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A systematic review of the use of telehealth to facilitate a diagnosis for

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Article in Research in Developmental Disabilities · August 2022

DOI: 10.1016/j.ridd.2022.104269

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Research in Developmental Disabilities

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Review article

A systematic review of the use of telehealth to facilitate a

diagnosis for children with developmental concerns
Chelsea La Valle *, Emily Johnston , Helen Tager-Flusberg
Department of Psychological & Brain Sciences, Boston University Center for Autism Research Excellence, 100 Cummington Mall, Boston, MA 02215,
USA

A R T I C L E I N F O A B S T R A C T

Keywords: Background: Telehealth can reduce the gap between developmental concern and diagnosis.
Developmental concerns Evaluation of telehealth methods is needed for providers to make decisions about using tele­
Telehealth diagnostic assessments.
Diagnosis
Aim: This systematic review examined telehealth in facilitating a diagnosis for children with
developmental concerns and assessed 1) study characteristics and type of diagnostic evaluation;
2) comparison of telehealth technologies to in-person diagnostic methods; 3) feasibility and
acceptability of telehealth technologies; and 4) methodological quality.
Method and procedures: Peer-reviewed studies from PsycINFO, CINAHL, Web of Science, PubMed,
Embase, and Cochrane published January 2000-July 2021 were searched using “telehealth” AND
“developmental concern” AND “diagnosis”. Data extraction included study characteristics, diag­
nostic evaluation, technology, diagnostic accuracy, feasibility, and acceptability. Methodological
quality was assessed using NHLBI tools.
Outcomes and results: Nine studies met inclusion. Children with suspected FAS, social-emotional
concerns, suspected genetic conditions, and failed hearing screenings received a telediagnosis.
Evaluations included dysmorphology, feeding, neurological, developmental, audiological, and
psychiatric. Seven studies used videoconferencing in real-time and two used Store-and-Forward
methods. High diagnostic agreement occurred between face-to-face and remote methods.
Stakeholders reported high satisfaction and feasibility. Many of the studies were rated as fair
quality.
Conclusions and implications: Findings underscore partnership models between local providers and
remote specialists. Rigorous study designs with larger samples covering a wider range of devel­
opmental domains are needed to provide a stronger empirical base for providers.

1. Introduction

Telehealth is the use of telecommunication technologies and electronic information to support long-distance healthcare (American
Speech-Language-Hearing Association, n.d.). Telehealth methods can be used to remotely connect specialists to clients and providers
for assessment to supplement in-person services (Tuckson et al., 2017). Given the COVID-19 pandemic and advancements in
communication technologies and digital information, we have seen a growth in the use of telehealth services (Doraiswamy et al.,

* Corresponding author.
E-mail addresses: clavalle@bu.edu (C. La Valle), ebjohnst@bu.edu (E. Johnston), htagerf@bu.edu (H. Tager-Flusberg).

https://doi.org/10.1016/j.ridd.2022.104269
Received 15 February 2021; Received in revised form 4 April 2022; Accepted 17 May 2022
Available online 27 May 2022
0891-4222/Published by Elsevier Ltd.
C. La Valle et al. Research in Developmental Disabilities 127 (2022) 104269

2020), especially for autistic individuals (Autistic Self Advocacy Network, n.d.) or those suspected to be autistic (Alfuraydan et al.,
2020; Berger et al., 2022; Dahiya et al., 2020, 2021; Ellison et al., 2021; Gibbs et al., 2021; Simacek et al., 2021; Stavropoulos et al.,
2022; Wagner et al., 2021a, 2021b; White et al., 2021).
An important telehealth service is providing diagnostic assessments, which seeks to reduce the time gap between signs of first
concern and receiving a diagnosis (Corona et al., 2021). Alfuraydan et al. (2020) scoping review examined the use of telehealth for
facilitating a diagnostic assessment of autism spectrum disorder (ASD). Studies included remote assessment of the Autism Diagnostic
Observation Schedule (ADOS-2; Lord et al., 2012) and Autism Diagnostic Interview-Revised (ADI-R; Lord et al., 1994) using telehealth
technologies such as videoconferencing in real-time. Findings revealed high diagnostic agreement between remote and face-to-face
methods and high levels of satisfaction were reported by clinicians and families. Similarly, Stavropoulos et al. (2022) scoping re­
view aimed to better understand the accuracy, social validity (extent telehealth is viewed as acceptable by stakeholders), and feasi­
bility of using telehealth to diagnose ASD. Findings revealed that telehealth methods to diagnose ASD had high accuracy, feasibility,
and acceptable social validity. Taken together, Alfuraydan et al. (2020) and Stavropoulos et al. (2022) scoping reviews provide initial
support for the feasibility, accuracy, and acceptability of telehealth methods in the diagnosis of ASD.
However, evaluating the methodology quality of included studies is critically important as it can influence the accuracy, gener­
alizability, and interpretation of the results. Alfuraydan et al. (2020) used quality assessment tools from the Critical Appraisal Skills
Programme (n.d.) and the National Heart, Lung, and Blood Institute (n.d.) to evaluate methodological quality. Quality was rated as
good, fair, or poor. Of the 10 studies, eight were rated as fair quality and two were rated as poor quality. Issues with quality related to a
lack of clarity in research questions and data analysis, and insufficient information about sampling procedures and inclusion and
exclusion criteria. Evaluation of methodological quality can lend key insights into whether more rigorous research designs with larger
sample sizes are needed to assist providers in making informed decisions about using telediagnostic assessments in practice.
Although the prior reviews enhanced our understanding of the use of telehealth to facilitate a diagnostic assessment for ASD
(Alfuraydan et al., 2020; Stavropoulos et al., 2022), there is a critical need to further investigate telediagnostic assessments for a range
of developmental concerns, extending beyond telediagnostic assessments of ASD. This includes how telehealth methods are used to
facilitate a diagnosis for children with suspected fetal alcohol syndrome (FAS) or suspected alcohol-related neurodevelopmental
disorder, children who did not pass their hearing screen (speech and language concerns), children with suspected genetic syndromes
and related conditions associated with physical, growth, and developmental problems, and children with suspected mental
health/social-emotional concerns. This systematic review examining children with developmental concerns will 1) lend insights into
whether multidisciplinary diagnostic evaluations (e.g., genetics, motor) are conducted using telehealth methods; 2) identify the range
of developmental domains assessed using telediagnostic services; 3) provide evidence on the diagnostic accuracy, feasibility, and
acceptability of using telehealth methods to facilitate a diagnosis; and 4) evaluate the methodological quality of telediagnostic studies.
Children with developmental concerns may show delays in performance in one or more developmental domains and may be behind
in the acquisition of milestones (Silove et al., 2013; Simeonsson & Rosenthal, 2001). Developmental domains may include speech,
language, cognition, motor, social/emotional, and personal/daily living skills (e.g., Bellman et al., 2013). According to the 2007
National Survey of Children’s Health, approximately 20% of parents of young children expressed concerns about their child’s
development, yet few had access to developmental services (Marshall et al., 2016). Overall findings emphasized a need for more
meaningful and efficient solutions in receiving a diagnostic evaluation (Blanchard et al., 2006; Child and Adolescent Health Mea­
surement Initiative, 2009; Marshall et al., 2016).
Significant delays exist between positive screening results and receiving diagnostic services for children with developmental
concerns (Head & Abbeduto, 2007; Pizur-Barnekow et al., 2010; Strickland et al., 2004). Reasons for delays include an insufficiency of
qualified diagnostic professionals, linguistic, cultural, socioeconomic, and geographic barriers, a lack of insurance coverage, and racial
and ethnic disparities in accessing diagnostic services (Bishop-Fitzpatrick & Kind, 2017; DeGuzman et al., 2021; Huang et al., 2005;
Mazurek et al., 2014; McGrath et al., 2009; Oberklaid & Efron, 2005; Scherzer et al., 2012; Sices et al., 2003; Soares et al., 2013;
Vitrikas et al., 2017; Wang & Watts, 2007). The gap between time of first concern and diagnosis is widened for families residing in
remote and rural areas, in part, due to shortages of specialty and subspecialty physicians (Boydell et al., 2010; Guttmacher et al., 2001;
Lea et al., 2005; Marcin et al., 2004; Reese et al., 2013; Ricketts, 2000). Families of children with developmental concerns may also
encounter long waitlists in obtaining an in-person diagnostic evaluation (Head & Abbeduto, 2007; Kanne & Bishop, 2021; Marshall
et al., 2020). The COVID-19 pandemic has created additional delays in accessing in-person diagnostic services (e.g., Wong et al., 2020).
All of this makes it difficult to access essential and timely care.
Yet, an early diagnosis and intervention is linked to better long-term functional outcomes (Council on Children With Disabilities,
2006; Pizur-Barnekow et al., 2010). Telehealth holds the potential to accelerate the pathway to early diagnosis, intervention, and
treatment (Farmer & Muhlenbruck, 2001; McSwain et al., 2017; Neufeld et al., 2007; Soares & Langkamp 2012). Diagnostic services
delivered using telehealth methods play an important role not only during the COVID-19 pandemic, but also for underserved com­
munities residing in remote locations who may lack access to diagnostic services and specialty input. There is a critical need to evaluate
the use of telehealth methods to facilitate a diagnosis for children with developmental concerns to provide an empirical base for
providers and families who are using telediagnostic services.

1.1. Current systematic review

This systematic review will investigate telediagnostic assessments for a range of developmental concerns, extending beyond tel­
ediagnostic assessments of ASD; lend insights into the scope of developmental domains being assessed, including whether multidis­
ciplinary assessments are conducted; determine the feasibility, acceptability, and accuracy of using telehealth methods to facilitate a

2
C. La Valle et al. Research in Developmental Disabilities 127 (2022) 104269

Box 1
Example of search strategy used in PsycINFO database.

telediagnos* OR telehealth OR telemedicine OR mobile health OR teleassessment OR telegenetic OR ehealth OR web-based OR

telecare OR telepractice OR teleconferenc* OR telecommunicat* OR teleconsult* OR remote consult* OR remote tech* OR
videoconferenc* OR mobile app* OR mobile tech* OR mobile health OR mobile device*
AND
developmental delay* OR developmental concern* OR developmental problem* OR global developmental delay* OR neuro­
developmental delay* OR neurodevelopmental concern* OR neurodevelopmental problem* OR genetic condition* OR genetic
disorder* OR chromosomal condition* OR chromosomal disorder* OR medical condition* OR disorder* OR motor delay* OR
motor concern* OR motor problem* OR fine motor delay* OR fine motor concern* OR fine motor problem* OR gross motor
delay* OR gross motor concern* OR gross motor problem* OR language delay* OR language concern* OR language problem* OR
expressive language delay* OR expressive language concern* OR expressive language problem* OR receptive language delay*
OR receptive language concern* OR receptive language problem* OR speech delay* OR speech concern* OR speech problem*
OR communication delay* OR communication concern* OR communication problem* OR cognitive delay* OR cognitive con­
cern* OR cognitive problem* OR intellectual delay* OR intellectual concern* OR learning delay* OR learning concern* OR
learning problem* OR reading delay* OR reading concern* OR reading problem* OR social delay* OR social concern* OR social
problem* OR self-help concern* OR daily living problem* OR behavioral delay* OR behavioral concern* OR behavioral
problem* OR neurobehavioral delay* OR neurobehavioral concern* OR neurobehavioral problem*
AND
diagnostic evaluation OR diagnostic screen* OR diagnos* OR diagnostic assessment* OR genetic test* .
Limits: Publication year: 2000–2021, peer reviewed journal, document type: journal article, exclude dissertations, English
language, population group: human, age group: childhood (birth-5 years).

diagnosis, and evaluate the methodological quality of telediagnostic studies.

Research questions included the following:

1) What are the study characteristics (e.g., country, research design, setting, sample size, age, gender) and type of diagnostic
evaluation?
2) How did the telehealth technologies compare to in-person diagnostic methods?
3) Were the telehealth technologies feasible and acceptable?
4) What was the methodological quality of the included studies?

2. Method

2.1. Search procedures

The search was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA)
guidelines (Moher et al., 2009; see Appendix Table 3 for checklist) with assistance from a Boston University librarian who has expertise
in conducting systematic reviews. The electronic bibliographic databases used were PsycINFO, CINAHL, Web of Science, PubMed,
Embase, and Cochrane. Searches were conducted during July 2021. Searches were limited from January 2000 to July 2021. The
rationale for not including studies prior to 2000 is that telehealth technology was not common in the field of developmental disorders
and related conditions until 2004 (e.g., Alfuraydan et al., 2020; Aresti-Bartolome & Garcia-Zapirain, 2014). However, the literature
search was conducted from 2000 to ensure that there was no study consistent with our inclusion criteria. A combination of text terms
combined using Boolean logic (OR/AND) and controlled vocabulary headings were used. Search terms involved a combination of
technology-related terms, phrases to capture populations with developmental concerns using general and more specific terms, and
phrases related to receiving a diagnosis. See Box 1 for an example of a full search in PsycINFO. The search results were exported from
the databases into Mendeley and duplicate articles were removed.

2.2. Inclusion and exclusion criteria

The resulting articles were screened by abstract and title for exclusion and inclusion by CL. In cases where study eligibility was
unclear, it was reviewed by a second reviewer (EJ). Studies included in this review must have been (a) published in English in a peer
reviewed journal from January 2000 to July 2021; (b) included a study population of children from birth to preschool years (ages 0–5
years); (c) included children with a developmental concern(s); (d) used telehealth methods to facilitate a diagnosis. Studies were still
included if they reported on a sample of children aged 0–5 years but also included a subset of older children. All types of study designs
were included: cohort studies (prospective and retrospective observational study), pilot studies, case series studies, cross-sectional

3
C. La Valle et al. Research in Developmental Disabilities 127 (2022) 104269

Fig. 1. PRISMA flow diagram of study selection process.

studies, longitudinal studies, qualitative studies, randomized controlled trials, quasi-experimental, and single-case experimental
designs.
Studies were excluded if they 1) only contained screening tools, screening assessments, treatments, or interventions but did not
include telehealth methods for the purpose facilitating a diagnosis, 2) included children who were suspected to have ASD or children
with an ASD diagnosis (see previously published reviews: Alfuraydan et al., 2020; Dahiya et al. 2020, 2021; Stavropoulos et al., 2022),
or 3) were commentaries, conference proceedings, opinion pieces, editorials, editorial letters, reviews, or dissertations (see Fig. 1 for
additional exclusionary details).

2.3. Full-text review and data extraction

The full-texts of the remaining articles were then reviewed according to the exclusion and inclusion criteria by two independent
researchers (CL and EJ). Additional studies were identified by cross-referencing eligible studies and searching relevant journals (Pe­
diatrics; Telemedicine and e-Health; Telemedicine and Telecare). We then extracted study characteristics which included the author(s),
year of publication, country, research design, setting, sample size, type of population, participant age, and gender. We also extracted
key features to answer our study questions: type of diagnostic evaluation, telehealth technology, and specific outcomes: diagnostic
accuracy, feasibility, and acceptability (see Appendix Table 4 for operational definitions for each coding category).

2.4. Quality assessment

Assessment of the methodological quality of each included study was conducted by two independent researchers (CL and EJ). The
National Heart, Lung, and Blood Institute (NHLBI) Quality Assessment tools were used. The NHLBI includes quality assessment tools
for a range of different research designs such as observational cohort studies, cross-sectional studies, case-control studies, pre-post
studies, and case series studies. Studies were rated on the clarity of the research question/objective, how well-defined the study
population was, how inclusion/exclusion criteria was applied, justification for sample sizes, how well the measures were defined, etc.
Items of the tool were evaluated by selecting “yes”, “no”, “not applicable”, “cannot determine”, or “not reported”. This guided the
overall rating for the quality of each study as “good”, “fair”, or “poor”. In contrast to other methodological quality assessment tools
such as the Critical Appraisal Skills Programme (CASP) tool, the NHLBI Quality Assessment tools include quality scores, along with
detailed guidance documents that provide comprehensive descriptions and examples of application of each item and justification for
each item’s inclusion.

4
C. La Valle et al. Research in Developmental Disabilities 127 (2022) 104269

3. Results

3.1. Search results

A total of 3851 articles were identified using the search procedures with an additional 7 articles identified through other sources.
After removing duplicate articles, 2859 articles were selected for abstract and title screening. Of these, 76 were selected for full-text
review. Out of 76 articles, 67 articles did not meet all inclusion criteria. As a result, nine articles were selected for inclusion in the
systematic review and subsequent data extraction (see Fig. 1).

3.2. Study Characteristics and Type of Diagnostic Evaluation

Across the nine studies (Benoit et al., 2002; Dharmar et al., 2016; Douzgou et al., 2014; Elford et al., 2000; Mena et al., 2020; Myers
et al., 2007, 2008; Stalker et al., 2006; Yellowlees et al., 2008a; Smith et al., 2020), participating families often resided in remote or
rural locations with limited access to specialty input (Benoit et al., 2002; Mena et al., 2020; Myers et al., 2007, 2008; Stalker et al.,
2006; Yellowlees et al., 2008a). None of the studies occurred in a home setting. Rather, studies were conducted in clinics, hospitals, and
medical centers. For example, children were seen by their pediatrician at a medical center while a specialist at a different site con­
nected with them using videoconferencing technology (Mena et al., 2020); or at a clinic while connected via videoconferencing
technology to another clinic in order to receive a multidisciplinary diagnostic evaluation from a range of different specialists (Benoit
et al., 2002). The types of populations that used telehealth methods to facilitate a diagnosis included children with suspected fetal
alcohol syndrome (FAS) or suspected alcohol-related neurodevelopmental disorder (Benoit et al., 2002), infants who did not pass their
newborn hearing screen (subsequent speech and language concerns; Dharmar et al., 2016), children with suspected genetic syndromes
and related conditions associated with physical, growth, and developmental problems (Douzgou et al., 2014; Mena et al., 2020; Stalker
et al., 2006; Smith et al., 2020), and children with suspected mental health/social-emotional concerns (Elford et al., 2000; Myers et al.,
2007, 2008; Yellowlees et al., 2008a). Although age inclusion was 0–5 years, many studies also contained a subset of children older
than 5 years, but also included a subset of children 0–5 years. Thus, presentation of results cannot be solely generalized for the target
population of 0–5 years. Only two studies included information about gender composition (see Table 1 for study characteristics).
Types of diagnostic evaluations included psychopathology, genetics, hearing, and a combination of domains (Table 2).

3.2.1. Psychopathology
Three studies used telehealth methods for the purpose of facilitating a psychiatric diagnosis (Elford et al., 2000; Myers et al., 2007,
2008; Yellowlees et al., 2008a). A psychiatric assessment was delivered via videoconferencing and face-to-face (Elford et al., 2000). As
part of a larger eMental Health Study which provided video-based consultations, a consulting specialist met with the child and the
caregiver and was joined by the primary-care-provider (PCP) at the end of the consultation. Diagnoses were recorded using the
DSM-IV-TR, using a semi-structured interview (Yellowlees et al., 2008a). In Myers et al. (2007, 2008) study tele-psychiatrists met with
each family via videoconferencing over multiple sessions and a diagnosis was provided with summary reports sent to the referring
physician.

3.2.2. Genetics
Four studies included the use of telehealth methods to facilitate a diagnosis of a genetic syndrome(s) (Douzgou et al., 2014; Mena
et al., 2020; Stalker et al., 2006; Smith et al., 2020). Children with suspected genetic syndromes were seen by a clinician who obtained
photographs and prepared clinical summaries of each patient. Clinicians then uploaded these cases for diagnosis using a secure
web-based interface and digital diagnostic service (DYSCERNE, Dysmorphology Diagnosis System); it is a clinical genetic service that
provides expert clinical opinions from a multidisciplinary team of specialists (Douzgou et al., 2014). Similarly, Smith et al. (2020)
study enabled clinicians to utilize a Clinical Patient Management System (CPMS) to facilitate web-based clinical consultations with
relevant international experts. This telehealth-based network allowed for clinical and diagnostic expertise in the area of rare, multiple
anomaly and/or intellectual disability syndromes, chromosome disorders, and syndromic disorders. These digital diagnostic services
enabled providers and families to receive specialty input to aid in the facilitation of a diagnosis. In Mena et al. (2020) study, children
with suspected genetic conditions associated with developmental concerns were referred by their local health care provider for
evaluation at a medical center in the Dominican Republic. Patients saw the tele-geneticist after the pediatrician’s consultation. A
complete family and medical history was obtained with the local physician present with the patient during the video encounter. During
the telegenetic consultation, the pediatrician performed a physical examination, which included a neurological exam and a dys­
morphology evaluation guided by the tele-geneticist. Lastly, in Stalker et al. (2006) study, children were seen via videoconferencing by
a genetic counselor who obtained family and medical history information. With the assistance of a tele-geneticist, a local pediatrician
then performed a physical examination and the appropriate testing protocol (e.g., fragile X syndrome testing) was determined.

3.2.3. Hearing (speech and language concerns)

Infants, who did not pass their hearing screen, received a comprehensive tele-audiology diagnostic hearing evaluation (Dharmar
et al., 2016). A telepresenter prepared the infants skin, placed and connected electrodes, placed probes in the infant’s ears, and
positioned the otoscope under the guidance of the tele-audiologist who conducted the diagnostic evaluation. The evaluation included
obtaining a patient history, visualization of external structures, video otoscopy, immittance, distortion product otoacoustic emissions,
auditory brainstem response with air and bone conduction, and when indicated, auditory steady state response.

5
 Table 1

C. La Valle et al.
Study characteristics.
Author (Year) Country Research Design Setting N Age Gender, n
(M, F)

Benoit et al. Canada Pilot study, case series study Clinic Suspected ARNDD, FAS, or ARBD ¼ 6 1 yr. 5 mo. - 4 yr. 9 mo. ——
a
(2002) Participants evaluated to determine [Total ¼ 9] [Total:1 yr. 5 mo.–9 yr.]
diagnostic status of FAS & related
disorders
Qualitative observations from primary
author about lessons learned
Dharmar USA Observational prospective cohort study Medical Infants who did not pass newborn M ¼ 5.5 mo., SD ¼ 3.8 mo. ——
et al. describing infants who did not pass their Center hearing screen (developmental
(2016) newborn screening and were referred for a concerns in speech and language) ¼ 22
tele-diagnostic audiological evaluation
a
Douzgou 6 centers of expertise for Pilot cross-sectional study Clinic Suspected (rare) genetic syndromes, [Total: ages ranged from ——
et al. dysmorphology (UK, Belgium, dysmorphic conditions associated neonates to adults]
(2014) France, Italy, Netherlands, with physical, growth, and
Poland) developmental problems
[Total ¼ 200]
a a
Elford et al. Canada Randomized, controlled trial of child Hospital Children referred for a psychiatric [Total: 4–16 yr.] [Total: 18,5]
(2000) psychiatric assessments evaluation
Participants completed 2 assessments [Total ¼ 23]
(assessment order was randomized and
administered one day apart)
Mena et al. Dominican Republic Observational case series study Medical Suspected syndromic or genetic 2 days-5 yr. ——
a
(2020) Center etiology ¼ 46 [Total: 2 days-35 yr.]
[Total ¼ 66]
6

a
Myers et al. USA Naturalistic observational pilot study Hospital/ Referred by physician for psychiatric Subset of children: 2–5 yr. [Total: 118,54]
a
(2007, Medical evaluation = 23 visits were for children [Total: 2–21 yr.; M ¼ 8.6 yr.]
2008) Center [Total ¼ 172]
Smith et al. A European Union wide cross- Pilot cross-sectional study (assessed by Clinic Suspected rare, multiple anomaly Subset of infants and children ——
(2020) border, digital platform where panel of experts) and/or intellectual disability
professionals share cases with syndromes, chromosome disorders,
international experts and undiagnosed syndromic
disorders
[Total ¼ 28 cases]

Research in Developmental Disabilities 127 (2022) 104269

Stalker et al. USA Prospective cohort pilot study Clinic Suspected genetic condition ¼ 7 Birth-3 years ——
(2006) received diagnosis evaluated in
telegenetics clinic
a
Yellowlees USA Retrospective study of an eMental health Hospital/ Children referred to telepsychiatric [Total: 1–17 yr.] ——
et al. program Clinic consultation from their PCPs
(2008a) [Total ¼ 139]

Note: Dashes indicated that data was not reported. ARBD=Alcohol-related birth defect, ARNDD=Alcohol-related neurodevelopmental disorder, FAS=Fetal alcohol syndrome, PCP=primary care
physician, FTF=face-to-face, VC=videoconferencing. a Children were limited to 0–5 years unless noted as “Total”, if study included a wider age range and demographic information for the whole sample
was reported, rather than a subset (0–5 years).
 Table 2

C. La Valle et al.
Key features of included studies.
Study Participants Type of Evaluation Domain Telehealth Tele-Diagnosis Diagnostic Accuracy Feasibility Satisfaction
Technology

Benoit et al. (2002) Suspected ARNDD, Physical, dysmorphology,
FAS, or ARBD developmental,
neurological, feeding and
parent interview
Dharmar et al. Infants who did not Comprehensive tele-
(2016) pass newborn audiology diagnostic hearing
hearing screen evaluation: patient history,
(speech and language visualization of external
concerns) structures, video otoscopy,
immittance, distortion product
otoacoustic emissions, auditory
brainstem response with air
and bone conduction, and
auditory steady state response
Douzgou et al. Suspected Clinician uploads cases
(2014) dysmorphic (patient photographs and
syndromes associated clinical summaries) for
with physical, growth, diagnosis using a secure web-
and developmental based interface (DYSCERNE,
7
Physical VC Of the 6 children: 5 received a —— —— ——
Motor diagnosis of ARNDD and 1
Cognition partial FAS
Hearing VC Of the 22 infants: 59.1% —— High feasibility of A majority of parents
diagnosed with some form of conducting a high- indicated that they were
hearing loss (61.5% severe to quality infant comfortable
profound hearing loss in at audiologic discussing hearing
least one ear) evaluation via status over telehealth
telehealth. (satisfaction score of 7).
Parents and providers
scored the quality of
the visual image,
audio, and overall
consultation
experience at almost 6
or more points on a 7-
point Likert scale.
Genetics Store-and- Diagnoses were suggested in —— —— ——
Forward 100% of cases, with an average
of 3 diagnoses per case.
A total of 181 rare genetic
syndromes and 23 different

problems Dysmorphology Diagnostic groups of syndromic

System)- a clinical genetic conditions were considered in
service that provides expert differential diagnosis.
clinical opinions
Elford et al. (2000) Suspected mental Psychiatric assessment Psychopathology VC Of the 23 patients, primary For 22 patients, the Psychiatrists indicated Responses from
health, social/ diagnoses included: ADD = 9; diagnosis made via VC assessments were psychiatrists showed a
emotional concerns AD = 1; DBD = 5; AJD = 2; VC was the same as an adequate preference for FTF
CD = 2; ODD = 1; TS = 1; PCP FTF; 1 patient: two alternative to FTF assessments (easier to
=2 psychiatrists assessments and did communicate with

Research in Developmental Disabilities 127 (2022) 104269

Mena et al. (2020) Suspected genetic Family/medical history;
conditions associated pediatrician performed a
with developmental physical examination
concerns (neurological exam and a
dysmorphology evaluation)
guided by a tele-geneticist
reversed the not interfere with a patient).
primary & diagnosis. No difference was
concurrent found in satisfaction
diagnoses. responses from
patient or parents
after FTF and VC
assessments.
Genetics VC Most common inheritance was —— —— A high level of
autosomal recessive, satisfaction with the
followed by autosomal security, efficiency, and
dominant disorder, X-linked diagnostic skills of the
disorders, and chromosomal telemedicine clinic was
abnormalities indicated through
informal feedback
from all families.
(continued on next page)
 Table 2 (continued )

C. La Valle et al.
Study Participants Type of Evaluation Domain Telehealth Tele-Diagnosis Diagnostic Accuracy Feasibility Satisfaction
Technology

Myers et al. (2007, Suspected mental Psychiatric evaluation Psychopathology VC Diagnoses were typical of —— Demonstrated high Referring providers
2008) health, social/ outpatient child psychiatric feasibility by the endorsed high
emotional concerns clinics and included demographic, clinical, satisfaction with
disruptive behavior and utilization profiles telepsychiatric care.
disorders, developmental of the telepsychiatry Pediatricians were
disorders, adjustment service. more satisfied than
disorders, ADHD, and tic family physicians.
disorders Parent satisfaction
with telepsychiatry was
high with overall scores
above 4 on a 5-point
scale.
Smith et al. (2020) Suspected multiple Clinical consultation between Genetics Store-and- The 28 submitted cases —— —— ——
anomaly and/or submitting clinicians and Forward belonged to seven groups of
intellectual international experts for developmental syndromes.
disability clinical and diagnostic
syndromes, expertise
chromosome
disorders, and
undiagnosed
syndromic disorders
Stalker et al. (2006) Suspected genetic Family/medical history; Genetics VC Of the 7 children, diagnosis No new diagnoses —— Families either
syndromes associated pediatrician performed a included mild Brachman-de- were made FTF that strongly agreed or
with developmental physical (dysmorphology) Lange phenotype, had not been agreed that the
8

concerns examination and appropriate Russell–Silver syndrome, identified by evaluation of their

testing protocol was familial Velo-Cardio-Facial
determined syndrome,
neurofibromatosis type 1
and Stickler syndrome.
telehealth. child was appropriate,
No diagnoses made sufficient, and
by telehealth were sufficiently protective
judged to be wrong of their child’s privacy
when child was Informal feedback from
evaluated FTF. clinicians indicated a
high level of comfort
with the security,

Research in Developmental Disabilities 127 (2022) 104269

efficiency, and
diagnostic abilities of
the telehealth clinic.
Yellowlees et al. Suspected mental DSM-IV-TR Psychopathology VC Average number of diagnoses —— —— Anecdotal reports
(2008a) health, social/ was 1.3. suggest a high level of
emotional concerns Diagnoses fell into a variety of satisfaction and a
categories: largest group of significant perceived
children received diagnosis of benefits among rural
ADHD (36.2%), followed by providers.
mood disorders (28.1%).

Note: Dashes indicated that data was not reported. ARBD=Alcohol-related birth defect, ARNDD=Alcohol-related neurodevelopmental disorder, FAS=Fetal alcohol syndrome, ADD=Attention deficit
disorder, DBD=Disruptive behavioral disorder, AJD=Adjustment disorder, CD=Conduct disorder, AD=Anxiety disorder, ODD=Oppositional defiant disorder, TS=Tourette’s syndrome, PCP=Parent-child
problems, VC=videoconferencing, FTF=face-to-face.
C. La Valle et al. Research in Developmental Disabilities 127 (2022) 104269

3.2.4. Combination
One study included a multidisciplinary assessment for children with suspected FAS and related conditions (Benoit et al., 2002).
Interviews were conducted with caregiver(s), including information about medical history (prenatal/birth histories). Physical, dys­
morphologic, developmental, feeding, and neurological assessments were conducted with the child. The assessments were conducted
at a clinic which consisted of a pediatrician, clinical psychologist, and nurse clinician with consultation from other specialists housed at
another clinic who connected with them using live videoconferencing.

3.3. Comparison of telehealth technologies to in-person diagnostic methods

Of the nine studies, seven used a Real-Time method using videoconferencing (Benoit et al., 2002; Dharmar et al., 2016; Elford et al.,
2000; Mena et al., 2020; Myers et al., 2007, 2008; Stalker et al., 2006; Yellowlees et al., 2008a). The use of videoconferencing software
allowed families, PCPs, and specialists to meet in real-time from different locations. Using videoconferencing technology, a local
pediatrician with patients with suspected genetic conditions could perform a physical exam, dysmorphology evaluation, and neuro­
logical exam in real-time while guided by a geneticist located at a different site (Mena et al., 2020). Two clinics that varied in the types
of specialists they had on site, used videoconferencing equipment at both clinics when conducting a tele-diagnostic evaluation for
children with suspected FAS, creating a multi-disciplinary team devised of clinicians, occupational therapists, speech language pa­
thologists, geneticists, and developmental pediatricians (Benoit et al., 2002). Two studies used a Store-and-Forward method (Douzgou
et al., 2014; Smith et al., 2020) in which patient cases including photographs and clinical summaries were submitted by a clinician for
diagnosis using a secure web-based interface (digital diagnostic service). Cases were reviewed by a panel of experts with summaries
collated by the experts and sent back to the clinician. Such an approach allowed for specialty input with the attempt to shorten the
diagnostic odyssey for patients and improve their clinical management.
Only two studies included a diagnostic accuracy outcome (Elford et al., 2000; Stalker et al., 2006), comparing a tele-diagnosis to an
in-person diagnosis. Findings revealed high diagnostic accuracy when comparing face-to-face to telehealth-based diagnostic methods.
In Elford et al. (2000) study, an independent child psychiatrist found that in 22 of the 23 cases the diagnosis made using videocon­
ferencing was clinically the same as the diagnosis made face-to-face. In the one case in which it differed, the two psychiatrists reversed
the primary and concurrent diagnoses. Similarly, in Stalker et al. (2006) study, diagnoses made on seven children evaluated in a
telegenetic clinic were confirmed in the traditional genetics clinic. No new diagnoses were made face-to-face that had not been
identified via videoconferencing and no diagnoses made via telehealth were judged to be incorrect when the child was evaluated
face-to-face.

3.4. Feasibility and acceptability of telehealth technologies to facilitate a diagnosis

Three studies reported on feasibility (Dharmar et al., 2016; Elford et al., 2000; Myers et al., 2007), or whether telehealth methods
used to facilitate a diagnosis for children with developmental concerns actually met the needs of the child and could be realistically
conducted. Across the three studies, high levels of feasibility in using telehealth methods to facilitate a diagnosis was reported by
families and providers. Dharmar et al. (2016) study found that it was feasible to conduct a high-quality infant audiologic diagnostic
evaluation via telehealth. Parents and providers scored the quality of the visual image, audio, and overall consultation experience at
almost 6 or more points on a 7-point Likert scale. Myers et al. (2007) study more informally concluded that high feasibility was
demonstrated by the demographic, clinical, and utilization profiles of their telepsychiatry service. Lastly, Elford et al. (2000) study
evaluated the feasibility of conducting psychiatric assessments using telehealth-based methods. Overall, psychiatrists indicated that
videoconferencing was an adequate alternative to face-to-face methods and did not interfere with a diagnosis. However, suggestions to
improve feasibility included devising protocols to deal with equipment failures. One psychiatrist reported that although the telehealth
system was feasible to implement, it created more of an impersonal atmosphere than face-to-face methods when interacting with the
child.
Six studies reported on acceptability (Dharmar et al., 2016; Elford et al., 2000; Mena et al., 2020; Myers et al., 2007, 2008; Stalker
et al., 2006; Yellowlees et al., 2008a) or satisfaction with using telehealth methods to facilitate a diagnosis for children with devel­
opmental concerns. Across the six studies, overall high levels of satisfaction were reported by providers and families, yet some nuanced
differences were found when surveying different types of providers and specialists. Studies which included telehealth methods to
facilitate a psychiatric diagnosis for children with suspected mental health/social-emotional concerns found that overall providers
endorsed high levels of satisfaction with tele-psychiatric diagnostic care, indicating high acceptability. Nonetheless, pediatricians were
more satisfied than family physicians, suggesting that physicians felt that their patients needed more than telepsychiatry could provide
(Myers et al., 2007). Tele-psychiatrists in Elford et al. (2000) study felt that although the videoconferencing system did not hinder their
ability in making a diagnosis, they showed a preference for face-to-face assessments and indicated that some problems with sound
quality occurred using the videoconferencing system. Yet, more informal feedback through anecdotal reports in Yellowlees et al.
(2008a) study indicated a high level of satisfaction and a significant perceived benefit for telepsychiatry diagnostic services among
rural providers. Similarly, in Stalker et al. (2006) study informal feedback from all clinicians indicated a high level of comfort with the
security, efficiency, and diagnostic abilities of the telehealth clinic.
Parents also endorsed high levels of satisfaction with using telehealth methods to facilitate a diagnosis for their child. Parents in
Dharmar et al. (2016) study, who completed a tele-audiology survey (7-point Likert scale), indicated that they were comfortable
discussing hearing status via telehealth methods and endorsed high levels of satisfaction (score of 7). Similar results were found in
Myers et al. (2008) study, in which parents endorsed high satisfaction with their child’s telepsychiatric diagnostic care. In Elford et al.

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(2000) study, parents indicated a preference in using the videoconferencing system, rather than traveling long distances to see a
psychiatrist in-person. However, parents also endorsed that face-to-face methods are more personal and it may be easier to talk to the
psychiatrist face-to-face than via videoconferencing technology. For the studies which used telehealth methods to facilitate a diagnosis
of a genetic syndrome(s), high levels of satisfaction with the security, efficiency, and diagnostic skills of the telehealth clinic was
indicated through informal feedback from all families (Mena et al., 2020). Stalker et al. (2006) study included a satisfaction survey
asking families to evaluate their experiences in the telegenetics clinic using a 5-point Likert scale. All either strongly agreed or agreed
that the evaluation of their child was appropriate, sufficient, and sufficiently protective of their child’s privacy.

3.5. Methodological quality assessment

Study methods and designs were wide ranging and included pilot case series studies, observational prospective cohort studies,
naturalistic observational pilot studies, pilot cross-sectional studies, retrospective studies, and observational case series studies. Out of
the nine studies, eight were rated as fair quality (Benoit et al., 2002; Douzgou et al., 2014; Elford et al., 2000; Mena et al., 2020; Myers
et al., 2007, 2008; Stalker et al., 2006; Yellowlees et al., 2008a; Smith et al., 2020) and one was rated as good quality (Dharmar et al.,
2016). Myers et al. (2007, 2008) studies were collapsed as one study as it included the same population and same diagnostic outcomes.
However, Myers et al. (2008) study included outcomes on parent satisfaction whereas Myers et al. (2007) study included outcomes on
provider satisfaction. Issues with some of the studies included no justifications provided for sample size, a lack of information about
whether potential confounding variables were adjusted for, and ambiguity in how measures were defined (see S1 Table).

4. Discussion

The goal of this systematic review was to investigate telediagnostic assessments for a range of developmental concerns, extending
beyond telediagnostic assessments of ASD (e.g., Alfuraydan et al., 2020). This systematic review aimed to determine the scope of
developmental domains assessed, including whether multidisciplinary assessments were conducted, and examined the feasibility,
accuracy, and acceptability of using telehealth methods to facilitate a diagnosis for children with developmental concerns. Of the nine
studies which met inclusion, children included those with suspected fetal alcohol syndrome (FAS) or suspected alcohol-related neu­
rodevelopmental disorder (Benoit et al., 2002), infants who did not pass their newborn hearing screen (speech and language concerns;
Dharmar et al., 2016), children with suspected genetic syndromes and related conditions associated with physical, growth, and
developmental problems (Douzgou et al., 2014; Mena et al., 2020; Stalker et al., 2006; Smith et al., 2020), and children with suspected
mental health/social-emotional concerns (Elford et al., 2000; Myers et al., 2007, 2008; Yellowlees et al., 2008a). The results of our
systematic review suggest that telehealth methods used to facilitate a diagnosis for children with developmental concerns covered a
few developmental domains: psychopathology, genetics, and hearing (speech and language concerns). Only one study covered mul­
tiple developmental domains. Overall, families and providers reported high levels of feasibility and acceptability in the use of tele­
health methods to facilitate a diagnosis. Most of the studies had fair methodological quality. Future high-quality studies with larger
sample sizes covering a wider range of developmental domains and inclusion of multidisciplinary diagnostic assessments are
warranted.

4.1. Diagnostic accuracy, feasibility, and acceptability

Out of nine studies, only two reported on diagnostic accuracy (Elford et al., 2000; Stalker et al., 2006). Although these studies found
high diagnostic accuracy when comparing face-to-face and telehealth-based diagnostic methods, more research on diagnostic accuracy
outcomes is needed using high-quality study designs (e.g., Chassé & Fergusson, 2019). Inclusion of diagnostic accuracy outcomes is
essential in providing the evidence necessary for clinicians and other healthcare professionals to make informed decisions about using
telediagnostic assessments in practice, to ensure all providers are appropriately trained in telehealth delivery, and to determine
whether technical quality influences diagnostic accuracy between telehealth and in-person services (Bashshur et al., 2000; Wallis et al.,
2021; Zhang et al., 2022).
Similarly, few studies reported on feasibility of telehealth methods in the facilitation of a diagnosis for children with developmental
concerns (Dharmar et al., 2016; Elford et al., 2000; Myers et al., 2007). However, across the three studies, high levels of feasibility were
reported by both families and providers. A few studies examining provider satisfaction revealed suggestions for ways to improve the
feasibility of telehealth technologies. For example, in Elford et al. (2000) study, tele-psychiatrists indicated that devising protocols
such as troubleshooting tips for equipment failures when using the videoconferencing equipment can more readily assist in the de­
livery of the assessment. Tele-psychiatrists also suggested the implementation of additional cameras to increase feasibility when
children are moving about the room. More research studies should include feasibility and diagnostic accuracy outcomes, which is
critically important in identifying whether modifications should be made in how the telecommunication technologies are setup, the
areas of interest they are capturing, and their overall quality (e.g., visual, sound; Fatehi et al., 2017; Stavropoulos et al., 2022).
A majority of the included studies reported on acceptability and satisfaction with using telehealth methods to facilitate a diagnosis
for children with developmental concerns (Dharmar et al., 2016; Elford et al., 2000; Mena et al., 2020; Myers et al., 2007, 2008; Stalker
et al., 2006; Yellowlees et al., 2008a). Overall high levels of satisfaction were reported by providers and families. However, subtle
differences in provider satisfaction were found based on the type of provider (e.g., family physician vs pediatrician). Future research
studies should examine factors which may be contributing to differences in satisfaction when using telediagnostic services based on the
type of health care provider. Additionally, some families reported that face-to-face methods were more personal and made it easier to

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converse with the provider than via videoconferencing technology. Strategies such as rapport building techniques (e.g., Glueck et al.,
2013) should be explored to assist in making the provider-client-family interaction more personable when using telehealth methods.

4.2. Situating current systematic review within telediagnostic literature

The findings of the current systematic review can be placed in the context of prior reviews which examined telehealth methods to
facilitate a diagnostic assessment for ASD (e.g., Alfuraydan et al., 2020) and aimed to better understand the accuracy, social validity,
and feasibility of using telehealth to diagnose ASD (e.g., Stavropoulos et al., 2022). Similar to the findings of the current systematic
review, Alfuraydan et al. (2020) scoping review, which included 10 studies, revealed that real-time and store-and-forward telehealth
methods were acceptable to families and clinicians and had good diagnostic accuracy. Similarly, Stavropoulos et al. (2022) scoping
review, which also included 10 studies, demonstrated that telehealth methods to diagnose ASD had high accuracy (80–91%) when
compared to an in-person diagnosis, high feasibility, and caregivers and providers were mostly satisfied with telehealth, suggestive of
acceptable social validity. Nonetheless, given the small number of studies included across these reviews, more research is needed.
Importantly, additional aspects of telehealth for the purpose of facilitating a diagnostic assessment can be further improved to
support client-provider rapport and to ensure technology issues are resolved to enhance diagnostic accuracy. Providers indicated
rapport being more challenging to establish via telehealth than in-person and minor technology issues were reported with video and/or
audio quality (e.g., Stavropoulos et al., 2022). This included time delays due to video connections, low audio volume, lighting issues
which could interfere with accuracy, and/or lack of an unobstructed view of the child. Additionally, across Stavropoulos et al. (2022)
scoping review and our current systematic review, which included information on sample characteristics, few studies provided data on
their samples socioeconomic status (SES), race, or type of community (e.g., rural). For example, of the 10 studies included in Stav­
ropoulos et al. (2022) scoping review, only two studies provided data on SES status. Full reporting on sample characteristics is essential
in addressing whether telehealth can bridge diagnostic disparities.
However, findings from this systematic review highlight the potential of telehealth methods to facilitate a diagnosis for children
with developmental concerns as demonstrated by high diagnostic accuracy, feasibility, and acceptability reported by providers and
families. Children with suspected FAS or suspected alcohol-related neurodevelopmental disorder, infants who did not pass their
newborn hearing screen (speech and language concerns), children with suspected genetic syndromes and related conditions associated
with physical, growth, and developmental problems, and children with suspected mental health/social-emotional concerns, who may
reside in remote locations with limited specialty input, can receive a timely diagnostic evaluation from specialists to accelerate the
pathway to intervention and/or treatment services to maximize developmental outcomes.

4.3. Collaborative partnership models

Our systematic review emphasizes the importance of PCPs and specialists engaging in partnership models of care. Collaborative
partnerships between PCPs and tele-specialists (e.g., geneticists, psychiatrists, audiologists) aided in obtaining a timely diagnosis (e.g.,
Mena et al., 2020; Myers et al., 2007, 2008; Stalker et al., 2006; Yellowlees et al., 2008a). Such models are essential for families who
reside in remote areas without access to specialty services (e.g., Hilgart et al., 2012). Initiatives such as the Physician Assistance,
Consultation and Training Network (PACT Net) help PCPs in managing patients with developmental delays and disabilities who have
potential genetic conditions. PACT Net connects PCPs with specialists via teleconsultations (Hilty et al., 2004). Initiatives such as PACT
Net underscore the importance of ensuring children are receiving specialty input and high-quality care. To further assist in providing
high-quality care, practitioners must follow best practices to ensure the protection of health information (e.g., McSwain et al., 2017).
This includes an awareness of potential concerns regarding privacy and confidentiality when technological devices are used in public
or outside the confines of healthcare systems (Coieraet al., 2016; Dart et al., 2016; Fleming et al., 2009; Gogia et al., 2016; Hale &
Kvedar, 2014). More comprehensive and detailed regulations and standards need to be established to ensure privacy and security
protections when using telehealth systems (e.g., Hall & McGraw, 2014; Watzlaf et al., 2017).
Given continued advancements in technology and the use of partnership-based models of care, we anticipate seeing a growth in the
use of telediagnostic services for children with developmental concerns, including those with suspected genetic syndromes. Telehealth
service delivery can open the door for multidisciplinary teams spanning a range of disciplines, housed in different locations, to consult
on multifaceted cases to provide timely diagnostic services and desired resources (e.g., Herendeen & Schaefer, 2009). This reduces the
need of families having to travel to multiple locations to obtain a variety of specialty services, which creates delays in receiving
important and timely intervention and/or treatment services to optimize development.

4.4. Limitations and future directions

Despite the findings, the included studies did not have full reporting of participant demographic information. Such information is
essential in addressing additional barriers in service provision (e.g., Guerrero et al., 2011). Previous work has found significant racial
and ethnic disparities in the quality of healthcare among children with developmental disabilities (e.g., Magaña et al., 2012).
Reporting demographic information can assist in determining whether telehealth may improve this barrier (e.g., Yellowlees et al.,
2008b). Only one study met criteria for being of good quality. High quality studies are needed prior to making definitive conclusions.
The included studies did not have rigorous methodological designs and had small sample sizes. Only articles that were published or
written in English were included. Additionally, although our age inclusion was 0–5 years, we also included studies that contained a
subset of children older than 5 years, if the study also included a subset of children 0–5 years. This approach influences the

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generalizability of the synthesized findings to certain age groups of children. Only two of the included studies reported information on
diagnostic accuracy. Such information is essential to determine whether modifications need to be made when using telecommuni­
cation technologies.
Although this review was a preliminary step in describing what the diagnostic process entailed via telehealth methods for children
with developmental concerns, future studies should examine how the diagnosis is specifically relayed to families using communication
technologies following a telediagnostic evaluation and how this may influence the relationship quality (e.g., Goldstein & Glueck, 2016)
between the family, PCP, and specialist(s). Our findings also suggest a need for more research on comprehensive multidisciplinary
assessments covering a broader range of domains (e.g., daily living skills, fine/gross motor) for children with developmental concerns.
Such research is of critical importance to provide a stronger empirical base for providers who are using telediagnostic services across a
range of developmental domains. Lastly, findings suggest that much of this research has been conducted outside of the home setting.
Given the COVID-19 pandemic, there will be a shift in more telehealth-based studies occurring in the home (e.g., Krach et al., 2020;
Wagner et al., 2021b). Researchers need to consider additional factors including families access to and prior experience using
communication technologies, how to navigate the larger family system during the assessment process, and approaches to address
environmental arrangement to manage potential distractors which may impact the quality of the assessment. Future reviews should
address diagnostic accuracy, acceptability, and feasibility of implementing telediagnostic evaluations in the home setting for children
with developmental concerns.

4.5. Conclusion

The current evidence concerning the use of telehealth for facilitating a diagnosis for children with developmental concerns suggests
that telehealth methods are feasible and acceptable to providers and families. Telehealth systems allow for families residing in remote
locations to receive access to timely clinical expertise and specialty input, but additional research is warranted.

What this systematic review adds?

Although prior reviews (e.g., Alfuraydan et al., 2020; Stavropoulos et al., 2022) enhanced our understanding of the use of tele­
health to facilitate a diagnostic assessment for autism spectrum disorder (ASD), there is a critical need to further examine tele­
diagnostic assessments for a range of developmental concerns, extending beyond telediagnostic assessments of ASD. This includes how
telehealth methods are used to facilitate a diagnosis for children with suspected fetal alcohol syndrome (FAS) or suspected
alcohol-related neurodevelopmental disorder, children who did not pass their hearing screen (speech and language concerns), children
with suspected genetic syndromes associated with physical, growth, and developmental problems, and children with suspected mental
health/social-emotional concerns. This systematic review will investigate children with developmental concerns to 1) lend insights
into whether multidisciplinary diagnostic evaluations (e.g., genetics, motor) are conducted using telehealth methods; 2) identify the
range of developmental domains assessed using telediagnostic services; 3) provide evidence about the diagnostic accuracy, feasibility,
and acceptability of using telehealth methods to facilitate a diagnosis; and 4) evaluate the methodological quality of telediagnostic
studies.

Funding

This research did not receive any specific grant from funding agencies in the commercial, public, or not-for-profit sectors.

CRediT authorship contribution statement

Chelsea La Valle: Conceptualization, Methodology, Validation, Formal analysis, Investigation, Writing – original draft, Writing –
review & editing, Visualization, Data curation, Supervision, Project administration. Emily Johnston: Methodology, Inter-rater reli­
ability coder, Validation. Helen Tager-Flusberg: Conceptualization, Validation, Writing – review & editing, Supervision. We would
like to thank Dr. Kimberly Saudino and Dr. Kristin Long for their initial feedback on this review as well as the Boston University li­
brarians for providing consultation and advice on conducting systematic reviews.

Declaration of interest

None.

Appendix A. Supporting information

Supplementary data associated with this article can be found in the online version at doi:10.1016/j.ridd.2022.104269.

Appendix B

See Appendix Table 3 and Table 4.

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C. La Valle et al. Research in Developmental Disabilities 127 (2022) 104269

Table 3
PRISMA checklist.
Section/Topic Number Checklist item Reported on page number

Title
Title 1 Identify the report as a systematic review, meta-analysis, or both. 1
Abstract
Structured summary 2 Provide a structured summary including, as applicable: 1
background; objectives; data sources; study eligibility criteria,
participants, and interventions; study appraisal and synthesis
methods; results; limitations; conclusions and implications of key
findings; systematic review registration number.
Introduction
Rationale 3 Describe the rationale for the review in the context of what is 2–3
already known.
Objectives 4 Provide an explicit statement of questions being addressed with 5
reference to participants, interventions, comparisons, outcomes,
and study design (PICOS).
Methods
Protocol and 5 Indicate if a review protocol exists, if and where it can be accessed PROSPERO 2021 CRD42021229068 https://www.crd.
registration (e.g., Web address), and, if available, provide registration york.ac.uk/prospero/display_record.php?
information including registration number. ID=CRD42021229068
Eligibility criteria 6 Specify study characteristics (e.g., PICOS, length of follow-up) and 6–7
report characteristics (e.g., years considered, language,
publication status) used as criteria for eligibility, giving rationale.
Information sources 7 Describe all information sources (e.g., databases with dates of 5–6
coverage, contact with study authors to identify additional studies)
in the search and date last searched.
Search 8 Present full electronic search strategy for at least one database, 6 (Box 1)
including any limits used, such that it could be repeated.
Study selection 9 State the process for selecting studies (i.e., screening, eligibility, 7–8;Fig. 1
included in systematic review, and, if applicable, included in the
meta-analysis).
Data collection 10 Describe method of data extraction from reports (e.g., piloted 7
process forms, independently, in duplicate) and any processes for
obtaining and confirming data from investigators.
Data items 11 List and define all variables for which data were sought (e.g., Appendix Table 4
PICOS, funding sources) and any assumptions and simplifications
made.
Risk of bias in 12 Describe methods used for assessing risk of bias of individual N/A
individual studies (including specification of whether this was done at the
studies study or outcome level), and how this information is to be used in
any data synthesis.
Summary measures 13 State the principal summary measures (e.g., risk ratio, difference in N/A
means).
Synthesis of results 14 Describe the methods of handling data and combining results of N/A
studies, if done, including measures of consistency (e.g., I 2) for
each meta-analysis.
Risk of bias across 15 Specify any assessment of risk of bias that may affect the N/A
studies cumulative evidence (e.g., publication bias, selective reporting
within studies).
Additional analyses 16 Describe methods of additional analyses (e.g., sensitivity or N/A
subgroup analyses, meta-regression), if done, indicating which
were pre-specified.
Results
Study selection 17 Give numbers of studies screened, assessed for eligibility, and Fig. 1
included in the review, with reasons for exclusions at each stage,
ideally with a flow diagram.
Study 18 For each study, present characteristics for which data were 9–15;Table 1 & 2
characteristics extracted (e.g., study size, PICOS, follow-up period) and provide
the citations
Risk of bias within 19 Present data on risk of bias of each study and, if available, any N/A
studies outcome-level assessment (see Item 12).
Results of individual 20 For all outcomes considered (benefits or harms), present, for each N/A
studies study: (a) simple summary data for each intervention group and
(b) effect estimates and confidence intervals, ideally with a forest
plot.
Synthesis of results 21 Present results of each meta-analysis done, including confidence N/A
intervals and measures of consistency.
Risk of bias across 22 Present results of any assessment of risk of bias across studies (see N/A
studies Item 15).
Additional analysis 23 N/A
(continued on next page)

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Table 3 (continued )
Section/Topic Number Checklist item Reported on page number

Give results of additional analyses, if done (e.g., sensitivity or

subgroup analyses, meta-regression [see Item 16]).
Discussion
Summary of 24 Summarize the main findings including the strength of evidence 9–15; 19–22
evidence for each main outcome; consider their relevance to key groups (e.
g., health care providers, users, and policy makers).
Limitations 25–26 Discuss limitations at study and outcome level (e.g., risk of bias), 23
and at review level (e.g., incomplete retrieval of identified
research, reporting bias).
Conclusions 26 Provide a general interpretation of the results in the context of 24
other evidence, and implications for future research.
Funding
Funding 27 Describe sources of funding for the systematic review and other Title pg.
support (e.g., supply of data); role of funders for the systematic
review

Table 4
Definitions for each coding variable.
Study Characteristic Operational Definitions

Country Location where telediagnostic service was conducted

Research Design Description of methodology about study design details (e.g., cross-sectional, longitudinal, case series study, prospective cohort
pilot study)
Setting Type of site (clinic, medical center/hospital, home, and/or school) where telediagnostic service was provided
Sample Size (N) Number of participants who received telediagnostic service
Age Chronological age of participants
Gender Gender composition of participants (e.g., female)
Participants Description of suspected condition(s) of participants that were associated with developmental concerns (concerns in speech,
language, cognition, motor, social/emotional, and/or personal/daily living skills)
Type of Evaluation Description of diagnostic evaluation: physical, dysmorphology, developmental, neurological, feeding, and/or psychiatric and
specific domain it assessed (e.g., physical, motor, speech, language, genetics, cognition, genetics, social/emotional, daily living
skills)
Telehealth Technology Type of technology that was used to conduct the telediagnostic evaluation (videoconferencing in real-time; uploading videos for
later review by a provider using store-and-forward methods)
Tele-Diagnosis Diagnosis provided via telehealth methods
Diagnostic Accuracy Accuracy of tele-diagnosis compared to an in-person diagnosis
Feasibility Extent telehealth can be realistically conducted (e.g., feasibility reported by stakeholders)
Satisfaction (Acceptability) Extent telehealth was viewed as important and adequate in the context of diagnostic services (e.g., feedback by stakeholders)

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