Date of Award


Document Type



Edith Cowan University

Degree Name

Bachelor of Science Honours


Faculty of Computing, Health and Science

First Supervisor

Dr Sonya Girdler

Second Supervisor

Dr Jenny Downs

Third Supervisor

Dr Helen Leonard


Objective: To explore research relevant to an understanding of gross motor abilities and highlight possible directions for gross motor intervention in girls and women with Rett syndrome. A secondary objective was to describe mouse model research which has the potential to add to an understanding of gross motor abilities in this population. Methods: Electronic searches of five databases, manual searches of an external resource library and manual searches of reference lists were undertaken. The key words imputed during these searches included; mobility, Rett syndrome, functioning, mouse model, therapy and intervention. Search terms were truncated, exploded and adjusted to achieve optimum results. A narrative review was possible. Results: The searches of the literature yielded research which will be discussed under the headings; phenotype-genotype correlations, gross motor functioning, therapy interventions, involving both gross motor interventions in girls and women with Rett syndrome and mouse model research. The research found that most girls/women with Rett syndrome can sit independently, approximately half can walk and many have difficulties with transitional movements. More complex gross motor skills, such as transitions, walking on a slope and stepping over an obstacle, have been highlighted as especially difficult for this population. Video analysis is an emerging methodology in this area and has the potential to ·provide better observational data, to measure change, investigate gross motor abilities and evaluate the effectiveness of gross motor interventions. Mouse model research has investigated environmental enrichment as a treatment paradigm resulting in amelioration of gross motor deterioration. Similarly, increasing the expression of BDNF in mice with MeCP2 mutants has resulted in reduced locomotor deficit. Conclusion: Further longitudinal and cross-sectional studies with rigorous design and larger sample sizes are required in order to guide therapeutic gross motor intervention in girls and women with Rett syndrome. Purpose: Rett syndrome is a rare neurological disorder often associated with a mutation in the MECP 2 gene. It results in severe physical and intellectual disability with a gradual decrease in acquired gross motor abilities. This study explored changes in gross motor abilities over three years in girls/women with Rett syndrome, recruited from a population-based data base. The relationships between these changes and age and genotype were investigated. Method: Families participating in the Australian Rett Syndrome Database were invited to participate in a video study. Ninety-nine families provided a video in 2004 and 70 of these cases submitted a second video in 2007. Gross motor data for the two time points were scored through the use of an assessment tool based on the Gross Motor Function Measure. Results: The level of general gross motor skills decreased in 58 (82.9%) and increased in 12 (17.1 %) cases (mean decrease in z-score 0.50 ± 0.59). The level of complex gross motor skills decreased in 67 (95.7%) and increased in 3 (4.2%) cases (mean decrease in z-score 1.58 ± 1.11). General motor skills declined for cases in each of the four age-groups. Compared to the girls who were younger than 8 years, the decrease in complex motor skills was greater for girls aged 13:S19 years (P=0.021) and women >19 years (P=0.071). Conclusion: Over a 3-year period, there was a small amount of deterioration in general gross motor skills for girls of all ages and a larger deterioration in complex gross motor skills during the teenage years. This detailed understanding of the characteristics of declining gross motor skills in Rett syndrome could contribute to the development of strategies to ameliorate these trends.