Study finds clinical severity in Rett syndrome increases with age

Two women

Rett syndrome is a neurological disorder mainly affecting females which although present from birth, may remain undetected until around one year of age. Many people with Rett syndrome have a mutation on the MECP2 gene on the X chromosome. The authors of this study were interested in describing the Rett syndrome behavioural phenotype by using [read the full story…]

Review of behavioural phenotypes identifies trends across lifespan


The researchers in this review set out to look at the complexity of the relationship between the genotype (genetic makeup) and phenotype (physical characteristics) and to stress the need for a greater understanding of behavioural phenotypes in genetic syndromes. The specific focus was on the developmental trajectory of behavioural phenotypes as individuals move from childhood [read the full story…]

Focus on behavioural problems of adults with Prader-Willi syndrome identifies need for longitudinal studies.


This study looked at the behavioural phenotype of people with Prader-Willi syndrome and the relationship between behavioural problems and age groups, genetic subtypes and BMI categories. It found statistically significant differences between age groups and between genetic subtypes but none in different BMI categories. The authors suggest that special attention should be paid to behavioural [read the full story…]