Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation.
Res Dev Disabil
; 148: 104719, 2024 May.
Article
em En
| MEDLINE
| ID: mdl-38507982
ABSTRACT
BACKGROUND:
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Early Check, a voluntary newborn screening study, screened 18,833 newborns for FXS over â¼3 years. Exploring parental attitudes and perspectives can provide insight to the potential future acceptability of public health screening. METHODS AND PROCEDURES Mothers of infants who received a screen positive result for FXS (n = 6) or fragile X premutation (FXPM; n = 18) were interviewed about their perceptions and experiences. OUTCOMES ANDRESULTS:
Mothers of children with FXS described utility in receiving information about their child, particularly to monitor for potential developmental issues and intervene early; overall mothers did not regret participating. Mothers reported various reactions to receiving the FXS or FXPM results including (1) stress and worry; (2) guilt; (3) sadness and disappointment; (4) neutrality, relief, and acceptance; and (5) confusion and uncertainty. CONCLUSIONS AND IMPLICATIONS Despite initial reactions such as sadness, stress, and worry, mothers found value in learning of their child's presymptomatic diagnosis of FXS, particularly the anticipated long-term benefits of early diagnosis to their child's health and wellbeing. Our results indicate that professionals returning positive newborn screening results should anticipate and prepare for reactions such as parental shock, guilt, sadness, and uncertainty. Genetic counseling and psychosocial support are critical to supporting families.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome do Cromossomo X Frágil
/
Deficiência Intelectual
Limite:
Child
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Female
/
Humans
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Infant
/
Newborn
Idioma:
En
Revista:
Res Dev Disabil
Assunto da revista:
TRANSTORNOS MENTAIS
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Estados Unidos