Factors Associated with Age of Diagnosis in Four Neurogenetic Syndromes
| Autor: | Lelia Murtagh, Colin Reilly, Joyce Senior |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Pediatrics
medicine.medical_specialty Health (social science) Genetic syndromes business.industry 05 social sciences Public Health Environmental and Occupational Health Mean age Chronological age medicine.disease Fragile X syndrome 03 medical and health sciences 0302 clinical medicine 030225 pediatrics Medicine 0501 psychology and cognitive sciences Deletion syndrome Williams syndrome Hearing difficulty business 050104 developmental & child psychology |
| Zdroj: | Journal of Policy and Practice in Intellectual Disabilities. 14:180-186 |
| ISSN: | 1741-1122 |
| DOI: | 10.1111/jppi.12202 |
| Popis: | Background: Early identification of developmental disabilities is advocated, so that affected children and families can be adequately supported. There is a lack of data on factors associated with earlier diagnosis in four of the most common neurogenetic syndromes. Aims: The aim was to identify the mean ages of diagnosis in four of the most common neurogenetic syndromes and identify factors associated with early diagnosis. Method: The parents of school-aged children (4–19 years) with one of the four genetic syndromes (Fragile X syndrome, Prader–Willi syndrome, Williams syndrome, 22q11.2 deletion syndrome (22qdel)) in the UK and Ireland were surveyed and asked about age of diagnosis and the presence of a range of medical conditions. Findings: Mean age of diagnosis was lowest in Prader–Willi syndrome (0.47 years), and this was significantly lower than Fragile X syndrome (3.52 years), Williams syndrome (1.76 years), and 22qdel (3.21years) (all p |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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