Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome
The early developmental history prior to the manifestation of Rett syndrome features is of clinical interest. This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. The Australian Rett Syndrome Datab...
| Main Authors: | , , , , , |
|---|---|
| Format: | Journal Article |
| Published: |
Sage
2011
|
| Online Access: | http://hdl.handle.net/20.500.11937/9418 |
| _version_ | 1848745944847220736 |
|---|---|
| author | Fehr, S. Bebbington, A. Ellaway, C. Rowe, P. Leonard, H. Downs, Jennepher |
| author_facet | Fehr, S. Bebbington, A. Ellaway, C. Rowe, P. Leonard, H. Downs, Jennepher |
| author_sort | Fehr, S. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | The early developmental history prior to the manifestation of Rett syndrome features is of clinical interest. This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. The Australian Rett Syndrome Database and International Rett Syndrome Phenotype Database were used to source a total of 293 confirmed female subjects. Most girls learned to sit, were able to babble or use words, and approximately half learned to walk. Altered milestone attainment was associated with earlier diagnosis. There was variation in the acquisition of milestones, the age of regression, and the age of diagnosis by genotype. Most parents expressed concerns about unusual behaviors or development during infancy, and a more subtle atypical development during infancy was reported for most girls. It is important for clinicians to be aware of variable early development in Rett syndrome and that timely genetic testing is not precluded on this account. |
| first_indexed | 2025-11-14T06:25:25Z |
| format | Journal Article |
| id | curtin-20.500.11937-9418 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T06:25:25Z |
| publishDate | 2011 |
| publisher | Sage |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-94182017-09-13T16:08:46Z Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome Fehr, S. Bebbington, A. Ellaway, C. Rowe, P. Leonard, H. Downs, Jennepher The early developmental history prior to the manifestation of Rett syndrome features is of clinical interest. This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. The Australian Rett Syndrome Database and International Rett Syndrome Phenotype Database were used to source a total of 293 confirmed female subjects. Most girls learned to sit, were able to babble or use words, and approximately half learned to walk. Altered milestone attainment was associated with earlier diagnosis. There was variation in the acquisition of milestones, the age of regression, and the age of diagnosis by genotype. Most parents expressed concerns about unusual behaviors or development during infancy, and a more subtle atypical development during infancy was reported for most girls. It is important for clinicians to be aware of variable early development in Rett syndrome and that timely genetic testing is not precluded on this account. 2011 Journal Article http://hdl.handle.net/20.500.11937/9418 10.1177/0883073811401396 Sage restricted |
| spellingShingle | Fehr, S. Bebbington, A. Ellaway, C. Rowe, P. Leonard, H. Downs, Jennepher Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome |
| title | Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome |
| title_full | Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome |
| title_fullStr | Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome |
| title_full_unstemmed | Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome |
| title_short | Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome |
| title_sort | altered attainment of developmental milestones influences the age of diagnosis of rett syndrome |
| url | http://hdl.handle.net/20.500.11937/9418 |