Published by: Very Well Health
Written by: Kathleen Fergus
Trisomy is when three copies of a chromosome are present instead of two (all chromosomes normally come in pairs). While most parents-to-be are familiar with Down syndrome and will undergo prenatal screening to detect it, there are other, potentially more serious trisomies that may occur, including Edwards syndrome, Patau syndrome, and others. Some may cause few, if any, symptoms, while others can lead to severe defects that make life—or even the pregnancy—unsustainable.
A gene is essentially a packaged bundle of chromosomes that contain all of the coded information related to our physiological makeup and metabolic function. Each gene typically contains 46 chromosomes, 23 of which we inherit from our mothers and fathers, respectively.
Of these, 22 pairs are autosomes, which determine our unique biological and physiological features. The 23rd pair is sex chromosomes (known as X or Y), which designate whether we are biologically female or male.
In rare instances, a coding error may occur when a cell divides during fetal development. Instead of splitting cleanly into the two identical chromosomes, the newly divided chromosome will have extra genetic material. This can lead to either a full trisomy (in which a complete third chromosome is created) or a partial trisomy (in which only part of the chromosome is copied). From this point forward, the error will be repeated and repeated as the cell continues to divide.
Down syndrome, the most common genetic disorder in humans is referred to as trisomy 21 because there is an extra copy of chromosome 21 in a gene. Other genetic disorders are similarly named.
Thanksgiving is the day set aside in the United States and Canada as a day of pausing to reflect all that we are thankful for by connecting with friends and family over good food. It is also the day of taking special precautions when serving people with developmental disabilities.
Aspiration is a huge risk during the holiday season. Factors that place people at risk for aspiration includes the following:
Being fed by someone else
Poor chewing or swallowing skills
Weak or absent coughing/gagging reflexes which is common in people with cerebral palsy or muscular dystrophy
Eating to quickly
Inappropriate fluid consistency
Inappropriate food texture
For children and adults with autism, Thanksgiving may be a challenge for a variety of reasons:
Sensory and emotional overload with large groups
Difficulty with various textures of food
To help you mange Thanksgiving with ease, click on the articles below:
Published by: Very Well Health
Written by: Reza Shouri, MD
An absence seizure, often referred to as petit mal seizure, is a non-convulsive seizure that is often not recognized as a seizure at all. Absence seizures usually occur in children who have epilepsy, but adults can have them as well. While absence seizures are not as disruptive or obvious as convulsive seizures, they cause impairment of consciousness and interfere with learning, driving, and other aspects of life.1
Absence seizures are typically a childhood condition. For children who do not have other types of seizures, absence seizures tend to stop on their own after adolescence. Often, children who have epilepsy characterized by multiple seizure types also experience a significant decrease in the absence seizure type after adolescence.1
Absence seizures can go unnoticed. They can occur several times a day and rarely cause disruption, noise, or clearly obvious manifestations. Sometimes, a person may experience them for months before others begin to take notice. Click here to read the rest of the story.