Both early intervention (EI) programs for infants and toddlers with disabilities and newborn screening (NBS) programs to identify specific disorders shortly after birth rest on the assumption that the best way to prevent or lessen the impact of a disorder is to provide treatment as early as possible. Despite this shared vision, the two programs…

The authors employed a scoping review to examine peer-reviewed journal articles published 2002-2020 focusing on adolescents who are deaf or hard of hearing and their self-reported identities. d/Deaf identity theory was explored in light of recent advances in developed countries, e.g., universal newborn hearing screening, increased access to…

The objective of this study is to examine the early care trajectories of congenitally deaf children from a parental perspective, starting with universal neonatal hearing screenings. The analysis using a three-dimensional care trajectory concept is aimed at developing a basic typology of postscreening care trajectories. Children with…

As part of efforts throughout China to improve the outcomes of individuals with disabilities, the Shanghai government has launched a campaign to screen at least 95 percent of newborns. To assist in meeting this goal, the Ages & Stages Questionnaires (ASQ), Third Edition, was translated into Chinese and the feasibility of a screening system…

The neurosurgical goal when treating children with spina bifida (predominantly myelomeningocele) is to maintain stable neurological functioning throughout the patient's life time. Unfortunately, few long-term outcome studies are available to help direct the neurosurgical care of a child born with myelomeningocele and often treatment relies more…

In glutaric aciduria type I, an autosomal recessive disease of mitochondrial lysine, hydroxylysine and tryptophan catabolism, striatal lesions are characteristically induced by acute encephalopathic crises during a finite period of brain development (age 3-36 months). The frequency of striatal injury is significantly less in patients diagnosed as…

For years "Exceptional Parent" ("EP") has been offering educational information and support to those challenged with disabilities and takes an equally pro-active role in disseminating vital information that could potentially prevent disabilities. This is evidenced by its past and ongoing efforts in being a proponent and champion for comprehensive…

This bibliography, prepared by the National Library of Medicine through a literature search of its online databases, covers all aspects of newborn screening. It includes references to screening for: inborn errors of metabolism, such as phenylketonuria and galactosemia; hemoglobinopathies, particularly sickle cell disease; congenital hypothyroidism…

This article provides an overview of procedures commonly used in prenatal screening and diagnosis including ultrasound, amniocentesis, chorionic villus biopsy, maternal serum alpha-fetoprotein, and deoxyribonucleic acid (DNA) analysis. Emphasis is on the role of the early interventionist in supporting families during prenatal diagnosis. (Author/DB)

In response to O'Brien et al., who examined predictors of child outcomes among at-risk infants, this article suggests that the goal of prevention and early detection can be more efficiently met if the focus shifts from prediction to ongoing monitoring of children's developmental growth. A three-step model involving ongoing screening, eligibility…

Developed by a multidisciplinary group (convened by Project Zero to Three) of 17 experts in the identification and evaluation of high risk infants and young children, this manual presents basic criteria for tracking at risk infants and toddlers. The first section answers such questions about the criteria as the following: What is a tracking system…