Which tests and treatments are available?

MSS cannot be cured. Still, there are treatments that diminish the symptoms or even make them go away completely. Health care providers will usually first examine the symptoms before suggesting a treatment.

Below is an overview of possible tests and treatments. It only lists the care that is mostly given to people with MSS. Not every adult or child with MSS will need to undergo all the tests or every treatment. The doctor might suggest different tests and treatments to some people with MSS, depending on the symptoms and age.

This topic deals with the available care. But you can do a lot yourself to improve the health and wellbeing of your child. More about this in What can you look out for as a parent/carer

Breathing difficulties	The opening in the back of the nose is narrow or even blocked(choanal atresia).	The paediatrician look at the airways on the inside using a tube with a camera. This test is performed under anaesthesia.	A temporary tube is inserted through the mouth (Mayo tube). There is also a long-term solution: a tube is inserted between the nose and the oesophagus (nasofayngeale tube) or a plate against the palate (Tubingen palate plate).
	The breathing ways are severely blocked, making the oxygen levels in the blood drop.		There is also respiration through a temporary tube that is inserted through the throat (intubation). The doctor can then apply pressure to the lungs (CPAP). When this doesn't help, the doctor can make a permanent passage to the lungs. Access is in the throat (tracheotomy).

Difficulty swallowing (feeding)

Because parts of the mouth and throat are formed differently, children swallow air with their food.

A paediatrician films how food goed down by colouring the food (contrast fluid). This way the doctor can see where the food is and how quickly it goes down.

When the doctor has determined where the problem exactly is and how serious it is, you will get the appropiate advice. In some cases, the child will receive food through a tube in the nose (PEG-tube) or straight into the stomach (through a so called 'MIC-KEY button on the belly).

Eye problems

The eye condition glaucoma (higher pressure in the eye) occurs often in people with MSS. That is why doctors pay extra attention to this when they know you have MSS.

An ophthalmologist looks at the eyes through a device to determine if the eye condition glaucoma is visible.

The treatment of glaucoma is the same treatment you receive when you do not have MSS. A doctor can inform you of the treatment available.

Problems with the bones	The bones of people with mss mature much faster, causing them to fracture easier.	A paediatrician or orthopaedist checks the density of the bones with a device (dexa scan).	With low bone density (osteopenia) or osteoporosis a doctor can give medication to strengthen the bones.
	People with mss can have a growth disorder in the bones (dysostosis) as well as curving of the spine (scoliosis or kyphosis) and calcification of the vertebrae (stenosis). These symptoms can start in puberty.	A paediatrician or orthopaedist checks if there are growth disorders or other problems with the bones. The doctor can recognize some defect with bare eyes, but for other disorders a device is necessary to make images of the inside of the body.	When the curving of the spine (scoliosis or kyphosis) is serious, an operation is needed. An operation involves risk, which the doctor will discuss with you. You can also discuss which other possible treatments there are for the (other) problems that have been found.

Problems with movement of the hands

The joints in the thumbs are reversed.

A doctor will determine this with the bare eye or an X-ray.

An aid to help the fingers bend correctly (a splint or brace)

Problems with the muscles and nervous system

Children and adults with MSS have reduced muscle strength (hypotonia). Movement and touching things or picking them up (motor skills) are therefore often more difficult.

A paediatrician looks at the level of movement and whether there is enough strengt to do all the daily things the person should be able to do at that age.

With physiotherapy you can work on improving muscle strength. An occupational therapist can advise on on aids to support movement.

Communication and language development

Because of the intellectual disability that comes with MSS, language development doesn't start or is very difficult. That is why learning to communicate is doesn't happen by itself.

A speech therapist can test the level of communication. The therapist will check the use and understanding of language and other means of making contact.

There are many ways in which to teach a child how to communicate. Remedial educationalists can advise on which approach is best suitable. They also give parents and carers tips on how to work on communication at home.

Ears	Ear infections can occur more often in children with MSS. Recurring ear infections increase the possibility of a hearing impairment.	Doctors regularly examine the children's hearing to determine whether or not it is getting worse.	Ear tubes can be placed through the ear drums (t-drains). This relieves the pain of the infection, but it might cause chronic runny ear. A hearing aid is another possibility.
	The shape of the small bones in the ears may cause the passage to be too narrow.	The doctor will determine the width of the auditory passage.	The auditory passage on the outside of the ears can be enlarged slightly (meatoplasty). An operation on the bones in the ear (mastoidectomy) is also a possibility.

Mouth and teeth

The jaw is usually too small for adult teeth. The gums can sometimes be thicker.

The dentist determines if the teeth need to be straightened. It is recommended to visit a dentist who has experience with children with an intellectual disability. Your own healthcare provider can refer you to a centre for specific dental care.

Teeth can be straightened when there are serious problems with closing the jaws and chewing. A dentist can also recommend removing teeth or molars.