Preface to the Fifth Edition

Swaiman, Kenneth F.; Ashwal, Stephen; Ferriero, Donna M.; Schor, Nina F.

doi:10.1016/b978-1-4377-0435-8.00116-5

Cited by 26 publications

(50 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Все вышепе-речисленные состояния требуют: 1) динамического наблюдения; 2) комплексного осмотра различными специалистами (генетиком, психологом, логопедом, дефектологом, психиатром, сурдологом, окулистом и др. ); 3) динамического параклинического обследования с широким спектром анализа (от методов нейровизуа-лизации до генотипирования) [6]. Важным для диагностики является возраст и структу-ра жалоб при первичном осмотре ребенка.…”

Section: клиническая манифестацияunclassified

Modern Aspects of Studying the Cognitive Sphere in Child Development

Маслова¹,

Баранов²,

Намазова-баранова³

et al. 2012

Pediatr. farmakol.

View full text Add to dashboard Cite

Section: клиническая манифестацияunclassified

Modern Aspects of Studying the Cognitive Sphere in Child Development

Маслова¹,

Баранов²,

Намазова-баранова³

et al. 2012

Pediatr. farmakol.

View full text Add to dashboard Cite

“…Peripheral neuropathy seems to be more common as a neurological manifestation of visceral leishmaniasis, as reported by previous studies 6,7 . Neuropathological abnormalities resulting from malnutrition have been observed in severely undernourished children 9 . According to World Health Organization Growth Charts, at first presentation the child was only at risk of under nutrition, as his weight was still within normal range 10 .…”

Section: Referencesmentioning

confidence: 99%

“…Diagnosis of vitamin deficiency was considered primarily on suspicions raised by the dietary history. Tremors have been observed mainly in vitamin B12 and thiamine deficiency 9 . Serological levels of vitamin B12 were normal and no obvious signs of this deficiency were observed in this patient.…”

Section: Referencesmentioning

confidence: 99%

“…deficiency can be associated with signs of peripheral neuropathy and cardiomiopathy 9 . Clinical response to the administration of thiamine is the best confirmatory test 9 .…”

mentioning

confidence: 99%

“…Clinical response to the administration of thiamine is the best confirmatory test 9 . Deficiency of thiamine as a possible cause of neurological symptoms seems unlikely, because typical clinical manifestations were not observed and patient´s symptoms were reverted without vitamin supplementation.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Neurological involvement in visceral leishmaniasis: case report

Diniz

Duani

Freitas

et al. 2010

Rev. Soc. Bras. Med. Trop.

View full text Add to dashboard Cite

Visceral leishmaniasis is a severe and potentially fatal vector-borne disease. The most typical symptoms are fever, hepatosplenomegaly, weight loss, bleeding and bacterial infections. Neurological changes are rarely reported. This paper describes a child who presented with neurological signs as the first symptoms of leishmaniasis; tone was diminished and tremors in the extremities were observed. A diagnosis of visceral leishmaniasis was confirmed by parasite detection in the bone marrow. Symptoms were reversed by specific treatment. The nature of a possible mechanism of neurological involvement in visceral leishmaniasis remains unexplained.

show abstract

Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study

Cutri‐French

Armstrong

Saby

et al. 2020

Annals of Neurology

View full text Add to dashboard Cite

Objective Rett syndrome, CDKL5‐deficiency disorder, FOXG1 disorder, and MECP2 duplication disorder are developmental encephalopathies with shared and distinct features. Although they are historically linked, no direct comparison has been performed. The first head‐to‐head comparison of clinical features in these conditions is presented. Methods Comprehensive clinical information was collected from 793 individuals enrolled in the Rett and Rett‐Related Disorders Natural History Study. Clinical features including clinical severity, regression, and seizures were cross‐sectionally compared between diagnoses to test the hypothesis that these are 4 distinct disorders. Results Distinct patterns of clinical severity, seizure onset age, and regression were present. Individuals with CDKL5‐deficency disorder were the most severely affected and had the youngest age at seizure onset (2 months), whereas children with MECP2 duplication syndrome had the oldest median age at seizure onset (64 months) and lowest severity scores. Rett syndrome and FOGX1 were intermediate in both features. Smaller head circumference correlates with increased severity in all disorders and earlier age at seizure onset in MECP2 duplication syndrome. Developmental regression occurred in all Rett syndrome participants (median = 18 months) but only 23 to 34% of the other disorders. Seizure incidence prior to the baseline visit was highest for CDKL5 deficiency disorder (96.2%) and lowest for Rett syndrome (47.5%). Other clinical features including seizure types and frequency differed among groups. Interpretation Although these developmental encephalopathies share many clinical features, clear differences in severity, regression, and seizures warrant considering them as unique disorders. These results will aid in the development of disease‐specific severity scales, precise therapeutics, and future clinical trials. ANN NEUROL 2020;88:396–406.

show abstract

Preface to the Fifth Edition

Cited by 26 publications

References 0 publications

Modern Aspects of Studying the Cognitive Sphere in Child Development

Modern Aspects of Studying the Cognitive Sphere in Child Development

Neurological involvement in visceral leishmaniasis: case report

Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study

Contact Info

Product

Resources

About