The aim of this study was to describe the trajectory and the outcomes of speech-language therapy in Prader-Willi syndrome through a longitudinal study of the case of an 8 year-old boy, along four years of speech-language therapy follow-up. The therapy sessions were filmed and documental analysis of information from the child's records regarding anamnesis, evaluation and speech-language therapy reports and multidisciplinary evaluations were carried out. The child presented typical characteristics of Prader-Willi syndrome, such as obesity, hyperfagia, anxiety, behavioral problems and self aggression episodes. Speech-language pathology evaluation showed orofacial hypotony, sialorrhea, hypernasal voice, cognitive deficits, oral comprehension difficulties, communication using gestures and unintelligible isolated words. Initially, speech-language therapy had the aim to promote the language development emphasizing social interaction through recreational activities. With the evolution of the case, the main focus became the development of conversation and narrative abilities. It were observed improvements in attention, symbolic play, social contact and behavior. Moreover, there was an increase in vocabulary, and evolution in oral comprehension and the development of narrative abilities. Hence, speech-language pathology intervention in the case described was effective in different linguistic levels, regarding phonological, syntactic, lexical and pragmatic abilities.

https://www.scielo.br/pdf/jsbf/v23n1/v23n1a16.pdf

Trajectory and outcomes of speech language therapy in the Prader-Willi syndrome (PWS): case report

Cette etude vise a decrire les caracteristiques psychologiques, cognitives et comportementales d’individus presentant un syndrome de Prader-Willi (SPW) au cours de la petite enfance et de l’enfance. La population est constituee de 36 enfants âges de 2,5 a 15 ans, suivis regulierement par le centre de reference du SPW. Trois etudes prospectives sont presentees. La premiere decrit la prise en charge et la scolarite de ces 36 enfants, leurs competences cognitives et leurs comportements adaptatifs ainsi que les comportements connus comme problematiques chez les adolescents et les adultes SPW. L’ensemble de ces donnees sont etudiees de facon comparative entre les enfants de moins de 5 ans et ceux de plus de 6 ans. Nos resultats apportent un eclairage nouveau sur les caracteristiques de ces jeunes enfants SPW qui sont, en de nombreux points, differentes des descriptions issues des etudes retrospectives. La seconde etude transversale decrit les aptitudes des 27 enfants de plus de 6 ans a apparier, denommer et attribuer des emotions. Leurs performances sont comparees a celles d’enfants typiques apparies sur l’âge de developpement et sur l’âge chronologique. Les resultats de cette etude pionniere montrent que les enfants SPW ont des competences heterogenes pour identifier les emotions, il existe a la fois un effet de l’emotion et un effet de la tâche. Enfin, la derniere etude presente les resultats d’un suivi longitudinal de 4 ans pour 10 enfants. Les competences cognitives et les comportements adaptatifs sont ici decrits dans leur evolution, en precisant l’emergence de certains troubles du comportement.

/pdf/aspects-psychologiques-cognitifs-et-comportementaux-d-5clea60bi8.pdf

Aspects psychologiques, cognitifs et comportementaux d’enfants présentant un syndrome de Prader-Willi : étude transversale et étude longitudinale

A Sindrome de Prader-Willi (SPW) tem origem genetica, caracterizando-se por um quadro de hipotonia e disturbios endocrinos que resulta em dificuldades motoras, obesidade, deficit cognitivo, hiperfagia e deficiencia intelectual. Estudos tem descrito exames fisicos e laboratoriais para o diagnostico. Porem, sao poucos os estudos sobre intervencoes relatando melhora de qualidade de vida desses individuos. O presente estudo descreve um programa de intervencao precoce (PIP) realizado com um bebe com diagnostico de SPW, aplicado do 4o ao 24o mes. O Inventario Portage Operacionalizado foi utilizado durante o PIP, mostrando-se efetivo para avaliacao, planejamento e intervencao. Os resultados apontaram para um desempenho satisfatorio em quatro das cinco areas avaliadas, com necessidade de acompanhamento especializado na area de Linguagem. A boa adesao e responsividade materna mostraram-se fundamentais para o desenvolvimento do processo. Acompanhamento longitudinal mostrou-se eficiente e apontou para a necessidade de intervencoes especificas. Palavras-chave: educacao especial, Sindrome de Prader-Willi, intervencao precoce.

/pdf/relato-de-intervencao-precoce-acompanhamento-de-um-bebe-com-558dma6lsa.pdf

Relato de intervenção precoce: acompanhamento de um bebê com a Síndrome de Prader-Willi

Visceral leishmaniasis is a severe and potentially fatal vector-borne disease. The most typical symptoms are fever, hepatosplenomegaly, weight loss, bleeding and bacterial infections. Neurological changes are rarely reported. This paper describes a child who presented with neurological signs as the first symptoms of leishmaniasis; tone was diminished and tremors in the extremities were observed. A diagnosis of visceral leishmaniasis was confirmed by parasite detection in the bone marrow. Symptoms were reversed by specific treatment. The nature of a possible mechanism of neurological involvement in visceral leishmaniasis remains unexplained.

Case Report/Relato de Caso

The aim of this study was to describe the trajectory and the outcomes of speech-language therapy in PraderWilli syndrome through a longitudinal study of the case of an 8-year-old boy, along four years of speechlanguage therapy follow-up. The therapy sessions were filmed and documental analysis of information from the child’s records regarding anamnesis, evaluation and speech-language therapy reports and multidisciplinary evaluations were carried out. The child presented typical characteristics of Prader-Willi syndrome, such as obesity, hyperfagia, anxiety, behavioral problems and self aggression episodes. Speech-language pathology evaluation showed orofacial hypotony, sialorrhea, hypernasal voice, cognitive deficits, oral comprehension difficulties, communication using gestures and unintelligible isolated words. Initially, speech-language therapy had the aim to promote the language development emphasizing social interaction through recreational activities. With the evolution of the case, the main focus became the development of conversation and narrative abilities. It were observed improvements in attention, symbolic play, social contact and behavior. Moreover, there was an increase in vocabulary, and evolution in oral comprehension and the development of narrative abilities. Hence, speech-language pathology intervention in the case described was effective in different linguistic levels, regarding phonological, syntactic, lexical and pragmatic abilities.

/pdf/case-report-relato-de-caso-3l99rcpwg8.pdf

Case Report Relato de Caso

Material and method A cohort of 21 children (under 42 months of age) with Prader-Willi syndrome were followed in a longitudinal way by the referral center team with evaluation of language and cognitive function (every six months). Results Disorders seen between birth and the second year are primarily related to hypotonia with oropharyngeal dysphagia and impact on the pre-lingual phase of communication. After 2 years the psychomotor delay and the disorders of language acquisition effect development. When compared to patients who had treatment after 4 years and with data published in the literature, those patients with an early diagnosis and early treatment using kinesitherapy and logopedy showed faster linguistic acquisition. However articulation disorders still remain. Conclusion and recommendations This work highlights the importance of early readaptation associating kinesitherapy, logopedy and psychomotoricity which can improve the cognitive phenotype of these children.

P. Fichaux-Bourin

Papers

[Early education for children with Prader-Willi syndrome].