WORLD Down’s syndrome DAY : How to identify and top tips for treating kids with down SYNDROME?

March 30, 2023

Prabhat Times

Jalandhar. (WORLD Down’s syndrome DAY) Down’s syndrome is caused by trisomy of chromosome 21; it is one of the best known chromosomal disorders in humans.

It has effects on most body systems, giving rise to a variety of characteristic clinical features including intellectual impairment, short stature, flat face, flat nasal bridge, prominent epicanthic folds, up slanting palpebral fissures and protruding tongue.

Down’s syndrome is the most common autosomal abnormality worldwide, affecting around 1 in 1000 live births (World Health Organization, 2018).

The name comes from Dr John Langdon Down who published a description of the condition in 1866.

Risks increases with age!

It is well known that the risk of Down’s syndrome dramatically increases as maternal age increases over 30 years. A mother aged 30 years has a risk of 1 in 1000 of having a child with Down’s syndrome.

HOW TO DIAGNOSE DOWN SYNDROME DURING PREGNANCY ?

Current UK guidelines and society of foetal medicine recommends screening for Down’s syndrome in the first trimester using the ‘combined test’.

The combined test can only be performed between 11 + 2 and 14 + 1 weeks gestation and involves measuring nuchal translucency on an ultrasound scan, plus measuring maternal serum beta-hCG plus pregnancy-associated plasma protein A.

Increased nuchal translucency is associated with Down’s syndrome, congenital heart defects and abdominal wall defects.

For women who book late in pregnancy or for whom the nuchal translucency could not be measured, maternal serum screening in the second trimester should be offered.

This can be performed between 14 + 2 and 20 + 0 weeks gestation. This triple or quadruple test involves measuring maternal biochemical markers: alpha-FP, unconjugated oestriol, beta-hCG, +/– inhibin-A. Down’s syndrome is associated with low alpha-FP, low unconjugated oestriol, raised beta-hCG, and raised inhibin-A.

HOW TO IDENTIFY A DOWNSYNDROME BABY ?

The extra chromosome 21 affects most body systems, and results in a wide range of clinical features .

Complications

Patients with Down’s syndrome are at increased risk of developing a number of co-morbidities

All individuals with a diagnosis of Down’s syndrome should be offered an annual health check in primary care.

Mental health assessment may be required if the patient presents with changes in behaviour or mood, or loss of skills.

Immunisations

All individuals with Down’s syndrome should be offered routine immunisation in line with local policy.

In addition, individuals with Down’s syndrome should be considered for annual influenza vaccination given their increased risk of infection, especially if they have chronic cardiac or respiratory disease.

The pneumococcal vaccine should be considered in anyone with Down’s syndrome over the age of 2 years who has either had no pneumococcal polysaccharide vaccine before, or only had the pneumococcal conjugate vaccine (Marder, 2014).

Treatments and therapies

There is no cure for Down’s syndrome; however, early interventions can improve functional outcomes.

This will include assessment and intervention by physiotherapy, occupational therapy and speech and language therapy teams. In addition, any child with Down’s syndrome should receive both psychological and educational support.

KEY POINTS

Down’s syndrome is a common chromosomal disorder characterised by intellectual impairment, dysmorphic facial features and other distinctive phenotypic traits
Most cases of Down’s syndrome are not inherited, and are caused by a failure of chromosome 21 to separate during egg development
The risk of Down’s syndrome dramatically increases as maternal age increases over 30 years
Antenatal screening to detect Down’s syndrome is offered to all pregnant women.
There are several complications and co-morbidities associated with Down’s syndrome, and an annual health check in primary care is recommended
Quality of life and life expectancy is increasing for individuals with Down’s syndrome

Prabhat Times

Jalandhar. (WORLD Down’s syndrome DAY) Down’s syndrome is caused by trisomy of chromosome 21; it is one of the best known chromosomal disorders in humans.

It has effects on most body systems, giving rise to a variety of characteristic clinical features including intellectual impairment, short stature, flat face, flat nasal bridge, prominent epicanthic folds, up slanting palpebral fissures and protruding tongue.

Down’s syndrome is the most common autosomal abnormality worldwide, affecting around 1 in 1000 live births (World Health Organization, 2018).

The name comes from Dr John Langdon Down who published a description of the condition in 1866.

Risks increases with age!

It is well known that the risk of Down’s syndrome dramatically increases as maternal age increases over 30 years. A mother aged 30 years has a risk of 1 in 1000 of having a child with Down’s syndrome.

HOW TO DIAGNOSE DOWN SYNDROME DURING PREGNANCY ?

Current UK guidelines and society of foetal medicine recommends screening for Down’s syndrome in the first trimester using the ‘combined test’.

The combined test can only be performed between 11 + 2 and 14 + 1 weeks gestation and involves measuring nuchal translucency on an ultrasound scan, plus measuring maternal serum beta-hCG plus pregnancy-associated plasma protein A.

Increased nuchal translucency is associated with Down’s syndrome, congenital heart defects and abdominal wall defects.

For women who book late in pregnancy or for whom the nuchal translucency could not be measured, maternal serum screening in the second trimester should be offered.

HOW TO IDENTIFY A DOWNSYNDROME BABY ?

The extra chromosome 21 affects most body systems, and results in a wide range of clinical features .

Complications

Patients with Down’s syndrome are at increased risk of developing a number of co-morbidities

All individuals with a diagnosis of Down’s syndrome should be offered an annual health check in primary care.

Mental health assessment may be required if the patient presents with changes in behaviour or mood, or loss of skills.

Immunisations

All individuals with Down’s syndrome should be offered routine immunisation in line with local policy.

In addition, individuals with Down’s syndrome should be considered for annual influenza vaccination given their increased risk of infection, especially if they have chronic cardiac or respiratory disease.

The pneumococcal vaccine should be considered in anyone with Down’s syndrome over the age of 2 years who has either had no pneumococcal polysaccharide vaccine before, or only had the pneumococcal conjugate vaccine (Marder, 2014).

Treatments and therapies

There is no cure for Down’s syndrome; however, early interventions can improve functional outcomes.

This will include assessment and intervention by physiotherapy, occupational therapy and speech and language therapy teams. In addition, any child with Down’s syndrome should receive both psychological and educational support.

KEY POINTS

Down’s syndrome is a common chromosomal disorder characterised by intellectual impairment, dysmorphic facial features and other distinctive phenotypic traits

Most cases of Down’s syndrome are not inherited, and are caused by a failure of chromosome 21 to separate during egg development

The risk of Down’s syndrome dramatically increases as maternal age increases over 30 years

Antenatal screening to detect Down’s syndrome is offered to all pregnant women.

There are several complications and co-morbidities associated with Down’s syndrome, and an annual health check in primary care is recommended

Quality of life and life expectancy is increasing for individuals with Down’s syndrome

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