Bardet-Biedl syndrome (BBS) is an inherited genetic condition that affects approximately 1 in 100,000 babies born. It is named after the four doctors who described the symptoms of the syndrome. Genes on chromosomes 16, 11, 3, 15, and 20 have been associated with BBS, but what these genes do and their roles in causing BBS is not yet completely known.

Symptoms

The symptoms of Bardet-Biedl syndrome may include:

• Primary symptoms (most common in the syndrome)
• Visual impairment caused by rod-cone dystrophy, often diagnosed as retinitis pigmentosa
• Extra fingers and/or toes (polydactyly)
• Obesity
• Learning disabilities
• Underdeveloped genitals in males (hypogonadism)
• Kidney abnormalities
• Secondary symptoms (may also occur)
• Delayed development
• Speech problems
• Poor coordination, clumsiness
• Type 2 diabetes
• Difficulty controlling muscles (ataxia)

Diagnosis

Diagnosis of Bardet-Biedl syndrome is based on the child's symptoms. These may be present at birth or may become noticeable as the child grows. For diagnosis, four primary symptoms should be present, or three primary plus two secondary symptoms. There is no specific test to detect the presence of BBS.

A successful bid to the National Commissioning Group in 2010 supported the development of designated ‘one stop’ annual clinics for patients with diagnosed or suspected BBS. QEHB is one of four centres involved in the program.

The objectives for the clinic

• Provision of expert attention and management for patients.
• Development of a model of care which embraces and immediately reacts to patient experiences of the service
• Enhanced multidisciplinary working
• Partnership working with charities such as the BBS society.

Monitoring, investigations and interventions offered by this service cover a wide range of areas including ophthalmology, Chronic Kidney Disease (CKD) management, genetic screening, weight management, comprehensive endocrine assessment and holistic support. The team includes of 4 consultants, 3 of which work traditionally within separate directorates within the Trust and 1 that works for a neighbouring Trust. It also includes a dietician, a psychologist and is led and coordinated by the Clinical Nurse Specialist (CNS).

The clinics run all day and patients either attend the morning or the afternoon clinic. Unlike traditional outpatient clinics, patients are allocated to a clinic room where they stay for the entire session (except for the ophthalmology assessment due to the equipment require) and the clinicians rotate round the patients on a 30 minute timetabled schedule.

BBS Society Co-ordinators (who are carers for patients with BBS) take an active role within all clinics, and provide real-time feedback. This patient-centred service is exemplified by the specialists rotating round the patients enabling our patients and families to stay in the same clinic room. This unique approach is managed and coordinated by the CNS who coordinates each session.

How to contact the service

Sarah Borrows – Clinical Nurse Specialist

Email: Sarah.Borrows@uhb.nhs.uk
Tel: 07917 000 260

Julie Griffiths – Outpatient manager

Email: Julie.Griffiths@uhb.nhs.uk
Tel: 0121 371 5632