"This could be me": exploring the impact of genetic risk for Huntington's disease young caregivers.

Huntington's disease (HD) is a predominantly adult-onset, genetic, neurodegenerative condition. Children of affected individuals have a 50% risk of inheriting HD and often assume caregiving roles for their parent. Studies specifically focused on HD young caregivers have proposed that the genetic risk component of HD "exacerbates" the caregiving experience and identified common responsibilities, burdens, and support needs, but none have explored the relationship between the caregiving role and perception of genetic risk.

Impact of Huntington Disease Gene-Positive Status on Pre-Symptomatic Young Adults and Recommendations for Genetic Counselors.

Huntington disease (HD) is an autosomal dominant, progressive neurodegenerative disorder for which there is no cure. Predictive testing for HD is available to asymptomatic at-risk individuals. Approximately half of the population undergoing predictive testing for HD consists of young adults (≤35 years old).

Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis.

Purpose: The Pre-familial Amyotrophic Lateral Sclerosis (Pre-fALS) study is a longitudinal study of individuals potentially at risk for developing familial amyotrophic lateral sclerosis. Our goals were to (1) explore participants' decisions of whether to learn results of presymptomatic testing or not; (2) understand the psychosocial impact of these decisions; and (3) assess preferences for receiving results by telephone or in person.

Methods: The sample for this substudy comprised 20 participants drawn randomly from autosomal dominant mutant superoxide dismutase 1 families in the Pre-fALS study.

Candles in the snow: ritual and memory for siblings of infants who died in the intensive care nursery.

Objective: To assess the developmental impact of surviving a sibling who dies in the neonatal intensive care unit (NICU).

Study Design: Fourteen (13 adults, 1 adolescent) siblings of infants who died in Dartmouth-Hitchcock Medical Center's NICU between 1980 and 1990 were interviewed. The interviews were recorded and transcribed verbatim, and prominent themes were coded.

Hope in palliative care: from narcissism to self-transcendence in amyotrophic lateral sclerosis.

Introduction: The concept of hope in palliative care is an important and neglected area of research. Amyotrophic lateral sclerosis (ALS), a progressive degenerative motor neuron disease, offers an excellent opportunity to study this construct as the illness is virtually always fatal. Our research explored the meaning of hope in individuals with ALS.

"We kept our promises": an oral history of Harry Shwachman, M.D.

Harry Shwachman, M.D., was Chief of the Division of Clinical Nutrition at Children's Hospital, Boston, which eventually became the largest Cystic Fibrosis (CF) center in the world.

"Coming through the fog, coming over the moors": the impact on pediatric oncologists of caring for seriously ill children.

Background: Pediatric palliative care has made substantial strides in the past decade; less attention has focused on providing emotional support to the pediatric oncologist.

Methods: I interviewed a total of 30 pediatric oncologists throughout the United States using a semistructured interview guide; anxiety and depression scales were administered. Major themes were identified.

Attitudes toward prenatal screening and testing for Fragile X.

Purpose: Currently, the American Colleges of Medical Genetics and Obstetrics and Gynecology recommend screening in the prenatal setting only for individuals with specific family history indicators. Our aims were to study patient attitudes and psychologic impact of offering widespread screening for Fragile X in a prenatal setting.

Methods: Participants were recruited from pregnant women referred for "Prenatal Diagnosis Options" counseling by their primary provider in the first trimester of pregnancy.

"The lion, the witch and the wardrobe": impact on sibs of individuals with AAT deficiency.

Alpha(1)-antitrypsin (AAT) deficiency is a genetic disorder that may cause serious pulmonary or liver impairment in children or adults. Although genetic sequencing of the AAT gene has only been available for 20 years, analysis of the amount and electrophoretic mobility of the AAT protein has allowed clinical phenotyping for more than 40 years. There have been no studies assessing the psychological impact of having a sib affected by AAT deficiency.

"You have shown me my end": attitudes toward presymptomatic testing for familial amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a lethal degenerative motor neuron disease. Approximately, 5-10% of cases of ALS are familial (FALS), inherited primarily as an autosomal dominant trait. Recently, mutations in Cu/Zn superoxide dismutase (SOD1) have been identified; 15-20% of familial cases carry this mutation, providing a marker for diagnosis, carrier testing, and prenatal detection.