Developing a Program to Assist Turner's Syndrome Patients and Families

Abstract

Turner's Syndrome [TS] is a chromosomal disorder that affects one in 2500 women. It results in an array of physical difficulties, including short stature, lack of secondary sexual development and cognitive problems. Little research exists to document the psychosocial problems and needs of individuals with TS and their families. The current literature and the results of a regionally based needs assessment are reviewed to guide program development, with emphasis on the emotional and informational needs of these families. Suggestions are provided for strategic early communication and information sharing, development of skill-specific support groups, family networks and family therapy.

Cornelia de Lange syndrome: Parental preferences regarding the provision of medical information

“…There is a risk of information overload, as the ability of parents to cope with a large volume of information given at one time may be limited [Hunfeld et al, 1999]. Many reports highlight parental dissatisfaction with the quantity or quality of information provided at the time of their child's diagnosis [Firth, 1983;Mullins et al, 1991;Sharp et al, 1992;Skotko, 2005] or barriers to obtaining sufficient information [Black and Weiss, 1989]. At the time of diagnosis, most medical information is delivered in person, usually by the health care provider.…”

Avaliação das habilidades sociais na Sindrome de Turner

“…No entanto, a velocidade de crescimento ao longo dos três primeiros anos de vida mantém-se próxima ao normal, havendo a partir de então, um declínio progressivo que culmina na ausência do estirão puberal (RANKE et al, 1983;McCAULEY, ITO et al, 1986). A altura final é, em média, entre 136,4 e 148,7cm, (HOLL et al, 1994; Introdução ROBLÉS-VALDÉS et al, 2003), sendo cerca de 20cm menor que a de mulheres da população em geral (NAERAA et al, 1991;BONDY, 2007) e podendo variar de acordo com a altura dos pais (McCAULEY, ITO et al, 1986;MASSA & VANDERSCHYEREN-LODEWEYCKX, 1991).…”

“…Há maior tendência em tratá-la de acordo com a altura ao invés de tratá-la de acordo com a idade, o que reforça a dependência e a imaturidade da pessoa afetada (NIELSEN, 1993;WILSON et al, 1995). Por isso, as famílias de meninas com ST necessitam de tanta informação quanto possível e de auxílio psicológico para que possam compreender o diagnóstico e lidar com suas implicações da melhor maneira possível (BLIN & BÜHREN, 1990;MULLINS et al, 1991;STARKE et al, 2002).…”