Genetic conditions

Down's syndrome is a genetic condition that results in some level of learning disability and a particular range of physical characteristics. The condition is caused by the presence of an extra copy of chromosome 21. 

Children with down's syndrome are all individuals. The effect that this extra genetic material has on each child's health and development widely varies. 

Children with down's syndrome are known to be at a higher risk of developing some health conditions and sensory difficulties than other children. Possible health conditions can include heart, bowel, hearing, vision and thyroid gland difficulties. Although some of these can be serious, many are not if they are recognised and well supported.

How we can help

Babies who have been diagnosed with down's syndrome will be referred to a paediatrician for a medical appointment in a paediatric clinic. Some babies have more complex medical problems and will also need to be seen by other specialists such as a heart specialist or feeding specialist.

These clinics will arrange the long term review of babies and children and ensure that their medical needs are being met.

Tuberous sclerosis is a rare genetic condition. People within the same family can be affected very differently with different levels of severity. It may also occur as a new mutation, meaning that no one else in the family is affected.

It can cause benign tumours (growths that are not cancerous tumours) to grow in different parts of the body. They often grow on the skin, eyes and on internal organs such as the brain, kidneys, heart and lungs. Children with tuberous sclerosis, can have a variety of medical conditions, such as epilepsy, breathing problems, skin changes, kidney problems and fluid on the brain. It can also be associated with learning difficulties, Autism Spectrum Disorder and hyperactivity.

What you can do to help

Speak to your GP if you think your child may have tuberous sclerosis. You can also contact us for advice by calling 0300 029 50 50. 

How we can help

There is no cure for tuberous sclerosis, but help can be given to support your child.

They may be seen by a variety of professionals, including community paediatricians, acute paediatricians and geneticists. Community paediatricians may support your child if needed with assessments for neurodevelopment conditions such as Autism Spectrum Disorder, or to provide medical advice for support for an Education Health Care Plan if extra support is requested at school. Your health visitor or school nurse can also give advice.

Neurofibromatosis is where growths occur along nerves affecting how the nerves work. There are two distinct types of neurofibromatosis known as type 1 and type 2. The most common is neurofibromatosis type 1 which is also associated with swellings or lumps under the skin, coffee coloured patches of skin, clusters of freckles in unusual places (such as under the armpit) and bone or visual problems. It can also be associated with learning difficulties. Neurofibromatosis 2 tends to affect children in their teens or early adulthood and often affects the hearing nerve.

What you can do to help

Record any symptoms or signs your child has and discuss them with your GP.

How we can help

Your GP may refer you to a doctor such as a paediatrician, neurologist or a geneticist to make a diagnosis.

If your child has already been diagnosed with neurofibromatosis your GP may want you to access community services such as the physiotherapy service or occupational therapy service.