Image of a down syndrome child and his mother

Down Syndrome

The chromosomal disorder Down syndrome (Down's syndrome, trisomy 21, trisomy G) is caused by the presence of part or all of a 21 st chromosome. Named after the British physician John Langdon Down who discovered the syndrome in 1866, the disorder has been identified by Jerome Lejeune in 1959 as a chromosome 21 tisomy. Characterised by a combination of minor and major changes in structure Down syndrome is concerned with impairment of cognitive ability and physical growth, as well as a particular set of facial characteristics.

Down syndrome can be identified before birth, by using amniocentesis during pregnancy. Generally those with Down syndrome have below average cognitive ability, as well as featuring mild to moderate developmental disabilities. A small percentage of suffers have been found to have a severe to profound mental disability, with the incidence of Down syndrome estimated at 1 per 800 to 1,000 births, however it has been noted that Down syndrome children are more common with older mothers.

Effects of Down Syndrome

Common physical features of Down syndrome include microgenia (an abnormally small chin), an unusually round face, macroglossia (protruding/oversized tongue), almond-shaped eyes that is caused by an epicanthic fold of the eyelid, upslanting palpebral fissures (separation between upper and lower eyelids), shorter than normal limbs, a single transverse palmar crease, poor muscle tone and a larger than normal space between toes.

There are also a number of health risks associated with individuals suffering from Down syndrome, which include a higher risk of congenital heart defects, gastroesophageal reflux disease, sleep apnea, reoccurring ear infections and thyroid dysfunctions.

Down syndrome is often the result of several different genetic mechanisms, which can result in a vast difference of signs and symptoms between individuals. Before a child is born you cannot detect the precise symptoms the individual will suffer, but after birth and through childhood the symptoms will become more apparent and develop.

A common symptom of Down syndrome apart from physical characteristics is the language skills that illustrate a difference between understanding and expressing speech, as well as a slight speech delay. Fine motor skills are delayed and lag behind gross motor skills, however these effects are quite variable, with some children beginning to walk at around 2 years of age and others beginning to walk at the age of 4.

A common treatment in Down syndrome is physical therapy, a treatment proven to promote enhanced development of gross motor skills. Growth parameters such as height and weight are generally considered to be smaller in Down syndrome children than in other individuals of the same age, with adult Down syndrome suffers having a short stature throughout life.

An initial examination of a newborn infant with Down syndrome is usually concerned with the physical signs more commonly similar amongst Down syndrome sufferers. An echocardiogram (heart ultrasound) is carried out immediately on Down syndrome infants in order to identify if a congenital heart disease is present.

As well as this a complete blood count is performed which helps to identify pre-existing leukemia as well as a hearing test that uses brainstem auditory evoked responses (BAERS) is performed to understand any hearing deficits. Thyroid function is also tested. Using Early Childhood Intervention from birth can help to coordinate and plan effective strategies for the individuals learning and development phases through childhood.

In early childhood a number of Down syndrome children have been allocated plastic surgery, a move advocated by the fact the surgery will reduce facial features that are associated with Down syndrome. This is thought to decrease social stigma as well as leading to a better quality of life.

Using plastic surgery on Down syndrome children is very uncommon and often met with extreme controversy. Through identifying the best methods of teaching an individual in early childhood, cognitive development can produce variable results in children.

It has been noted that a large number of children with Down syndrome have a wide range of abilities, with school successes varying greatly, leading to the argument that each child should be evaluated and assessed on an individual basis. It is not uncommon that the cognitive problems in Down syndrome suffers is also found in typical children, which offers greater access for parents to access general programs offered throughout schools.

Down syndrome sufferers each have a different degree of language and communication skills, which differ greatly amongst individuals. As it is routine to assess whether an individual has a hearing problem, hearing aids can be obtained to help in learning language and speech.

Frequent language assessments aid in the profiling of strengths and weaknesses in learning and is often used in Down syndrome sufferers, as well as individualised speech therapy, which targets speech errors and can increase intelligibility. Using Augmentative and alternative communication (AAC) methods, i.e. pointing, body language, graphics, objects, etc. are proven to be effective and aid in the communication with Down syndrome sufferers, however little research is focused on communication intervention strategies.

Although once controversial, mainstreaming of children with Down syndrome is become less controversial. Mainstreaming is the process by which students are placed into classes with chronological peers. Children suffering from Down syndrome are known to age at a different pace emotionally, socially and intellectually than those without Down syndrome, so the gap between these people will widen.

It is due to these reasons that mainstreaming children with Down syndrome is more acceptable and, quite often, more beneficial. As these children grow and mature, their progress should ideally be plotted on a “growth chart”, which will detect deviations from expected growth. These charts are available with the view that children with Down syndrome can be compared to other Down syndrome sufferers and progress can be noted and acted on.

As well as this thyroid function should be tested at 6 months of age, 12 months and each year thereafter. Ears should be checked for hearing and infection at every doctor visit as well as frequent eye tests taking place. After the child reaches three years of age, an x-ray of the neck should be taken and yearly screenings of sleep apnea should also be performed.