Investigation of degenerative disease of the central nervous system.

Wilson, Jayne S.

doi:10.1136/adc.47.252.163

Cited by 14 publications

(5 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The investigation and differential diagnosis of the neuro-degenerative disorders of childhood have been usefully reviewed recently (Wilson, 1974;Noronha, 1974), and it is clear that the clinical picture will differ according to whether the condition is of infantile or late juvenile onset, whether it is associated with focal neurological signs early in the course, or whether the condition involves predominantly grey matter or white matter.…”

Section: Discussionmentioning

confidence: 99%

Progressive Disintegrative Psychosis of Childhood

Corbett

Harris

Taylor

et al. 1977

Child Psychology Psychiatry

View full text Add to dashboard Cite

Summary The literature concerning dementia and disintegrative psychosis in childhood is reviewed. Two cases with different neurodegenerative disorders presenting with late juvenile onset psychiatric symptoms arc described. There appears little point in retaining the eponymous syndromes of de Sanctis and Heller. The diagnostic category of Progressive Disintegrative Psychosis is appropriate to describe the clinical psychiatric picture in these children. Because of the rarity of such conditions further collaboration between child psychiatrists, paediatiric neurologists and neuropathologists is needed to delineate further the psychiatric syndromes associated with the neurodegenerative disorders.

show abstract

Section: Discussionmentioning

confidence: 99%

Progressive Disintegrative Psychosis of Childhood

Corbett

Harris

Taylor

et al. 1977

Child Psychology Psychiatry

View full text Add to dashboard Cite

show abstract

“…Estudios poblacionales han dado seguimiento a la distribución de estas mutaciones y se observó que se extienden en poblaciones pequeñas como lo son los Judíos Ashkenazi que presentan la forma infantil de la enfermedad de Tay-Sachs con una incidencia de 12 por cada 100,000 nacimientos, ya que en esta población frecuentemente tanto el padre como la madre presentan mutaciones en el gen HEXA lo que genera la forma temprana o infantil de la enfermedad [8]. Otras comunidades como los Cajun del sur de Louisiana, que se desconoce si son judíos pero se sabe que la pareja fundadora provenía de Francia del siglo XVIII que se cree tienen una ascendencia en común con los Canadienses franceses en el este de Quebec ya que estos también presentan mutaciones que conllevan al desarrollo de la enfermedad de Tay-Sachs con una incidencia aproximada de 0.2 por cada 100,000 nacimientos, con la característica de que las mutaciones que se presentaban en esta comunidad no se relacionan con los Ashkenazi ni con los Cajun [9][10][11].…”

Section: Enfermedad De Tay-sachsunclassified

Enfermedad de Tay-Sachs

López-de la Mora,

Sánchez-Roque

2017

acs

View full text Add to dashboard Cite

La evolución son todos esos cambios que ocurren y han ocurrido a través del tiempo en los seres vivos. Y esto implica un cambio genético, que es el principal factor de la evolución. La rama de la biología que estudia estos procesos se hace llamar “genética de poblaciones” y sustenta principios teóricos que explican los cambios evolutivos. La mayoría de las especies se componen de una o más poblaciones donde se cruzan entre sí, lo que forma una combinación genética a la que llamamos población mendeliana. Este intercambio de genes es el punto clave donde se desarrolla la evolución [1,2]. El material genético es el único componente que se transmite de generación en generación, por lo tanto, si un individuo deja más descendientes estará más presente su diversidad genética. Así las frecuencias de los distintos alelos cambian de generación en generación, permaneciendo siempre la que más se haya expandido. Existe factores que influyen en las frecuencias de alelos de una población, dichos factores pueden modificar esta frecuencia génica de las poblaciones [1].

show abstract

“…Malamud succinctly dispatched Heller's disease as 'a waste-paper basket diagnosis for all sorts of organic brain disorder, but more importantly, one which had been mistakenly confused with childhood schizophrenia.' Thc investigation and differential diagnosis of the neurodegenerative disorders were reviewed by Wilson (1974), who described 100 consecutive cases referred to the Hospital for Sick Children, Great Ormond Street, London, England. He emphasized that., in a sizeable minority of cases, in spite of technical advances, the diagnosis remained obscure with non-specific changes at post-mortem.…”

Section: Progressive Disintegrative Psychosismentioning

confidence: 99%

Development, disintegration and dementia

Corbett

1987

J intellect Disabil Res

View full text Add to dashboard Cite

It has been argued that there is an important group of conditions, seen for the first time in laie infancy and early childhood, which are both remarkably persistent and pervasive in their influence on cognitive and social development. They combine features of childhood autism, mental retardation and cognitive deterioration and the term 'disintegrative' most precisely characterizes their impact on development. The term 'psychosis' is only usually appropriate in describing the severity of the psychiatric symptoms. In order to avoid confusion with the psychoses or dementia of aduh life, the term 'distintegrative disorder of development' may be preferred. While specific pathology is being identified in an increasing number of cases, the combined use of psychiatric and physical diagnostic categories perhaps best serves to draw attention to this important group of disorders. It is likely that, with increasing knowledge, the need for such an interim diagnostic category may become unnecessary.

show abstract

Investigation of degenerative disease of the central nervous system.

Cited by 14 publications

References 23 publications

Progressive Disintegrative Psychosis of Childhood

Progressive Disintegrative Psychosis of Childhood

Enfermedad de Tay-Sachs

Development, disintegration and dementia

Contact Info

Product

Resources

About