Motor, linguistic, personal and social aspects of children with Down syndrome

AbstractA global developmental delay is expected from Down syndrome, affecting motor, cognitive, linguistic and personal-social skills. However, not always these delays are proportional; different conditions occur due to several intrinsic and extrinsic variables that must be controlled to form groups of greater homogeneity.Objective To enhance personal-social, fine motor-adaptive, gross motor and linguistic skills among children with Down syndrome and compare them with typically developing children, matched for gender, socioeconomic status and mental age, while controlling some variables that interfere with the global development.Methods The ethical aspects were fulfilled (Case No. 040/2009). The following inclusion criteria were considered: participants without a history of prematurity, very low birth weight, congenital hypothyroidism, significant hearing and vision problems, and signs of Autism Spectrum Disorder. After the inclusion criteria were considered, 40 children participated in the study, of which 20 had Down syndrome (experimental group - EG), these being of both genders and with chronological ages ranging from 38 to 63 months, and the other 20 being typically developing children (control group - CG), matching the EG in terms of gender, socioeconomic status and mental age, with this age ranging from 13 to 50 months. The evaluation consisted in applying the Denver Developmental Screening Test II, a test that assesses areas such as personal-social, fine motor-adaptive, linguistic and gross motor development. The results were subjected to statistical analysis using Student’s t-test.Results A statistically significant difference was verified between the groups for the language and fine motor-adaptive areas.Conclusion Children with Down syndrome showed lower performance in language and fine motor skills when compared with typically developing children. There was no statistically significant difference in gross motor and personal-social areas. It is worth mentioning the importance of controlling the variables to deal with more homogeneous groups.

Desenvolvimento cognitivo de pacientes com síndrome de Apert e síndrome de Crouzon: modelo multidisciplinar de avaliação / Cognitive development in Apert Syndrome and Crouzon Syndrome patients: a multidisciplinary model for evaluation

As craniossinostoses sindrômicas, dentre as quais são mais frequentes a Síndrome de Apert e a Síndrome de Crouzon, apresentam como desafio em seu tratamento uma abordagem multi e interdisciplinar objetivando um maior desenvolvimento e melhor qualidade de vida para estes pacientes. A Síndrome de Apert e a Síndrome de Crouzon são decorrentes de mutações no gene que codifica o receptor do Fator de Crescimento de Fibroblastos e têm em comum o fechamento precoce das suturas cranianas que cursam por vezes com hipertensão intracraniana. Diversos são os fatores apontados como importantes na determinação do desenvolvimento cognitivo final destes pacientes que podem apresentar desde um desempenho adequado para o convívio social exercendo suas potencialidades intelectuais até indivíduos com atraso importante no desenvolvimento. Fatores como cirurgia craniofacial para descompressão do encéfalo, melhora dos aspectos craniofaciais estéticos e benefícios para a respiração são apontados como relevantes neste desenvolvimento. As alterações encefálicas que podem estar ausentes, serem únicas ou mesmo múltiplas são também apontadas como possíveis determinantes do desenvolvimento cognitivo. O estímulo do meio através da interação com familiares e o ambiente de convívio estimulante são fundamentais. Compilamos trabalhos publicados pelo autor no período 2004 a 2007 que evidenciam a importância dos fatores relacionados ao desenvolvimento cognitivo devendo-se ressaltar a classe socioeconômica das famílias e o nível de instrução dos pais. A qualidade de vida das famílias apresentou uma relação de influência bilateral com o desenvolvimento cognitivo dos pacientes. São apresentados, adicionalmente, resumos de dissertações orientadas pelo autor nos quais é evidenciada a possibilidade de aumento da complexidade do modelo de avaliação através do exame fonoaudiológico. A aplicabilidade do modelo de avaliação no estudo de outras malformações craniofaciais é também caracterizada...

The Apert Syndrome and Crouzon Syndrome are the most common syndromic craniosynostosis. They present as a target in their treatment an inter and multi-disciplinary approach to determine a good development and quality of life for these patients. The Apert Syndrome and Crouzon Syndrome are secondary to the gene mutation that codifies the fibroblast growth factor receptor and present as common characteristic the early closure of the cranial sutures that can determine high levels of intracranial pressure. Many factors are important to determine the final cognitive development of these patients. They can present a normal social life developing ali their intellectual potential as they can present an important retard in their development. The craniofacial surgery to decompress the brain, to ameliorate the esthetics craniofacial aspects and to allow respiratory benefits, is relevant to determine the global development. The brain malformations that can be absent unique or multiple are also presented as related to the cognitive development. The environment where these patients live and the familial integration are very important. We present the articles published by the author from 2004 to 2007 that present the different factors related to the cognitive development of patients with syndromic craniosinostosys and the social and educational aspects of the families presented are the most important factors. The quality of life of the families, are also correlated to the intellectual levei of the patients in a bidirectional aspecto Abstracts of two studies oriented by the author are also presented to show the possibility to expand the evaluation’s model with a speech and language examination. The applicability of the model to study another craniofacial abnormality is presented. As we confirm the utilization of a multidisciplinary model of evaluation with a systematic method we understood by a consistent way the cognitive development of patients with syndromic...