Estudio del síndrome de Rett en la población española

Marfá, Mercedes Pineda; Martínez, Mª Asunción Aracil; Bori, Ana María Vernet; Espada, M.; Cobo, Enrique A. Roca; Morón, Rafael Arteaga; Pallarés, Josep Artigas; Barrionuevo, Carlos López; González, Lario; Molla, Renel; Caballero, J.; Cabrera, José Luis Bravo; Plana, Jaume Campistol; Castelló, Jaime Campos; Fernández, Carlos Casas; Castelló, Montserrat; Gago, Manuel Castro; Castroviejo, Ignacio Pascual; Oferil, J. Colomer; Delgado, P.; Fernández, Virginia Pérez; Jiménez, Arias; Álvarez, Emilio; Aymerich, Judith García; Campillo, Álvaro; Pérez, Asunción García; Jover, JA; Hernandez, Valentina; Fernández, José Luis Herranz; Herrera, Myriam; López, Diego Mora; Delgado, Fernando Mulas; García, Juan Narbona; Barrera, Manuel Nieto; Fabregas, Ma Teresa Lartigau; Martín, V. López; Pisón, Javier López; Hurtado, Isabel Lorente; Ortiz, Astrid; Luaces, Rafael Palencia; P, Poo Argüelles; Viñas, José María Prats; Jiménez, Rosario Domingo; Rayo, C.; Barrionuevo, Adriana; Costa, Trinidad Rodríguez; Quilis, Manel Roig; Valiente, Santiago; Fitó, A. Sans i; Borbujo, José Ramiro Santos; Vilaplana, Francesc X Sanmartí; Tena, Jesús García; Uganda, A.; Sanahuja, Ramon

doi:10.33588/rn.2801.98359

Cited by 3 publications

(1 citation statement)

References 11 publications

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“…The prevalence of RS is estimated to vary around 1/15,000 of newborn females in all ethnic groups). [7]. Over 95 % of individuals with RTT have mutations in methyl-CpG-binding protein (MECP2), a gene on Xq28, which encodes a transcriptional regulator [8].…”

Section: Introductionmentioning

confidence: 99%

"Treatment for Anxiety and Future Treatments in Rett Syndrome"

Pineda

2024

BJSTR

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Introduction: Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene that mainly affects females and few males. The prevalence of RS is estimated around 1/15,000 of newborn females. The progressive appearance of the signs and symptoms of RTT has been classified in four stages. The evolution of the clinical symptomatology and severity is individual depending on the age of onset and type of mutation. Anxiety-like behavior is frequent at all ages and is a significant parental concern in RTT. Anxiety leads to more irritability, stereotypes, repetitive rocking and great discomfort for the RTT patients. There is no curative treatment nor one specific therapy for anxiety. Alterations of hypothalamic pituitary adrenal (HPA) axis function seem to have a very important role in anxiety. Our objective is to look through all pharmacotherapy, supplementary diets existing up to-day that have been investigated or used. We review all the trials published, drugs that can be useful, reducing anxiety and added our own experience. Gene therapy can be a curative treatment and 2 trials will start very soon. Our aim is to help clinicians and caregivers to understand and give more quality of life to patients with this rare disease.

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Section: Introductionmentioning

confidence: 99%

"Treatment for Anxiety and Future Treatments in Rett Syndrome"

Pineda

2024

BJSTR

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Complicaciones neurológicas de la enfermedad celíaca

Velasco

García

2006

Medicina Clínica

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Oral health in a group of patients with Rett syndrome in the regions of Valencia and Murcia (Spain): A case-control study

Fuertes-González¹,

Silvestre²

2014

Med Oral

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Objectives: Rett syndrome (RS) is a rare disease with oral manifestations that have not been described in detail or in a standardized manner in the literature. The present study describes the oral health of the population with RS in two Spanish regions, following the protocol of the World Health Organization for conducting common oral health surveys. Study Design: A prospective, observational case-control study was carried out, involving a group of patients with RS (n1=41) and a mean age of 13.37±3.19 years, and an age- and gender-matched control group without RS (n0=82). The data referred to oral health and habits were recorded by means of a questionnaire and oral examination was used to document caries indicators (prevalence of caries, df(t), df(s), DMF(T), DMF(S) and indices referred to dental loss, morbidity, restoration), the Community Periodontal Index (CPI), and the most characteristic oral manifestations. Results: The most frequent oral habit in the patients with RS was diurnal bruxism, followed by stereotyped tongue movements and oral breathing. The caries scores were lower in the RS population than in the control group, but patients with RS showed greater periodontal alterations and a greater prevalence of drooling, dental wear, high-arched palate and anterior open bite. Conclusions: The population with RS exhibits characteristic and early oral habits and alterations, and periodontal problems that are more notorious than caries disease, so that our efforts should focus on the diagnosis and early correction of the parafunctional habits, promoting restorative treatment, and providing instructions on correct oral hygiene. Key words:Rett syndrome, oral habits, bruxism, caries.

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Estudio del síndrome de Rett en la población española

Cited by 3 publications

References 11 publications

"Treatment for Anxiety and Future Treatments in Rett Syndrome"

"Treatment for Anxiety and Future Treatments in Rett Syndrome"

Complicaciones neurológicas de la enfermedad celíaca

Oral health in a group of patients with Rett syndrome in the regions of Valencia and Murcia (Spain): A case-control study

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