Are your doctors well versed in identifying and treating this? You better ask now while you still have the ability to talk.
Locked-in syndrome revisited
Abstract
The
locked-in syndrome (LiS) is characterized by quadriplegia with
preserved vertical eye and eyelid movements and retained cognitive
abilities. Subcategorization, aetiologies and the anatomical foundation
of LiS are discussed. The damage of different structures in the pons,
mesencephalon and thalamus are attributed to symptoms of classical,
complete and incomplete LiS and the locked-in plus syndrome, which is
characterized by additional impairments of consciousness, making the
clinical distinction to other chronic disorders of consciousness at
times difficult. Other differential diagnoses are cognitive motor
dissociation (CMD) and akinetic mutism. Treatment options are reviewed
and an early, interdisciplinary and aggressive approach, including the
provision of psychological support and coping strategies is favoured.
The establishment of communication is a main goal of rehabilitation.
Finally, the quality of life of LiS patients and ethical implications
are considered. While patients with LiS report a high quality of life
and well-being, medical professionals and caregivers have largely
pessimistic perceptions. The negative view on life with LiS must be
overthought and the autonomy and dignity of LiS patients prioritized.
Knowledge has to be disseminated, diagnostics accelerated and technical
support system development promoted. More well-designed research but
also more awareness of the needs of LiS patients and their perception as
individual persons is needed to enable a life with LiS that is worth
living.
Introduction
The
locked-in syndrome (LiS) was first described by Plum and Posner 1972
and is one of the most disabling entities. Patients are locked in their
own bodies, unable to move due to quadrioplegia, except for vertical eye
and eyelid movements. Although no other voluntary muscle movements are
possible, cognitive abilities of the patients are not impaired.1
In 1979, Bauer et al.
introduced further subcategorizations: he distinguished the classical
LiS from the complete and incomplete LiS to describe patients whose
capacity of voluntary movements went below or above the classical LiS
motor symptoms. In complete LiS, no voluntary movements are achievable
at all, and patients lack any possibility to communicate directly, which
makes further diagnostics indispensable. Incomplete LiS is a less
severe form, which can also be a transitory stage of recovery, where
patients are able to execute more voluntary movements than in the
classical form of LiS.2
For patients who additionally suffer from disturbances of
consciousness, the term locked-in plus (LiPS) was introduced, by the
Salzburg Coma Group.3
Nevertheless,
the first literary description of LiS was written long before these
modern medical ones, by Alexandre Dumas in his novel The Count of Monte Cristo
in 1844. Monsieur Noirtier de Villefort, a key character, is not able
to speak, ‘motionless as a corpse, he greeted his children with bright,
intelligent eyes . . . ’. Dumas even showed that he understood the basic
aetiology of LiS as he describes strokes and brain bleeds in his story.4 As a metaphor for human existence, LiS can be found throughout fictional literature.5 As Kondziella6
shows, even complete LiS was described long before the medical
community became aware of it by Roald Dahl in a short story William and
Mary (1959).
One of the most influencing non-fictional books on the topic is The Diving Bell and the Butterfly
written by Jean-Dominique Bauby in 1997 by blinking. The author,
himself suffering from LiS, gives very personal and touching insights
into the life of a LiS patient and shows the pain but also beautiful
moments of his existence in this autobiography.7
LiS
is a very rare syndrome and no exact incidence or prevalence is known.
In 1986, Patterson and Grabois obtained a sample of 139 cases including
six own cases and cases from a literature review. They found a mean age
of onset of 52 years (range: 16–90) with more males than females
affected (85 to 52). A total of 89 patients were diagnosed with
classical, 46 incomplete and 3 complete LiS (one unclassified); 10
patients showed transient states. Eighty-two patients suffered an
infarction of the pons, other vascular and non-vascular etiologies being
less common. Roughly one third of the patients had a history of
hypertension. A mortality rate of 60% was reported, but no time frame
given, although the majority of deaths occurred within the first 4
months after onset.8 A newer study reports a mortality rate of 75% in the acute phase.9 The most reported causes of death are pulmonary complications and further brainstem damage.8,9
Sensory perception varied wildly in the population from normal to
absent. It was also shown that substantial recovery is possible8,10–16 and can continue over years,17 possibly by reorganization of the descending pathways.18 One survey of chronic LiS patients showed a recovery of functional movements in 72%.19 Distal motor functions are more likely to recover,20 and even when large brainstem strokes are apparent in magnetic resonance imaging (MRI), substantial recovery is possible.21
In 2013, a study estimated a prevalence of 0.7/10,000 patients with classical LiS in Dutch nursing homes.22 ALIS (Association of Locked-in Syndrome) in France states on its website that more than 500 French people live in LiS in 2022.23 Life expectancy has improved in the last decades for LiS patients,24 some living for many decades in LiS.25
The
aim of this review is to give an up-to date overview of LiS, focusing
on anatomy, pathophysiology, treatments, quality of life, ethics and new
developments in the field. Not only are the structures that can be
affected in LiS and the resulting symptoms discussed but also the
anatomical foundations of LiPS. Moreover, differential diagnosis of LiS
that have to be considered and treatment options are recapitulated.
Finally, ethical considerations are presented. This review is important
to inform and raise awareness about LiS and counteract prevalent
misconceptions about this rare disease among medical doctors and other
health care staff.
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