General Health

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The diagnosis of Angelman Syndrome can be difficult in infancy because the typical characteristics aren't usually apparent at birth and symptoms may appear gradually. Even though sucking and breast feeding may be problematic, the infant can appear to be happy and healthy until they fail to reach certain milestones, such as sitting on their own.

Where there is an agreed concern with you and your GP that your baby may be “failing to thrive” or if there are other indicators that something is not as it should be, you should be referred to a specialist Paediatrician at your public hospital. The Paediatrician will do a detailed assessment and will have access to a variety of tests and other specialists in areas like gastroenterology, orthopaedics, neurology, etc.

In their role as care co-ordinator the Paediatrician can also involve other services such as Genetics Service - for specialist diagnostic tests for diagnosis of genetic conditions, explanation of the diagnosis, discussion of prenatal or pre-symptomatic tests for genetic conditions, and to discuss implications of a family history of genetic conditions. These services are based in Wellington and Auckland, but they have outreach clinics in other areas. Samples of blood will be sent to laboratories here in New Zealand, or overseas for further testing. 

Post Diagnoses

Once a diagnosis for Angelman syndrome is established (see Newly Diagnosed), clear information should be provided about the professionals who will provide ongoing treatment and care. One of them should take on the role of key worker to co-ordinate the health and disability needs of your child. 

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Financial Support: If you qualify, you can then approach WINZ to apply for the Child Disability Allowance. Child Disability Allowance is a fortnightly payment made to the main carer of a child or young person with a serious disability. It is paid in recognition of the extra care and attention needed for that child.

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Initially, the toughest aspects of Angelman syndrome for parents to manage, are sleep and feeding issues, and the possible onset of epilepsy. 

Sleep

Children with AS appear to need less sleep than others and this can become extremely stressful because parents are faced with the urgent need to help their child sleep, as well as the need for the family/parents to sleep. Chronic sleep deprivation for parents can become a serious health hazard and negatively affect relationships, work performance, and personal safety. A lack of sleep for the child can also trigger seizures.

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• If you have the assistance of extended whanau or close friends, try to arrange overnight help to ensure both parents can get at least some regular sleep.

• Using an enclosed bed such as a portable safety-sleeper with weighted blankets can create a ‘calm-zone’ for the child, which can help them sleep better.

• Some families find their child sleeps better in a darkened room and total silence; others have found some soft light and ‘white noise’, works better.

• Behavioral approaches under supervision of a specialist, can also be taken to train the child to sleep better. 

• Medication is a last resort. Always consult your GP before proceeding with any sleep medications for your child.

Feeding

Feeding complications are seen in the majority of infants with AS. Sucking can be ineffective and breast feeding may be problematic. Weight gain needs to be carefully monitored. Gastro-oesophageal reflux (GERD) is also common and can cause further problems. Infants with Angelman syndrome who have feeding difficulties may require special nipples,  medication to treat reflux, and/or tube feeding. In some cases, children are referred to Paediatric Gastroenterology – to evaluate and offer suggestions for treatment for problems with slow bowel motility, constipation, or gastroesophageal reflux.

• It is not uncommon for children with Angelman syndrome to be tube fed. Most parents who have struggled with their child's lack of weight gain have gone this route and have very positive things to say about tube feeding. 

• This case report describes the breastfeeding and bottle feeding challenges faced in the first 6 months of life by baby Leo, who was subsequently diagnosed at 12 months with Angelman Syndrome (AS): Case Study

• When reflux needs to be corrected by surgery - Nissen Fundoplication

Seizures

There is a very high chance of the onset of epilepsy so it is important to know what different seizure-types might look like. Record any subtle seizure activity you notice, either in a notebook (description and timing) or take a video clip and get to your GP as soon as possible. ​It is important to have an emergency plan from your paediatrician/neurologist before your child is 20 months old.  

Having an Emergency Plan in place can avoid unnecessary panic. It may include:

• advice on what to look out for

• how to place a child in the recovery position

• how to time the seizure and how long to wait until you proceed to next step

• access to emergency rescue meds you can administer yourself

• an after-hours phone number

• St John’s Ambulance Service phone number - 111 ​

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Specialist Health Services

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Access to specialist health services in the New Zealand public health system is controlled by a process of referral by health practitioners authorised to do so. Usually that is your General Practitioner. The only other source of specialist advice is to pay for private consultations from specialists in private practice. The public health system referral process should get you the consultations you need to diagnose and treat your child’s condition, whatever specialist you need to see. The referral will be to the specialist clinic at a public hospital and the consultation, and any subsequent laboratory tests, X-rays or scans ordered by the specialist will be free of charge.

Early Intervention Teams

These are set up in most centres, and may cover areas such as Paediatric development, Occupational therapy (OT), Physiotherapy (PT), Speech Language therapy (SLT). Families can access therapy services for their child from birth, through their local district health board. A referral can be made through your NASC (Needs Assessment and Service Co-ordination) service, paediatrician, GP (general practitioner) or health professional. You can also make the referral for your child yourself. Child development teams will refer on to, and work with, other service providers; for example, preschool educational services.

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• Ministry of Health NZ – Early Intervention Services

• Kids Health Org. – Early Intervention info

• Wellington - Wellington Early Intervention Trust