From Concerns to Care: Understanding Parental Priorities and Access to Early Intervention for Infants With Fragile X Syndrome
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View abstract on PubMed
Summary
This summary is machine-generated.Infants with fragile X syndrome (FXS) face barriers to early intervention services despite early diagnosis. Caregiver concerns focus on motor and communication development, yet only half access services by age one.
Area Of Science
- Neurodevelopmental disorders
- Genetics and genomics
- Pediatric health
Background
- Fragile X syndrome (FXS) is a genetic condition impacting development.
- Early diagnosis in newborns allows for proactive intervention.
- Caregiver experiences and service access for presymptomatic infants are not well understood.
Purpose Of The Study
- To examine the experiences of infants diagnosed with FXS at birth and their caregivers.
- To identify caregiver concerns during the first year of life.
- To assess access to early intervention services for these infants.
Main Methods
- Pilot intervention program for newborns with FXS and caregivers.
- Mixed-methods approach utilizing caregiver questionnaires and intervention notes.
- Data collection focused on identifying concerns and service utilization.
Main Results
- Caregivers reported motor development concerns early, shifting to communication concerns by 12 months.
- Only 50% of eligible infants were enrolled in Part C services by their first birthday.
- Occupational therapy was most utilized, followed by physical and feeding therapies.
Conclusions
- Infants with FXS diagnosed presymptomatically encounter barriers to early intervention access.
- Despite eligibility for Part C services, access remains a challenge.
- Further research is needed on referral processes for infants with neurogenetic conditions.
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