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Research

Is the effect of compulsory community treatment

We investigated whether a reduction of preventable deaths from physical disorders was mediated by better access to specialized medical procedures.

Research

Do hypertensive diseases of pregnancy disrupt neurocognitive development in offspring?

The current study sought to determine whether gestational hypertension and pre-eclampsia are associated with neurocognitive outcomes in middle childhood.

Research

The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study

This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.

Research

Hypoglycemia does not change the threshold for arousal from sleep in adolescents with type 1 diabetes

In adolescents with type 1 diabetes, hypoglycemia does not impair arousal from slow-wave sleep induced by an external auditory stimulus.

Parental origin of mutations

We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.

The range of expression of symptoms in girls and women with Rett syndrome

We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.

The diagnosis of autism in a female: could it be Rett syndrome?

We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.

The Natural History of Scoliosis in Females with Rett Syndrome

We described the occurrence of scoliosis in Rett syndrome, how it develops and how it is influenced by the individual's age, mutation type, and walking ability.

Family satisfaction with spinal fusion

Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.

Predictors of seizure onset in Rett syndrome

Many girls and women with Rett syndrome experience seizures. We wanted to know if there were any factors that influenced the age when seizures first developed.