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A family arrives for their amniocentesis at 16 weeks pregnant with their third child. Their NT test was positive for likely Down Syndrome. The amniocentesis is clinically diagnostic for Down Syndrome.

a. Describe Down Syndrome- physical features, social features, life expectancy, level of functioning.

Answer 1

Down syndrome is a chromosomal disorder leading to Trisomy of 23 rd pair of chromosomes.

Physical features:

• Flat face and nose Mongolian feature
• Ears small and low set
• Almond shaped eyes.
• Tongue may stick out of mouth.
• Single palmar crease
• Webbed and short fingers
• Decreased muscle tone
• Loose joints and easily flexible body
• Short stature
• Small head and short neck
• reduced ability of thinking, reasoning and understanding
• delayed achievement of developmental milestones

Social features:

The people with Downs syndrome may present withanxiety, impulsive behavior, OCD, inattentive behaviors, sleep difficulty, depression etc.

The school age child may have   decreased language and communication abilities and may present with

• Impulsive, hyperactive and oppositional behaviors
• Anxious , inflexible behaviors
• Stereotypical behaviors, no social relatedness

Adolescents and young adults may have better cognitive and communication skills but may present with

• Social withdrawal, decreased coping,depression
• Generalized anxiety and mood changes
• OCD
• Sleep difficulty, day time sleep and fatigue

Older adults may present with:

• Anxiety
• Depression, social aloofness, decreased self care
• Decreased social skills
• Neurological disorders and Dementia

Life expectancy:

Today the average lifespan of a person with Down syndrome is approximately 60 years. Also the life expectancy depends on the quality of life as well as the related disease conditions or illness like heart disease etc.

Level of Functioning:

The level of functioning will be at a better level, if the person does not have associated illnesses like heart disease, epilepsy, visual or auditory issues etc.

They require constant training and ordering of their activities.

If they are trained to do their activities of daily living and the cleanliness etc… they will follow a proper routine and will take care of themselves.

They are attached to family and need care and attention from family members. Also they will respond back to family members with same care and attention. They are usually calm and cool people, unless they have some emotional or neurological issues.

Socially also they are very co operative people if they get a proper training on how to behave and respond.