Down Syndrome

Down syndrome is a genetic disorder caused primarily by the presence of an extra copy of chromosome 21, which makes a total of 47 chromosomes instead of the natural 46. This extra Down syndrome chromosome hinders the developmental and intellectual abilities of the patients. It is one of the most common causes of developmental disabilities. 

1.0Types of Down Syndrome

There are mainly 3 types of Down Syndrome:

1. Trisomy 21: It is considered the most common type of Down syndrome, with about 95 out of 100 cases. In this type, the whole body has three copies of chromosome 21 instead of two. 
2. Translocation Down Syndrome: This occurs in about 3-4% of Down syndrome cases. It occurs if a section of chromosome 21 attaches or translocates to another chromosome. It may also occur before conception. In translocation Down syndrome, an individual has the normal two copies of chromosome 21, but a part of chromosome 21 is usually attached to another chromosome.
3. Mosaic Down Syndrome: It is a rare type of Down syndrome with about 1-2% of cases. In this type of Down syndrome, only some cells of the patient have three copies of chromosome 21, and others have the usual two copies 

2.0People with Down Syndrome

1. Down Syndrome in Infants

Down syndrome in infants is often diagnosed shortly after birth owing to specific physical characteristics and developmental differences. Although many infants with Down syndrome share common features, such as a flat nasal bridge, almond-shaped eyes, and small mouth, they also experience significant developmental delays. In addition to their unusually soft muscles, these infants may tend not to hold up their heads, which may make them poor feeders and delay motor milestones such as sitting and crawling. Signs of Down syndrome in infants include almond-shaped eyes, a flat facial profile, a single deep crease across the palm of the hand, short stature, etc. 

2. Adults with Down Syndrome

Adults with Down syndrome have their own challenges as they enter adulthood from childhood. Most individuals remain with their families or in supported living. They can lead productive, meaningful lives through employment, social interaction, and community participation. Health care and regular check-ups are important in managing common medical problems associated with Down syndrome, including heart problems and sleep apnea.

3.0Down Syndrome Diagnosis

1. Prenatal Screening: During Pregnancy, doctors suggest many blood tests and ultrasounds that help them assess the likelihood of Down Syndrome.
2. Prenatal Diagnostic Tests: The screening tests only suggest the likelihood, not the confirmation, of having Down syndrome. Patients who have shown a high risk of having Down syndrome in Prenatal Screening tests are suggested diagnostic tests like amniocentesis or chorionic villus sampling.
3. Postnatal Diagnosis: After Birth, Down syndrome is diagnosed through physical examination and a chromosome analysis. For this, a blood test is conducted to determine the presence of extra chromosome 21 in infants. 

4.0Down Syndrome Treatment 

Although there are not any direct treatments for this syndrome, techniques are used for disease management and well-being for patients suffering from this disease. 

1. Speech and language therapy: Most children with Down syndrome suffer from speech delay, and therefore, speech therapy is necessary to enhance the ability to communicate effectively.
2. Behavioural Therapy: Any behavioural challenge arising may be solved by means of behavioural therapy and adaptation into a more positive way of living.
3. Surgical Interventions: If there are any medical conditions, like heart defects, surgery is conducted to rectify the problems, and hence, their health and well-being will improve.
4. Medical Care: Regular check-ups are important to monitor for associated health conditions like heart defects, vision and hearing problems, and thyroid issues. Early treatment for these conditions can prevent complications.
5. Educational Support: Down syndrome children learn cognitive, social, and emotional skills through specially designed educational programs, thus forming a structured environment for learning.

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