This post was updated on April 24, 2019 to incorporate feedback from parents. Names have been changed to protect anonymity.
What is health? What is happiness? We generally imagine the relationship between these two concepts to be simple. A healthy life is a happy life. A life of health challenges, such as delayed development, seizures, and insomnia, is less likely to be a happy life.
This simple picture is challenged by Angelman syndrome, a rare but serious genetic syndrome that impairs brain development. Angelman syndrome checks all the boxes above: delayed brain development, frequent seizures, severe sleep problems. And yet, even while individuals with Angelman syndrome fail to flourish in some ways, on the whole they often appear genuinely happy.
As a junior researcher, I’ve had the privilege of studying Angelman syndrome and related neurodevelopmental disorders. Sometimes abbreviated NDDs, these are conditions that impair brain development. Because most research on Angelman syndrome has been done on children, I’ll be referring to these individuals in this post.
My own research with NDDs as a graduate student was very applied: I looked at electrical brain activity from these children and asked how it could help us better predict if a child’s quality of life is likely to improve, or whether a child is a part of a smaller group within a particular NDD that would respond similarly to treatment.
These questions don’t directly address the demeanor of children with Angelman syndrome. But maybe it’s time to also consider this piece of the puzzle. So, what do children with Angelman syndrome look like?
Most children with Angelman also have frequent seizures. Many have difficulty sleeping. The majority never learn to speak verbally and use special strategies, referred to as augmentative and alternative communication or AAC, to communicate with symbols.
And yet, one of the most common observations of children with Angelman is that they’re happy. This demeanor can be a stark contrast to many other children with NDDs, who may appear withdrawn or aloof.
Often, observations of this happy demeanor come directly from parents. Mike, the father of a boy with Angelman named John, finds his son to be happy. “Is John happy? Well, I’d say yes. We have always described him as a ‘sweet and happy little boy,’” says Mike. “John rarely cries. He finds pleasure in so many things.”
While Mike believes his son to be happy, he also believes that laughter in Angelman syndrome may indicate a range of emotions. “[W]hen John did have frequent seizures, he would invariably come out of them with a big smile and giggle. Was this happiness, or was this an expression that said, ‘Ok Dad, it’s over, I’m better now?' I don’t know, I think it was his way of communicating with a universal signal that said things are ok. For my little angel, that’s a smile. And it means so much more than simply and only happiness.”
The frequent observation that kids with Angelman syndrome seem happy doesn’t just come from parents. Research papers on Angelman syndrome commonly list a “happy demeanor” as a core trait of the condition. This doesn’t mean that all children with Angelman are happy, or that those who appear this way are happy all the time. However, a 1995 paper authored by Angelman researcher Dr. Charles Williams and his colleagues listed a happy demeanor with smiling and laughing as a consistent trait seen even more frequently in Angelman syndrome than seizures. This suggests that parents and researchers alike often consider frequency laughing and smiling to be a core aspect of Angelman syndrome.
There is no cure for Angelman syndrome. Yet. Because we have identified the gene that causes Angelman syndrome, it’s possible that a cure will emerge in the near future. There’s no question that parents want a cure. But we might ask ourselves—are children with Angelman really happy? And if so, what are the implications for cures or treatments?
To know if someone is happy, we would normally ask them, “Are you happy?” In most psychology research, you might ask this of the patient with a questionnaire or self-report. Given that most children with Angelman need an AAC device to communicate, however, it could be difficult to publish research in which kids with Angelman answer this question.
There are also patterns of brain activity that coincide with happiness. We can observe these patterns with neuroimaging techniques that generate 3D images of brain activity. Bright pixels light up to show us which parts of the brain are using more energy when someone is happy.
Correlation, however, doesn’t imply causation. So even while we know that emotions come from the brain, if your brain shows this pattern of activity, it doesn’t necessarily mean that the pattern makes you happy. Yet it does mean that, statistically, you’re more likely to be happy than someone not showing this pattern of brain activity.
Alas, there simply aren’t many neuroimaging studies of Angelman syndrome. The brain scans of these children that would show such a pattern (if it’s there) just aren’t out there.
But that’s fine because we probably don’t need them.
See, things like smiling and laughing are also correlated with being happy. And according to some theories of emotion, it’s these bodily behaviors that actually make us feel happy. Evidence for this idea, known as the facial feedback hypothesis, is mixed. But regardless of whether smiling makes us happy or is merely correlated with being happy, a smile is at least as good a marker of happiness as any brain scan.
Now, without actually being a person with Angelman syndrome, it’s impossible to really know what this happy demeanor feels like from the inside. Maybe a person with Angelman syndrome looks happy but feels differently.
Nonetheless, our best guess is that these kids are often quite happy. Why might that be?
As humans, we have the unique ability to project ourselves into the future and consider events that have not yet happened. Because of this, we often find ourselves lost in thought. As we walk to work or shop for groceries, we find ourselves ruminating on our next meal, our next conversation, or our next paycheck.
The engine that drives much of this rumination is a part of the brain called the prefrontal cortex. This is one of the last parts of the brain to develop, and it is not fully mature until early adulthood. The prefrontal cortex is generally involved in thinking ahead and planning. It is also involved in social knowledge about ourselves and others. So, when you feel self-conscious or embarrassed, your prefrontal cortex is involved.
Young children (including typically developing kids) don’t have the same worries or self-awareness as adults, likely because they lack the engine that drives such self-awareness. Without a fully developed prefrontal cortex, young children can still feel anxiety. However, the quality and focus of the anxiety may be different. For example, mood disorders like depression begin, on average, around age 30. This suggests that children are generally happier than adults.
In typical development, the prefrontal cortex begins large changes in its organization around age nine. These changes, which continue into a person’s late 20s, give the prefrontal cortex a more mature architecture by eliminating unused connections between neurons.
Now consider children with Angelman syndrome. These children’s brains are unlikely to ever fully develop. The typical trajectory of maturation and development, described above, stumbles or stalls.
Given that most children with Angelman never learn to talk, we infer that their brains are less developed than those of other children their age. Without a fully developed prefrontal cortex, these children may actually experience life without rumination or intense self-awareness. Children with Angelman syndrome still experience anxiety, but likely in a different way than adults. Could this explain why they seem happy?
Sooner or later, it’s possible that a treatment or cure will be developed for Angelman. And we certainly would welcome a cure for the seizures, insomnia, and developmental delay. But would we want a cure for Angelman syndrome if it also took away these children’s happiness?
This poses a strange challenge to our concept of health and wellbeing. Is health a means towards happiness, or an end unto itself? Imagine a treatment that makes someone both healthier and less happy. Is this a paradox?
Mike is skeptical of the possibility that treatment for Angelman would affect children’s happy demeanor. “[W]ould I want a cure for John if that cure took away his happiness? I honestly do not believe a cure would do that to him. I think there’s something that makes kids (people) sweet, caring, and endearing. And John has those attributes.”
Perhaps Mike is right and these fears are unfounded. But in case they’re not, we can also approach this challenge from the other direction. Would it be right to develop a treatment that makes someone less healthy but happier? Could one treat adults with mood disorders by making them more like children with Angelman syndrome?
Indeed, this path has been trodden before. The prefrontal lobotomy is a medical procedure that treats psychiatric disorders by effectively destroying the prefrontal cortex. In the early twentieth century, this procedure was developed after observing that it actually made chimpanzees calmer.
The first patient to undergo this procedure in the United States was a woman with depression named Alice Hammatt. After the procedure, her behavior in some ways resembled that of someone with Angelman syndrome. She temporarily lost the ability to speak but was reported to be happier and free of anxiety.
Of course, most of us agree that it’s horribly unethical to disrupt a part of the brain so central to planning, intelligence, and self-awareness. By the same token, every child has a right to realize these abilities. Thus, withholding a cure for Angelman would be unethical.
The truth is, it’s a great oversimplification to say that kids with Angelman syndrome are always happy. Many of these kids have multiple seizures a day that can potentially injure or even kill them. They may not be able to walk or talk—ever. Their parents are primary caregivers for life. They may be changing their children’s diapers for decades.
We need a cure for Angelman syndrome. Then, we can talk about how to keep these kids happy.
This post also appeared on Knowing Neurons.
Williams, C. A. (1995). Angelman syndrome: consensus for diagnostic criteria. American journal of medical genetics, 56(2), 237-238.
Habel, U., Klein, M., Kellermann, T., Shah, N. J., & Schneider, F. (2005). Same or different? Neural correlates of happy and sad mood in healthy males. Neuroimage, 26(1), 206-214.
Wagenmakers, E. J., Beek, T., Dijkhoff, L., Gronau, Q. F., Acosta, A., Adams Jr, R. B., … & Bulnes, L. C. (2016). Registered Replication Report: Strack, Martin, & Stepper (1988). Perspectives on Psychological Science, 11(6), 917-928.
Hamilton, J. P., Farmer, M., Fogelman, P., & Gotlib, I. H. (2015). Depressive rumination, the default-mode network, and the dark matter of clinical neuroscience. Biological psychiatry, 78(4), 224-230.
Wagner, D. D., Haxby, J. V., & Heatherton, T. F. (2012). The representation of self and person knowledge in the medial prefrontal cortex. Wiley Interdisciplinary Reviews: Cognitive Science, 3(4), 451-470.
Kessler, R. C., Berglund, P., Demler, O., Jin, R., Merikangas, K. R., & Walters, E. E. (2005). Lifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey Replication. Archives of general psychiatry, 62(6), 593-602.
Freeman, W., & Watts, J. (2014). Thinking with the ThalamusA subcortical structure that serves as a relay between senso...: The Rhetoric of Emotional Impairment. American Lobotomy: A Rhetorical History, 20.
Kolb, B., Mychasiuk, R., Muhammad, A., Li, Y., Frost, D. O., & Gibb, R. (2012). Experience and the developing prefrontal cortex. Proceedings of the National Academy of Sciences, 109(Supplement 2), 17186-17193.