bluuebunny/crossref_metadata_2025_split huggingface dataset:
SWALLOW FUNCTION IN CHILDREN WITH DOWN SYNDROME: A RETROSPECTIVE STUDY
Authors: Frazier Jackie Bolders , Friedman Barbara 
Published: July 2010

SUMMARYThe swallow behavior of 19 children with Down syndrome was reviewed. Findings suggest their oral phase may be impacted by oral hypersensitivity which can interfere with their acceptance of textured foods. A disordered pharyngeal phase was identified in 16 of the children, with aspiration occurring in 10 of the 19 children studied. Aspiration identified was silent for eight of these 10 children with cough data, and did not correlate with the severity of their oral phase. Aspiration was, therefore, felt to warrant consideration as a factor in the respiratory illness so often seen in this population.RÉSUMÉFunction de déglutition dans le syndrome de Down: une étude rétrospectiveLe comportement de déglutition dc 19 enfants avec syndrome de Down a été noté. Les données suggèrent que le temps oral peut àtre altéré par une hypersensibilité orale qui peut interférer avec ľacceptation de nourriture solide. Un temps pharyngien altéré fut identifié chez 16 des enfants, avec une aspiration survenant chez 10 des 19 enfants étudiés. Ľaspiration identifiée était silencieuse chez huit des 10 enfants avec données de toux, et n'était pas corréléc avee la gravité de ľaltération du temps oral. Ľaspiration a été de ce fait ressentie comme un facteur de ľaffection respiratoire si fréquemment rencontrée dans cette population.ZUSAMMENFASSUNGSchhtckfunktion bei Kindern mit Down Syndrom: eine retrospektive StudieDas Schluckverhalten von 19 Kindern mit Down Syndrom wurde untersucht. Die Befunde lassen vermuten, daß die orale Phase durch eine orale Hypersensitivität beeinträchtigt ist und dadurch die Akkzcptanz von fester Nahrung beeinflußt wtrd. Bei 16 Kindern wurde eine gestörte Pharynx‐Phase festgestellt und 10 dcr 19 untersuchtcn Kinder hattcn aspiriert. Acht dcr 10 Kinder mit Husten hatten eine latente Aspiration, die nicht mil dem Schweregrad der oralen Phase korrelicrte. Aspiration sollte daher als ein Faktor für die respiratorischen Erkrankungen angesehen werden. die bei diesen Patinten so häufig auftreten.RESUMENLa degtución en niños con síndrome de Down: e.Uttdio retrospectivoSe revisó el comportamiento deglutorio de 19 niños con síndrome de Down. Los hallazgos sugieren que su fase oral puede scr impactada por una hipcrsensibilidad oral, que puede intcrferir sobre su aceptación de alimentos con textura. En 16 niños se identificó una fase faíngea alterada, con aspiracion, que tuvo lugar en 10 de los 19 niños estudiados. La aspiración idemificada era silenciosa en ocho de 10 de los niños, y no se correlacionaba con la gravedad de la fase oral. Por lo tanto se pensó que la aspiración merecía ser tenida en cuenta como factor en la enfermedad respiratoria tan frecuente en esta población.
Co‐dominant Inheritance of Hyperekplexia and Spastic Paraparesis
Authors: Baxter P. , Connolly S. , Curtis A. , Spencer V. , Ravindranath C. , Burn J. , Gardner‐Medwin D. 
Published: July 2010

SUMMARYIn four generations of a family with autosomal dominant hyperekplexia (startle disease), untreated affected adult members had pes cavus and extensor plantar responses, as well as hyper‐reflexia. Electroencephalography during a startle, electromyography, nerve conduction velocities and somatosensory evoked potentials were normal. Genetic studies showed linkage to the CSFIR locus on chromosome 5q33‐q35, which includes the glycine receptor. This either represents a variant of hyperekplexia with spasticity or suggests that genes for hyperekplexia and a form of hereditary spastic paraparesis may be closely linked.RÉSUMÉHérédite co‐dominante de ľhyperekplexie et ďwie paraparésie spastiqueDans quatre générations ďune famille avec hyperekplexie autosomaledominante (maladie du sursaut), les membres adultes affectés et non traités présentaient un pied cavus, un signe de Babinski et une hyperréflexie tendineuse Ľélectroencéphalographie au cours du sursaut, ľélectromyographie, les vitesses de conduction nerveuse et les potentiels évoques somatosensories étaicnt normaux. Les études génétiques montrèrent un lien avec le locus CSFIR sur le chromosome 5q33‐q35, incluant un récepteur glycine. II pouvait s'agir ďune forme clinique ďhyperekplexie avec spasticité, mais il est possible que les gènes de ľhyperekplexie et ceux ďune forme de paraparésie spastique soient étroitement liés.ZUSAMMENFASSUNGCo‐dominante Vererbung von Hyperekplexie mid spastischer ParapareseIn vier Generationen einer Familie mit autosomal dominanter Hyperekplexie (Startle Disease) hatten die unbehandelten betroffenen Erwachsenen einen Hohlfu‐, Spitzfustellung und Hyperreflexie. Das Elcktrocnzephalogramm während eines Startle‐Anfalls, das Elektromyogramm, die Nervenleitgeschwindigkcit und die somatosensorisch evozierten Potcntiale waren normal. Genetische Studien zeigten eine Verbindung zum CSFIR Locus auf dem Chromosom 5q33‐q35, das den Glycin Rezeptor enthält. Dies stellt entweder eine Variante der Hyperekplexie mit Spastik dar oder lat vermuten, da‐ die Gene für Hyperekplexie und eine Form der heriditären spastischen Paraparese möglicherweise eng miteinander verknüpft sind.RESUMENHerencia co‐daminante de la hiperekpiexia y paraparesia espásticaEn cuatro generaciones de una familia con hiperekpiexia dominante autosómica (enfermedad del sobresalto) los miembros adultos afectados no tratados tenían pies cavos y respuestas plantares en extensión, así como hiper‐reflexia. La EEG durant el sobresalto, la EMG y la velocidad de conducción nerviosa y los potenciales evocados somato‐sensoriales eran normales. Los estudios genéticos mostraron un linkage en el locus CSF1R en el cromosoma 5q33‐q35, que incluye el receptor glicina. Esto o bien representa una variante de la hiperekplcxia con espasticidad o sugiere que los genes de la hiperekpiexia y una forma de paraparesia espástica hereditaria pueden estar intimamente linkados.
Cerebellar Hypoplasia in a Patient with Velo‐Cardio‐Facial Syndrome
Authors: Devriendt Koenraad , Thienen Marie‐Noëlle Van , Swillen Ann , Fryns Jean‐Pierre 
Published: July 2010

SUMMARYCerebellar malformations feature a large number of syndromes of unknown etiology. A child with hypoplasia of the vermis and left cerebellar hemisphere, severe mental retardation and facial dysmorphism was initially diagnosed as suffering from 3C (Ritscher‐Schinzel) syndrome. A deletion in chromosome 22ql 1 was subsequently demonstrated, establishing the diagnosis of velo‐cardio‐facial (Shprintzen) syndrome. This observation confirms the previous finding of cerebellar anomalies in Shprintzen syndrome, and suggests an overlap between the VCFS and 3C syndrome. Other signs of VCFS should be looked for in children with cerebellar malformation.RÉSUMÉHypoplasie cérébelleuse chez un patient présentant un syndrome vélo‐cardio‐facialLes malformations cérébelleuses simulent une grande variété de syndromes d'étiologie inconnue. Un diagnostic de syndrome 3C (Ritscher‐Schinzel) fut primitivement porté chez un enfant avec hypoplasie du vermis et de 1'hémisphere cérébelleux gauche, retard mental sévère et dysmorphisme facial. Une délétion chromosomique 22ql 1 fut découverte ulterieurement, conduisant au diagnostic de syndrome vélo‐cardio‐facial de Shprintzen (VCFS). Cette observation confirme les découvertes antérieures d'anomalies cérébelleuses dans le syndrome de Shprintzen et suggèrent une superposition entre les syndromes VCFS et 3C. D'autres signes du VCFS devraient être recherches chez les enfants présentant une malformation cérébelleuse.ZUSAMMENFASSUNGCerebelläre Hypoplasie bei einem Patienten mit dent Velo‐cardio‐facialen SyndromCerebelläre Mißbildungen gibt es bei einer groBcn Anzahl von Syndromen unbekannter étiologie. Bei einem Kind mit Hypoplasie des Vermix und der linken Kleinhirnhemisphäre, schwerer geistiger Retardierung und Gesichtsdysmorphie wurde zunächst ein 3C (Ritscher‐Schinzel) Syndrom diagnostiziert. Danach wurde eine Deletion am Chromosom 22ql I nachgewiesen, was die Diagnose eines Velo‐cardio‐facialen (Shprintzen) Syndroms sicherte. Diese Beobachtung bestätigt frühere Befunde von cerebellären Mißbildungen beim Shprintzen Syndrom und läsZt ein öberlappen von VCFS und 3C Syndrom vermuten. Bei Kindern mit cerebellären Mißbildungen sollte nach anderen Zeichen des VCFS gesucht werden.RESUMENHipoplasia cerebelosa en un paciente con stndrome Velo‐cardio‐facialLas malformaciones cerebelosas constituyen un gran número de síndromes de etiologia desconocida. Un niño con hipoplasia de vermis y del hemisferio cerebeloso izquierdo, grave retraso mental y dismorfismo facial fué diagnosticado inicialmente como un caso de síndrome de 3C (Ritscher‐Schinzel). Más tarde se demostró una delección en el cromosoma 22q11, estableciendose el diagnóstico de síndrome velo‐cardio‐facial (Shprintzen). Esta observación confirma los hallazgos previos de anomalías cerebelosas en el síndrome de Shprintzen, y sugiere una solapación entre en síndrome VCF y el síndrome 3C. Deberan mostrarse otros signos del síndrome de VCF en niños con maiformación cerebelosa.
KINAESTHETIC ACUITY AND FINE MOTOR SKILLS IN CHILDREN WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER: A PRELIMINARY REPORT
Authors: Whitmorit Stephanie , Clark Charmian 
Published: July 2010

SUMMARYTwo groups of 9‐year‐old children (24 children with attention deficit hyperactivity disorder j, [ADHD] and 24 controls) were assessed for (anaesthetic acuity and fine motor skills with medication withdrawn. Results showed significantly poorer performance on both tasks for children with ADHD, but only a weak association between fine motor and kinaesthetic performance. The implications are discussed, particulary the role of attention to proprioceptive signals in children with the diagnosis of ADHD.RÉSUMÉL'acuité kinesthésique et I'habileté motrice fine chez les enfants avec tin trouble de déficit d'attention et d'hyperactivite: rapport préliminaireL'acuité kinesthésique et les habiletés motrices fines ont étéévaluées chez deux groupes d'enfants de 9 ans après arrêt de toute médication (24 enfants avec un trouble de déficit d'attention et d'hyperactivité [ADHD] et 24 contrôles). Les résultats démontrèrent des performances significtivité moins bonnes aux deux tâches chez les enfants ADHD, mais avec seulement une faible corrélation entre les performances d'habileté motrice et celles d'acuité kinesthésique. Les implications sont discutées, particulièrement le rôle de l'attcntion sur les signaux kinesthésiques chez les enfants avec diagnostic d'ADHD.ZUSAMMENFASSUNGKinaestetische Genauigkeit tindfeinmotorische Fähigkeiten bei Kindern. mil Aufmerksamkeitsstörungen mid Hyperaktivität: ein vorläufiger BerichtEs wurden zwei Gruppen von neunjährigen Kindern (24 Kinder mit Aufmerksamkeitsstörungen und Hyperaktivität [ADHD] und 24 Kontrollen) nach Absetzen der Medikamente auf kinaesthetische Genauigkeit und feinmotorische Fäigkeiten untesucht. In beiden Aufgabenbereichen zeigten die Kinder mit ADHD signifikant schlechtere Leistungen, es fand sich aber nur eine schwache Beziehung zwischen der feinmotorischen und der kinaesthetischen Leistung. Die daraus gewonnenen Erkenntnisse werden diskutiert, insbesondere die Rolle der Aufmerksamkeit für propriozeptive Signale bei Kindern mit der Diagnose ADHD.RESUMENAgudeza cinestésica y habilidades motoras finas en ninos con déficit de attendón e hiperactividad: comunicación preliminarDos grupos de 9 años de edad (24 niños con déficit de atención e hiperactividad [DAH, ADHD en inglés] y 24 controles) fueron evaluados en su agudeza cinestésica y habilidades motoras finas con medicación retirada. Los resultados mostraron una realización más pobre en ambas tareas en niños con DAH, pero sólo una débil asociación entre la motricidad fina y la realizacion cinestésica. Se discuten las implicaciones y especialmente el papel de la atención en las sénales propioceptivas en niños con el diagnóstico de DAH.
AUTISM AND MEDICAL DISORDERS: A REVIEW OF THE LITERATURE
Authors: Gillberg Christopher , Coleman Mary 
Published: July 2010

SUMMARYThe authors reviewed all the population studies on autism published in the English language with particular reference to the rate of medical disorders. Seven studies met criteria for inclusion in the survey. The mean of possibly autism‐related medical disorders in persons with autism across these studies was 24.4%. There was a trend for higher rates of medical disorders among subjects with severe mental retardation. The evidence in respect of atypical autism was equivocal, and the overall prevalence of medical disorders in this group was similar to that found in typical autism.RÉSUMÉAutisme ei troubles médicaux dans une revue de la littérature conceméeLes auteurs ont fait une revue de toutes les études de population sur l' autisme publicées en anglais, tout spécialement sur le taux de troubles médicaux. Sept études rcmplissaient les critères pour etre inclus dans l' étude. La moyenne d' une relation possible autisme‐troubles médicaux chez les autistes était de 24.4% dans ces études. II y avait une tendance à des taux plus éleves chez les sujets avec arriération menfalc. La relation avec un autisme atypique était douteuse et la prévalence globale de troubles médicaux dans ce dernier groupe était egale à cclle trouvée dans l' autisme typique.ZUSAMMENFASSUNGAutismus und klhiische Erkrankungen: LiteraturiiberblickDie Autoren gcben einen überblick über cnglischsprachigcn Autismusstudien mit besonderer Berücksichtigung der Häufigkeit von klinischen Erkrankungen. Sieben Studien crfülltcn die Kriterien, um in den überblick einbezogen zu werden. Die mittlere Rate der möglicherweise mit dem Autismus zusammenhängenden klinischen Erkrankungen bei Patienten mit Autismus betrug in diesen Studien 24.4%. Bei Patienten mit schwerer geistiger Retardierung fand sich eine höhere Rate klinischer Erkrankungen. In Bezug auf den atypischen Autismus warcn die Befunde nicht eindeutig und die allgemeine Häufigkeit von klinischen Erkrankungen in dieser Gruppe war ahnlich wie beim typischen Autismus.RESUMEN Autismo v alteraciones médicas: revisión de la literatura pertinenteLos autores revisan todos los estudios de población sobre autismo publicados en inglés con preferencia particular a las alteraciones médicas. Siete estudios ofrecieron criterios para la inclusion en el estudio. El promedio de posibilidad dc la relación autismo‐alteraciones médicas relacionadas en estos estudios fué del 24,4%. Se obscrvó una tendencia de porcentajes mayores de alteraciones médicas en individuos con rctraso mental grave. La evidencia con respecto al autismo atípico fue equivoco y la prevalcncia en conjunto de alteraciones médicas en este grupo fué similar al del autismo lípico.
Selective dorsal rhizotomy: efficacy and safety in an investigator‐masked randomized clinical trial
Authors: McLaughlin John F , Bjornson Kristie F , Astley Susan J , Graubert Catherine , Hays Ross M , Roberts Theodore S , Price Robert , Temkin Nancy 
Published: July 2010

The objective of this single‐center investigator‐masked randomized clinical trial was to investigate the efficacy and safety of selective dorsal rhizotomy (SDR) in children with spastic diplegia. Forty‐three children with spastic diplegia were randomly assigned on an intention‐to‐treat basis to receive SDR plus physical therapy (PT), or PT alone. Thirty‐eight children completed follow‐up through 24 months. Twenty‐one children received SDR (SDR+PT group) and 17 received PT (PT Only group). SDR was guided with electrophysiological monitoring and performed by one experienced neurosurgeon. All subjects received equivalent PT. Spasticity was quantified with an electromechanical torque measurement device (spasticity measurement system [SMS]). The Gross Motor Function Measure (GMFM) was used to document changes in functional mobility. Primary outcome measures were collected at baseline, 6, 12, and 24 months by evaluators masked to treatment.At 24 months, the SDR+PT group exceeded the PT Only group in mean reduction of spasticity by SMS measurement (‐8.2 versus +5.1 newton meters/radian, P=0.02). The SDR+PT group and the PT Only group demonstrated similar improvements in independent mobility on the GMFM (7.0 versus 7.2 total percent score, P=0.94). Outcomes on secondary variables were consistent with primary outcomes. There were no serious adverse events. We conclude that SDR is safe and reduces spasticity‐in children with spastic diplegia. SDR plus PT and equivalent PT without SDR result in equal improvements in independent mobility at 24 months. SDR may not be an efficacious treatment for children with mild spastic diplegia.
MM:3 The children with special health care needs podcast series
Authors: CARBONE P 
Published: July 2010

The Children with Special Health Care Needs (CSHCN) Podcast Series utilizes a new medium (the podcast) to present current and state‐of‐the‐art clinical reviews to pediatric residents and pediatricians who care for children with disabilities. The podcast represents an innovative method of presenting teaching materials. Audio content can be downloaded to portable media players on demand, and later listened to at the user's convenience. Podcasting is spreading quickly because of the rapid adoption of MP3 players, increasing familiarity with electronic transfer of information, and the desire of learners to have fresh content. The CSHCN Podcast Series is a set of interview‐style lectures that are posted on ‘Podcasting from the U’ (http://www.utah.edu/podcast), a website recently developed by the University of Utah for public access of audio‐based educational content. Each podcast addresses an issue relevant to the care of medically complex pediatric patients. The first podcast in the series is an interview with Sarah Winter, MD on the recent American Academy of Pediatrics (AAP) Policy Statement on developmental surveillance and screening. The second podcast in the series is an interview with John Carey, MD on a recent AAP Clinical Report on the genetic evaluation of the child with mental retardation or developmental delay. All podcasts in the series can be downloaded free of charge and serve to improve dissemination of new and important information to pediatricians and trainees. We are in the process of incorporating these podcasts into the pediatric residency curriculum and evaluating their effectiveness as teaching tools.Acknowledgements:This work is posted on the Podcasting from the U website, maintained by the University of Utah Department of Marketing and Communication. Jason Smith, coordinator of the Podcasting from the U website, assists in editing.
Neurodevelopmental disorders in children with severe to profound sensorineural hearing loss: a clinical study
Authors: CHILOSI ANNA M , COMPARINI ALESSANDRO , SCUSA MARIA F , BERRETTINI STEFANO , FORLI FRANCESCA , BATTINI ROBERTA , CIPRIANI PAOLA , CIONI GIOVANNI 
Published: July 2010

Aim  The effects of sensorineural hearing loss (SNHL) are often complicated by additional disabilities, but the epidemiology of associated disorders is not clearly defined. The aim of this study was to evaluate the frequency and type of additional neurodevelopmental disabilities in a sample of children with SNHL and to investigate the relation between these additional disabilities and the aetiology of deafness.Method  One hundred children with severe/profound SNHL (60 males, 40 females; mean age 5y 7mo, SD 3y 6mo, range 8mo–16y) were investigated using a diagnostic protocol including neurodevelopmental, genetic, neurometabolic, and brain magnetic resonance imaging (MRI) assessment.Results  Forty‐eight per cent of the sample exhibited one or more additional disabilities, with cognitive, behavioural–emotional, and motor disorders being the most frequent. The risk of additional disabilities varied according to the type of aetiology. Thirty‐seven out of 80 individuals with available MRIs showed signal abnormalities, in particular brain malformations (46%) and white matter abnormalities (54%). Frequency and type of disability were associated with aetiology (p=0.015) and MRI data (p<0.001).Interpretation  A multidimensional evaluation, including aetiological, neurodevelopmental, and MRI investigation, is needed for planning therapeutic intervention, such as cochlear implantation in children with severe to profound hearing impairment. The aetiology of deafness is a relevant risk indicator for the presence of an associated disorder.
The emotional startle effect is disrupted by a concurrent working memory task
Authors: King Rosemary , Schaefer Alexandre 
Published: July 2010

AbstractWorking memory (WM) processes are often thought to play an important role in the cognitive regulation of negative emotions. However, little is known about how they influence emotional processing. We report two experiments that tested whether a concurrent working memory task could modulate the emotional startle eyeblink effect, a well‐known index of emotional processing. In both experiments, emotionally negative and neutral pictures were viewed in two conditions: a “cognitive load” (CL) condition, in which participants had to actively maintain information in working memory (WM) while viewing the pictures, and a control “no load” (NL) condition. Picture‐viewing instructions were identical across CL and NL. In both experiments, results showed a significant reduction of the emotional modulation of the startle eyeblink reflex in the CL condition compared to the NL condition. These findings suggest that a concurrent WM task disrupts emotional processing even when participants are directing visual focus on emotionally relevant information.
Postauricular and superior auricular reflex modulation during emotional pictures and sounds
Authors: Benning Stephen D. 
Published: July 2010

AbstractThe postauricular reflex is a relatively new psychophysiological measure of appetitive emotional processing during picture viewing. However, the degree to which other auricular (i.e., superior and anterior auricular) muscles might exhibit reflexive activity congruent with that found in the postauricular muscle has not been investigated, nor has the robustness of postauricular reflex modulation across stimulus modality. In this study, postauricular reflexes were the only reflexes that showed consistent emotional modulation across ears and genders. Additionally, postauricular reflexes were significantly modulated for both emotional pictures and sounds; in both cases, postauricular reflexes were greatest during pleasant stimuli.
All‐trans retinoic acid for treatment of chronic hepatitis C
Authors: Böcher Wulf O. , Wallasch Christian , Höhler Thomas , Galle Peter R. 
Published: July 2010

AbstractBackground/Aims: In vitro studies in the subgenomic hepatitis C virus (HCV) replicon system have identified all‐trans retinoic acid (ATRA) as a potential therapeutic against hepatitis C. Thus, the antiviral potential of this drug should be assessed in vivo.Methods: Twenty highly treatment experienced serotype 1 patients with non‐response to conventional or pegylated interferon‐α (Peg‐/IFN‐α) and ribavirin were randomly assigned to 12 weeks of monotherapy with ATRA (group A) or a combination of ATRA and PegIFN‐α2a (group B). HCV RNA was assessed by bDNA assay and if negative by highly sensitive polymerase chain reaction.Results: During treatment, five of 10 patients in group A had a drop of viraemia >1log, while in group B after 8 weeks five of 10 dropped >2log, and three of 10 cleared HCV RNA from serum. Viraemia relapsed after treatment cessation. ATRA was rather well tolerated, with transient headache, dry skin and mucosa representing the most common side effects.Conclusions: The viral load reduction under ATRA monotherapy, although limited and transient, supports the antiviral activity of ATRA. However, the rapid loss of HCV RNA in three of 10 previous non‐responders under ATRA and PegIFN‐α2a treatment demonstrates a strong additive or synergistic ATRA effect and calls for a controlled trial to assess the therapeutic potential of this drug.