Loading...
Publication
Caracterização do perfil de desenvolvimento de uma amostra de crianças com Perturbação Neuromotora associada a Síndrome Genético
| Name: | Description: | Size: | Format: | |
|---|---|---|---|---|
| 691.02 KB | Adobe PDF |
Authors
Advisor(s)
Abstract(s)
Existem evidências de longa data que indicam que alguns pacientes com perturbações
neuromotoras, como a paralisia cerebral podem ter causas genéticas. Na Paralisia Cerebral
existem variadas etiologias e manifestações. Hoje em dia, ao contrário do que se acreditava no
passado, muitos dos pacientes que apresentam problemáticas relativas a alterações das funções
motoras tem etiologias genéticas associadas.
A heterogeneidade dos fenótipos é uma marca dos indivíduos com este tipo de
perturbações neuromotoras de origem genética. Existe uma variação considerável do
funcionamento cognitivo nestas crianças, no entanto, como grupo, estas revelam muitas vezes
uma baixa capacidade intelectual associada a disfunções executivas. É importante sublinhar
ainda, que nestes casos clínicos, podemos encontrar perturbações do neurodesenvolvimento
associada a lesões neurológicas, limitações tónicas, musculares e no controlo motor voluntario
e involuntário.
Uma amostra de 26 crianças com síndromes genéticas associada a perturbações
neuromotoras, com idade média de 64 meses, foi coletada ao longo de seis meses num centro
de reabilitação. O perfil de desenvolvimento dessas crianças foi caracterizado usando a escala
de desenvolvimento Griffiths III, a fim de identificar as áreas mais deficitárias, bem como as
áreas em que têm habilidades mais fortes.
Nos resultados foi possível observar limitações marcadas em todas áreas do
desenvolvimento. Por fim, com esta divulgação espera-se contribuir para a sensibilização da
importância da avaliação precoce, de forma a criar janelas de oportunidade para o trabalho feito
com crianças com etiologia genética.
ABSTRACT: There is long-standing evidence that some patients with neuromotor disorders such as cerebral palsy may have genetic causes. Cerebral Palsy has a variety of etiologies and manifestations. Nowadays, contrary to what was believed in the past, many of the patients with problems related to altered motor functions have associated genetic etiologies. The heterogeneity of phenotypes is a hallmark of individuals with this type of neuromotor disorder of genetic origin. There is considerable variation in the cognitive functioning of these children, however, as a group, they often show low intellectual capacity associated with executive dysfunction. It is also important to note that in these clinical cases, we can find neurodevelopmental disorders associated with neurological lesions, tonic and muscular limitations and voluntary and involuntary motor control. A sample of 26 children with genetic syndromes associated with neuromotor disorders, with an average age of 64 months, was collected over six months at a rehabilitation center. The developmental profile of these children was characterized using the Griffiths III developmental scale, in order to identify the most deficient areas, as well as the areas in which they have the strongest abilities. The results showed marked limitations in all areas of development. Finally, we hope that this publication will help raise awareness of the importance of early assessment, in order to create windows of opportunity for work with children with genetic etiology.
ABSTRACT: There is long-standing evidence that some patients with neuromotor disorders such as cerebral palsy may have genetic causes. Cerebral Palsy has a variety of etiologies and manifestations. Nowadays, contrary to what was believed in the past, many of the patients with problems related to altered motor functions have associated genetic etiologies. The heterogeneity of phenotypes is a hallmark of individuals with this type of neuromotor disorder of genetic origin. There is considerable variation in the cognitive functioning of these children, however, as a group, they often show low intellectual capacity associated with executive dysfunction. It is also important to note that in these clinical cases, we can find neurodevelopmental disorders associated with neurological lesions, tonic and muscular limitations and voluntary and involuntary motor control. A sample of 26 children with genetic syndromes associated with neuromotor disorders, with an average age of 64 months, was collected over six months at a rehabilitation center. The developmental profile of these children was characterized using the Griffiths III developmental scale, in order to identify the most deficient areas, as well as the areas in which they have the strongest abilities. The results showed marked limitations in all areas of development. Finally, we hope that this publication will help raise awareness of the importance of early assessment, in order to create windows of opportunity for work with children with genetic etiology.
Description
Dissertação de Mestrado realizada
sob a orientação de Professora
Doutora Maria Vânia Nunes e coorientação da Doutora Iolanda Gil,
apresentada no Ispa – Instituto
Universitário para obtenção de
grau de Mestre na especialidade de
Neurociências Cognitivas e
Comportamentais.
Keywords
Perfil de desenvolvimento Escala Griffiths III Síndromes Genéticos Developmental profile Griffiths III Scale Genetic syndromes