MEDICAL

Clinical Support

Aotearoa NZ is a small country with a population of approx 5.223 million (2023) spread out across two separate, elongated islands. If Angelman syndrome occurs in approx 1: 15000 live births, we should expect to see approx. 350 people in NZ, living with Angelman Syndrome. However, due to privacy issues, a lack of engagement, many misdiagosed/undiagnosed cases, we are aware of approx. 80. This low figure has made it difficult to pursue the establishment of clinics specifically for AS patients in the NZ Health system.

Because there is no formal registry for Angelman syndrome in Aotearoa NZ, we encourage all families impacted by AS to register on the Global Angelman syndrome Registry. This registry is a community collaboration that is being used to improve the lives of all who have been diagnosed or are yet to be diagnosed with Angelman syndrome.

There is a pressing need to implement the Rare Disorders Strategy in the new NZ health system - to assist with collating a national Standards of Care document and a national Centre of Expertise for NZ physicians.

Clinical Support Services

Clincial Support services for patients with Angelman syndrome in Aotearoa NZ, are provided through the general health system, Health New Zealand -Te Whatu Ora. This is currently undergoing many big changes as part of a nation-wide review process. We will update our website, when any new information is shared.

Pre-school Learning & Development Support

Most pre-schoolers with AS will need extra support for learning and development. Early intervention supports are available that help tamariki (children) at home, and in their early learning centres. These therapy sessions are fully funded, from birth through to starting school. Once the child enters the education system, a new set of therapists will be assigned through the school system.

Standards of Care - Treatments & Therapies

For Angelman Syndrome, treatment focuses on managing symptoms and developmental delays, involving a team of healthcare professionals and therapists. The main treatments are anti-seizure medications, physical and occupational therapy, speech and communication therapies. Although every individual living with Angelman syndrome has their own unique set of health issues, strengths and weaknesses, this recent study demonstrates the notable differences between the various AS genotypes/molecular subtype:

Developmental milestones and daily living skills in individuals with Angelman syndrome (2024)

Breakdown of Treatments & Therapies for Angelman Syndrome:

1. Medical Management:

Anti-seizure medications: Seizures are a common symptom, and anti-seizure medications (anticonvulsants) are often used to control them.
Dietary therapies: Dietary interventions, such as ketogenic or low-glycemic-index diets, may be explored to manage seizures and other symptoms.
Medication for sleep issues: Sleep disturbances are also common, and medications and sleep training techniques may be used to address them.
Medication for gastrointestinal issues: Feeding troubles and constipation can be managed with diet changes and medications.

2. Therapies for Developmental Delays: See THERAPIES

Physical Therapy: Physical therapy helps with motor skill development, posture, balance, and walking issues, and can prevent joint stiffness.
Occupational Therapy: Occupational therapists help individuals participate in everyday activities and tasks, addressing fine motor skills and other areas of development.
Speech and Language Therapy: Speech and language therapy addresses communication difficulties, which may include sign language, picture communication, and the use of communication devices.
Behavioral Therapy: Behavioral therapy helps address hyperactivity, short attention spans, and other behavioral challenges.

3. Alternative Therapies: See THERAPIES

Hippotherapy: Therapeutic horseback riding.
Hydro/aquatic therapy: Therapy in water.
Music therapy: Using music to address various needs.
Art therapy: Using art to facilitate expression and development.
Pet therapy: Using animals to provide emotional support and interaction.
Sensory processing: Addressing sensory sensitivities through various activities and techniques.

4. Emerging Therapies/Treatments:

Gene therapy: Gene therapy aims to deliver a functional copy of the missing or nonfunctional UBE3A gene, or to reactivate the paternal copy of the gene.
Antisense oligonucleotide therapies (ASOs): ASOs are being explored to target the antisense silencing the maternal copy of the UBE3A gene, which could reactivate the paternal allele.
Gene editing tools like CRISPR-Cas9: Research is also exploring the use of gene-editing tools to directly address the genetic mutations that cause Angelman syndrome.
Small molecule drugs: Researchers are investigating small molecule drugs that could potentially "turn on" the dormant paternal copy of the UBE3A gene.
Other therapies: Other potential therapies include cannabidiol (CBD) for reducing seizure duration and severity, and topotecan for reactivating the paternal allele of UBE3A.

5. Important Considerations:

There is currently no cure for Angelman syndrome, and treatment focuses on managing symptoms and developmental delays.
Early intervention and ongoing therapies are crucial for maximizing development and quality of life.
A team of healthcare professionals, including doctors, therapists, and other specialists, is essential for providing comprehensive care.
Research is ongoing to develop new and more effective therapies for Angelman syndrome.
Participating in clinical trials can help advance research and potentially lead to new treatment options.

Standards of Care

In Aotearoa NZ, we do not yet have our own national Standards of Care document. Examples from other similar countries are listed below.

Angelman Syndrome: Pediatric Primary Care Guide: 2024, Kirti Sivakoti, MD
Management of Angelman Syndrome A Clinical Guideline: 2011, from Dyscerne, UK
Angelman Syndrome Paediatric Care Pathway - National Rare Diseases Office, Ireland

Standards of Care for Angelman Syndrome - paper published in 2022, is a framework for healthcare providers. It covers both paediatric and adult patients. (Note the authors have based it on the American healthcare system so some references may not be relevant/available in Aoteraoa NZ). Full PDF

Clinician guidance for treatment of seizures in Angelman syndrome, November 2024: This paper provides general guidance to support clinician decision-making, not to replace professional judgement or evaluation of the patient.

Mortalities in Angelman Syndrome

2025: Community-Sourced Reporting of Mortalities in Angelman Syndrome (1972-2022). For the Family-friendly report, read here: Research Summary

Anaesthetics

Research Article Anesthetic Considerations for Angelman Syndrome: Case Series and Review of the Literature, July 2017

Note that children with AS can be more sensitive to anaesthetics and can take longer than usual to come around after a surgical procedure.

Scoliosis

Angelman and Prader-Willi Syndromes: Sister Imprinting Disorders With High Complication Rates Following Spinal Deformity Surgery, February 2023

The incidence of scoliosis in AS has been reported to be as high as 71%.

Pain & Discomfort

Angelman Syndrome - Self-injurious behaviour related to pain and discomfort - Cerebra Centre for Neurodevelopmental Disorders.

Genetic Testing

Genetic Health Service NZ:
A national service, with Hubs covering three regions; Northern, Central, South Island.

Clinical Geneticists are medical doctors with specialist training in medical genetics. Patients are likely to see them before a diagnosis has been made.
Genetic Counsellors (also known as Genetic Associates) are healthcare professionals with training in human genetics and counselling. Genetic Counsellors are certified through the Human Genetics Society of Australasia. Patients are likely to see them about a known condition.

Neurological Rehabilitation/Intensive Programs

New Zealand Foundation for Conductive Education | Matauranga Whanonga i Aotearoa: Early Intervention and Rehabilitation programmes for Children and Adults across the motu. See their website to find your local centre.

Adult Conductive Education Trust: The Adult Conductive Education Trust runs a re/habilitation programme based in Christchurch, New Zealand. The purpose is to help those with motor delays and neurological disorders to develop key motor skills, cognitive skills and social, emotional, communication skills, all of which are essential for quality of life.

Centre of Movement: Paediatric Neurological Rehabilitation Clinic based in Burleigh Heads, Gold Coast, Australia. Recently, the Intensive Therapy Sessions have become available in pop-up venues, in Christchurch and Rotorua, NZ. Sign up for their newsletters. See their website for more information and details.

Wilson Centre for Children: A children's health facility in Takapuna, Auckland, catering to inpatients, day patients and outpatients. It provides comprehensive, family-centred rehabilitation services to children from 0 -16 years, or while still at school. It has a purpose-built playground, hydrotherapy pool and gardens.

Planning for AS Clinics in the Future

The Angelman Network is a member of the Rare Disorder NZ collective.

Rare Disorders Strategy

On 25 July 2024 Aotearoa New Zealand’s first Rare Disorders Strategy was released. Developed by Manatū Hauora | Ministry of Health, the Rare Disorders Strategy is the first high level, documented intention to improve the health and wellbeing of people living with a rare disorder and their whānau. However, there has been no action since, to begin implementing the intentions in the Strategy.

Rare Disorder Definition

Health Care and Rare Disorders: Evidence brief. Published December 2024 - Wellington: Ministry of Health. "In New Zealand, Pharmac, the national medicines funding agency, currently uses a threshold of <1 per 50,000 people to define a rare disorder for the purposes of funding decisions (Pharmac 2023). This is considerably lower than both the EU and US rates and equates to approximately 100 people in New Zealand per disorder."

Rare Disorders NZ has launched a PETITION calling for Te Whatu Ora - Health NZ to urgently begin planning the implementation of the Rare Disorders Strategy. Please read and sign the petition here.

Rare Support Centre Aotearoa

Rare Disorders NZ has developed a proposal for a Rare and Undiagnosed Disorders Centre of Expertise in the health system, which we believe will make a significant difference to the health and wellbeing of the 300 000 New Zealanders living with a rare disorder. The Centre will identify gaps in the delivery of service and support in New Zealand’s health and other systems for people living with rare disorders, similar to other initiatives globally.

Read more about the proposed Rare Support Centre Aotearoa.

Autism Research Clinic

On 27 November 2024, the Autism Research Clinic was officially launched by the University of Auckland Centre for Brain Research director, Distinguished Professor Sir Richard Faull.