Heena Gupta, B. Optom

Paediatric Fellow Optometrist, Dr. Shroff Charity Eye Hospital, New Delhi

Introduction

Down syndrome is known as Trisomy 21, an extra copy of the 21^st chromosome present at birth. About 60% of patients with down syndrome have ocular manifestation. Ocular findings (Fig 1) in patients ^(1-8) include a wide range of visual abnormalities due to refractive error, amblyopia, strabismus, nystagmus, lid anomalies like epicanthal folds, upward slanting of the palpebral fissure, and congenital ectropion. Patients frequently have lid infections including blepharitis, blepharon-conjunctivitis, chalazion, and hordeola. Furthermore, patients with down syndrome may have nasolacrimal duct obstruction ⁽⁹⁾ and corneal ectasia, Brush field spots, presenile cataract, glaucoma, and retino-vascular anomalies ^(10,11)

Figure 1:  Eyes of a young child with Down syndrome ⁽¹⁾

Milestone and Behaviour of Children with Down Syndrome 

 Vision plays an important role in the development of communication, interaction, and motor functions.

1. 1. Delays in visual communication (failing eye contact in infants).
2. Delays in the development of eye contact: – Delays in the development of early social behaviours in babies with down syndrome affect patterns of interaction with their caregivers. It is caused by weak or no accommodation or high hyperopia, which can be treated with near correction glasses. ⁽¹²⁾
3. Delay in development of lively communication with a social smile: – Can be noticed during 3^rd month and is the second easily noticeable visual milestone. ⁽¹³⁾
4. Delays in goal-directed hand-arm movements for reaching and grasping:-Observed in 5^th or 6^th months of age.
5. Delays in recognition of facial features: – Observed in ages of 7 and 10 months

Why are developments delayed in these children? 

Children with down syndrome having extra chromosome 21 present with many brain disorders that cause retarded psychomotor development and problems with learning. Structural and functional disorders of CNS may have been influenced by genetic conditions.

Clinical Evaluation :-

Determine the patient’s age and obtain chief complaints, history of present illness including previous eyeglasses prescription, the onset of strabismus/nystagmus, previous external infection, and treatment modalities, previous surgery done.

Visual Acuity Assessment: – Visual acuity is evaluated in patients with down syndrome according to the patient’s intelligence and responsiveness

Strabismus Assessment 

Refractive error Assessment: – 

Anterior Segment Assessment Evaluate cornea for keratoconus, and keratoglobus. Iris Brushfield spots may occur in 90% of patients with trisomy 21.

Glaucoma Assessment: – Patients must be examined for corneal oedema, mega cornea, IOP, and optic nerve cupping.

Generic Counselling for Children with Down Syndrome ⁽¹⁴⁾

Physiotherapy intervention beginning at an early age can help the development of gross motor skills and can assist in the prevention of secondary complications such as joint pain, arthritis, etc. Physiotherapy for children with down syndrome can help :-

• Improve muscle strength
• Facilitate the development and improve the quality of gross motor skills.
• Monitor child’s hip, knee & foot alignment -recommendations for footwear and orthotics, if needed.
• Provide a safe environment for parents and children to work towards specific family goals (Example: going up the stairs into their homes, walking outdoors, throwing a ball, etc.)    

Conclusion: –

Most children with Down syndrome do very well in life. With the appropriate support and medical screening, the life expectancy of people with down syndrome has climbed from 15 to 60 years over the past several decades. 

The take home message: – 

1. Stimulate your baby: – Follow your physical therapist’s recommendations closely and give your baby lots of time.
2. Don’t fret! With the right stimulation, most babies with down syndrome reach all the same milestones as typically developing babies, but in their own time.

 

References 

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