bluuebunny/crossref_metadata_2025 huggingface dataset:
Autism and Hypomelanosis of Ito in Twins
Authors: Zappella Michele
Published: July 2010

A pair of monozvgotic and a pair of dyzygotic twins with autism and hypomelanosis of I t 0 skinabnormalities are described. These observations are further evidence of the frequent association between these two conditions, already demonstrated in the literature, and suggest a possibly higher incidence of single gene associations among cases of autism with known genetic basis.

RÉSUMÉE

Autisme er hypomélanose de Ito chez des jumeaux L'article décrit un autismé associe aus anomalies cutanées d'une hypomelanose de It chez une pairede jumeaus monozygotes et une paire de jumeaux dizygotes. Ces observations confirment la fréquence de I'association entre les deus affections, déjà signalée dans la littérature, et suggérrnt la possibilité d'une incidence plus élevée d'associations de génes uniques parmi les cas d'autismes avec base génétiques connue.

Autismirs irnd Ito S.vndrorn bei Zwillingen Es werden ein monozygotes und ein dizygotes Zwillingspaar mit Autismus und Ito Syndrom beschrieben. Diese Beobachtungen sind ein weiterer Beitrag für die häufige Verbindung dieser beiden Erkrankungen, die aucli schon in der Literatur beschrieben wurde, und lassen eine höhere Inzidenz von Einzelgenassoziationen bei Autisniusfällen mit bekannter genetischer Ursache vermuten.

Aurtistno e hipomelanosis de Ito en geriielos Se presentan un par de gemelos monozigoticos y otro de dizigoticos con autismo e hipomelanosis y anomalias de piel de Ito. Estas observaciones constituyen una mayor evidencia de la frecuencia de asociacion entre estas dos patologias, ya demonstrada en la literatura, y sugiere una incidencia mas elevada de asociacion de genes simples en 10s casos de autismo de base genetica conocida.
DEVELOPMENT OF A CLINICAL ASSESSMENT OF QUALITY OF MOVEMENT FOR UNILATERAL UPPER‐LIMB FUNCTION
Authors: Johnson L. M. , Randall M. J. , Reddihough D. S. , Byrt T. A. , Oke L. E. , Bach T. M.
Published: July 2010

Eleven subjects with cerebral palsy were assessed both with the Melbourne Assessment and by four clinical experts. Comparison of their assessment ratings revealed that the Melbourne Assessment was strongly related to the clinical judgement of the experts. A further 20 subjects were administered the Melbourne Assessment and two occupational therapists scored each subject's performance from videotaped assessments with substantial inter‐rater reliability (0–68); intra‐rater agreement after two weeks was 0–80. The Melbourne Assessment may provide a satisfactory objective measure of the quality of upper‐limb function.

Mise en place d'une évaluation clinique de qualité de mouvement dans la fonclion unilatéral du membre supérieur

Onze IMC ont étéévalués par le Melbourne Assessement et quatre experts cliniques. La confrontation de leurs évaluations a montré que le Melbourne Assessement était fortement relié au jugement clinique des experts. 20 autres sujets furent évalués à partir de bandes vidéo par le Melbourne Assessement et deux ergothérapeutes, avec une bonne fidélité inter‐examinateur (0–68) et un accord intra‐examinateur de 0–80. Le Melbourne Assessement peut fournir une mesure objective de la qualité de la fonction du membre supérieur.

Klinische Beurteilung der Bewegungsqualität bei unilateraler Funktion der oberen Extremitat

11 Patienten mit Cerebralparese wurden anhand der Melbourne Assessment, sowie von vier klinischen Experteh untersucht. Der Vergleich ihrer Beurieilungen zeigte, daß die Ergebnisse der Melbourne Assessment klar mit den Befunden der Experten korrelierten. Weitere 20 Patienten wurden mit der Melbourne Assessment getestet und zwei Beschäftigungsthcrapeuten beurteilten die Leistungen jedes Patienten anhand von Videoaufnahmen mit einer erstaunlichen Inter‐Rater Übereinstimmung (0–68); die Inter‐Rater Übereinstimmung nach zwei Wochen betrug 0–80. Die Melbourne Assessment mag eine zufriedenstellende objektive Methode zur Beurteilung der Bewegungsqualitat der oberen Exiremität sein.

Desarrollo du una evaluación cli'nica de la calidad de movimiento en la extremidad su perior unilateral

Once individuos con parálisis cerebral fueron evaluados por medio de la Evaluación de Melbourne y por cuatro expertos clinicos. La comparación de sus evaluaciones reveló que la Evaluación de Melbourne estaba fuertemente corelacionada con el juicio clinico de los expertos. A otros 20 individuos se les pasó la Evaluación de Melbourne y dos terapeutas ocupacionales puntuaron la realización de cada individuo a partir de cintas de video con una fiabilidad entre los promedios substancial. La coincidencia tras dos semanas era de 0,80. La Evaluación Melbourne puede proporcionar una medición objetiva satisfactoria de la calidad de la función de la extremidad superior.
PHYSIOTHERAPY FOR YOUNG PEOPLE WITH MOVEMENT DISORDERS: FACTORS INFLUENCING COMMENCEMENT AND DURATION
Authors: Ekenberg Lilly , Erikson Anders
Published: July 2010

A questionnaire sent to the parents of 105 patients aged between nine and 20 years with movement disorders was answered by 81 parents. 51 per cent of the patients were undergoing physiotherapy, and these had been having physiotherapy for almost all of their lives. Patients with lower mobility scores and those with both parents participating tended to continue with physiotherapy. Mobility scores were less of a determinant for girls than for boys for continuing or discontinuing physiotherapy. The diagnosis of cerebral palsy combined with an early start to physiotherapy also gave a higher continuation rate.

Kinésithérapie chez des individus présentant des mouvements désordonnés: facteurs influençant le début el la durée de la kinésithérapie

Quatre‐vingt un parents répondirent à un questionnaire adressé aux parents de 105 enfants âgés de neuf à 20 ans et présentant des mouvements désordonnés. 51 des patients bénéficiaient de kinésithérapie et en avaient bénéficié presque toute leur vie. Les patients ayant des scores de mobilité bas et ceux qui avaient deux parents participants avaient tendance à continuer la kinésithérapie. Les scores de mobilitéétaient moins déterminants pour les filles que pour les garçons dans la poursuite ou ľarrêt de la kinésithérapie. Un diagnostic ďIMC/IMOC associéà un début précoce de la kinésithérapie entraînait également un taux plus élevé de continuation.

Physiotherapie für Patienten mil Bewegungsstörungen: Faktoren, die Beginn und Dauer der Physiotherapie beeinflussen

Ein Fragebogen, der an Eltern von 105 Patienten mit Bewegungsstorungen im Alter zwischen neun und 20 Jahren, verschickt worden war, wurde von 81 beantwortet. 51 Prozent der Patienten bekamen Physiotherapie und hatten fast ihr ganzes Leben lang Physiotherapie gemacht. Patienten mit niedrigen Mobilitätsscores und die, bei denen beide Eltern sich beteiligten, machten die Physiotherapie weiter. Mobilitätsscores waren hinsichtlich der Fortführung oder der Aufgabe der Physiotherapie bei Mädchen weniger verläßlich als bei Jungen. Wenn nach der Diagnosestellung einer Cerebralparese gleich eine Physiotherapie eingeleitet wurde, so wurde diese auch bei den meisten weitergeführt.

Fisioterapia para individuos con alteraciones del movimiento. Factores que influencian el inicio y la duratión de la fisioterapia

Un cuestionario enviado a los padres de 105 pacientes de nueve a 20 años de edad con alteraciones de la motilidad, fue contestado por 81 padres. El 51 por ciento de los pacientes seguían una fisioterapia y la habían seguido prácticamente durante toda su vida. Los pacientes con una menor movilidad en las piernas y con los dos progenitores participando en la tarea tendian a continuar con la fisioterapia. El nivel de movilidad era un condicionante menor para las niñas que para los niños, de cara a continuar 0 no con la fisioterapia. El diagnóstico de parálisis cerebral en combinatión con un inicio precoz de la fisioterapia daba un porcentaje mayor de continuidad de la fisioterapia.
Duplication of the 15q11‐13 Region in a Patient with Autism, Epilepsy and Ataxia
Authors: Bundey Sarah , Hardy Carol , Vickers Susan , Kilpatrick M. W. , Corbett J. A.
Published: July 2010

Various developmental abnormalities can give rise to the clinical syndrome of autism, and some are due to chromosomal anomalies. One syndrome has been identified in which behavioural disorder is associated with the clinical features of epilepsy and ataxia, and with the chromosomal anomaly of an extra marker chromosome containing a duplication of 15q11‐13. The authors report a boy with autism, epilepsy, ataxia and an interstitial duplication of 15q, in whom molecular analysis reveals duplication of the GABRA5 and GABRB3 genes on the maternally derived chromosome.

Duplication de la région 15q11‐13 chez un patient présentant un tableau associant autisme, épilepsie et ataxie

Des anomalies développcmentales variées peuvent conduire à un syndrome clinique ďautisme, et quelques unes peuvent être liees à des anomalies chromosomiques. Un syndrome a été identifié avec association ďun trouble comportemental, des caractéristiques cliniques ďune épilepsie et ďune ataxic, ainsi que ďune anomalie chromosomique ďun chromosome marqué contenant une duplication de 15q11 ‐ 13. Les auteurs décrivent le cas ďun garcon présentant un autisme, une épilepsie, une ataxie et une duplication interstitielle de 15q chez qui ľanalyse moléculaire révéla la duplication des gènes GABRA5 et GABRB3 dans un chromosome ďorigine maternelle.

Duplikation von 15q11‐13 bei einetn Patienten mil dem Syndrom Autismus, Epilepsie und Ataxie Verschiedene Entwicklungsstörungen können das klinische Syndrom des Autismus auslösen, einige davon beruhen auf chromosomalen Veränderungen. Es ist ein Syndrom beschrieben worden, bei dem Verhaltensstörungen mit klinischen Befunden der Epilepsie und Ataxie und der Chromosomen‐anomalie eines extra Marker Chromosoms, das eine Duplikation von 15q 11 ‐ 13 enthält, verbunden sind. Die Autoren berichten uber einen Jungen mit Autismus, Epilepsie, Ataxie und einer imerstitiellen Duplikation von 15q, bei dem die Molekularanalyse eine Duplikation von GABRA5 und GABRB3 Genen in dem von der Mutter stammenden Chromosom ergab.

Duplication de la region 15q11‐13 en un paciente con síndrome de autismo, epilepsia y ataxia Algunas anomalias del desarrollo pueden dar lugar al síndrome clinico del autismo y algunas se deben a alteraciones cromosómicas. Se ha identificado un sindrome en el que la alteración del comportamiento está asociada a epilepsia y ataxia y una anomalia cromosómica con un contenido cromosòmico marcador extra, con una duplicación de 15q11–13. Los autores aportan el caso de un niflo con autismo, epilepsia y ataxia y una duplicación intersticial de 15q en el cual el análisis molecular reveló una duplicación de los genes del GABRA5 y del GABRB3 en el cromosoma de origen materno.
Sydenham's Chorea: a Case Showing Reversible Striatal Abnormalities on CT and MRI
Authors: Traill Z. , Pike M. , Byrne J.
Published: July 2010

Sydenham's chorea has not previously been associated with abnormal findings on CT scan, but there have been reports of abnormal MRI in affected patients. The authors describe a case of Syndenham's chorea in which striatal abnormalities were found on both CT and MRL Repeat MRI when the patient's illness had resolved was virtually normal. This suggests that abnormal imaging is entirely compatible with a diagnosis of Sydnenham's chorea in a patient with an appropriate clinical history. Resolution of such abnormalities on repeat scanning provides further support for the diagnosis.

Chorée de Sydenham: un cas marqué par une anomalie réversible du scanner des noyaux striés

II n'a pas été décrit antérieurement d'anomalies au scanner durant une chorée de Sydenham, au contraire de l'IRM. Les auteurs décrivent un cas de chorée de Sydenham avec des anomalies striées, à la fois au scanner et à l'IRM. Des IRM répétées après la guérison donnèrent des images pratiquement normales. Cela suggère qu'une imagerie anormale est totalement compatible avec un diagnostic de chorée de Sydenham chez un sujet avec une histoire clinique évocatrice. La résolution des anomalies à la répétition des scanners fournit un élément supplémentaire de diagnostic.

Sydenham Chorea: ein Fall mil reversiblen Corpus striatum Veränderungen im CT und MRI

Bisher sind bei der Sydenham Chorea noch kcine abnormen CT Befunde beschrieben worden, aber es gibt Berichte über abnormc MRI Befunde bei betroffenen Patienten. Die Autoren beschreiben einen Fall mit Sydenham Chorea, bei dem sowohl im CT als auch im MRI Veränderungen im Corpus striatum gefunden wurden. Das Kontroll‐MRI in der Remission war ganz normal. Das zeigt, daß abnorme MRI Befunde mit der Diagnose der Sydenham Chorea bei einem Patienten mit entsprechender klinischer Anamnese vereinbar sind. Das Verschwinden dieser Anomalien auf den Kontrollaufnahmen ist eine weitere Bestätigung für die Diagnose.

Corea de Sydenham. Un caso con anomatias estriadas reversibles, vistas con la TAC y la IRM

La corea de Sydenham no ha sido anteriormente asociada a hallazgos anómalos en la TAC, pero si hay aportaciones de anomalias en la IRM en pacientes afectos. Los autores describen un caso de corea de Sydenham en el que se hallaron anomalías en el estriado en la TAC y en la IRM. Una nueva IRM realizada cuando el paciente había superado la enfermedad fue normal. Esto sugiere que una imagen anormal es compatible con el diagnóstico de corea de Sydenham, en un paciente con una clinica adecuada. La desaparición de las anomalias en imágenes repetidas apoya el diagnóstico.
A Case of Paroxysmal Tonic Upward Gaze Associated with Psychomotor Retardation
Authors: Sugie Hideo , Sugie Yoko , Ito Mosataka , Tsurui Satoshi , Kawamura Hiroyuki , Yamase Hazumi , Ogasawara Makoto , Matsui Yukino
Published: July 2010

The authors report a female with paroxysmal tonic upward gaze similar to the cases reported by Ouvrier and Billson (1988). She developed abnormal eye‐movements at the age of six months. Several anticonvulsants and levodopa were not effective in the control of the episodes; however, her upward eye‐deviations spontaneously decreased during the one‐year observation. Her clinical features were almost identical to those reported by Ouvrier and Billson, except that she had neurodcvelopmental disorder and abnormal brain MRL More data are required to clarify this unique phenomenon.

Un cas d' élévation paroxystique tonique du regard vers le haul associe a un retard mental

L'article deem une fillette avec un regard paroxystique tonique vers le haut semblable aux descriptions rapportées par Ouvrier et Billson (1988). Elle développa des mouvements anormaux des yeux à l'àge de six mois. Plusicurs anticoniiliaux et la L‐dopa se montrerent inefficaccs dans le contrôle des episodes; en revanche, la tendance au regard vers le haut diminua spontanément durant l'observation d' un an. Les caractéristiques cliniques étaient pratiquement identiques à celles rapportées par Ouvrier et Billson, à l'exception d'un trouble neurodéveioppementai et d'un cerveau anormal à l'IRM. Des donnees supplémentaires seront nécessaires pour clarifier ce phénomène unique.

Ein Fall mit paroxysmalem, tonischem Blick nach oben im Zusamtnenhang mil geistiger Retardierung

Die Autoren berichten Uber eine Patientin mit paroxysmalem tonischem Blick nach oben, ähnlich wie bei den von Ouvrier und Billson (1988) beschriebenen Fällen. Sie enlwickelte abnorme Augenbewegungen im Alter von sechs Monaten. Mehrere Antikonvulsiva und Levodopa konnten die Episoden nicht unter Kontrolle bringen; inncrhalb des einjahrigen Beobachtungszeitraumes wurden ihre nach oben abweichenden Augenbewegungen jedoch spontan geringer. Ihre klinischen Befunde entsprachen denen, die von Ouvrier and Billson beschrieben wurden, außer daß sie noch eine enlwicklungsneurologische Stöning und ein abnormes Hirn‐MRI hatie. lis sind weitere Daten zur Klärung dieses einzigartigen Phänomens erforderlich

Un caso de desviación paroxistica de la mirada haeia arriba. asoeiada a retraso psieomotor

Los autores aportan el caso dc una niña con accesos paroxísticos de desviación de la mirada haeia arriba, semejantes a los rcferidos por Ouvrier y Billson en 1988. Inició los movimientos oculares anorniales a los seis meses de edad. Diversos anticonvulsivanles y levodopa fueron ineficaces para controlar estos episodios. Sin embargo las desviaciones de la mirada haeia arriba disminuyeron espontáncamente a lo largo del año de observación. La clinica era casi identica a la aportada por Ouvrier y Billson. excepto que tenia una alteración del neurodesarrollo y una IRM anómala. Hacen falta más datos para esclarecer este fenómeno único.
THE PREVALENCE OF NEUROLOGICAL DISORDERS AMONG CHILDREN IN GEMLIK (TURKEY)
Authors: Okun N. , Okan M. , Erulp O. , Aytekin A. H.
Published: July 2010

With a descriptive survey, the authors tried to ascertain the prevalence of certain neurological disorders among children aged up to five years. Questionnaires were administered to mothers and their children were divided into two groups (559 children): neurologically healthy and suspect. Suspect children were examined by a paediatrician, who assigned a diagnosis where appropriate (361 children). A control group was selected from the healthy children (420 children), and they were neurologically examined with the suspect children. Cases and controls were compared for family history, and pregnancy and delivery risks. The most frequent condition found was febrile convulsions (0.45 per cent), followed by epilepsy (0.9 per cent) and cerebral palsy (0.5 per cent).

Prévalence de certains troubles netirologiqttes parmi les enfants de la Turquie (Gemlik)

A partir dcar;une enquête descriptive, les auteurs out essuyé dcar;aupprécier la prévalence de certains troubles neurologiques parmi les enfants âgés au plus de cinq ans. Des questionnaires out été présentérs aux mères et leurs enfants ont été examines par un pédiatre qui établit un diagnostic chaque fois que cela s'imposail (361 enfams). Un groupe contról fut établi a partir des enfants en bonne santé (420 enfants), et ils furent examinés en même temps que les cas suspects. Les cas index el contrôles furent compareés pour lcar;anamnèse familiale et les risques de grossesse et dcar;accouchement. La conditionobservée la plus fréquence fut les convulsions hyperthermiqucs (0.45 pour cent), suivie de lcar;épilepsie (0.9 pour cent) el de F.L.M.C (0.5 pour cent).

Häufigkeit bestimmwr neurologischer Erkrankungeii bet Kimlem in der Türkei (Gemlik)

Die Autoren haben versucht, mil einem deskriptiven Übererblick die Häufigkeit bestimmter neurologischer Erkrankungen bei Kindem bis zu fünf Jahren festzustellen. die Mütter bekamen Fragebögen, die Kinder wurden in zwei Gruppen eingeteilt: in neurologisch gesund und affällig (559 Kinder). Die auffälligen Kinder wurden von einem Pädiater unlersuchl, der, wo es angehracht war, eine Diagnose stellte (361 Kinder). Von den gesunden Kindem wurde eine Kontrollgruppe gebildct (420 Kinder) und diese wurden zusammen mil den auffälligen Kindem neurologisch unlersuchl. Probanden und Kontrollen wurde hinsichtlich ihrer Familienanamnese. Schwangerschaftsverlauf und Geburtsrisiken verglichen. Die häufigsten Befund waren Fieberkrämpfe (0.45 Prozent), danach Epilepsie (0.9 Prozent) und Cerebralparese (0.5 Prozent).
HEMISPHERIC FUNCTION IN DEVELOPMENTAL LANGUAGE DISORDERS AND HIGH‐LEVEL AUTISM
Authors: Shields Jane , Varley Rosemary , Broks Paul , Simpson Adrian
Published: July 2010

Two groups of children with contrasting types of developmental language disorder (phonologic‐syntactic and semantic‐pragmatic) were compared with a group of children with high‐level autism and with a control group of normal children on a broad battery of neuropsychological tests, known to be sensitive to left‐right hemisphere damage. Significant differences found between the groups suggest contrasting forms of hemispheric dysfunction.

Foiwtion hémisphérique dans les troubles développeinentaux dit langage et autisme de haul niveau Deux groupes d'enfants avec des types contestants de trouble développemcntal du langage (phonologique‐syntaxique et sémantique‐pragmatique) ont été comparés à un groupe d'enfants avec autisme de haut niveau et avec un groupe contrôle d'enfants normaux sur une large batteric de tests neuropsychologiques, connus pour leur sensibilite aux atteintes de l'hémisphère gauche‐droit. Des différences significatives ont été trouvées entre les groupes, suggérant des formes contrastees de dysfonction hémispherique.

Hemispliärenfunktion bet eittwicklungsbedingten Spmchstoontngen mid liocltgradigem Autismits

Zwei Gruppcn von Kindern mit untcrschiedlichen entwicklungsbedingten Sprachstörungen (phonologisch ‐ syntaktisch und semantisch ‐ pragmatisch) wurden mit einer Gruppe von Kindern mit hochgradigem Autismus und mit einer Kontrollgruppe gesunder Kinder anhand einer Reihe von neuropsychologischen Tests verglichen, von denen man weiß, daß sie rechts‐links Hemisphärenstörungen erfassen.

Fttnción hemisfériea en las alteraciones del desarrollo del lenguaje v autismo de alto nivel

Dos grupos dc niños con tipos contrastados de alteración del desarrollo del lenguaje (fonológico‐sintáctico y semántico‐pragmático) fueron comparados con un grupo de niños con autismo de alto nivel y con un grupo control de niños normalcs utilizando una amplia bateria de prucbas ncuro‐psicológicas, sensibles a la alteración hemisfériea izquicrda‐derecha. Las cliferencias significativas encontradas entre los dos grupos sugieren formas contrastadas de disfunción hemisfériea.
SOCIAL COGNITION IN DEVELOPMENTAL LANGUAGE DISORDERS AND HIGH‐LEVEL AUTISM
Authors: Shields Jane , Varley Rosemary , Broks Paul , Simpson Adrian
Published: July 2010

Two groups of children with contrasting types of developmental language disorder (phonologic‐syntactic and semantic‐pragmatic) were compared with a group of children with high‐level autism and with a control group of normal children on tests of social cognition (theory of mind; social comprehension; and detection of eye direction). The similarly poor performances of the semantic‐pragmatic group and the autistic group suggest that semantic‐pragmatic language disorder lies on the autistic spectrum.

Connaissance sociale dans les troubles développementaux dtt langage el I'aulisme de haul niveau

Deux groupes d'enfants avec des types contrastants de trouble développemental du langage (phonologique‐syntaxique et sémantique‐pragmatique) ont été comparés à un groupe d'enfants avec autisme de haut niveau et avec un groupe contrôlc d'enfants normaux sur des tests de connaissance sociale (théorie de l'esprit; compréhension sociale; et détection de la direction oculairc). Des performances également pauvrcs dans le groupe sémantique‐pragmatique et le groupe autistique suggèrent que le trouble du langage de type sémantique‐pragmatique appartient au spectre de l'autisme.

Soziale Fähigkeiten bei entwicklungsbedingten Sprachstörimgen und hochgradigem Autismus

Zwei Gruppen von Kindern mit verschicdenen entwicklungsbedingten Sprachstörungen (phonologisch‐syntaktisch und semantisch‐pragmatisch) wurden mit einer Gruppe von Kindern mit hochgradigem Autismus und mit einer Kontrollgruppe gesunder Kinder anhand von Tests zur Erfassung sozialer Fähigkeiten (Theory of Mind, soziales Verständnis und Festlegung der Blickrichtung) verglichen. Die ähnlich schlechten Ergebnisse der semantisch‐pragmatischen Gruppe und der autistischen Gruppe lassen vermuten, daß die semantisch‐pragmatische Sprachstörung im autistischen Spektrum liegt.

Cognición social en las alteraciones del desarrollo del lenguaje v autismo de alto nivel

Dos grupos de niños de tipos contrastados dc alteración del desarrollo del lenguaje (fonológico‐sintáctico y semantico‐pragmático) fueron comparados con un grupo de niños con autismo de alto nivel y con un grupo control dc niños normales. utilizando prucbas de cognicion social (teorís de la mente, comprensión social y detección de la dirección ocular). La similitud de los pobres resultados en cl grupo semántico‐pragmático y en el autístico sugieren que la alteracion scmántico‐pragmática del lenguaje está situada en el espectro autístico.
Juvenile Krabbe's Leukodystrophy Precipitated by Influenza A Infection
Authors: McGuinness Oonagh E , Row A P Win , Smyth Diane P L
Published: July 2010

Juvenile Krabbe's disease, a neurometabolic disorder, presented as an acute demyelinating episode characterised by an abnormal gait. The neurological presentation was preceded by influenza A infection.

Leucodystrophie juvénile de Krabbe précipitée par une infection grippale A.

Une maladie juvénile de Krabbe, trouble neurométabolique, tut révélée par un épisode aigu de démyélinisation caractérisé par une démarche anormale. Les manifestations neurologiques furent précéedés par une grippe de type A.

Juvenile Leukodystrophy Typ Krabbe beschleunigt dutch eine Influenza A Infektion?

Bei einer Leukodystrophie Typ Krabbe, einer heurometabolischen Erkrankung, trat ein acuter Demyelinisierungsschub auf, charakterisiert durch einen abnormen Gang. Dem neurologischen Befund ging eine Influenza A Infektion voraus.

Leucodistrofta juvenil de Krabbe precipitada por una infección por influenza A?

La enfermedad juvenil de Krabbe es una alteración neurometabólica que se inicia con un episodio de desmielinización aguda caracterizada por una marcha anómala. El inicio neurológico fue precedido por una infección de influenza A.
The effect of seizure type and medication on cognitive and behavioral functioning in children with idiopathic epilepsy
Authors: Mandelbaum David E. , Burack Gail D.
Published: July 2010

Antiepileptic drugs have been reported to have a variety of adverse effects on behavior and performance in children with epilepsy. Previous studies investigating these side effects, however, have not controlled for the baseline status of the child (e.g. underlying neurological condition, seizure type, socioeconomic status, family variables), making it difficult to determine whether changes in function are attributable to the use of medication. We investigated the cognitive and behavioral profiles of 43 children, aged from 4 to 16 years, with new onset, idiopathic seizures. Twenty‐six of these children participated in a 6‐month follow‐up study, and 12 in a 12‐month follow‐up study, investigating the effects of antiepileptic medications on psychological functioning. The children were of average intelligence (mean 1Q108) and had not previously been treated with antiepileptic medication. Children were classified as having either generalized convulsive, generalized non‐convulsive (absence), simple partial, or complex partial seizures. Prior to the initiation of treatment, children with partial seizures were found to perform better than children with generalized seizures on measures of cognitive functioning. Children with convulsive seizures obtained significantly higher cognitive scores than those with non‐convulsive seizures. Children with generalized non‐convulsive seizures had lower cognitive scores than subjects with other types of seizure. No differences were found between groups at baseline prior to the initiation of antiepileptic medications. Analysis of subjects' performance after 6 and 12 months of antiepileptic therapy showed no significant deterioration attributable to medication. The differences in cognitive performance of the four seizure groups at baseline were not apparent at the time of follow‐up. These results indicate that intrinsic and environmental variables may play a more significant role in predisposing certain children to cognitive and learning problems than do antiepileptic medications.
A randomized clinical trial to compare selective posterior rhizotomy plus physiotherapy with physiotherapy alone in children with spastic diplegic cerebral palsy
Authors: Steinbok Paul , Reiner Ann M. , Beauchamp Richard , Armstrong Robert W. , Cochrane D Douglas
Published: July 2010

A randomized controlled single‐blind trial was performed to compare lumbo‐sacral selective posterior rhizotomy (SPR) followed by intensive physiotherapy, with intensive physiotherapy alone in improving motor function in children with spastic diplegic cerebral palsy. Fifteen patients were randomly assigned to each treatment modality. Patients in the SPR group had rhizotomy within 1 month, followed by intensive outpatient physiotherapy for 9 months. Patients assigned to physiotherapy alone had identical intensive physiotherapy. There was a statistically significant and clinically important difference in improvement in motor function in favor of the SPR group, with a mean increase in total Gross Motor Function Measure (OMFM) score of 11.3% at 9 months for the SPR group compared with 5.2% for the physiotherapy‐only group (P=0.007). Significant improvements in spasticity (P<0.001) and range of movement (P<0.001) were noted in the SPR group compared to the physiotherapy‐only group. The results indicate that the improvement in motor function after SPR is more than can be explained by the associated intensive physiotherapy.
Medical and social factors associated with cognitive outcome in individuals with myelomeningocele
Authors: Bier Jo‐Ann Blaymore , Morales Yesenia , Liebling Jill , Geddes Lauren , Kim Eugene
Published: July 2010

The interrelationship between biological and social risk factors and cognitive outcome in individuals with myelomeningocele was examined. The Kaufman Brief Intelligence Test (K‐BIT) was administered to 65 children and young adults, age range 4 to 29 during a recent clinic visit. Unshunted individuals had scores in the average range and individuals with uncomplicated hydrocephalus in the low‐average range. Although the level of lesion was found to be most strongly associated with total K‐BIT score, examination of subscores indicated that socioeconomic status was the factor most strongly associated with Vocabulary score. The importance of both social and biological factors in predicting cognitive outcome in this population is useful in planning intervention strategies.
The effect of intracranial pressure on myelination and the relationship with neurodevelopment in infantile hydrocephalus
Authors: Hanlo P W. , Gooskens R J H M. , van Schooneveld M. , Tulleken C A F. , van der Knaap M S. , Faber J A J. , Willemse J.
Published: July 2010

The effect of raised intracranial pressure (ICP), due to infantile hydrocephalus, on the process of myelination has been suggested in the literature. In this study 19 hydrocephalic infants were followed‐up with anterior fontanelle pressure (AFP) measurement (assessment of ICP), MRI (assessment of the myelination process and the CSF volume), and neurodevelopmental testing (NDT). There was a high correlation (r=0.80) between the myelination and NDT scores. The size of the CSF volume showed a poor correlation with the mean AFP, the degree of myelination and the NDT scores. There was, however, a significant correlation between the mean AFP and the degree of myelination (r=0.67) and also between the mean AFP and the NDT scores (r=0.70). Longer‐term follow‐up (mean=27 months) showed a significant correlation between the early progress of myelination and later developmental level (r=0.78). Most of the children with a severely delayed myelination, preoperatively, showed a recovery of myelination following CSF drainage. It was concluded that: (1) raised ICP is related to developmental outcome, through the process of myelination; (2) the delay in myelination can be (partially) reversible; and (3) CSF volume is of minor importance regarding neurodevelopment.
Grating acuity and visual‐field development in children with intraventricular hemorrhage
Authors: Harvey Erin M. , PhD Velma Dobson , Ph Beatriz Luna , Scher Mark S.
Published: July 2010

Visual development was studied in 171 preterm children who had intraventricular hemorrhage (IVH) and in 73 healthy preterm (HPT) children who did not develop IVH. Binocular grating acuity was assessed at age 1 month; monocular grating acuity and binocular visual‐field extent were assessed at 4, 8,12,17,24,30, 36, and 48 months; and monocular H, O, T, V letter recognition acuity was tested at 38 and 48 months. A significantly greater proportion of IVH subjects than HPT subjects had ocular abnormalities. IVH subjects had significantly poorer grating acuity than HPT subjects at 1,4,8,36, and 48 months, poorer recognition acuity than HPT subjects at 36 and 48 months, and smaller average field extent than HPT subjects at 4,12, and 17 months. Acuity deficits were not related to grade of IVH or to the presence of periventricular leukomalacia, but may have been associated with the presence of ocular abnormalities or cerebral palsy in some IVH subjects.
Feeding ability in Rett syndrome
Authors: Morton R E. , Bonas R. , Minford J. , Kerr A. , Ellis R E.
Published: July 2010

Feeding abilities in 20 individuals with Rett syndrome aged1%to 33 years were investigated by history and clinical assessment during a meal, followed by videofluoroscopy of feeding. All were shown to have reduced movements of the mid and posterior tongue, with premature spillover of food and liquid from the mouth into the pharynx. They also showed delayed pharyngeal swallow, but otherwise pharyngeal problems were minimal. These findings were noted to be similar to those in Parkinson's disease. Those individuals with the most general neurological impairment tended to have the worst feeding problems and were smaller and malnourished.
Developmental outcomes in children receiving resection surgery for medically intractable infantile spasms
Authors: F Asarnow Robert , LoPresti Christine , Guthrie Donald , Elliott Teresa , Cynn Virginia , Shields W Donald , Shewmon D Alan , Sankar PhD. Raman , J Peacock Warwick
Published: July 2010

Two‐year postsurgical developmental outcomes were assessed in 24 children with infantile spasms who underwent resective surgery. The mean age of onset of infantile spasms was 12.0 weeks and the mean age at surgery was 20.8 months. Developmental outcomes were assessed using the Vineland Adaptive Behavior Scales (VABS). There was a significant increase in developmental level at 2 years postsurgery compared with presurgical levels. At 2 years postsurgery only one of the children in this series was severely retarded. The developmental outcomes of patients in the series were better than those in prior studies of symptomatic patients receiving medical treatment for infantile spasms. It is surprising that the children in the UCLA series frequently had developmental outcomes equal to and sometimes superior to other groups of children with infantile spasms, since all the UCLA patients were symptomatic, had neurologic deficits and had failed to respond to adrenocorticotropic hormone (ACTH) and antiepileptic drugs. The 2‐year postsurgery developmental outcomes were best for the children who received surgery, when they were relatively young and who had the highest level of developmental attainments presurgically.
Kabuki make‐up (Niikawa‐Kur oki) syndrome: cognitive abilities and autistic features
Authors: Ho Helena H. , Eaves Linda C.
Published: July 2010

Kabuki make‐up syndrome (KMS), also known as Niikawa‐Kuroki syndrome, is a rare malformation complex characterized by a peculiar facies with long palpebral fissures and partially everted lower eyelid, mental retardation, dwarfism, and skeletal and dermatoglyphic abnormalities/ Four children from different ethnic groups presented with phenotypic manifestation of KMS. They showed variable degrees of learning disabilities, mental retardation, and autistic behavior. Two boys declined in IQ in early adolescence. In addition to being aware of the variable presentation of cognitive and behavioral characteristics in those already diagnosed, it is important to consider KMS when assessing dysmorphic children with learning disabilities and/or autism.
Deglutition apnoea as indicator of maturation of suckle feeding in bottle‐fed preterm infants
Authors: Hanlon M B. , Tripp J H. , Ellis R E. , Flack F C. , Selley W G. , Shoesmith H J.
Published: July 2010

The maturation of deglutition apnoea time was investigated in 42 bottle‐fed preterm infants, 28 to 37 weeks gestation, and in 29 normal term infants as a comparison group. Deglutition apnoea times reduced as infants matured, as did the number and length of episodes of multiple‐swallow deglutition apnoea. The maturation appears related to developmental age (gestation) rather than feeding experience (postnatal age). Prolonged (>4 seconds) episodes of deglutition apnoea remained significantly more frequent in preterm infants reaching term postconceptual age compared to term infants. However, multiple‐swallow deglutition apnoeas also occurred in the term comparison group, showing that maturation of this aspect is not complete at term gestation. The establishment of normal data for maturation should be valuable in assessing infants with feeding difficulties as well as for evaluation of neurological maturity and functioning of ventilatory control during feeding.
Using motor milestones as a multistep process to screen preterm infants for cerebral palsy
Authors: Allen Marilee C. , Alexander Grey R
Published: July 2010

Pediatricians often informally use motor milestones to screen infant motor development, and one advantage is that they can be used during sequential office visits, as a multistep screening process. In this study we evaluated six motor milestones (roll prone to supine, roll supine to prone, sit with support, sit without support, crawl and cruise) as a multi‐step process in screening for cerebral palsy in 173 high‐risk preterm infants (<33 weeks gestational age) who had been followed with sequential developmental assessments for at least 18 months. At the 18 to 24 month evaluation, 31 (18%) had cerebral palsy. We found that using the motor milestones as serial screening tests for cerebral palsy was more effective in terms of positive predictive value than any individual milestone alone. Limited community resources can be more efficiently used if preterm infants with delays in more than four motor milestones are referred for further evaluation and early intervention services.
Childhood traumatic brain injury: neuropsychological status at the time of hospital discharge
Authors: Boiren Julie M , Clark Elaine , Bigler Erin D , Gardner Michael , Nilsson David , Gooch Judith , Pompa Janiece
Published: July 2010

The present study examined the status at the time of hospital discharge of 22 children who had sustained moderate to severe closed head injuries. Despite an average length of stay of 46 days, on average the children performed significantly below normal on cognitive, memory, and motor tests. The children who did the worst were those who sustained their injuries riding in a vehicle, as opposed to being hit by a vehicle while walking or riding a bicycle. No reliable associations were found between neuroimaging data and cognitive measures; however, children whose scans showed more diffuse severe injury (e.g. white matter hemorrhages) performed more poorly than those who did not. Of further importance were detailed morphometric analyses of tissue quantity and ventricular volume that showed significantly increased ventricle to brain ratios (VBR) over a 3 to 4 week period following injury.
Dopa‐responsive childhood dystonia: a forme fruste with writer's cramp; triggered by exercise
Authors: Deonna Thierry , Roulet Eliane , Ghika Joseph , Zesiger Pascal
Published: July 2010

An 11‐year‐old girl was evaluated for walking difficulties and fatigue at the end of the day in the last 2 years. Handwriting was also difficult with ‘cramps’ after a short time of writing. Neurological examination was normal most of the time but in the evening and after exercise, an abnormal walking posture and rare dystonic movements of the foot could sometimes be seen. The mother was found to have mild parkinsonism and is asymptomatic on L‐dopa. In the daughter, all symptoms and signs disappeared on L‐dopa, but returned when the drug was withdrawn. The changes on‐ and off‐treatment were documented with videofilms and computerized analysis of writing samples. The situation has been stable during a 5‐year follow‐up. We draw attention to this ‘forme fruste’ of dopa‐sensitive childhood dystonia which becomes manifest with exercise and which can easily go unrecognized. We also discuss and illustrate the methods used for the analysis of writing.
Interlimb coupling in children with hemiplegic cerebral palsy during reaching and grasping at speed
Authors: PGCE Andrea Utley BA , Chair David Sugden MSc PhD.
Published: July 2010

This investigation examined reaching and grasping at speed in children with hemiplegic cerebral palsy. Of particular interest was the effect of the movement of the less affected limb on the more affected one. Using 3D kinematic analysis and standard video recordings, 11 children with hemiplegia of varying degrees of severity were examined performing three reaching tasks at speed. The data were analysed and the extent and nature of the interlimb coupling occurring in each child were assessed using a number of different variables. The results are discussed in terms of spatial, temporal, and postural coupling. All children coupled to some degree but differed in the degree and type of coupling. Speed facilitated coupling which was stronger during the first part of the movement in all three tasks. The variables affecting coupling included the type of coupling, the nature of the task, the importance of context, and the stage in the movement.
Two males with childhood disintegrative disorder: a prospective 14‐year outcome study
Authors: Burd Larry , Ivey Mary , Barth Amy , Kerbeshian Jacob
Published: July 2010

A prospective 14‐year outcome study of two children meeting DSM‐IV criteria for childhood disintegrative disorder is presented. Their ages at first evaluation were 4 years 7 months and 6 years 3 months. Both are now adults and continue to have a severe pervasive developmental disorder, mental retardation, seizure disorder, and are non‐verbal. Both require residential care.
Neurologic evaluation of the newborn infant: definition and psychometric properties
Authors: Majnemer Annette , Mazer Barbara
Published: July 2010

The neonatal neurologic assessment is an evaluation of neurologic function in the newborn infant. This paper provides an overview of the construct, content, and purpose of the neonatal neurologic examination. Furthermore, the reliability and validity of nine standardized neonatal assessments are reviewed.
Diagnosis of Rett syndrome: can a radiograph help?
Authors: Glasson E J. , Bower C. , Thomson M K. , Fyfe S. , Leonard S. , Christodoulou J. , Fllaway C. , Leonard H. , Rousham E.
Published: July 2010

Rett syndrome (RS), a neurodevelopmental disorder almost exclusively affecting girls, is associated with severe intellectual and motor disability. In the absence of biological markers, diagnosis is determined by a set of clinical criteria. In a previous study in Scotland, shortening of the fourth metatarsal was reported clinically in 20% of classical RS cases aged 5 years or older. The Australian Rett Syndrome Study database has facilitated a population‐based radiological study of the hands and feet of girls with RS. Straight radiographs of hands and feet were available from 94 cases, representing 70.1% of the known RS population in Australia. Control radiographs were matched for age, sex, and laterality. Relative shortening of the fourth metacarpal/metatarsal was assessed using the sign method. A short ulna (negative ulna variance) was defined as the distal articular surface of the ulna being at least 5mm proximal to the distal articular surface of the radius. A positive metacarpal sign was twice as common in verified cases of RS than in controls in the right but not the left hand. A short ulna was more common in subjects with RS than in controls. A short fourth metatarsal was also more common among subjects with RS. More than half (56.6%) the girls with RS over the age of 4 years had a negative ulnar variance in either wrist or a metatarsal sign in either foot. These findings will assist with the diagnosis of RS and may help direct research towards the location of the molecular defect.
Mortality of urban and rural young children with cerebral palsy in Bangladesh
Authors: Khan Naila Z. , Ferdous Shameem , Munir Shirin , Huq Sharmin , McConachie Helen
Published: July 2010

Bangladesh has a high child mortality rate. However, little is known about the outcome for young children who have cerebral palsy (CP). Ninety‐two children with CP with a mean age of 3 years 3 months at entry into the study were followed for up to 3 years as part of an intervention study. Eight children died: two of 49 (4%) from an urban area and six of 43 (14%) from a rural area. Extrinsic factors such as infections and drug reactions preceded all the deaths, but those who died were mostly severely malnourished and among the more severely disabled of the total group. Eighty‐nine percent of rural children in the study were from low‐income families. Intervention programmes for severely disabled children in developing countries must include primary health care and feeding programmes as well as rehabilitation services to address both the needs of the child and empowerment of the mother and the family.
Psychopathology in pediatric complex partial and primary generalized epilepsy
Authors: Caplan Rochelle , Arbelle Shoshana , Magharious Wagdan , Guthrie Donald , Komo Scott , Shields W Donald , Chayasirisobhon Sirichai , Hansen Rebecca
Published: July 2010

Structured psychiatric interviews were administered to 60 children with complex partial seizure disorder (CPS). 40 children with primary generalized epilepsy with absences (PGE), and 48 control children, aged 5 to 16 years. Significantly more patients with epilepsy had psychiatric diagnoses compared with the control children. There were no statistically significant differences, however, in the number of patients with CPS and PGE with psychiatric diagnoses. Other than a schizophrenia‐like psychosis found only in the patients with CPS, the two groups of patients had similar psychiatric diagnoses. The presence of psychopathology was related to significantly lower IQ scores and socioeconomic status, but not to seizure‐related factors. These findings suggest that the psychopathology of children with CPS and PGE reflects different subtle neuropsychological deficits.
Improved ankle function in children with cerebral palsy after computer‐assisted motor learning
Authors: Toner L V. , Cook K. , Elder G C B.
Published: July 2010

The effect of biofeedback training on ankle function was studied in young children with cerebral palsy (CP) during a pilot study and a 6‐week follow‐up study. Patients underwent range of motion (ROM) and ankle dorsiflexor (DF) strength training in a laboratory 3 days per week, receiving auditory and visual feedback. An at‐home programme used portable EMG units to help train DF muscle recruitment on the remaining days. Independent outcome measures included DF strength, active ROM. and tapping ability pretraining and 6 weeks and 14 months posttraining. Tapping ability increased significantly in the trained leg posttraining. It then fell significantly at the 6‐weeks posttraining test, but remained significantly higher than pretest levels, and returned to pretraining levels by 14 months. Passive ROM was unchanged, but active ROM increased significantly in the trained leg. DF strength increased in most children posttraining in both the pilot and main study. Increased motor‐unit recruitment is believed to explain the increases in DF strength and active ROM. These results suggest that biofeedback training can improve ankle function, and the implications for gait are discussed.