Angelman syndrome (AS) is a genetic condition that causes problems with the way a child's body and brain develop. The syndrome is present from birth (congenital). However, it often isn't diagnosed until about 6 to 12 months of age. This is when development problems are first noticed in most cases.
This condition involves the gene UBE3A.
Most genes come in pairs. Children receive one from each parent. In most cases, both genes are active. This means information from both genes is used by the cells. With the UBE3A gene, both parents pass it on, but only the gene passed on from the mother is active.
Angelman syndrome most often occurs because UBE3A passed on from the mother doesn't work the way it should. In some cases, AS is caused when two copies of UBE3A gene come from the father, and none come from the mother. This means neither gene is active, because they both come from the father.
In newborns and infants:
In toddlers and older children:
Most children with this disorder don't show symptoms until about 6 to 12 months. This is when parents may notice a delay in their child's development, such as not crawling or starting to talk.
Children between 2 and 5 years of age start to show symptoms such as jerky walking, happy personality, laughing often, no speech, and intellectual problems.
There is no cure for Angelman syndrome. Treatment helps to manage health and development problems caused by the condition.
Lynne Bird is a Pediatrics specialist and a Medical Genetics expert in San Diego, California. Bird has been practicing medicine for over 36 years and is rated as an Elite expert by MediFind in the treatment of Angelman Syndrome. She is also highly rated in 19 other conditions, according to our data. Her top areas of expertise are Angelman Syndrome, Prader-Willi Syndrome, Sialidosis, and Mucolipidosis 3. Bird is currently accepting new patients.
Karin Buiting practices in Essen, Germany. Buiting is rated as an Elite expert by MediFind in the treatment of Angelman Syndrome. She is also highly rated in 12 other conditions, according to our data. Her top areas of expertise are Angelman Syndrome, Macroglossia, Beckwith-Wiedemann Syndrome, and Gigantism.
Ype Elgersma practices in Rotterdam, Netherlands. Elgersma is rated as an Elite expert by MediFind in the treatment of Angelman Syndrome. They are also highly rated in 13 other conditions, according to our data. Their top areas of expertise are Angelman Syndrome, Neurofibromatosis Type 1 (NF1), Neurofibromatosis, and RASopathies.
Angelman Syndrome Foundation: www.angelman.org
AngelmanUK: www.angelmanuk.org
People with AS live close to a normal lifespan. Many have friendships and interact socially. Treatment helps improve function. People with AS can't live on their own. However, they may be able to learn certain tasks and live with others in a supervised setting.
Complications may include:
Call your health care provider if your child has symptoms of this condition.
There is no way to prevent Angelman syndrome. If you have a child with AS or a family history of the condition, you may want to talk with your provider before becoming pregnant.
Summary: This is a Phase I, multicenter, non-randomized, adaptive, open label, multiple ascending, intra-participant, dose-escalation study with an LTE part. The objective of the study is to investigate the safety, tolerability, PK and PD of RO7248824 in participants administered IT with AS. Two linked sets of dose escalation cohorts are planned based on two different age groups, namely participants with A...
Summary: This is a two-part, Phase IIa, multicenter, 12-week, open-label study. Up to 56 participants with deletion Angelman Syndrome (AS) aged 5-17 years (inclusive) will be enrolled in the study.
Published Date: July 30, 2021
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Dagli AI, Mathews J, Williams CA, et al. Angelman syndrome. In: GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2022. 1998 Sep 15 [updated 2021 Apr 22]. PMID: 20301323 pubmed.ncbi.nlm.nih.gov/20301323/.
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