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A look at genetic disorders  

  • Down's syndrome
  • Angelman syndrome
  • Prader-Willi syndrome
  • Williams syndrome
  • Rett syndrome

Down's syndrome

Down’s syndrome is a chromosomal disorder. About 600 babies with the condition are born in the UK each year. Diagnosis is confirmed via a blood test called a chromosomal karyotype.

The abilities of children with Down’s syndrome vary enormously, but most tend to be within the mild to moderate learning disability range. Parents of children with Down's syndrome are often concerned that a vulnerable child will be bullied or picked on. Experience suggests that the reverse is often the case; children who have been perceived to be prone to this kind of behaviour have responded by offering support and protection to the less able child, bringing out positive behaviour and increasing self-esteem and self-worth in many who struggled to find any.

Difficulties children with Down's syndrome experience

Children with Down's syndrome have a lot to offer, they are friendly, cheerful, kind and trusting but they will experience a range of difficulties and problems too.

Potential difficulties and disabilities include: poor muscle tone; developmental delay; speech and language may be delayed, and speech is often indistinct, owing to the atypical mouth formation; congenital heart disease; vision disorders; middle-ear problems; and conductive hearing loss.

However, children with Down’s syndrome do develop communication skills and can learn effectively. 

The developmental gap between children with Down’s syndrome and typically developing children widens with age - so children with Down’s syndrome may cope well in mainstream primary schools but find the demands of secondary school problematic.

What helps children with Down's syndrome have? 

  • Time - a child with Down's syndrome will take longer than most to process information.
  • Practice - they require more practice when learning skills. Some learning may never be completely mastered.
  • Teaching methods  - these should include visual as well as linguistic clues to help learning.

A good school will:

  • listen to parents’ concerns;
  • seek outside information from expert sources on the learning and other needs of children with Down’s syndrome;
  • look at your child’s inclusion as a matter of right;
  • seek to offer access to a broad and balanced curriculum;
  • be creative at finding ways to include your child in the whole range of school life.

Schools that are welcoming and committed to inclusion will accept these challenges for what they are, and will look at the needs of your child as a child first.

With sensible differentiation, assessment and tools for measuring and celebrating individual achievement, children with Down’s syndrome can be successfully included throughout their infant and primary education. However at transfer to secondary school only 27 per cent currently continue in mainstream.

Until secondary schools have caught up with their primary colleagues in supporting and celebrating inclusive practice, many children will continue to need good special school placements through to transition into further education. 

With thanks to the  Down's Syndrome Association.


Angelman syndrome

Children with Angelman syndrome (AS) used to be termed ‘puppet children’ because of their characteristic happy demeanour, small head, sometimes inappropriate laughter and stiff jerky movements.

They also have a tendency to extreme thinness. Other characteristics include sleep problems, lack of speech (greater receptive than expressive language), and developmental delay. To date only about 350 cases have been diagnosed in the UK. Some children with AS have been wrongly diagnosed as having an autistic spectrum disorder or cerebral palsy.


Prader-Willi syndrome

Prader-Willi syndrome (PWS) is often characterised by an insatiable appetite for food and tendency to gain weight very rapidly, often leading to serious obesity and associated medical problems.

Characteristics include: poor muscle tone, co-ordination and balance; emotional and social difficulties; immature physical development; immature development of sexual organs (few reach full sexual maturity); and possibly learning difficulties. As with Down’s syndrome, many people with PWS also exhibit characteristic facial and other physical features. These include small hands and feet, almond-shaped eyes, a narrow forehead and a down-turned mouth with a triangular-shaped upper lip.

There is no cure for PWS, although some aspects can be treated. The Prader-Willi Syndrome Association UK recommends the help of a dietitian, paediatrician, physiotherapist, educational psychologist and (if necessary) speech therapist should be sought as soon as a diagnosis is made.


Williams syndrome

Williams syndrome is a rare, non-hereditary chromosome disorder which occurs at random and affects intellectual development. There may be associated physical problems ranging from slight muscle weakness to heart defects.

As with Down’s syndrome people may have a facial similarity. They are characterised by ‘elfin’ features – a wide mouth, turned-up nose with flattened bridge, slightly puffy cheeks and widely spaced irregular teeth. Some may have a squint. Initial signs of Williams syndrome include low birth weight, slow weight gain, below average growth, missing developmental milestones, slow feeding, restlessness, hyperactivity and possible excess vomiting. A raised calcium level is found in some babies.

Older children may demonstrate uninhibited, inappropriate behaviour, and feel compelled to talk to adults but unable to relate to their peers. They may have obsessional interests, a short attention span, exaggerated emotions, emotional immaturity, poor motor skills and learning difficulties but with a high verbal ability. Heart problems are common as all sufferers have a narrowing of the aorta. Most notable of all is a hypersensitivity to noise, becoming distressed by balloons bursting, fireworks exploding or other such loud noises.

Learning difficulties may make mainstream education problematic, but a child may lack the stimuli of verbal communication and social interaction if placed in a special school.


 

Rett Syndrome

Rett syndrome is a complex neurological disorder that affects mainly females and is probably the most common genetic cause of profound intellectual and physical disability in girls, occurring in more than 1 in 10,000 female births. Whilst there is variability in the severity of the disorder, most people with Rett syndrome have profound and multiple disabilities with high dependency needs throughout life.

Typical signs of Rett syndrome

  • Appearing to make normal progress, but with a period of stagnation in development from about the end of the first year until regression occurs.
  • A regression period when skills in speech and hand movement are reduced; this usually occurs between 9 and 30 months.
  • Development of repetitive hand movements such as wringing, patting, clapping, tapping or mouthing.
  • A stiff or clumsy posture or gait, or an unsteady, wide-based gait.
  • A slowing of head growth between 2 months and 4 years.

Other features include:

  • breathing irregularities including hyperventilation, breath holding and air swallowing
  • EEG abnormalities
  • epilepsy
  • with age, muscles become increasingly rigid, and there may be joint deformities and muscle wasting
  • development of scoliosis (curvature of the spine)
  • growth retardation.

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