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Indian Pediatr 2014;51: 536-538 |
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Diagnostic Questionnaire and its Validation
BIOSTATISTICIAN’S PERSPECTIVE
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Abhaya Indrayan
Former Professor & Head, Department of Biostatistics
and Medical Informatics,
University College of Medical Sciences, Delhi, India.
Email: [email protected]
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Epilepsy is a complex disease to diagnose in some cases because seizures
occur in a variety of conditions. Fever, central nervous system (CNS)
infections, head trauma or systemic illnesses can cause seizures, and
seizures also mimic breath holding spells and syncopal attacks.
Differentiation of symptomatic from epileptic seizures, and of seizures
from disturbance due to other transient neurological conditions may be
difficult [1]. Reports suggest that misdiagnosis and missed diagnosis
among pediatricians can occur in nearly one-third of cases [1,2]. In
addition to expertise, neuroimaging and electro-encephalography are
often needed to confirm or exclude the disease. Would it not be nice if
the diagnosis can be made by asking a few searching questions? No need
of any examination, no need of any investigation – just binary yes/no
type answer to a series of questions. If successful, this questionnaire
can be used in most peripheral settings. Perhaps any graduate can be
trained to elicit the right answer to these questions, and there would
be no need of any physician either. If this can be done for an intricate
disease such as epilepsy in children, the value naturally multiplies.
This is exactly what an INCLEN sponsored study [3] tried to do, that too
with somewhere near 90% success! This issue contains the details of this
study that claims 86% sensitivity, 95% specificity, 94% positive
predictivity and 88% negative predictivity of the questionnaire they
developed for diagnosis of epilepsy [3].
There have been many attempts in the past of
developing a diagnostic questionnaire. One can appreciate the prominent
role of a questionnaire for diagnosing a predominantly behavioral
disease such as anxiety disorder in adults [4] and fetal alcohol
spectrum disorders in children [5] but the attempts to diagnose
clinically-interactive conditions such as chronic obstructive pulmonary
disease through a short questionnaire was not particularly successful
[6]. Thus there is a need to be extra careful in taking questionnaire
route for diagnosing such a disease.
Developing a questionnaire containing items that are
believed to have differential value for diagnosis apparently looks easy
but could actually turn out to be a tall order. First is the choice of
questions and the second is their correct framing. In the INCLEN tool
[3], Delphi method was adopted but that has not prevented discrepancies
to creep in. To a third person like me, some questions are not as
specific as I would have liked them to be in a questionnaire such as
this. For example, Q4 asks the duration between the first and the last
episode of seizure. The options for recording are ‘less than 24 hours’,
‘more than 24 hours’ and ‘not applicable’. The age group covered by this
study is 2 to 9 years; thus theoretically this gap between the first and
the last episode could be as much as 8 years when a 8½-year old child
had an episode recently and the first when the child was 6 months. The
gap of 2 days is also more than 24 hours and the gap of 5 years is also
more than 24 hours. Experts could tell how differential it is to club 2
days and 5 years together for diagnosis of epilepsy in children, and
whether the gap between last two episodes could be a more revealing
question. Similarly, Q3 asks the number of episodes the child had, and
the options are ‘one’ and ‘more than one’. In the absence of
specification of the applicable duration, they are to be presumably
counted since birth. I am not sure if that is what this question is
designed for. If the parents of a child of age 8 years who has had
episodes of seizures 5 years ago and thought of going to a clinic now,
how this questionnaire will handle this information? Some other
‘discrepancies’ of this type can be identified in this questionnaire.
In addition to the precision in framing questions in
a diagnostic questionnaire, developing an algorithm that minimizes both
false positives and false negatives can be nerve wrecking. In case of
the INCLEN tool [3], it seems from what is stated that Yes to Q10 or Q11
is enough for diagnosing epilepsy since the first condition regarding
Q2, 3, 4 and 5-9 is not necessarily required. Q10 is on frequent
episodes of ‘going blank’ or lose awareness of his/her surroundings, and
Q11 is on presence of any of (i) sudden or unexplained episodes
of falling to the ground, (ii) sudden head drop, and (iii)
sudden jerking movement with bending of body. By the way these questions
also do not specify the durations. They may have occurred 4 years ago.
Q10 and Q11 can be easily combined in to a single question and,
according to this questionnaire, positive answer to any of these items
will identify epilepsy, although they will not be sufficient to exclude
the disease. Experts will decide the validity of this assertion.
Next challenge in developing a successful
questionnaire for diagnostic purposes is its validation. Sensitivity,
specificity, positive predictivity and negative predictivity are indeed
valid measures. But sensitivity and specificity are used in
retrospective setups where the disease status is already known, and
predictivties in prospective setup where the disease status is elicited.
It is only for representative cross-sectional studies that both can be
used on the same data [7]. For any such tool, internal consistency and
external validation are also important prerequisites for its usability.
In addition, a clear distinction must be made between a screening tool
and a diagnostic tool. If the objective is to reduce the burden on the
secondary level of care, the focus clearly is on screening and not on
diagnosis.
Despite such limitations, any attempt for developing
a questionnaire-based diagnostic tool is welcome because of its wide
applicability. Few such attempts have been made in India and they need
encouragement. The tool can be subsequently modified as feedback is
received on its merits and demerits.
Funding: None; Competing interests: None
stated.
References
1. Chadwick D, Smith D. The misdiagnosis of epilepsy.
BMJ. 2002:324:495-6.
2. Uldall P, Alving J, Hansen LK, Kibaek M, Buchholt
J. The misdiagnosis of epilepsy in children admitted to a
tertiary epilepsy centre with paroxysmal events. Arch Dis Child.
2006;91:219-21.
3. Konkani R, Mishra D, Gulati S, Aneja S, Deshmukh
V, Silberberg D, et al. INCLEN diagnostic tool for epilepsy
(INDT-EPI) for primary care physicians: Development and validation.
Indian Pediatr. 2014;51:539-43.
4. Norton PJ, Robinson CM. Development and evaluation
of the anxiety disorder diagnostic questionnaire. Cogn Behav Ther.
2010;39:137-49.
5. Fitzpatrick JP, Latimer J, Ferreira M, Martiniuk
AL, Peadon E, Carter M, et al. Development of a reliable
questionnaire to assist in the diagnosis of fetal alcohol spectrum
disorders (FASD). BMC Pediatr. 2013;13:33.
6. Stanley AJ, Hasan I, Crockett AJ, van Schayck OC,
Zwar NA. Validation of the COPD Diagnostic Questionnaire in an
Australian general practice cohort: A cross-sectional study. Prim Care
Respir J. 2014;23:92-7.
7. Indrayan A. Medical Biostatistics, Third Edition, Chapman & Hall:
CRC Press, 2012.
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