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Down Syndrome

  • February 6, 2024
  • Posted by: info@glenoaks2022
  • Category: Articles
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Down Syndrome is a genetic condition that causes mild to serious physical and mental problems. Children who have Down Syndrome have an extra chromosome (21). There are three types of Down Syndrome. Trisomy 21 is where every cell has an extra copy of chromosome 21. Translocation Downs Syndrome is where each cell has a pat of chromosome 21 attached to another chromosome. In Mosaic Downs Syndrome cases, 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:

  1. Postural control
  2. Visual Difficulties
  3. Behaviour
  4. Classroom adaptations

Postural Control:

WHAT YOU SEE REASON ADAPTIONS TO TRY
Swinging legs/hooking legs Short stature, poor pelvic control Short block under feet, cushion behind the child’s back
Lying on hands to work Poor endurance, weak trunk control, needs to provide self with external stability Small movement breaks within tasks- make sure section or step is completed. Can use a slant board but just watch for signs of fatigue or too much shoulder activation
Complaining of being tired, work avoidant Poor endurance, difficulty holding positions for task, additional components needed- fine motor control etc Small breaks, adaptions to work- typing on computer or ipad. Think of what the outcome is and reduce physical components of task
Not wanting to communicate or engage Poor trunk control and poor oral motor control, low endurance Change positions- provide more support to trunk

Important referrals for Postural control:

  1. Physiotherapist
  2. Speech therapist
  3. Occupational Therapist

 

  1. 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)
WHAT YOU SEE REASON ADAPTIONS TO TRY
Looks really closely at their work Difficulties with visual complexity, acuity or figure ground. By moving closer they are able to see more detail Highlight different areas of work with colour. RED to highlight salient features of an image or the main focal point
Tilts head when trying to focus in an activity Difficulty with central or peripheral vision. Using movement to gain more clarity, needing light Try an incline. Use tablet or computer where possible, reduce clutter on desk. Increase size of font or pictures
Prefers colour within a task and will always go there first Colour preference and complexity difficulty Use images and colour where needed

Highlight or outline most important focal point with colour

Use bold letters
Easily distracted with background movement Dorsal stream affected- needs movement to focus and to provide more information Reduce background movement with positioning: usually in front of the class or against a wall
Can’t find important information on the page Possible acuity difficulty as well as difficulty with the ventral stream Increase size of font, bold or outline important information
Struggles to use borders in their work- does not stick to lines Spatial planning difficulties, lines blend in with the page Draw indents on the lines for textural fb, Highlight border or starting point. For colouring in use wiki stix or glue outlines, colour blocks next to one required so they can pick up a contrast

Important referrals for Visual Difficulties

  1. Functional/behavioural visual specialist
  2. Ophthalmologist
  3. Occupational Therapist

 

  1. 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
WHAT YOU SEE REASON ADAPTIONS TO TRY
Avoids work or participation when there is a change in the class day Difficulty adapting to change in routine. Unsure of what to expect- lots of processing required to adapt ROUTINE IS ESSENTIAL

When there is a change- provide visual prompts (visual schedule) to provide cues as to what to expect

Include ADL activities within routine to encourage repetition of these tasks to achieve more success
Defiant within activities

Will often use NO due to fear or uncertainty

 Unsure of what is coming next in the day.

Unsure of how to navigate through the activity or equipment

 Reward positive engagement

Reward for completing set of instructions

Redirect attention

Movement breaks

Practice and repetition
Struggling to complete tasks- stops half way through Poor task concept

Unable to always identify end point

Fatigue and poor endurance

 Provide clear end point for what is required even mini step

Movement breaks

REWARD
Poor initiation or engagement Poor praxis

Fatigue

Defiance

 Provide choices

Reward small engagement

Break down into manageable steps

Important Referrals:

  1. Psychologist
  2. Speech Therapist
  3. Occupational Therapist

 

  1. 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

Down Syndrome – Nicky Forssman

 

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