Emotional recognition, experience and empathy in persons with Moebius syndrome and persons with congenital bilateral facial paralysis.

Social cognition, or the way in which people make sense of other people and
themselves, is a crucial element of social interactions. We often effortlessly
understand what goes on in other people despite the fact that their goals and
feelings are hidden from outside sight, inside their own brains. The simple act
of being able to smile or frown to indicate pleasure or annoyance is one that
happens spontaneously in the majority of the population. If we are able to
understand the emotions of others by sharing their facial expressions, the
intriguing question arises as to what happens in individuals who are unable to
make facial expressions. We have identified such a group of people: those with
congenital bilateral facial paralysis and specifically Möbius Syndrome.

Möbius Syndrome is a condition present from birth affecting mainly the 6th and
7th cranial nerves. It is defined as congenital facial weakness combined with
the impaired ability to move the eyes to the side, and often includes physical
deformities such a clubfeet, webbed digits, drooling, and an abnormally small
jaw. The most striking feature of patients with Möbius syndrome is the
mask-like faces due to the affected seventh cranial nerve.

It is only recently that a more definite diagnosis of Möbius syndrome has been
agreed upon as *congenital facial palsy with impairment of ocular abduction*.
Until the advent of the genetic studies (Verzijl et al 2003) it was believed
that a group containing what is now known as *congenital facial palsy* (in some
cases hereditary) also had Möbius syndrome. The genetic background now appears
to be different: Möbius syndrome arises from a development disorder of the
lower brainstem; hereditary congenital facial palsy does not. The latter is a
general nuclear development disorder. We have also come to understand that
since Möbius is such a rare disorder its diagnosis may often take years before
it is recognised. The afflicted persons are labelled as having congenital
bilateral facial paralysis. For our purposes, we are inherently interested in
the fact that the person cannot perform facial expressions.

There has been some research carried out on Möbius patients, but the vast
majority of this has been based on medical analysis i.e. which nerves are
affected, possible genetic factors and the resulting physical deformities.
There has been very little emotional or psychological research done in this
area.

Understanding others by automatically *putting yourself into someone else*s
shoes* is an essential component of social life, as it gives an intuitive
nature to the relationships between humans. This is basically, in lay terms,
what we mean by empathy. Looking at the normal development of empathy more
specifically, it is not considered to be innate in life. However, this function
seems to develop gradually while persons participate in daily social life: it
involves acting yourself (and by doing this, experiencing emotions) and
observing actions of other people. Coupling other peoples* emotions with your
own experience - which is the basis of empathy - takes place by means of
communication (e.g. facial expressions, (body) language). People with Möbius
Syndrome and congenital bilateral facial paralysis are unable to perform
facial expressions themselves, so does this mean that they are deprived of the
capacity to share the facial expressions of other people? In other words, are
the internal neural circuits still activated, despite the fact that the
responding facial expression cannot be generated?

The investigation of social cognition and its dysfunctions has long been
dominated by the idea that a specific module is responsible for our capacity to
attribute mental states to others (Theory of Mind module). In the last decade
however, our understanding of how we understand the actions, emotions and
sensations of others has significantly changed. In this newly emerging model,
understanding others can be achieved through two normally complementary routes:
one automatic and based on an internal simulation of the actions, emotions and
sensations of the other (*shared circuits*), the other, more deliberate and
cognitive, is based on the entertainment of explicit thoughts about the beliefs
and emotions of others .

We have shown that neurons in the premotor cortex of the monkey respond both to
the monkey*s own execution of hand actions and to the sight of someone else
performing similar actions. This is true, even when the actions of others can
only be heard or guessed. These neurons appear to translate the sight of
someone else*s actions into a language well known to the observer: his or her
own actions. This translation creates a strong and intuitive link between the
observing and the observed individual. Recently, we have shown that in analogy
to these mirror neurons, the observation of someone else*s disgust triggers
activity in the anterior insula in voxels also activated while the subject
himself is being disgusted in the scanner. Lesions in the anterior insula have
been shown to decrease both ones ability to feel disgusted, and to recognise
disgust in the facial expression of others showing the importance of this
system in social cognition. We have also shown that observing someone else
being touched activates the observer*s secondary somatosensory cortex as if
he/she had been touched. Together this body of evidence suggests that
understanding others may rely not only on the existence of a domain unspecific
theory-of-mind module, but also on a series of systems (e.g. premotor cortex,
insula and SII) normally involved in our own actions, emotions and sensations,
that we will call 'shared-circuits'.

The core approach of our proposed project is to investigate three aspects of
emotional recognition in the Möbius and congenital bilateral facial paralysis
populations through observed facial expressions, and the possible link between
them, as follows:

a. By quantifying the degree of facial paralysis (deafferentiation) and
somatosensory sensitivity
b. By quantifying the capacity to recognise emotions from observed facial
expressions
c. By quantifying the degree to which the motor somatosensory areas are
activated whilst watching emotional facial expressions during neuroimaging
(fMRI) studies.

The overall goal of this proposed project is to explore the link between the
capacity to generate facial expressions and the capacity to recognise emotions
displayed through facial expressions in others. Through this research we hope
to provide better understanding of the cognitive impact of congenital bilateral
facial paralysis to help patients deal with the challenges of their condition
that may not yet have been recognised.

The proposed study is separated into two distinct participatory sections: Part
I and Part II. Part I is to be carried out in the volunteer*s own home; Part II
takes places at the Neuroimaging Centre in Groningen. Research participants can
elect to take part only in Part I or in Part I AND Part II.

PART I
To be carried out in the volunteer research participant*s home involves:
Davis Interpersonal Reactivity Index Questionnaire
De Bermond-Vorst Alexithymia Questionnaire
Raven Progressive Matrix Questionnaire

Neurological testing: Semmes-Weinstein Monofilament Test
Ocular Motility: Four Point Eye Movement Test
Visual Acuity: Warrington Face Memory Recognition Test

Emotional expression recognition: Montagne-Perrett Morphed Faces Program
(Montagne et al. 2007)
Emotional/facial expression generation: filming of participant generated facial
expression corresponding to happiness, disgust, fear, neutral, and the motor
function of chewing

PART II
To be carried out at the Neuroimaging Centre, University Medical Centre
Groningen involves:
Neuroimaging (fMRI) studies whilst participant views short film clips of
emotions
Neuroimaging (fMRI) studies whilst participant executes emotional gestures and
chewing movements

Rating of the film clips (as seen during the scan) after completion of the fMRI
scan using the basic six emotions

Autism Diagnostic Observation Schedule (ADOS) Questionnaire/Interview

BENEFIT/GROUP RELATEDNESS
Through this research we hope to provide better understanding of the cognitive
impact of Möbius syndrome and congenital bilateral facial paralysis to help
patients deal with the challenges of their condition that may not yet have been
recognised. We also want to elucidate further the areas involved in the brain
in empathic functioning.

BURDEN
As discussed in E9 and E9a there is minimal burden to participants in this
study.

RISKS
The extent of the minimal risks are due to the MRI scanning section of the
proposed project, and so far no side effects have been described in the
literature. We will responsibly advise participants of these (as in E7), and
they also have access to our independent medical expert in the event of any
worries or queries.