What Is Down’s syndrome
- A Genetic condition that causes mild to serious physical and mental problems
- Extra chromosome (21)
- Three types:
- Trisomy 21 (every cell has an extra copy of chromosome 21)
- Translocation downs syndrome (Each cell has a part of chromosome 21 attached to another chromosome)
- Mosaic downs syndrome (only some of the cells carry an extra chromosome)
Presentation of Down’s Syndrome
Common physical signs
- Decreased muscle tone at birth
- Difficulty with endurance in ALL activities
- Poor ability to assume and maintain positions
- Excess skin at the nape of the neck
- Flattened nose
- Separated joints between the bones of the skull (sutures)
- Single crease in the palm of the hand
- Makes fine motor activities more difficult
- Difficulty assuming and holding various pinches – fatigue easily
- Small ears
- Small mouth
- Upward slanting eyes
- Wide, short hands with short fingers
- White spots on the coloured part of the eye (Brushfield spots)
- Cognitive impact
- Mild to moderate cognitive delay
- Hearing difficulties
- Cardiac problems – regular check ups with a cardiologist – 50% of children present with a cardiac defect
- Visual difficulties – squint, cataracts, crossed eyes, visual processing difficulties, difficulties with eye movements due to low tone in the optic muscles (60 – 80%) Bull et al. (2022)
- Visual difficulties impact the processing and output during class activities
- Can impact playground engagement
- Impacts gross motor skills and praxis
Essentials for managing Down’s syndrome:
- Early intervention
- Physiotherapy /Occupational Therapy /Psychosocial intervention
- Environmental adaptions and modifications
- IEP’s, job training and independence in Activities of daily living
Areas of focus:
- Postural control
- Visual Difficulties
- Behaviour
- Classroom adaptations
1. Postural Control:
Important referrals for Postural control:
- Physiotherapist
- Speech therapist
- Occupational Therapist
2. Visual Difficulties
Presentation of visual difficulties:
Refractive errors:
- Hyperopia (far sightedness)
- Myopia (near sightedness)
- Astigmatism (blurry vision)
Visual acuity difficulties:
- Blurry vision, difficulty with seeing detail
Kerataconus:
- Difficulty with close work- out of focus
- Better with contacts- difficult for children to use the contacts
Cataracts:
- Essential early detection
- Clear image is not presented to the child in the correct way: visual learning is affected
Nystagmus:
- involuntary side-to-side, up and down, or circular movement of the eyes
- May disappear by itself
Cortical visual impairment
- Colour preference (red and yellow, borders) – can use colour as an anchor and to assist with recognising detail in an image
- Need for movement to focus
- Visual latency
- Visual field preferences
- Difficulties with visual complexity
- Need for light
- Difficulty with visual focus in the distance
- Atypical visual reflexes
- Difficulties with visual novelty – look for familiarity
- Absence of visually guided reach – affects praxis (automatic reach)
Important referrals for Visual Difficulties
- Functional/behavioural visual specialist
- Ophthalmologist
- Occupational Therapist
3. Behaviour
Very Common
- 2 in 3 children with Down’s syndrome have difficulty with managing their own behaviour
Reasons:
- Difficulty controlling impulses
- Trouble communicating needs
- Difficulty with judging social environments and settings –
- Sometimes play too rough
- Trying to figure out play equipment so tend to grab or occupy certain play items
- Difficulty sharing
- POOR work endurance
- Defiance
Important Referrals:
- Psychologist
- Speech Therapist
- Occupational Therapist
4. Classroom Adaptations:
Difficulty with executive function skills
- Money Management
- Time management
- Task evaluation
- Working memory
- Impulse control
Toileting difficulties – either from awareness, emotional response or physical difficulty with the task
Delay in milestones
Difficulty retaining information: REPETITION NB
Written by: Nicky Forssman
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