Cardiac disease and Rett syndrome.

نویسندگان

  • M Acampa
  • F Guideri
چکیده

Rett syndrome (RS) is a neurodevelopmental disease,1 affecting approximately 1 in 10 000-15 000 females. Clinical severity of RS may vary with increasing age, following a four stage model.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report

Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...

متن کامل

Prolonged QT interval in Rett syndrome.

Rett syndrome is a severe neurodevelopmental disorder of unknown aetiology. A prolonged QT interval has been described previously in patients with Rett syndrome. To investigate QT prolongation and the presence of cardiac tachyarrhythmias in Rett syndrome electrocardiography and 24 hour Holter monitoring were performed prospectively in a cohort of 34 girls with Rett syndrome. The corrected QT va...

متن کامل

Is L-Carnitine an Effective Treatment to Improve the Quality of Life for Patients with Rett Syndrome?

Objective: To determine “Is L-carnitine an effective treatment to improve the quality of life for patients with Rett Syndrome?” Study Design: Review of all English language randomized controlled trials and cohort trials from 1999-2007. Data Sources: Randomized, placebo-controlled, double-blind crossover trial, randomized controlled trial, and cohort trial comparing L-carnitine to placebo or con...

متن کامل

Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder.

AIM To investigate breathing rhythm and brain stem autonomic control in patients with Rett disorder. SETTING Two university teaching hospitals in the United Kingdom and the Rett Centre, Sweden. PATIENTS 56 female patients with Rett disorder, aged 2-35 years; 11 controls aged 5-28 years. DESIGN One hour recordings of breathing movement, blood pressure, ECG R-R interval, heart rate, transcu...

متن کامل

Congenital Heart Disease in Children with Down syndrome in Kermanshah, West of Iran during 2002 - 2016

Background Down syndrome is the most common chromosomal anomaly. Dysmorphic features can occur in several organs in this syndrome. Cardiac anomalies with a prevalence of 50% are the most common anomalies responsible for death during the first two years of life. We aimed to determine the prevalence of cardiac anomalies among Down syndrome patients admitted to two tertiary hospitals in Kermanshah...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Archives of disease in childhood

دوره 91 5  شماره 

صفحات  -

تاریخ انتشار 2006