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Gross Motor Profile in Rett Syndrome as Determined by Video Analysis

This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...

Rare childhood diseases: how should we respond?

Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...

The effects of maternal smoking on early mucosal immunity and sensitization at 12 months of age

In this study, we examined the effects of maternal smoking as a major adverse exposure in early life, on mucosal immune function and allergen sensitization...

Assessment of the potency and potential immunomodulatory effects of the Measles Mumps Rubella-Varicella vaccine in infants

This study compared the potency and immunomodulatory effects of measles mumps rubella (MMR) vaccine given to infants alone or in combination with varicella...

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...

The broader language phenotype of Autism: A comparison with Specific Language Impairment

Some individuals with autism spectrum disorders (ASD) experience linguistic difficulties similar to those found in individuals with specific language...

Seizures in Rett syndrome: an overview from a one-year calendar study

Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...

A DTPa-HBV-IPV vaccine for primary vaccination of infants

Combined vaccines have an increasingly important role to play in delivering these antigens acceptably.

Sleep problems in Rett syndrome

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

Valproate and risk of fracture in Rett syndrome

This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.