Intellectual Outcome Research Articles

Design of a robotic device for the delivery of transcranial, magnetic resonance guided focused ultrasound for intraventricular hemorrhage of prematurity

Premature birth affects 12.5% of pregnancies, and as a result, intraventricular hemorrhage (IVH) of the brain with subsequent development of hydrocephalus is a major cause of morbidity, mortality, and poor intellectual outcomes. Prospective clinical trials to dissolve IVH clots with intraventricular infusion of tissue plasminogen activator through surgically implanted catheters demonstrated improved intellectual outcome in the survivors but at an increased risk of hemorrhage. A non-invasive method to lyse the clots may result in a reduced risk of subsequent hydrocephalus, and better intellectual outcome for these patients. Magnetic resonance guided focused ultrasound (MRgFUS) delivered through the open fontanel is such a therapy, but requires a versatile transducer positioning system that adapts to the MRI compatible transport and imaging incubator used to manage these fragile neonates.

Laser vision: lidar as a transformative tool to advance critical zone science

Abstract. Observation and quantification of the Earth's surface is undergoing a revolutionary change due to the increased spatial resolution and extent afforded by light detection and ranging (lidar) technology. As a consequence, lidar-derived information has led to fundamental discoveries within the individual disciplines of geomorphology, hydrology, and ecology. These disciplines form the cornerstones of critical zone (CZ) science, where researchers study how interactions among the geosphere, hydrosphere, and biosphere shape and maintain the "zone of life", which extends from the top of unweathered bedrock to the top of the vegetation canopy. Fundamental to CZ science is the development of transdisciplinary theories and tools that transcend disciplines and inform other's work, capture new levels of complexity, and create new intellectual outcomes and spaces. Researchers are just beginning to use lidar data sets to answer synergistic, transdisciplinary questions in CZ science, such as how CZ processes co-evolve over long timescales and interact over shorter timescales to create thresholds, shifts in states and fluxes of water, energy, and carbon. The objective of this review is to elucidate the transformative potential of lidar for CZ science to simultaneously allow for quantification of topographic, vegetative, and hydrological processes. A review of 147 peer-reviewed lidar studies highlights a lack of lidar applications for CZ studies as 38 % of the studies were focused in geomorphology, 18 % in hydrology, 32 % in ecology, and the remaining 12 % had an interdisciplinary focus. A handful of exemplar transdisciplinary studies demonstrate lidar data sets that are well-integrated with other observations can lead to fundamental advances in CZ science, such as identification of feedbacks between hydrological and ecological processes over hillslope scales and the synergistic co-evolution of landscape-scale CZ structure due to interactions amongst carbon, energy, and water cycles. We propose that using lidar to its full potential will require numerous advances, including new and more powerful open-source processing tools, exploiting new lidar acquisition technologies, and improved integration with physically based models and complementary in situ and remote-sensing observations. We provide a 5-year vision that advocates for the expanded use of lidar data sets and highlights subsequent potential to advance the state of CZ science.

Cumulative neurological factors associated with long-term outcomes in adult survivors of childhood brain tumors

Prior research has demonstrated the reliability and validity of the Neurological Predictor Scale (NPS) in relation to childhood brain tumor survivor outcomes; however, its use has not been examined in adult long-term survivors. The current study examines the concurrent validity of the NPS with long-term intellectual and adaptive outcomes in adult survivors of childhood brain tumors relative to individual variables alone. A total of 68 adult survivors of childhood brain tumors (M = 24 years old, SD = 4) almost 16 years post diagnosis (SD = 6) completed intellectual evaluations using the Wechsler Abbreviated Scale of Intelligence (WASI). Survivors’ adaptive functioning skills were assessed via informant structured clinical interviews (SIB-R). NPS scores were computed from data acquired from medical records. The NPS was significantly associated with intellectual (R2 = 0.208, p < .05) and adaptive outcomes (R2 = 0.30, p < .05) over and above individual risk factors. Approximately 18% of long-term survivors were identified as impaired in intellectual outcomes, and 29% were identified as impaired in adaptive functioning in everyday life skills. The NPS quantifies the cumulative effects of treatment and neurological sequelae experienced by both short- and long-term survivors of childhood brain tumors. It is a useful and easy measure to employ in clinical research that focuses on quantifying the neurological risk factors associated with long-term intellectual and adaptive functioning outcomes in adult survivors of childhood brain tumors.

Insights into the diagnosis and management of congenital hypothyroidism

Congenital Hypothyroidism is the commonest preventable cause of intellectual disability. Newborn screening with early identification and treatment has resulted in near normalisation of long term intellectual outcomes in the affected children. However, a number of issues still remain to be clarified. Firstly, while there has been a marked improvement in intellectual outcomes many studies have shown persistent cognitive deficits compared to control populations. It has generally been considered that this deficit reflected antenatal reductions in fetal thyroxine exposure and was unavoidable. However, variables such treatment delay and low thyroxine doses when initiating may also contribute. There is now data to suggest early diagnosis and treatment with high dose thyroxine and frequent blood testing can result in completely normal cognitive outcome when compared to healthy siblings. Treatment paradigms will be discussed that normalise cognition, with suggestions of management regimes that can be used in areas of the Asia-Pacific region where thyroid function testing is more difficult. The frequency of congenital hypothyroidism is increasing world-wide. This is in part related to changes in the newborn cut-offs which have reduced in many countries. Other reasons have also been suggested and the ethnic composition of the countries seems very relevant. Asian and Pacific peoples appear to have a much higher incidence of dyshormonogenesis and rates are of congenital hypothyroidism are climbing more rapidly in countries where the proportion of these ethnicities is increasing. There also remains ongoing concern about the appropriate cut-offs for notification of hypothyroidism. Indeed there has been an international trend for lower cut-offs resulting in many children being diagnosed with sub-clinical hypothyroidism. The relevance of diagnosing these children remains unclear with most likely being normal. I will discuss the use of different cut-offs and how these can affect the diagnosis and management of congenital hypothyroidism, as well as what should be the appropriate cut-offs in less affluent countries and the common reasons for missed diagnoses.

Intellectual abilities in tuberous sclerosis complex: risk factors and correlates from the Tuberous Sclerosis 2000 Study.

Tuberous sclerosis complex (TSC) is associated with intellectual disability, but the risk pathways are poorly understood. The Tuberous Sclerosis 2000 Study is a prospective longitudinal study of the natural history of TSC. One hundred and twenty-five UK children age 0-16 years with TSC and born between January 2001 and December 2006 were studied. Intelligence was assessed using standardized measures at ≥2 years of age. The age of onset of epilepsy, the type of seizure disorder, the frequency and duration of seizures, as well as the response to treatment was assessed at interview and by review of medical records. The severity of epilepsy in the early years was estimated using the E-Chess score. Genetic studies identified the mutations and the number of cortical tubers was determined from brain scans. TSC2 mutations were associated with significantly higher cortical tuber count than TSC1 mutations. The extent of brain involvement, as indexed by cortical tuber count, was associated with an earlier age of onset and severity of epilepsy. In turn, the severity of epilepsy was strongly associated with the degree of intellectual impairment. Structural equation modelling supported a causal pathway from genetic abnormality to cortical tuber count to epilepsy severity to intellectual outcome. Infantile spasms and status epilepticus were important contributors to seizure severity. The findings support the proposition that severe, early onset epilepsy may impair intellectual development in TSC and highlight the potential importance of early, prompt and effective treatment or prevention of epilepsy in tuberous sclerosis.

PRINCIPLES OF IMPLEMENTATION AXIOLOGICAL APPROACH TO CULTURAL DEVELOPMENT EMOTIONAL EXPRESSION TEENAGERS

The problem of axiology is the subject of great attention in the crucial moments of life. The main goal of treatment researchers to this problem was the education of emotional reflection among the younger generation. Axiological approach, turned to value-semantic sphere, provides focus formation process and the integrity of the functioning of all mental spheres of personality; it activates its self-awareness, and establishes connection between consciousness and behavior. Adolescent behavior is based on the principle of the unity of personality, culture, and activity, which allows us to talk about the importance of cultural development of emotional expression. The expression is based on the experience as a process taking place on the emotional and intellectual level of human consciousness, in most cases not noticeable to others. His intellectual outcome is the experience, and the emotional spectrum of emotions. And, if a positive result was achieved, the visible result is a high level of culture of emotional expression.

Developmental Trajectories of Young Children with Neurofibromatosis Type 1: A Longitudinal Study from 21 to 40 Months of Age

To establish the developmental trajectory of young children with neurofibromatosis type 1 (NF1) during the first 4 years of life. In this longitudinal study, 39 children with NF1 and 39 controls were assessed with the Bayley Scales of Infant Development, Second Edition at 21 (time point 1, or T1) and 30 months (T2) of age, and the Wechsler Preschool and Primary Scale of Intelligence, Third Edition at 40 months (T3). Language was also assessed at T2 and T3. Parents rated their child's productive vocabulary at T1 and T2, and behavior at each time point. Linear mixed models were performed to examine cognitive development and behavior over time. Linear regressions were conducted to determine whether mental development and productive vocabulary at T1 or T2 predicted intellectual and language outcomes at T3. Over time, the NF1 group had significantly lower cognitive scores than controls. Parent ratings indicated no group differences in behavior at each time point. Earlier mental function significantly predicted later general intelligence. Earlier productive vocabulary was a significant predictor of later language skills. There are consistent differences over time in cognitive performance between children with NF1 and unaffected peers during the early childhood period. Earlier mental function and productive vocabulary are significant predictors of subsequent general intelligence and performance on language measures in NF1. This provides an opportunity for early identification and treatment for young children with NF1 who may show signs of impairments in these developmental domains.

White matter compromise predicts poor intellectual outcome in survivors of pediatric low-grade glioma.

While the impact of cranial radiation on white matter following treatment for pediatric brain tumor has been the focus of many recent studies, the effect of treatment in the absence of radiation has received little attention. The relations between white matter and cognitive outcome have not been explored in patients who have undergone radiation-free treatment. As most patients treated without cranial radiation survive long after their diagnosis, it is critical to identify factors that may impact structural and neurocognitive outcomes. Using diffusion tensor imaging, we examined white matter structure in 32 patients with pediatric low-grade glioma (PLGG) (19 with subtentorial location and 13 with supratentorial location) and 32 healthy participants. Indices of intellectual functioning were also evaluated. Radiation was not used to treat this cohort, aged 8-19 years. We detected evidence of deficits in IQ and compromised supra- and subtentorial white matter in patients relative to healthy children (P < .05). Compromise of supratentorial white matter mediated the impact of treatment for PLGG on IQ. Greater white matter compromise was observed in patients who presented without multiple symptoms, were treated with biopsy/no surgery, had positive neurofibromatosis 1 status, were younger age at diagnosis, and whose parents had lower levels of education (P < .05). Our findings provide evidence of increased risk of intellectual and white matter compromise in patients treated for PLGG without radiation. We identify a neural origin of cognitive deficit useful for predicting outcome and mitigating long-term adverse effects in pediatric brain tumor patients treated without cranial radiation.

Long-term outcome in children with infantile spasms treated with vigabatrin: a cohort of 180 patients.

Evaluation of efficacy of vigabatrin as the first drug in infants with previously untreated infantile spasms (IS) and reporting the long-term outcome. We analyzed a cohort of 180 infants with infantile spasms treated with vigabatrin as the first drug. Following initial evaluation and a 48-h basal period for counting the spasms, vigabatrin was administered using the same protocol in all. After 14 days all infants were assessed for therapeutic response (primary outcome). Psychomotor development was evaluated by a psychologist and neurologist prior to the initiation of treatment and during the follow-up. Seizure outcomes were followed prospectively, by seizure types and epilepsy syndromes. Long-term (secondary) outcomes included neurologic status, occurrence of late epilepsy, and developmental/cognitive status. Vigabatrin terminated the spasms in 101 patients (56.9%) at a mean period of 5 days. Patients with normal psychomotor development prior to the onset of spasms responded best. After follow-up of 2.4 to 18.9 years (mean 10.64; standard deviation [SD] 4.40), 38.1% of responders, treated with vigabatrin, had severe neurologic dysfunction, 42% had epilepsy, and 42.2% had unfavorable intellectual outcome. The group with symptomatic etiology and abnormal neurologic status at presentation demonstrated a significantly worse prognosis and a more unfavorable outcome than cryptogenic or idiopathic cases (85.1% and 81.6% versus 14.9% and 0%-p = 0.001). Idiopathic patients treated with vigabatrin were all intellectually normal, except the youngest patient who had borderline cognitive function. The most important prognostic factors were the underlying etiology and preexisting developmental profile. Long-term outcome in the patients treated with vigabatrin was similar to the outcome in patients treated with adrenocorticotropic hormone (ACTH) or corticosteroids, as reported in earlier studies. The long-term prognosis of idiopathic cases treated with vigabatrin was favorable.

C-29 * Intellectual Ability and Functional Outcome in Bipolar Disorder and Schizophrenia

Objective: Deficits in intellectual ability and functional outcome are consistently found in schizophrenia (SZ). Recently, there has been a growing interest in the role of psychotic symptoms in bipolar disorder (BP) as markers for impairment typically associated with SZ. This study examined intellectual ability and functional outcome in BP with psychotic features (BP+), BP without psychotic features (BP-), SZ, and normal controls (NC). Method: Individuals (71 SZ, 60 BP + , 68 BP-, 51 NC) were assessed using the UCSD Performance Based Skills Assessment (UPSA), which assesses everyday functioning in five domains (comprehension, finance, transportation, and household skills). Additionally, subtests from the Wechsler Adult Intelligence Scale-III were used to estimate IQ. Results: Results indicated that the SZ group performed worse on all domains of the UPSA and had a lower estimated IQ compared to the BP + , BP-, and NC groups (p < .05). Only performance on the transportation scale of the UPSA differentiated BP + , BP- and NC groups, with the BP+ group performing significantly lower (p < .05). Estimated IQ did not differ between the BP + , BP-, and NC groups and was correlated with all UPSA domains. Conclusion(s): Consistent with previous findings, results indicate impaired intellectual functioning and deficits across functional domains in SZ. This study extends findings to BP, indicating that the transportation scale of the UPSA may be sensitive to psychotic symptoms. Given that intellectual abilities did not differ between BP+ and BP-, further research should investigate cognitive processes underlying this impairment as a potential therapeutic target relevant for improving everyday functioning in the disorder.

Mapping More Than Aboriginal Studies: Pedagogy, Professional Practice and Knowledge

As undergraduate curriculum is increasingly required to meet a range of intellectual, professional practice and personal learning outcomes, what purpose does Australian Aboriginal Studies have in curriculum? Most Australian universities are currently in the process of developing institution-wide approaches to Indigenous Australian content in undergraduate curricula. One Australian university began this task by mapping how, where and why Indigenous perspectives, issues and content are included in undergraduate curriculum. This article reports on the findings of the mapping of Indigenous content and approaches to teaching at the University of Technology, Sydney (UTS) and thereby contributes to a strengths-based approach to understanding the purpose of Indigenous perspectives and issues in undergraduate curricula.

The Changing Concept of Advertising and Promotional Technology

The study focuses on the various dimensions of advertising and promotional technologies in marketing. The concept of integrated marketing communications that provides an overview for advertising and promotion and its role in modern marketing were discussed along with the concept of Integrated Marketing Communication (IMC) and the factors that have influenced the growth and the roles advertising play in the overall marketing programmes of the intellectual outcomes for creative minds. Each element in the promotional mix, was also examined. The paper attempt to provide a model framework for developing IMC programme in a developing economy for effective distribution of creative works.

Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis.

To examine intellectual, behavioral, and emotional functioning of children who have syndromic craniosynostosis and to explore differences between diagnostic subgroups. A national sample of children who have syndromic craniosynostosis participated in this study. Intellectual, behavioral, and emotional outcomes were assessed by using standardized measures: Wechsler Intelligence Scale for Children, Third Edition, Child Behavior Checklist (CBCL)/6-18, Disruptive Behavior Disorder rating scale (DBD), and the National Institute of Mental Health Diagnostic Interview Schedule for Children. We included 82 children (39 boys) aged 6 to 13 years who have syndromic craniosynostosis. Mean Full-Scale IQ (FSIQ) was in the normal range (M = 96.6; SD = 21.6). However, children who have syndromic craniosynostosis had a 1.9 times higher risk for developing intellectual disability (FSIQ < 85) compared with the normative population (P < .001) and had more behavioral and emotional problems compared with the normative population, including higher scores on the CBCL/6-18, DBD Total Problems (P < .001), Internalizing (P < .01), social problems (P < .001), attention problems (P < .001), and the DBD Inattention (P < .001). Children who have Apert syndrome had lower FSIQs (M = 76.7; SD = 13.3) and children who have Muenke syndrome had more social problems (P < .01), attention problems (P < .05), and inattention problems (P < .01) than normative population and with other diagnostic subgroups. Although children who have syndromic craniosynostosis have FSIQs similar to the normative population, they are at increased risk for developing intellectual disability, internalizing, social, and attention problems. Higher levels of behavioral and emotional problems were related to lower levels of intellectual functioning.

Interstitial deletion 1p36.32 in two brothers with a distinct phenotype – Overgrowth, macrocephaly and nearly normal intellectual function

We report on two adult patients, who both presented with overgrowth and one of them additionally with macrocephaly while carrying an 1p36 microdeletion of about 2.1 Mb. They are full brothers born to unaffected parents. Although both brothers attended special schools, they lived independently without a legal guardian and were able to succeed in regular jobs. One of the brothers received a professional education. Genetic analysis of the parents revealed neither the microdeletion nor a cryptical translocation or inversion. We suggest that the recurrent deletion is a result of germline mosaicism, a phenomenon reported only once in the context of the 1p36 microdeletion syndrome.Our report confirms the recurrence of the apparently de novo 1p36 microdeletion due to a likely germline mosaicism of one of the parents. Furthermore, it illustrates the possibility of the distinct phenotype with a nearly normal intellectual outcome of the 1p36 microdeletion syndrome that might be due to the region involved in our patients.

Longitudinal Study of Cognitive and Academic Outcomes after Pediatric Liver Transplantation

To determine the evolution of cognitive and academic deficits and risk factors in children after liver transplantation. Patients ≥2 years after liver transplantation were recruited through Studies of Pediatric Liver Transplantation. Participants age 5-6 years at Time 1 completed the Wechsler Preschool and Primary Scale of Intelligence, 3rd edition, Wide Range Achievement Test, 4th edition, and Behavior Rating Inventory of Executive Function (BRIEF). Participants were retested at age 7-9 years, Time 2 (T2), by use of the Wechsler Intelligence Scales for Children, 4th edition, Wide Range Achievement Test, 4th edition, and BRIEF. Medical and demographic variables significant at P ≤ .10 in univariate analysis were fitted to repeated measures modeling predicting Full Scale IQ (FSIQ). Of 144 patients tested at time 1, 93 (65%) completed T2; returning patients did not differ on medical or demographic variables. At T2, more participants than expected had below-average FSIQ, Verbal Comprehension, Working Memory, and Math Computation, as well as increased executive deficits on teacher BRIEF. Processing Speed approached significance. At T2, 29% (14% expected) had FSIQ = 71-85, and 7% (2% expected) had FSIQ ≤70 (P = .0001). A total of 42% received special education. Paired comparisons revealed that, over time, cognitive and math deficits persisted; only reading improved. Modeling identified household status (P < .002), parent education (P < .01), weight z-score at liver transplantation (P < .03), and transfusion volume during liver transplantation (P < .0001) as predictors of FSIQ. More young liver transplantation recipients than expected are at increased risk for lasting cognitive and academic deficits. Pretransplant markers of nutritional status and operative complications predicted intellectual outcome.

ABSTRACT 360

Background and aims: Benign epilepsies during infancy are characterized with a normal development before onset and a benign outcome. There is a need for standardized tests to evaluate the detailed intellectual and/or educational outcome of patients. Denver Developmental Screening Test is appropriate for ages between 0 and 72 months, and evaluates fine motor and gross motor skills, language, and adaptive personal/social skills. The developmental outcome scores are set for these four skills and total development. Aims: We aimed to investigate the neurocognitive outcome in children with benign infantile seizures. Methods: The neurologic outcome of children with benign infantile seizures were reevaluated with Denver developmental screening test and neurologic examination. The parent of each participant signed an informed consent form and the study was approved by the Ethics Committee of Zeynep Kamil Maternity and Childrens’ Training and Research Hospital. Results: Forty-two patients were evaluated. Neurologic examinations were normal in all children. Fine motor and gross motor skills, language and adaptive personal/social skills were near-normal in all patients with benign familial infantile seizures. Delay in language parameters were recorded in two patients with Benign non-familial infantile seizures. Language parameters were recorded as borderline in one patient and the other patient had near-normal gross motor skills, borderline adaptive personal/social skills and fine motor skills, significant delay in language parameters. Both patients with pathologic signs were male. Conclusions: Psychosocial and cognitive development of infants should be closely monitored. Language skills should be thoroughly evaluated with detailed neurocognitive screening tests in patients with benign non-familial infantile seizures.

Are different soil metals near the homes of pregnant women associated with mild and severe intellectual disability in children?

We explored the association of relatively low concentrations of metals in the soil proximal to maternal residence during pregnancy, with intellectual disability. We hypothesized different metals would be associated with mild versus severe intellectual disability. We used a mixed methods design, starting with a retrospective cohort from 1996 to 2002, of 10,051 pregnant mothers, soil sampling in the areas where these mothers resided during pregnancy, and follow-up of their children to determine if there was an intellectual disability outcome. We tested the soil and then predicted the soil concentration at the maternal homes, and modeled the association with the severity of the child's intellectual disability. We found a significant positive association between mild intellectual disability and soil mercury (p=0.007). For severe intellectual disability, there was a significant positive association with the soil arsenic and lead (p=0.025). This is the first report of the differential impact of metals in soil and severity of intellectual disability in children. Soil mercury concentration in the area the mother lived during pregnancy is associated with significantly increased odds of mild intellectual disability; a combination of arsenic and lead is associated with significantly increased odds of severe intellectual disability. These associations are present when controlling for maternal, child, and neighborhood characteristics.

Impact of Craniospinal Dose, Boost Volume, and Neurologic Complications on Intellectual Outcome in Patients With Medulloblastoma

To examine the impact of radiation (ie, craniospinal irradiation [CSR] dose and boost volume) and complications (ie, hydrocephalus and other neurologic complications, including mutism) on patterns of change in intellectual functioning in medulloblastoma survivors. We conducted a retrospective review of 113 patients treated for medulloblastoma between 1983 and 2011 who were seen for neuropsychological assessment, including longitudinal follow-up of intellectual function. Patients were treated with either standard-dose CSR with a posterior fossa (PF) boost (n=51), standard-dose CSR plus tumor bed (TB) boost (n=9), reduced-dose CSR plus PF boost (n=28), or reduced-dose CSR plus TB boost (n=23), with or without chemotherapy. A subset of patients developed hydrocephalus that required cerebrospinal fluid (CSF) diversion (n=54) and/or other neurologic complications (n=40), more than half of which were postoperative mutism (n=25). Growth curve analysis was used to determine stability or change in intelligence scores over time. Patients treated with reduced-dose CSR plus TB boost showed stable intellectual trajectories, whereas patients treated with higher doses and larger boost volumes experienced intellectual declines. Presence of complications was associated with worse intellectual outcome; however, hydrocephalus requiring CSF diversion and mutism differed in their pattern of decline. These results improve our understanding of factors that impair intellectual outcome in patients treated for medulloblastoma. Lower doses of CSR and smaller boost volumes seem to mitigate intellectual decline. Our findings validate the use of TB boost and suggest PF boost should be reconsidered.

Long‐term course of Dravet syndrome: A study from an epilepsy center in Japan

This study attempted to clarify the long-term course of Dravet syndrome (DS). Sixty-four patients diagnosed with DS (44 with typical DS, and 20 with atypical DS) were studied. The long-term outcomes of clinical seizures, electroencephalographic findings, neuropsychological findings, and social situation were analyzed. The follow-up period ranged from 11 to 34years 5months (median 24years). At the last visit, the ages ranged from 19years to 45years (median 30years). Fifty-nine patients continued to have generalized tonic-clonic seizures (GTCS). Status epilepticus and unilateral seizures were not observed and myoclonic seizures, atypical absence seizures, and photosensitive seizures were resolved in most patients. The frequency of complex partial seizures was equally low, with five patients at presentation and six patients at the last visit, respectively. Five patients achieved seizure remission (seizure-free for 1year or longer). Only 1 of 44 patients with typical DS had seizure remission, whereas 4 of 20 patients with atypical DS remitted, with a statistically significant difference between the two phenotypes (p=0.03). Intellectual disability was found in all patients; especially, severe intellectual disability was prevalent. Patients with atypical DS tended to have milder intellectual disability compared to those with typical DS (p=0.0283). Occipital alpha rhythm in the basic activity was associated with milder intellectual disability (p=0.0085). The freedom from seizures correlated with appearance of occipital alpha rhythms (p=0.0008) and disappearance of epileptic discharges (p=0.0004). Two patients with GTCS died. Mutations of the neuronal voltage-gated sodium channel alpha subunit type 1 gene were detected at a high frequency (33 of 36 patients examined). Seizure remission was found only in the missense mutation group. The long-term seizure and intellectual outcomes are extremely poor in patients with typical DS compared to those with atypical DS. Epilepsy phenotype may influence long-term course of DS.

Examination of risk factors for intellectual and academic outcomes following treatment for pediatric medulloblastoma

The aim of this study was to prospectively examine the effects of hearing loss and posterior fossa syndrome (PFS), in addition to age at diagnosis and disease risk status, on change in intellectual and academic outcomes following diagnosis and treatment in a large sample of medulloblastoma patients. Data from at least 2 cognitive and academic assessments were available from 165 patients (ages 3-21 years) treated with surgery, risk-adapted craniospinal irradiation, and 4 courses of chemotherapy with stem cell support. Patients underwent serial evaluation of cognitive and academic functioning from baseline up to 5 years post diagnosis. Serious hearing loss, PFS, younger age at diagnosis, and high-risk status were all significant risk factors for decline in intellectual and academic skills. Serious hearing loss and PFS independently predicted below-average estimated mean intellectual ability at 5 years post diagnosis. Patients with high-risk medulloblastoma and young age at diagnosis (<7 years) exhibited the largest drop in mean scores for intellectual and academic outcomes. Despite a significant decline over time, intellectual and academic outcomes remained within the average range at 5 years post diagnosis for the majority of patients. Future studies should determine if scores remain within the average range at time points further out from treatment. Patients at heightened risk should be closely monitored and provided with recommendations for appropriate interventions.