136: Fragile X Syndrome in Canada: A Canadian Paediatric Surveillance Program Study
Bibliographic record
Abstract
Fragile X syndrome (FXS) is the most common form of inherited intellectual and developmental disability. FXS is characterized by a behavioural phenotype which may include symptoms of autism and attention deficit-hyperactivity, in addition to mild physical features. The prevalence of FXS has been estimated at 1 in 4000 males and 1 in 5–8000 females. There is limited information in the medical literature on the demographics of fragile X syndrome in Canada. It is currently unclear whether the prevalence is similar to published rates in other populations, whether there is a delay in obtaining a diagnosis, and whether there are significant numbers of individuals with FXS, but without access to specialty care. To ascertain the incidence of new diagnoses of FXS as well as obtain information about the demographics, clinical features, geographic distribution and management of FXS in Canada. Paediatricians and paediatric subspecialists who participate in the Canadian Paediatric Surveillance Program (CPSP) were asked to identify newly diagnosed cases of fragile X syndrome seen between April 2012 and April 2014. When new cases were identified, the reporting physician was asked to complete a detailed questionnaire to obtain clinical data on the case. Quantitative and qualitative analyses will be performed to assess incidence, demographics including age at diagnosis, sex, ethnicity, geographic location, clinical features, and access to care for reported cases; with comparisons to previously published data. 41 cases were reported during the study period and a total of 28 cases with completed questionnaires were included for data analysis. There were two females and 26 males. Cases were reported from many provinces across the country with the highest number of cases (n=12, 43%) reported in Ontario. The vast majority of cases were of Caucasian ethnicity. The majority of reporting physicians were responsible for ordering the diagnostic testing. The majority of cases were diagnosed after the age of three years. Additional patient demographic data, clinical features and services used will be analyzed and presented. New diagnoses of Fragile X syndrome are being made in Canada at a rate in keeping with expected prevalence. The geographic distribution and patient demographics were generally representative of the Canadian population. However there was evidence of delayed diagnoses based on generally early ages of parents reported first concern and late ages at diagnosis. Paradoxically the diagnostic laboratories across the country continue to perform enormous numbers of normal fragile X tests every year, raising the concern that the wrong children are being tested. Delayed diagnoses have been a consistent problem in the United States and the concern has led to a call for population-based screening. The CPSP study has shown that the experience of Canadian families affected by fragile X-related disorders is in many ways similar to American families, and that an improved approach to recognizing and diagnosing FXS would be of benefit.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.008 |
| Science and technology studies | 0.003 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".