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Down syndrome
Types Indications Additional health problems Developing speech and language Social and emotional development Medical difficulties Factors for you to consider Additional developments
Introduction
First described in 1866 Genetic condition – extra chromosome Learning disability and may have some
physical difficulties e.g. heart problems In the UK it occurs in about 1 in 700 births It occurs in all social, economic, cultural,
religious and racial backgrounds It is not a disease and children do not suffer
from Down syndrome
Types
3 different types but the effects on the child are very similar Standard trisomy – 95% of cases; an accident
of nature; 47 chromosomes and not 46; Translocation – 2% of cases; 46 chromosomes
but one of the parents passes on an abnormal chromosome 21
Mosaic Down syndrome – 2-5% of cases; some of child’s cells have 46 chromosomes and some have 47 chromosomes; effects of condition less severe
Indications at birth
Floppy; poor muscle tone Small mouth; highly arched palate and protruding
tongue Flattened nasal bridge Low hairline Eyes slant upwards and outwards; epicanthic folds Ears are small and low set Broad hands with short fingers; one crease across
palm Feet are short and broad with a deep cleft between
the first and second toe extending as a long crease on the side of the foot
Possible additional health difficulties
Hearing – vulnerability to ‘glue ear’ Vision – possibly a squint Physical development – may be smaller Tendency to gain weight Underdeveloped immune system in
early years Heart problems - 40%; half of these will
require surgery
Diagnosis
The risk of having a child with Down syndrome increases with maternal age
Increases if you already have one child with Down syndrome
Genetic counselling often advised Tests during pregnancy
Developing speech and language
Small nasal passages and sinuses; small mouth cavity; thick tongue that tends to protrude – leads to breathing and articulation difficulties
Make sure child can watch your face and mouth
Be patient Sign system can be very helpful Liaise with the speech and language
therapist
Social and emotional development
Children with Down syndrome are all different! Always praise and acknowledge good
behaviour – do not constantly criticise Be realistic in your expectations – the pattern
of development will be the same as a ‘typical’ child but will be slower
Always explain simply and clearly what you expect
Be consistent in your approach Remember that you are an important role
model
Factors to consider for the early years worker
Essential that you motivate and encourage child to regard learning as fun and pleasurable
Watch out for any over protection by other children
Watch out for any bullying or teasing
Factors continued Only ask for one thing at once Break down every task into the smallest unit Check the child understands what you want-
demonstrations accompanied by simple instructions work best
Do not assume that the child understands basic terms such as ‘over’ and ‘under’, ‘top’ and ‘bottom’
Always allow the child enough time If teaching the child something new, make sure there
are no or minimal distractions Gym clubs, ballet classes and swimming can all help
gross motor control and development and community inclusiveness
Use a lot of encouragement and positive feedback
General implications
Tendency for society to stereotype children with Down syndrome
It is important that you care for every child as an individual, balancing all needs and valuing and understanding differences – make sure you do not reinforce stereotypes
Increasingly leading full and independent lives and making positive contributions to society
Additional developments
New techniques of detecting Down syndrome
Cosmetic surgery Support groups – down syndrome Ireland
Introduction
Genetic disorder Seven genes on Chromosone 15 are
missing or partially missing Incidence is between 1 in 12,000 and
1 in 15,000 live births Affects both sexes and all races
Causes and diagnosis
Normally contributed to father Diagnosed by genetic testing Rare to reoccur in same family But all families should receive genetic
counselling
Clinical features and signs
In utero Reduced foetal movement Frequent abnormal foetal position
At birth Often breech/caesarian birth Lethargy Hypotonia Feeding difficulties Difficulties establishing respiration Small gonads
Clinical features and signs
Infancy Failure to thrive (continued feeding
difficulties) Delayed milestones/intellectual delay Excessive sleeping Strabismus Scoliosis (often not detected at birth)
Clinical features and signs
Childhood Speech delay Poor physical co-ordination Over eating from age 2-4 years (different from
earlier difficulties) Excessive weight gain
Adolescence Delayed puberty Short stature Obesity
Clinical features and signs
Adulthood Infertility Small gonads Sparse pubic hair Obesity Hypotonia Learning difficulties Proneness to diabetes Delayed motor
development
Prominent nasal bridge
Small hands and feet Soft skin that is easily
bruised Excess fat especially
in central part of body High narrow forehead Picking at skin Almond shaped eyes
Intelligence
May have learning difficulties Show an unusual cognitive profile
Strong in visual organisation and perception (including reading and vocabulary)
Spoken language generally poorer Skill in completing jigsaws Poor with auditory skills Poor at maths and writing
Treatment
No cure Growth hormone replacement therapy Early intervention – team based
approach Highly structured learning environment Controlling of food intake
Introduction
Affects between 1-4% of children – mainly boys It occurs despite normal teaching and ability In schools may be called ‘specific learning
difficulty’ It mainly affects one or more areas of reading,
spelling and written language In the past children may have been perceived as
being lazy or stupid Should not be used as a handy cover-all label for
children with minor problems of reading and writing
What happens
Condition is not fully understood No genetic pattern of inheritance yet
often found running in families Premature babies and those who have
a difficult period immediately after birth are most at risk
Can cause stress and anxiety for a child leading to low self esteem and a hatred of school
Features Speech difficulties
Jumbled words and phrases Difficulties naming colours Confusion with directional words e.g. up, down, right, left
Movement control Delayed fine motor skills General clumsiness Catching, throwing, riding a bike etc.
Memory and sequencing Rhymes, days of the week, months, alphabet etc.
Other areas Boredom, shy, withdrawn, unco-operative, but may enjoy chatting to
others Creative
Who makes the diagnosis?
Parents School Educational psychologist GP Speech and language therapist Hearing and sight tests should be carried
out to exclude any other possible difficulties
Care
Good practice for a child with dyslexia is also good practice for any child, but child will need more one to one attention
Will need time and patience and to be able to talk about problems as they happen
Use appropriate language and repetition Boost self confidence by praising
achievements Listen carefully to the child
Suggested activities
Rhyming songs Clapping out rhythms Encourage games to develop sequencing Picture lotto Sorting games Encourage co-ordination with large ball games
and balancing games Top, bottom, right and left Painting Dressing games
Ongoing management
Carefully organised and structured Multi-sensory Systematic with lots of reinforcement Provide a framework of acceptable codes
of behaviour Individualised learning programme May get very tired due to the need to
concentrate more than most children
General implications and additional developments
Needs lots of encouragement to practise skills
Will take longer to reach goals Intelligence is the same so may shine in
other areas Many child care workers feel that they
needed more knowledge and confidence in working with these children
Alternative therapies
Main approach is the use of teaching strategies e.g. multi-sensory
Movement based therapies Eye related therapies Auditory therapies Nutritional supplements/diet
Introduction
Most common serious neurological condition In epilepsy there is an interruption in the
chemical activity in the nerve cells in the brain and a ‘fit’ or seizure can result
Seizures can occur that are not epilepsy i.e. febrile convulsions
About 6 in 1000 children have epilepsy and 80% attend mainstream school
Slightly more girls than boys have epilepsy
What happens?
Electrical changes in the brain caused by something in the brain itself -
Antenatal infections Family history Jaundice Some drugs taken in pregnancy
What happens?
Electrical changes caused by factors external to the brain –
Temporary lack of oxygen Photosensitivity Severe infections – brain infections Certain severe diseases
Types of seizuresOver 40 different types – classified as
generalized or partial seizures. They need to be managed in different ways.
Generalized seizures Tonic/clonic – ‘grand mal’ Absences
Partial seizures Simple partial seizures Complex partial seizures
Diagnosis
Pattern of repeated fits Electroencephalogram (EEG) is used
to confirm. Electrodes are placed on various points of the head and the brain activity is monitored – painless and harmless
Care
See first aid leaflet Be careful of your reaction for the sake
of the child and other children The child may not remember the
seizure only sensing what has happened from others around them
Ongoing management
Medication – but the success of this depends on several factors: Type of epilepsy Accuracy of the diagnosis Accuracy of the treatment The child’s response to the medication Additional problems
Ongoing management
Seizures can be controlled in 80% of cases Occasionally seizures lessen as the child
grows older A child needs to be involved in the
management of their own treatment and see medication as a positive part of remaining healthy and not part of an ‘illness’
Beware of negative images born out of fear and ignorance
Management in school/pre-schoolThe disabling effects of epilepsy can be lessened if there is good communication between professionals, parents, the child and their friends. A teacher or pre-school worker must have full information on:
Type of epilepsy Frequency of seizures Speed of recovery following a seizure The most appropriate management for the child How the child feels about their epilepsy Information about triggering factors Details about medication including any possible side
effects
General implications
Over protection will affect a child’s self esteem
Answer the child any other children’s questions honestly
Activities such as swimming and climbing? Identification bracelet Medication – careful storage; dosage
checked; possible side effects known
General implications
Additional help must be sought in the following situations; Child has injured themselves during a
seizure Child has trouble breathing after a seizure One seizure immediately follows another,
or the seizure lasts longer than 5 minutes The seizure lasts longer than usual
General implications Do not have low expectations Epilepsy should not be used as an excuse
for attention seeking or any other unacceptable behaviour
Possible causes of underachievement Frequent major seizures Frequent ‘absence’ seizures Severe epilepsy – disorganised brain activity Incorrect or excessive drug use – sleepiness Rapid growth can affect amount of drug
needed
Additional developments
Epilepsy and surgery Useful if scarring has occurred e.g. from
meningitis or head injury Only undertaken after extensive
investigation Specific stimulation, via a nerve in the
neck, is offered to some older children Most children manage their epilepsy well
through medication