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Newly Diagnosed

Thank you for visiting us after your child’s recent diagnosis. A rare genetic diagnosis can feel frightening and overwhelming, and everyone processes it differently. Remember, you are not alone in this journey…

You may feel a sense of loss for your child’s future, anxiety about the challenges ahead, or even anger at the randomness of it all. You might also feel relief if you’ve been seeking answers for some time.

We are here to help you answer those questions. We have parents of Angelman children who can provide support, they may be just ahead of you in this journey and they ‘get it’.

Angelman syndrome presents unique challenges, but it also reveals the incredible strength and resilience of your child. Early intervention, therapies, and support can help your child thrive in their own way. Every small step, every achievement, matters.

Register Here

It’s okay to take things one day at a time, and remember to lean on support systems, whether it’s family, friends, or organisations like ASI. Take care of yourselves too, because your well-being is crucial as you support your child’s development. If you need more information or resources, don’t hesitate to ask—there’s a wealth of support available to families navigating this.

Here we start with some areas of focus to guide you, but remember every journey is different –

1. CDNT Referral

The Early Intervention team / Children’s disability network team should be an immediate referral for an AS diagnosis. Referrals should be marked as Urgent for SLT Feeding assessments – due to the risk of aspiration in AS.

2. Medical Referrals

Our Support & Resources page details medical referrals that your consultant should consider. It is always best to be proactive in this regard as there are known health complications related to AS – and this is where the HSE Care pathway can really help.

3. Download & Print Important Resources

Angelman Syndrome is a rare condition, affecting approximately 1 in 15,000 individuals. In Ireland, this translates to around 3-5 new babies being born with AS each year. Given its rarity, it’s not surprising that many medical professionals may not be familiar with the condition. For parents, this lack of awareness can be both frustrating and disheartening. However, it often drives parents to take a proactive approach, becoming resourceful and motivated to educate others about their child’s condition.

You will become your child’s greatest advocate 

Download PDF → Standards of care in the management of AS

Download PDF → Clinician guidance for treatment of seizures in Angelman syndrome 

4. Familiarise Yourself With Entitlements

Once genetic diagnosis is received the application for Domiciliary Care Allowance should be straight forward. This will also entitle the child to a medical card and other financial supports – see section on Support & Resources for full list.

5. Learn About AS

Take your time… there is plenty to learn but also in good time & when you feel ready.
You can read our section on Understanding the Genetics and also gain an insight in to advancing treatments and clinical trials over at FAST (Foundation for Angelman Syndrome Therapeutics) Newly Diagnosed.

6. Make Connections

Irish parents have a WhatsApp group for newer diagnoses and a private Facebook support group which is full of knowledgeable parents who have seen it all! Email crystal@angelman.ie to be added. 

Join Our Mailing List to keep up to date with local events (link below)

Apply for Jack & Jill – Jack & Jill foundation is a life line for so many families providing nurse care to children with Angelman syndrome and other neurological illnesses. Link to online Self Referral Form

Make Even More Connections – International Community

In RARE communities we are stronger with our global friends! Check out the many social media groups in our International community in our support section.

Angelman 101 Sign Up for ASF’s (Angelman syndrome Foundation) next monthly webinar for newly diagnosed.

7. Enroll in GASR

GASR is a database that gathers information about individuals with Angelman syndrome to be accessed by researchers and doctors.

By enrolling in GASR you help to advance research and clinical trials.

You as a caregiver know your loved one with Angelman syndrome better than anyone else. The data you can provider is instrumental in understanding Angelman syndrome and its day to day impact on your loved one.

See here: → https://trrf.angelmanregistry.info/ang/register/

Testing

A suspected diagnosis of AS can usually be confirmed with a blood test. These tests look for:

  • Parental DNA pattern. This test, known as a DNA methylation test, screens for some of the known genetic abnormalities that cause AS. In Ireland this can take 4+ weeks
  • Missing chromosomes. A chromosomal microarray (CMA) can show if portions of chromosomes are missing. In Ireland this can take 4+ weeks
  • Gene mutation. If the results from a DNA methylation test are normal, a UBE3A gene sequencing test may be required to look for a maternal mutation. These tests are sent out of the country and can take months to return.

See our detailed section on Genetic Testing

Angelman syndrome can overlap with many different conditions – see Differential Diagnosis

Early Signs

The following details early characteristics of AS and may lead your doctor to carry out blood tests on your child –

Pregnancy

In most cases, there are no unusual signs or complications during pregnancy that specifically suggest Angelman syndrome.

Newborn

Angelman syndrome typically isn’t diagnosed in newborns because the signs usually become more noticeable as a child grows, often around 6 to 12 months. However, some early signs can be present in infants, although they are generally subtle and may not be immediately recognized as signs of a genetic condition.

  • Feeding problems: Some babies may experience difficulties with feeding, including sucking, swallowing, or poor weight gain. Parents reported symptoms like reflux, “colic like symptoms”, an inability to breastfeed and constipation.
  • Hypotonia (low muscle tone): This is a common early sign, where the baby may seem floppy or have reduced muscle strength. Hypotonia can impact their ability to control movement and support their head.
  • Microcephaly is a head circumference that is significantly smaller than the average for babies of the same age and sex. Commonly used birth head circumference reference charts are based on measurements taken before 24 hours of age.
  • A small number of parents reported Laryngomalacia ‘strider’ possibly due to the low muscle tone mentioned above.
  • Sleep disturbances: Babies with Angelman syndrome can have irregular sleep patterns, including difficulty sleeping through the night or a tendency to sleep very little.
  • Tremors or jerky movements: Some newborns may show unusual movements like tremors or jerky motions, which might indicate motor difficulties that will become more pronounced as they grow.

6-12 months

  • No early babbling or speech development: Babies with Angelman syndrome often show very little to no babbling in the early months, which will later evolve into more noticeable speech delays or lack of speech development.
  • Delayed or absent early developmental milestones: Infants with Angelman syndrome may have delayed or absent milestones such as holding their head up, rolling over, or sitting up. They might also show difficulty with coordination and movement (motor skills).
  • Frequent laughter and smiling, often with little stimulus