What is Angelman Syndrome?
Angelman Syndrome is a rare genetic disorder that affects the nervous system. It can cause seizures, developmental delays, speech and balance abnormalities and intellectual disabilities. It typically presents in early life.
What causes Angelman Syndrome?
Angelman Syndrome generally occurs due to dysfunction within the UB3A gene found on chromosome 15. This gene provides information for a protein called ubiquitin protein ligase which plays a key role in the development and function of the nervous system. This could be due:
- Deletion (part of the gene being missing)
- Mutations (changes to the gene)
- Paternal uniparental disomy (inheriting both copies of altered UBE3A gene from the mother)
- Genetic imprinting (gene from one parent is silenced but the gene from the other parent is expressed)
- How is Angelman syndrome passed on?
Unlike the other chromosome instability syndromes mentioned earlier, Angelman Syndrome is generally not inherited. It arises due to spontaneous (random) genetic changes. In a minority of individuals, Angelman Syndrome could arise due to a child inheriting 2 copies of the altered UBE3A gene from their father. In some individuals, the cause of Angelman Syndrome may not be known. In these individuals, it may be common to see other genetic defects.
What are the symptoms of Angelman syndrome?
- The symptoms of Angelman Syndrome can include:
- Delayed development such as not crawling or babbling after 12 months
- Little or no speech
- Excessive smiling and laughing
- Difficulty sleeping or getting to sleep
- Balance abnormalities such as walking or moving
- Intellectual disability
How is Angelman syndrome diagnosed?
Diagnosing Angelman Syndrome involves a combination of clinical evaluation and genetic testing, such as PCR or chromosomal microarrays.
How is Angelman syndrome treated?
Unfortunately, there is no cure for Angelman Syndrome at present. Management of Angelman Syndrome uses a multi-disciplinary team approach aimed at alleviating the symptoms of Angelman Syndrome and enhancing the individual’s quality of life. This may involve speech and language therapy, medications to manage seizures and tailored behavioural interventions. This service in Manchester is headed by Prof. Jill Clayton-Smith and her team based at the Manchester Centre for Genomic Medicine.
Sources:
Clinic Team and frequency
Multi-disciplinary team
- Dr Catherine Breen (Clinic Lead and Consultant Geneticist) – Dr Breen has been a Consultant Clinical Geneticist since 2017 – she graduated from the University of Manchester Medical School in 2004 and first trained in paediatrics before completing specialty training in genetics. Her main clinical interests are in genetic neuromuscular conditions and developmental disorders and she runs the specialist Rett Syndrome clinic and Angelman clinic.
- Sydney Francois (Genetic Counsellor)
- Dr Dan Hindley (Consultant Paediatrician) – Dr. Dan Hindley is a Consultant Paediatrician working in secondary care settings in Bury and Bolton Primary Care Trust. Dr. Hindley qualified in London and worked as an acute paediatrician in Bury for ten years before moving to Bolton in 2004. His interests include childhood epilepsy and neurodisability, and developing community paediatric services. He has a special interest in the correct diagnosis and overall management of children with epilepsy and their families. Other interests include paediatric neurodisability and general paediatrics.
- Claire Abbott (Specialist Epilepsy Nurse) – Claire Abbott is a Specialist Epilepsy Nurse in Bolton and has been involved in the Angelman Clinic since 2022.
- Jenny Pemberton (Speech and Language Therapist) – Jenny Pemberton is a speech and language therapist from Yorkshire. She has been a member of the Angelman clinic team since 2016.
- Dr Jane Waite (Clinical Psychologist) – Dr Jane Waite has been a clinical psychologist since 2010, and works with people with rare syndromes, autism and intellectual disability to improve mental health.
- Hannah Jackson (Clinic Coordinator) – Hannah is the administrator and project support for the Manchester Rare Conditions Centre and is the Clinic Coordinator for the Angelman clinic at Manchester NHS Foundation Trust. Hannah supports the clinic by performing administrative duties for the clinic and for the MDT, and acts as the liaison between patients, patient families and health care professionals.
Clinic frequency
Two full day clinics a year (every 6-months). The next clinic is scheduled for Friday 27th September.