean WISC-IVCDN full scale IQ of 75.0 (SD=18.7; range=40-109). Having a full scale IQ score below the 2nd percentile was found in 38% of the Canadian sample. Clinical norms for full scale IQ in the Calgary sample suggest that it is 'average' for children with epilepsy to have full scale IQ scores between 59 and 92. Conclusions: Epilepsy can have a deleterious effect on intellectual growth and development. However, there is considerable value in knowing whether the impact on intelligence in any given patient is consistent with the known effects of epilepsy on intelligence. The information presented in this study will be useful for any clinician who evaluates a child or adolescent with severe epilepsy

Tuberous sclerosis complex (TSC) is often associated with epilepsy, mental retardation, and autism spectrum disorders (ASDs). Thus, screening for ASDs is important when evaluating these individuals. We examined the utility of the Social Responsiveness Scale (SRS) and Social Communication Questionnaire (SCQ), two measures for screening for ASDs, in a TSC population. Twenty-one children were evaluated, with 52.4% classified as having ASDs on the SRS and 42.9% classified as such on the SCQ. Number of antiepileptic drugs significantly correlated with SRS Total score, as did level of intellectual functioning. Evidence for convergent validity was obtained between the SRS and SCQ Total scores (r=0.605). Moreover, all SRS subscales correlated with SCQ Total score (r>0.400). All SCQ subscales except for Communication correlated with SRS total. Overall, the results demonstrate that these questionnaires appear to be effective screens for ASDs in a TSC population and are measuring similar constructs

Little is known about psychiatric aspects of pediatric demyelinating conditions. A total of 23 youths (6-17 years) with demyelinating conditions underwent semistructured psychiatric interviews using the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version. Adolescents and parents completed the Child Symptom Inventory-4 and the Youth's Inventory-4. Fears and conceptions of their neurological problems were elicited. In all, 48% (n = 11) met criteria for current psychiatric diagnoses, including 27% (n = 3) with depressive disorders and 64% (n = 7) with anxiety disorders. Fears and conceptions of the illness were severe and diverse. Depressive and anxiety disorders are common in pediatric demyelinating disease. Clinicians should therefore screen for psychiatric comorbidity symptoms as part of the routine evaluation of such patients

Fatigue and quality of life are significant concerns in adult multiple sclerosis (MS) but little is known about these factors in pediatric MS. The present investigation evaluates fatigue and quality of life in 51 pediatric MS patients to determine the rate of fatigue and reduced quality of life and assesses the relations between these variables and clinical factors. Fatigue and quality of life were assessed by self- and parent-report via the PedsQL Multidimensional Fatigue Scale and the PedsQL Quality of Life Scale. One-sample t-tests determined if scores were below published data for healthy individuals. Moreover, scores falling one standard deviation from norms were considered mildly affected, with severe difficulties being defined as scores falling two or more standard deviations from norms. Associations between self- and parent-reported difficulties and clinical factors were examined via Pearson correlation analyses. In comparison with healthy samples, pediatric MS patients reported greater difficulties with respect to fatigue, sleep, cognition, physical limitations, and academics. In addition to significant difficulties on these factors, parents reported problems with respect to emotional functioning, and tended to report greater fatigue, sleep, and cognitive difficulties than were self-reported. Expanded Disability Status Scale score was the only neurologic variable significantly related to fatigue or quality of life scores. Fatigue was significantly correlated with reports of sleep difficulties, cognitive problems, and quality of life variables. These findings suggest that fatigue and poorer quality of life is a clear concern in pediatric MS, and is related to overall physical disability

Effort assessment is of particular importance in pediatric epilepsy where neuropsychological findings may influence treatment decisions, especially if surgical interventions are being considered. The present investigation examines the Test of Memory Malingering (TOMM) in 60 children and adolescents with epilepsy. The overall pass rate for the sample was 90%. TOMM scores were unrelated to age, though there was a significant correlation between TOMM Trial 2 scores and intelligence estimates. Overall, the TOMM appears to be a valid measure of effort in young epilepsy patients, though caution should be used when interpreting scores for those with very low IQ, especially if behavioral problems are also evident. Caution should also be exercised in interpreting scores in children with ongoing interictal epileptiform activity that may disrupt attention

Baseline predictors of cognitive change were explored in a sample of persons with multiple sclerosis (MS). Potential predictors included demographic features, baseline clinical characteristics, and psychological state. Participants were 38 individuals diagnosed with either relapsing remitting or secondary progressive MS who did not meet criteria for a current major depressive episode. Subjects were tested at baseline and approximately 1 year in an ongoing longitudinal study of cognition in MS. Participants completed neuropsychological tests sensitive to impairment in MS. They also completed self-report measures of depression, anxiety, fatigue, apathy, and positive and negative affect. Baseline measures of negative affect (e.g., depressed mood, state anxiety, and negative affective state) consistently predicted cognitive change over the course of the study. Higher baseline levels of negative affect were associated with greater relative declines in cognitive performance. This longitudinal relation occurred in the absence of a cross-sectional relation between negative affect and overall cognition. High baseline negative affect particularly predicted a relative decline in episodic memory for newly learned verbal and visuospatial information. The negative affect measures were unique in their predictive value among all the baseline measures assessed. (JINS, 2009, 15, 53-61.)