Are children with Angelman syndrome really happy?

Imagine that your child has a neurological condition. A condition that could stop your child from ever speaking or walking. A condition that keeps your child awake at night. A condition that gives your child multiple seizures each week or even day. A condition that makes your child happy.

Happy?

This condition is Angelman syndrome—a rare but serious genetic syndrome that impairs brain development. Children with Angelman syndrome are born with this condition, which may be caused either by a mutation in a geneA sequence of nucleic acids that forms a unit of genetic inh... More called UBE3A or a large deletion of the chromosome containing this gene. As you might guess, this gene is crucial to healthy brain development.

As a graduate student, I’ve had the privilege of studying Angelman syndrome and related neurodevelopmental disorders. Sometimes abbreviated NDDs, these are conditions that impair brain development.

My own research with NDDs is very applied: I look at electrical brain activity from these children and ask how it can help us better predict if a child’s quality of life is likely to improve, or whether a child is 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?

The majority of children with Angelman never learn to speak. Some never learn to walk. Children with Angelman have such frequent seizures that they often wear helmets for protection. 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 This demeanor can be a stark contrast to many other children with NDDs, who may appear withdrawn or aloof.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. Consider Annie, the mother of a son with Angelman named Ollie. She is quoted online by the Daily Mail saying, “Ollie’s smile and happy personality just makes everything worthwhile. I can be seriously sleep deprived but his smile never fails to cheer me up.”

Another parent named Gale is quoted online by the Daily Mirror about her son Elliot. She says, “At the end of the day when you have children you just want them to be happy, and Elliot always is.”

This observation doesn’t just come from parents. Research papers on Angelman syndrome commonly list a “happy demeanor” as a core trait of the condition.

In a 1995 paper authored by Angelman researcher Dr. Charles Williams and his colleagues, a happy demeanor with smiling and laughing is listed as a consistent trait seen in every child with Angelman syndrome! Luckily, this makes happiness even more common to Angelman syndrome than seizures, which are seen in only 80 percent of these children.

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. But most children with Angelman syndrome can’t talk. And that’s a problem if we want to know if they’re really happy.

“But most children with Angelman syndrome can’t talk. And that’s a problem if we want to know if they’re really happy.”

There are also patterns of brain activity that coincide with happiness. We can observe these patterns with neuroimagingTechniques for viewing the brain and its activity, especiall... More 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.

CorrelationAn association between two quantities such that one varies w... More, however, doesn’t imply causation. So, 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 constant misery.

“Maybe a person with Angelman syndrome looks happy but feels constant misery.”

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 don’t have the same worries or self-awareness as adults, likely because they lack the engine that drives such self-awareness. Without a developed prefrontal cortex, life can be quite worry-free. For example, mood disorders like depression begin, on average, around age 30. Children are generally happier than adults.

In typical development, the prefrontal cortex begins large changes in its organization around age 9. These changes, which continue into a person’s late 20s, give the prefrontal cortex a more mature architecture by eliminating unused connections between neurons.

“Is health a means towards happiness, or an end unto itself?”

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.

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?

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 trod 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 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.

Illustration by Huixuan Liang.

 

References

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... More: 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.

Joel Frohlich

Joel Frohlich graduated from the College of William and Mary in 2012 with a BS in neuroscience. He is currently working towards his PhD in the lab of Shafali Jeste at UCLA, examining EEGElectroencephalogram, a technique that places electrodes on ... More biomarkers of neurodevelopmental disorders. His recent research has focused specifically on autism and duplication 15q11.2-13.1 (Dup15q) syndrome. He was recently a student intern at F. Hoffmann-La Roche in Basel, Switzerland and currently blogs for Psychology Today. On Knowing Neurons, Joel speaks only for himself.

Latest posts by Joel Frohlich (see all)

Joel Frohlich

Joel Frohlich graduated from the College of William and Mary in 2012 with a BS in neuroscience. He is currently working towards his PhD in the lab of Shafali Jeste at UCLA, examining EEG biomarkers of neurodevelopmental disorders. His recent research has focused specifically on autism and duplication 15q11.2-13.1 (Dup15q) syndrome. He was recently a student intern at F. Hoffmann-La Roche in Basel, Switzerland and currently blogs for Psychology Today. On Knowing Neurons, Joel speaks only for himself.

2 thoughts on “Are children with Angelman syndrome really happy?

  • February 9, 2018 at 10:14 pm
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    That was an interesting read. Loved the way you presented it. 🕊☺

    Reply

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