تجربیات زیسته یک مادر دارای کودک مبتلا به سندرم وردینگ هافمن: مطالعه موردی کیفی The Lived Experiences of the Mother of a Child with Werdnig-Hoffman Syndrome: A Qualitative Case Study (original) (raw)
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Aspectos da comunicação na síndrome de Werdning-Hoffman: estudo de caso clínico
Revista CEFAC, 2015
Resumo: A Síndrome de Werdnig-Hoffman é uma doença neuromuscular hereditária, caracterizada pela atrofia e fraqueza muscular progressiva, que inviabiliza o desenvolvimento de habilidades motoras. O desenvolvimento mental encontra-se preservado, vivacidade e inteligência destacam-se, em contraste à precária atividade motora. O sujeito acometido por essa síndrome tem limitações físicas para a efetiva interação com o outro, o que pode acarretar problemas de comunicação. Este estudo tem como objetivo analisar as possibilidades comunicativas de uma criança com Síndrome de Werdnig-Hoffman no decorrer do processo terapêutico fonoaudiológico. É um estudo de caso de uma criança com quatro anos de idade, gênero feminino, filha única (de casal jovem), atendida em terapia fonoaudiológica em centro de reabilitação de deficiências múltiplas no período de agosto de 2013 a abril de 2014. Na avaliação fonoaudiológica observou-se que a paciente comunica-se por expressões faciais e raras vocalizações....
Total Intravenous Anesthesia (TIVA) in an Infant with Werdnig-Hoffmann Disease. Case Report
Revista Brasileira De Anestesiologia, 2010
manual. O tempo cirúrgico foi de 150 minutos. O despertar ocorreu 8 minutos após o término da infusão, com ventilação espontânea. Duas horas depois foi transferida para unidade pediátrica e recebeu alta hospitalar no 4 o dia de pós-operatório. CONCLUSÕES: A escolha da técnica anestésica prioriza a segurança que advém da familiaridade do manuseio dos fármacos existentes. Em crianças com doenças neuromusculares, a anestesia venosa total com remifentanil e propofol em sistemas de infusão, pela duração de ação extremamente curta, pode influenciar a evolução da doença favoravelmente. Unitermos: DOENÇAS, Neurológica: atrofia muscular espinhal Tipo I (doença de Werdnig-Hoffmann); ANESTESIA, Geral: venosa. SUMMARY Resende MAC, Silva EV, Nascimento OJM, Gemal AE, Quintanilha G, Vasconcelos EM -Total Intravenous Anesthesia (TIVA) in an Infant with Werdnig-Hoffmann Disease. Case Report.
Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes
Journal of Medical Genetics, 1992
Werdnig-Hoffmann disease is a common autosomal recessive neuromuscular disorder that results in paralysis and death. No treatment to prevent this disease or to alter its unremitting course has been found. Recently, linkage analysis with cloned DNA probes has shown that the mutation causing Werdnig-Hoffmann disease is located on chromosome 5q12-ql4. We performed genetic analysis for the prenatal diagnosis of Werdnig-Hoffmann disease in seven at risk families. Two fetuses were diagnosed as being affected and the remainder as unaffected, and this was confirmed after birth. This study shows that prenatal diagnosis of Werdnig-Hoffmann disease has become feasible. Unite de Recherches sur les Handicaps GE6ntiques de l'Enfant, INSERM U-12, Hopital des Enfants-Malades, 149
The Journal of Neurological and Neurosurgical Nursing
Introduction. The Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by a wide spectrum of symptoms i.a. umbilical hernia or omphalocele, macroglossia and above-average pre/postnatal growth (macrosomia). Aim. To present a case report of a child with BWS who underwent an early logopedic intervention and rehabilitation procedures including Bobath neuro-developmental treatment (NDT) and orofacial stimulation based on the Castillo-Morales concept (CMC). Case Report. The paper presents a case of a girl with BWS and the course of her psychomotor development during the 24 months of her life. The child has numerous defects typical for this syndrome, i.e. facial dysmorphism, macrosomia, and significant hypertrophy of the tongue as well as embryonal carcinomas such as hepatoblastoma and neuroblastoma. Psychomotor development was assessed at the age of 12 months using the Munich Functional Developmental Diagnostics (MFDD). At the age of 2, development of fine and gross motor skills and independence level do not differ significantly from the norm. The biggest problem concerns verbalization of needs due to the enlarged tongue. The girl still remains under multidisciplinary team care and is intensively rehabilitated. Discussion. There is no doubt that the care of children with BWS requires an interdisciplinary team of specialists. The child needs not only proper physical development, but also correct interpersonal relationships built on verbal communication. Therapy should be started as early as possible before bad habits develop. Conclusions. The knowledge of clinical features characteristic for the syndrome allows for rapid diagnosis and providing interdisciplinary care since the moment of birth. Children with BWS develop in individual ways depending on the type of genetic cause and additional defects. The care of BWS children must involve permanent and interdisciplinary cooperation with many specialists.
ACC Journal
Williams Syndrome (WS) is a rare neurodevelopmental disorder based on a gene loss on chromosome 7, which occurs in 1 of 7,500 live births. The WS phenotype is typically associated with moderate mental disability, cardiac problems, hyper social behavior, anxieties, and a need for lifelong support. Current research focuses mainly on clinical characteristics, thus providing important implications for medical management. Parents, therapists and professional caregivers are able to find very few usable implications for everyday-life challenges though. The authors aim to raise research questions and help to bridge this gap in the long term. Therefore they are engaged in building a competence center for WS at the University of Applied Sciences Zittau/Görlitz (HSZG). This article outlines the starting point and main idea, as well as completed, ongoing and planned scientific and supportive activities.
Analysis of variability of clinical manifestations in Waardenburg syndrome
American Journal of Medical Genetics, 1995
Expression of clinical findings of Waardenburg syndrome type 1 (WS1) and type 2 (WS2) is extremely variable. Using our collection of 26 WS1 and 8 WS2 families, we analyzed the occurrence, severity, and symmetry of clinical manifestations associated with WS. We found significant differences between WS1 and WS2 in deafness, and in pigmentary and craniofacial anomalies. Factor analysis was used to identify manifestations which covaried, resulting in 2 orthogonal factors. Since mean factor scores were found to differ when compared between WS1 and WS2, we suggest that these factors could be useful in distinguishing WS types. We found that the WS gene was transmitted from mothers more often than from fathers. We also extensively examined the W-Index, a continuous measure of dystopia canthorum. Our data suggest that use of the W-Index to discriminate between affected WS1 and WS2 individuals may be problematic since 1) ranges of W-Index scores of affected and unaffected individuals overlapped considerably within both WS1 and WS2, and 2) a considerable number of both affected and unaffected WS2 individuals exhibited W-index scores consistent with dystopia canthorum. Misclassification of families may have implications for risk assessment of deafness, since WS2 families