Prader-Willi syndrome (PWS) is a genetic disorder caused by a deletion of genes in region 15q11-13. It is associated with intellectual disability and unwieldy neurobehavioral alterations. The aim of the study was to compare behavior problems of two groups of children and adolescents with PWS considering the possibility of free or restricted access to food at home. The sample was composed of 12 children and adolescents with cytogenetic-molecular diagnosis of SPW (6 in each group) and their mothers. Children and adolescents had their body weight recorded and the Child Behavior Checklist for ages 6-18 years old (CBCL/6-18) was answered by the mothers. The groups presented statistically significant differences related to problems of anxiety and depression, violation of rules and defiance and opposition. The group with restricted access to food presented more behavioral problems.

Restrição alimentar e problemas de comportamento de crianças com Síndrome de Prader-Willi

BACKGROUND: describe and analyze the effects of the speech-language work in the Kitchen Workshop on the therapeutic processes of a patient with Prader-Willi syndrome. PROCEDURES: the research is a clinical case study on one child, 5-year old, with Prader-Willi Syndrome, with a delay in speech and feeding problems. The child took part during seven months of the therapeutic process in Kitchen Workshop, associated with individual speech therapy. The clinical material was recorded systematically in writing throughout each one of the sessions. RESULTS: the studied case ameliorated his myo-functional oral functioning and language, such as: organizing his chewing ability and gaining autonomy of discourse. Assuming the inseparability between the organ and the psychic, the child, that showed definite organic marks, could benefit from the potential of the Kitchen Workshop. CONCLUSION: the Kitchen Workshops, under the position of a therapeutic speech-language method, showed the relevance of the biopsychic articulation in the treatment of patients whose organic marks determined limits and specifics to acquisition and circulation in the language, as in this case of Prader-Willi Syndrome.

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Trabalho fonoaudiologico em oficina de cozinha em um caso de Prader-Willi

Background: Prader-Willi syndrome (PWS) is a genetic disorder caused by the lack of the paternal contribution of Chromosome 15q11.2-q13.2 region. It is associated with global developmental delays, including speech and language delay. There is no information regarding the prevalence of apraxia of speech in this syndrome, despite the fact that it is often recognized clinically. In this study, we sought to investigate the prevalence of apraxia in children with PWS and speech and language delay. Methods: Thirty children with genetically confirmed PWS, ages 22 months to 9 years of age, were evaluated by a certified speech-language pathologist due to physician concerns about speech and language development. Children were assessed by a variety of tests based on their age. Results: Sixteen children had receptive language deficits and 18 had expressive language deficits. Fourteen of the thirty children (47%) had results on evaluation that were consistent with apraxia, of which 57% were male, and 71% (p<0.001) had deletion-type PWS. Conclusion: As expected, children with PWS who are referred for concerns about speech and language development are commonly found to have receptive and expressive language deficits. However, there was a high prevalence of apraxia in our patients, which has not previously been reported in this population. We recommend that children with PWS be evaluated for apraxia by a speech-language pathologist once their expressive language skills are developed enough for speech assessment. The diagnosis of apraxia will necessitate specific speech therapy techniques which may not otherwise be used for individuals with this syndrome, thus resulting in more severe and prolonged speech delays.

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Speech and Language Issues in Children with Prader-Willi Syndrome

/pdf/restricao-alimentar-e-problemas-de-comportamento-de-criancas-316rxuls20.pdf

Restrição alimentar e problemas de comportamento de crianças com Síndrome de Prader-Willi. Dietary restriction and behavioral problems of children with Prader Willi syndrome.

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TRABALHO FONOAUDIOLÓGICO EM OFICINA DE COZINHA EM UM CASO DE PRADER-WILLI Kitchen workshop on the speech-language therapeutic processes of a patient with Prader-Willi syndrome

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

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

Melina Pavini Cristovão

Papers

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

Case Report Relato de Caso