Assessing the Fragile X Syndrome Newborn Screening Landscape.
Pediatrics
; 139(Suppl 3): S207-S215, 2017 Jun.
Article
em En
| MEDLINE
| ID: mdl-28814541
ABSTRACT
BACKGROUND:
Fragile X syndrome (FXS) is the most common known inherited form of intellectual disability. Early identification is an important step in linking FXS individuals with appropriate and timely medical and social services. Newborn screening (NBS) is 1 approach that has been used for other conditions to facilitate early identification.METHODS:
A literature review was conducted to identify issues, barriers, challenges, and approaches to addressing challenges related to NBS for FXS. Search terms included fragile X syndrome, FMR1, newborn screening, screening, and genetic testing. To supplement the literature review, 9 key informant interviews were conducted. Information gathered through these interviews supplemented what was identified in the literature. Information from both the literature review and supplemental interviews was reviewed by 3 researchers who discussed and came to consensus on thematic areas and categorization of issues.RESULTS:
The barriers and challenges related to NBS for FXS identified in the literature and by experts and stakeholders are categorized into 5 thematic areas public health burden, treatment, timing, screening/testing methodologies, and translating results. Summaries of these issues and barriers are provided, along with potential approaches to addressing them.CONCLUSIONS:
The issues and barriers described in this article highlight limited areas of knowledge that need be addressed to improve our understanding of FXS and the potential benefit of NBS. The landscape of NBS for FXS could be influenced by a series of research findings over time or a larger breakthrough that demonstrates an effective targeted treatment that has to be implemented early in life.
Texto completo:
1
Coleções:
01-internacional
Contexto em Saúde:
11_ODS3_cobertura_universal
/
2_ODS3
Base de dados:
MEDLINE
Assunto principal:
Triagem Neonatal
/
Síndrome do Cromossomo X Frágil
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Humans
/
Newborn
País/Região como assunto:
America do norte
Idioma:
En
Revista:
Pediatrics
Ano de publicação:
2017
Tipo de documento:
Article