Down Syndrome

By: Grant H

History Behind Down Syndrome


In 1866 a British physician, John Langdon Down, for whom the syndrome is now named, first described Down syndrome, as “Mongolism.” Down syndrome wasn't called “Down syndrome” until the early 1970s. In 1959 French Geneticist Professor Jerome Lejeune discovered that individuals with Down syndrome have an extra chromosome. Later, chromosome studies were developed to confirm the diagnosis of Down syndrome.

The Discoverer

French physician, Jerome Lejeune, identified/discovered Down syndrome in 1959.

Other Important Researcher

Dr. Ahmad Salehi, a researcher for Stanford University, is currently trying to find therapeutic treatments for Down syndrome.

How is Down Syndrome Diagnosed?

Screening tests, such as an ultrasound or a blood test during your first or second trimester. These can help show if the developing baby has a risk for getting Down syndrome. However sometimes these tests don't give 100% accurate results.

Symptoms of Down Syndrome

Developmental: delayed development, learning disability, short stature, or speech delay in a child

Cognitive: intellectual disability or difficulty thinking and understanding

Mouth: abnormally large tongue or displacement of the tongue

Eyes: lazy eye or spots

Also common: bent little finger, congenital heart disease, flaccid muscles, hearing loss, immune deficiency, low-set ears, mouth breathing, obesity, single line on palm, thyroid disease, or vision disorder

Signs of Down Syndrome

Signs of Down syndrome are distinct facial appearance, intellectual disability, and developmental delays.

These Are All Kids With Down Syndrome

Down Syndrome is Sex-Linked

Down syndrome is sex linked. The chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells.

How do People Get Down Syndrome

Down syndrome is typically caused by what is called nondisjunction. Nondisjunction happens when a pair of chromosomes fails to separate during egg or sperm formation. When that egg unites with a normal sperm to form an embryo, the embryo ends up with three copies of chromosome 21 instead of the normal two. Basically, someone gets Down syndrome for having an extra chromosome.

Treatments

Down syndrome is treated by many therapists, some of them are listed below...

Speech therapist: Specializes in voice rehabilitation.

Pediatric ophthalmologist: Treats eye diseases in children.

Occupational therapist: Improves daily living and work skills of patients.

Maternal-fetal medicine specialist: Focuses on the medical management of high-risk pregnancies.

Physical therapist: Restores muscle strength and function through exercise.

Pediatrician: Provides medical care for infants, children, and teenagers.

Medical geneticist: Diagnoses and manages hereditary disorders.

Pediatric cardiologist: Treats heart disorders in children.