Luke's Tuberous Sclerosis Page
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CORRELATION OF NEUROPSYCHOLOGIC AND NEUROIMAGING FINDINGS IN TUBEROUS SCLEROSIS Anna M. Weber, Ph.D., JohnC. Egelhoff D.O., David N. Franz, MbiDbi Departments of Pediatrics, Neurology, and Radiology, University of Cincinnati College of Medicine, Children’s Hospital Medical Center, Cincinnati, Ohio The relationship of the structural lesions of tuberous sclerosis (TS) to the cognitive and behavioral deficits common in this disorder remains unclear. Shepherd et al. (1995)found that mental impairment, defined as requirement for special educational help, was more common in individuals with certain types of imaging findings. Curatolo et al. (1991) found that seizures, autism, and attentional deficits were more common in patients with four or more cortical tubers. More sensitive or measures of cognitive function have not been examined in a systematic, prospective fashion in the context of other clinical and radiographic features of TS. This study characterizes the neuro psychological status of a group of 30 patients with TS, ranging in age from 6 months to 34 years, in relation to specific neuroimaging findings, presence and severity of seizure disorder, and anticonvulsant medication. The neuropsychological assessment included general measures of development and intelligence, as well as academic achievement, language, visual-perceptual and visual-constructional abilities, attention, memory, problem-solving, and motor and sensory function. Behavioral ratings were also obtained for those patients 18 years old or younger. MRI scans were scored on the basis of the number and location of lesions, enhancement, size of the ventricles and extra-axial spaces, brainstem involvement, vascular pattern, and migrational anomalies. The developmental and intellectual scores for the group ranged from 40 to 98 on tests with a mean = 100 ands.d = 15. In addition, six of the patients have been thus far untestable, although our attempts to quantify their level of performance continue. Thus, the group demonstrated variable functioning ranging from significant impairment to normal developmental progress and intelligence .As expected, patients with lower developmental and intellectual functioning had a greater absolute number of findings on MRi scan. Similarly, these patients had more widespread lesions(i.e., bilateral versus unilateral lesions, multiple lobe involvement versus discrete involvement). Specific MRI correlates of particular neuropsychological and behavioral problems will be examined. References: Curatolo, P., Cusmai, R.,Cortesi, F., Chiron, C., Jambaque, I., & Dulac, 0. (1991). Neuropsychiatricaspects of tuberous sclerosis. Annals of the New York Academy ofScience, 615 8-16.Shepherd, C.W., Houser,0.W., & Gomez, M.R. (1995). MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment. American Journal of Neuroradiology, 16 149-155. EVIDENCE OF COGNITIVE DYSFUNCTION IN PEOPLE WITH TSC AND OF NORMAL INTELLECT. John Harrison, Finbar O'Callaghan, JohnOsboume, Adrian Owen, Barbara Sanaban and Patrick Boltozi Cognitive dysfunction in individuals with TS has remained a relatively unexplored aspect of the condition The two published studies conducted to date have suggested that considerable variation is to be found, but no study has tested individuals with TS who present as being of apparently normal intellect. We report a study of *5 individuals who satisfy current diagnostic criteria for TS and who present clinically as being of normal intellect. Assessment of this group and a group of unaffected control subjects, matched for age, showed 50% of the IS group to be entirely free of dysfunction on any component of a broad battery of neuropsychological assessments. However, other patients were found to exhibit poor performance on one or more tests, though the nature of the observed cognitive deficit varied markedly, reflecting the previously noted variability of dysfunction in TS. An exception to this was that on one particular task (the 'ID/ED' shift), a test of visual discrimination and attentional set-shifting, a number of IS patients exhibited grossly abnormal performance. Further investigations suggest that this group also performed significantly worse than the unimpaired IS group on tests with a verbal semantic component. This association may reflect common areas of brain damage in those patients who exhibit impaired performance on these tasks. MELATONIN AND THE SLEEPDISORDER OF TUBEROUS SCLEROSIS. F.J.O'Callaghan, A.Clarke, A.Hunt, J.English, J.Arendt, J.P.Osborne. The Bath Unit forResearch into Paediatrics, Royal United Hospital, Combe Park, Bath, U.K.and School of Biological Sciences, University of Surrey, Guildford,U.K. Melatonin is a hormone produced by the pineal gland in the brain and is involved in regulating the sleep-wake cycle in man. It has previously been used therapeutically' to regulate the sleep patterns of blind patients shift workers, sufferers from jet-lag, and most recently normally sighted handicapped children. It is well documented that children with Tuberous Sclerosis (TS) have significant sleep problems and therefore this study investigates whether (a) TS patients with sleep disorder have normal melatonin levels and(or normal patterns of melatonin secretion and (b) whether melatonin can be used therapeutically to ameliorate the sleep disorder in these patients. (a) Melatonin Excretion Study':Melatonin production in humans can be estimated by measurement of the urina& metabolite of melatonin, &sulphatoxymelatonin which correlates well with plasma melatonin concentrations. In this study S subjects with a known diagnosis of TS were recruited. All subjects had a severe sleep disorder as illustrated by answers to Quines Sleep Questionnaire and parent/carer completed sleep diaries. Urine was collected from each subject over a 48 hour period at approximately' 4 hour intervals and analysed for 6-sulphatoxymelatonin and creatinine levels. Results for melatomn output will be expressed by relation to creatinine excretion. (b) Trial of Melatonin Therapy:10 patients with TS and severe sleep disorder (defined as in excretion study) were recruited. The study was designed as a randomized double blind placebo controlled trial. Trial duration was 5 weeks. During the trial subjects received 2 weeks of active treatment (5mg of melatonin nocte) and 2 weeks of inactive treatment (5mg ofplacebo nocte) There was a one week wash-out period between treatment phases. Patients were randomly allocated as to what order they received their active or inactive treatment. Sleep performance over the 5 week period was assessed by parent/carer completed sleep diaries which were compared to baseline sleep diaries completed before entry into the study. TUBEROUS SCLEROSIS OF THE TEMPORAL LOBES IS ASSOCIATED WITH AUTISM AND ATYPICAL AUTISM Patrick Bolton University of Cambridge Developmental Psychiany Section Paul Griffiths Department of Radiology Addenbrooke's NEIS Trust Tuberous sclerosis is strongly associated with the development of autism and atypical autism, although the reason for this has been unclear. We have investigated brain-behavior correlates in a sample of 19 consecutive clinic referrals in an attempt to examine the basis of the association. B rain scans on 18 subjects were available and were rated by an experienced neuroradiologist (blind to the clinical details), for the presence and location of cortical tubers. Conversely, clinical diagnoses, made according to ICD-lO criteria, were undertaken blind to the scan data. The investigation of the relationship between tuber location and clinical diagnosis focused on three brain regions (frontal, temporal, cerebellar) that had previously been implicated in the brain-basis of autism. Nine subjects suffered from autism or atypical autism and the remainder from a mix of other psychiatric disorders. Eight of the 9 subjects with autism/atypical autism had tubers in the temporal lobes, compared with none of the nine non-autistic controls (p = 0.0009). There were no other significant associations between the diagnosis of autism/atypical autism and tubers located in the frontal or cerebellar regions. This study indicates that the association between autistic syndromes and tuberous sclerosis is related to temporal lobe involvement, and this, in turn, provides an important lead in furthering our understanding of the brain basis of autism. NEW CASES OF AUTISM TUBEROUS SCLEROSIS CONTLEX WITH RETARDATION Vranjes_vid Di. Njjjjc%Rasid V. Jovjd Ni.Karakild Di Clinic for Child Neurology andPsychchiatrv Dr Subotida 6a Street. 11000 Belgrade. Yugoslavia We have started the research in institutions for mental retardation and infantile cerebral palsy. Its admist discovering of new cases of dystonia, Tuberous sclerosis complex (TSC), autism or Rett syndrome. Also, the aim is to find Organic etiologies among autistic children in institutions for autism in Belgrade. Our preliminarv results show one case with Segawa disease among children diagnosed as infantiale cerebral palsy and two cases with TSC and autism among children with mental retardation. We present these two patients (F:1,M :1). The main characteristics of them are severe mental retardation and epilepsy. The seizures started with infantile spasm, with or without h>Vsarrythmia and with multiple calcified lesions in the cortical and Periventrical regions of the brain. Both children fulfilled criteria for definite TSC. Their social, communicational and language deficit were very specific and different then from other children with mental retardation (D SM-I1I-R). In the paper, we discuss about the importance to recognize autism within mental retardation and than to plan specific therapeutic program and also to find some genetically defined cause, as TSC is. This home page is intended to be a family resource for families affected by Tuberous Sclerosis. It does not intend to constitute medical advise. Viewers are warned not to take any action with regard to medical treatment relying on the information provided on this page without first consulting the patient's physician.
Deanna Runyan-Wall E-mail address: deannadawn@lukets.org Last updated: April 5, 2008 Created: December 5, 1996 |
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