Nuevas claves para la lectura de Cornelia Bororquia (1801)

En los últimos años del siglo XVIII y principios del siglo XEK la vigencia del pensamiento éclairé fomenta un clima favorable a la supresión del Santo Oficio; la censura del Santo Tribunal es el eje central de Cornelia Bororquia o la víctima de la Inquisición (1801), novela del ex-trinitario Luis Gutiérrez que narra la indefensión de una muchacha en las cárceles de la Inquisición. La novela argumenta en favor de la tolerancia religiosa y en la línea de un cristianismo ilustrado, pero no alcanza el tono radical de otros españoles expatriados. Mientras que el exilio de José Marchena radicaliza su discurso político y su sueño de una sociedad sin clases, la vía de Luis Gutiérrez es más reformadora y posibilista, pues confía en que los vástagos de la nobleza más culta y enciclopédica sean una pieza clave en la modernización del pensamiento en España.

Nuevas claves para la lectura de Cornelia Bororquia (1801)

En los últimos años del siglo XVIII y principios del siglo XEK la vigencia del pensamiento éclairé fomenta un clima favorable a la supresión del Santo Oficio; la censura del Santo Tribunal es el eje central de Cornelia Bororquia o la víctima de la Inquisición (1801), novela del ex-trinitario Luis Gutiérrez que narra la indefensión de una muchacha en las cárceles de la Inquisición. La novela argumenta en favor de la tolerancia religiosa y en la línea de un cristianismo ilustrado, pero no alcanza el tono radical de otros españoles expatriados. Mientras que el exilio de José Marchena radicaliza su discurso político y su sueño de una sociedad sin clases, la vía de Luis Gutiérrez es más reformadora y posibilista, pues confía en que los vástagos de la nobleza más culta y enciclopédica sean una pieza clave en la modernización del pensamiento en España.

Nuevas claves para la lectura de Cornelia Bororquia (1801)

En los últimos años del siglo XVIII y principios del siglo XEK la vigencia del pensamiento éclairé fomenta un clima favorable a la supresión del Santo Oficio; la censura del Santo Tribunal es el eje central de Cornelia Bororquia o la víctima de la Inquisición (1801), novela del ex-trinitario Luis Gutiérrez que narra la indefensión de una muchacha en las cárceles de la Inquisición. La novela argumenta en favor de la tolerancia religiosa y en la línea de un cristianismo ilustrado, pero no alcanza el tono radical de otros españoles expatriados. Mientras que el exilio de José Marchena radicaliza su discurso político y su sueño de una sociedad sin clases, la vía de Luis Gutiérrez es más reformadora y posibilista, pues confía en que los vástagos de la nobleza más culta y enciclopédica sean una pieza clave en la modernización del pensamiento en España.

An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance

The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother. These cases show evidence for a dominantly inherited syndrome with a de Lange phenotype.

Causal Models of Clinically Significant Behaviors in Angelman, Cornelia de Lange, Prader-Willi and Smith-Magenis Syndromes

The operant learning theory account of behaviors of clinical significance in people with intellectual disability (ID) has dominated the field for nearly 50 years. However, in the last two decades, there has been a substantial increase in published research that describes the behavioral phenotypes of genetic disorders and shows that behaviors such as self-injury and aggression are more common in some syndromes than might be expected given group characteristics. These cross-syndrome differences in prevalence warrant explanation, not least because this observation challenges an exclusively operant learning theory account. To explore this possible conflict between theoretical account and empirical observation, we describe the genetic cause and physical, social, cognitive and behavioral phenotypes of four disorders associated with ID (Angleman, Cornelia de Lange, Prader-Willi and Smith-Magenis syndromes) and focus on the behaviors of clinical significance in each syndrome. For each syndrome we then describe a model of the interactions between physical characteristics, cognitive and motivational endophenotypes and environmental factors (including operant reinforcement) to account for the resultant behavioral phenotype. In each syndrome it is possible to identify pathways from gene to physical phenotype to cognitive or motivational endophenotype to behavior to environment and back to behavior. We identify the implications of these models for responsive and early intervention and the challenges for research in this area. We identify a pressing need for meaningful dialog between different disciplines to construct better informed models that can incorporate all relevant and robust empirical evidence.

Further refinement of the nature of the communication impairment in Cornelia de Lange syndrome

Purpose – Research into the communication skills of individuals with Cornelia de Lange syndrome (CdLS) is extremely limited. This paper aims to evaluate the nature of these skills and impairments in CdLS using a detailed informant assessment of pre-verbal communication skills.
Design/methodology/approach – The study used the Pre-verbal Communication Schedule to evaluate communication skills in individuals with CdLS (n ¼ 14), aged five to14 years. The group was compared with a contrast group of individuals with Cri du Chat syndrome (CdCS; n ¼ 14) who were matched for age and intellectual ability.
Findings – A significant difference was identified in understanding non-vocal communication (p , 0.005), with the CdLS group showing a greater deficit. These findings indicate the presence of a syndrome-specific deficit in understanding non-verbal communication in individuals with CdLS and suggest that there may be a dissociation between the processing of verbal and non-verbal communication.
Originality/value – The findings indicate that, in many ways, these two syndrome groups are not dissimilar in terms of their communication skills. However, individuals with CdLS show a syndrome-specific deficit in understanding non-vocal communication relative to the CdCS group.

Intervención logopédica en un caso de síndrome de Cornelia de Lange.

Resumen en inglés

Case report: Cornelia de Lange Syndrome (CDLS)

The Cornélia of Lange´s syndrome is a genetic anomaly, described and published by Cornelia Catharina of Lange in 1933, however, their aspects were described previously by Winfried Robert Clemens Brechmann in 1916, that’s why it is also known as Brachmann of Lange’s syndrome. The most frequent clinical characteristics include typical face dismorfia, variable degree of mental delay, anomalies of the hands and feet, multiple malformations, retardation of the pre and postnatal physical development and microcephaly variable intellectual compromising. Some facial characteristics are peculiar and they are mixed with the inherited lines of their own family, the united brows, the long lashes, the small nose, the round face, the fine lips and lightly inverted. As oral manifestations they present micrognathia, dental crowding, periodontal disease, delayed dental eruption, enamel hypoplasia, erosion of the enamel and dentine caused by stomach acids of the gastroesophageal reflux and atresia of the dental arches. The purpose of this paper is to present a clinical report of a boy bearer of this syndrome assisted at CAOE - FOA - UNESP, emphasizing the importance of multiprofessional team for the diagnosis and treatment of this syndrome.

Cornelia Schmitt-Czanyi, Brustbild

Signatur des Originals: S 36/G02181

Cornelia Hollosy, Rollenbild

Signatur des Originals: S 36/G04125