About Smith-Magenis syndrome
Smith-Magenis syndrome is a genetic disorder that affects many parts of the body and many areas of children’s development.
It's caused by missing genes on chromosome 17, or by changes in the RAI1 gene on chromosome 17. This genetic change happens around the time of conception. Smith-Magenis syndrome isn’t usually inherited.
Smith-Magenis syndrome is a rare condition. It occurs in 1 in 15 000-25 000 people.
Children with Smith-Magenis syndrome are often also diagnosed with autism, attention deficit hyperactivity disorder, obsessive compulsive disorder and mood disorders.
Signs and symptoms of Smith-Magenis syndrome
Physical characteristics
Children with Smith-Magenis syndrome might have:
- facial features that include a broad, square face with deep-set eyes, full cheeks, a prominent lower jaw, a flattened bridge of the nose, a downturned mouth and a squint
- low muscle tone
- short stature
- scoliosis
- a hoarse, low-pitched voice
- vision problems like myopia
- flat or highly arched feet and an unusual way of walking.
Cognitive signs
Children with Smith-Magenis syndrome might have:
- developmental delay
- mild to moderate intellectual disability
- delayed speech and communication
- delayed gross motor skills and fine motor skills.
Behaviour signs
Children with Smith-Magenis syndrome often have:
- chronic sleep problems – for example, they might be very sleepy during the day and awake at night
- temper tantrums, sudden mood changes, aggressive behaviour and difficulty with impulse control
- anxiety
- attention difficulties
- a tendency to injure themselves deliberately – for example, head-banging and hand-biting
- repetitive behaviour – for example, hugging themselves repeatedly
- reduced sensitivity to pain and temperature
- eating difficulties, with a preference for soft foods.
Medical concerns linked to Smith-Magenis syndrome
Children with Smith-Magenis syndrome might have medical concerns like:
- ear problems – for example, chronic ear infections or hearing loss
- dental problems
- seizures
- heart and kidney defects
- retinal detachment
- chronic constipation.
Most children with Smith-Magenis syndrome have excellent long-term memory, happy and endearing personalities, and a good sense of humour.
Diagnosis and testing for Smith-Magenis syndrome
Health professionals diagnose Smith-Magenis syndrome by looking at the physical and other signs and symptoms listed above. They usually confirm the diagnosis with genetic testing.
Early intervention services for children with Smith-Magenis syndrome
Early intervention is the best way to support your child’s development. Early intervention includes therapies, education and other supports that will help your child reach their full potential.
Early intervention should also include helping you learn how to spend time with your child in ways that support their development. Children learn the most from the people who care for them and with whom they spend most of their time, so everyday play and communication with you can help your child a lot.
You and your child will probably work with many health and other professionals as part of your child’s early intervention. These professionals might include paediatricians, psychologists, speech pathologists, behavioural therapists, physiotherapists, occupational therapists and special education teachers.
It’s good to see yourself as working in partnership with your child’s professionals. When you combine your deep knowledge of your child with the professionals’ expertise, you’re more likely to get the best outcomes for your child.
Financial support for children with Smith-Magenis syndrome
If your child has a confirmed diagnosis of Smith-Magenis syndrome, your child can get support under the National Disability Insurance Scheme (NDIS). The NDIS helps you get services and support in your community. It also gives you funding for things like early intervention therapies or one-off items like wheelchairs.
Looking after yourself and your family
Although it’s easy to get caught up in looking after your child with Smith-Magenis syndrome, it’s important to look after your own wellbeing too. If you take care of yourself, you’ll be better able to care for your child.
If you need support, you could start by talking with your GP or a genetic counsellor. You can also get support from organisations like Smith-Magenis Syndrome Australia, Genetic Alliance Australia and Genetic Support Network of Victoria.
Talking to other parents can be a great way to get support too. You can connect with other parents in similar situations by joining a face-to-face or an online support group.
If you have other children, they might have a range of feelings about having a sibling with disability. They need to feel that they’re just as important to you as your child with disability – that you care about them and what they’re going through. It’s important to talk with your other children, spend time with them, and find the right sibling support for them.