Date of Award


Document Type



Edith Cowan University

Degree Name

Bachelor of Science Honours


School of Psychology and Social Sciences


Faculty of Computing, Health and Science

First Supervisor

Dr Helen Leonard

Second Supervisor

Dr Sonya Girdler

Third Supervisor

Jenny Bourke

Fourth Supervisor

Ami Bebbington


Background: Puberty is a challenging transition for all young women and particularly so for those with an intellectual disability. Individuals with an intellectual disability often experience both cognitive and physical impairment and a wide range of comorbidities. This review explores research into the pubertal trajectory and the management of menstruation in two syndromes within intellectual disability. Rett syndrome which is a severe neurodevelopmental disorder and Down syndrome which is a chromosomal birth disorder. Aim: The purpose of this review was to identify research exploring pube1ial trajectory and menstrual management in females with Rett syndrome and Down syndrome and to identify aspects of these syndromes which may impact puberty for these individuals. Methods: Databases MEDLINE, CINHAL, Proquest Health and Medical Complete and ISI web of Science/ Knowledge were electronically searched to identify relevant articles from earliest electronic record to 2010. A priori criteria for inclusion of studies were applied first to abstracts and to full texts. Studies were included if they explored reproductive, endocrinological, musculoskeletal systems or pube1iy in females with Rett syndrome, Down syndrome and Intellectual disability. Results: Electronic database searches identified 97 relevant miicles with predominately cross sectional methodology. Literature identified abnormalities in bone growth and endocrinothapies in Rett syndrome and a high prevalence of thyroid dysfunction in Down syndrome both of which have been documented to affect puberty. Epilepsy was highly prevalent in both syndromes suggesting high incidences of catamenial epilepsy. Menstrual management was affected by a wide variety of factors with no perfect solution presenting. Conclusion: Literature documented growth retardation, early pubarche and abnormal hormone secretion in Rett syndrome suggesting an underlying endocrine dysfunction. Puberty in Down syndrome is likely to be delayed due to high occurrence of thyroid dysfunction particularly hypothyroidism. Managing menstruation within this population is an area of controversy as many options negatively impact health however reduce distress and discomfmi for the individual and the carer. There is a paucity of research into this field and a large propmiion of studies carried out have weak methodological quality and use small sample sizes reducing the generalizability. Background: Growth retardation, low bone mass, osteopenia and bone dysmorphologies have all been identified as clinical features of Rett syndrome, suggesting the presence of an underlying neuroendocrine disorder. Research into Down syndrome has reported high incidences of comorbidities particularly thyroid dysfunction. Theses findings into Rett syndrome and Down syndrome suggests that pubertal trajectory and other aspects of puberty may be abnormal for these populations. The aim of this study was to determine the pubertal trajectory and methods of menstrual management in females with Rett syndrome and Down syndrome. Methods This research used data from two sets of surveys. The Rett syndrome component of the study was based on six waves of longitudinal data (1996, 2000, 2002, 2004, 2006 and 2009) collected through the Australian Rett Syndrome Surveys. The Down syndrome data for the current study was based on information collected in the Down Syndrome Needs Opinions and Wishes (NOW) questionnaire 2004. Survival analysis was used in determining the pubetial trajectory using the Kaplan Meier method and life tables to calculate survivor estimates. The relationship of genotype and Body mass index on pubetial trajectory was analysed using Cox Proportional Hazards Method. The menstrual management component of the study was analysed using descriptive statistics and regression. Results In Rett syndrome the median age to reach Tanners stage two was 11 years, and the median age of menarche was 14years. The duration between the two milestones was greatest in individuals who reached Tanners stage two earliest. Body mass index and genotype were found to have an impact, with high BMI resulting in earlier onsets. In Down syndrome the median age to the first sign of pubetiy and menarche was 12 years of age. In Rett syndrome and Down syndrome the most commonly used suppressant was the oral contraceptive pill. The most frequently experienced issues were increased seizure activity in Rett syndrome and difficulty understanding in Down. Discussion Pubertal trajectory in Rett syndrome was delayed compared to that of the normative population, In Down syndrome the trajectory was very similar to that of the normative population. The use of menstrual suppressants was much greater in females with Rett syndrome and Down syndrome than in the normative population, this is a concern due to the serious health concerns associated with the use of suppressants.