Down syndrome is a genetic disorder that affects a baby’s normal physical development and causes mild to severe learning difficulties.

It usually develops when a baby is still in the womb (uterus) and affects about 1 in 1,100 births worldwide.

More males are affected than females and people born with Down syndrome have a higher risk of developing other conditions (see below).

During their first year of life children with this condition are very vulnerable usually because of other complications. But after that the average life expectancy is approximately 60. This could well rise with medical improvements.

Symptoms Of Down Syndrome

The symptoms may affect someone in many different ways. But the most obvious is the physical symptoms.

Physical appearance may include:

• eyes that slant upwards
• small ears
• flat back of head
• small mouth
• protruding tongue
• flattened nose bridge
• white spots on the iris (the coloured part of the eye), known as Brushfield spots
• short fingers
• broad hands with a single crease across the palm
• loose skin on the back of the neck
• loose joints (babies in particular may seem ‘floppy’)
• poor muscle tone (hypotonia)
• low birth weight
• vertical skin folds (epicanthic folds) between the upper eyelids and inner corner of the eye

Other symptoms:

Learning Difficulties:

Children will have learning difficulties, which can range from mild to serve. These can include:

• memory problems – both short-term and long-term memory
• concentration problems – many children have low attention spans
• difficulty problem solving
• difficulty understanding the consequences of their actions

Delayed development:

Physical and mental development, these may be slower in developing and can include:

• Being below average height
• Learning to crawl and walk
• Learning to speak
• The ability to learn how to read
• Learning the social skills

Other Conditions That Might Arise

1. Autism septum disorder
2. ADHD (Attention Deficit Hyperactivity Disorder)
3. As teens they may also develop depression and OCD (Obsessive Compulsive Disorder)
4. Congenital heart disease
5. Sight and hearing problems
6. Thyroid problems
7. Sleep apnoea
8. Obesity
9. Gastrointestinal (GI) defects: digestive problems or celiac disease, may be increased.
10. Immune disorders: increased risk of developing autoimmune disorders and infectious diseases.
11. Spinal problems: They may have a misalignment of the top two vertebrae in the neck (atlantoaxial instability). This condition puts them at risk of serious injury to the spinal cord from over extension of the neck.
12. Endocrine problems
13. Dental problems
14. Seizures
15. Ear infections
16. Alzheimer’s disease: the most common form of dementia
17. Dysphagia: Many older people who have Down syndrome will develop problems with eating, drinking and swallowing.

For people with Down syndrome, getting routine medical care and treating issues when needed can help with maintaining a healthy lifestyle.

The Causes Of Down Syndrome

Down syndrome is a genetic condition that occurs as a result of an extra chromosome known as chromosome 21. Chromosome 21 can be affected in three main ways, leading to the three main sub-types of Down syndrome:

Full trisomy 21 Down syndrome is the most common type of Down’s syndrome (94% of all cases).

Mosaicism Down syndrome is the least common type of Down’s syndrome (2.5% of all cases) and the symptoms tend to be milder and less wide ranging.

Translocation Down syndrome is caused when a piece of chromosome 21 attaches itself to another chromosome in a cell. It accounts for 3.5% of cases and the symptoms are similar to those of full trisomy 21 Down’s syndrome.

Other causes may include:

• A smaller risk with every pregnancy.
• Hereditary. (runs in families)
• Mother’s age increases the risk.
• Environmental factors have also been suggested by studies.

Diagnosis

Antenatal screening may be offered. But this cannot diagnose conditions such as Down syndrome. It can determine the likelihood of your baby developing the syndrome.

If the risk is high, further testing can be arranged know as ‘combined test’. It combines a blood test and ultrasound scan known as nuchal translucency. This scan focuses on measuring the space between the spine and the nape.

There are two types of test that can help to diagnose potential health problems or conditions while your baby is still in the womb. These are chorionic villus sampling (CVS) and amniocentesis. These may result in complications, but your GP or midwife can discuss this further with you before you have them.

Children may of course be diagnosed after birth. This will be firstly based on the child’s physical appearance. Then on a blood test to see if an extra chromosome 21 is present.

Treatment

There is no cure for Down syndrome. But there are a number of interventions that can help someone with the condition to lead a healthy, active and more independent life.

Early intervention for infants and children may make a major difference in improving their quality of life. Because each child is unique treatment will depend on individual needs and the stage they are at in life.

Interventions and regular monitoring is important and will be designed to include a multi-team approach which will cover healthcare, education, counselling and treatments, such as speech therapy and physiotherapy.

The care team will work in tandem with the parents. These will include:

1. The families GP
2. Teachers
3. Physiotherapists
4. Speech and language therapists
5. Occupational therapists
6. Dietitian
7. Social workers
8. Audiologist
9. Ophthalmologists
10. Dentists
11. Cardiologist and other specialists.

This is a lot of people for a parent to deal with and you will need support. In Ireland Down Syndrome Ireland offer great support for the whole family. If you live in another country a similar group will be available to you.

As I’ve said a parent needs to make a lot of important decisions about their child’s treatment and education. Building a team of health care providers, teachers and therapists you trust, as a parent, will help you make these decisions with the best knowledge and support available.

Living Independently

With help and support many people with Down syndrome can live an active and independent life. They can attend mainstream school, further education, gaining employment and living independently.

Support For Parents.

Counselling:

Getting any disability diagnoses is very hard for a parent. But counselling will allow you to express your mixed emotions and put things into perspective.

The emotional impact on parents can be huge and you will go through a wide range of emotions including fear, sadness, guilt, shame, numbness and confusion. You need time to talk through these with an expert.

Remember there is no right way to respond to this type of news. But talking it through and getting the right information will help. Counselling can be very helpful particularly in the early days. But it is never too late to look for this type of support for yourself or any other family member.

Join a support group:

Such as Down Syndrome Ireland. This helps you get valuable information, support and let’s you know you are not alone in this situation. Parents of disabled children are a wealth of information on how you can help and support your child. They are also exactly the right people to talk through your concerns for your child’s future.

Online support groups are also good.

Learn everything you can:

The best antidote for fear and worry is information, as well as support. Find out everything you can and don’t be afraid to ask questions of any of the specialist that are looking after your child. Always keeps notes (including your observations) and questions/replies, keep these together in one file for ease of access.

Make sure your child’s supports/interventions are in place.

As I’ve said you will be dealing with a lot of different specialists. Know what they do and what they can help your child with.

Assessment of Need in Ireland In Ireland, parents of any child born after 1st June 2002 may apply to the HSE for an Assessment of Need under the Disability Act, if they think that their child may have a disability.

Your first point of contact is your local Assessment Officer who is responsible for your child’s assessment. Each Local Health Office has an Assessment Officer. They can assist you with your child’s application and help support you through the process. The Assessment Officer is responsible for issuing your child’s assessment report.

Applications must be made in writing on a standard form which is available from your Local Health Office. Call the HSE information line 1850 24 1850 or check out www.hse.ie for a list of Local Health Officers in Ireland.

Your child’s assessment must start within 3 months from when the completed application form is accepted by the HSE. It must be completed within a further 3 months from the date on which the assessment commenced.

Children with disabilities in Ireland are also covered under the Education Act 1998 and the EPSEN Act 2004

It’s never too early to access or look at educational options:

Learn what you can about school options and know what your child’s rights and entitlements are. Understand what an IEP (Individual Educational Plan) and ISP (Individual Support Plan) is and who is responsible for putting these together. 

Participate in family activities:

Don’t lock yourself off from family outings or other social activities. You also need time with other children and your partner. Yes your disabled child requires a lot of looking after and you will have a lot of appointments to attend but you need time outside of this too.

Self-Care:

As a parent of a special needs child you will be under more stress than normal so taking time for yourself will be especially important. You suffering from burn out will not help your child. There is a blog here on this topic.

Encourage independence:

With support and help your child can play to their strengths. Encourage them by teaching them skills that can play to their strenghts no matter what that is. These can include packing their own lunch, managing hygiene and dressing, and doing light cooking and laundry.

Prepare for the transition to adulthood:

By encouraging them as early as possible you are also helping them transition into adulthood. Whether that is living independently, at home or in a group home. Help them explore their options for work and social and leisure activities too.

Manage your expectations:

Expect a bright future, your expectations will affect how they live in the future. There is nothing that says they can not live fulfilling lives. You are not alone here in your fears, all parents of disabled children fear for their child’s future. Speaking to a therapist will help you with this.

Support Groups

1. Ireland https://downsyndrome.ie/
2. UK https://www.downs-syndrome.org.uk/
3. USA https://www.ndss.org/
4. Canada https://cdss.ca/
5. Australia https://www.downsyndrome.org.au/
6. New Zealand http://www.nzdsa.org.nz/

Work With Me.

Remember you are allowed to ask for support. No one is an island. If you need extra support then you can also work with me. We all struggle with stress and overwhelm from time to time. If you find this has become a problem for you and you’d like some support then schedule an appointment with me.