Verificação da eficiência da abordagem terapêutica miofuncional em casos de desvio fonológico, fonético e fonético-fonológico Efficiency of myofunctional therapy in cases of phonological, phonetic and phonetic-phonological disorders

TEMA: o tema desta pesquisa é o uso da terapia miofuncional em casos de desvios fonético e/ou fonológicos. PROCEDIMENTOS: foram incluídos sujeitos, de ambos os sexos, com idades entre seis e 13 anos, que apresentassem desvio fonético-fonológico, e alterações do sistema estomatognático, com idade mínima de quatro anos. Considerou-se como critério de exclusão a presença de malformações, síndromes genéticas, suspeita de alterações neurológicas, déficit cognitivo ou psicológico, perda auditiva, diagnóstico de atraso de linguagem, terapia fonoaudiológica anterior, e alterações oclusais. Realizou-se anamnese, avaliação do sistema estomatognático, exame articulatório, triagem auditiva e avaliação otorrinolaringológica. Com os sujeitos selecionados, foram realizados dois atendimentos semanais, de terapia miofuncional. Realizaram-se sondagens a cada oito sessões de atendimento. Foram comparados o número de fones/fonemas da fala e estruturas/aspectos do sistema estomatognático alterados antes e depois da terapia miofuncional, comparação entre os sujeitos em relação ao tempo de terapia de acordo com a alteração de fala apresentada, comparação entre os grupos quanto ao número de fones/fonemas e aspectos os sistema estomatognático alterados antes e depois da terapia miofuncional. RESULTADOS: os sujeitos com desvio fonológico apresentavam entre um e quatro fonemas alterados, os sujeitos com desvio fonético apresentavam um fone alterados; já os sujeitos com desvio fonético-fonológico apresentavam cinco e seis fones/fonemas alterados, respectivamente. Os casos de desvio fonológico e fonético tiveram a fala adequada. Um dos sujeitos com desvio fonético-fonológico teve a fala adequada, e o outro permaneceu com um fone alterado. CONCLUSÃO: a terapia miofuncional demonstrou-se eficiente em casos de desvios fonético e/ou fonológicos.<br>BACKGROUND:the use of myofunctional therapy in cases of phonetic and/or phonological disorders. PROCEDURES: we included subjects being six and 13 year old, both genders, with phonetic and/or phonological disorders, and stomatognathic system alterations. We considered an exclusion criterion the presence of malformations, genetic syndromes, suspected neurological, psychological or cognitive impairment, hearing loss, diagnosis of language delay, speech therapy before, and malocclusion. Were held anamnesis, evaluation of the stomatognathic system, articulatory examination, hearing screening and othorrinolaringological evaluation. We held two therapy weekly. Surveys were carried out every eight sections. We analyzed the comparison between the number of speech sounds and features/structures of the stomatognathic system alterations before and after such therapy, and also the comparison between subjects in relation to length of therapy according to the found speech disorder. RESULTS: the subjects with phonological disorder showed between one and four alerted phonemes, the subjects with a phonetic deviation showed one altered phoneme, but the subjects with a phonetic-phonological deviation had five to six altered phones/phonemes, respectively. The cases of phonological and phonetic deviation had proper speech. One of the subjects with a phonetic-phonological deviation had proper speech, and the other showed an altered phone. CONCLUSION: myofunctional therapy was efficient in cases of phonetic and/or phonological deviations

The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome.

International audienceTrisomy 21 or Down syndrome is a chromosomal disorder resulting from the presence of all or part of an extra Chromosome 21. It is a common birth defect, the most frequent and most recognizable form of mental retardation, appearing in about 1 of every 700 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who reported its clinical description in 1866. The suspected association of Down syndrome with a chromosomal abnormality was confirmed by Lejeune et al. in 1959. Fifty years after the discovery of the origin of Down syndrome, the term "mongolism" is still inappropriately used; persons with Down syndrome are still institutionalized. Health problems associated with that syndrome often receive no or little medical care, and many patients still die prematurely in infancy or early adulthood. Nevertheless, working against this negative reality, community-based associations have lobbied for medical care and research to support persons with Down syndrome. Different Trisomy 21 research groups have already identified candidate genes that are potentially involved in the formation of specific Down syndrome features. These advances in turn may help to develop targeted medical treatments for persons with Trisomy 21. A review on those achievements is discussed