Down Syndrome

On EnatHood’s social media platforms, we had many conversations about special needs kids, and we have noticed our Habesha community doesn’t have adequate information about Down Syndrome.

There is no proper word in our language. Due to a lack of awareness, the culture doesn’t look favorably toward children with Down Syndrome. They are seen as retribution for the parents’ wrongdoing, causing shame for the family. Children are often hidden, and parents seek religious intervention rather than a medical care.

Children with Down syndrome need access to medical care, and their human rights must be respected to reach their full potential and contribute to society.

Here we, the EnatHood team, believe this wrong culture of ours has to change. Therefore in this blog post, we explain all about Down Syndrome and give the resources available in Ethiopia, the USA, and other places we could find.

What is Down Syndrome?

Down syndrome, also known as Trisomy 21 is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21 which clinically manifests as mild to severe physical and developmental impairments.

What are the different types of Down Syndrome?

Trisomy 21 – About 95% percent of people with Down Syndrome have trisomy 21. A condition which a person is born with three copies of chromosome 21 instead of the usual two copies in every cell.
Translocation – accounts for 3% of people with Down Syndrome and occurs when a portion of chromosome 21 or a complete chromosome 21 becomes attached (translocated) onto another chromosome.
Mosaic – accounts for only 2 % of people with Down Syndrome and occurs when a person has only some cells, but not all cells, with an extra copy of chromosome 21.

What is the prevalence of Down Syndrome?

It is the most common viable autosomal chromosome aberration (∼ 1:700 live births) and the most common genetic cause of cognitive impairment worldwide. And in general, we can say that its prevalence is directly linked to advancing maternal age. This can be exemplified as follows:

Incidence at 20 years of maternal age: ∼ 1:2000
Incidence at 30 years of maternal age: ∼ 1:900
Incidence at 40 years of maternal age: ∼ 1:100
Incidence at 45 years of maternal age: ∼ 1:30

What causes Down Syndrome?

Complete trisomy 21 is NOT a hereditary disease; the chromosomal irregularity occurs spontaneously.

Translocation Down Syndrome is independent of maternal age.

What are the possible clinical presentations ?

Facial and cranial features:

Eyes

Upward-slanting palpebral fissures
Epicanthal folds (A sickle-shaped skin covering the canthus and caruncle of the inner corner of the eye.)
Ocular hypertelorism
Brushfield spots: an aggregation of connective tissue in the periphery of the iris, visible as white or grayish-brown spots.
Strabismus
Cataracts

Mouth

A small oral cavity, together with a large and furrowed tongue, results in the appearance of a protruding tongue.
High-arched and narrow palate
Teeth (late development)

Further features

Hypoplastic nasal bones, broad and flat nasal bridge
Ear anomalies (small, round, low-set ears, adherent earlobes)
Short neck, excess skin at the nape of the neck.

Extremities, soft tissue, and skeletal features

Transverse palmar crease: single crease that runs across the palm.
Sandal gap: a medial displacement of the first toe leading to a large space between the first and second toes.
Obesity: prevalence is approx. 50% (higher than in the general population).
Short stature: Reduced growth with shortening of long bones with an average adult height: of 150 cm (4 ft 11 in).

Organ malformations and associated conditions

Heart: congenital heart defects in ∼ 50% of cases.
Urogenital system: decreased fertility in men.
Hypothyroidism
Type 1 diabetes
Celiac disease
Obstructive sleep apnea
Hearing loss
Increased risk of leukemia
Early-onset Alzheimer’s disease
Increased risk of developing epilepsy

Development

Delayed motor development
Varying levels of intellectual disability (average IQ: 50)
Developmental milestones (e.g., sitting, walking, talking) are achieved at approximately twice the age of children without Down syndrome.

Behavioural disorders

ADHD (a neurodevelopment disorder characterized by impulsivity, hyperactivity, and inattention with impairment of social, occupational, and academic performances.)
Conduct Disorder ( a behavioral disorder in children and adolescents characterized by a repetitive and persistent pattern of disruptive behavior for >12 months that violates the fundamental rights of others or age-appropriate societal norms or rules.)

What are the options of screening ?

Counseling needs to proceed with the screening procedures. Then the health care provider might need to run a few selected tests to help settle the diagnosis. For instance “Combined Test” (during the first trimester of pregnancy) which has a detection rate of about 90%. And that of the Quadruple Test (during the second trimester of pregnancy).

But the confirmatory test of choice is fetal karyotyping( during the prenatal period) or Chromosomal analysis (during the postnatal period).

What are the treatment options ?

Physical Therapy or Physiotherapy – a program of specially designed exercises for preventive and therapeutic purposes that help them regain or improve their physical abilities.
Behavioural Therapy – a psychotherapy that eliminates self-destructive and unwanted behaviors.
Speech Therapy – a type of therapy used for language disorders, voice disorders, speech disorders, cognitive-communication disorders, and swallowing disorders.
Occupational therapy – a rehabilitative service that assists individuals with regaining or improving physical abilities impaired by disease, injury, or disability, particularly within the person-environment interface.

What is the average life expectancy of people living with Down Syndrome?

Studies have shown that people with Down Syndrome have a relatively decreased life expectancy, with an average lifespan of approximately 60 years.

What could be the common causes of death among people with Down Syndrome?

Common causes of death in individuals with Down syndrome in decreasing order of incidence will be as follows:

Infections (particularly pneumonia)
Congenital malformations,(particularly congenital heart diseases)
Circulatory diseases (Coronary Artery Dis
Dementia

When is the world’s down syndrome day?

World Down Syndrome Day is marked each year on March 21, beginning in 2006. The 21st day of March was selected to signify the uniqueness of the triplication of the 21st chromosome which causes Down syndrome. Every year on March 21, World Down Syndrome Day is observed to create awareness about Down syndrome.

The theme of World Down Syndrome Day this year is “Inclusion Means”. It calls for making efforts to include people with Down Syndrome in all matters of life and not discriminate against them.

Other Resources

Deborah Foundation Deborah Foundation is a non-profit organization in Ethiopia dedicated to improving the quality of life for individuals with Down Syndrome by promoting the right to live with health and dignity as valued and full citizens.
Down Syndrome Research Foundation (DSRF) DSRF initiates research studies better to understand the learning styles of those with Down syndrome.
Global Down Syndrome Foundation This foundation is dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education, and advocacy.
National Association for Down Syndrome The National Association for Down Syndrome supports all persons with Down syndrome in achieving their full potential. They seek to help families, educate the public, address social issues and challenges, and facilitate active participation.
National Down Syndrome Society (NDSS) NDSS seeks to increase awareness and acceptance of those with Down syndrome.

Summary

Down syndrome, also called trisomy 21, is the most common autosomal chromosomal abnormality, occurring in approximately 1:700 live births.
The risk of a trisomy 21 pregnancy increases with maternal age.
Most individuals with Down syndrome have full trisomy 21, which occurs due to meiotic nondisjunction and results in a genotype with three complete copies of chromosome 21 and a total of 47 chromosomes.
Clinically, trisomy 21 manifests as a syndrome involving a characteristic appearance (e.g., upward-slanting palpebral fissures, epicanthal folds, protruding tongue, short stature, transverse palmar crease, sandal gap), organ malformations (e.g., heart defects), and endocrine disorders (e.g., obesity, diabetes mellitus, hypothyroidism).
Trisomy 21 is associated with an increased risk of malignancy (e.g., high risk of leukemia) and intellectual disability.
Trisomy 21 is primarily detected in prenatal tests, including ultrasound measurement of nuchal translucency and maternal blood tests for certain hormones.
Management of Down Syndrome involves evaluating, monitoring, and treating the symptom complex and malformations as necessary.