Introduction:
Human cells normally contain 23 pairs of chromosomes. Chromosomes are the parts of body cells that carried inherited information the characteristics that are passed to you from your mother and father.
A chromosomal disorder means there is a change in the normal number of chromosomes. This can mean that physical and mental development is impaired and can result in learning difficulties and health problems.
Named after the first person that described it Dr.JL DOWN, the condition affect one in every 1,000 people. Some are more severely affected than others.
Symptoms
People with Down syndrome have lots of different characteristics.
There are thought to be up to 120 feature of down's syndrome but many children have no more than six on seven of them.
Physical Feature
* Babies with Down's syndrome usually weigh less than average at birth and are usually shorter than average as adults.
* Children with Down's syndrome often have a rounded face, with a flat profile (the face looks flat when you view it from the side)
The back of the head is slightly flattened this is called brachycephaly) and the eyes tend to slant up wards.
* There are small folds of skin that run vertically between the inner corner of the eye and the bridge of the nose (peicantnic folds) and this can gives the impression of crossed eyes (squint). There may be white or yellow speckling around the rim of the iris (coloured part of the eye). These are called brush field spots.
* Children with Down's syndrome often have straight, soft hair. As children they may have an extra fold of skin over the back of the neck and as adults, short broad necks.
* People with Down’s syndrome often have smaller than average mouth with a bigger than average tongue than may stick out.
* The hands may be broad with short fingers; the little finger may only have one joint instead of two and the slightly curved. The feet are often stubby with a wide space between the first and second toes.
* Many people with Down’s syndrome have poor muscle tone (hypotonic). This muscular floppiness occurs in the limbs and neck and usually improve with age.
Children with Down’s syndrome learn new skills more slowly than other children and generally develop at a slower rate, meeting their developmental milestone, such as walking or talking later. They may progress in stops and starts and may not fully catch up with other children their age. Often a child with Down’s syndrome will not start to use language until his or her third year and may use some sign language before talking.
Causes
We inherit genes from our parents and they determine our characteristics. Our genetic code is found in parts of our cells called chromosomes. Down’s syndrome is caused by an number 21 chromosome. It can come from either the mother on the father and there is no way to predict it.
The gene that the extra number 21 chromosome contain because extra protein to be made, and this disturbs normal growth. Cells do not divide as rapidly as normal and this leads to a smaller than average baby. As the baby develops, cells do not move around in me usual way which means that the body parts do not form normally, especially the brain. This means that the baby will have fewer brain cells and a different brain formation.
Trisomy - 21 in 94% people with Down’s syndrome have an extra chromosome 21 in every cell of their body.
Translocation - in 4% of cases, Down’s syndrome is due to an extra part of chromosome 21 (rather than a whole extra chromosome).
Mosaicism – in 2% of cases, there is an extra whole 21 chromosome in only some of the body cells and the rest of the cells are normal.
Treatment
Medical Management
Principles of medical care
Down’s syndrome is one of the few causes of intellectual disability in which there are many specific medical issues related to the syndrome these include higher prevalence of
* Hypothyroidism
* Visual and auditory deficits
* Congenital heart defects
* Gastrointestinal malformation
* Epilepsy
* Atlantoaxial instability
* Obstructive sleep apnoea
* Depression
* Dementia of Alzheimer type 2
* Immunodeficiency and infections
* Coeliae disease
* Leukemia
Neonatal care (0-6 weeks) recommendations
* An early pediatric review, inducing ophthalmology and cardiology examination.
* Liaison with a trained lactation consultant it hypotonic causes feeding difficulties.
Infancy (6 week – 1 year) recommendations
* "A well child check" at about 6 week can to set a base line for that child’s health and to allow the doctors to support the parents in coming to terms with their Childs disability.
* Annual biochemical screening for hypothyroidism.
* Auditory brainstem evoked response within first six months.
* Immunization should be given with the usual doses of vaccines at the usual intervals.
* Use special growth chart
* Referral to useful support services such as early intervention, therapeutic services (physiotherapy, occupational and speech therapy).
Pre-School and Kindergarten age (1year – 5 year) recommendation
* Annual hearing test and tympanometry.
* Annual opthalmological examination.
* Regular dental check.
* Continue annual biochemical screening for hypothyroidism.
* Kindergarten most children attend mainstream kindergartens and enjoy the socializing experience.
* Assessment for school readiness may require specialist advice.
Primary School age (5-11 years)
* Biannual screening for visual and auditory impairments.
* Annual otoscopic examination.
* Preventative dental care.
* Atlantoaxial instability care should be exercised with procedure that involve hyperextension of the neck. Symptoms which could be due to spinal cord compression such as neck pain, torticollis, Altered gait, increased reflexes, clounds up going plantar reflexes, sphincter disturbance, on unexplained behaviour change warrant through neurological review and consideration MRI.
Adolescence (12-18 years):
1. Sexuality and fertility
* Preparation for menstruation should begin before mauarche, which occurs at the usual time, with careful instruction and demonstration using sanitary products and the girl’s own body.
* Boys with Down’s syndrome are usually presumed to be infertile. However education on protective behaviour and appropriate sexual expression is still vital.
* Atlangoaxial instability-continue surveillance for neurological symptoms of spinal cord compression.
* Obesity and obstructive sleep apnoea.
2. The establishment of good diet and exercise habits is important to avoid obesity.
3. Obstructive sleep apnoea is more common in people with down’s syndrome and this is worsened by obesity. It can cause headache, irritability somnolence and behaviour charge.
Medical Management Intervention
Children with Down’s syndrome also are at risk for
1) Weight problems
A registered dietitian can provide guidance with mean planning and offer helpful diet strategies for your child. Regular exercise is also important.
2) Behaviour Problem
Although children with Down’s syndrome are often perceived as being very mild-tempered they are at risk for developing behaviour problem. Your doctor (or) a counselor can help you design strategies to improve problem behaviour and teach appropriate socialization skills.
3) Depression:
Watch for signs that your child may be depressed (or) having mood problems, especially during the teen and adult years.
Treatment to teach independence and self sufficiency is influenced by your child’s intelligence level and physical abilities.
i) Walking and other motor development milestones
You can help your baby and young child strengthen muscles through directed play. As your child gets older, you can work with a physical therapist and your doctor to design an exercise program to help your child maintain and increase muscle strength and physical skills.
ii) Self feeding
You can help your child learn to eat independently by sitting down together at meals. Use gradual steps to teach your child now to eat, starting with allowing the child to eat with his or her fingers and offering thick liquids to drink.
iii) Dressing
Teach your child how to dress himself (or) herself by taking extra time to explain and practice.
iv) Communicating
Simple measures, such as looking at your baby while speaking (or) showing and naming objects, can help your baby learn to talk.
v) Grooming and hygiene
Help your child learn the importance of being clean and looking his (or) her best. Establish a daily routine for bathing and getting ready.
Speech therapy
Speech language pathologists assess, diagnose, treat, and help prevent speech, language and communication disorder.
Learn to communication
Children with Down’s syndrome are often taught sing language to enhance communication and bridge the gap between expressive language and receptive language. A speech therapist can provide specific suggestion based on your child’s abilities. Usually, this includes detailed information for a home program to help your child practice speaking.
Surgical Management
There are no surgical management for Down’s syndrome
* However, surgery may be necessary to correct a defect caused by diseases associated with this condition such as
* Surgery for heart defect
* Intestinal blockages
* Spinal problems
Using plastic surgery to normalize facial features associated with Down syndrome.