Down’s Syndrome

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

Glenoaks Remedial and Special Needs School
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