Hong Kong Journal of Occupational Therapy (2014) 24, 72e80

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ORIGINAL ARTICLE

Early Intervention in Children (0e6 Years)

with a Rare Developmental Disability: The
Occupational Therapy Role
Lucy Dall’Alba a, Marion Gray b,*, Gary Williams c, Sharon Lowe d

a
College of Healthcare Sciences, James Cook University, Townsville, Queensland, Australia
b
Cluster for Health Improvement, University of the Sunshine Coast, Maroochydore DC, Queensland,
Australia
c
College of Public Health, Medical and Vet Sciences, James Cook University, Queensland, Australia
d
Disability and Community Care Services, Queensland, Australia

Received 19 May 2014; received in revised form 28 November 2014; accepted 5 December 2014
Available online 3 March 2015

KEYWORDS
early intervention;
occupational therapy;
rare developmental
disabilities
Summary Objective/Background: This study aims to explore the occupational therapists’
role in early intervention for children diagnosed with a rare developmental disability.
Methods: A survey was distributed by mail or online, to eligible occupational therapists
currently used by the Disability and Community Care Services throughout Queensland,
Australia. Eligible occupational therapists were those working with children aged 0e6 years.
Two in-depth phone interviews were also undertaken.
Results: Eleven participants who had previously worked with at least one child with a rare devel-
opmental disability returned the survey. One participant nominated for a follow-up interview
and a second interview with a speech and language pathologist was conducted to gain a multidis-
ciplinary perspective. The most common areas requiring intervention were play support (85.3%),
activities of daily living, communication, gross motor, and fine motor skills (79.4%).
Conclusion: Family-centred practice, play therapy, and individually tailored programmes are
identified as key practice areas for this population. The important role occupational therapists
play in early intervention teams is highlighted; however, further research is needed to develop
the evidence base for best practice with particular rare developmental conditions.
Copyright ª 2015, Hong Kong Occupational Therapy Association. Published by Elsevier
(Singapore) Pte Ltd. All rights reserved.

Conflicts of interest: One of the authors (SL) involved in developing and distributing the survey is employed by the Disability and
Community Care Services, Queensland, Australia.
* Corresponding author. Occupational Therapy, ML33, School of Health and Sport Science, Health and Sport Centre, Building T, Faculty of
Science, Health and Education, University of the Sunshine Coast, Maroochydore DC, Queensland 4558, Australia.
E-mail addresses: Marion.Gray@usc.edu.au, bronwyn.tanner@jcu.edu.au (M. Gray).

http://dx.doi.org/10.1016/j.hkjot.2014.12.001
1569-1861/Copyright ª 2015, Hong Kong Occupational Therapy Association. Published by Elsevier (Singapore) Pte Ltd. All rights reserved.
Children with rare developmental disability
Introduction
Although the general health status of Australian children has
improved over the past 20e30 years, measures of develop-
mental health and well-being indicate that some children are
developmentally vulnerable (Australian Medical Association,
2010). The vulnerability of at risk groups, such as children
born into poverty, indigenous children, and those with dis-
abilities, highlights the need to ensure research continues to
investigate ways, such as early intervention, to ameliorate
risks to positive developmental outcomes. This study in-
vestigates the role of occupational therapy in early inter-
vention of children with rare developmental disabilities.
A developmental disability is defined by the Develop-
mental Disabilities Assistance and Bill of Rights Act of 2000
as, “A severe, chronic disability originated at birth or during
childhood”, which “.is expected to continue indefinitely,
and substantially restricts the individuals functioning in
several major life activities” (p. 7; Section 102). Develop-
mental disability is attributable to a mental and/or physical
impairment stemming from a number of physical or
congenital causes and can affect language and speech
development, socialeemotional development physical, and
cognitive development.
The term developmental disability is used to refer to
numerous conditions; some of the more prevalent ones
include autism, cerebral palsy, behaviour disorders, and
Down syndrome (The Developmental Disabilities Assistance
and Bill of Rights Act of 2000). The less prevalent, or
“rare”, developmental disabilities include Angelman and
Rett syndromes.
There is limited consensus regarding the prevalence of
developmental disabilities in children generally; however,
various studies have estimated the prevalence to range to
between 3.34% and 5% (Blanchard, Gurka, & Blackman,
2006; Kirby, Brewster, Canino, & Pavin, 1995). In the
United States, when behavioural and learning disabilities
are included in statistics, developmental disability becomes
more common than other chronic childhood conditions
(excluding asthma or allergic rhinitis; Barbouth & Brosco,
2002).
Within Australia, information available from the 2003
census data indicates that 4% of children from birth to 4
years have a disability, with the majority of these children
having severe limitation in activities of daily living (ADLs)
including self-care, mobility, communication, and schooling
(Australian Bureau of Statistics, 2003). Previous research
has tended to focus on the conditions that are more prev-
alent, such as autism, and there is limited evidence around
the prevalence and effect of the more rare developmental
disabilities (Kirby et al., 1995).
Early intervention through occupational therapy has
been found to be beneficial in supporting children with
developmental disabilities (Johnson & Ethridge, 1989). The
premise of early intervention is that services or interven-
tion targeted early in life can support skill development and
minimise the impact of disability on development (Case-
Smith, 2013). Occupational therapists have been acknowl-
edged as leaders in promoting and providing early inter-
vention services to infants and young children with a
disability across a range of settings (Case-Smith, 2013).
73
Although there is evidence to guide the treatment of
common developmental disabilities, there is little available
evidence to inform the practice of occupational therapists
working with children with rare developmental disabilities.
This study proposed to address this lack of information by
exploring the occupational therapists’ role in early inter-
vention for children who have a rare developmental
disability in Australia. Findings of this study will contribute
to the evidence base for service provision to this client
group and support the leadership role that many occupa-
tional therapists take in provide early intervention services.
Methods
The study used a cross-sectional, mixed method approach,
utilising both survey research and interviews for data
collection. As an exploratory study looking to collect in-
formation from therapists working with a particular popu-
lation, a cross-sectional survey research design was chosen
as the primary methodology as it is an efficient way of
collecting a snapshot of data over a large geographic area
from respondents who are thought to be the best source of
accurate information about the topic under investigation
(Schofield & Knauss, 2010). This type of design provides a
structured collection of data which can be analysed to
provide description and comparison. Follow-up interviews
were used to confirm and explore, in more depth, issues
identified in the survey data (Hammel & Carpenter, 2004).
Participant selection
Australian paediatric occupational therapists working with
children between the ages of birth and 6 years with a rare
developmental disability were the target population for
this study. A convenience sample was selected from all
paediatric occupational therapists working in the state of
Queensland, Australia, for the Department of Communities
Disability Services (DACCS). The Family and Early Childhood
Service (FECS) team within DACCS work with children from
birth to 6 years and are the primary service for children
with disabilities, including children with rare develop-
mental disabilities, in Queensland. FECS teams are multi-
disciplinary and family centred. They are also the main
employer of occupational therapists providing early inter-
vention services to children with developmental disabilities
in Queensland. DACCS has service centres based in metro-
politan and rural areas throughout Queensland, providing
service coverage to most of the state. Twenty-eight occu-
pational therapists who worked for the FECS teams across
Queensland were invited to participate. Ethics approval
was obtained from the James Cook University Human Ethics
Research Committee, Townsville, Queensland, Australia
(H3363) and approval to conduct research in the DACCS was
received (COM 08729-2009).
Survey development and administration
Owing to the broad geographic spread of potential partici-
pants, a survey was deemed the most efficient and econom-
ical way of collecting exploratory data. The combination of
74 L. Dall’Alba et al.

open and closed questions allowed for a wider range of maximise the number of respondents. The varied method
results, with closed questions allowing determination of of survey distribution was utilised to try to optimise the
descriptive statistics. Open-ended questions provided the response rate.
opportunity to extract greater detail from the participant
(Groves et al., 2004). Interviews
Although there is no consensus as to what exactly con-
stitutes a rare developmental disability, for the purposes of Two follow-up qualitative telephone interviews were
this study a developmental disability was deemed rare if it completed to add depth and richness by further exploring
has been reported to affect <5 per 10,000 people within themes identified in the survey data (Hammell & Carpenter,
any population. This is based on how the European Union 2004). Interview questions were developed to extract
classifies a medical condition as a rare disease (Commission greater detail on topics from the survey and clarify survey
of the European Communities, 2008). In this study, the term answers. All survey participants were invited to nominate if
“early intervention” refers to occupational therapy in- they would be interested in a follow-up interview to further
terventions provided to infants or young children with a explore issues raised in the survey responses. Only one occu-
developmental disability. pational therapist nominated for a follow-up interview. Upon
Survey development was performed by the first author this participant’s recommendation, a second interview was
(LD) in collaboration with a senior occupational therapist in also held with a speech pathology member of the same team in
DACCS (and coauthor (SL)) who ensured that questions were order to gain a multidisciplinary perspective into this issue.
relevant to the organisation and assisted in the construc-
tion and critique of the first draft of survey questions. The Data recording and analysis
survey was then piloted with two paediatric occupational
therapists who were not in the target group to ensure that
For the survey, different methods were utilised for data
the questions were clear, unambiguous, and had internal
analysis depending on the question type. The closed ques-
validity (i.e., the questions elicited the required re-
tion responses were coded using the SPSS version 15 (SPSS
sponses). The final survey was distributed via e-mail to all
Inc., Chicago, IL, USA). The open-ended questions were
occupational therapists working within DACCS (28 thera-
categorised using content analysis with the codes and cat-
pists across Queensland). The e-mail provided a brief
egories entered onto SPSS. As many of the open-ended
explanation and introduction to the study and an invitation
questions provided specific and similar data (e.g., list of
to participate with a link to an online survey website.
resources and other professionals, frequency of sessions)
The survey was in two parts. Part A consisted of nine
categorisation of responses was determined by the nature of
questions to be completed by respondents for each rare
the questions. For data about specific interventions used by
developmental disability found within their current prac-
therapists, similar interventions were grouped under
tice. The questions asked about the number of children
broader categories and the intervention areas of gross motor
with a rare development disability seen by the therapist;
and mobility combined under gross motor (Tables 1 and 2).
areas of intervention provided; approach used by the
For the phone interviews, notes were taken during the
therapist and the role of other disciplines and specialist
interview, and transcribed data was coded to identify
services. Part B asked respondents to describe their overall
repeated patterns or themes by the first author. As the
caseload management, format of therapy sessions, and
interviews were undertaken to investigate issues already
locality of service. Both sections of the survey utilised
identified in the survey, the interview questions also pro-
open-ended questions and multiple choice responses. An
vided external structure for data organisation. Transcrip-
example of survey questions is found in Appendix 1.
tions were also coded independently by the second author
The initial distribution e-mail was sent out by a senior
for verification (Hammell & Carpenter, 2004).
occupational therapist within DACCS to all occupational
therapists working in DACCS in Queensland. Reminder e-
mails were sent at 2-week and 4-week intervals. Six weeks Results
after the initial e-mail, hard copies of the survey were
distributed to cover those who did not respond to the online Twelve completed surveys were received from the 28
survey. A reply-paid addressed envelope was included to eligible occupational therapists working for DACCS, giving a

Table 1 Intervention Heading Derived from Collated Responses.

Specific intervention/tool responses Intervention heading derived
Puzzles, shape sorters Toys
Play dough, craft, shaving cream, handwriting, and drawing Prewriting/handwriting activities
Sign language/Makaton, symbol and picture use, making choices, Augmentative and Alternative Communication
use of visual prompts or reinforcements (AAC)
The Developmental, Individual Differences, Relationship-based Approach Engagement with person/object
(DIR approach), encouraging interaction, anticipation, shared attention
Sound play, Sound production, MORE (Motor, Oral, Respiratory and Eyes) Oral motor control
programme
Children with rare developmental disability 75

Table 2 Respondent-reported Intervention Areas and Specific Interventions Utilised.

Area of difficulty Number of respondents reporting Most common specific interventions Frequency of utilisation
using this intervention area (n Z 11) utilised within this area per child
Play support 9 (81.8) Use of toys 27.6
Cause and effect 24.1
Exploration 20.7
ADL difficulties 8 (72.7) Eating utensils training 14.8
Teaching self-feeding 14.8
Equipment 7.4
Communication 8 (72.7) AAC 70.4
Engagement with person or object 25.9
Oral motor control 14.8
Facilitative communication training 11.1
Gross motor 8 (72.7) Balance activities 27.6
Different positioning for play 20.7
Gym Ball 17.2
Fine motor 8 (72.7) Prewriting/handwriting activities 44.8
Toys 31
Tool use 6.9
Encourage point 6.9
Sensory intervention 7 (63.6) Sensory exploration 23.1
Reduction or regulation of sensitivity 19.2
Sensory diet 11.5
Vestibular Input 11.5
Equipment 6 (54.5) Bathroom equipment provided 42.1
Seating equipment provided 42.1
Positioning equipment provided 36.8
Behaviour support 5 (45.5) Positive reinforcement 28.6
Referral 21.4
Redirection 21.4
Sensory play 21.4
Data are presented as n (%) or %.
AAC Z Augmentative and Alternative Communication; ADLs Z activities of daily living.

final response rate of 42.9%. However, one of these re-
spondents was excluded from data analysis as this person
had no experience working with a rare developmental
disability. Thus, 11 respondents’ data were included in the
analyses for Part A. Only eight of the 12 respondents
completed Part B. In addition, two phone interviews were
conducteddone with an occupational therapist and one
with a speech and language pathologist. For each survey
question, the most frequently reported answers are
described below.
Part A: rare developmental disability
Respondents reported having seen 35 children with a rare
disability during their time with FECS. The two most com-
mon conditions identified were Angelman syndrome (n Z 5)
and Rett syndrome (n Z 4; Table 3). The identified condi-
tions are shown in Table 3.
Reported intervention areas
Play support was the area most frequently reported area of
intervention used by respondents (81.8%), followed by ADLs
(72.7%), communication (72.7%), gross motor (72.7%), and
fine motor skills (72.7%). Table 4 describes the interventions
used in each of the above areas.
Family-centred approach
The FECS team’s aim is to have a family-centred approach
to working with children. The key to this approach is the
involvement of the family in all aspects of service delivery
and decision making. The respondents reported that the
majority of parents have a moderate (47.1%) or high
involvement with their child’s therapy (38.2%), with only a
small percentage of parents (14.7%) having a low level of
involvement with their child’s therapy. High to moderate
involvement was indicated where parents were actively
involved in the therapy session and carried out intervention
plans at home. Low involvement was indicated if parents
brought the child to therapy sessions but had minimal
engagement with therapy sessions or home programmes.
Multidisciplinary team
Participants were asked to identify the range of health
professional and specialist services involved in the provision
of service to this population. The FECS team is divided into
geographical subteams. On each subteam, there is consis-
tently an occupational therapy and speech pathology po-
sition. Other positions that may be found on other teams
include a physiotherapist, psychologist, social worker,
resource officer (therapy aide), and an administrative po-
sition (Table 4). The results also demonstrate that children
76 L. Dall’Alba et al.

Table 3 Conditions Reported Through Questionnaire.

Condition reported
Angelman syndrome
Rett syndrome
Fragile X syndrome
RubinsteineTaybi syndrome
Cornelia de Lange syndrome
Hydroencephaly
Cri Du Chat syndrome
PradereWilli syndrome
Noonan syndrome
William syndrome
PallistereKillian syndrome
Netherton syndrome
DiGeorge syndrome
More folds in the grey matter
No white matter
Sotos syndrome
Lissencephaly
Four limb amputee with
intellectual impairment
EhlerseDanlos syndrome
Seizure disorder
Ohdo syndrome
LennoxeGastaut syndrome
Frequency reported Prevalence as identified
within survey in literature
5 5 per 100,000 Angelman Syndrome Association
Australia (2009)
4 6.7 per 100,000 Budden (2006)
2 27.8 per 100,000 males Fragile X Association of Australia (2010)
16.6e25 per 100,000 females
2 0.8 per 100,000 Medline Plus (2009)
2 10 per 100,000 Genetic Home Reference (2010)
2 Unable to find prevalence
2 2e4 per 100,000 Cri Du Chat Support Group of Australia
(2007)
1 6.7 per 100,000 Prader Willi Syndrome Association of
Australia (n.d.)
1 20e100 per 100,000 Better Health Channel (2009)
1 5 per 100,000 Williams syndrome information sheet
(2005)
1 <200 diagnosed cases in PKS Kids (2010)
the world
1 2 per 100,000 E Medicine (2009)
1 25e50 per 100,000 E Medicine (2010)
1 Unable to find prevalence
1 Unable to find prevalence
1 7.1e10 per 100,000 Genetic Home Reference (2006)
1 <1 per 100,000 Health Line (2002)
1 Unable to find prevalence
1 20 per 100,000 EhlerseDanlos National Foundation
(2009)
1 Unable to find prevalence
1 25 individual reports up to Day et al. (2008)
2008
1 26 per 100,000 Trevathan, Murphy & Yeargin-Allsopp
(1997)

and their families also attended health services outside of
the FECS team including specialist medical services and
allied health services (Table 4).
Special education services were found to be supporting
90.6% of the children; other organisations included
Queensland Health (government health service) (13%),
specific associations for conditions (8.6%), Vision Australia
(4.3%), Audiology (4.3%), and respite providers (4.3%).
Part B: general caseload factors
Part B questions related to general caseload management.
Eight out of the 12 respondents completed this section.
25% always provided the family with a written action plan
and report, 50% usually did, and 25% sometimes provided
written information.
Locality
Using the Rural Remote and Metropolitan Areas guidelines
for locality (Australian Institute of Health and Welfare,
2004), the locality was split into metropolitan (>100,000
people) and rural areas (<100,000 people). Approximately
25% of respondents practised in metropolitan areas and 75%
of respondents in rural areas. Half of those practising in a
metropolitan area reported providing outreach services to
suburban areas outlying the metropolitan centre.

Appointment scheduling and format Interviews

A number of factors were identified as influencing
appointment frequency (Table 5). Those most cited were
the therapist’s current caseload (87.5%) and the distance
between child and therapy (62.5%). The general format for
therapy sessions utilised both centre-based sessions and
home visits (62.5%), followed by centre-based sessions only
(25%), then home visits only (12.5%). Of the respondents,
Phone interviews were completed with two female mem-
bers of a FECS team: an occupational therapist and, in
order to gain a multidisciplinary perspective of occupa-
tional therapy, a speech and language pathologist. One
respondent was a new graduate who had been on the team
for 6 months; the other had been with FECS since gradua-
tion, 5 years earlier.
Children with rare developmental disability 77

Both respondents identified that greater research and

Table 4 Frequency of Involvement of Other Health Pro-
communication with stakeholders was required when work-
fessionals with the Service User.
ing with a child with a rare developmental disability as there
Members of Family and Early Frequency of is often a high level of health professional involvement from
Childhood Service (FECS) team involvement of other a range of agencies. Uncertainty about the likely progression
who were also working with child professionals per child of the child meant that trial and error was a common part of
Speech and language pathologist 93.8 therapy and that an individualised approach was important.
Physiotherapist 65.6
Social worker 46.9 Discussion
Psychologist 37.5
Resource officer 12.5 Interventions for children with rare developmental
Booking officer 9.1
disabilities
Health Professionals outside of Frequency of
FECS team working with involvement of Play is a child’s most important occupation (Papalia, Olds,
service user other professionals & Feldman, 2007). In this study, play was shown to be the
per child most frequent area of therapist intervention. Respondents
Doctor 96.7 in this study identified toys as being the most frequently
Specialist 50 used intervention medium to improve play in children with
Speech and language pathologist 43.3 rare developmental disabilities. Van Berckelaer-Onnes
Physiotherapist 43.3 (2003, p. 422) highlights that playing with “.different
Occupational therapist 30 materials and toys help children to make sense of their
Psychologist 23.3 surrounding world and the objects in it.” Furthermore, the
Other health professionals 20 manipulation of toys creates sensory and motor experi-
Alternative health professional 16.7 ences and teaches cause and effect (Van Berckelaer-Onnes,
2003). The most common intervention applied when work-
Data are presented as %.
ing with children with communication limitations was re-
ported as “Augmentative and Alternative Communication”.
Previous literature has found that Augmentative and
Key findings from the interviews include: Alternative Communication improves the individual’s abil-
ity to communicate, and may well play a small part in
(1) While all children underwent an initial screening, a increasing speech development (Millar, Janice, Light, &
more in-depth investigation and assessment process Schlosser, 2006).
was required for a child with a rare condition. Children with developmental disabilities have been re-
(2) A family-centred approach was utilised, in which ported to have difficulty in completing ADLs (Kottorp,
engaging with families, parent education, and Bernspang, & Fisher, 2003). This current study showed
modelling were seen as important aspects of inter- that enabling engagement in ADLs was a key intervention
vention planning and implementation. area of occupational therapists working with children with
(3) Parental involvement in therapy was seen to be rare development disabilities. This focus on key areas of
influenced by parental perception and engagement. occupational engagement demonstrates the importance of
(4) Intervention plans are provided to the family, but occupational therapy within a multidisciplinary team
implementation of the plan is influenced by family/ (Crepeau, Cohn, & Schell, 2003).
child health instability. Gross motor performance was identified by respondents
as a major area requiring intervention in children with rare
developmental disabilities. Intervention at this level is
important as poor motor development leads children to be
Table 5 Factors Identified by Therapists as Influencing limited in their participation in play, resulting in further
Appointment Frequency. disruption of physical and psychosocial development
Factors affecting appointment Number of respondents (Emck, Bosscher, Beek, & Doreleijers, 2009).
frequency identifying this as a In this study, the most common difficulties found with
factor (n Z 8) fine motor skills was grasp and release, strength, and
Current caseload 7 (87.5) manipulation. Fine motor issues were commonly addressed
Distance between child and 5 (62.5) with interventions based on prewriting and handwriting
therapy activities, as advocated by Case-Smith (2002). Improve-
Family/therapy goals 3 (37.5) ments in fine motor skills can lead to improvements in ADLs
Parent/child availability 2 (25) (Case-Smith, 2002).
Parent’s expectations 2 (25)
Time since last appointment 1 (12.5) Treatment environment
Clinical judgement 1 (12.5)
Other therapist’s involvement 1 (12.5) Guralnick (2005) stated that early life home-based inter-
vention programmes have been shown to be effective with
Data are presented as n (%).
children with a wide range of developmental disabilities.
78
However, contradictory findings on the use of home therapy
have been presented in the literature, with one study
finding no greater relevance of the therapy when practised
in a home environment (Stephenson & Wiles, 2000). This
current study found that only 12% of respondents utilised
home-based therapy alone. These therapists reported that
home-based therapy provided a greater level of conve-
nience for the family, increased comfort for the child, and
allowed more privacy for intervention. Lack of utilisation of
home-based therapy may be related to a number of factors
such as service location and resource limitations including
therapist time; however, this was not explored in depth by
this study. The success of home-based therapy reported in
this study suggests that further investigation is required to
determine the advantages and limitations of home-based
therapy for children with rare developmental disabilities.
Early intervention and family-centred approach
DACCS services aim to provide early intervention and family-
centred intervention to their service users. This approach is
supported by the literature which highlights that using a
family-centred model is the foundation of quality early
intervention services. The recognition of the family as the
“expert” of the development of the child is foremost and
ensures that informed decisions are made (Stephens &
Tauber, 1996; Tomasello, Manning, & Dulmus, 2010).
The survey results found that 85.3% of respondents uti-
lise intervention methods which involve a moderate to high
level of parental involvement. In paediatrics, it is not
possible to separate the needs of the child from that of
family functioning (Herring et al., 2006). For example,
parental stress has been indicated as a problem which re-
sults in poor sleep quality (Gallagher, Phillips, & Carroll,
2010; Most, Fidler, Laforce-Booth, & Kelly, 2006), weaker
sense of coherence, and poor health (Oelofsen &
Richardson, 2006). Family-centred practice, as illustrated
in this current study, has been shown to increase the effi-
cacy of therapy interventions and provide much-needed
support to the family (Gallagher et al., 2010).
Respondents identified that distance to travel was a key
factor that influenced appointment frequency. With the
majority (75%) of the respondents servicing a rural area,
covering large distances, it is likely that the frequency of
therapy was reduced in many cases. Evidence around the
issue of limited access to health care services for rural
Australian residents is growing (Eckert, Taylor, & Wilkinson,
2004). Rurality also presents different lifestyle issues to
metropolitan living. It is important that issues related to
rural living are considered when planning intervention for
rural clients. Boshoff and Hartshorne (2008) highlight that
holistic intervention strategies are considered more effec-
tive in rural and remote areas.
Qualitative interviews
Interviews emphasised the importance of family-centred
intervention, which was supported by the literature.
Graham, Rodger, and Ziviana (2009) noted that paren-
tetherapist intervention is now considered an emphasis
for therapy when working with children. Another area
L. Dall’Alba et al.
described as important in both interviewees’ practice is the
need to complete greater amounts of research when a child
presents with a rare condition. However, finding relevant
information presents a challenge for therapists as there is
little evidence on which to base practice (Hammell &
Carpenter, 2004). Although standard interventions may
reduce time associated with the planning and executing of
the intervention, it may be at the expense of the service
user who may never reach their potential (Crepeau et al.,
2003). As highlighted in the results of this current study,
intervention should be developed to suit the service user
and in collaboration with the family. Until better evidence
is available for the treatment of children with rare devel-
opmental disabilities, using a combination of research,
patient preference, and clinical judgement, can provide
best practice to service users and families (Taylor, 2000).
Limitations
Survey methodology is limited by the amount of questions
that can be asked and the depth that can be achieved from
responses. Owing to the retrospective nature of the survey,
memory bias and self-interpretation may have been an
issue (Groves et al., 2004). Despite this limitation, this
data-gathering method fitted the exploratory nature of this
research and was supported by more in-depth data from
the interviews.
The response rate of 43% for Part A of the study is a
possible limitation as this increases the likelihood that se-
lection bias will affect the results of the survey (Groves
et al., 2004). However, given the explicit purpose of this
study to examine rare developmental disabilities, it is likely
that nonresponse was partly a consequence of nonexposure
to relevant clients. Therefore, nonrespondents may not
have added to the data. Regardless, it could be assumed
that, any influence selection bias had would be that more
positive respondents participated. This positive influence
may illuminate more innovative intervention techniques,
providing useful information for all therapists in the field.
The results do not indicate the prevalence of rare
developmental disabilities owing to the small sample size.
Collapsing the different conditions into the broader term
“rare developmental disabilities” may cause a reduction of
the diagnostic specificity of the findings. The data does,
however, act as a qualitative audit of unusual cases found
within DACCS and highlights the variety of conditions likely
seen by paediatric occupational therapists in Australia.
Conclusion
This study explored the occupational therapists role in early
intervention for children who have a rare developmental
disability in Australia. The results of this study show the
importance of family-centred practice when working with
children with rare developmental disabilities, and the use of
play therapy as a key area of intervention utilised by occu-
pational therapists working with this population. These two
interventions are advocated in the literature as best prac-
tice for general developmental disabilities. Other frequently
identified areas of occupational therapy intervention with
this population include ADLs, gross and fine motor
Children with rare developmental disability
performance, and communication. Participants also re-
ported that, because of limited available literature on rare
conditions and the uniqueness of each individual, interven-
tion tailored to the individual need are important. Given the
occupational therapy focus on client centredness, which
promotes holistic, flexible, and needs-based interventions,
this research highlights the important role that occupational
therapists can play in early intervention teams.
As an exploratory study, further research is indicated to
confirm the findings of this study. It is suggested that a
larger cross-sectional study be conducted across a wider
geographic and organisational population of therapists. In-
vestigations into the benefits and barriers to home-based
therapy for this population are also recommended. A case
study approach to future research may assist in developing
the evidence base for best practice with particular rare
developmental conditions.
Acknowledgements
This research was conducted in collaboration with Disability
and Community Care Services, Queensland, Australia.
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Appendix 1. Example of survey questions.
Example question
Part A: Information about the type and frequency of rare
developmental disabilities seen by therapist
Name of low/moderate incident developmental disability
Number of clients with this disability
What intervention/s did you use in the following areas with
these children? (please tick as many as required)
What level of involvement did the child’s family have in the
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Are you aware of other members of your team that were also
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Part B: Description of case load management, format of therapy
and location of service
On average how often do you see each client?
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(please tick only one)
What setting/s do you work in? (please tick as many as required)
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pdf.
Response type
Open
Open
Multiple choice (e.g., Behaviour support/Play/Fine
motor/Communication/Sensory/ADL/mobility)
Multiple choice scale (e.g., High: exercises given to
family for child to complete at home; Moderate;
Low: parents brought child to therapy/Nil
Open
Open
Open
Multiple choice (e.g., home based/centre based/both)
Multiple choice (e.g., metropolitan/metropolitan with
outreach/rural/rural with outreach/remote/remote
with outreach)