Diagnosis

Watch the video from the Campaign for Early Diagnosis:

Video Transcript:

Attention! If your child is very smiley but does not speak, if he or she has developmental delays, balance and movement difficulties, trouble falling asleep or wakes up multiple times during the night, if he or she has intestinal constipation, stomach reflux, strabismus, and seizures: reach out for your family doctor/pediatritian, and ask about Angelman syndrome.

Your doctor may order tests and refer you to other specialists, as well as provide guidance on appropriate stimulation, which should be started as early as possible!

Providing early stimulation for your child is very important!

Seek medical advice!

Are you in the process of seeking a diagnosis for your child and still don't know what´s the matter?

Click here.

Has your child recently been diagnosed with Angelman syndrome by a geneticist or neuropediatrician?

Clich here.

Campaign for Early Diagnosis

Launched on International Angelman Syndrome Day, February 15, 2024, the "Campaign for Early Diagnosis" - a GAMAS Initiative - quickly went viral on Instagram on our profile @gabi.gamas.

Days after its launch, the video had already been organically reproduced over 40,000 times on the 12 partner profiles of the GAMAS Initiative where it was published, including Angelman families, clinics, pediatricians, and therapists. Additionally, the video was widely circulated on WhatsApp and was heavily reposted in Stories by followers of the GAMAS Initiative and its partners. This outstanding reach was entirely organic, with no paid advertising strategies adopted on Instagram.

The goal of the Campaign is to alert about the symptoms of the syndrome and encourage parents to seek medical advice as quickly as possible.

Help us spread the campaign even further!

SHARE THE LINK BELOW:

https://www.gamasangelman.org/home-in-english/diagnosis

3 reasons for early diagnosis:

Contraindicated medications

Early intervention

Genetic Counseling

1. Avoiding the use of contraindicated medications

Epilepsy is present in 80% of individuals affected by Angelman syndrome, making it crucial to properly manage epileptic seizures. Some medications traditionally used to treat epilepsy are contraindicated for patients with Angelman syndrome, such as:

Carbamazepine,
Vigabatrin,
Phenobarbital.

These medications can exacerbate epilepsy in people with Angelman syndrome.

Medications like primidone and phenytoin, less prescribed nowadays, are also contraindicated for patients with Angelman syndrome.

Moreover, medications based on valproic acid (such as Depakene, Depakote, and Valpakine), although effective in controlling epilepsy cases, have been associated with significant motor side effects that are particularly concerning in patients with Angelman Syndrome, where motor difficulties are naturally present.

Early diagnosis is a way to minimize patient exposure to the risk of antiepileptic drugs contraindicated for Angelman syndrome.

O artigo "Abordagem Multidisciplinar e Consenso para Estabelecer os Padrões de Tratamento para Síndrome de Angelman" cita:

"Os anticonvulsivantes que provavelmente oferecem benefícios com efeitos adversos limitados incluem clobazam, levetiracetam e clonazepam. A recomendação de consenso é tratar com clobazam ou levetiracetam como terapia de primeira linha e considerar intervenção dietética, incluindo uma dieta cetogênica ou terapia de baixo índice glicêmico".

O artigo também comenta que em situações emergenciais de crises epilépticas prolongadas utiliza-se supositório de diazepam ou midazolan intranasal (o último não é disponível no Brasil).

2. Early intervention to optimize neuroplasticity

Early intervention is essential for the cognitive and motor development of a child with Angelman syndrome. It is crucial to optimize the neuroplasticity window of early childhood. Therapies help to maximize functional abilities and quality of life, promoting a more holistic and adaptive development of the child. Talk to your pediatrician to explore the possibility of referring your child to early intervention therapies such as physical therapy (PT), occupational therapy (OT), hippotherapy, speech therapy, augmentative and alternative communication (AAC), among others.

3. Genetic Counseling for Family Planning

When a woman silently carries the genetic alteration — meaning she carries the alteration but does not manifest the symptoms of the syndrome — there is a 50% probability of transmitting it to her children. Although rare, there are cases where Angelman Syndrome can be inherited. Most hereditary cases are associated with mutation genotypes and defects in the imprinting center.

Therefore, early genetic diagnosis is crucial, not only to confirm the presence of Angelman Syndrome in the individual but also to provide appropriate genetic counseling before a next pregnancy. This counseling is essential to guide family planning decisions, allowing families to make informed choices about having more children, assessing the risks involved, and considering available options such as in vitro fertilization, which, combined with pre-implantation genetic diagnosis, offers a possibility to prevent the transmission of the condition to the next generation.

To learn more about aspects of heredity in Angelman syndrome, click here.

IMPORTANT NOTICE:

If you are wondering about your specific chance of having a baby with Angelman syndrome, it is very important to consult a medical geneticist or a neuropediatrician experienced in rare diseases. The chance varies depending on the test results of the person living with AS and the tests performed on the parents. The information provided here may be useful, but it is not specific to your family and is not intended to replace genetic counseling.

©2024 GAMAS

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