Identifying dementia in Down syndrome with the Severe Impairment Battery, Brief Praxis Test and Dementia Scale for People with Learning Disabilities.

BACKGROUND: Individuals with Down syndrome (DS) are at high risk for dementia, specifically Alzheimer's disease. However, many measures regularly used for the detection of dementia in the general population are not suitable for individuals with DS due in part to floor effects. Some measures, including the Severe Impairment Battery (SIB), Brief Praxis Test (BPT) and Dementia Scale for People with Learning Disabilities (DLD), have been used in clinical trials and other research with this population. Validity research is limited, particularly regarding the use of such tools for detection of prodromal dementia in the DS population. The current project presents baseline cross-sectional SIB, BPT and DLD performance in order to characterise their predictive utility in discriminating normal cognition, possible dementia and probable dementia in adult DS. METHOD: Baseline SIB, BPT and DLD performances from 100 individuals (no dementia = 68, possible dementia = 16 & probable dementia = 16) were examined from a longitudinal cohort of aging individuals with DS. Receiver operating characteristic curves investigated the accuracy of these measures in relation to consensus dementia diagnoses, diagnoses which demonstrated high percent agreement with the examining neurologist's independent diagnostic impression. RESULTS: The SIB and BPT exhibited fair discrimination ability for differentiating no/possible versus probable dementia [area under the curve (AUC) = 0.61 and 0.66, respectively]. The DLD exhibited good discrimination ability for differentiating no versus possible/probable dementia (AUC = 0.75) and further demonstrated better performance of the DLD Cognitive subscale compared with the DLD Social subscale (AUC = 0.77 and 0.67, respectively). CONCLUSIONS: Results suggest that the SIB, BPT and DLD are able to reasonably discriminate consensus dementia diagnoses in individuals with DS, supporting their continued use in the clinical assessment of dementia in DS. The general performance of these measures suggests that further work in the area of test development is needed to improve on the AUCs for dementia status discrimination in this unique population. At present, however, the current findings suggest that the DLD may be the best option for reliable identification of prodromal dementia in this population, reinforcing the importance of including informant behaviour ratings in assessment of cognition for adults with DS.

Avaliação do efeito da afiação utilizando três tipos de pedras com e sem lubrificante sobre a superfície radicular após instrumentação - Parte II / Assesment of the effect of sharpen with three kinds of sharpen stones using or not lubricant over root surface _ Part II

O objetivo deste estudo foi avaliar ao Microscópio Eletrônico de Varredura e Rugosímetro o efeito da afiação, utilizando três pedras de afiar com e sem lubrificante, sobre a superfície radicular instrumentada. Foram selecionadas 24 curetas Gracey 5/6 e 48 segmentos radiculares. As curetas e raízes foram distribuídas em 8 grupos. Superfície radicular instrumentada com curetas: novas, sem corte, reafiadas com pedras de Arkansas. Óxido de alumínio e Carborundum, com e sem lubrificante. Uma vez as curetas reafiadas, efetuou-se a instrumentção radicular utilizando o Aparelho Padronizador e Raspagem desenhado para estes estudo. As áreas raspadas foram analisadas no Rugosímetro e MEV onde foram realizadas fotomicrografias que foram avaliadas por 3 examinadores de acordo ao Índice Modificado de Irregularidade Superficial. A análise estatística mostrou que não houve diferença significante entre os grupos ao MEV. Já no rugosssímetro as pedras de Arkansas, com e sem lubrificante, tiveram a menor média de rugosidade, as pedras de Óxido de Alumínio, com e sem lubrificante, a maior média de rugosidade e as pedras de Carborundum, com e sem lubrificante, uma posição intermediária. Conforme os resultados, conclui-se que o fator lubrificante não exerceu influência significante sobre a superície radicular, sendo o fator tipo de pedra o que determinou principalmente os resultados

Avaliação do efeito da afiação, utilizando três tipos de pedras, com e sem lubrificante, sobre o ângulo de corte de curetas - Parte I / Assesment the effect of sharpen with three kinds of sharpen stones using or not lubricant over curet's cutting edges - Part I

O objetivo deste estudo foi avaliar, ao Microscópio Eletrônico de Varredura (MEV), o efeito da afiação, com e sem lubrificante, utilizando três tipos de pedra sobre o ângulo de corte de curetas. Vente e quatro curetas 5/6 novas (Neumar) foram distribuídas em 8 grupos: novas, sem corte, reafiadas com pedras de Arkansas, Óxido de Alumínio e Carborundum, com e sem lubrificante. Posteriormente, as lâminas das curetas foram separadas das hastes, fotografadas ao MEV (500X) e avaliadas por 3 examinadores calibrados, designando-se valores de acordo com o Índice Modificado do Ângulo de Corte. Conforme os resultados e a análise estatística, concluiu-se: Em termos de lisura e integridade do ângulo de corte, não houve influência significante do lubrificante, e sim do tipo de pedra utilizada; as pedras de Arkansas, com e sem lubrificante, mostraram os melhores resultados; as pedras de Óxido de Alumínio os piores e as pedras de Carborundum com e sem lubrificante uma posição intermediária entre as duas anteriores

Fetal nutrition and peripheral nerve conduction velocity.

Fetal nutrition as assessed by skin-fold thickness was correlated with nerve conduction in 27 babies of 39 to 41 weeks' gestation. There was correlation between skin-fold thickness and conduction velocity, suggesting that fetal nutrition may alter peripheral nerve function by influencing myelination.

Review of 38 cases of subacute sclerosing panencephalitis: effect of amantadine on the natural course of the disease.

Thirty-eight cases of subacute sclerosing panencephalitis (SSPE) were reviewed. Deterioration in school performance, personality changes, and seizures were common early symptoms. Initial examination frequently showed myoclonus, spasticity, and extrapyramidal dysfunction, and in two-thirds of patients these findings were asymmetrical or focal. Retinitis or papilledema was present on initial examination in 50% of the patients. At last follow-up 24 children had died, with a mean survival of 42 months. Most patients reached a state of severe neurological impairment within 13 months. Subsequent evidence of improvement was noted in 10 children and was sustained in 4. Fifteen patients received antiviral treatment. Ten treated patients died from 5 to 133 months (mean, 58) from onset of their illness, while 15 untreated patients survived a mean of 33 months. Duration of survival appeared to be affected most by treatment with amantadine. Three patients treated with the drug were alive 97 to 139 months after onset of SSPE, and 5 died with a mean survival of 78 months. Five of 6 individuals treated with rifampin died after a mean survival of 27 months. Prolonged remissions occurred only in patients treated with amantadine. Although the number of treated individuals was small, our data suggest that amantadine may affect the natural course of SSPE.

Familial infantile myasthenia.

Familial infantile myasthenia is a rare type of myasthenia that usually occurs in connection with respiratory depression. The condition is characterized by (1) absence of myasthenia in the mother, (2) occurrence of a similar disorder among siblings, (3) respiratory depression at birth, (4) episodic weakness and apnea during the first two years of life, and (5) improvement with age. Since the condition responds to anticholinesterase medication, early diagnosis is important. Familial infantile myasthenia is a potential cause of sudden infant death and should be considered in infants with unexplained respiratory distress.

Basal ganglia calcification in Kearns-Sayre syndrome.

The Kearns-Sayre syndrome (KSS) appears to be a distinctive disorder characterized by progressive external ophthalmoplegia, pigmentary degeneration of the retina, heart block, and elevated CSF protein levels. Recent reports have suggested that abnormalities of muscle mitochondria may also be a consistent finding in KSS. We recently examined a patient with KSS whose skeletal muscle contained abnormal mitochondria. In addition, a computerized tomographic scan of the head showed cerebellar and brain stem atrophy, as well as calcification in the region of the basal ganglia.

Eating epilepsy associated with a deep forebrain glioma.

Seizures associated with deglutition are rare, and previously reported cases of so-called eating epilepsy have not identified specific electrophysiological or anatomical foci. We evaluated a 14-year-old with a deep hemispheric astrocytoma in whom focal seizures were consistently triggered by eating. Electroencephalograms were consistent with a deeply located seizure focus. Eating epilepsy should be grouped with reflex epilepsies that may originate with the diencephalon.

Familial Kearns-Sayre syndrome.

The Kearns-Sayre syndrome (KSS) is a distinctive type of progressive external ophthalmoplegia, characterized by pigmentary degeneration of the retina, heart block, elevated concentration of cerebrospinal fluid protein, and abnormal muscle mitochondria. Previously described cases have all been sporadic. Consequently, viral infections and autoimmune disorders have been proposed as etiologies. The occurrence of KSS in two brothers suggests that genetic factors may play a role in the pathogenesis of some cases.

Abnormal copper metabolism in Menke's steely-hair syndrome.

Copper (Cu) metabolism was selectively studied in seven infants with Menke's steely-hair syndrome (SHS). A daily oral regimen of CuSO4 (584 microgram Cu/kg) and L-histidine (100 mg/kg) in three infants produced an increase in serum Cu concentrations ranging from 33-95% of normal, but without the formation of ceruloplasmin. Cohn serum protein fractionation after oral Cu/L-histidine loading showed a disproportionate accumulation of Cu in the albumin fraction (V). The electron spin resonance spectrum of fraction V showed a heightened signal for the SHS patients, suggesting that an increased concentration of a radical Cu species is present after oral loading. The Sephadex G-150 chromatographic profile of serum fraction V in SHS did not differ significantly from controls. These results suggest that, in SHS, Cu absorbed in the presence of L-histidine is in an abnormal complex involving albumin, which does not allow for holoceruloplasmin biosynthesis. Cu and ceruloplasmin concentrations in the cord blood specimen of an infant who went on to develop SHS were normal, a finding which may account for the transient period of seemingly normal development after birth in SHS patients. An almost 6-fold difference in mean Cu concentration was observed in SHS fibroblasts compared to controls. Fibroblast Cu concentration was elevated in one to two possible maternal heterozygotes, a finding which may permit diagnosis of the carrier state for some SHS heterozygotes.

Upper trunk brachial plexopathy in football players.

Ten football players seen from 1973 through 1977 at the University of Wisconsin Hospitals were found to have clinical and electrodiagnostic evidence of injury to the upper trunk of the brachial plexus. Each had upper limb paresis following one or more blows to the head or shoulders. The development of persistent weakness often was preceded by burning paresthesias in the upper limb. Our experience suggests that the syndrome of burning paresthesias and subsequent arm weakness frequently is secondary to stretching of the brachial plexus.

Benign subdural collections of infancy.

During the past two years we studied six infants with subdural collections of fluid. All patients had macrocrania and excessive transillumination of the head. Rapid head growth was common but five patients were otherwise asymptomatic. Subdural taps performed on five children confirmed the presence of abnormal fluid over the cerebral convexities. Subdural fluid in four patients was compatible with effusion and in another with a hematoma. Computerized tomographic evaluation of all infants showed ventricular enlargement, wide cerebral sulci, decreased density in the anterior temporal regions, large sylvian cisterns, prominent interhemispheric fissures, and decreased density over the cerebral convexities. The CT findings resembled cerebral atrophy but psychomotor development and neurologic examinations have been norma.

Spontaneous spinal epidural hematoma in the young.

There have been few descriptions of spontaneous epidural hematoma of the spinal cord in children. Duration of symptoms in previous cases has varied from hours to days. We recently evaluated a 6-year-old girl with cord compression from an extradural clot, who complained of thoracic back pain for 3 months before becoming paraplegic. Our experience suggests that spontaneous epidural bleeding may be responsible for episodic back pain and cord compression in children.

Congenital ocular motor apraxia. A possible disconnection syndrome.

In 1952, Cogan introduced the term "congenital ocular motor apraxia" (COA) to describe an abnormality of eye movements characterized by absent or defective voluntary horizontal gaze. Since his original description, there have been few subsequent reports of this disorder. A ten-year review of clinical records from the University of Wisconsin Hospitals disclosed eight patients with COA. In two patients subjected to neuroradiologic testing, agenesis of the corpus callosum was detected. Voluntary horizontal gaze appears to be a learned phenomenon, and defective interhemispheric transfer of visual information may be important in the pathogenesis of COA.

Morphometric study of motoneurons in congenital nemaline myopathy and Werdnig-Hoffmann disease.

To test whether congenital nemaline myopathy (NM) might have a neurogenic basis, we evaluated the number and frequency distribution of L5 motoneuron cell bodies and their myelinated ventral root (VSR) axons in a typical case. Results were compared to those from three age-matched controls and those from a child with Werdnig-Hoffmann disease (WHD). Diameter histograms of cell bodies of L5 motoneurons from controls contained three peaks which were identified as large, intermediate, and small cytons (LC, IC, and SC). In previous work from our laboratory, the numbers of LC and IC of the L5 segment was found to correspond closely enough to the numbers of LA and IA (large and intermediate diameter myelinated axons) of L5 ventral spinal root to indicate that the majority of LC are alpha and the majority of IC are gamma motoneurons. The number of LC of L5 reference cords varied from 3508 to 4916, and of IC from 967 to 2204. The diameter histogram of cytons from the NM case differed from controls; the LC and IC peaks were displaced to smaller diameter categories, but their number was normal (4520 and 2023, respectively). In WHD, the numbers of LC and IC were 211 and 946, respectively. Axons were similarly affected. The severe decrease from normal in the number of large motoneurons in WHD, and the reduction in size without loss of motoneurons in NM, indicates a different morphologic basis for NM and WHD. In NM the reduction in size without decrease in number of motoneurons is probably secondary to congenital myopathy and does not provide evidence for a neurogenic etiology.

External hydrocephalus. Early finding in congenital communicating hydrocephalus.

Dilation of the subarachnoid channels overlying the cerebral hemispheres, ie, external hydrocephalus, can be an early anatomic-radiologic finding in some infants with congenital communicating hydrocephalus. This structural change may progress to ventricular dilation or internal hydrocephalus. Enlargement of the subarachnoid channels appears to occur during the first stage in the development of congenital communicating hydrocephalus, which is to say that the subarachnoid compartment allows accumulation of CSF before there is significant ventricular distention, at least in some infants. When a pneumoencephalogram or a CT scan is performed at this stage, the findings may falsely suggest "cerebral atrophy." In six patients who received this grave neuroradiologic diagnosis, five subsequently developed normally and the sixth has static incoordination or clumsiness and mild intellectual deficiency.

Electrodiagnostic findings in acute porphyric neuropathy.

Of 115 patients with acute intermittent porphyria seen during a 20-year period, 11 had experienced an acute episode of quadriparesis. Nerve conduction studies performed on 8 of these 11 patients showed low-amplitude compound action potentials and normal velocity measurements. Needle electromyography demonstrated prominent fibrillation potentials, especially in proximal muscles. The changes in these findings with time confirm that this disorder is an acute axonal neuropathy.

Ophthalmoplegic migraine in infancy.

Isolated oculomotor nerve palsy is an unusual finding in the pediatric patient. Third nerve weakness is a rare complication of vascular headaches, and there are few reported cases of so-called ophthalmoplegic migraine (OM) in young children. Recently we have seen a 12-month-old girl with OM that appeared to respond to treatment with propranolol.