A síndrome de Worster-Drought (SWDS) é uma forma de paralisia cerebral caracterizada por paresia pseudobulbar congênita (suprabulbar) que se manifesta como fraqueza seletiva dos lábios, língua e palato mole, disfagia, disfonia, sialorréia e movimentos bruscos da mandíbula.
Introdução
O que você precisa saber de cara
A síndrome de Worster-Drought (SWDS) é uma forma de paralisia cerebral caracterizada por paresia pseudobulbar congênita (suprabulbar) que se manifesta como fraqueza seletiva dos lábios, língua e palato mole, disfagia, disfonia, sialorréia e movimentos bruscos da mandíbula.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
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Características mais comuns
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Genética e causas
O que está alterado no DNA e como passa nas famílias
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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🇧🇷 Atendimento SUS — Síndrome Worster-Drought
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Publicações mais relevantes
Worster-Drought syndrome with progressive symptomatic improvement in early infancy.
Worster-Drought syndrome (WDS), or congenital suprabulbar paresis, is characterised by congenital dysarthria, dysphagia and other pseudobulbar paresis without structural abnormalities around the Sylvian fissure on imaging. This rare syndrome is challenging to diagnose, particularly in preterm infants. This report describes a low-birth-weight female infant with WDS who had no sucking reflex from birth, airway obstruction due to saliva retention and muscle rigidity, who was diagnosed with the syndrome at a postconceptional age (PCA) of 1 month. She was discharged with only home oxygen therapy as respiratory support at a PCA of 3 months after gradual improvement in her clinical symptoms. Diagnosis of WDS is difficult in the early postnatal period in preterm cases owing to prematurity but should be suspected when bulbar palsy, including absence of the sucking reflex, persistent dysphagia and obstructed breathing, persists beyond a PCA of 40 weeks and when muscle stiffness is present.
YouTube as a Source of Patient Information for Cerebral Palsy.
Background/objectives: Social media has significantly enhanced access to medical knowledge by enabling rapid information sharing. With YouTube being the second-most popular website, we intended to evaluate the quality of its content as a source of information for patients and relatives for information about cerebral palsy. Methods: The first 30 videos for search terms "Cerebral palsy", "Spastic cerebral palsy", "Dyskinetic cerebral palsy", "Worster-Drought syndrome", and "Ataxic cerebral palsy" were selected for inquiry. Out of 150 films, a total of 83 were assessed with a mixed method approach by two independent raters utilizing evidence-based quality scales such as Quality Criteria for Consumer Health Information (DISCERN), the Journal of the American Medical Association instrument (JAMA), and the Global Quality Score (GQS). Furthermore, audience engagement was analyzed, and the Video Power Index (VPI) was calculated for each video. Results: The mean total DISCERN score excluding the final question (subjective assessment of the video) was 30.5 ± 8.7 (out of 75 points), implying that the quality of the videos was poor. The global JAMA score was 2.36 ± 0.57 between the raters. The mean GQS score reached 2.57 ± 0.78. The videos had statistically higher DISCERN scores when they included treatment options, risk factors, anatomy, definition, information for doctors, epidemiology, doctor as a speaker, and patient experience. Conclusions: YouTube seems to be a poor source of information for patients and relatives on cerebral palsy. The analysis can contribute to creating more engaging, holistic, and informative videos regarding this topic.
Repurposing a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness.
Medical students automatically couple rare illnesses with biomedical minutiae. Upon meeting CS (pseudonym), a 5-year-old boy with Worster Drought Syndrome, I became inadvertently caught in the trap of focusing on his diagnosis rather than CS as a patient. I fumbled around CS's past medical history by fervently asking about all the different types of seizures he was plagued by. It was only after CS's mother, TS (pseudonym), volunteered the psychosocial challenges she faced caring for CS that I realised the strong implicit bias I had towards biomedical aspects of patient care. I discovered that TS was robbed of being able to celebrate CS's developmental milestones, as they posed unique challenges with very serious risks. Having learned the extent of such psychosocial challenges, I searched to understand the origin of biases towards biomedicine, within myself and within the medical system. I attribute my own biases in part to the current state of medical education, which disproportionately focuses on the scientific, rather than psychosocial and humanistic factors. Systemically, there is a large commercial driving force behind scientific research into rare illnesses. The interest in rare illnesses displayed by pharmaceutical industries only after the incentivisation by various countries highlight the socio-political constraints that bind research in this field. These biases, along with the marginalisation of patients and families with rare illnesses, means there is a very real risk that the goals of all stakeholders are incongruous. As such, it is imperative that we give these patients and families a voice.
Worster-Drought Syndrome Associated With LINS Mutations.
Worster-Drought syndrome is a congenital, pseudobulbar paresis. There is no identified molecular etiology despite familial cases reported. The authors report a boy who was diagnosed with Worster-Drought syndrome due to longstanding drooling, dysphagia, and impaired tongue movement. Magnetic resonance imaging of the brain was unrevealing. At 14 years old, he remains aphonic with normal facial and extraocular movements. Nonsense mutations in the LINS gene, p.Glu366X and p.Lys393X, were found. Results from neuropsychological testing at 14 years old were consistent with a diagnosis of intellectual disability and revealed nonverbal reasoning skills at a 5-year-old level with relative sparing of his receptive vocabulary and visual attention. Compared to prior testing at 9 years old, his receptive language improved from a 6-year-old to an 8.5-year-old level. The authors report LINS mutations associated with Worster-Drought syndrome. This highlights that despite severe and persistent aphonia, receptive language improvements can be observed within the context of intellectual disability.
Management of a soft tissue tumor in a child with Worster Drought syndrome using 810 nm diode laser - A case report.
An out-patient surgical procedure in the paediatric age group is a tough task for a surgeon, more so when compounded with mentally challenging conditions like cerebral palsy. Every step involved, either administration of local anaesthesia or handling sharp surgical instruments around the face or achieving haemostasis, can be a challenge, with compromise on patient safety. Neither undue restraint nor general anaesthesia is advisable, considering the magnitude of the procedure. In such cases, a safe, rapid and effective technique that can be comfortably performed under topical anaesthesia without use of sharp instruments or needles would be an ideal option. The purpose of this paper is to highlight one such situation, where an intra-oral soft tissue tumor was safely and effectively ablated using diode laser, under topical anaesthesia in a child with cerebral palsy concurrent with Worster Drought syndrome. Topical anaesthesia provided adequate conditions to ablate the tumor. A bloodless field was achieved, with no need for sutures. The procedure was completed in less than half the time required for a conventional approach. Postoperative follow-up of 3 months showed complete healing with no recurrence. Portable diode lasers are an effective tool for minor oral surgical procedures in paediatric population especially, children who are mentally challenged.
Publicações recentes
YouTube as a Source of Patient Information for Cerebral Palsy.
Worster-Drought syndrome with progressive symptomatic improvement in early infancy.
Repurposing a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness.
🥇 Revisão sistemáticaWorster-Drought Syndrome Associated With LINS Mutations.
Management of a soft tissue tumor in a child with Worster Drought syndrome using 810 nm diode laser - A case report.
📚 EuropePMC19 artigos no totalmostrando 5
YouTube as a Source of Patient Information for Cerebral Palsy.
Healthcare (Basel, Switzerland)Worster-Drought syndrome with progressive symptomatic improvement in early infancy.
BMJ case reportsRepurposing a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness.
Orphanet journal of rare diseasesWorster-Drought Syndrome Associated With LINS Mutations.
Child neurology openManagement of a soft tissue tumor in a child with Worster Drought syndrome using 810 nm diode laser - A case report.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Worster-Drought syndrome with progressive symptomatic improvement in early infancy.
- YouTube as a Source of Patient Information for Cerebral Palsy.
- Repurposing a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness.
- Worster-Drought Syndrome Associated With LINS Mutations.
- Management of a soft tissue tumor in a child with Worster Drought syndrome using 810 nm diode laser - A case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3465(Orphanet)
- OMIM OMIM:185480(OMIM)
- MONDO:0008503(MONDO)
- GARD:5598(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q8037137(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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