Family research in the field of ASD has focused on describing the impact of child challenges on parents, usually mothers, and given little attention to the ways in which mothers and fathers reciprocally influence the development of the child with ASD.
Month: March 2020
Five language outcome measures evaluated for intellectual disabilities studies
A multi-university team of researchers found that expressive language sampling (ELS) can be useful in measuring outcomes in clinical trials targeting fragile X syndrome (FXS). According to their study, ELS, a set of procedures for collecting and analyzing spoken language in natural verbal interactions, yielded five language-related outcome measures that may be useful for treatment studies in intellectual disabilities, especially FXS.
UCEDD Slide of the Week
The Plain community is the fastest-growing religious minority in Wisconsin. This community has a high incidence of genetic disorders, many of which are identifiable through newborn screening. We describe efforts by the Wisconsin Newborn Screening Program (WNSP) to improve health care in the Plain community by targeting early identification of, and intervention for, patients with inherited metabolic disorders.
Thoughts of Gratitude: Scott Kornstedt
Shortly after Raegan was born to Scott and his wife Carrie, she was diagnosed with phenylketonuria, or PKU — a rare metabolic disorder that prevents her from properly metabolizing phenylalanine, a common amino acid that exists in most proteins. PKU is a rare disorder that affects approximately 16,000 people in the U.S. It is one of 47 disorders for which newborns in Wisconsin are screened. If left untreated, it can cause intellectual disabilities, seizures, among other health-related issues.
Tracy L. Hagemann, PhD & Albee Messing, VMD, PhD – Slide of the Week
Alexander disease results from gain of function mutations in the gene encoding glial fibrillary acidic protein (GFAP). At least eight GFAP isoforms have been described, however, the predominant alpha isoform accounts for approximately 90% of GFAP protein.
Newly identified cellular trash removal program helps create new neurons
New research by University of Wisconsin–Madison scientists reveals how a cellular filament helps neural stem cells clear damaged and clumped proteins, an important step in eventually producing new neurons.