On 12 June 2024, paediatric specialist Dr. Lam Ka-yi shared valuable knowledge about the rare genetic disorder "Angelman Syndrome" on RTHK's programme [Hong Kong Connect]. Here is some of the content from the programme:
What is "Angelman syndrome"?
Angelman syndrome is a rare disease caused by a genetic defect. The condition is named after Dr. Harry Angelman, a British doctor, who in 1965 observed three children with similar symptoms. These included stiff movements, unsteadiness when walking, delayed and absent speech development, frequent excessive laughter, and seizures.
Gene source
This condition is caused by a mutation in the UBE3A gene on chromosome 15. It primarily arises from a deletion in the maternal copy of the 15q11-q13 region of chromosome 15, or from inheriting two copies of chromosome 15 from the father, both of which carry defects.
Symptoms
Children with ‘Angelman syndrome’ exhibit a number of distinctive symptoms, including a wide mouth, widely spaced teeth, a protruding chin, frequent tongue-protrusion, and difficulties with feeding and swallowing.They often display excessive cheerfulness and laugh frequently, and up to 80% of children may experience epilepsy or seizures. Other symptoms include developmental delay, speech impairments, hyperactivity, intellectual disability, microcephaly, sleep disorders and strabismus.
Diagnostic age
Gene mutations can be sporadic, meaning parents have no genetic issues, but the child unfortunately develops a gene mutation. As the symptoms vary, the common age of diagnosis is between 2 and 5 years old, as the symptoms are more apparent in this age group.
How to check for "Angelman syndrome"
General diagnosis is clinical diagnosis, observing facial features and symptoms of illness, combined with family history. Blood tests can be performed to check for gene mutations or deficiencies. Prenatal screening cannot necessarily detect all genetic variations, but if parents notice developmental delays in their child, they should seek medical advice as soon as possible for targeted genetic testing.
Treatment
Currently, there are no medical drugs that can cure "Angelman syndrome", but targeted treatment can be provided based on the child's condition. For example, developmental delays require early intervention and training, epilepsy needs to be controlled with medication, and feeding problems can be addressed by teaching the child proper swallowing techniques.
Parents' coping measures
If children are diagnosed, parents need to provide support for them at home, physically and psychologically, encouraging each other and facing it positively. They should discuss appropriate treatment and developmental training with doctors as soon as possible. There are many support groups in Hong Kong, such as [ ]Hong Kong Angelman Syndrome Foundation, can provide appropriate assistance, and parents can also try to share and exchange experiences with other parents.
Source: RTHK programme [Connect with Hong Kong] (12 June 2024)
