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Providing Family-centred Care for Rare Diseases in Maternity Services: Parent Satisfaction and Preferences when Dysmelia is Identified

Authors:

Abstract

Problem and background: Dysmelia is usually detected prenatally or postnatally in maternity services. The provision of family-centred care for parents at the time of initial diagnosis is crucial to facilitate decision making, access to appropriate services, and the provision of parental care-giving, but no research has investigated parent experiences or preferences in this population. Aims: The current research aimed to address this by investigating satisfaction with service, occurrence of signposting and preferences in this group. Methods: Two online surveys were conducted. In the first survey (n=417), parents reported whether they were offered signposting information and their level of satisfaction with the service they received when initially diagnosed. In the second survey (n=130), a subgroup of participants who completed the first survey reported their preferences for signposting and health service access after diagnosis. Findings: On average, participants were less than satisfied with the service they received and only 27% were offered signposting information. Satisfaction was higher amongst parents who had been offered signposting information. 91% of parents said they would have wanted signposting information and 67% would have wanted access to a support group. Conclusions: There is a need to improve the family-centeredness of care when dysmelia is identified. Offering signposting information to relevant third-sector organisations may increase parent satisfaction and address parent preferences. These findings could have implications for parents of children with other rare diseases identified in maternity services.
Article in Women and Birth (2016)
Providing Family-centred Care for Rare Diseases in Maternity Services: Parent
Satisfaction and Preferences when Dysmelia is Identified
Judith Johnson, PhD, ClinPsyD, Geoff Adams-Spink, BA (Hons), Tobias Arndt, Dileep
Wijeratne, MRCOG, MBChB (Hons), Jane Heyhoe, PhD , and Peter Taylor, PhD, ClinPsyD
Providing Family-centred Care for Rare Diseases in Maternity Services: Parent
Satisfaction and Preferences when Dysmelia is Identified
Abstract
Problem and background: Dysmelia is usually detected prenatally or postnatally in
maternity services. The provision of family-centred care for parents at the time of initial
diagnosis is crucial to facilitate decision making, access to appropriate services, and the
provision of parental care-giving, but no research has investigated parent experiences or
preferences in this population.
Aims: The current research aimed to address this by investigating satisfaction with
service, occurrence of signposting and preferences in this group.
Methods: Two online surveys were conducted. In the first survey (n = 417), parents
reported whether they were offered signposting information and their level of satisfaction
with the service they received when initially diagnosed. In the second survey (n = 130), a
subgroup of participants who completed the first survey reported their preferences for
signposting and health service access after diagnosis.
Findings: On average, participants were less than satisfied with the service they
received and only 27% were offered signposting information. Satisfaction was higher
amongst parents who had been offered signposting information. 91% of parents said they
would have wanted signposting information and 67% would have wanted access to a
support group.
Conclusions: There is a need to improve the family-centeredness of care when
dysmelia is identified. Offering signposting information to relevant third-sector organisations
may increase parent satisfaction and address parent preferences. These findings could have
implications for parents of children with other rare diseases identified in maternity services.
Providing Family-centred Care for Rare Diseases in Maternity Services: Parent
Satisfaction and Preferences when Dysmelia is Identified
Introduction
Summary of Relevance
Problem Family-centred care at the time that dysmelia is identified is crucial
to support parent decision making and care-giving, but no research
has investigated parent experiences or preferences in this
population.
What is already
known
Parents of children with other congenital differences report finding
signposting information for third sector organisations beneficial.
What this paper adds There is room for improving the care provided in maternity services
when dysmelia is identified in babies pre or postnatally. Offering
parents signposting information to relevant organisations may
represent one simple step towards providing family-centred care.
Rare diseases are considered to be those which affect less than 200,000 people in
the United States of America (US)1 or 1 in 2000 people in the European Union (EU)2. Up to
8,000 rare diseases exist altogether2 and when aggregated, they affect 25 million people in
the US3 and 29 million in the EU2. Dysmelia refers to a group of rare diseases involving
congenital limb reduction differences, occurring in around 6-8 in 10,000 births 4-6. It is
identified via ultrasound in 35-50% of cases 5,7, and if diagnosed at this time, parents will
experience uncertainty about the likely degree of disability and a potentially higher risk of
fetal demise or stillbirth 4,7. They may also need to make a decision regarding terminating the
pregnancy, and termination rates have been reported to vary across specific diagnostic
groups, ranging from 20% to 50% 4-6. If identified postnatally, parents may need rapid access
to information and support, in order to enable them to provide care for a child with a
disability8.
Family-centred care can be understood as care which encourages and facilitates
family support and networking, responds to the needs of families, and emotionally supports
them9. At the time that a limb difference is identified, family-centred care is necessary to
enable optimal parental decision making and care provision for infants with dysmelia. One
key need for parents at this point is the identification of a specific diagnosis, as these have
different associated aetiologies, symptom profiles and expected outcomes, which can
influence parent decisions prenatally, and inform the healthcare needs that both they and
the infant will have postnatally 5,6. However, due to a scarcity of relevant knowledge in local
health services, the identification and correct specific diagnosis of dysmelia and other rare
diseases is delayed, with deleterious physical, cognitive and psychological consequences10.
The current EU strategy to address this is to develop rare disease networks of individuals
with rare diseases and experts to provide rapid access to peer-to-peer support, specialised
services and high quality health care2. These networks constitute third-sector organisations
in that they are voluntary or charitable organisations which are independent of the
government, which aim to support individuals and families with rare diseases. Where the
focus of individual support-groups is on providing peer-to-peer forums, specialist networks
instead aim to i) link individuals with rare diseases with both each other and also with
relevant experts, ii) liaise with and network individual support groups with each other, and iii)
develop networks internationally. There is currently no research into whether parents find
these networks useful when receiving a diagnosis of a rare disease in maternity services, but
research in parents of children with less rare disorders has suggested that parent networks
and support groups are extremely useful, providing emotional and educational support, and
helping parents to problem solve 8,11,12. As parents of children with dysmelia need to access
specialist care to identify a specific diagnosis, these networks may be particularly beneficial
and support the wellbeing of infants with dysmelia, but this has yet to be established. The
present research aimed to address these issues through two surveys investigating levels of
parent satisfaction, prevalence of signposting (where contact details for organisations able to
provide further information/support are provided), and preferences for health care provision
at the time of initial diagnosis amongst parents of children with a limb difference.
There is also a need to understand factors which may influence signposting and
parent satisfaction. For example, due to the greater number of people affected by the drug
thalidomide during the 1960s in Europe, and the current EU strategy to support specialist
networks, there is more third-sector support for dysmelia in Europe than other locations.
However, it is unclear whether this has led to improved signposting and parent satisfaction in
European nations than elsewhere. Similarly, research in other populations has indicated that
parents prefer to know about fetal anomalies or disabilities as early as possible, as this can
allow for mental preparedness for the birth13, but it is unclear whether early (i.e., prenatal)
identification of dysmelia is associated with higher parent satisfaction than postnatal
detection. The present research aimed to address these issues, and is the first that we are
aware of which has investigated parental experience and preferences when rare diseases
are identified in maternity services. As such, it may have wider implications for rare disease
management in this setting.
The first survey aimed to assess i) overall prevalence of signposting and level of
parent satisfaction with service at the time of initial diagnosis, ii) whether the time of initial
diagnosis (prenatal v postnatal), geographical location (continent) and severity of disability
(perceived severity and number of limbs affected) was associated with variation in parent
satisfaction with service or occurrence of signposting, and iii) whether being offered
signposting information was associated with greater parent satisfaction with service. The
second survey aimed to assess the information and services parents would have liked to be
offered.
Methods
Design, Participants and Ethics
A cross-sectional survey was hosted online between July 2014 and November 2014
and advertised internationally via EDRIC (the European Dysmelia Reference Information
Centre, a specialist network for individuals with dysmelia and dysmelia experts) mailing lists,
the EDRIC website and social media. It was available in English, French, Italian and German
languages. Parents and carers of children with dysmelia were invited to participate. A
subgroup of respondents to the first survey (participants who responded to the survey
between August 2014 and November 2014; n = 130) were invited to complete a second
survey containing three additional questions addressing the services they would have liked
to receive. The research was approved by the School of Psychology, University of Leeds
Ethics Committee.
Surveys
The surveys were developed collaboratively with representatives from EDRIC. They
were developed based on i) knowledge gaps in the healthcare services research literature,
and ii) clinical need as identified by clinicians and parents of children with dysmelia who
were associated with EDRIC.
The first survey consisted of 20 items. The current study reports finding from 9 items
concerning the year and geographical location of birth, perceived severity of dysmelia (mild,
moderate or severe), number of affected limbs, timing of diagnosis (antenatal v postnatal)
and diagnostic category, satisfaction with experience of diagnosis (rated on a 5-point scale
from 1 - Very Dissatisfied to 5 - Very Satisfied) and whether signposting occurred. The
remaining 11 items included on the survey were not relevant to the aims of the current
project, and so were not included in the analysis.
The second survey contained three items asking parents whether 1) they would have
liked access to sources of information (general health information, specialist health
information, patients or peer networks or other), 2) they would have liked access to specific
health professionals (obstetrician, paediatrician, psychologist, geneticist, plastic surgeon,
specialist hand/foot surgeon, orthopaedic consultant, prostheticist, other), and 3) they would
have liked to receive support from other parents who have children with limb difference or
specialised experts. For items 1 and 2 of the second survey, participants could endorse as
many or few categories as applied. For item 3, participants were asked to respond ‘yes’ or
‘no’.
Analysis Plan
Data analysis was undertaken using the Statistical Package for the Social Sciences
(SPSS) version 22. As a large number of countries (n=18) and diagnostic categories (n=28)
were reported, geographical location was aggregated to continents (Europe, North America
and Other) and the four most common diagnostic categories (Femur Fibula Ulna complex
(FFU), Poland Syndrome, Symbrachydactyly and Amniotic band syndrome) were used in the
analyses.
Survey 1. Descriptive statistics were conducted for geographical location, perceived
severity of disability, timing of diagnosis, specific diagnosis received, type of limb difference
and the relationship of the respondent with the child with dysmelia. A series of bivariate
logistic regression analyses were undertaken to identify whether signposting to organisations
(outcome) varied according to time of initial diagnosis (prenatal vs. postnatal), perceived
severity of disability (mild vs. moderate vs. severe), perceived satisfaction and location. Due
to small numbers of cases the ‘other’ category in location was collapsed, and comparisons
were made between Europe vs. all other locations, and North America vs. all other locations.
Categorical predictors were entered as dummy variables. Ordinal regression models were
conducted to investigate whether reported satisfaction with diagnostic process (outcome)
varied according to perceived severity of disability (mild vs. moderate vs. severe), type of
limb difference and location. Due to small numbers of cases the “other” category for limb
difference was collapsed, and comparisons were made between four limbs affected vs. one
affected limb and four limbs vs. other numbers of affected limbs (i.e., two or three). Also due
to small numbers, the category for location was collapsed again, creating comparisons
between Europe vs. all other locations, and North America vs. all other locations. A single
predictor was included in each model.
Survey 2. Initially, descriptive statistics were conducted and the subgroup was
compared to the remaining sample on various indicators, to test whether this sample was
representative of the sample in the first survey. Due to the response key for items 1 and 2
(where as many items as applied could be checked) it was not possible to distinguish true
missing data from response boxes that were left blank because they did not apply. For the
purposes of this report non-response was assumed to represent the latter option, and no
imputation was used.
Missing data
There were a total of n = 452 responses to the first survey. After excluding those who
only answered two or fewer questions n = 417 remained. Rates of missing data ranged from
1.92% (relationship with individual) to 17.51% (diagnosis). Complete data was present for n
= 274 individuals. Missing data was associated with several study variables (e.g., type of
limb difference, language) suggesting data were Missing at Random (MAR)14.
Missing data was handled using Multiple Imputation (MI). This approach is
considered the gold-standard for managing missing data in a way that minimises bias14. It
involved the creation of m = 20 datasets15 where missing data were imputed based upon the
other variables in the model (language, location, birth year, type of limb difference,
diagnosis, support satisfaction, offered signposting, respondents relationship to individual,
point of diagnosis, perceived severity). Values were able to vary across each imputed
dataset. Analyses were then undertaken on each dataset and pooled results were
calculated. This process preserved the variability in the data. A sensitivity analysis was
undertaken using MI on the complete data only. No substantive differences were present.
For inferential analyses (logistic and ordinal regression) only imputed data were used.
Descriptive statistics are, however, provided for both imputed data and complete case data.
Influential cases were screened for in the complete case data using DfBeta values and
Cook’s distances (values > 1 suggest an influential case16). Where identified, sensitivity
analyses were conducted comparing the results with and without these influential cases to
establish whether they made a substantial impact to the results.
Results
Descriptive Statistics. Descriptive statistics for the study variables are reported in
Table 1. For Survey 1, results are provided both for the means-imputed data and the non
means-imputed data. Approximately a third of participants reported receiving an initial
diagnosis during prenatal screening. A majority of respondents were mothers based either in
Europe or North America. Mean satisfaction with experience of diagnosis indicated that on
average, participants were less than satisfied. A minority of respondents were offered
signposting information to a relevant third-sector organisation. The subgroup responding to
Survey 2 (n = 130) were more likely to be older, more likely to be from Europe, more likely to
be fathers (as opposed to mothers) and more likely to be in the ‘other’ diagnostic category
(compared to FFU) than the remaining sample (n = 287, Table 1).
Table 1 here
Signposting. Results of the logistic regressions are reported in Table 2. The odds of
being offered signposting information for relevant organisations were greater for those who
found out about the limb difference prenatally. They were greater for those in Europe
compared to other continents, with those in Europe having more than twice the odds of
being offered signposting information. They were also lower for those in North America
compared to other continents. Perceived severity was unrelated to whether signposting was
offered. Being offered signposting information was associated with greater satisfaction. No
outlying influential cases were identified.
Table 2 here
Parental Satisfaction with Screening and Diagnosis. Results of the ordinal
regression models are reported in Table 3. The test of parallel lines was non-significant for
all models (p > .05) suggesting the proportional odds assumption was met in all cases.
Satisfaction was significantly lower amongst those reporting four limbs affected compared to
those with other types of limb difference, and there was a trend towards those with four
affected limbs reporting lower satisfaction than those with one affected limb (p = .05).
Satisfaction was also lower amongst those reporting mild compared to severe perceived
severity and amongst those who found out postnatally compared to prenatally.
Table 3 here
Parents Preferences
Amongst participants responding to the second survey, a desire for information on
support groups and specialist treatments was particularly well endorsed (Table 4). Of the
various professional groups, consultation with a psychologist was most desired within this
sample. The item asking whether participants would have liked support from other parents of
a child with a limb difference or to specialised experts was endorsed by a large majority of
respondents.
Table 4 here
Discussion
The time of initial diagnosis is a challenging time for parents of children with a limb
difference, who may need to make difficult decisions with little information if diagnosis occurs
prenatally, or provide care without preparation if the diagnosis occurs postnatally. As such,
the provision of family-centred care at this point is crucial to both support optimal decision
making and to enable access to specialist care which could impact the long-term health of
the child10. The present research found that on average, parents were not satisfied with their
experience of receiving a diagnosis, and only 27% were offered signposting to a specialist
source of support. Levels of satisfaction varied according to timing of diagnosis, with
prenatal diagnosis leading to higher satisfaction, and according to level of disability, with
more severe disability and higher number of affected limbs associated with lower
satisfaction. Signposting occurred more than twice as often in Europe than elsewhere, and
the occurrence of signposting was associated with higher satisfaction. The second survey
into parent preferences suggested that a majority of parents were keen to access a
specialist network (91%) and information on support groups (67%). In terms of support from
health professionals, around 40% of parents reported that they would have liked access to a
psychologist and a specialist hand/foot surgeon.
The low level of reported parent satisfaction suggests that maternity services are
currently failing to provide family-centred care to parents of children with a limb difference at
the point of diagnosis. This finding is consistent with research into parent experience of
diagnosis of fetal anomaly17 and Down syndrome11, where parents have also described a
poor experience. This perceived shortfall in service provision was most keenly felt amongst
parents of more severely disabled children, and parents whose child was not diagnosed until
after birth, who reported the lowest levels of satisfaction. There has been some debate about
the utility of prenatal ultrasound screening, as it is rare that treatment can occur prior to
birth18,19. However, the present results support previous research suggesting that early
identification is preferred by parents, even when no medical action can be taken13. The
reasons for this preference were not investigated in the present study, but may be due to
enabling the parents to prepare for the birth20. No evidence was found to suggest a higher
level of parent satisfaction in Europe than elsewhere, which was contrary to expectations.
Due to the greater historical population level of limb difference caused by thalidomide, and
the concomitant higher level of third sector support (i.e., the specialist network EDRIC),
service provision could have been expected to be best here. There are several possible
explanations for this finding, including the possibility that third-sector organisations such as
EDRIC have not been effective. However, given that signposting was found to occur more
frequently in European nations it seems that third-sector organisations have indeed been
effective in raising awareness and offering parental support. Instead, these results may
indicate a need for further integration between health services and third-sector
organisations, in order for maternity services make changes in service provision in response
to service-user preferences.
These results suggest that being offered signposting to a specialist network can help
to provide a better parent experience. Not only was signposting associated with higher
satisfaction when it did occur, but 91% of parents said they would have wanted to be offered
signposting information. This is consistent with previous research indicating that after news
of a fetal anomaly, parents are keen to gain more information quickly and will utilise sources
other than their health service, including the internet17,20. In line with our predictions,
signposting was found to be higher in Europe than elsewhere. The findings also suggested
that signposting was more likely to occur when the diagnosis was made prenatally,
highlighting a particular problem with signposting in postnatal services. In the EU, where
specialist networks are currently receiving funding, these results demonstrate a need for
maternity services to provide information to staff about specialist networks and to encourage
signposting. In the US and elsewhere, these results demonstrate this same need, but also
advocate for greater investment in such networks.
The current research provided clear results regarding parent preferences. In general,
a higher number of parents wanted access to information and non-health professional
support (support groups) than to specific health professionals. In particular, a majority of
parents said that they wanted access to a specialist network (91%) and support groups
(67%). In terms of support from health professionals, around 40% of parents reported
wanting access to psychology services and to a hand/foot surgeon. Around a third of parents
wanted access to a geneticist, orthopaedic consultant or prostheticist. These findings are
consistent with previous research suggesting that peer-to-peer support is important to a
majority of parents of children with a disability11,12, but that parents’ desire to access
professional support is more varied. Previous research has indicated that some parents are
keen to access as much information from professionals as possible, whereas others prefer
to process the news of an anomaly more gradually20. Together with the present results,
these findings suggest that parents should be offered access to a wide range of services, but
the uptake of these will depend upon individual parent’s coping styles and preferences.
Limitations
These findings must be considered in the light of two main limitations. First, the group
of participants included in this study were self-selecting, responding to advertisements via
the European Dysmelia Reference and Information Centre (EDRIC) and social media.
Because of this, they are more likely to be parents who have engaged with sources of
support. This may have led to larger numbers of parents endorsing a desire for a network or
support group than a study of consecutive parents identified via a hospital register might
have. However, the current study represented over 400 parents of children with dysmelia.
Given the rarity of dysmelia (6-8 per 10000), gaining such a large sample size via a
systematic study of births would require over 570,000 births to be followed. Furthermore,
previous research in groups where a pregnancy abnormality was found has found no
difference in the data from parents who were recruited via a hospital and those recruited via
a network21.
Second, the research was not conducted immediately following the birth of the
children, which may have influenced responses due to distortion in memories over time.
However, mean year of birth was 2006, and most parents responding to the survey were
describing experiences within the past decade. Furthermore, allowing for this passage of
time i) was more ethical, as parents were less likely to still be experiencing distress related
to the event, and ii) may mean that responses were less influenced by diagnosis-related
distress, and may have benefited from time for reflection.
Conclusions
The present research is the first to investigate parent satisfaction, signposting and
preferences regarding the prenatal or postnatal diagnosis of dysmelia, or indeed any rare
disease in maternity services. Providing family-centred care at this time is important for
supporting parental decision making, and to enable parents to provide care for infants with
dysmelia. The results suggested low levels of satisfaction and signposting (27%), but that
signposting was higher in Europe where there is greater third-sector support for dysmelia.
Prenatal diagnosis, being offered signposting information, and lower levels of disability were
associated with higher levels of satisfaction. A majority of parents wanted to be offered
signposting information to a specialist dysmelia network (91%) or a parent support group
(67%). Around 40% of parents also reported a desire to access psychology services or to
see a specialist hand-and-foot surgeon. This research is the first to investigate parent
experiences of diagnosis of a rare disease in maternity services, and provides evidence that
further studies using large birth cohorts is warranted.
References
1. United States Department of Health and Human Services PHS, Office of the Assistant
Secretary for Health. Report of the National Commission on Orphan Diseases. 1989.
https://rarediseases.info.nih.gov (accessed 21st October 2015.
2. COM. Communication from the Commission on Rare Diseases: Europe’s Challenges. 2008.
http://ec.europa.eu/health/rare_diseases/policy/index_en.htm (accessed 21st October 2015.
3. NIH. Annual Report on the Rare Diseases Research Activities at the National Institutes of
Health FY 2005. 2005. https://rarediseases.info.nih.gov/about-ordr/pages/35/reports (accessed 18th
September 2015.
4. Gold NB, Westgate MN, Holmes LB. Anatomic and etiological classification of congenital
limb deficiencies. American Journal of Medical Genetics Part A 2011; 155(6): 1225-35.
5. HolderEspinasse M, Devisme L, Thomas D, et al. Preand postnatal diagnosis of limb
anomalies: A series of 107 cases. American Journal of Medical Genetics Part A 2004; 124(4): 417-22.
6. McGuirk CK, Westgate M-N, Holmes LB. Limb deficiencies in newborn infants. Pediatrics
2001; 108(4): e64-e.
7. Stoll C, Wiesel A, QueisserLuft A, Froster U, Bianca S, Clementi M. Evaluation of the
prenatal diagnosis of limb reduction deficiencies. Prenatal diagnosis 2000; 20(10): 811-8.
8. Skotko BG, Capone GT, Kishnani PS. Postnatal diagnosis of Down syndrome: synthesis of
the evidence on how best to deliver the news. Pediatrics 2009; 124(4): e751-e8.
9. Shields L, Pratt J, Hunter J. Family centred care: a review of qualitative studies. Journal of
Clinical Nursing 2006; 15(10): 1317-23.
10. Eurordis. The Voices of 12,000 Patients. 2009. http://www.eurordis.org/en/publication/voice-
12000-patients (accessed 21st October 2015.
11. Skotko B. Mothers of children with Down syndrome reflect on their postnatal support.
Pediatrics 2005; 115(1): 64-77.
12. Strauss RP, Sharp MC, Lorch SC, Kachalia B. Physicians and the communication of" bad
news": parent experiences of being informed of their child's cleft lip and/or palate. Pediatrics 1995;
96(1): 82-9.
13. Lalor J, Begley C. Fetal anomaly screening: what do women want to know? Journal of
Advanced Nursing 2006; 55(1): 11-9.
14. Schafer JL, Graham JW. Missing data: our view of the state of the art. Psychological methods
2002; 7(2): 147.
15. Graham JW, Olchowski AE, Gilreath TD. How many imputations are really needed? Some
practical clarifications of multiple imputation theory. Prevention Science 2007; 8(3): 206-13.
16. Field A. Discovering statistics using IBM SPSS statistics. 4th ed. London: Sage; 2005.
17. Lalor J, Devane D, Begley CM. Unexpected diagnosis of fetal abnormality: women’s
encounters with caregivers. Birth 2007; 34(1): 80-8.
18. Ewigman BG, Crane JP, Frigoletto FD, LeFevre ML, Bain RP, McNellis D. Effect of prenatal
ultrasound screening on perinatal outcome. New England Journal of Medicine 1993; 329(12): 821-7.
19. Bricker L, Garcia J, Henderson J, Mugford M, Neilson J. Ultrasound screening in pregnancy:
a systematic review of the clinical effectiveness, cost effectiveness and women's views. Health
Technology Assessment 2000; 4(16): 193.
20. Lalor J, Begley CM, Galavan E. A grounded theory study of information preference and
coping styles following antenatal diagnosis of foetal abnormality. Journal of advanced nursing 2008;
64(2): 185-94.
21. Sommerseth E, Sundby J. Women's experiences when ultrasound examinations give
unexpected findings in the second trimester. Women and Birth 2010; 23(3): 111-6.
Acknowledgements
This article presents independent research by the National Institute for Health
Research Collaboration for Leadership in Applied Health Research and Care Yorkshire and
Humber (NIHR CLAHRC YH). www.clahrc-yh.nir.ac.uk. The views and opinions expressed
are those of the authors, and not necessarily those of the NHS, the NIHR or the Department
of Health. We would like to thank the European Dysmelia Reference Information Centre, the
Poland Syndrome Awareness Charity (PIP), Reach charity and Raggiungere for their
support with recruiting participants, Alice Dunning, for her support with manuscript
preparation, and each of the participants who made this work possible.
Table 1
Descriptive Statistics for Survey 1 and comparison of Subgroup who Responded to Second Survey to
those Responding Only to the First Survey
Imputed
dataa
Completer
datab
Participants
responding to
both surveys
Participants
only
responding
to Survey 1
Group
difference
Variable n (%) n (%) n (%) n (%) OR
Continent Europe 223 (53.3) 209 (55.3) 119 (91.5) 103 (35.9) 1
North America 176 (42.1) 160 (42.3) 9 (6.9) 167 (58.2) 0.05**
Other 19 (4.5) 9 (0.02) 2 (1.5) 17 (5.9) 0.11*
Severity Mild 117 (28.1) 101(27.7) 31 (24.6) 86 (30.0) 1
Moderate 211 (50.6) 189 (51.8) 68 (52.3) 144 (50.2) 1.31
Severe 89 (21.3) 75 (20.5) 32 (24.6) 57 (19.9) 1.54
Timing of
Diagnosis
Postnatally 256 (61.4) 245 (60.9) 84 (64.6) 172 (59.9) 1
Prenatally 161 (38.6) 157 (39.1) 46 (35.4) 116 (40.4) 0.80
Diagnosis FFU 95 (22.8) 69 (20.1) 10 (7.7) 84 (29.3) 1
Poland syndrome 42 (10.1) 32 (9.3) 14 (10.8) 28 (9.8) 5.04
Symbrachydactyl
y
85 (20.4) 69 (20.1) 8 (6.2) 77 (26.8) 0.89
Amniotic band
syndrome
80 (19.2) 68 (19.8) 16 (12.3) 63 (22.0) 2.69
Other 117 (28.1) 106 (30.8) 82 (63.1) 34 (11.8) 25.06**
Type of limb
difference
Four limbs
affected
42 (10.1) 40 (10.2) 8 (6.2) 34 (11.8) 1
Two limbs
affected
266 (63.8) 255 (65.1) 23 (17.7) 243 (84.7) 0.38*
One limb affected 93 (22.3) 91(23.2) 92 (70.8) 1 (0.03) c
Other 16 (3.8) 6 (1.5) 7 (5.4) 9 (3.1) 4.20
Relationship
with affected
person
Mother 364 (87.1) 359 (87.8) 103 (79.2) 261 (90.9) 1
Father 34 (8.1) 33 (8.1) 22 (17.0) 12 (4.2) 4.55**
Other 20 (4.8) 17 (4.2) 6 (4.6) 14 (4.8) 1.08
Signposted Yes 111 (26.6) 103 (24.7) 49 (37.7) 62 (21.6) 2.17**
Mean Mean (SD) Mean Mean OR
Birth year 2006.23 2006.67
(8.33)
2005.13 2006.73 0.98
Satisfaction 2.59 2.61 (1.35) 2.49 2.64 0.92
* p < .05; ** p < .001
a These are the descriptive statistics once adjustments had been made for missing data. These data
were used to conduct all inferential statistics.
b These are the descriptive statistics for the participants who completed this items on the
questionnaire, before adjustments for missing data were made
c Comparison could not be made as frequencies too low
Note: MI can produce pooled frequencies that are not whole numbers. These have been rounded to
whole numbers in the current table. MI only produces pooled means not SD.
Table 2
Bivariate Logistic Regressions Predicting whether Participants were Offered Signposting Information
(significant factors presented in bold)
95% Confidence interval
Predictor OR Lower limit Upper limit
Satisfaction with serviceb1.67** 1.40 1.99
Location (Europe)
Othera1 - -
Europe 2.40** 1.40 4.12
Location (North America)
Othera1 - -
North America 0.40** 0.24 0.67
Time of diagnosis
Postnatala1- -
Prenatal 1.69* 1.07 2.66
Perceived severity
Milda1 - -
Moderate 1.02 0.59 1.74
Severe 0.74 0.37 1.50
* p < .05; **p < .01; OR = Odds Ratio; a Reference category; b Five-point scale (and as such, no
reference category was included).
Table 3
Ordinal Regressions Predicting Perceived Satisfaction (significant factors presented in bold)
95% Confidence interval
Predictor OR Lower limit Upper limit
Location (Europe)
Othera1 - -
Europe 0.84 0.56 1.27
Location (North America)
Othera1 - -
North America 1.09 0.75 1.60
Time of diagnosis
Prenatala1 - -
Postnatal 0.48*
*
0.33 0.69
Perceived severity
Milda1 - -
Moderate 0.93 0.61 1.41
Severe 0.41*
*
0.23 0.72
Type of limb differences
Four limbs affecteda1 - -
One limb affected 2.33* 0.99 5.47
Two or three affected limbs 3.14*
*
1.40 7.04
* p < .05; ** p < .01; OR = Odds Ratio; a reference category
21
Table 4
Information and Services Parents Would Have Liked to Receive
n (%)
Information on raising child with limb difference 60 (46.15)
Information on specialist treatment 66 (50.77)
Expert directory 57 (43.85)
Information on support groups 87 (66.92)
To consult with Obstetrician 6 (4.62)
To consult with Paediatrician 26 (20.00)
To consult with Psychologist 53 (40.77)
To consult with Geneticist 35 (26.92)
To consult with Plastic Surgeon 10 (7.69)
To consult with Specialist Hand/Foot Surgeon 51 (39.23)
To consult with Orthopaedic Consultant 38 (29.23)
To consult with Prostheticist 38 (29.23)
Support from other parents or specialised experts 110 (90.90)
... It is even more challenging for parents of children with disabilities because they have to make treatment decisions. In the case of parents of a child with congenital limb reduction deficiency (CLRD), the decision-making process begins when the diagnosis is confirmed, either prenatally or postnatally (Andrikopoulou et al., 2017;Johnson et al., 2016;Lalor, Begley, & Galavan, 2008), and continues throughout the upbringing of the child. The parental role in decision-making is complex and involves emotional judgements that balance benefits and future needs of the child (Allen, 2014;Bradbury, Kay, Tighe, & Hewison, 1994;Johnson, Johnson, Heyhoe, Fielder, & Dunning, 2018). ...
... These parental experiences are in line with a previous study (Andrews, Williams, VandeCreek, & Allen, 2009) showing that most families of children with CLRD received support focusing on medical and rehabilitation aspects of the condition but only a few received support focused on emotional and psychosocial aspects. This lack of emotional and psychosocial support may influence the parents' confidence in their role as decision makers for their child and may even impede the partnership and teamwork in decision-making that is advocated within the family-centred service approach (Johnson et al., 2016;Law et al., 2005;Rosenbaum et al., 1998). In the interviews, the parents expressed a wish for the HCP to provide decision support, not to make the decision for them. ...
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Background Parents of children with congenital limb reduction deficiency have an essential role in making treatment decisions during their child's first years of life. Treatment options usually concern surgical and/or prosthetic treatment. To tailor treatment options to fit different family values and priorities, the family‐centered approach indicates the importance of understanding the parental role in partnership with health care professionals. The aim of this study was to describe parents’ experiences of their role in decision‐making and treatment for children with congenital limb reduction deficiency. Methods A descriptive design with a qualitative approach was used. Semi‐structured interviews were conducted with 17 parents (12 mothers and 5 fathers) of children with upper and/or lower limb deficiency (mean age 5.9 years). The interview data were analyzed using qualitative content analysis with an inductive approach. Results Two major themes emerged from the data. The first theme, being a decision‐maker for someone else, was described as an ambivalent parental role, including collaboration within the family and with health care professionals. The second theme, becoming and being a treatment supporter in the child's everyday life, was made up of four categories: being a supporter of the child in everyday activities, mentoring the child to handle encounters with others, becoming a coordinator of information, and, being an “extended arm” of the health care provision for the child. Conclusions This study enhances our understanding of the parental role in decision‐making and treatment for children with congenital limb reduction deficiency. The results may contribute to the continued development of the family‐centered service approach by providing guidelines for treatment programs, with the goal of improving decision support and broadening the support for parents during treatment for these children.
... 6 A large number of studies have now investigated the experiences of expectant parents when receiving news of complications via ultrasound. [7][8][9][10][11][12] Together, these studies have suggested that receiving this news is experienced by parents as a journey. This journey begins with generally positive expectations of ultrasound scans followed by shock after the finding, the need to make decisions regarding further testing or pregnancy management and eventual adaptation to their new and unexpected situation. ...
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Introduction Ultrasound is used to diagnose pregnancy complications such as miscarriage and fetal health conditions. Within the UK, findings identified during ultrasound examination are delivered by sonographers as standard. However, little is known about the experiences of sonographers when delivering unexpected news (DUN), the impact this has on them, or their preferences for training on news delivery. Methods Qualitative interviews were completed with fourteen sonographers and were analysed using an inductive thematic approach. Key themes were identified. Results Participants said that obstetric ultrasound often involves ‘managing’ the patient encounter, including: navigating (unrealistic) patient expectations; handling their own responses to unexpected findings; and managing interaction by moderating emotional expression and communication practices to deliver patient-centred and empathic care. Persistent uncertainty of outcomes, prognosis and patient reactions, alongside high workloads, and frequent siloed working, makes DUN challenging for sonographers. DUN was experienced as emotionally burdensome, and sonographers employed personal coping strategies to reduce stress/burnout. However, the greatest mitigation for stress/burnout was support from peers, though accessing this was challenging. Peers were also described as key sources of learning, especially through observation. Conclusion Challenges associated with DUN are an enduring experience for sonographers. Facilitating regular ongoing support and training would enable sonographers to cope with negative aspect of the role, including the emotional burden of DUN. Implications for practice Long patient lists are prioritised to deal with high demand for services. However, sonographer wellbeing needs to be a key priority to avoid stress and burnout. This means facilitating protected time to access support from colleagues, multidisciplinary working where possible, and regular access to training to support DUN. Training focusing on communication practices, alongside dealing with emotional burdens of the role would be beneficial.
... This simple act of 'signposting' has been associated with an overall more positive perception of care in some parent groups. 24 Directing the parents Wherever possible, expectant parents should be guided out of the scan room (and out of the department, where necessary) via an exit which does not route them through the main waiting room. If they have to wait, a space should be found which is away from the main waiting room. ...
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Background Studies indicate there is a need to improve the delivery of unexpected news via obstetric ultrasound, but there have been few advances in this area. One factor preventing improvement has been a lack of consensus regarding the appropriate phrases and behaviours which sonographers and ultrasound practitioners should use in these situations. Aims To develop consensus guidelines for unexpected news delivery in Early Pregnancy Unit and Fetal Anomaly Screening Programme NHS settings. Methods A workshop was conducted to identify priorities and reach consensus on areas of contention. Contributors included interdisciplinary healthcare professionals, policy experts, representatives from third-sector organisations, lay experts and academic researchers ( n = 28). Written and verbal feedback was used to draft initial guidance which was then circulated amongst the wider writing group ( n = 39). Revisions were undertaken until consensus was reached. Results Consensus guidelines were developed outlining the behaviours and phrases which should be used during scans where unexpected findings are identified. Specific recommendations included that: honest and clear communication should be prioritised, even with uncertain findings; technical terms should be used, but these should be written down together with their lay interpretations; unless expectant parents use other terminology (e.g. ‘foetus’), the term ‘baby’ should be used as a default, even in early pregnancy; at the initial news disclosure, communication should focus on information provision. Expectant parents should not be asked to make decisions during the scan. Conclusions These recommendations can be used to develop and improve news delivery interventions in obstetric ultrasound settings. The full guidelines can be accessed online as supplemental material and at https://doi.org/10.5518/100/24 .
... This simple act of 'signposting' has been associated with an overall more positive perception of care in some parent groups. 24 Directing the parents Wherever possible, expectant parents should be guided out of the scan room (and out of the department, where necessary) via an exit which does not route them through the main waiting room. If they have to wait, a space should be found which is away from the main waiting room. ...
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Full-text available
Background: studies indicatethere is a need to improve the delivery of unexpected news via obstetric ultrasound, but there have been few advances in this area. One factor preventing improvement has been a lack of consensus regarding the appropriate phrases and behaviours which sonographers and ultrasound practitioners should use in these situations. Aims: to develop consensus guidelines forunexpected news delivery inEarly Pregnancy Unit (EPU) and Fetal Anomaly Screening Programme (FASP) NHS settings. Methods: a workshop was conducted to identify priorities and reach consensus on areas of contention.Contributors included interdisciplinary healthcare professionals, policy experts, representatives from third-sector organisations, lay experts and academic researchers (n = 28). Written and verbal feedback was used to draft initial guidance which wasthen circulated amongstthe wider writing group (n = 39). Revisionswereundertaken untilconsensus was reached. Results: consensus guidelines were developed outliningthe behaviours and phrases which should be used during scans where unexpected findings areidentified. Specific recommendations included that: honest andclear communication should be prioritised, evenwith uncertain findings; technical terms should be used, but these should be written down together with their lay interpretations; unless expectant parents use other terminology (e.g., ‘fetus’), the term ‘baby’ should be used as a default, even in early pregnancy; atthe initial news disclosure, communication should focus oninformationprovision. Expectant parents should not be asked to make decisions during the scan. Conclusions: these recommendations can be used to develop and improve news delivery interventions inobstetric ultrasound settings.
... At present, the communication of pregnancy complications identified via ultrasound varies across health systems and organisations; parents may be informed immediately by the healthcare professional (HCP) conducting the scan or later informed by their referring physician. 7 Studies suggest that parents continue to report low overall satisfaction with care at this point, 8 experiencing insensitive language from staff, 9 delays in receiving information 10 and feeling confused. 11 HCPs also describe these events as challenging; they struggle to manage parents' distress and report vicarious grief. ...
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Article
Physicians often are called on to deliver "bad news" in the form of a diagnosis with unhappy implications. Few guidelines exist for practitioners who wish to meet patient and family expectations for clear and caring communication. To develop recommendations for physicians, this study was undertaken to document how biologic parents of children born with a specific, non-life-threatening birth defect perceive the encounter with a physician during which they were informed of their children's diagnosis. The study also examines parental preferences for how this communication might best be managed and compares those with parent reports of their actual experiences. Biologic parents of children born with cleft lip and/or palate (n = 100) were studied with a self-administered questionnaire about the diagnostic encounter in which they rated theoretically derived dimensions of physician communication. Their experiences, as well as their preferences for communication in a hypothetical case, were compared through the use of ratings and open-ended qualitative narratives. Parents learned the diagnosis at birth (90%) from a physician (96%). Many report positive experiences, but there are significant differences between what parents experienced and what they desire in the informative interview. Parents wanted more opportunity to talk and to show their feelings and wanted the physician to try harder to make them feel better. As compared with their experiences, parents indicated a desire to have more information and more of a discussion about the possibility of mental retardation. They wanted the physician to show more caring and confidence, and wanted more referral to other parents, than they had experienced. Dimensions of physician behavior were more positively perceived by parents who were informed by a physician whom they felt they knew well. It is possible for physicians to effectively deliver bad news, such as the diagnosis of a birth defect, to parents. This study suggests specific communicative and educational approaches that are likely to improve parental satisfaction with such physician communications.
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Statistical procedures for missing data have vastly improved, yet misconception and unsound practice still abound. The authors frame the missing-data problem, review methods, offer advice, and raise issues that remain unresolved. They clear up common misunderstandings regarding the missing at random (MAR) concept. They summarize the evidence against older procedures and, with few exceptions, discourage their use. They present, in both technical and practical language, 2 general approaches that come highly recommended: maximum likelihood (ML) and Bayesian multiple imputation (MI). Newer developments are discussed, including some for dealing with missing data that are not MAR. Although not yet in the mainstream, these procedures may eventually extend the ML and MI methods that currently represent the state of the art. (PsycINFO Database Record (c) 2012 APA, all rights reserved)
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Limb deficiencies, the congenital absence or hypoplasia of a long bone and/or digits, vary greatly in their anatomy and etiology. Previous attempts to classify the range of possible phenotypes have not included all types of deficiencies. We present a new classification system, which includes all potential phenotypes. Infants with limb deficiencies were identified in the hospital-based Active Malformations Surveillance Program at Brigham and Women's Hospital in Boston, MA from the years 1972 to 1974 and 1979 to 2000. Affected infants were classified based on the anatomy and apparent cause of their deficiencies. The prevalence rate of all types of limb deficiency was 0.79/1,000. Upper limb deficiencies were significantly more common than lower limb deficiencies. There was no significant difference in frequencies between deficiencies on the left and right sides of the body. Longitudinal defects were more common than terminal transverse defects; intercalary defects were uncommon. Longitudinal defects were most likely to occur on the preaxial side of the limb. Almost half of affected infants had affected digits, with normal long bones. The most common apparent cause of limb deficiencies was vascular disruption defects (0.22/1,000), such as amniotic band-related limb deficiency. This new classification system includes deficiency of each long bone, as well as absence of any finger or toe. This system will make it possible to establish the prevalence of each specific phenotype. The large number of distinct apparent causes illustrates the marked etiologic heterogeneity of limb deficiencies.
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In Norway pregnant women who are not regarded to be in a risk group are offered one routine ultrasound around the 18(th) week of pregnancy. If serious abnormalities are diagnosed, the women may apply for a termination. The aim of this study was to describe and understand some pregnant women's thoughts, feelings and dilemmas of choice when unexpected findings were diagnosed after a routine ultrasound examination. This study was based on 22 semi-structured life world interviews. The women interviewed were informed of unexpected findings after undergoing routine ultrasound examinations around the 18(th) week of pregnancy. The analysis of the data was inspired by phenomenological research and followed the meaning condensation approach described by Kvale (1). The informants' experiences are presented by showing how they described shifts between juxtaposed emotional states: hope-acceptance, distancing-denial and grief-guilt. All of the informants described these swings between different emotions as a state of continuous chaos. The discovery of abnormality in a wanted child at a late stage of pregnancy can evoke an emotional crisis for women. All the informants in this study described swings between different emotions as being in a state of continuous chaos. The women had to make difficult choices regarding their own future and that of their child. Eliminating the anxiety and anguish experienced by women following a diagnosis of fetal abnormality is impossible. It must be possible, however, to mitigate their distress. Further research should develop methods to prepare women for coping in crises like these.