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Parents' descriptions of development and problems associated with infants with Turner syndrome: a retrospective study
M Starke1, K Albertsson Wikland, A Möller
1Göteborg Pediatric Growth Research Center, Institute for the Health of Women and Children, the Sahlgrenska Academy of Göteborg University, SE-405 30 Göteborg, Sweden. Mikaela.Starke@socwork.gu.se
Insights
Parents of infants with Turner syndrome (TS) reported developmental delays and feeding/crying issues impacting family life. Increased support and knowledgeable healthcare providers are crucial for managing these challenges in infants with TS.
Area of Science:
- Pediatrics
- Genetics
- Child Development
Background:
- Turner syndrome (TS) is a genetic condition affecting females.
- Parental experiences and perceptions of infant development in TS are not well-documented.
Purpose of the Study:
- To describe parents' experiences with infants diagnosed with Turner syndrome.
- To assess the impact of diagnosis timing and genotype on perceived infant development and problems.
- To understand the influence of these challenges on family life.
Main Methods:
- Retrospective interviews with 54 parents of girls with Turner syndrome.
- Focus on infant development, feeding, and well-being before age 2.
- Analysis of reported developmental milestones and problems.
Main Results:
- Delayed motor skills (39%), fine motor control (59%), speech (37%), and language (37%) were reported.
- Feeding problems (74%) and excessive crying (41%) were common.
- No significant differences in outcomes based on diagnosis age or genotype.
Conclusions:
- Infants with Turner syndrome frequently experience developmental delays and feeding/crying issues.
- These challenges significantly affect family daily life, particularly feeding difficulties.
- Parents emphasize the need for better support and healthcare provider education regarding Turner syndrome in infancy.
Objective:
To describe parents' experiences of having an infant diagnosed with Turner syndrome and to determine whether receiving the diagnosis influenced the parents' perceptions of their child's development and/or problems during infancy. In addition, we set out to determine whether the late development of the infant and the perceived problems were related to genotype.
Methods:
In this retrospective study, 54 parents (39 mothers and 15 fathers) from different families, each containing a girl with Turner syndrome, were interviewed in order to describe the development, feeding and overall well-being of their daughter during infancy (defined as being before the age of 2 years).
Results:
Late development was reported to occur in the areas of motor activity (39%), fine motor control (59%), speech (37%) and language (37%). Feeding problems were frequent (74%) and screaming periods occurred in 41%. No differences were found between the responses of the parents whose children were diagnosed before 2 years of age and the responses of those whose children were diagnosed after 2 years of age. No differences were found concerning development and/or problems between the genotypes.
Conclusions:
Parents reported delayed development and problems to do with feeding and crying during infancy. These problems had an effect on their everyday life and that of their families, especially the problems relating to feeding. Parents reported that support and advice would have been of significant benefit in coping with the feeding difficulties. Parents were particularly concerned that the personnel at well-baby clinics should be more knowledgeable about the difficulties that can occur in families with an infant with Turner syndrome.