Cognitive functions in neurofibromatosis type 1 patients and unaffected siblings

Attention, learning, and perceptual problems have been reported at various degrees and rates in neurofibromatosis type 1 (NF1). We aimed to define the cognitive profiles frequently associated with NF1. Children and adolescents with NF1 (n=58) were tested using Wechsler Intelligence Scales for Children-Revised (WISC-R), Judgment of Line Orientation, and Bender Visual-Motor Gestalt tests. Comparison groups were unaffected siblings of NF1 patients (n=20), children with attention deficit and hyperactivity disorder (ADHD, n=40), and normal children (n=40). No difference was found between familial or sporadic NF1 cases. Seventeen/58 (29%) of NF1 cases had a full scale IQ 80 (n=27) scored lower in WISC-R subtests measuring visual perception when compared to a healthy control group of similar intelligence, and lower in arithmetic but better in Bender-Gestalt and Judgment of Line Orientation tests when compared to an ADHD group of similar intelligence. These results indicate a high prevalence of mental retardation in a clinical NF1 series. NF1 patients who have normal intelligence may have impaired visual perception, but their visual perceptual problems are less than in ADHD. The tendency of unaffected siblings of NF1 patients to have mildly but consistently low test scores compared to healthy controls needs to be studied further for underlying genetic or environmental factors

Clinical Characteristics of 10 Patients With Continuous Spikes and Waves During Slow Sleep Syndrome

PubMedID: 18486823Continuous spikes and waves during slow sleep syndrome is characterized by the presence of spike-and-wave discharges in at least 85% of non-rapid eye movement sleep. Associated clinical features vary. Here, features of 10 patients with this syndrome are compared to those in the literature. Patients ranged in age from 4 to 11 years. All patients had predominantly nocturnal partial motor or generalized tonic-clonic seizures; four patients also had daily atonic seizures. All 10 patients had different degrees of neuropsychologic disturbances: 9 patients had low intelligence quotient scores (the 10th, diagnosed attention deficit and hyperactivity disorder, had normal intelligence quotient score); 4 patients had autistic-like features. Apart from mental retardation (7 of 10), physical and neurologic findings were normal. Significant pyramidal signs and microcephaly were detected in two patients, and hypotonia, ataxia, and bilateral pyramidal signs were found in one other. Cranial magnetic resonance imaging findings were normal for 6 patients; the other 4 had some abnormal findings. Continuous spikes and waves during slow sleep syndrome is a rare epileptic syndrome in childhood. A variety of clinical and neurocognitive features were found in patients with continuous spikes and waves during slow sleep syndrome. © 2008 Elsevier Inc. All rights reserved

Effect of methylphenidate on neuropsychological functions in children with attention deficit hyperactivity disorder [Dikkat eksikligi hiperaktivite bozuklugu olan çocuklarda metilfenidatın nöropsikolojik İşlevler üzerine etkisi]

Objective: The aim of this study was to investigate the effects of six months of treatment with long acting methylphenidate (concerta) on neuropsychological functions such as intelligence, selective attention, attention set shifting, resistance to interference, speed of information processing and multimodal short term memory, and the response to treatment. Material and Methods: The study consisted of 20 boys aged 6 to 12 years, who were refered to our outpatient clinic and had a diagnosis of Attention Deficit Hyperactivity Disorder (ADHD). Paricipants were given the Wechsler Intelligence Scale for Childen-Revised (WISC-R) and a neuropsychological battery that consisted of Stroop Test TBAG Form (STP) and Visual auditory Digit Span-B (VADS-B) before and sixth months after methylphenidate treatment. Differences between test scores obtained from neuropsychological assesment before and after sixth months of teatment were analyzed by the Wilcoxon Signed Rank Test. Results: Methylphenidate treatment had a significant effect on performance intelligence scores of WISC-R; additionally this treatment affected significantly the majority of STP and VADS-B scores. The performance on all tests increased after methylphenidate treatment. Conclusion: The results of our study showed that methylphenidate treatment had positive effects on the scores representing intelligence and different types of attention. Future studies on larger study groups would cast furher light on the effects of methylphenidate treatment on cognitive processes including intelligence and a wide range of neuropsychological processes. © 2013 by Türkiye Klinikleri

Cognitive functions in neurofibromatosis type 1 patients and unaffected siblings

PubMedID: 20196390Attention, learning, and perceptual problems have been reported at various degrees and rates in neurofibromatosis type 1 (NF1). We aimed to define the cognitive profiles frequently associated with NF1. Children and adolescents with NF1 (n=58) were tested using Wechsler Intelligence Scales for Children-Revised (WISC-R), Judgment of Line Orientation, and Bender Visual-Motor Gestalt tests. Comparison groups were unaffected siblings of NF1 patients (n=20), children with attention deficit and hyperactivity disorder (ADHD, n=40), and normal children (n=40). No difference was found between familial or sporadic NF1 cases. Seventeen/58 (29%) of NF1 cases had a full scale IQ 80 (n=27) scored lower in WISC-R subtests measuring visual perception when compared to a healthy control group of similar intelligence, and lower in arithmetic but better in Bender-Gestalt and Judgment of Line Orientation tests when compared to an ADHD group of similar intelligence. These results indicate a high prevalence of mental retardation in a clinical NF1 series. NF1 patients who have normal intelligence may have impaired visual perception, but their visual perceptual problems are less than in ADHD. The tendency of unaffected siblings of NF1 patients to have mildly but consistently low test scores compared to healthy controls needs to be studied further for underlying genetic or environmental factors

Relationship between metabolic control and neurocognitive functions in children diagnosed with type I diabetes mellitus before and after 5 years of age

PubMedID: 23692715We aimed to investigate the effects of age onset of diabetes, glycemic control and frequency of hypoglycemia on neurocognitive functions in type I diabetic children. Sixty type I diabetic children with diagnosis before (Group 1) or after (Group 2) five years of age and 40 healthy children were tested. Wechsler Intelligence Scale for Children Revised (WISC-R), Stroop Test, and Visual Auditory Digit Span Test Form B were applied to all children in the two groups. Neurocognitive functions such as visual perception, short-term memory and selective attention were seen to be negatively affected at a significant level. Group 1 patients with poor glycemic control were found to have significant dysfunction in verbal, performance and general intelligence. Neurocognitive functions were negatively affected by early onset of diagnosis, poor glycemic control and frequent hypoglycemia in children with type I diabetes mellitus. We suggest that negative effects on neurocognitive functions in type I diabetes should be considered in the follow-up of these patients

Phosphatase Inhibitors Function as Novel, Broad Spectrum Botulinum Neurotoxin Antagonists in Mouse and Human Embryonic Stem Cell-Derived Motor Neuron-Based Assays.

There is an urgent need to develop novel treatments to counter Botulinum neurotoxin (BoNT) poisoning. Currently, the majority of BoNT drug development efforts focus on directly inhibiting the proteolytic components of BoNT, i.e. light chains (LC). Although this is a rational approach, previous research has shown that LCs are extremely difficult drug targets and that inhibiting multi-serotype BoNTs with a single LC inhibitor may not be feasible. An alternative approach would target neuronal pathways involved in intoxication/recovery, rather than the LC itself. Phosphorylation-related mechanisms have been implicated in the intoxication pathway( s) of BoNTs. However, the effects of phosphatase inhibitors upon BoNT activity in the physiological target of BoNTs, i.e. motor neurons, have not been investigated. In this study, a small library of phosphatase inhibitors was screened for BoNT antagonismin the context of mouse embryonic stem cell-derived motor neurons (ES-MNs). Four inhibitors were found to function as BoNT/A antagonists. Subsequently, we confirmed that these inhibitors protect against BoNT/A in a dose-dependent manner in human ES-MNs. Additionally, these compounds provide protection when administered in post-intoxication scenario. Importantly, the inhibitors were also effective against BoNT serotypes B and E. To the best of our knowledge, this is the first study showing phosphatase inhibitors as broad-spectrum BoNT antagonists