Quality of life in Turner syndrome is related to chromosomal constitution: implications for genetic counselling and management

Skuse D, Elgar K, Morris E. Quality of life in Turner syndrome is related to chromosomal constitution: implications for genetic counselling and management. Acta Pædiatr 1999; Suppl 428: 110–13. Stockholm. ISSN 0803–5326
Issues of self-appraisal, friendships and academic attainments are uniquely salient for all adolescents. For girls with Turner syndrome, social problems and learning difficulties often become more serious at this time, yet may be unacknowledged by those responsible for Pædiatric care because their focus is on growth and sexual maturation. Data on the social and educational adjustment of 110 45,X (monosomic) females aged between 6 and 25 years is presented. Detailed information on the patients'precise karyotype was used to demonstrate systematic differences in adjustment between those whose single X chromosome was maternally derived and those in whom it was paternal. Implications for educational support and parental guidance are discussed. □ Educational attainments, karyotype, non-verbal intelligence, quality of life, social adjustment, Turner syndrome, verbal intelligence