Condition AZ: b

Also known as: Behcet’s disease

Background

If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library.

To meet other parents see support groups below or meet other parents online in our private Facebook group.

Please see below for reliable medical information on Behcet’s syndrome produced by alternative providers.

NHS website
www.nhs.uk/conditions

Although alternative links have been selected with great care, Contact cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional.

Is there support?

Behcet’s UK

Tel: 0345 130 7328
Email: info@behcetsuk.org
Website: https://behcetsuk.org/

Behcet’s UK are a Registered Charity in England and Wales no. 326679. They aim to secure the best care for all Behcet’s patients and assist their friends, families and carers. They provide information and advice including information about supporting children with Behcet’s sydrome. They also promote research into the cause, effects, treatments and management of the condition.

Group details updated August 2021.

Background

Bronchopulmonary dysplasia (BPD) is a condition which now principally occurs in babies born before 30 weeks’ gestation (time in the womb), being more commonly observed in the most immature of these babies.

Credits

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St George’s Hospital Medical School, London, UK and Dr J E Wraith. Consultant Paediatrician, Royal Manchester Children’s Hospital, Manchester, UK. Last updated October 2010 by Dr R Rivers, Consultant Neonatologist (Emeritus), Imperial College Healthcare Trust, St Mary’s Hospital, London.

What are the causes?

BPD is thought to reflect an imbalance between factors promoting inflammation in the very immature lungs and the factors that are designed to inhibit excessive inflammation. The healing and repair that follows the inflammation is also poorly organised so that the lungs do not always grow normally afterwards. Factors which predispose these babies to develop BPD include exposure to infections in the womb before birth, the need for breathing support from a ventilator and for oxygen supplementation in the air they are being given after birth.

How is it treated?

There may be a continuing need for the baby to have some form of breathing support. The amount of added oxygen they are receiving at the age of 28 days and, if still needed, when they reach the equivalent of 36 weeks’ gestation, are used to define the severity of the BPD. The need for additional oxygen may persist for some weeks or even months, with a few babies actually going home on oxygen therapy.

Babies who have been affected by the more severe forms of BPD are more prone to wheezing episodes requiring medication and some may require later re-hospitalisation for breathing difficulties. Viral infections during the first years of life are often triggers for wheezing episodes and those babies who are receiving additional oxygen at home may be offered a series of injections of specific antibody to give them some protection against one of these viruses, the human respiratory syncytial virus, during their first winter at home.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Any genetic predisposition to BPD development is likely to involve several gene interactions in the pro-inflammatory, inhibitory and repair pathways in the lung along with genes affecting the types of chemicals produced to stabilise lung aeration and help in the fight against infections. These components of inheritance interact with the complex environmental factors mentioned above and, as yet, no distinct inherited gene patterns predisposing to BPD in the human baby have been identified.

Prenatal diagnosis
Not applicable for this condition.

Is there support?

Information and support in the UK for bronchopulmonary dysplasia is available from BLISS – the premature baby society (see entry Prematurity and Sick Newborn).

Also known as: Osteogenesis Imperfecta

Background

Brittle bone disease or osteogenesis imperfecta (OI) is a genetic condition that causes abnormality in collagen protein that the body needs for bones as well as other structures such as skin, ligaments and teeth. Seven forms of OI have been described. They include mild, moderate and severe forms.

Credits

Medical text written November 2002 by Professor SF Ahmed. Last updated December 2012 by Professor SF Ahmed, Consultant in Paediatric Endocrinology and Bone Metabolism, Royal Hospital For Sick Children, Yorkhill, Glasgow, UK.

What are the symptoms?

All people with OI have weak bones, which makes them susceptible to fractures. People with OI are usually below average height (short stature). However, the severity of the disease varies greatly.

The classic symptoms include:

  • blue tint to the whites of the eyes (blue sclera)
  • multiple bone fractures – the frequency of fractures may increase in adolescence
  • early hearing loss (deafness).

Because collagen is also found in ligaments, people with OI often have loose joints (hypermobility) and flat feet. Some types of OI also lead to the development of poor teeth.

Symptoms of more severe forms of OI may include:

  • bowed legs and arms
  • kyphosis (over-curvature of the upper back)
  • scoliosis.

What are the causes?

OI is a genetic disorder. Most cases (90 percent) involve a change (mutation) in type 1 collagen – the protein ‘scaffolding’ of bone and other connective tissues. Other cases of OI are caused by changes in other genes in bone development.

How is it diagnosed?

OI is usually suspected in children whose bones break with very little force. A physical examination may show that the whites of their eyes have a blue tint.

A definitive diagnosis may be made on the basis of examination of the person, examining the skeleton by X-rays, excluding other causes of bone fragility and sometimes by genetic tests.

How is it treated?

Fractures need to be treated, but the immobilisation period should be kept to a minimum as activity allows muscles and bones to stay as strong as possible. It is important for someone with OI to have a well-balanced diet with adequate calcium.

There is no specific drug therapy for OI, but it has been shown that a group of drugs called bisphosphonates can reduce bone loss, the number of fractures and the chronic pain experienced by these children. Most children obtain maximum benefit from this drug over the first two years of treatment.

Some children may benefit from insertion of rods to support the bones. Regular monitoring of other functions such as hearing is required.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Type I and IV are usually inherited in an autosomal dominant manner but new mutations in a family (sporadic) often occur. Affected families should be referred to a genetics centre for information and support.

Prenatal diagnosis
Severe cases may be detected by ultrasound scanning. A DNA test may be available at eight weeks for some affected families where the genetic mutation is already known.

Is there support?

Brittle Bone Society

Tel: 01382 204 446
Email: admin@brittlebone.org
Website: brittlebone.org

The Society is a Registered Charity in England and Wales No. 272100 and Scotland No. SC010951. It provides information and support to people affected by the bone condition Osteogenesis Imperfecta in the UK and Republic of Ireland.

Group details last updated December 2020.

If your child is affected by a disability or medical condition we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library.

To meet other parents see support groups below or meet other parents online in our closed Facebook group.

Please see below for reliable medical information on Brain Tumours produced by alternative providers.

NHS website
www.nhs.uk/conditions

Although alternative links have been selected with great care, Contact cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional.

Is there support?

Brain Tumour Action

Helpline: 0131 466 3116
Web: braintumouraction.org.uk

The Organisation is a Registered Charity in Scotland No. SCO21490. It provides information, support and counselling to brain tumour patients and their relatives and friends. The Organisation runs its own support groups and publicises support groups run by other organisations. 

Group details last updated March 2022.

The Brain Tumour Charity

Tel: 0808 800 0004
Email: support@thebraintumourcharity.org
Website: thebraintumourcharity.org

The Organisation is a Registered Charity in England and Wales No. 1150054 and in Scotland No. SC042096. It provides information and support to anyone affected by brain tumour, and funds scientific and clinical research. 

Group details last reviewed March 2022.