Sleep in Angelman & Dup15q Syndromes
The study discusses sleep issues in Angelman Syndrome and Dup15q, two genetic disorders. The researchers found that the same domains are affected in both syndromes, but the presentations are different. In Dup15q, sleep issues were found in 42 out of 67 children, but half of these were due to seizures rather than sleep dysfunction. In Angelman Syndrome, sleep problems are more common than in other healthy children or those with non-AS developmental disabilities. The researchers suggest that the sleep issues in both syndromes could be due to a combination of genetic factors, epilepsy, medication side effects, gastrointestinal symptoms and anxiety. They also found that melatonin was effective in treating sleep issues in many cases. The researchers suggest further studies using more standardised clinical measures and actigraphy to better understand sleep disturbances in these syndromes.
This talk discusses the similarities and differences in sleep patterns between Angelman Syndrome and Dup15q. The authors began their clinic in 2011, focusing on these two syndromes, and found that they share the same domains, such as seizures, sleep, GI, and development. However, the presentation of these domains is different in each syndrome.
Sleep Issues in Dup15q
The authors collected reliable sleep data on 67 children with either classic isodicentric or interstitial Dup15q. They found that 25 children had no sleep issues, while 42 did. However, upon closer examination, half of those with sleep issues were due to seizures, not true sleep dysfunction. Other causes of sleep issues included severe psychiatric disturbance and obstructive sleep apnea. When these clear medical cases were separated, the rate of plain sleep dysfunction was about 25%, similar to the general autism population.
Sleep Issues in Angelman Syndrome
In contrast to Dup15q, sleep problems in Angelman Syndrome are more common and are described in the diagnostic criteria. The authors found that sleep issues are more common in children with Angelman Syndrome than in healthy children or those with non-Angelman related developmental disabilities. Factors contributing to sleep problems in Angelman Syndrome include decreased GABA receptors, epilepsy, certain medications, GI symptoms, and anxiety.
Treatment and Future Research
The authors found that sleep issues in Dup15q tended to be easier to treat than in other genetic syndromes. Melatonin was effective in many cases, and other medications were used with varying degrees of success. For Angelman Syndrome, sleep issues persisted throughout the lifespan but tended to improve with age.
The authors suggest that future research should focus on more standardized clinical measures and actigraphy to better understand sleep patterns in these syndromes. They also recommend examining the relationship between sleep disturbance and its effects on development and cognition.
- Title: Sleep in Angelman & Dup15q Syndromes
- Author(s): Ron Thibert, Shafali Jeste
- Author(s)’ affiliation: Massachusetts General Hospital; UCLA
- Publication date: 2016-09-06
- Collection: 2016 ASF-Dup15q Scientific Symposium