

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: 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