Children & Infants with Albinism



Children & Infants with Albinism

with thanks to Dr James Elder, Ophthalmologist

Albinism

Albinism is an inherited condition. It affects the eyes and skin of some individuals, and only the eyes of others. It results from the body's inability to produce normal amounts of a pigment called melanin.

Children with oculocutaneous albinism, where both the skin and eyes are affected, can present with varying degrees of pigment. Some children have white hair, little or no pigment in the skin, pale coloured eyes and significant vision impairment. Others with more pigment may have red-brown hair, some skin colour, blue or brown eyes and less severe vision impairment.

Children with ocular albinism have vision impairment but the hair and skin are normal or near-normal in colour.

Oculocutaneous Albinism

This type of albinism usually occurs as a result of autosomal recessive inheritance, where both parents carry one gene for albinism. Recessive inheritance is the result of receiving one defective gene from each parent.

All of our genes come in pairs and if one gene is normal and the other is defective, in a recessive disorder there will be no abnormality. In oculocutaneous albinism the parents, or carriers, usually have normal pigmentation and vision, but when a defective gene is inherited from each parent, the child will have a pair of defective genes and will develop the disease.

In recessive inheritance, there is a one-in-four chance with each pregnancy that the child will have albinism. Both boys and girls can be affected.

Ocular Albinism

This type of albinism can also be recessively inherited, with both boys and girls being affected and a one-in-four chance with each pregnancy.

Ocular albinism can also be X-linked, where the gene for albinism is passed on with the X-chromosome. X-linked diseases result from the difference in the chromosomes of men and women.

Men have an X and Y chromosome and women have two X chromosomes. A disease which is caused by a defective gene on the X chromosome is much more likely to affect men as the Y chromosome will not have a matching normal gene.

Women are carriers of X-linked diseases as, almost always, there will be a normal matching gene on the second X-chromosome. In this form of inheritance, there is a one-in-two chance that sons will have albinism.

Following the birth of a child with albinism, genetic counselling can provide parents with information regarding the risk of future children having albinism.

Effects on a Child’s Vision

For both types of albinism, effects on the child's vision include:

• an abnormality in the retina, called macular hypoplasia, resulting in decreased clarity of vision

• a rhythmical involuntary flicker of the eyes, called nystagmus

• an intolerance to bright light due to reduced or absent pigment in the iris, called photophobia

• refractive errors (short or long sight or astigmatism)

• strabismus (‘squint’ or ‘turned eye’) is often present

• visual pathway anomalies may also be present, particularly problems with depth perception

The effects of albinism on the child's skin will depend on the amount of pigment present, but all children with albinism are prone to sunburn and skin problems and will need additional protection.

Children with albinism may need some form of visual aid, depending on the type and extent of the visual condition. Glasses or contact lenses can correct for short or long sightedness or astigmatism; older children may need mini-scopes for distance viewing and some may need large print or closed-circuit television to increase print size. All children with albinism benefit from sunglasses and hats to reduce glare and prevent sunburn.

Children with albinism usually do not need a special education setting but may benefit from specialised support in their local pre-school and school.

Infants with Albinism

In the early months of the baby's life, visual responses are usually quite poor. The infant may respond to bright light by closing the eyes, but fixing on faces or following moving objects may not be observed. The baby may not smile at the expected time and nystagmus will be apparent.

From about four months of age, the infant with albinism will start to use vision. Initially, she will respond to bright colours, movement, highly patterned objects and faces. She will learn to look at moving objects, at first jerkily, but more smoothly and accurately with practice and maturation. At first she will not be able to hold her gaze for any length of time, but will look at objects with a brief glance as she tries to control the nystagmus and to control her head.

Infants with albinism can, however, learn to use their vision effectively. They will grow and learn as all children do, but they have special needs that must be met if they are to grow and learn to the best of their ability. The following ideas can be put into practice at home and can become part of everyday routine.

Excessive Light

Inside

Ensure the infant is not distressed by excessive light. The amount of light must be controlled so that the baby feels comfortable with her eyes open and she can concentrate on looking at objects and faces near to her.

• Close curtains or blinds on brightly lit windows but do not make the room too dark. Side lamps or shaded overhead lights provide a comfortable lighting level.

• Position the baby to face away from bright light sources. When she is in your arms, sit so that the light falls on your face, making your face more visually interesting for the baby.

• When the baby is on the floor or in a bouncinette, place her away from overhead lights and desk lamps.

• Nappy changing time is often a good opportunity for your baby to look at and touch your face. Ensure that lighting levels are muted and bright windows are covered.

Outside

Excessive light outside will also affect your baby's comfort and what she sees.

Prams and Pushers

These should have covers to reduce direct sunlight, preferably with the inner surface of the cover a dark colour to reduce glare.

Sunglasses

Sunglasses are essential for older children with albinism but quite young babies should be encouraged to wear them. Baby-sized sunglasses with wide side arms are now available. Young children with prescription glasses should have the lenses tinted.

Photochromatic lenses that respond to brightness levels are available. Even with photochromatic glasses, children with albinism will take longer to adapt to changes from outside to inside lighting conditions, and time should be allowed for this to occur.

Sunglasses are important not only in summer. In autumn and winter, the sun is lower in the sky, often causing discomfort on otherwise cool and pleasant days.

Hats

Hats should be encouraged from a very early age (see the section on Skin Protection for recommended types).

Reflected Light

Glare is a major factor in producing discomfort and poor visual conditions for children with albinism. Glare is reflected light from surfaces such as water, cloud, shiny floors and tables, unpainted concrete and sand. Cloudy days can be more uncomfortable than clear, sunny ones and babies need protection at these times too.

Car Travel

Car travel can produce excessive light levels for babies and toddlers. Where possible, seat the child in the centre of the back of the car, away from windows. Commercially available window screens and tints are very effective.

Encourage Her to Use Her Vision

Babies are initially attracted to faces, but the infant with albinism may not be aware of your face, even when you are very close. You may find, however, that she ‘stills’ or appears to be listening to you when you talk to her, suggesting that she is interested.

Play, Talk and Touch

Don't be discouraged—give her as many opportunities as possible to see your face. Hold her hands to your face as you talk to her and make your talk animated and fun. Wearing bright lipstick or face paint may increase her awareness. Play ‘blurting’ or kissing games, approaching her from a slightly different angle each time. Let her feel your hair, earrings or beard. Remember to have the light source on your face and not in the baby's eyes.

Colour Contrast

Choose toys, which are brightly coloured or patterned. Bright, clear colours are easier to see than pale pink or blue. Interesting patterns can be made by using black tape on white or plain coloured toys, and on her bottle.

Contrast is just as important as colour. Use a dark, plain rug for the floor to give good contrast to coloured toys (a white or pale rug will produce too much glare and a patterned rug is too visually confusing). Use a dark, non-shiny mat on the high-chair tray and choose bowls and cups in primary colours to contrast with it.

Clothing can be chosen to increase visual awareness. Red booties or socks will contrast against blue pants and allow the infant to be more aware of her feet.

Help Your Baby to Explore

By touching and playing with objects, the child's world becomes more interesting and enjoyable and she will be more and more motivated to use her vision.

Even before she is able to reach out with her hands, place toys near her hands and feet so that when she moves, she will touch them. Place them near her when she is on the floor and use a toy frame to hang toys within touching distance.

Sew a small toy to a ribbon to tie around her wrist or use a toy sewn onto a mitten. This will encourage her to feel the object as she brings her hands together. Choose a brightly coloured toy and mitten, perhaps with a bell or other sound maker to make it more interesting.

When your baby is looking at something, help her to reach out and touch it by gently moving her arm toward it, or touch the object to her fingers and allow her to grasp it. Avoid placing the object in her hand; she must learn to do it herself.

Make her environment interesting to look at but avoid visual ‘clutter’. A variety of interesting objects will encourage your baby to reach out and explore:

• low hanging mobiles above her cot and change table

• toys tied to her cot and across her pram

• wall friezes and pictures on the wall next to her cot

These are most effective when they are seen against a plain background. Avoid having so much to look at that the baby is unable to distinguish the object from the background.

Use varied textures to encourage your baby to feel and be interested in looking. Little fingers can scratch on corrugated cardboard, textured materials (perhaps made into a patchwork rug), ridged plastic boxes, and string bags fitted with crushed cellophane.

Talk to Your Baby

Talking to your baby will help her to feel safe and to understand what is happening to her and around her.

Give her warnings, using both voice and touch. She needs to know that she is going to be picked up, or have a spoon put in her mouth or have her nose wiped. Tell her what you are going to do and perhaps give a touch-clue, such as tapping her hands for ‘up’, or touching the spoon to her hands.

Avoid approaching your baby quietly as she may be startled by your sudden appearance. Talk to her as you approach.

Tell her what is happening to her, e.g. ‘you're having a bath, listen to the splashing’. And tell her what is happening around her, e.g. ‘can you hear me washing the dishes?’

Remember that for young babies who are just learning to use their vision, looking is hard work. While it is important to stimulate your child and to encourage her to use her vision, she also needs quiet times to play alone, to look around and to listen to sounds, and to rest.

Skin Protection

Precautions When Outside

Children with oculocutaneous albinism need constant protection to prevent burning. Although children with ocular albinism are less at risk, they are usually fair-skinned and need the same protection as any young child.

Hats & Sunglasses

Hats and sunglasses should be encouraged from an early age. ‘Legionnaire’ hats are ideal, giving protection to the face and neck, but material hats with a wide brim are adequate and often more cosmetically acceptable. Open-weave straw hats allow too much light through. Choose or modify hats with dark lining on the brim to reduce glare.

Sunscreen

Sunscreens with SP factor of 40+ are now available and should be used whenever the child is outside. It should be applied half an hour before going outside and re-applied at regular intervals.

Waterproof sunscreen is needed if the child is going in the water. Do not forget to apply sunscreen to ears, hands, feet, the neck and back of arms and legs. Children with albinism may suffer allergic reaction, so testing on a small patch of skin is recommended. Sunscreens that are PABA free may be better tolerated.

Protective Clothing

Clothes should be chosen with protection in mind. Clothing can now be purchased with a built-in sun protection factor and there are a variety of wet-suit bathers with arms and leggings that are very appropriate for children with albinism.

However, clothes made of material that has a close weave and fully cover the legs and arms can be quite effective, particularly if used in conjunction with sunscreen. If you can see light through the material when it is held up, it is not effective as a protective covering. There is a list of sun-protective clothing suppliers at the end of this fact sheet.

Minimising Sun Exposure

Some outdoor activities may need to be rearranged to reduce exposure to the sun. Fortunately, people are more informed now about the dangers of excessive sun exposure and the needs of a child with albinism can usually be met with minimum inconvenience.

Avoid bright sunny days on the beach; even when under a beach umbrella, the glare from sand and water can burn the skin. Visits to the beach might be arranged for early evening, when still light.

Shade under trees may be adequate if there are no surfaces nearby that produce glare, but some children find the dappled effect from tree shade distressing as there still may be very bright spots. A covered play area (using shade cloth) adjoining a grassed area provides adequate protection, but glasses, hats and sunscreen should still be used.

Don’t be complacent on cloudy days as UV light can penetrate clouds and burn the skin.

Skin Care

Skin complaints such as eczema, dermatitis and nappy rash are more common in children with albinism. An early visit to a dermatologist is advisable if skin problems occur.

Particular attention should be paid to nappy changing and drying skin creases and folds after the baby's bath. Most commercial soaps and shampoos are harsh on sensitive skin. Pure soaps are available but are fairly expensive.

A Useful Website for Parents

NOAH (National Organisation for Albinism and Hypopigmentation),

Sun-Protective Clothing Suppliers

The following companies sell sun-protective clothing suitable for children with albinism. They stock long sleeve pants and tops, socks, gloves and hats. Goods can be purchased at their retail outlets and/or via the internet.

Ozi Varmints

This Sydney-based company has a retail network in Sydney and an online shopping catalogue.

Toll Free Phone: 1800 999 969

Website: .au

Stingray Sun Protection Products

This is a Sydney-based company that has an online shopping catalogue.

Phone: (02) 9358 3600

Website: .au

Cancer Council

The Cancer Council shops have an excellent range of children’s sunglasses. It’s best to try sunglasses on children to make sure the glasses fit well and cut out sufficient light around the edges.

The Cancer Council also has sun-protective clothing but do not have long legged pants and a limited range of long sleeve shirts for children.

Cancer council shops also sell beach tents.

Online catalogue: .au

Baby Banz Sunglasses and Hats

Baby Banz sell wrap-around infant sunglasses with a neoprene headband. They have a range of sunglasses for children 0-2 years and 2-5 years. They also sell sunhats that coordinate with the sunglasses. Their glasses are sold in pharmacies, optometrists and Cancer Council shops.

Toll Free Phone 1800 112 269

Website

C Wear Australia

This company sells children’s and adult’s sun-protective swimwear.

Phone 1300 734 695

Email for a brochure sales@.au

Website .au

United States Online Shopping Sites

Two online shopping sites with a good range of clothing are:

skin-



Vision Australia

Vision Australia works in positive partnership with Australians who are blind or vision impaired to help achieve the possibilities they choose in life.

Our wide range of services is provided through regional and metropolitan locations in New South Wales, Victoria and the Australian Capital Territory, mostly free-of-charge.

Contact us

Call 1300 VISION (1300 847 466)

Vision Australia was formed through the merger of Royal Blind Society, the Royal Victorian Institute for the Blind, Vision Australia Foundation and the National Information and Library Service.

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