Are children with Angelman syndrome really happy?

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 a 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 in 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 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 This demeanor can be a stark contrast to many other children with NDDs, who may appear withdrawn or aloof.

“For my little angel, that’s a smile. And it means so much more than simply and only happiness.”

Often, observations of this happy demeanor come directly from parents. Mike, the father of 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 believe 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 geneA sequence of nucleic acids that forms a unit of genetic inh... 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 neuroimagingTechniques for viewing the brain and its activity, especiall... 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..., 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.

A smile is at least as good a marker of happiness as any brain scan.

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.

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

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 a 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 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 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.

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...: 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 is a postdoc studying consciousness in the lab of Martin Monti at UCLA. He recently completed his PhD in neuroscience in the lab of Shafali Jeste at UCLA, examining EEGElectroencephalogram, a technique that places electrodes on ... biomarkers of neurodevelopmental disorders. You can also check out Joel's blog Consciousness, Self-Organization, and Neuroscience on Psychology Today. On Knowing Neurons, Joel writes only for himself. For more about Joel's research and writing, please visit Joel's website at joelfrohlich.com.

Latest posts by Joel Frohlich (see all)

Joel Frohlich

Joel Frohlich is a postdoc studying consciousness in the lab of Martin Monti at UCLA. He recently completed his PhD in neuroscience in the lab of Shafali Jeste at UCLA, examining EEG biomarkers of neurodevelopmental disorders. You can also check out Joel's blog Consciousness, Self-Organization, and Neuroscience on Psychology Today. On Knowing Neurons, Joel writes only for himself. For more about Joel's research and writing, please visit Joel's website at joelfrohlich.com.

13 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
  • September 21, 2018 at 7:50 am
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    Beautiful read.

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  • November 1, 2018 at 5:26 pm
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    Thanks for this information I have learned more about Angelman syndrome found this information very interested.

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  • March 4, 2019 at 5:33 pm
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    Thank you for your article and raising this awareness! As a parent of a young person with AS I see their giggling more to do with being distressed or anxious than being happy! It can be very tricky trying to get help for a particular medical problem because of a smile, they were even sent away from hospital with a broken arm because the doctor said showing no signs of pain!

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  • March 5, 2019 at 8:20 pm
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    I cannot say that i agree. People with angelman syndrome are not always happy, they worry, they have anxiety, they remember people and places and routine, they are frustrated by their lack of speach and difficulty to control their movements. Many of them also show signs of agressivity when teenagers. They are easily excitable yes, they can also be happy but they are not ALWAYS happy.

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  • March 6, 2019 at 6:02 am
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    I am a special educator and communication expert who focuses on children with Angelman Syndrome and other NDD in my clinical practice. I work or have worked with nearly 100 individuals with AS over the years. Your view of AS is missing some vital information. First of all, most individuals with AS have some significant anxiety. Some of their smiling is a result to the kind of behavior seen in infants in the blank face study – they are using their positive affect to attempt to gain a connnection with a caregiver to calm their anxiety and provide a secure base. When individuals with AS are unable to create a connection to a trusted caregiver when they are anxious they will often go as far as physically turning the head of their caregiver or pulling their hair to attempt to get eye contact. We see anxiety and related anxious behaviors around transitions, being apart from primary caregivers, changes in routines and often around food as their is a connection with differences on the 15th chromosome and insatiable hunger. Second of all, while most individuals with AS do not speak they do communicate and given ongoing intensive intervention with augmentative and alternative communication individuals with AS are able to learn to request, comment, ask questions, answer questions, joke, and talk about their feelings. These individuals indicate they do plan ahead and think and ruminate about the future and the past. For example. Yesterday I worked with an 11 year old girl with AS. Using her communication device she was able to express that she was scared about her hospital visit happening today. She asked, repeatedly, who would be with her. We got her ready for her visit by watching videos of the procedure and acting them out. She was able to retell the sequence of the procedure with her communication system. In one of the videos she saw a boy eating a grilled cheese sandwich. She quickly found that on her communication system and signed me and looked at me to ask if she would also get a grilled cheese sandwich. Obviously, she was thinking about the future. Like all of my clients with AS she is constantly worried about what is going to happen next, who she will be with and what the expectations will be. Smiling or not, kids with AS have complex emotions. Finally, while we do indeed need a cure, the soone the better, all individuals with AS deserve high quality intervention for communication, cognitive development and emotional health right NOW. Individuals with AS are much more capable than previously thought. They can learn and develop skills, after all they are very advanced in using a happy affect to meet their needs around anxiety. We can’t wait until their is a cure to worr6 about their emotional needs, we need to do it right now!

    Reply
    • March 8, 2019 at 9:52 am
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      Hi Kate, as a junior researcher I have a lot to learn from you and parents, so your comments are all very much appreciated and impactful! I will carefully consider all of your feedback here.

      Reply
    • March 10, 2019 at 8:59 pm
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      Kate, I read this aloud to my mom, we both started laughing in unison at “physically turning the head”…. oh so accurate. my brother is 21 years old with AS and that’s a daily occurrence. He is such a planner. Everything you said here resonates with us. Thank you for sharing this and thank you for understanding so many angels 🙂

      Reply
  • March 6, 2019 at 5:23 pm
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    As a grandma of a 5 year old Angel, thank you for sharing this article.

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  • March 6, 2019 at 6:35 pm
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    You could just ask them if they’re happy. I know plenty of kids who use AAC— communication devices. They’re perfectly capable of telling you.

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  • March 7, 2019 at 9:07 am
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    I respectfully ask that you actually spend time with a person that has Angelman syndrome. My daughter has AS and experiences a full range of emotions just like every other human. She does not speak verbally but she does use a communication system to communicate her thoughts, frustrations, sadness, anger and happiness.
    She is fully included in her school and has many friends. She loves Disney princesses, the color pink and her cheer team. She loves music like Taylor Swift, Disney songs the cha cha slide and many many more. She loves telling Alexa what songs to play during breakfast.
    She works hard every day to overcome her challenges and loves to be just one if the girls.
    Earlier this year, her class was talking about what they are grateful for in their lives and she used her talker to say that she is grateful for music.
    Many assumptions that you have discussed in this blog are outdated and dangerous to the Angelman community because they portray our loved ones as less than human.
    I hope that the comments from myself and other advocates help you to see the error of what you are posting and how potentially damaging this blog is to our community.
    Please take time to get to know people with Angelman syndrome before you post such nonsense.

    Reply

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