Angelman Syndrome ("Happy Puppet Syndrome")
Respiration and the Potential for Developmental Improvement
Angelman Syndrome, also known as "Happy Puppet Syndrome", is defined as an incurable congenital chromosome disorder. However, improvement is possible if the central requirements of human development i.e. oxygen delivery to the tissues, can be improved.
Although cardio-respiratory complications are described as part of the disease evolution, their origins are not well known. In fact, there is a negative loop between the development of abnormal brain growth and the development of abnormal breathing patterns. Normal brain growth depends on a co-ordinated breathing pattern that supplies both the oxygen and nutrition to the nerves for their cerebral input and the oxygen nutrition to the brain to build new structures. Angelman Syndrome (also known as Happy Puppet Syndrome) causes a retardation of respiratory development which presents a roadblock to the growth of neurobiological systems and thus neurological development.
The problem arises for two reasons:
- All parts of the brain affect respiratory development, therefore abnormalities in brain growth will always present abnormalities in breathing.
- Normal respiratory development depends on normal motor development which begins before birth. This abnormal motor development also causes abnormal breathing.
Thus brain growth is not simply a reflection of an automatically unfolded generic blueprint; it is dependant on the development of a flexible respiration system that supports the metabolic oxygen needs of the child’s developing activities. The breathing of the child with Angelman Syndrome, also known as Happy Puppet Syndrome, does not respond flexibly to meet those demands for oxygen in a sufficient or balanced way. This means the possibility of creating more normal function by more normal input is poor, thus the neurological growth is locked into an abnormal pattern.
In normal development:
- Normal sucking and swallowing requires good respiratory co-ordination to avoid aspiration.
- Normal seated posture requires good respiratory co-ordination because the diaphragm, the main respiratory muscle, is also the main postural muscle.
- Normal digestion and elimination requires good respiratory co-ordination because the breakdown of food in the stomach requires as much oxygen as the skeletal muscles during exercise and the stool is pushed out by co-ordinated diaphragm movement.
- Normal sleep patterns depend on good respiratory co-ordination because breathing pattern changes during sleep. Firstly to facilitate the metabolic work of the deep internal organs to provide the nutrition the muscles and the brain will later use. Secondly, to provide the oxygen nutrition to the brain during sleep, when vital neurobiological growth takes place. Respiratory co-ordination during sleep is therefore critical in early development.
- Respiration is also fundamental to speech development; this is because we learn to speak on a column of air created by our breathing. Moreover air flow is controlled by the diaphragm thus speech production is both physically and mentally highly dependant on oxygen.
The developmental problems of children with Angelman Syndrome or Happy Puppet Syndrome are therefore not simply genetic. Their situation also becomes more encouraging because their breathing can be improved and, as a result, functional improvements can be expected.
The Scotson Technique (TST) exercises are gentle and visibly improve children’s muscular skeletal structure which reflects changes in respiratory growth and development. As a result, encouragingly, more normal function can steadily be expected in many areas for those suffering from Angelman Syndrome (Happy Puppet Syndrome).
"A child with a drawing" by Giovanni Francesco Caroto.
This painting was originally called "Boy with a Puppet" and inspired the term "Happy Puppet Syndrome", the initial description of Angelman Syndrome.Actor Colin Farrell with his son James who was born with Angelman Syndrome. Image credit: spielster.blogspot.com