Down syndrome symptoms causes Diagnosis and treatment

what are Down syndrome

Down syndrome or trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year-old child, but this can vary widely
There is no cure for Down syndrome. Education and proper care have been shown to improve quality of life. Some children with Down syndrome are educated in typical school classes, while others require more specialized education.Some individuals with Down syndrome graduate from high school and a few attend post-secondary education.In adulthood, about 20% in the United States do paid work in some capacity with many requiring a sheltered work environment. Support in financial and legal matters is often needed.Life expectancy is around 50 to 60 years in the developed world with proper health care

Signs and symptoms

Those with Down syndrome nearly always have physical and intellectual disabilities.As adults, their mental abilities are typically similar to those of an 8- or 9-year-old. They also typically have poor immune function and generally reach developmental milestones at a later age.They have an increased risk of a number of other health problems, including congenital heart defect, epilepsy, leukemia, thyroid diseases, and mental disorders, among others

Physical

Feet of a boy with Down syndrome
People with Down syndrome may have some or all of these physical characteristics: a small chin, slanted eyes, poor muscle tone, a flat nasal bridge, a single crease of the palm, and a protruding tongue due to a small mouth and relatively large tongue.These airway changes lead to obstructive sleep apnea in around half of those with Down syndrome. Other common features include: a flat and wide face. a short neck, excessive joint flexibility, extra space between big toe and second toe, abnormal patterns on the fingertips and short fingers.Instability of the atlantoaxial joint occurs in about 20% and may lead to spinal cord injury in 1–2%. Hip dislocations may occur without trauma in up to a third of people with Down syndrome

Neurological

Most individuals with Down syndrome have mild (IQ: 50–69) or moderate (IQ: 35–50) intellectual disability with some cases having severe (IQ: 20–35) difficulties.[1][30] Those with mosaic Down syndrome typically have IQ scores 10–30 points higher. As they age, people with Down syndrome typically perform less well than their same-age peers. Some after 30 years of age may lose their ability to speak. This syndrome causes about a third of cases of intellectual disability.Many developmental milestones are delayed with the ability to crawl typically occurring around 8 months rather than 5 months and the ability to walk independently typically occurring around 21 months rather than 14 month
Down syndrome is caused by having three copies of the genes on chromosome 21, rather than the usual two.The parents of the affected individual are typically genetically normal.Those who have one child with Down syndrome have about a 1% risk of having a second child with the syndrome, if both parents are found to have normal karyotypes.

Genetics

The extra chromosome content can arise through several different ways. The most common cause (about 92–95% of cases) is a complete extra copy of chromosome 21, resulting in trisomy 21. In 1.0 to 2.5% of cases, some of the cells in the body are normal and others have trisomy 21, known as mosaic Down syndrome.The other common mechanisms that can give rise to Down syndrome include: a Robertsonian translocation, isochromosome, or ring chromosome. These contain additional material from chromosome 21 and occur in about 2.5% of cases. An isochromosome results when the two long arms of a chromosome separate together rather than the long and short arm separating together during egg or sperm development

Diagnosis

After birth

The diagnosis can often be suspected based on the child's physical appearance at birth.An analysis of the child's chromosomes is needed to confirm the diagnosis, and to determine if a translocation is present, as this may help determine the risk of the child's parents having further children with Down syndrome.Parents generally wish to know the possible diagnosis once it is suspected and do not wish pity.

Management

Efforts such as early childhood intervention, screening for common problems, medical treatment where indicated, a good family environment, and work-related training can improve the development of children with Down syndrome. Education and proper care can improve quality of life.Raising a child with Down syndrome is more work for parents than raising an unaffected child.Typical childhood vaccinations are recommended

What are common treatments for Down syndrome?

There is no single, standard treatment for Down syndrome. Treatments are based on each individual's physical and intellectual needs as well as his or her personal strengths and limitations.1 People with Down syndrome can receive proper care while living at home and in the community
Early Intervention and Educational Therapy

Treatment Therapies

Physical therapy includes activities and exercises that help build motor skills, increase muscle strength, and improve posture and balance.
Speech-language therapy can help children with Down syndrome improve their communication skills and use language more effectively
Occupational therapy helps find ways to adjust everyday tasks and conditions to match a person's needs and abilities
Emotional and behavioral therapies work to find useful responses to both desirable and undesirable behaviors.

Drugs and Supplements

Some people with Down syndrome take amino acid supplements or drugs that affect their brain activity. However, many of the recent clinical trials of these treatments were poorly controlled and revealed adverse effects from these treatments. Since then, newer psychoactive drugs that are much more specific have been developed. No controlled clinical studies of these medications for Down syndrome have demonstrated their safety and efficacy, however
Treatment for Down syndrome can include:

Regular checkups and screening
Medications
Surgery
Counseling and support.

People with Down syndrome are at increased risk for certain medical problems, such as:

Congenital heart disease
Leukemia and other cancers
Immune system problems
Thyroid problems
Bone, muscle, nerve, or joint problems
Hearing problems
Eye problems
Seizure disorders
Developmental delay
Mental retardation
Premature aging
Alzheimer's disease