Emotional and Psychological
Implications of Early AD Diagnosis
Pascal Antoine, PhDa,b,*, Florence Pasquier, MD, PhDa,c,d
Funding sources: Ministe `re de l’Enseignement et de la recherche.
Conflict of interest: Pr Antoine: no conflict of interest; Pr Pasquier: participated in several phar-
maceutical and diagnosis trials sponsored by pharmaceutical companies, including Eisai, Ipsen,
BMS, Pfizer, Sanofi, Eli-Lilly, Bayer, and Noscira, and punctually served in advisory and scientific
boards for Janssen-Cilag, Eli-Lilly, Ipsen, Servier, Bayer, and Novartis.
aUniversity Lille Nord de France, F-59000 Lille, France;
URECA, F-59653 Villeneuve d’Ascq, France;cUDSL, EA 1046, CHU de Lille, F-59000 Lille, France;
dDepartment of Neurology, Memory Center, University Lille, CHRU, Lille cedex 59037, France
* Corresponding author. University Lille 3, URECA EA 1059, 59653 Villeneuve d’Ascq, France.
E-mail address: firstname.lastname@example.org
bDepartment of Psychology, UDL3,
? Emotion? Psychology? Early diagnosis? Alzheimer disease? Early-onset dementia
?Genetic screening ?Caregiver ?Diagnosis disclosure
Performing the diagnosis of Alzheimer disease or related disorders is considered central for
In patients with cognitive impairment, the diagnosis usually involves both the patient and
a close relative (mostly a spouse) who will likely become the patient’s caregiver, then the
family and the social environment, thus changing dramatically the patient’s status and role.
Early diagnosis increases the patient’s empowerment.
? The disclosure situation seems to be a source of ethical conflicts that the clinician has to
resolve on a daily basis.
? Early diagnosis issues are communicating uncertainty, enabling anticipation, adjusting to
the patient’s awareness of the disorder, not depriving the patients of their right to know,
not confounding the moral pain of the disclosure with the suicidal risk, and developing
one’s skills for managing complex communications.
? Early-onset dementia is poorly known and consequently prone to frequent diagnosis
? The genetic consultation is a unique support framework regarding the emotional implica-
tions associated with screening, taking into account the existential dimensions concerned
by genetic issues.
Med Clin N Am 97 (2013) 459–475
0025-7125/13/$ – see front matter ? 2013 Elsevier Inc. All rights reserved.
Previously, AD was diagnosed only at the late dementia stage.1Dementia was
defined as a syndrome of progressive decline from a prior level of functioning, in
memory and in one or more other cognitive domains, present for at least 6 months
and causing significant impairment in social or occupational functioning.2Improve-
ment in clinical, biologic, and imaging tools progressively made possible the diag-
nosis of probable AD before the late stage of full-blown dementia, at a stage in
which autonomy is preserved even if some changes had appeared in the daily life
of the patients, taking them to see a physician. We talk here about early AD, mild
cognitive impairment due to AD,3or prodromal AD,4the borders between these
terms being vague. We will not deal with the preclinical stage of AD. When the diag-
nosis was made at the full-blown dementia stage, the patients were barely con-
cerned by the diagnosis and dementia was obvious for the family. The “only”
shock was to disclose a disease, rejecting the simple effect of aging, and to
name it, with a frightening name. We know now that AD develops for a long and vari-
able amount of time before becoming fully apparent, and it can progress undiag-
nosed for years. The very first cerebral changes underlying AD probably appear
20–30 years before the first clinical symptoms. When the symptoms appear, the
diagnosis can be made upon a bundle of clinical arguments5: subjective complaint
of the patient, observation of significant changes by the family circle, medical
history, neuropsychological testing, and a more or less comprehensive workup
including neuroimaging and biologic tests. Still, most of the patients are diagnosed
at a late stage.
The issue of an early diagnosis is far from unequivocal because it is at the cross-
road of 2 distinct but interdependent phenomena: neuropathology and the experience
of the patient and the entourage. In addition, it seems to be raised as an alternative to
the current diagnosis, which is “late,”5in the sense that it is “too late” to curb or inflect
the progression of the disorders and “too late” because the patients may no longer
have the capacities necessary to decide for themselves the arrangements that they
could have deemed as relevant. This late nature reduces the chances of getting the
necessary aids and the patients’ empowerment.6Two perspectives open up: (1)
that of an early diagnosis, with reference to neuropathology, rendered possible simul-
taneously by improving the diagnostic tools and the health system, especially via the
proactive screening of elderly people or (2) that of a timely diagnosis, with reference to
the subjective experience of the disease, meeting the concerns of those who may be
affected by the disease.7This article is in line with the latter perspective. Although the
debate on the positive and negative consequences of the diagnosis of AD has been on
for 2 decades, there is still a gap between guidelines and medical practices. In 2011,
Alzheimer’s Disease International published a report on the benefits of early diagnosis
and intervention.5More recently, in February 2012, the Alzheimer’s Association pub-
lished an executive summary pleading for increasing disclosure of dementia
GUIDELINES IN FAVOR OF EARLY DIAGNOSIS
The guidelines published over the past 20 years led to an increased ethical
consensus on the value of the diagnosis and its disclosure. Performing a diagnosis
is considered to be central for high-quality care,9and ethical recommendations
stress the prominence of straightforward communication between the physician
and the patient with regard to the diagnosis as well as the associated emotional
Antoine & Pasquier
THE REALITY OF CURRENT CLINICAL PRACTICE
It is estimated that about 50% of the people with a cognitive disorder receive
a diagnosis.11–13The relatives consider than more than 2 years elapse between
the first consultation justified by the symptoms and the disclosure of the diag-
nosis.14The guidelines are well known to the professionals. Nevertheless, about
50% of the clinicians aware of a diagnosis choose not to transmit the informa-
tion.12,15The guidelines are based on a principle of autonomy and of the right to
know, whereas the disclosure situation seems to be more complex (Table 1),
a source of ethical conflicts16that the clinician has to resolve on a daily basis10:
How can such news be broken without making the person more fragile? How
can the patient’s autonomy be respected while integrating the entourage in the
Pros and Cons of the Diagnosis and Disclosure
A unique opportunity for the patients:
? To give meaning to their symptoms
? To be informed of their situation
? To accept the treatment
? To seek suitable help for their needs
? To anticipate the needs to come
? To consider inclusion in clinical research
? To anticipate the future by giving their
own directives about the care to imple-
ment when the alteration of judgment and
autonomy may not allow for it any longer
The diagnosis enables caregivers
? To take the patient’s experience better into
? To give answers to the questions and to the
doubts brought about by the symptoms
? To become aware of the real problem with
which the patient is confronted
? To obtain information on the disease (its
causes, its evolution, the treatments, etc.)
? To define first objectives
? To participate in the treatment decision
? To prepare the future on the social and
? When behavior disorders are present, the
entourage ascribes more easily these
disorders to disease and does not question
the patient himself so much
? To behave appropriately
The diagnosis is a gateway for orienting the
clinical practices and the organization of the
daily life on issues as diverse as driving a car,
the decision-making process, the quality of
life, or the end of life. The disclosure enables
to improve the quality of life of the patients
and of their relatives.
As regards diagnosis at an early stage, the
symptoms may be too subtle to attract
clinical attention. A diagnosis will suddenly
change the status of the patients and the
other people’s opinion.
The limited duration of the consultations
may partially explain that cognitive
disorders escape clinical investigation, and
even when such disorders are suspected, it
would be necessary to organize a follow-
up so as to appreciate the evolution
In such a case, the clinician considers that the
knowledge of a diagnosis is really useful,
especially if it may materialize with:
? An appropriate way of the caregiver and
the relatives to react
? A therapeutic action
? Coordinated home care
? Or even that it does not prove deleterious
to the patient.
The general physicians mention several
reasons for lack of diagnosis, especially:
? The risk of communicating an erroneous
? The feeling of uncertainty
? The feeling that the patients would rather
? The feeling that the caregivers do not
always wish the patient to be informed
? The feeling that the patients could not
take in such bad news
? The difficulty to communicate a painful
diagnosis and the associated risk of nega-
tive emotional reaction
? The increase in suicidal risk
Emotions and Early AD Diagnosis
EARLY DIAGNOSIS ISSUES
AD diagnosis cannot be communicated with absolute certainty, some differential diag-
nosis being kept in mind (including other causes of dementia). Even if improvements
enable to consider a wide range of possible diagnoses among which one is AD, the
criteria have still not been fully incorporated into practices and are sometimes difficult
to use outside a specialized consultation, which may strengthen the feeling of uncer-
tainty among practitioners.17Nevertheless, the clinician is responsible for giving infor-
mation adapted to the patients on their situation. Thus, information is not imperatively
a diagnosis: the physician may inform of a suspected diagnosis, explain the additional
tests supposedly needed to remove this suspicion, and integrate the degree of uncer-
tainty of the various options. The last of the 3 points is particularly important because
the way the relatives understand uncertainty in the cause of the symptom is condi-
tioned by their beliefs on the origin of the cognitive disorders.18Thus, the more uncer-
tainthe diagnosis,the moreit isjustifiedto takeintoaccount thepatients’feeling about
their situation, the understanding of the relatives to introduce a diagnostic hypothesis,
is a delicate exercise, which rests on in-depth knowledge of the patient and which
takes some time. This situation is potentially uncomfortable because certain patients
expect from their physician straightforward information and will not be satisfied, may
express their discontent, and seek a second medical opinion.
The relevance of informing the patient of a diagnosis in the absence of available cura-
tive treatment is sometimes questioned. The patients may be astonished or rebel
against the news of their disease, and the physicians experience a difficult situation
of helplessness, unable to cure. However, even if it does not lead to a curative treat-
ment, the diagnosis is an obligatory step for introducing several aspects (Box 1). The
topics to address during the months following the disclosure are numerous: making
financial and patrimonial management arrangements, anticipating the tutorship condi-
tions and procedures, anticipating the conditions under which daily life may become
restricted (driving a car, for example), using family and professional caregivers, desig-
nating trusted people for making decisions, writing advance directives, indicating
one’s position regarding participation in clinical trials and research, and seeking alter-
natives to home support and place to live, among other issues.
None of these issues can be addressed easily, and some probably go beyond the
medical sphere and the scope of the physician. Nevertheless, not communicating
the diagnosis at an early stage compromises the opportunity of the patient of being
Why enabling anticipation?
1. The diagnosis is a trigger, an activator of the network, both in the family and at work.
2. The diagnosis enables to offer a range of propositions among the medication treatments of
specific symptoms consecutive to AD and the behavioral interventions.
3. The diagnosis is a door opened to the future: once it has been set, it is possible to anticipate
the problems likely to crop up and hence to implement suitable strategies.
4. The earlier the diagnosis, the more is the patient involved in this reflection and the broader
the discussion because the different parties will have had time for embracing the diagnosis.
Antoine & Pasquier
fully involved in these decisions.6The observation is the same for the caregivers who
report on a lack of support and information, although they acknowledge that they are
not psychologically prepared to assume the caregiving role.19Early information
increases the opportunity for the entourage to be able to take up the looming chal-
lenges. For the families, the diagnosis and its disclosure are helpful in implementing
a treatment but are also factors in favor of the patients well-being. When questioned
a posteriori, the families declare that they had rather known at an early stage to better
react when the first difficulties appeared.20
Adjusting to the Patient Awareness of the Disorder
AD is characterized by cognitive disorders that may impair patients’ understanding of
their situation and their awareness of the existence and the extent of their disorders,
also called anosognosia,21,22and this is particularly important because effective care
for patients with AD and their relatives is related to an understanding of the extent of
the unawareness displayed by the patient.23In the case of an early diagnosis, it may
happen that insight alteration isitself an early symptom, but most often, the awareness
of the disorder will be relatively preserved. Prior assessment of the patient’s degree of
insight would therefore be appropriate, even if it is a difficult exercise in the absence of
a guide for clinical insight assessment during an interview. The physician should adopt
a clear and sustainable position in the triad composed of patient, relative, and physi-
cian in the long run (Box 2).
The patient like the relative may seek an alliance with the physician so as to get the
upper hand in growing conflicts crystallized around the reorganization of daily life. The
physician plays a unique role in these triangulation situations, which are tricky to
handle and provide sources of conflicts involving long-term management of
Do Not Deprive the Patient of a Right One Would Wish to Enjoy
The great majority of people without cognitive alteration, including the oldest, predom-
inantly state that they prefer to be communicated a possible future diagnosis rather
than being held in ignorance,24,25and the same is true for patients with memory
complaints attending a memory consultation.26Similarly, the caregivers of patients
with dementia state that they would like to be informed for themselves of such a diag-
nosis.27,28This preference is in agreement with the general principle of autonomy on
which is based the main ethical guidelines.17A posteriori, more than three-quarters of
Adjusting to the patient awareness of the disorder
When insight is preserved:
The patient is able to understand the ins and outs of the situation or at least to benefit from
a disclosure in a better way to be able to gradually cope with that bad news.
When insight is strongly altered:
It would be appropriate not to give up disclosing and adapting the message to what can be
The necessity of reiterating the transmission of information and the exchange during the
following consultations should then be anticipated, taking into account the daily difficulties of
the relatives mobilized by a surveillance, which the patient, for lack of understanding, may
wish to escape.
Emotions and Early AD Diagnosis
the relatives estimate the benefits of the diagnosis as quite important.29Only 6%
consider that it would have been easier not to know. How can it then be explained
that the patient’s entourage is more often informed than the patient himself30and
therefore that the guidelines that recommend giving the priority to the patient’s pref-
erences are not adhered to? The caregivers do not always wish the patient to be
informed.31The paradox thus consists in that the caregivers wish something for them-
selves of which they prefer to deprive their own sick person. What is the purpose of
dissimulating the diagnosis? For the relatives and the physicians,32the diagnostic
disclosure is a situation with a risk of negative psychological reactions from the
patient. This fear, and the will to protect the patient, may partially account for the resis-
tances to the disclosure.
The Moral Pain of the Disclosure Should Not be Confused with the Suicidal Risk
Regardless of the quality of the diagnostic disclosure, it is still a disclosure of bad
news, and as such, it might cause a negative emotional reaction. This reaction will
be difficult to manage. The relatives already have to manage their own reaction and
may not always feel able to cope with the patient’s distress. The patient will experi-
ence negative feelings during the 3 months after the disclosure, in particular the
fear of representing a burden for the spouse and the feeling of losing one’s
autonomy.33If this type of feeling is morally painful, its expression testifies to the inte-
gration of the diagnosis and to the patients’ capacity to verbalize their feelings. In
parallel, the patient will take part in the early stage of the requests for help. If the
felt and expressed distress is a probable consequence of the diagnostic disclosure,
the suicidal risk must be taken into account and constitutes one of the arguments
opposed to the disclosure,34in particular at an early stage. The suicide cases of
people with AD concern patients who were at the beginning stage of the disease
and whose awareness of disorders was high.35–37However, it has not been possible
to establish a link between the disclosure alone and an increase in the suicidal risk.17
Most of the studies are retrospective and conducted in patients with a depressive
episode, which may on its own account for the suicidal risk, independent of the disclo-
sure of AD,38,39and the combination of other pathologic conditions such as cerebro-
vascular lesions or Lewy bodies may play a role.40The elderly people without
cognitive alteration do not consider suicide as an option should they have to cope
with a dementia diagnosis disclosure.24The prevalence of suicidal thoughts in people
with dementia remains low30and comparable to that of the elderly people as a whole.
The severity of depression before and after a disclosure did not differ in patients and
their entourage, although more than two-thirds of the patients were at an early stage
of the disease.41At the time of the disclosure, patients may first express relief that
their cognitive complaints are explained and taken seriously and even express their
gratitude to the specialist who confirmed the diagnosis they suspected. Conversely,
the absence of diagnosis may even increase the suicidal risk.42,43The patients
most interested in the diagnosis are the youngest and those reporting depressive
Developing Skills for Managing Complex Communications
The clinicians who report the greatest difficulties in initiating a diagnostic workup are
those who are the most reluctant to communicate openly the diagnosis.45,46The
disclosure of bad news is defined as a piece of information that is going to change
radically and negatively the idea the patients have of their future.47The physician is
the carrier of bad news and the witness of its impact on the patients and their entou-
rage. The disclosure of the diagnosis of AD is a communication situation considered
Antoine & Pasquier
as one of the most difficult and stressful in the relationship between the physician and
the person with dementia.45,48The physician is invested as the holder of the truth,
whereas the reliability of the medical diagnosis is not absolute, the information
received by the patient remains abstract, the information is integrated by echoing
the stigmatizing beliefs associated with the word Alzheimer, and the expected
concrete information (what the patient will become in the next months) is rather uncer-
tain. Besides, the aim of the physicians, at the end of the announcement, is to mobilize
the patients so that they can keep hope and face the disease. On the emotional level,
the practitioners may fear the intense, unpredictable, and uncontrollable reactions of
the patient and especially of the relative, to which they may feel unprepared.47,49
Finally, the clinicians experience difficulties in finding balance between empathy, the
peculiar clinical relationship, and suppressing their own emotions.47,49
The Factors of an Optimal Early Disclosure
Several guidelines or reviews guide the diagnosis disclosure process. In the medical
field, Buckmann has suggested 6 stages for breaking bad news47enabling to diffuse
these practices, especially in oncology. These stages have since been transposed to
meet the particularities of AD.20,50The diagnostic process, like the disclosure itself,
has atime frame, which derives from the consultation andworkup delay. This duration,
if it should not be too long, nonetheless permits the patients to progress in their rela-
tion with the disease and to diminish the brutality of the disclosure situation. Conse-
quently, the approach around the disclosure should begin when the clinician has
started the diagnostic process. The disclosure alone concludes the diagnostic
process and ensures transition toward the implementation of the treatment and the
follow-up. This disclosure is made by the specialist and relayed by the general prac-
titioner. All at once, complying with the temporality and providing a quality link
between the general practitioner and specialist are significant components.
Accompanying the Patients and Their Relatives
Well before a diagnosis can be established, it would be appropriate to know what the
patients know and what are their knowledge and thoughts regarding both their current
symptoms and their possible causes, among which is AD. Besides, what they wish to
know and under what circumstances should be clear, in private or with their entou-
rage. This allows to correct erroneous beliefs and to personalize the disclosure and
the scheme to be implemented according to the patients’ and their relatives’ prefer-
ences. These interactions will enable to assess whether the people present during
the disclosure will better benefit from direct than a softer approach.27Particular atten-
tion is paid to the ethnic, cultural, or racial differences that might influence the patients
and their family understanding and preferences concerning the disclosure of the diag-
nosis.51The tests to come are generally explained in the perspective of a distinction
between normal aging and a brain disease or between several diseases. The results
of the tests are explained as they arrive, as the upcoming disclosure consultation is
prepared, and the disclosure process is gradual over several visits.
The Disclosure Consultation
The relatives often fear the impact of such disclosure (Box 3) and of the word
Alzheimer on the patient. However, the use of a less accurate word could confuse
the patient and delay the processes of facing the reality and request for help with
the dedicated services. The physicians are focused on the feelings of their interlocu-
tors, their silences, and their solicitations, favoring the expression ofthese feelings and
the emergence of the first questions.
Emotions and Early AD Diagnosis
In the vast majority of cases, the disclosure is made to 2 persons: the patient and
a caregiver. This process is a double disclosure, and the physician is hence just as
attentive to the reactions of the patient as to those of the relative, seeking the partic-
ipation of both. The physicians should expect a certain passivity of their interlocutors
and should understand it as a form of emotional anesthesia rather than the translation
of an acceptance of the disease. Time availability and empathy are mandatory. Other
families will express their shock, their embarrassment of not having known about the
problem at an earlier stage, or the anger of not having been heard. Cognitive focusing
on the meaning of the diagnosis and its personal implications is such, as the other
pieces of information transmitted, even heard, might not be taken in. A portion of
the dissatisfaction reported by the families further to the disclosure probably results
from the state of stupor just after the physician broke the news with dreaded words.20
The Consultations After the Disclosure
In the immediate aftermath of the disclosure, according to the “rule of threes,”52other
consultations will allow to make sure that the information transmitted has been inte-
grated and to address the evolution of the disease and the management of the
possible crises. The presence of several members of the family advantageously
Guidelines for the disclosure consultation
1. The specialist performs the disclosure and starts with a simple and brief reminder of the
consultation framework, so that the issues of the situation are clear and the patient is
not flooded with information.
2. Regardless of the people present, the first questions are asked to the patients to show
them who the main interlocutor is.
3. The diagnosis is given in clear and concise words, without an overuse of technical words
and without any ambiguity.
4. The diagnosis must be simple and should not be too segmented.
5. It is likely that up to that stage, the exchanges with the physician were centered on the
memory (or cognitive) problems. It is generally more appropriate once the diagnosis has
been known to talk about Alzheimer disease.
6. The emotional load is such that the goal of the consultation should be focused on the
transmission and the reception of this main piece of information.
7. The relatives report the need for a significant time for discussing the diagnosis and its
implications, whereas this type of scheme is associated with the degree of satisfaction of
the triadic relation (patient-physician-caregiver).
8. The rest of the consultation will enable to introduce other information, which should
preferably be repeated remotely.
9. The physician explains the results of the medical tests, the immediate consequences of the
10. The end of the consultation is centered on the intact capacities, the short-term prognosis,
the possible introduction of a treatment, and of the follow-up with a first concrete
11. In agreement with the patient, the general practitioner is informed by mail, if possible, by
telephone, in the presence of the patient so that the words used are shared by everyone
and the relaying process is strengthened.
Data from Refs.17,20,50
Antoine & Pasquier
transmits the information simultaneously to everyone and to leave everyone the possi-
bility of asking questions on the disease and the services.20At a later stage, the visits
will concern the use of professional helps and support groups.
Early-onset dementia corresponds to dementia occurring before the age of 65 years.53
Some would use the expression young-onset dementia when the disease occurred
before the age of 45 years,54but both designations are confused most often.
Dementia has long been closely associated with elderly or old people, and research
has naturally focused on these age groups.55Studies on early-onset dementia remain
scarce compared to those performed on older patients with dementia.56Better knowl-
edge and dementia screening tools revealed a higher number of AD cases than ex-
pected in younger subjects, which raises the issue of their social recognition, of
their clinical management, and of the necessity to develop research.
Dementia in younger subjects is associated with a wide variety of medical situa-
tions: AD, frontotemporal lobar degeneration (FTLD), focal atrophies, vascular
dementia, dementia with Lewy body, and so forth. The most common diagnoses
are AD and FTLD, and then comes vascular dementia.55,57–59
Early-onset dementia is poorly known, may present with atypical features, and is
consequently prone to frequent diagnosis difficulties.60More than 70% of the families
report problems associated with the diagnosis.61The delay before the diagnosis is
long,59,62longer than in late-onset dementia63,64after an average of 3 clinician opin-
ions and 3.5 years.61In one-third to half of the cases, the diagnosis remains uncertain
and sometimes even wrong.65The multiplicity of possible causes of early-onset
dementia, the atypical presentation of focal AD more frequently in early than in late
cases, as well as the prominence of the neuropsychiatric symptoms make the diag-
nosis approach more complex.60The diagnosis is especially difficult in patients with
a psychiatric history, cognitive disability or retardation, or social deprivation. All these
difficulties increase the delay between the first symptoms and the diagnosis. Owing to
the unenlightened representations regarding dementia, it is practically impossible for
young patients and their entourage to consider that possibility, contributing to the
consultation delay with the most suitable professionals. Moreover, the general practi-
tioners, consulted as a first intent, are themselves less inclined to make such a diag-
nostic hypothesis for a younger patient. The first symptoms alerting the patient are
often attributed to a depressive episode, a chronic stress, a professional burnout, or
menopause-related changes leading to as many diagnostic errors.66The psycholog-
ical impact of the diagnosis is especially important67because of the surprise of being
afflicted by a disease perceived as specific to old age and the perspective of the loom-
Emotional Implications of Early Alzheimer Disease
The patients may be parents of children or of teenagers and have elderly parents
themselves, in a situation of more or less important dependence. These patients often
live in a conjugal relationship, with the disease upsetting the couple dynamic. The
caregivers, often the spouse, confronted with a disease, which normally affects the
elderly or very old people, may find themselves destitute or feel excluded, stigmatized,
or socially isolated, and all this is more so in the absence of help schemes designed for
them.68,69The onset of dementia is systematically associated with a psychological
and emotional distress of the persons affected as well as of their entourage,56in
particular in the case of young patients. These patients experience a loss of autonomy
Emotions and Early AD Diagnosis
because they are not able anymore to perform the daily tasks. This increasing depen-
dence implies amodification of the relationships with the spouse and the close andthe
distant family members, sometimes leading to reversal of the roles, with the children
becoming the caregivers of their own parent, especially deleterious in very young
adults. Moreover, if the loss of a job that one cannot take on any longer has a far-
reaching financial impact, the consequences of this loss go beyond, affecting self-
esteem and a whole variety of values.53
Psychosocial Implications of Early Alzheimer Disease
From a financial viewpoint, it seems that the cost directly associated with the disease
is at least equivalent to that of later forms. However, in the case of young patients, the
families have to manage the costs inherent to the disease and to informal caregiving
while supporting the decrease or the loss of income. Early-onset dementia indeed
affects active people whose wage represents all or in part the financial resources of
the family. Consequently, the disease challenges the financial security of the family,
which is not so often the case in late-onset dementia. In numerous countries, the situ-
ation of these families is financially critical because early-onset dementia may not be
taken into consideration by the handicap assistance systems or by the elderly people
Psychological Implications of Early Alzheimer Disease for the Caregivers
A few investigations concerned the impact of early-onset dementia on the rela-
tives.61,68,69These studies report that these caregivers are men as well as women59
and are rather young,68most often in their fifties. The physical and emotional conse-
quences of being a caregiver, already vastly documented regarding the families of
elderly patients with AD, are also referred to by these studies, so that it is possible
to compare the cases when the patient is older versus young. Some work has estab-
lished, independent of the form of dementia, that the fact of being a young patient as
well as a young caregiver is associated with high levels of burden.68,70In the case of
early-onset dementia, the so-called burden measures are higher,68and two-thirds of
the caregivers assess their level of well-being as low.59The intensity of distress re-
ported by these studies was associated with the duration of the caregiving situation
and by the lack of professional and informal supports for these families.71These inves-
tigators also assume that the lack of preparation of the families confronted with
a disease, which is a priori so unlikely, would represent an additional distress factor.
Several studies stressed the prominence of the emotional consequences of the diag-
nosis process and of the disclosure for the young patients and their family. Results
emphasize the need for services centered on the person, for early identification and
early diagnosis.72Early dementia thoroughly disturbs the individual’s existence,
requiring adaptive responses for maintaining their identity and quality of life.73
Genetics explains certain forms of early dementia.74As gene mutations identified by
predictive medicine and tests for screening are growing, although all the genes are
not known and their impact not always characterized, difficulties and ethical issues
can be anticipated around this practice for relatives at risk, whether they are carriers
of the mutation or not.75
Studies in genetics have enabled to identify genes whose mutation or polymorphisms
are considered as cause or susceptibility factors of AD. Genetic susceptibility testing
is becoming a major clinical and ethical issue,76especially in asymptomatic people.
Antoine & Pasquier
The first studies on the psychological consequences of the assessment of the genetic
risk of AD and of its disclosure show an emotional distress associated with the bad
news77without increased anxiety78but, in some patients, an increase in depression
and general distress measures.79These studies enhance the benefits of assessing
individuals’ illness beliefs such as perceived risk and concern about developing the
disease before, and after providing interventions that address these beliefs to facilitate
test recipients’ coping. Availability of preventive interventions could change the
psychological consequence or genetic susceptibility testing.
Preliminary studies in healthy 50% risk relatives of patients with autosomal domi-
nant dementias involved in a multidisciplinary protocol after Huntington disease coun-
seling guidelines80did not show negative emotional reactions; no patient would
recommend against performing such a diagnostic process to individuals willing to
know their genetic status.81It was concluded that the emotional reactions were
similar, although the diseases, their phenotypes, and mutations were different.82
However, the attitudes change with increased knowledge of the disease.83
The genetic consultation supposedly favors enlightened decision making via prep-
aration and education work.84Furthermore, this consultation is a unique accompani-
ment framework regarding the emotional and social implications associated with
screening, taking into account the multiple existential dimensions concerned by
genetic issues, the screening process itself, and the results. In AD, the practices
essentially derive from the experience acquired with Huntington disease.85Four major
axes of consultation are identified on the psychological level86: (1) the motivational
factors that led to seek or accept screening, (2) the level of information regarding
the genetic and pathologic aspects at play, (3) the level of emotional and cognitive
preparation at the disclosure of the result, and (4) the level of anticipation regarding
the future implications of the result (Box 4).
Throughout these steps, the exchanges are based on the intellectual and emotional
capacities of the persons considered as integral part of a family and social back-
ground beyond their grasp.
PERSPECTIVES AND SUMMARY
It clearly seems that the current diagnosis and disclosure practices do not enable
timely access to information and advice, which are mandatory for the optimum adjust-
ment of individuals. The literature draws up an inventory of the deleterious conse-
quences of this situation on the social, psychological, and emotional levels. This
statement calls for a general reflection and perspectives in terms of research, training,
and modification of practices. It should be stressed that identifying the negative
consequences of the late diagnosis could not be strictly confused with the identifica-
tion of the benefits of a timely diagnosis. Any modification aiming to correct a system
could be beneficial, but should be verified, because it may introduce unexpected
negative aspects to be assessed qualitatively and quantitatively. Can an earlier diag-
nosis really promote better acceptance of the disease and of its management? Will it
enable relatives to better understand by what the patient is confronted? Will it promote
real anticipation of the challenges to take on? May an early diagnosis not bring about
inappropriate reactions in the entourage or in the patient? Is the suicidal risk higher in
the context of an early diagnosis?
SUGGESTED RESEARCH AND TRAINING NEEDS
More than ever before, it is important to dedicate research in medical, human, and
Emotions and Early AD Diagnosis
by the growing scientific knowledge, the new diagnostic criteria, and the guidelines.
test, and spread training on the principles of a practice integrating uncertainty, insight,
psychological distress, and communication in a situation of despair to be oriented
toward a constructive anticipation dynamic. A significant research axis lies in the anal-
ysis of the interactions between the physician and the patient/relative dyad, especially
the issue of emotional regulation of the actors present during the critical disclosure
situation. As regards the information, it is important to promote interventions among
professionals, especially general practitioners, and to facilitate access to information
on the existing help networks toward the people affected by the disease. It seems
important to stimulate the local professional networks, in connection with patients’
edge and changes in practices, by enhancing in parallel the communication between
the specialist and the general practitioner. Indeed, if the network of help seems to
develop for the patients, the physician can feel more isolated to face the challenges.
Regarding the relatives/caregivers, the difficulties to which they are confronted and
the importance of their caregiving role are today largely recognized. Their distress
and needs are identified, and the aids and facilities for relatives are improving. Never-
theless, little work bears on a portion of the disclosure of the diagnosis to the care-
givers independently from the patient. The idea is not to ignore the patients and to
make decisions without involving them but to consider what the diagnosis means for
the relative and to promote a debriefing time intended for the caregiver. In early-
onset dementia in particular, the relatives are highly prone to distress. With the
Four psychological axes of genetic counseling
a. The aim is to assess the person’s knowledge and understanding with regard to genetic
screening and the links between genetics and associated diseases, as well as the meaning
of their approach. This aim implies asking questions about the personal or family experience
of the disease and of genetic screening and assessing motivation or on the contrary
reluctance to tests. The discussion integrates the vision of the symptoms, of the alterations,
of the impact on the entourage, and of the needs to come, enabling to assess the
expectations and the level of understanding of the genetic approach. Thus, the persons will
not only benefit from suitable medical information on screening but also be led to consider
personal, family, and social questions raised by the result.
b. One of the major issues of genetic consultation is learning to cope with the different steps:
the test properly speaking, the expectation, the disclosure of the result, and then the future,
in particular, on the case of presymptomatic testing in which the first symptoms will only
appear much later. It is important to promote a preparation attitude by openly considering
how to manage these different steps, the possible reactions in the face of a positive or
negative result. The clinician anticipates the psychological distress during the disclosure and
the necessary help strategies.
c. When the person seems to be in distress, in particular during the disclosure, several themes
can be involved: the feeling of uncertainty, the anticipatory anxiety, and the depressive
effects. The clinician’s knowledge in terms of stress management techniques, therapeutic
educational strategies, behavioral and cognitive interventions, as well as professional and
associative help networks provides indispensable assets.
d. When it comes to genetic screening, it is important to contemplate the immediate and long-
term future implied by the result. If the person is ready to engage in that exchange, the
implications of his or her genetic status are discussed while taking into account the family
and the financial and professional perspectives on the one hand and globally the disruption
of the life choices and the existential priorities on the other hand.
Antoine & Pasquier
patients, they are confronted with the paradox of a diagnosis, which is all the more
delayed when the onset of dementia is early. The issue, at the core of current research,
is twofold: to reduce the diagnostic wandering and the resulting suffering and to
promote early management, adapted to the specific psychological needs of the fami-
lies. In genetic medicine, temporality is inverted: the diagnosis does not arrive at a late
stage; it is the disclosure of a susceptibility, which occurs early, without being certain
that the persons will effectively be ill, which will modify the vision that the persons have
about their own existence. The research advances on the disease will probably move
the time of diagnosis forward. The predictive validity of the indicators based on cogni-
tive decline can be improved. Besides, biomarkers reflecting the underlying neuropa-
thology (notably imaging, cerebrospinal fluid) take part in this evolution. The ability of
these biomarkers to predict the conversion of people with mild cognitive impairments
to dementia is under study.87It is important to develop studies on the psychological
better understanding of the experience of people early engaged in an approach sus-
pecting neurodegenerative dementia, their understanding of the issues, and the
psychological and family consequences of the result, whether they accept or not the
hypothesis of a conversion toward the disease. These would be valuable preliminary
data if the evolution of the approach, of a current late diagnosis, does not lead to
a timely diagnosis, based on the optimum adequacy of the care system to the needs
expressed by the patients, but to a very early diagnosis based on the underlying neuro-
pathology in presymptomatic, let alone asymptomatic people. This perspective would
involve totally reconsidering the diagnostic approach to integrate radically different
psychological and emotional issues.
This work has been developed and supported through the LABEX (excellence labo-
ratory, program investment for the future) DISTALZ (Development of Innovative Strat-
egies for a Transdisciplinary approach to Alzheimer disease).
1. McKhann G, Drachman D, Folstein M, et al. Clinical diagnosis of Alzheimer’s
disease: report of the NINCDS-ADRDA Work Group under the auspices of the
Department of Health and Human Services Task Force on Alzheimer’s disease.
2. American Psychiatric Association (APA). Diagnostic and statistical manual of
mental disorders (DSM-IV). 4th edition. Washington, DC: American Psychiatric
due to Alzheimer’s disease: recommendations from the National Institute on Aging-
Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s
disease. Alzheimers Dement 2011;7(3):270–9.
4. Dubois B, Feldman HH, Jacova C, et al. Revising the definition of Alzheimer’s
disease: a new lexicon. Lancet Neurol 2010;9(11):1118–27.
5. Alzheimer’s Disease International. World Alzheimer Report 2011. Available at:
http://www.alz.co.uk/research/WorldAlzheimerReport2011.pdf. Accessed January
6. Hamann J, Bronner K, Margull J, et al. Patient participation in medical and social
decisions in Alzheimer’s disease. J Am Geriatr Soc 2011;59(11):2045–52.
Emotions and Early AD Diagnosis
7. De Lepeleire J, Wind AW, Iliffe S, et al. The primary care diagnosis of dementia in
Europe: an analysis using multidisciplinary, multinational expert groups. Aging
Ment Health 2008;12(5):568–76.
8. Alzheimer’s Association. Increasing disclosure of dementia diagnosis. In brief for
healthcare professionals. Alzheimer’s Association; 2012. Available at: http://www.
alz.org/documents_custom/inbrief_disclosure.pdf. Accessed January 24, 2013.
9. Knopman DS, DeKosky ST, Cummings JL, et al. Practice parameter: diagnosis of
dementia (an evidence-based review). Report of the Quality Standards Subcom-
mittee of the American Academy of Neurology. Neurology 2001;56(9):1143–53.
10. Marzanski M. Would you like to know what is wrong with you? On telling the truth
to patients with dementia. J Med Ethics 2000;26(2):108–13.
in three managed care systems. J Gerontol A Biol Sci Med Sci 2004;59(6):M621–6.
12. Bamford C, Lamont S, Eccles M, et al. Disclosing a diagnosis of dementia:
a systematic review. Int J Geriatr Psychiatry 2004;19(2):151–69.
13. Gallez C. Rapport sur la maladie d’Alzheimer et les maladies apparente ´es.
Rapport de l’Office Parlementaire d’Evaluation des Politiques de Sante ´ (OPEPS)
2005. Available at: http://www.assemblee-nationale.fr/12/pdf/rap-off/i2454.pdf.
Accessed January 24, 2013.
14. Gibson AK, Anderson KA. Difficult diagnoses: family caregivers’ experiences
during and following the diagnostic process for dementia. Am J Alzheimers Dis
Other Demen 2011;26(3):212–7.
15. Carpenter B, Dave J. Disclosing a dementia diagnosis: a review of opinion and
practice, and a proposed research agenda. Gerontologist 2004;44(2):149–58.
16. Maguire CP. Telling the diagnosis of dementia: consider each patient individually.
Int Psychogeriatr 2002;14(2):123–6.
17. Fisk JD, Beattie BL, Donnelly M, et al. Disclosure of the diagnosis of dementia.
Alzheimers Dement 2007;3(4):404–10.
18. Smith AP, Beattie BL. Disclosing a diagnosis of Alzheimer’s disease: patient and
family experiences. Can J Neurol Sci 2001;28(Suppl 1):S67–71.
19. Ducharme F, Levesque L, Lachance L, et al. Challenges associated with transi-
tion to caregiver role following diagnostic disclosure of Alzheimer disease:
a descriptive study. Int J Nurs Stud 2011;48(9):1109–19.
20. Boise L, Connell CM. Diagnosing dementia - What to tell the patient and family.
Geriatrics & Aging 2005;8(5):48–51.
21. Kotler-Cope S, Camp CJ. Anosognosia in Alzheimer disease. Alzheimer Dis
Assoc Disord 1995;9(1):52–6.
22. Antoine C, Antoine P, Guermonprez P, et al. Awareness of deficits and anosogno-
sia in Alzheimer’s disease. Ence ´phale 2004;30(6):570–7.
23. Clare L, Markova I, Verhey F, et al. Awareness in dementia: a review of assess-
ment methods and measures. Aging Ment Health 2005;9(5):394–413.
the diagnosis of Alzheimer’s disease. J Geriatr Psychiatry Neurol 2003;16(2):90–3.
25. INPES. Perceptions, attitudes and knowledges among the general public on the
subject of Alzheimer’s disease. 2008. Available at: http://alzheimer.inpes.fr/pdf/
en/main-results.pdf. Accessed January 24, 2013.
26. Elson P. Do older adults presenting with memory complaints wish to be told if later
diagnosed with Alzheimer’s disease? Int J Geriatr Psychiatry 2006;21(5):419–25.
27. Connell CM, Boise L, Stuckey JC, et al. Attitudes toward the diagnosis and disclo-
sure of dementia among family caregivers and primary care physicians. Geron-
Antoine & Pasquier
28. Pinner G, Bouman WP. To tell or not to tell: on disclosing the diagnosis of
dementia. Int Psychogeriatr 2002;14(2):127–37.
29. Connell CM, Roberts JS, McLaughlin SJ, et al. Black and white adult family
members’ attitudes toward a dementia diagnosis. J Am Geriatr Soc 2009;57(9):
30. Holroyd S, Turnbull Q, Wolf AM. What are patients and their families told about the
diagnosis of dementia? Results of a family survey. Int J Geriatr Psychiatry 2002;
31. Fahy M, Wald C, Walker Z, et al. Secrets and lies: the dilemma of disclosing the
diagnosis to an adult with dementia. Age Ageing 2003;32(4):439–41.
32. De Lepeleire J, Buntinx F, Aertgeerts B. Disclosing the diagnosis of dementia: the
performance of Flemish general practitioners. Int Psychogeriatr 2004;16(4):
33. Vernooij-Dassen M, Derksen E, Scheltens P, et al. Receiving a diagnosis of
dementia. The experience over time. Dementia 2006;5(3):397–410.
34. Kissel EC, Carpenter BD. It’s all in the details: physician variability in disclosing
a dementia diagnosis. Aging Ment Health 2007;11(3):273–80.
35. Ferris SH, Hofeldt GT, Carbone G, et al. Suicide in two patients with a diagnosis of
probable Alzheimer disease. Alzheimer Dis Assoc Disord 1999;13(2):88–90.
36. Lim WS, Rubin EH, Coats M, et al. Early-stage Alzheimer disease represents
increased suicidal risk in relation to later stages. Alzheimer Dis Assoc Disord
38. Draper B, Peisah C, Snowdon J, et al. Early dementia diagnosis and the risk of
suicide and euthanasia. Alzheimers Dement 2010;6(1):75–82.
39. Seyfried LS, Kales HC, Ignacio RV, et al. Predictors of suicide in patients with
dementia. Alzheimers Dement 2011;7(6):567–73.
40. Peisah C, Snowdon J, Kril J, et al. Clinicopathological findings of suicide in the
elderly: three cases. Suicide Life Threat Behav 2007;37(6):648–58.
41. Carpenter BD, Xiong C, Porensky EK, et al. Reaction to a dementia diagnosis in
individuals with Alzheimer’s disease and mild cognitive impairment. J Am Geriatr
42. Fisk JD, Beattie BL, Donnelly M. Ethical considerations for decision making for
treatment and research participation. Alzheimers Dement 2007;3(4):411–7.
43. Rubio A, Vestner AL, Stewart JM, et al. Suicide and Alzheimer’s pathology in the
elderly: a case-control study. Biol Psychiatry 2001;49(2):137–45.
44. Jha A, Tabet N, Orrell M. To tell or not to tell-comparison of older patients’ reaction
to their diagnosis of dementia and depression. Int J Geriatr Psychiatry 2001;
45. Turner S, Iliffe S, Downs M, et al. General practitioners’ knowledge, confidence
and attitudes in the diagnosis and management of dementia. Age Ageing
46. Cody M, Beck C, Shue VM, et al. Reported practices of primary care physicians
in the diagnosis and management of dementia. Aging Ment Health 2002;6(1):
47. Buckman R. Breaking bad news: why is it still so difficult? Br Med J (Clin Res Ed)
48. Cohen L, Baile WF, Henninger E, et al. Physiological and psychological effects of
delivering medical news using a simulated physician-patient scenario. J Behav
Emotions and Early AD Diagnosis
49. Espinosa E, Gonzalez Baron M, Zamora P, et al. Doctors also suffer when giving
bad news to cancer patients. Support Care Cancer 1996;4(1):61–3.
50. Derksen E, Vernooij-Dassen M, Gillissen F, et al. Impact of diagnostic disclosure
in dementia on patients and carers: qualitative case series analysis. Aging Ment
51. Janevic MR, Connell CM. Racial, ethnic, and cultural differences in the dementia
caregiving experience: recent findings. Gerontologist 2001;41(3):334–47.
52. Wald C, Fahy M, Walker Z, et al. What to tell dementia caregivers–the rule of
threes. Int J Geriatr Psychiatry 2003;18(4):313–7.
53. Alzheimer’s Association. Early Onset Dementia: a national challenge, a future
crisis. Washington, DC: Alzheimer’s Association; 2006. p. 68.
54. Kelley BJ, Boeve BF, Josephs KA. Young-onset dementia: demographic and etio-
logic characteristics of 235 patients. Arch Neurol 2008;65(11):1502–8.
55. Yokota O, Sasaki K, Fujisawa Y, et al. Frequency of early and late-onset demen-
tias in a Japanese memory disorders clinic. Eur J Neurol 2005;12(10):782–90.
56. Werner P, Stein-Shvachman I, Korczyn AD. Early onset dementia: clinical and
social aspects. Int Psychogeriatr 2009;21(4):631–6.
57. Harvey RJ, Skelton-Robinson M, Rossor MN. The prevalence and causes of
dementia in people under the age of 65 years. J Neurol Neurosurg Psychiatry
58. McMurtray A, Clark DG, Christine D, et al. Early-onset dementia: frequency and
causes compared to late-onset dementia. Dement Geriatr Cogn Disord 2006;
59. Williams T, Dearden AM, Cameron IH. From pillar to post - a strudy of younger
people with dementia. Psychiatr Bull 2001;25:384–7.
60. Mendez MF. The accurate diagnosis of early-onset dementia. Int J Psychiatry
61. Luscombe G, Brodaty H, Freeth S. Younger people with dementia: diagnostic
issues, effects on carers and use of services. Int J Geriatr Psychiatry 1998;
62. Lockeridge S, Simpson J. The experience of caring for a partner with young onset
dementia: how younger carer cope. Dementia 2012. [Epub ahead of print].
63. van Vliet D, de Vugt ME, Bakker C, et al. Impact of early onset dementia on care-
givers: a review. Int J Geriatr Psychiatry 2010;25(11):1091–100.
64. Bakker C, de Vugt ME, Vernooij-Dassen M, et al. Needs in early onset dementia:
a qualitative case from the NeedYD study. Am J Alzheimers Dis Other Demen
65. Bentham P, La Fontaine J. Services for younger people with dementia. Psychiatry
66. Harris PB, Keady J. Living with early onset dementia. Alzheim Care Q 2004;5:
67. Pipon-Young FE, Lee KM, Jones F, et al. I’m not all gone, I can still speak: the
experiences of younger people with dementia. An action research study.
68. Freyne A, Kidd N, Coen R, et al. Burden in carers of dementia patients: higher
levels in carers of younger sufferers. Int J Geriatr Psychiatry 1999;14(9):784–8.
69. Kaiser S, Panegyres PK. The psychosocial impact of young onset dementia on
spouses. Am J Alzheimers Dis Other Demen 2006;21(6):398–402.
70. Schneider J, Murray J, Banerjee S, et al. EUROCARE: a cross-national study of
co-resident spouse carers for people with Alzheimer’s disease: I–Factors associ-
ated with carer burden. Int J Geriatr Psychiatry 1999;14(8):651–61.
Antoine & Pasquier
71. Arai A, Matsumoto T, Ikeda M, et al. Do family caregivers perceive more difficulty Download full-text
when they look after patients with early onset dementia compared to those with
late onset dementia? Int J Geriatr Psychiatry 2007;22(12):1255–61.
72. Allen J, Oyebode JR, Allen J. Having a father with young onset dementia: the
impact on well-being of young people. Dementia 2009;8(4):455–80.
73. Kinney JM, Kart CS, Reddecliff L. ‘That’s me, the Goother’: evaluation of a program
for individuals with early-onset dementia. Dementia 2011;10(3):341–59.
disease. Cogn Behav Neurol 2007;20(3):149–56.
75. Arribas-Ayllon M. The ethics of disclosing genetic diagnosis for Alzheimer’s
disease: do we need a new paradigm? Br Med Bull 2011;100:7–21.
76. Chung WW, Chen CA, Cupples LA, et al. A new scale measuring psychologic
77. Gooding HC, Linnenbringer EL, Burack J, et al. Genetic susceptibility testing for
Alzheimer disease: motivation to obtain information and control as precursors to
coping with increased risk. Patient Educ Couns 2006;64(1–3):259–67.
78. Roberts S, Lock M, Prest J, et al. How does genetic testing affect anxiety about
developing AD? Findings from a randomized clinical trial. Neurobiol Aging 2004;
79. Ashida S, Koehly LM, Roberts JS, et al. The role of disease perceptions and
results sharing in psychological adaptation after genetic susceptibility testing:
the REVEAL Study. Eur J Hum Genet 2010;18(12):1296–301.
80. International Huntington Association and the World Federation of Neurology
Research Group on Huntington’s Chorea. Guidelines for the molecular genetics
predictive test in Huntington’s disease. J Med Genet 1994;31(7):555–9.
81. Steinbart EJ, Smith CO, Poorkaj P, et al. Impact of DNA testing for early-onset
familial Alzheimer’s disease and frontotemporal dementia. Arch Neurol 2001;
82. Molinuevo JL, Pintor L, Peri JM, et al. Emotional reactions to predictive testing in
Alzheimer’s disease and other inherited dementia. Am J Alzheimers Dis Other
83. Marcheco-Teruel B, Fuentes-Smith E. Attitudes and knowledge about genetic
testing before and after finding the disease-causing mutation among individuals
84. Biesecker BB. Goals of genetic counseling. Clin Genet 2001;60(5):323–30.
85. Burgess MM. Ethical issues in genetic testing for Alzheimer’s disease: lessons
from Huntington’s disease. Alzheimer Dis Assoc Disord 1994;8(2):71–8.
86. Kaut KP. Counseling psychology in the era of genetic testing: considerations for
practice, research and training. The Counseling Psychologist 2006;34(4):461–88.
87. Ballard C, Gauthier S, Corbett A, et al. Alzheimer’s disease. Lancet 2011;
Emotions and Early AD Diagnosis