RESEARCH ARTICLE

An Exploration of the Communication Patterns and Language Used Between Clinical Geneticists and Parents of Children with Dysmorphic Features Emma J. Steel,1* Jan Hodgson,1,2 Lesley Stirling,3 and Susan M. White1,2,4 1

Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia

2

Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville, Victoria, Australia School of Languages and Linguistics, The University of Melbourne, Melbourne, Victoria, Australia

3 4

Victorian Clinical Genetics Service, Royal Children’s Hospital, Parkville, Victoria, Australia

Manuscript Received: 9 January 2013; Manuscript Accepted: 5 August 2014

The present study aims to provide insight into the interactions between clinical geneticists and parents of children with dysmorphic features during syndrome assessment. Seven families attending a dysmorphology clinic for syndrome assessment consented to have their consultation recorded and transcribed verbatim. Content and discourse analyses were used to study the language and communication patterns of problematic and challenging sections of the consultations, primarily sections concerning the child’s appearance and diagnosis which were marked by dysfluency and hesitation, indicators of problematic communication. Findings revealed that the clinical geneticists used a range of communicative strategies when discussing a child’s appearance, such as comparing the child’s features with those of parents or other individuals and minimizing differences. In doing so they displayed an orientation to the “face-threatening” nature of this communicative task. While geneticists discussed the child’s appearance in an extremely sensitive manner, parents tended to describe their child’s appearance using direct and objective language. These findings provide novel insight into the complexity of syndrome assessment consultations in a dysmorphology clinic. We suggest that parents may be seeking a more open discussion of their child’s appearance, and clinician engagement with this may prove a more effective communication strategy than those currently employed, while remaining sensitive to parents’ responses to such a discussion. At the start of the consultation it is important to give parents the opportunity to voice their concerns and expectations, and to explain to parents that a diagnosis may not be reached. Ó 2014 Wiley Periodicals, Inc.

Key words: dysmorphology; children; parents; uncertainty; syndrome assessment; content analysis; discourse analysis; politeness theory

INTRODUCTION Dysmorphology is “the medical study of abnormal forms in the human and is concerned with the identification and classification of a

Ó 2014 Wiley Periodicals, Inc.

How to Cite this Article: Steel EJ, Hodgson J, Stirling L, White SM. 2014. An exploration of the communication patterns and language used between clinical geneticists and parents of children with dysmorphic features. Am J Med Genet Part A 9999:1–12.

variety of congenital malformations” [Featherstone et al., 2005, p.551]. Such atypical features are not uncommon in the general population, but a collection of dysmorphic features may be associated with a particular syndrome, most often with a genetic basis [Featherstone et al., 2005; White and Hodgson, 2011]. The dysmorphology clinic is attended by children referred for a possible syndrome diagnosis. A “syndrome” can be defined as a pattern of features and structural abnormalities that consistently occur together, and can be recognized by clinical geneticists who are doctors trained in the field of genetics. Vital to the process of syndrome diagnosis is the identification and interpretation of dysmorphic features. The assessment in a dysmorphology clinic includes a clinical geneticist focusing on what is different about the child, examining the child for dysmorphic features (“looking for clues”), matching the pattern of features in the child to known syndromic patterns and to the characteristics of other members of the family, and then discussing possible diagnoses with parents. Parents may receive news about an underlying diagnosis in their child, may be told that there appears to be an underlying diagnosis but no definite diagnosis is made at that

Conflict of interest: none.
Correspondence to: Emma J. Steel, Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia. E-mail: [email protected] Article first published online in Wiley Online Library (wileyonlinelibrary.com): 00 Month 2014 DOI 10.1002/ajmg.a.36749

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2 time, or may be told that a syndrome diagnosis is unlikely. Parental participation during dysmorphology consultations is generally encouraged and valued by clinicians [Latimer, 2007b]. The process of syndrome assessment can be challenging for both the parents and the clinician. It is well known that explanations of uncertainty about diagnosis can be difficult, especially if having a causal “label” is important to the patient or parent [Than and Flaws, 2009]. Less well researched are the inherent sensitivities, which come with raising the topic of dysmorphic features in a child, which has the potential to change the parents’ view of their child or impact negatively on the child him/herself. Research on politeness in language [Brown and Levinson, 1987] identifies certain kinds of speech that acts as inherently “facethreatening” for speakers and addressees. Following on from Goffman’s work on “face” [Goffman, 1967], Brown and Levinson identified two main kinds of “face needs” which speakers orient to in their interactions with one another. “Face” is the public selfimage which we all want to claim and protect and “face-threatening acts” are acts which by their nature run counter to the face needs of the individual—they are hence often produced with markers of politeness of particular kinds. “Negative face” refers to the individual’s need to have their freedom of action unimpeded, and will not be considered in this paper. “Positive face” refers to the desire to present an identity which has positive social value and which is accepted or approved of by others. Thus, threats to someone’s positive face include any bad news or negative evaluation concerning them, which might impact on their self-esteem or their sense of belonging to a group. Discussion of physical atypicalities in the child, and the way in which these reflect family patterns, are prototypical “face-threatening acts”, which have the potential to impact on the parents’ and child’s self-esteem and sense of belonging to a normative community. The discussion also has the potential to threaten the clinician’s positive face, as it may require them to make “impolite” remarks which would normally be negatively sanctioned in society, albeit in an institutional context where these are necessary and tolerated. While politeness theory has been used in some previous research on communication in genetic counseling [Benkendorf et al., 2001], it has not previously been applied to this aspect of the dysmorphology clinic. Little is known about how clinicians talk to parents about a child’s dysmorphic features, especially when there is uncertainty about a diagnosis. White and Hodgson [2011] give a general discussion of communicative dilemmas in raising the topic of physical differences in the child. Of the small number of papers reporting on communicating diagnostic uncertainty in a genetics setting [Brookes-Howell, 2006; Latimer, 2007a; Latimer, 2007b; Lewis et al., 2012; Lipinski et al., 2006; Madeo et al., 2012; Michie et al., 2005; Smith et al., 2000; Teas Gill and Maynard, 1995], few mention the impact of discussing dysmorphic features when searching for a genetic diagnosis. Brookes-Howell [2006] reported the way in which a parent may present a possible diagnosis by acknowledging the features in their child that make up the diagnosis. In their study, parents generally preferred to be consulted and included in the search for a diagnosis. Rather than excluding family members from the so-called “technical” and “expert” work of clinical diagnosis [Latimer, 2007b, p.99], Latimer [2007a] found that when given the opportunity, parents absorbed themselves in

AMERICAN JOURNAL OF MEDICAL GENETICS PART A the diagnostic procedure “as a space of deferral that shifts them between definition on the one hand and ambiguity on the other” (p.16). The information needs of parents with an undiagnosed child tend to be distinct and differ from those of parents whose child has received a diagnosis [Lewis et al., 2012]. The lack of a diagnosis can result in a unique vulnerability, which along with feelings of helplessness and fear of the unknown, could disrupt parental adjustment to the child’s condition [Applebaum and Firestein, 1983; Madeo et al., 2012]. This research was exploratory in nature. It aimed to investigate the communication patterns and language used between clinical geneticists and parents of children with dysmorphic features during syndrome assessment, using both content and discourse analysis to better understand what happens during these consultations. Research into this area will provide the basis for the development of better services by potentially facilitating the communication process with the families who utilize those services.

MATERIALS AND METHODS Sampling and Recruitment Ethics approval was obtained prior to data collection. Participants were recruited in 2001 through a major genetics service at a children’s hospital in Victoria, Australia. Inclusion criteria were defined as: parents of children referred to the genetics service for the first time; parents of children referred for a possible genetic diagnosis of dysmorphic features and developmental delay; one or both parents may be involved but they must actually attend the clinic to be included; English speaking. Inclusion criteria for the clinical geneticists participating in the study were defined as: consultant or fellow of the participating genetics service, not a study investigator. Eligible families were identified following referral to the genetics service. Along with their appointment letter, twenty families were sent a copy of a Participant Information Sheet in the mail, which detailed the aims of the study and explained what participating in the study would involve.

Data Collection Families that agreed to be part of the study signed a consent form prior to their appointment at the clinic. Participation involved completion of a pre-clinic questionnaire, which aimed to gauge parents’ expectations of the consultation, and audio-recording of the subsequent consultation. Clinical geneticists taking part in the project completed a post-clinic questionnaire reflecting on the process of the consultation. Findings from analysis of the questionnaires are not reported in this paper [Steel E., 2010. An exploration of the communication patterns and language used between geneticists and parents of children with dysmorphic features. MGenCouns Thesis, Melbourne, the University of Melbourne].

Data Analysis Each consultation recording was transcribed verbatim and deidentified. Table I shows the glossary of adapted transcription symbols [DuBois et al., 1993; Jefferson, 2004]. These symbols were utilized to develop detailed transcripts, which could be ana-

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TABLE I. Glossary of Transcription Symbols Symbol ( ) ((

))

[ ] $ huh (..) (  ) (0.0) : :: . , ? ¼ under ˚word˚

Use Unsure of utterance. Used when unsure if this word was heard correctly Researcher’s comments and descriptions of non-linguistic sounds in the recording Overlapping speech Slight or suppressed laughter, usually occurring within a word e.g. wor$d One syllable of laughter Pause (0.8 seconds) Pause (0.8 seconds) Pause (1.6 seconds) by tenths of a second Short prolongation of the immediately prior sound Long prolongation of the immediately prior sound Falling tone Continuing tone Strongly rising terminal intonation contour or questioning intonation One at end of a line and at the beginning of the next line indicates no time gap between the utterances or latched utterances Speaker emphasis Comparatively quieter than surrounding utterances Speech has unique voice quality

lenging if there was dysfluency, repetitive speech, overlapping speech, an apparent struggle to find appropriate language, or asymmetry in the parent/geneticist input during a discussion. Our particular focus of attention was segments of the consultations where the child’s physical features were discussed. These segments were identified and extracted based on the content analysis already described. These segments were then analyzed in detail in terms of their discourse characteristics, including whether they were initiated by parents or geneticist, had features such as dysfluency or hesitation which might indicate that the interaction was experienced as problematic, and included markers of the “stance” or attitude the speaker was taking towards the content of their contribution—in particular, what are called “epistemic stance” markers which indicate the speaker’s certainty or degree of confidence in the information being presented [Englebretson, 2007; Ka¨rkka¨inen, 2003; Precht, 2003]. Such markers might indicate recognition by the speaker that the act being produced was facethreatening to the hearer. We also looked for use of positive politeness strategies identified by Brown and Levinson [1987]. These include such strategies as overtly attending to the hearer’s needs by producing compliments, asserting approval or exhibiting heightened interest, and claiming common ground or in-group membership with the hearer.

RESULTS Participant Characteristics lyzed from a discourse analytical perspective, and to capture the potentially problematic nature of these consultations. QSR NVivo qualitative data management software [Qualitative Solutions and Research International Pty Ltd, 2006] facilitated the organization and analysis of the data. Content analysis was the first level of analysis used to investigate the data. In a qualitative context, content analysis can involve any kind of analysis where communication content, such as interviews, can be compartmentalized [Cameron, 2001]. Each consultation transcript was examined closely (coded) to identify a list of categories of the types of interactions which took place. The individual categories were reviewed by each investigator in order to ensure reliability of the interpretations that were being made. From the level of content analysis that was applied to the transcripts, it was possible to individually map the consultations. Mapping involved identifying the types of interaction that were taking place in terms of the content or topic of information being discussed. This allowed for similarities and differences between the consults as to the types of topics covered, and when they were being covered to be easily visualized (Appendix I). Analyzing the content of the consultations led to the identification of problematic and challenging interactions, which were then explored in depth using qualitative discourse analysis. The analysis undertaken fits broadly into what Roberts and Sarangi [2005] have called “theme-oriented discourse analysis”. The method of discourse analysis looks not just at “what” people say, but “how” they say it, focusing on such features as choice of lexical items and grammatical structures and the way in which information is presented [Cameron, 2001]. Interactions were identified as chal-

Eight families consented to participate in the study. Poor sound quality of one of the consultation recordings meant that this family could not be included in data analysis. Participant characteristics for the seven families included are given in Table II; all names are pseudonyms. Four clinical geneticists participated in the study. Two of the participating geneticists were fellows with two years experience in clinical genetics, and two were consultants with more than eight years clinical experience. Each fellow was joined by a consultant before the end of their consultations.

Mapping of the Consultations Fifteen structural codes were identified which were common to each of the consultations:             

Opening the consultation, Discussing referral, Geneticist setting agenda, Gathering demographics, Gathering family history, Gathering birth information, Discussing child’s medical and developmental history, Discussing first signs or symptoms, Discussing child’s current level of function, Physical examination, Discussing child’s physical features, Discussing genetic testing, Discussing diagnosis (definite/possible/lack of),

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TABLE II. Participant Characteristics Pseudonym Geneticist Parent(s) present Age of child Diagnosis given

Daniel Dr B Stephanie 2 years Yes: Fetal valproate syndrome

Emily Dr C Joanne & Robert 1 year No

Tom Dr D Clare 7 years No

 Discussing the next steps/future,  Geneticist summarizing the consultation. For each consultation there was either discussion about a definite syndrome diagnosis (n ¼ 1), that no diagnosis could be given at that time (n ¼ 4), or that a syndrome diagnosis was possible (n ¼ 2). During each of these discussions, there was always talk about the future and what steps needed to be taken next.

Selective Discourse Analysis Qualitative discourse analysis was used to study the language and communication patterns of certain interactions which were selected for their problematic and challenging nature. These selected interactions included discussions about the child’s physical appearance, about the lack of a diagnosis, and about the child’s future. Other areas of the consultations which were not analyzed further were mainly information gathering interactions, such as the gathering of demographics, taking the family history, and asking about pregnancy and birth information. Following the content analysis phase it was evident that communication during these interactions was largely question-answer based, and did not present any obvious communication difficulties.

Talking About the Child’s Physical Appearance From mapping the consultations it was clear that attention was always drawn to the child’s physical features. In six of the seven consultations it was a parent who first brought up the topic (Table III). For the most part parents were primed to discuss the child’s appearance, among other issues such as developmental difficulties, due to earlier interactions with other health professionals. In the letter advising them of their appointment, they had also been asked to bring photographs of the child and family members to the consultation. These examples show that for this group of parents, almost all of them displayed awareness of at least some aspects of their child’s unique physical appearance. In a number of cases they referred to an evidential source of information to ground the comments made: Daniel’s mother notes “I’ve noticed (..) or well [  ] they’ve told me about it”, and Tom’s mother says “which Dr Watson (..) um (..) noticed”. Lisa’s mother also qualifies her description with the epistemic stance marker “I just didn’t reckon”. Parents generally presented their descriptions of their child’s appearance in a direct and objective fashion. There were a few

Mary Dr A Kate 6 years No

Heather Dr D Lauren & Connor 1.5 years No

Julie Dr B Sara & Jim 6 years Possible: marker chromosome

Lisa Dr B Pam & Chris 9 months Possible: Prader–Willi syndrome

TABLE III. Parents Bringing Attention to Their Child’s Physical Features Daniel’s consultation: Stephanie Dr B Stephanie Dr B Stephanie Emily’s consultation: Robert Dr C Joanne Robert Tom’s consultation: Clare Dr D Mary’s consultation: Kate Dr A Kate Dr A Kate Heather’s consultation: Connor Lauren Dr D Connor Lisa’s consultation: Pam

Chris Dr B

¼his face if you look at it his eyes (..) aren’t close to the bridge of his nose, mhm I’ve noticed (..) or well they’ve tol (..) they’ve told me about it, right the paediatrician when he first laid eyes on him, (4.86) she’s got a bit of a flat spot on her (..) her head on this side is that where she tends to lie? (..) [that’s where she tended to lie when she was] [we::ll (..) she she (..) ye::ah] (..) when she was a little¼ I don’t know if you’ve noticed but he’s got an um (  ) swollen tummy which Dr Watson (..) um (..) noticed ˚mhm˚ she’s had a squint correction as well mhm [from when she was] [and which eye was that?] um it was both eyes but mainly the left, it’s closed up quite a lot in the last month so:: yes it has (..) it was extremely [( )] [( )] been kept open by the cyst ˚ye::ah˚ (..) ye::ah yeah˚ her eyes were deformed (..) and (..) I just didn’t reckon she was normal, so [I ac sh:: (..) in my] opinion (..) her eyes were deformed [her eyes weren’t deformed they] mhm

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exceptions where parents used expressions with negative connotations. In Emily’s consultation the parents discuss which of them was the source of “the weird ear”, with the doctor overtly opting out of the discussion (“I’m not going to run into that (  ) I think I’d be neutral”). In Lisa’s consultation, one parent describes the child’s eyes in emotionally loaded language, saying that the eyes were “deformed” and that she “didn’t reckon she was normal”. The other parent disputes this description, interrupting to make an overlapping comment “her eyes weren’t deformed”. Notably, the geneticist’s response is a neutral “mhm” and no attempt is made to further explore this difference of opinion. In five of the seven consultations the geneticist made an attempt to normalize the child’s appearance and minimize any differences from a stated or assumed norm (Table IV). A related strategy was to compare the child’s physical features to those of the parents, another family member, or even the geneticist him/herself (Table V). These examples are marked with indications of epistemic stance that in many cases suggest the doctor is presenting a qualified rather than emphatic or confident opinion. In Daniel’s consultation, Dr B says the observed physical differences “maybe give us a clue” and “of themselves don’t mean anything”. In Emily’s consultation, Dr C says the physical differences “may have absolutely nothing to do with” the medical problem. Dr D states that Tom’s physical feature is “not uh (..) significant” and in

examining Heather, the same geneticist notes that her physical features are “not necessarily a reflection of (..) what she would (..) naturally look like”. Frequently a comparison is set up against which the observed features are evaluated. A standard part of the consultation was to explore similarities and differences between the child’s appearance and that of other family members. In Tom’s consultation, Dr D explicitly asks for the parents’ permission to do this, acknowledging that it could be viewed as an imposition (“I may need to (..) look at (..) some aspects of you as well (..) is that ok with you?”). Table V gives examples where there is an explicit invitation to compare the child’s appearance to that of the parents (“if you compare him to yourself”; “compared to your ears”; “she’s got interesting ears but her parents have interesting ears”). Other comparisons are also made. In Table V Emily’s doctor makes a comparison with the doctor him/herself (“I’ve got very curvy little fingers (  ) most people don’t have that”). In discussing Tom, Dr D establishes a contrast between Tom’s chest which is “just a bit irregular” and “the real pigeon (..) chest” which “really caves in”. In examining Heather, the same doctor compares “the way she looks” with “what she would naturally look like” if she had not had a cyst which had been removed. Often it is acknowledged that the child has a distinctive appearance but the import of this is downplayed (“he’s the way that he looks just as you’re the way that you look and I’m the way that I

TABLE IV. Normalization of the Child’s Appearance Daniel’s consultation: Dr B Emily’s consultation: Dr C Joanne Dr C Toms’ consultation: Dr D Clare Dr D Clare Dr D Heather’s consultation: Dr D Lauren Lauren Dr D Lauren Dr D Lisa’s consultation: Dr B

all they do is maybe give us a clue as to why he’s got (..) some difficulties with le::arning and his development. the facial features of themselves don’t (..) mean anything he’s the way that he looks just as you’re the way that [you] look and I’m the way that I look¼ so (..) um (..) they may (..) have (..) absolutely nothing to do (..) with her medical problem. yup so there’s a few soft things there but nothing that I can put together (..) the real pigeon (..) chest is the one that really caves in his is just a [bit] irregular [ye:ah] [it’s not u::m] [Stuart’s got really bad] (..) pigeon chest hasn’t he?¼ ((Stuart is a cousin)) ¼it’s not uh (..) significant because she’s had these (..) forces on he:r (..) um (..) [it’s not] (..) the way she looks is not necessarily a a reflection of [˚it’s interesting˚] yeah (..) what she would (..) naturally look like, ˚yeah˚ (..) so we’ll [need to ((to Heather)) [there’s nothing] that that’s (..) particularly unusual about her (..) appearance she’s got a distinct appearance and if you (..) aren’t used to seeing it. (..) then it makes you wonder (..) but it’s not the appearance alone. (..) it’s the combination with her [other history and all the other problems (..) yeah (..) yeah]

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TABLE V. Comparing to the Parent, a Family Member, or the
Geneticist Daniel’s consultation: Dr B

Dr B

particularly the forehead and he’s got quite a (..) prominent front to his head if you compare him to yourself ----(  ) his e::ars are (..) just (..) a a little (..) not low particularly but they sit forward a bit they’re like it’s almost as if they’re rotated compared to your ears they’re (..) rotated slightly forward (..) and [he’s got]

Heather’s consultation: Dr D (..)oka::y (..) and tell me (..) um (..) does Toby also have a wide face or is this something unique [to her.] ((Toby is Heather’s brother)) Emily’s consultation: Dr C I’ve got very curvy little fingers you know [just] at the end there? Joanne [hm] Joanne mhm Dr C u:m (..) and (..) most people don’t have that ----Dr C and she’s got interesting ears (..) but (..) her parents have interesting ears Joanne huh huh huh Dr C so (..) um (..) they may (..) have (..) absolutely nothing to do (..) with her medical problem.


A dashed line (-----) indicates two separate examples from the one consultation.

look”; “she’s got a distinct appearance (  ) but it’s not the appearance alone”). Other instances of minimization can be observed in the use of expressions such as “little”, “just”, “sort of”, “a bit”, “not    particularly”, and “slightly” in descriptions of physical

features, and “all they do”, “a few soft things”, “nothing that’s particularly unusual” in evaluating these features. Overall, four communicative strategies were used during these consultations to discuss the children’s physical features in a delicate manner (Table VI).

Discussing the Lack of Diagnosis In four of the seven consultations there was a discussion about how no diagnosis could be given at that point in time. On two occasions, the lack of diagnosis was first raised by the parents (Table VII). Prior to this extract from Emily’s consultation, her parents had been given the opportunity by the geneticist to present any specific questions they had. Likewise, Heather’s parents were given the opportunity to explain their understanding of the appointment. Tom’s mother was also given the chance to explain what her understanding of the appointment was, but she was unsure of what to expect as her referring doctor had not explained what the session would be about. The geneticist was therefore the first person to refer to the topic of diagnosis, and a direct discussion about a lack of genetic diagnosis did not occur until after the physical examination, towards the end of the consult. Likewise, Mary’s mother was given a brief

TABLE VII. Parents Raising the Lack of Diagnosis Emily’s consultation: Joanne Robert Joanne Robert Joanne Dr C Joanne Robert Dr C Robert Heather’s consultation: Lauren

TABLE VI. Communicative Strategies for Discussing the Child’s Physical Appearance Communicative Strategy Everyone is different and unique Pointing out the similarities between the child and the parent/other members of the broader community Pointing out the differences between the child and the parent/other members of the broader community Minimizing the differences

Example “we all differ from each other” “and she’s got interesting ears (..) but (..) her parents have interesting ears” “it’s almost as if they’re rotated compared to your ears they’re (..) rotated slightly forward” “of themselves they don’t mean anything”

Dr D Lauren

[yeah] given that we know and or¼ ¼that we don’t know¼ ¼why (..) [what the condition is] [what the problem is,] yeah¼ ¼yeah ok yeah and or why it happened in (..) in the first place oh basically that um (..) we we’ve now uncovered a number of her problems and (..) his suggestion was that it would be worth (..) coming here to see if there was any (  ) underlying cause that you could identify [( )] [( )] a diagnosis perhaps he he thought it was unlikely that you’d be able to work (..) work (..) work out what that was but it was worth trying (..) a::nd um (..) from our point of view (..) if there is some sort of geneticy (..) if there’s any way (..) of making some sense of (..) of her condition

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TABLE VIII. Parents Offering Diagnoses of their Own Tom’s consultation: Clare Dr D Clare Dr D Clare

Mary’s consultation: Dr A Kate Dr A Kate Dr A Kate Dr A Kate Dr A

[mhm] (..) [ok?] [have] you ever heard of a:: (  ) syndrome called Williams syndrome? yes (..) u::m (..) my sister in law took (..) Ed to the doctor’s and she was explaining (..) Tom’s (  ) problems and he said without looking at him he said (..) he sounds like he’s got Williams syndrome (..) can you can you explain what that is? is that huh [huh] but just looking at her there’s nothing that jumps out and strikes me you don’t think Rett syndrome? I don’t think (..) noth (  ) I don’t think she has the behaviors (..) [really] ----he also mentioned um Angelman’s? um no happy puppet? yes that’s called ang the other name for that is Angelman’s syndrome¼ ¼right yup¼ and that’s described by Dr Angelman this test is to see whether (  ) I mean to assess whether that might be the case

opportunity to explain her understanding of the consultation, but as with Tom’s consultation there was no direct discussion about a lack of genetic diagnosis until after the physical examination. On finding out that no genetic diagnosis was currently available, both Tom’s and Mary’s parents offered diagnoses of their own (Table VIII).

Planning the Future Talking about and planning for the future always occurred during discussions about diagnosis. This included talking about genetic testing that was available or would be available in the near future, tentatively booking the next appointment, and organizing for photographs of the child to be taken and/or reviewed. The following extracts illustrating these sections are taken from the four consultations where no genetic diagnosis could be given (Table IX). In the example from Mary’s consultation, without an available diagnosis Dr A offered further testing as well as the opinion of colleagues. At this point of the consultation, Mary’s mother gave several minimal responses (“mhm” and “yup”), and one partial repeat of the future action she needed to be responsible for (“a year’s time”). Her minimal responses of acknowledgment were mirrored by parents in the other three consultations where no diagnosis could be given.

Comparatively, for the three consultations where a possible or definite diagnosis was given, parents had a larger input into the discussions about what steps needed to be taken next, and detailed discussions took place about further testing that would be done, the child’s potential, and the rate at which they might develop (Table X).

DISCUSSION Individual mapping of the consultations illustrated the broad range of topics that were discussed during each, as well as the different nature and flow of the discussions depending on whether or not a diagnosis could be made for the child. Analyzing the discourse and language used during selected challenging and problematic interactions then gave further insight into the complexity of these syndrome assessments.

Appearance In discussing their child’s different appearance, parents seem to feel the need to attribute their opinion either to their own earlier observations or more frequently to an authoritative medical source. Thus in the extracts from Daniel and Tom’s consultations (Table III), the parents gave reference to others as the source of observation by saying “they’ve told me about it” and “swollen tummy which Dr Watson (..) um (..) noticed”. These extracts highlight the subjective nature of such discussions, as does the disagreement between Lisa’s parents about whether or not her eyes were “deformed” at birth. A common pattern throughout these consultations was normalization of the child’s appearance by the geneticist. This was done by acknowledging the child’s physical appearance, but then communicating to the parents that we all have our own unique features and characteristics. Language such as “we all differ from each other”, “of themselves they don’t mean anything”, and “there’s nothing that’s particularly unusual about her”, and words such as “real”, “naturally”, “distinct” and “interesting” were used as positive ways to refer to differences. By using language such as “different to yours”, the child’s appearance is not being labeled “unusual” or “abnormal”, rather they are just being compared to their parents or other family members. The similarities between the children and their parents were also pointed out. This strategy could be very effective as parents may be used to hearing how different their child is in the wider community, which can be stigmatizing and emotionally distressing [Featherstone et al., 2007]. Pointing out similarities and differences, in particular with respect to observed family characteristics, establishes a framework within which both the geneticist and the family can evaluate the degree of atypicality of the child’s physical features, and may normalize the child’s appearance for the parents [White and Hodgson, 2011]. In Brown and Levinson [1987] terms, this is a “positive politeness strategy”, as it works to validate the child’s appearance and in many cases, to claim in-group membership between the parents, child, and the doctor. On the whole, geneticists used four communicative strategies when discussing a child’s appearance. These were often accompanied by indicators of evidential source or epistemic qualification to allow for differences of opinion and further soften the observations

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AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TABLE IX. Planning the Future—No Available Diagnosis Mary’s consultation: Dr A Kate Dr A Kate Dr A Kate Dr A Kate Dr A Kate Emily’s consultation: Dr C Joanne Dr C Joanne Dr C Joanne Dr C Joanne Dr C Joanne Robert Tom’s consultation: Dr D Clare Dr D Clare Dr D Clare Dr D Clare Dr D Clare Dr D Clare Dr D Clare Heather’s consultation: Dr D Lauren Dr D Lauren Dr D Lauren Dr D Lauren Dr D Lauren Dr D

so the sort of take home messages are (..) I can’t there’s nothing that I can sort of immediately say ah hah, (..) this ties all the problems together, (..) I think what we’ll do is I’ll we’ll get the photos reviewed by (..) my colleagues, back at ((HOSPITAL)) mhm¼ ¼and I’ll review all the other tests that we’ve got, yup¼ ¼and we’ll look at this test and then we’ll see where we go from there mhm¼ ¼and I’d like to see Mary again in a years time a years time. um (..) if there’s any information we have before then I’ll get back to you [specifically] [yeah] ok, (..) s:o I think that’s one thing that we can do (..) the result will be slow I’m sorry it will be somewhere between four and six weeks ˚hm˚ it will take (..) u::m (..) but as soon as I know the result I’ll let you know (..) u::h are you happy for me to write to you with the result if it’s normal (..) and if it’s not normal I’ll speak to you on the pho::ne ˚mhm˚ and organize to see you pretty promptly. yup, u::m so that we can talk about what the implications a:re. yup ˚both for Emily and for yourselves˚ yup ˚sure˚ (..) a:nd u::m (..) I wa (  ) perhaps if I can contact you (..) um (..) in (..) t (..) in three or four months [time] when we are ready to go with that [yup] (..) um (..) to actually (..) um (..) you know (..) enro (..) enrol him in that sort of study¼ ¼yup to [see::] [yup] (..) if we can identify (..) ˚hm˚ uh this sort of microdeletion in him ˚mhm˚ I think in the meantime it would be useful (..) to just have a few photos taken (..) uh of his face and the side of his face and his hands and feet and so on (..) um (..) so that (..) we’ve got a record of him so that when we’re (..) going through looking at publications [and trying] to [yeah yeah] (..) see if we can match him up with a diagnosis it would just be useful to [have] that information there. [mhm] u::m (..) a::nd (..) what I’m going to need to do is um (..) do a bit of um (..) searching around and see if I can match her up ˚mhm˚ (..) u::m (..) to any particular known syndrome (..) I don’t have an immediate diagnosis. ˚right right˚ u::m ((to Hannah)) and (..) I’d be very interested to see her in six to twelve months to see how her face chan[ges] [sure] after that [surgery,] [yeah] (..) yeah yeah um (..) see (..) see where she’s going with that,

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TABLE X. Planning the Future—Possible/Definite Diagnosis Lisa’s consultation: Pam Dr B Pam Pam Dr B Pam Dr B Pam Dr B Pam Julie’s consultation: Dr B

Sara Dr B Sara Dr B Sara Dr B Sara Dr B Sara Daniel’s consultation: Dr B Stephanie Dr B Stephanie Dr B

Stephanie

so (..) you know what I’m you (..) you know what I’m sort of saying there so (..) if that’s the case (..) why, (..) yeah (..) it can still happen so that’s¼ ¼it can still happen but it’s (..) it’s rare for [it] to happen. (..) yeah [yeah] so (..) you don’t sort of try and find out no we we we will¼ ¼we will [try to find out why this has happened] [we (..) we will try but I don’t know] exactly what yeah what else we can do with (..) the thing (..) we first of all have to find out whether this result is accurate or not yeah (..) ok ¼yeah (..) that you can take home with you and (..) um (..) cause it sort of it is quite confusing and complicated (..) u::m (..) and just so that you can have a read through with that (..) and then probably what we’d like to do is see Julie in about a year or so (..) just to see how she is going with her school work and development and ok to see whether we can give you [any more information] [and that’ll be different] too because she’ll actually be at school [( )] [that’s right yeah] and I think (..) children once they’re in (..) in school (..) you know (..) things do change in terms of learning and development and that (..) that (..) that might be quite useful yeah I think so (..) it’ll be a big change. won’t it? (..) you’ll like going to school full time (..) huh huh (..) she did prep full time but didn’t last at it huh huh huh huh ok (..)oka::y (..) so:: (..) is there anything else we need to do now? or [( )] [no um] (..) no (..) u::m (..) we’ll send you a (..) I’ll send you a letter, (..) and then we’ll also send you an appointment for a year’s time as well ok in input from schools and from (..) other services including (..) their local pediatrician to make sure that they reach (..) their potential and that we don’t miss any of their (..) u::m medical problems that [might] [ye::ah] be associated with a partic (..) [particular condition] [deal with it now] why they’re young before they go to school (..) ye::ah¼ ¼yeah there is that there (..) there’s also the sort of (..) the (  ) by (..) by knowing (..) you know what might be the concern for difficulties then (..) the school can target (..) intervention appropriately (..) to:: them so that they’re (1.69) you know going to reach that (..) full potential and so that they’re not (..) missing out on anything particularly hm

being presented. These strategies appeared to be aimed to address the face needs of the family, and may also have mitigated the doctor’s discomfort with engaging in what in a non-clinical context would be a highly dispreferred type of speech act. These strategies enabled the participants in the consultation to bring their attention to the child’s physical features while remaining sensitive to the parents’ perception of their child. Furthermore, since these discussions happened while the child was in the room, these strategies might also relate to the desire to not impact negatively on the child. In contrast, parents discussed their child’s appearance in a generally direct fashion. Whereas geneticists chose evaluative adjectives such as “special”, “interesting”, and “distinct” to describe atypical physical features in addition to purely descriptive adjectives such as “prominent”, “low”, “wide-set” and so forth, at least some

parents used adjectives with negative connotations to describe their child’s appearance, particularly “weird”, “wrong”, “misshaped”, “deformed”, and (not) “normal”.

Diagnosis A genetic diagnosis was not available at the time of consultation for four of the participating families. Findings show how in circumstances where no genetic diagnosis could be given, the mothers of Tom and Mary used their “voice of independence” [Babul-Hirji et al., 2010] by offering diagnostic suggestions of their own. That is, they initiated a topic of discussion that was of interest and importance to them without any prompting from the geneticist. Interestingly, these two families were not given the opportunity at the

10 beginning of the consultation to voice their concerns or expectations of the appointment. While setting the agenda at the beginning of the consultation, Dr A asked Mary’s mother the closed question of “is that as you understand it?” which did not invite her to talk about her expectations of the consultation. In contrast, the parents of Emily and Heather were given the opportunity to talk about what they would like from the consultation, and what they were expecting. This invitation to talk led to them discussing the lack of diagnosis in their child, and that they would like to know recurrence risks if at all possible. The fact that it is not always possible to find a diagnosis was therefore explicitly raised from the beginning, whereas it may have come as a surprise for the parents of Tom and Mary who were not prepared for such a possibility. As a result, following the disclosure that no diagnosis was available, Tom’s and Mary’s parents offered their own diagnoses as the consultation was closing. Our results also show that when no diagnosis could be given, talk about the child’s future occurred but was kept to a minimum. Rather, geneticists in this situation offered further genetic testing or spoke about testing that could potentially be available in the near future, thus keeping alive the hope of finding a diagnosis for the child. However, there is the possibility that the hope being raised when no definite diagnosis can be given gets in the way of dealing with the reality of the child’s current situation, and prolongs the expectation of receiving a diagnosis in the future, which may or may not occur. The projected next appointment which could offer scope for such discussion may not always take place, or may not live up to parents’ expectations. It is not known if parents feel satisfied with the plans that are set at the end of the consultation, or whether they feel like nothing has been resolved. However, talking about the child’s future was always done in a positive manner, giving parents hope for their child’s potential.

Limitations Although these consultations were recorded in 2001, clinical practice today remains largely unchanged. Despite advancements in genetic technology in the last ten years, a lack of diagnosis in children referred for syndrome assessment remains a common clinical problem (unpublished observation, Susan White). Another limitation of this study is the small sample size, however mapping of these consultations and analysis of the discourse has given novel insight into the complexity of genetic consultations in a dysmorphology clinic where the child arrives, attends, and often leaves without a diagnosis. This research contributes to the limited body of knowledge in this field.

CONCLUSIONS The main novel finding of this study concerned the ways in which parents and geneticists talked about the child’s physical appearance. The dysmorphology clinic presents the interactants, in particular the geneticist, with an inherently problematic communicative task: it makes it relevant and necessary to identify aspects of the child’s physical appearance and evaluate their atypicality relative to the norm, in a way which is generally socially sanctioned in everyday interaction. Discussion of the child’s physical features was an obligatory part of each consultation.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A In six of the seven consultations it was a parent who first broached this topic. This result suggests that these parents were aware of at least some aspects of their child’s physical appearance, and that they were willing to discuss these with a geneticist. In general, parents described their child’s appearance in a direct and relatively unmitigated way. They did show some concern with grounding the observations made in an evidential source, either qualifying them as “in their opinion” or referring to a professional as source or confirmation of the observation. Some parents used more negatively loaded lexis in describing the child’s appearance, consistent with the idea that one is freer to make negative observations about oneself or one’s family than an outsider would be. In contrast, geneticists oriented to the task of discussing the child’s appearance as one of extreme sensitivity. The four main communicative strategies identified as employed by the geneticists involved generalizing and normalizing of the child’s features and minimization of described differences. These strategies addressed the face-threatening nature of the act of noticing and assessing physical characteristics in the child and family through use of standard positive and negative politeness strategies. They appeared to be successful in bringing attention to the parts of the child’s appearance that were noticeable or that were of interest to the geneticist in looking for a diagnosis, while remaining sensitive to the parents’ perception of their child and to the needs of the child him/herself. The difference in approach observed between parents’ and geneticists’ language use in discussing the child’s appearance may reflect the fact that such discussion is a more face-threatening act for the outsider than for the family. However it is also possible that geneticists are overestimating parent sensitivity, and that parents may in fact be seeking validation of their child’s distinctive appearance rather than normalization. When no diagnosis could be given, talk about the child’s future did occur but was kept to a minimum. Rather, geneticists in this situation offered further genetic testing as part of the next steps to be taken, thus giving parents hope that a diagnosis may be available in the future.

Practice and Research Implications Our findings around the discussion of the child’s appearance challenge some of the communication practices used by geneticists in this study. The fact that parents raised the issue of the child’s features suggests that this is a topic that families do wish to discuss. Further research into parents’ preferences regarding discussing their child’s appearance is needed, but geneticists should consider sensitively but more openly broaching the topic of the child’s appearance with parents, or at least responding to cues parents may give suggesting this is a topic they wish to discuss. Our findings also highlight the differences in the strategies parents and geneticists used when discussing the child’s appearance and given the dysfluency in the geneticists’ communication on this topic, we would argue that more direct (while still non-judgmental) communication strategies around appearance by the geneticist may enhance the communication process and better meet the family’s needs. It is possible that the dysfluency exhibited by geneticists reflects more about their own discomfort discussing the child’s appearance than that of the parents’, and that geneticists may benefit from an opportunity to participate in role play or simulations in order to

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reflect upon their own attitudes to and reasons behind their approach to talking about appearance. A further suggestion for practice is to give parents the opportunity to voice their concerns and expectations at the beginning of the consultation. Parents could be encouraged to do this by being asked an open-ended question such as “what would you like to get out of this appointment?” In contrast, setting of the agenda by the geneticist followed by a phrase such as “is that ok with you?” does not invite parental participation. These results also suggest that forewarning parents at the beginning of the consultation that it may not be possible to come up with a diagnosis may prepare them for this possibility and enable a more meaningful dialogue about non-diagnosis to occur. Future research is needed to examine communication around a child’s dysmorphic features, the patterns of communication during complex consultations where no diagnosis can be given, and how satisfied parents feel with the outcome of syndrome assessment consultations. A larger sample study may reveal other communicative strategies outside the ones that were found in this study, and will provide further insights into how to effectively communicate with parents of a child with dysmorphic features.

ACKNOWLEDGMENTS This work was completed as part of a Master of Genetic Counseling thesis through the University of Melbourne and the Murdoch Children’s Research Institute, and was supported by the Victorian Government’s Operational Infrastructure Support Program. We thank the families and clincians who participated in the study. Thanks also to Abdullah Alami for his contribution to discussion of the politeness analysis of the data.

APPENDIX I: CONSULTATION MAP OF DR A AND MARY Main sections of the consultation Starting the consultation

Gathering demographics Pregnancy information Birth information Geneticist asks about the parents Gathering family history

Child’s medical and developmental history Discussing child’s current level of function Physical examination>

Sub-sections Discussing referral Geneticist setting agenda Discussing process of syndrome diagnosis (No sub-section) (No sub-section) (No sub-section) Mother’s health Mother’s development as a child Father’s development as a child Discussing relationship of the parents Comparison of child to other family members Discussing termination of pregnancy Discussing first signs or symptoms Geneticist asks about child’s general health Discussing child’s growth percentiles Discussing medical tests the child has had Discussing child’s current level of function Discussing surgery the child has had Discussing child’s physical features Geneticist asking who the child looks like Discussing relationship of the parents Parent offers genetic diagnosis Geneticist gives reassurance

Discussing process of syndrome diagnosis Photographs taken of the child Discussing lack of genetic diagnosis

Geneticist summarizing the consultation

Discussing lack of genetic diagnosis Discussing genetic tests Physical examination Discussing process of syndrome diagnosis Discussing child’s potential Parent offers genetic diagnosis Discussing future steps Discussing genetic tests Geneticist asks if parent has any questions Discussing possible genetic diagnosis Discussing lack of genetic diagnosis Discussing future steps

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