ADVANCES IN PEDIATRICS since then with identification of the genetic etiology in 1959,
epidemiologic studies of birth cohorts in the 1980s, the development of rodent models, and …

Many autistic people do not learn they are autistic until adulthood. Parents may wait to tell a
child they are autistic until they feel the child is “ready.” In this study, a participatory team of …

Triple X syndrome (47, XXX) occurs in approximately 1: 1,000 female births and has a
variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47 …

Introduction: Neuromuscular diseases comprise a heterogeneous group of genetic
syndromes that lead to progressive muscle weakness, resulting in functional limitation …

Klinefelter syndrome (XXY) is a common yet significantly underdiagnosed condition with
considerable medical, psychological and social implications. Many health care providers …

Sex chromosome aneuploidies (SCAs) are among the most common chromosomal
conditions. There is little scholarship on how adolescents and young adults (AYAs) affected …

Purpose Individuals with sex chromosome aneuploidies (SCAs) are born with an atypical
number of X and/or Y chromosomes, and present with a range of medical, developmental …

The goal of this practice resource is to provide genetic counselors and other healthcare
professionals with a resource to reference when providing genetic counseling services to …

Introduction Over the past two decades, there has been a shift from concealing diagnoses of
sex development from impacted people to the broad principle of age-appropriate disclosure …

Objective To develop a theoretical model to explain how parents think about the process of
communicating with their affected child about the psychiatric manifestations of 22q11DS …