Research Snapshots

Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.

 

 

Communication

 

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

Speech and language abilities are almost always severely affected in girls and women with Rett syndrome and often lost during the period of regression. This study explored relationships between speech and language abilities in girls with Rett syndrome and how they may be affected by the type of genetic mutation. Read more... 

 

 

Parental perspectives on the communication abilities of their daughters with Rett syndrome

Girls and women with Rett syndrome find it difficult to communicate
using typical methods such as talking. To better understand how females with Rett syndrome communicate and what factors act as barriers to thier everyday communication we interviewed 17
parents with a daughter with Rett syndrome. Read more...

 

 

Genotype and clinical patterns

 

Parental origin of mutations

Our findings suggest a parental-gender influence on mutation types which has also been observed in X-linked Duchene Muscular Dystrophy. Male mutation bias is a known phenomenon that is likely due to the fact that spermatogenesis is ongoing in the male with sperm undergoing more cell divisions and thus more susceptible to mutations than oocytes which are fully developed at the time of female birth. Read more...

 

 

Atypical presentations

There is often a delay between the time when the symptoms of Rett syndrome first appear and when a diagnosis of Rett syndrome is made. We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome. Read more...

 

 

Behaviour and mutation type

Common behaviours which occur in girls and women with Rett syndrome include hand stereotypies, breathing abnormalities, sleeping difficulties, teeth-grinding and night laughing among others. It is possible that these behaviours may be related to the type of mutation that these girls have. Eight common mutation groupings which are found in Rett syndrome are p.T158M, p.R168X, p.R294X, p.R270X, C-terminal deletions, p.R133C, p.R306C, p.R255X. Read more...

 

 

Clinical severity and X-chromosome inactivation

Girls and women with Rett syndrome can be quite different from one another even though they might be the same age and have the same type of mutation. It is believed that this might be due to inactivation of one of the X-chromosomes in each cell. Read more...

 

 

Altered attainment of developmental milestones

Regression, including the loss of previously learned skills, such as hand function and communication skills, is one of the most suggestive features of Rett syndrome. These symptoms often first appear when the child is about 18 months of age. However early development of the girls prior to this age can be variable. Read more...

 

 

Investigating genotype - phenotype relationships in Rett syndrome using an international database.

Rett syndrome is a rare neurodevelopmental disorder caused by mutations in the MECP2 gene. There is considerable variation in the clinical features likely to be related to the type of mutation affecting the individual person. This study used information from an international Rett syndrome database to investigate the relationship between clinical characteristics and different mutation types. Read more...

 

 

Large deletions of the MECP2 gene

Recently, a new genetic testing technique has allowed the detection of a mutation called a large deletion which is where a part of the MECP2 gene is deleted. A large deletion can be associated with clinical signs of Rett syndrome. Read more...

 

 

Refining the phenotype of common mutations

Since Rett syndrome was first described, there has been much commentary about the range of expression of symptoms in Rett syndrome, including atypical forms of the condition. In 1999, mutations in the MECP2 gene were first associated with Rett syndrome. Since then, there has been considerable research examining the relationship between the expression of symptoms and type of MECP2 mutation. Read more...

 

 

Updating the profile of C-terminal MECP2 deletions

A number of individual and groups of mutations in the MECP2 gene are associated with Rett syndrome. C-terminal deletions are a group of relatively small deletions of part of the MECP2 gene near one of the ends (the C-terminal end). They affect a small proportion (6-14%) of girls and women with Rett syndrome. Because these deletions occur at the 'end' of the gene, most of the gene is functioning normally, and so it was thought that those who have these mutations may have milder symptoms. Read more...

 

 

Rett syndrome and health

 

 

Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype

Sleep problems are known to occur in Rett syndrome and can have a significant impact on the affected child and the family. We investigated how common they were and whether or not some girls and women were more at risk than others in a large international sample of individuals with Rett syndrome. Read more...

 

 

A validation study of a modified Bouchard activity record

Engagement in physical activity, such as walking, is important for individuals with disabilities, particularly for the development and maintenance of motor skills. We compared parent/carer-reported physical activities with the number of steps counted by an accelerometer in girls and women with Rett syndrome.   Read more... 

 

 

Gastrointestinal dysmotility in Rett syndrome

Disorders of gastrointestinal (GI) motility [movement of food through the body] are common in Rett syndrome and can severely impact quality of life. Little is known about their management in Rett syndrome. Read more...

 

 

Assessment and management of nutrition and growth in Rett syndrome 

Many girls with Rett syndrome have problems with their growth and this may continue into adulthood. Several factors may be contributing to poor growth, including feeding difficulties such as difficulties with chewing and swallowing. Read more...

 

 

Experience of gastrostomy using a quality care framework: The example of Rett syndrome

Females with Rett syndrome often have feeding difficulties. We investigated our data from family questionnaires to see how feeding difficulties related to age, the type of MECP2 mutation, and the use of gastrostomy. Read more...

 

 

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

Rett syndrome was first recognised by Dr. Andreas Rett in 1966 and first published in the English literature in 1983. Although there are a set of symptoms that are required for a child to be diagnosed with Rett syndrome, there is variability in the expression of symptoms. We wanted to describe this range of expression of symptoms in girls and women with Rett syndrome. Read more...

 

 

Feeding experiences and growth status in a Rett syndrome population

Due to a variety of factors girls and women with Rett syndrome often have feeding difficulties and inadequate growth. Read more...

 

 

Linking MECP2 and pain sensitivity

Girls and women with Rett syndrome may have altered sensitivity to pain. We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life. We also investigated how pain sensitivity related to specific MECP2 mutations. Read more...

 

 

Physical and mental health of mothers caring for a child with Rett syndrome

There is some evidence to suggest that caring for a child with a disability can affect mental and physical health of mothers. The reasons that some mothers cope better with stress than others is not clear. Read more...

 

 

Sleep problems in Rett syndrome

Children with developmental problems often experience sleep difficulties and in Rett syndrome there appear to be some specific sleep-related problems. However there has been little information  on how common these sleep problems are and whether they are associated with any particular factors. Read more...

 

 

Survival with Rett syndrome

Dr Andreas Rett first described Rett syndrome in 1966 in a group of 22 girls. Since then, there have been many advances in medicine and in our understanding of Rett syndrome. Therefore, we wanted to investigate if there have been any changes over time in the life expectancy of girls and women with Rett syndrome. Read more...

 

 

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

Many girls with Rett syndrome initially show autistic-like symptoms and therefore, may be diagnosed with infantile autism. Autism is one of the most common misdiagnoses in Rett syndrome. Read more...

 

 

Quality of life

 

 

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

 

Quality of life refers to how satisfied a person is with their life experiences. Children with Rett syndrome have unique life experiences and therefore this study explored quality of life in school-aged children with Rett syndrome. Read more...

 

 

Functional abilities

 

 

Stereotypical hand movements

Stereotypies are involuntary, repetitive and seemingly meaningless movements. Hand stereotypies such as wringing or clapping are one of the most recognised features of Rett syndrome. We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other. We also investigated relationships between hand stereotypies, age and specific MECP2 mutations. Read more...

 

 

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

Loss of hand function is one of the characteristic features of Rett syndrome. In this study, we developed a measure of hand function and then investigated the relationships between hand function, type of MECP2 mutation, age and severity of symptoms. Read more...

 

 

Longitudinal hand function in Rett syndrome

Loss of hand function is one of the major features of Rett syndrome. Video is ideally suited to capturing daily function from anywhere in Australia and to show function in everyday settings. Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes. Read more...

 

 

Bone health

 

 

Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence

Low bone density or osteopenia is a frequent problem in Rett syndrome and as a result girls and women with Rett syndrome are at increased risk of bone fracture. In order to help doctors and families reduce the risk of fractures in their patients and children, we developed clinical guidelines for managing bone health in Rett syndrome. Read more...

 

 

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors

Early studies have shown low bone mass and bone density in females with Rett syndrome. Sometimes children as young as three or four years old have low bone density, with even greater reductions in bone mass and density observed in older individuals, consequently impacting their risk of fracture. This study measured changes in bone density over time using dual energy x-ray absorptiometry (DEXA). Lean tissue or muscle mass (LTM) was also measured. We then investigated the effects of age, genotype, mobility, menstrual status and epilepsy on bone and muscle. Read more...

 

 

Early determinants of fractures in Rett syndrome

We have previously shown that girls and women with Rett syndrome are at an increased risk of fracture. We now wanted to compare the frequency of fracture episodes in females with Rett syndrome with that in the general population. We also wanted to examine factors associated with having a fracture in those with Rett syndrome. Read more...

 

 

Bone mineral content and density in Rett syndrome

Girls and women with Rett syndrome are at an increased risk of having a fracture. The risk of having a fracture has been shown to be strongly linked to bone mass and density.  We therefore wanted to assess bone mineral content and bone mass density in girls and women in our Australian study. We also wanted to investigate whether specific MECP2 mutations, epilepsy, body mass index, onset of puberty and mobility level had any influence on bone mineral content, bone mass or density. Read more... 

 

 

Scoliosis

 

 

Family satisfaction following spinal fusion in Rett syndrome

Spinal fusion is a complex surgical procedure and it can be challenging for families to decide whether or not to proceed with the surgery. This study evaluated families' satisfaction following spinal fusion in girls with Rett syndrome. Read more...

 

 

 

Family satisfaction with spinal fusion

Scoliosis occurs commonly in Rett syndrome. The surgical procedure of spinal fusion may be recommended to families if their daughter's scoliosis is progressive. Read more...

 

 

Predictors of scoliosis in Rett syndrome

Scoliosis refers to a curvature of the spine and it is common in girls and women with Rett syndrome. In this study, we examined factors that might influence the development of scoliosis. Read more...

 

 

Parental experiences of scoliosis management

Scoliosis is the most common orthopedic issue for girls and women with Rett syndrome. In this study, we investigated what parents thought about the different ways scoliosis can be managed and what parents thought they needed to help them better manage their daughter's scoliosis. Read more...

 

 

Impact of scoliosis surgery on daily living

Scoliosis occurs commonly in girls and women with Rett syndrome and severe scoliosis can be treated with spinal fusion. We wanted to examine the effects of this surgery on the functional abilities of girls and women with Rett syndrome. Read more...

 

 

Seizures

 

 

Using a large international sample to investigate epilepsy in Rett
syndrome

Seizures occur commonly in Rett syndrome. Studies have shown that the type of MECP2 mutation is likely to influence the development of epilepsy. Using a large  sample size, we investigated the relationships between epilepsy and genotype, and  the impact of medications used on seizure management. Read more...

 

 

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. Read more...

 

 

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

About 80% of girls with Rett syndrome have seizures, which can impact greatly on the lives of girls with Rett syndrome and their families. Little is known abut the frequency of seizures, how they relate to genetic characteristics and how they respond to medications. Read more...

Further information

For full publications details see our publication list