Parents' descriptions of development and problems associated with infants with Turner syndrome: A retrospective study

• Published in: Journal of paediatrics and child health 2003-05, Vol.39 (4), p.293-298
• Main Authors: Starke, M, Albertsson Wikland, K, Möller, A
• Format: Article
• Language: English
• Subjects: Adolescent; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Biological and medical sciences; Child; Child, Preschool; Crying; Developmental delays; Developmental Disabilities - diagnosis; Developmental Disabilities - etiology; Emergency and intensive care: neonates and children. Prematurity. Sudden death; Feeding difficulties; Female; Girls; Gynecology. Andrology. Obstetrics; Health professionals; Humans; infancy; Infant; Infants; Intensive care medicine; Male; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance; Medical sciences; Needs assessment; Parents; Parents - psychology; Prenatal Diagnosis; Retrospective Studies; Support; Surveys and Questionnaires; Sweden; Turner syndrome; Turner Syndrome - diagnosis; Turner Syndrome - genetics; Turner Syndrome - physiopathology
• ISSN: 1034-4810; 1440-1754
• DOI: 10.1046/j.1440-1754.2003.00150.x

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.