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: 

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

1. Postural Control:

Important referrals for Postural control: 

1. Physiotherapist 
2. Speech therapist 
3. 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

1. Functional/behavioural visual specialist 
2. Ophthalmologist
3. 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: 

1. Psychologist 
2. Speech Therapist 
3. 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