Why Does He Rock His Body?
Discussion
Stereotypies are “…patterned, repetitive, purposeless, involuntary movements that are also rhythmic and continual and tend to change little over time.” They occur at all times of the day, and can get worse with stress or heightened emotions including happiness. Stereotypies more often occur in children with developmental disabilities (up to 61%), sensory impairments (e.g. blindness) or social deprivation. They can be present more often in patients with autism (up to 88%). They can be seen in ~7% of normally developing children too. Their onset is before age 3 years and tend to improve over year...
Source: PediatricEducation.org - May 22, 2023 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news
CNIO researchers describe new functions of protein that plays key role in some tumors and rare diseases
(Centro Nacional de Investigaciones Oncol รณ gicas (CNIO)) Cohesin is a protein complex that plays a key role in cell division; its role in 3D genome structure was described in recent years. Researchers at CNIO have found new functions in the peculiar 3D genome structure of mouse embryonic stem cells. Research on cohesin will help understand how its malfunction contributes to tumorigenesis in some types of cancer, as well as to rare diseases such as Cornelia de Lange syndrome (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - June 18, 2019 Category: Cancer & Oncology Source Type: news
What Causes Microcephaly?
Discussion
Microcephaly is usually defined as an occipitofrontal head circumference (OFC) more than 2 standard deviations (SD) below the mean for sex, age and ethnicity. Severe microcephaly is used for OFC < 3 standard deviations. Rates of microcephaly range from 0.5-12 patients/10,000 live births.
The OFC should be measured at every well child visit and at other opportunities and plotted on standard growth charts. The OFC is measured using a nonelastic tape measure around the largest part of the head with the tape measure held above the eyebrows and ears. It is a highly reproducible measurement. There are several diff...
Source: PediatricEducation.org - September 25, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
DNA discovery could help shed light on rare childhood disorder
(University of Edinburgh) Fresh analysis of how our cells store and manage DNA when they undergo cell division could give valuable insights into a rare developmental condition known as Cornelia de Lange syndrome. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 21, 2017 Category: International Medicine & Public Health Source Type: news
Zebrafish study sheds new light on human heart defects
Researchers working with zebrafish have published a study providing new insights into the causes of the congenital heart defects associated with a rare developmental disorder. The disorder, Cornelia de Lange Syndrome (CdLS), is estimated to occur in up to one in 10,000 births worldwide. CdLS causes a range of developmental anomalies, both physical and cognitive, and up to 70 percent of people with CdLS have congenital heart defects. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - October 16, 2015 Category: Science Source Type: news
Zebrafish study sheds new light on human heart defects
(University of Otago) Researchers working with zebrafish at New Zealand's University of Otago have published a study providing new insights into the causes of the congenital heart defects associated with a rare developmental disorder.The disorder, Cornelia de Lange Syndrome (CdLS), is estimated to occur in up to one in 10,000 births worldwide. CdLS causes a range of developmental anomalies, both physical and cognitive, and up to 70 percent of people with CdLS have congenital heart defects. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - October 15, 2015 Category: Biology Source Type: news
