This study compared the behaviour profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome Behaviour Questionnaire (RSBQ) then examined behavioural patterns as measured by the RSBQ by genetic status. There were 145 Australian cases meeting the criteria for the first arm of the study and 135 for the second arm. Comparison of the scores obtained from the British and Australian cohorts indicated that the RSBQ was a satisfactory measure for describing behaviours in Rett syndrome (RS). Overall, there were some differences amongst the behaviour patterns of cases with the well-known common mutations. Fear/anxiety was more commonly reported in those with R133C and R306C. Those with the R...
Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pa...
There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to ...
Rett syndrome is a severe neurodevelopmental disorder affecting girls, caused by mutations in the ME...
The purpose of this thesis was to determine whether there is a specific behavioural phenotype associ...
Although physical features, including loss of hand skills, deceleration of head growth, spasticity a...
PURPOSE/METHOD: There is increasing agreement that many genetic disorders have characteristic behavi...
Rett syndrome (RTT) is a rare genetic disorder within the autistic spectrum. This study compared soc...
Background: Rett syndrome is a neurodevelopmental disorder mostly affecting females and caused by mu...
As part of a wider study to investigate the behavioral phenotype of a national sample of girls and w...
The study was designed to (i) investigate the behavioural characteristics of individuals with Rett ...
As part of a wider study to investigate the behavioral phenotype of a national sample of girls and w...
The early developmental history prior to the manifestation of Rett syndrome features is of clinical ...
As part of a wider study to investigate the behavioral phenotype of a national sample of girls and w...
Rett syndrome (RTT) is a neurodevelopmental disorder impacting 1 in 10,000 females worldwide, making...
Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurodevelopmental disorder leading to cogn...
Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pa...
There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to ...
Rett syndrome is a severe neurodevelopmental disorder affecting girls, caused by mutations in the ME...
The purpose of this thesis was to determine whether there is a specific behavioural phenotype associ...
Although physical features, including loss of hand skills, deceleration of head growth, spasticity a...
PURPOSE/METHOD: There is increasing agreement that many genetic disorders have characteristic behavi...
Rett syndrome (RTT) is a rare genetic disorder within the autistic spectrum. This study compared soc...
Background: Rett syndrome is a neurodevelopmental disorder mostly affecting females and caused by mu...
As part of a wider study to investigate the behavioral phenotype of a national sample of girls and w...
The study was designed to (i) investigate the behavioural characteristics of individuals with Rett ...
As part of a wider study to investigate the behavioral phenotype of a national sample of girls and w...
The early developmental history prior to the manifestation of Rett syndrome features is of clinical ...
As part of a wider study to investigate the behavioral phenotype of a national sample of girls and w...
Rett syndrome (RTT) is a neurodevelopmental disorder impacting 1 in 10,000 females worldwide, making...
Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurodevelopmental disorder leading to cogn...
Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pa...
There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to ...
Rett syndrome is a severe neurodevelopmental disorder affecting girls, caused by mutations in the ME...