Telehealth and healthcare access for individuals with Down syndrome: a systematic review of opportunities and barriers

Abstract

Background

People with Down syndrome (DS) face significant barriers in accessing healthcare. Telehealth, defined as the delivery of healthcare services through direct clinical interaction using telecommunications technologies such as videoconferencing, telephone, or remote monitoring, has emerged as a potential strategy to improve accessibility and quality of care. This systematic review synthesizes evidence on the impact of telehealth interventions on healthcare access for individuals with DS.

Methods

We conducted a systematic review of studies evaluating telehealth interventions for people with DS. Four databases (PubMed, Scopus, Web of Science Core Collection, and Google Scholar) were searched from inception to May 31, 2025. Eligible studies included interventions involving direct remote clinical care (e.g., videoconferencing, telephone, telemonitoring). Screening and data extraction were performed independently by two reviewers, with disagreements resolved by a third reviewer.

Results

Of 332 records screened after duplicate removal, 53 full-text articles were reviewed and 39 were included. Interventions ranged from teleconsultations to remote monitoring and mobile applications. Findings suggested potential improvements in healthcare access, clinical outcomes, and satisfaction. However, most studies were small in sample size, varied in design, and more than half had a moderate risk of bias.

Conclusions

Telehealth shows promise in improving access to healthcare for people with DS, but current evidence is limited by methodological weaknesses and heterogeneity. Future research should focus on larger, high-quality studies to clarify long-term impacts and inform implementation strategies.

Supplementary Information

The online version contains supplementary material available at 10.1186/s12913-026-14374-9.

Introduction

Down syndrome (DS) is the most common chromosomal disorder associated with intellectual disability, affecting nearly 1 in every 1,000 births [1]. DS is associated with distinctive medical, developmental, and social challenges that warrant focused attention rather than combining this group with broader intellectual and developmental disabilities. People with DS typically experience mild to moderate cognitive impairment and face elevated risks for a range of health conditions, including early-onset Alzheimer’s disease [2], thyroid dysfunction, respiratory and hearing problems, and congenital heart defects [3]. Developmentally, individuals with DS show a unique cognitive profile marked by relative strengths in visual processing but significant weaknesses in expressive language and verbal short-term memory, which shape both educational and therapeutic needs. Socially, families of individuals with DS often encounter specific caregiving demands, such as intensive coordination of multispecialty care and support for transitions across the lifespan, that differ in scope and complexity from those faced by families of individuals with other intellectual disabilities. These combined features create distinctive healthcare challenges and necessitate tailored approaches that cannot be fully understood by extrapolating from studies on intellectual disability in general. Although they require more medical attention than most, families face significant challenges in navigating the health system to get the care they need [4, 5].

Families with DS may find it particularly difficult to get to doctors’ appointments. Especially in rural areas, many of these families live far from the experts. Families rely on carers to get them to meetings, as most individuals with DS cannot drive themselves. Communication may also be difficult during medical visits, as doctors may find it difficult to understand the needs of patients due to speech difficulties and differences in intellectual capacity. Many health professionals are simply not prepared to deal with people with intellectual disabilities, which may lead to inadequate care or to inaccurate diagnoses. All these barriers lead to missed preventive care, delayed treatment, and ultimately poorer health outcomes [4]. These complex care coordination needs have led to calls for new tools, such as mobile health (mHealth) applications, to support caregivers [5].

Many of these problems could be addressed by telehealth technologies. For this review, telehealth was defined as the delivery of healthcare services and clinical information via telecommunications technologies, including videoconferencing, telephone consultations, and remote monitoring. Mobile and web-based applications were included only when they involved direct clinical interaction, rather than general digital health promotion. Telehealth could ease the burden of travel and facilitate care by enabling a wide range of remote services. Research has explored telehealth interventions for physical exercise and motor skills [6, 7], early speech and language development [8], parent-implemented vocabulary training [9], and weight management [10]. Furthermore, mHealth applications have been specifically designed to support family adaptation and care coordination [11, 12]. However, there are some major concerns regarding telehealth, including questions of whether clinicians can perform effective remote assessments, the usability of technology for individuals with DS [13], and whether families have the resources and reliable internet access needed to participate. However, telehealth may also exacerbate existing inequities when individuals lack reliable internet access, digital literacy, assistive technologies, or caregiver support. These barriers may disproportionately affect people living with disabilities, including individuals with Down syndrome.

The COVID-19 pandemic has led to a faster uptake of telehealth by healthcare systems, testing the effectiveness of remote care for a wide range of populations [14]. The impact of the pandemic on the health of people with DS was a significant concern for families and clinicians [15]. This rapid transition to virtual clinics yielded mixed results; while some families found telehealth useful to reduce stress and improve access to care, others struggled with technology and the limitations of remote physical examinations [14, 15]. Research in this area is fragmented and dispersed. Although telehealth for to people living with disabilities is becoming more popular, no closer look has been given to how it works for people with DS. Most studies either covered intellectual disabilities in general [10] or focused on specific medical applications, such as proactive speech interventions [8], exercise programs [6], or care coordination apps [5].

This review aimed to synthesize evidence on telehealth for people with DS, with particular attention to changes in healthcare access and utilization, its impact on health outcomes and quality of care, and the barriers and facilitators that influence its implementation. This review addresses three main questions: whether telehealth improves healthcare access and utilization for people with DS, how it affects health outcomes and quality of care, and what barriers and facilitators influence its employment. By synthesizing the available evidence, this review aims to provide a balanced understanding of the potential benefits and limitations of telehealth for people with DS, their families, and healthcare professionals.

Method

This review was conducted in accordance with the PRISMA 2020 [16] guidelines; the protocol was registered in PROSPERO (Registration ID: CRD420251081924).

Search strategy

A comprehensive literature search was conducted from database inception until May 31, 2025, across four electronic databases: PubMed/MEDLINE, Scopus, Web of Science Core Collection, and Google Scholar. Medical Subject Headings (MeSH) terms and relevant keywords were used to refine the search strategy, which was developed in consultation with a medical librarian. To optimize the formulation of search queries, ChatGPT (OpenAI, San Francisco, CA, USA) was used to suggest alternative keywords and synonyms. The search strategy combined terms for Down syndrome (e.g., “Down Syndrome,” “Trisomy 21”) and telehealth-related concepts (e.g., “telemedicine,” “remote consultation,” “videoconferencing,” “mHealth,” “eHealth”). Full search strategies for each database, including all keywords, MeSH terms, and the number of records retrieved, are provided in the Supplementary Material.

Inclusion & exclusion criteria

Studies were eligible if they involved people with Down syndrome (Trisomy 21) of any age, in any setting. Eligible interventions included telehealth or telemedicine approaches that involved direct clinical interaction, such as videoconferencing, telephone consultations, telemonitoring, telerehabilitation, and remote therapy sessions. Mobile and web-based applications were considered only if they delivered clinical care or facilitated direct communication between healthcare providers and patients. The primary outcomes of interest were clinical, behavioral, or functional improvements, while secondary outcomes included user satisfaction, cost-effectiveness, adverse events, and feasibility. Eligible study designs included randomized controlled trials, quasi-experimental studies, cohort studies, and case-control studies. Only English-language publications involving human participants were included. Excluded studies were systematic, narrative, or scoping reviews; genetic testing or diagnostic-only studies; animal studies; conference abstracts and editorials; and studies with restricted or inaccessible full text.

Study selection process

Rayyan (Rayyan Systems Inc., Cambridge, MA, USA), a web-based systematic review management tool, was used to manage records and facilitate blinded screening by multiple reviewers (Ouzzani et al., 2016). Three reviewers (AP, EM and SK) independently checked all retrieved records against eligibility requirements during phase 1’s title and abstract screening. The same three reviewers conducted a full-text screening of potentially eligible studies in phase 2, documenting the specific reasons for exclusion. To make screening easier, predefined keywords were created for inclusion (“Down syndrome,” “telemedicine,” “telehealth”) and exclusion (“review,” “screening,” “fetal,” “survey”). In virtual meetings using Google Meet, disagreements were settled by consensus discussion.

Data extraction & analysis

A standardized data extraction form was created and piloted before full implementation. Using Microsoft Excel spreadsheets, three reviewers (AP, SK, and EM) independently extracted data, and one reviewer verified each data point after extraction. Extracted data included study characteristics (author, year, country, study design, duration), participant characteristics (sample size, age range, severity of Down syndrome, comorbidities), intervention details (type, duration, frequency, delivery method), comparator details, outcome measures (primary and secondary outcomes, measurement tools, follow-up periods), and results (quantitative and qualitative findings, effect sizes). To ensure accuracy and completeness, all extraction forms were double-checked. When data were missing or unclear, study authors were contacted by email (up to two reminders). Data synthesis was descriptive; study characteristics were tabulated and grouped by age range, geographic distribution, type of intervention, telehealth delivery method, and outcomes assessed. A meta-analysis was not conducted due to substantial heterogeneity in study designs, populations, intervention types, and outcome measures; therefore, results were synthesized narratively in accordance with PRISMA guidance for systematic reviews without meta-analysis.

Telehealth modalities were categorized according to core components of the TiDier framework, including provider, delivery mode, setting, session frequency, and tailoring. Access-related outcomes were defined using the RE-AIM framework as the extent to which participants could obtain, initiate, and sustain engagement with telehealth services, rather than simple rates of use. We focused on video-, mobile-, and platform-based interventions because these represent structured telehealth delivery systems clinically relevant to Down syndrome care, whereas unstructured web content or general mobile browsing do not constitute formal interventions.

Quality assessment

The methodological quality and risk of bias of the included studies were assessed according to their study design. The following tools were used: the Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2) for diagnostic accuracy studies (Whiting et al., 2011); the Risk of Bias 2 (RoB 2) tool for randomized controlled trials (Sterne et al., 2019); the Joanna Briggs Institute (JBI) Checklist for Qualitative Research for qualitative studies (JBI, 2017); the JBI Checklist for Cohort Studies for cohort studies (JBI, 2017); the JBI Checklist for Quasi-Experimental Studies for quasi-experimental designs (JBI, 2017); and the Mixed Methods Appraisal Tool (MMAT, 2018) for mixed-methods studies (Hong et al., 2018). Two reviewers (AP and SK) independently assessed each study, assigning “Yes,” “No,” “Unclear,” or “Not applicable” to each criterion. Discrepancies were resolved through discussion with a third reviewer (EM). Based on the proportion of criteria satisfied, each study was classified as having a low, moderate, or high risk of bias.

Results

Search output

A total of 406 potentially relevant records were identified from four databases (PubMed, Scopus, Web of Science Core Collection, and Google Scholar). After removal of 74 duplicates, 332 records were screened by title and abstract; 279 were excluded due to low relevance or limited access to the full text. 53 full-text articles were assessed for eligibility; 14 were excluded due to insufficient methodological detail for quality assessment. In total, 39 studies met the inclusion criteria and were included in this review. The study selection process is illustrated in the PRISMA 2020 flow diagram (Fig. 1). Table 1 provides a detailed summary of the key characteristics of all 39 included studies.

Fig. 1.

PRISMA 2020 flow diagram of study selection. Numbers indicate records identified, duplicates removed, records screened, full-text assessed (reasons for exclusion), and included studies (n = 39)

Table 1.

Characteristics of included studies

Authors	Year	Country	Study Design	Age Range (years)	Sample Size	Study Duration (months)	Type of telehealth / Intervention	Technology Platform	Key Outcome	Overall risk of bias/tool
Beate Peter, et al.	2025	USA	RCT	0.5–1.5	10	10	Speech/Language Therapy	video conference	High implementation fidelity	Moderate/JBI
T. Hilgenkamp, et al.	2024	USA	Clinical trial	18–35	18	3	Exercise Program	zoom	increase the health condition	Moderate/JBI
Kristina Guerrero, et al.	2023	USA	Clinical Trial	19–34	18	3	Exercise Program	zoom	increase the health condition	Moderate/JBI
Jeanhee Chung, et al.	2021	USA	RCT	1–57	230	7	self-efficacy	website	Improved self-efficacy in managing child health	Low/RoB 2
Erika M. Timpe, et al.	2021	USA	Mixed Methods	3–5	12	6	communication skills	video conference	Improvements in motor skills	Moderate/JBI
Beth Cosgrove, et al.	2023	USA	Mixed Methods	0.5–14	90	NM	Centralizing health information	mHealth apps	Simple and related to daily life	Low/MMAT
Hyunkyung Choi, et al.	2020	South Korea	Feasibility Pilot Study	0–5	16	6	intervention for family adaptation	mHealth app	reduced difficulties in managing their child’s condition	Moderate/JBI
Martijn Van Dooren, et al.	2023	Belgium	Mixed Methods	11–33	8	0.5-1	psychosocial support	mHealth app	facilitated conversation	Low/MMAT
La Valle, et al.	2025	USA	Quantitative Study	1–4	23	6–12	distance learning	remote meeting	Improved learning skills	Low/QUADAS-2
Bridgette L. Kelleher, et al.	202 0	USA	Cohort	0.5–1.5	16	0.5	PANDA box	commercially available platforms	Improved caregivers’ ability	Low/QUADAS-2
S. Çelik, et al.	2022	Turkey	Mixed Methods	1–3	11	NM	online remote coaching	Video conference	Behavioral Improvements	Moderate/JBI
H. Luna-Garcia, et al.	2018	Mexico	Observational Study	12–20	24	6	gesture interaction	mHealth apps	More simple apps for users	Moderate/JBI
Ayat Siddiqui, et al.	2021	Pakistan	Observational Study	All ages	307	12	Tablet-based web interface	telephone call/zoom	health related quality of life	Moderate/JBI
Henriette Michalsen, et al.	2020	Norway	RCT	16–60	60	3–6	mHealth support	phone apps	physical activity is effective for DS	Low/RoB 2
Stephanie L. Santoro, et al.	2021	USA	Retrospective observational Study	All ages	550	5	Virtual video visit	Zoom	Feasibility of virtual care	Low/JBI
Henriette Michalsen, et al.	2022	Norway	Mixed Methods Pilot Study	16–60	60	6	mHealth support	phone apps	improved physical activity	Low/MMAT
Julia de Souza Castilho, et al.	2022	Brazil	Survey	0–21	28	* 1 h	online telehealth	PEDI-CAT	Excellent interrater reliability	Low/QUADAS-2
Bethany Skelton Cosgrove, et al.	2021	USA	Mixed Methods	0–12	100	12	Support care coordination	smartphone/tablet	improved communication with providers	Moderate/MMAT
Al Majed Khan, et al.	2023	Scotland	RCT	16 − 21	112	1–3	Learning enhancement	mobile apps	improved independency	Low/QUADAS-2
Lazar, et al.	2018	USA	RCT	13–35	10	1–3	nutritional habits	mobile apps	improved nutritional habits	Moderate/MMAT
A. Mohammedi, et al.	2021	USA	RCT	>=16	6	1–3	Improving lifestyle	java, SQL	people with DS learn more about diet	Moderate/MMAT
Kayla Kotake, et al.	2023	USA	Pilot RCT	18–35	NM	3	Telehealth-Delivered training	NM	improved functional activities	Moderate/JBI
EricRubenstein, et al.	2023	USA	Longitudinal cohort study	>=18	4,481,641	108	NM	NM	Medicaid enrollment	Low/MMAT
Renata Martins Rosa, et al.	2023	Brazil	Quasi-experimental study	12–30	68	0.5	Home-based Telerehabilitation (Nintendo Wii)	Nintendo Wii Console	Physical engagement	Moderate/JBI
Sherif Adel Gaber, et al.	2024	Saudi Arabia	Quasi-experimental comparative study	8–12	18	4	virtual reality base training	General mention (VR)	Improvements in independence	Moderate/JBI
Lauren T. Ptomey, et al.	2023	USA	RCT	13–21	110	18	Remote delivers of diet	Facetime on iPads	Intervention fidelity	Moderate/JBI
L.T. Ptomey, et al.	2024	USA	RCT	*Adults	60	18	weight management	Video conferencing	Weight change	Low/RoB 2
Gemma Rey Otero, et al.	2024	Spain	Descriptive developmental study	0–6	4,536	71	Informational wan site	Online website	Website development	Low/RoB 2
Matteo Giuriato, et al.	2025	Italy	Pilot Study	9–17	18	4	Tele-Coaching for physical training	E-Gym platform	Physical health improvement	Low/MMAT
Alessandro Onofri, et al.	2021		Retrospective observational study	*Pediatrics	23	NM	Teleconsultation (TC)	General video/audio platforms	Equity concerns	Moderate/JBI
Lauren M. LeJeune, et al.	2022	USA	Mixed Methods	5–6	45	0.5-1	Tele-Education for parents	NM	investigated characteristics by intervention response	Low/JBI
Ezgi Ozalp Akin, et al.	2022	Turkey	Mixed Methods	1.5	236	NM	Telephone-based telehealth	Telephone calls	Applicability and satisfaction	Moderate/JBI
Asier Lopez-Basterretxea, et al.	2014	Spain	Retrospective observational study	12–15	12	3	Telemonitoring with serious games	IOS, HTML5, SQLite/MySQL	Technical success	Moderate/JBI
Anne Engler, et al.	2017	UK / Norway / Germany	Mixed Methods	NM	9	36	Assistive Technology (AT)	POSEIDON application	Increased Autonomy	Low/MMAT
Suren Abrahamyan, et al.	2016	Russia	Pilot Study	5–18	26	* 1 Day	application for communicating	Mobile apps	increased communication abilities	Low/MMAT
Annemarie Murphy, et al.	2023	Australia	Pilot Study	8–12	6	1.5	tele practice delivery of literacy intervention	zoom	improvement in reading comprehension	Moderate/JBI
EmmaJ. Walker, et al.	2024	USA	Mixed Methods	23–35	4	7–17	caregiver training via telehealth	zoom	increased duration of PAP usage	Moderate/JBI
ANDREA TURA, et al.	2005	Italy	Pilot Study	17	13	2	wireless home monitoring	portable, wireless devices, KARMA 2	improved communication	Low/JBI
Yusuf Akemoğlu, et al.	2022	USA	Case Study	3	3	7.5	parent training via tele practice	zoom	increased parent fidelity of strategy use	Moderate/JBI

NM: Not mentioned, RCT: Randomized controlled trials, VR: Virtual reality

Characteristics of the included studies

Publication and geographic distribution

The included studies were published between 2005 and 2025 (Fig. 2). Pilot studies accounted for 12 studies (30.8%), randomized clinical trials for 11 studies (28.2%), mixed-methods studies for 8 studies (20.5%), and observational studies for 11 studies (28.2%). Most studies used a before–after design (n = 24; 61.5%). Some studies involved hybrid designs, so categories were not mutually exclusive.

Fig. 2.

Distribution of included studies by year of publication (2005–2025)

Geographically, 18 studies (46.2%) originated from the United States. Four studies (10.3%) came from Europe (United Kingdom, Norway, Germany, Spain). Three studies (7.7%) were from Australia. Brazil and Turkey each contributed two studies (5.1%). Single studies (2.6% each) were reported from South Korea, Belgium, Mexico, Pakistan, Scotland, Saudi Arabia, Italy, and Russia (Fig. 3).

Fig. 3.

Geographic distribution of included studies (by country)

Technology platforms and delivery methods

Telehealth interventions used a range of platforms (Fig. 4). Video consultation technologies, including Zoom, Microsoft Teams, and FaceTime, were the most frequently reported and appeared in 16 studies (41%). Mobile health applications were used in 11 studies (28%). Telephone-based interventions were described in 5 studies (12%). Specialized healthcare platforms appeared in 6 studies (14%). Virtual-world environments or custom-developed tools designed for individuals with Down syndrome were reported in 2 studies (5%).

Fig. 4.

Distribution of clinical outcomes evaluated across the 39 studies, including family satisfaction, developmental milestones, motor skills, speech and language, healthcare accessibility, and cost effectiveness

Telehealth interventions most often targeted speech and language therapy (30.8%) and early intervention programs (20.5%). Motor-skills programs included structured exercise (17.9%) and posture or balance training (12.8%).

Participant characteristics and sample sizes

Sample sizes ranged from 3 to 123,024 participants, with a median of 23. Small samples (≤ 20 participants) were used in 22 studies (56.4%). Only four studies (10.3%) included more than 100 participants. Children aged 0–18 years were included in 18 studies (46.2%), adults aged 19–65 years in 12 studies (30.8%), and mixed-age samples in 9 studies (23.1%). Gender distribution was nearly equal (51.8% male, 48.2% female).

Outcomes and effectiveness

Effect sizes ranged from 0.2 to 1.4 across interventions. Speech and language therapies showed the strongest improvements (0.6–1.2). Motor-skills interventions showed moderate improvements (0.4–0.9). Healthcare-accessibility interventions showed smaller but consistent effects (0.7–0.9).

System usability ranged from 65% to 98%, with video platforms demonstrating higher usability (85–98%) than mobile apps (65–88%). Patient adherence ranged from 60% to 95%, and adherence improved when technical support was provided. Provider satisfaction ranged from 70% to 95%, with higher satisfaction among providers who received training.

Cost-effectiveness analyses were conducted in 8 studies (20.5%), and 7 of these (87.5%) reported cost savings of 25% to 70%.

Clinical domains and intervention types

Clinical outcomes were distributed across multiple domains (Fig. 5). Family satisfaction was assessed in approximately 24% of studies (n ≈ 9). Developmental milestones were evaluated in 20% of studies (n ≈ 8). Motor-skills outcomes were reported in 16% of studies (n ≈ 6). Speech and language outcomes were assessed in 13% of studies (n ≈ 5). Healthcare accessibility outcomes were examined in 18% of studies (n ≈ 7). Cost-effectiveness outcomes appeared in 9% of studies (n ≈ 4).

Fig. 5.

Delivery platforms used in the included telehealth interventions, including commercial video platforms, specialized healthcare systems, mobile apps, and custom-developed tools

Across studies, TiDier-relevant components such as provider type, delivery mechanism, and intervention setting were consistently reported, although fidelity assessment and tailoring were described less frequently. Access outcomes were measured through indicators such as enrollment numbers, session attendance, platform login rates, and caregiver-reported ease of connecting to the service. These measures reflected service reach and functional accessibility rather than mere technology availability.

Quality assessments

Quality assessment using design-appropriate instruments (QUADAS-2, RoB 2, JBI checklists and MMAT) was performed independently by two reviewers with disagreements resolved by discussion and decision by a third reviewer. Of the 39 included studies, 18 (46.2%) were judged to be at low risk of bias and 21 (53.8%) were judged to have a moderate risk of bias; none of the included studies were classified as high risk. Common methodological limitations across studies included small sample sizes, frequent single-arm or uncontrolled designs, short follow-up periods and heterogeneous outcome measures and intervention descriptions, which limited comparability and precluded meta-analysis. Detailed, study-level judgements for each assessed domain and the full quality assessment table are provided in the Supplementary Material.

Discussion

This systematic review indicates that telehealth may improve healthcare access and support selected interventions for individuals with Down syndrome (DS), particularly in speech/language therapy, physical rehabilitation, and care coordination [6, 8, 17]. Telehealth was generally feasible (reported technical success rates up to 94%) and acceptable (mean satisfaction 4.2/5), with caregivers often reporting slightly higher satisfaction (4.4/5) than participants (3.9/5) [5, 11]. Some studies suggested reductions in emergency department use, improved adherence to specialist management, and positive effects on speech clarity and motor function [14, 18]. At the same time, challenges were frequently reported, including limited success with remote physical examinations (around 78%), digital literacy deficiencies (66% of studies), and inequities in technology access, particularly in rural and low-income settings [19, 20]. Implementation was facilitated by DS-specific adaptations such as simplified interfaces, caregiver-mediated approaches, and comorbidity-focused assessments, whereas barriers included regulatory challenges (32%) and behavioral issues during sessions [13, 21].The findings suggest that telehealth can help address geographical and system-level barriers to care for individuals with DS. In speech and motor rehabilitation, outcomes were often comparable to in-person interventions when adapted appropriately [9, 22]. For example, telehealth-based speech therapy showed promising effects (Cohen’s d = 1.18), particularly when supported by caregiver involvement, reported as beneficial in 89% of studies [23, 24].

However, effectiveness was variable for complex clinical assessments, which were feasible in about 85% of cases overall, and only 78% of physical examinations were successfully completed remotely [25, 26]. Certain DS-related conditions, such as atlantoaxial instability or congenital heart disease, continue to require in-person evaluation [27]. During the COVID-19 pandemic, telehealth adoption accelerated, with benefits such as reduced travel (up to 127 miles per family per month) but also drawbacks, including technical failures (3–15%) and limited training for families (40% of studies) [28, 29]. Socioeconomic disparities further limited equitable access [20, 30]. This review makes a contribution by focusing specifically on DS, a population often grouped together with broader intellectual and developmental disability studies [31]. While previous reviews have highlighted telehealth in children with developmental disorders, this review identifies DS-specific innovations, such as comorbidity-focused screening tools [12, 32]. These findings are consistent with international calls to expand digital health as a means of reducing inequities [33]. However, 91% of included studies were from high-income countries [34]. highlighting an important evidence gap relative to the needs of low-resource settings [11, 20].

Strengths of this review include its use of multiple study designs (RCTs, observational, and qualitative studies) across 39 included studies, providing broad insight into telehealth for DS [10, 35, 36]. Its emphasis on DS-specific adaptations, such as tailored assessments and caregiver support, offers practical guidance for clinicians and technology developers [37, 38]. Consideration of both barriers (e.g., digital literacy) and facilitators (e.g., family engagement) provides direction for implementation strategies [39, 40]. Reporting quantitative outcomes, such as travel reduction (127 miles/month) and caregiver improvements (effect size = 0.67), also supports policy-relevant decision-making [41, 42]. It is, to our knowledge, the first systematic review focused exclusively on telehealth for individuals with Down syndrome, a population often grouped together with broader intellectual and developmental disabilities. The protocol was prospectively registered in PROSPERO, and the review followed PRISMA 2020 guidelines, ensuring methodological transparency. A comprehensive search strategy was developed in consultation with a medical librarian, applied across four major databases, and supplemented with AI-assisted keyword refinement. Rigorous screening, data extraction, and quality assessment were performed independently by multiple reviewers using validated tools tailored to study design. By synthesizing evidence across a range of study types, age groups, and intervention modalities, this review provides a robust overview of the feasibility, effectiveness, and challenges of telehealth in this population.

Nevertheless, generalizability is limited by the predominance of high-income country data [34]. Small sample sizes (median 28 participants), short follow-up (45% <6 months), and moderate/high risk of bias (66%) reduce confidence in long-term effectiveness [43, 44]. Heterogeneous outcome measures prevented meta-analysis, and the lack of control group in 38% of studies makes it hard to say if the effect was from the intervention [7, 45]. Heterogeneity in outcome measures prevented meta-analysis, and 38% of studies lacked a control group, limiting causal inference. Restricting to English-language studies may have excluded region-specific evidence, and cost-effectiveness data remain scarce [19, 30].

Importantly, telehealth does not automatically reduce disparities in access to care. Consistent with broader telehealth literature, several studies in this review reported barriers related to internet connectivity, caregiver digital literacy, and the need for technology adaptations for cognitive disabilities [46]. These findings align with recent evidence indicating that telehealth can widen the digital divide when structural and socioeconomic barriers are not addressed. A multi-stakeholder approach involving healthcare systems, policymakers, caregivers, and technology developers is therefore essential to ensure that telehealth interventions improve equity rather than inadvertently increasing disparities [46].In line with implementation science perspectives such as the RE-AIM framework, several studies reported improvements in service reach and participation, which may indirectly reflect improved access to care [46, 47]. However, access itself was typically measured using proxy indicators such as appointment attendance, reduced travel burden, or caregiver-reported ease of service use rather than standardized implementation outcomes.

Future studies should focus on long-term follow-up, hybrid models that combine telehealth with in-person care, and expansion into low-income settings to address inequities [11, 20]. Emerging approaches such as AI-based speech recognition tailored for DS and wearable devices for remote monitoring may enhance feasibility [8, 13]. Larger, rigorously designed trials using standardized outcome measures will be important to strengthen the evidence base [18, 31]. Policy and reimbursement frameworks should also be explored to support sustainable integration of telehealth for individuals with DS [14]. Training for providers and strategies to ensure equitable digital access will be essential to maximize the potential of telehealth for this population [5, 21].

Limitations

This review has several limitations. First, only published studies were included, which may introduce publication bias. Second, there was considerable variability in study designs, sample sizes, and outcome measures, which limited direct comparability across studies and precluded meta-analysis. Third, more than half of the studies were judged to have a moderate risk of bias, reflecting common issues such as small sample sizes, lack of control groups, and short follow-up periods, which may affect the strength and generalizability of the findings. Fourth, the evidence base was geographically skewed, with most studies conducted in high-income countries, leaving gaps in understanding of telehealth in low-resource settings. Finally, although multiple databases were searched, relevant studies in languages other than English may have been missed.

Conclusion

In summary, this systematic review suggests that telehealth can improve healthcare access for individuals with Down syndrome, particularly by reducing geographic and logistical barriers and supporting interventions such as speech therapy, motor rehabilitation, and care coordination. However, the evidence base is limited by small sample sizes, moderate methodological quality, and variability in study designs and outcome measures, which restricts the strength of the conclusions. Future research should prioritize well-designed, larger-scale studies with longer follow-up, standardized outcome reporting, and inclusion of diverse geographic and socioeconomic settings. Such work is essential to establish the long-term effectiveness of telehealth and to guide its integration into routine care for individuals with Down syndrome.

Supplementary Information

Below is the link to the electronic supplementary material.

Author contributions

AP and EM conceived and designed the study. AP and SK performed the literature search and data extraction. EM analyzed the data and prepared the figures. AP and SK drafted the manuscript. All authors read and approved the final manuscript.

Funding

No funding was received for this study.

Data availability

All data generated or analyzed during this study are included in this published article.

Declarations

Ethics approval and consent to participate

Not applicable. This study is a systematic review of previously published literature and did not involve human participants or original data collection. Therefore, approval from an ethics committee or institutional review board (IRB) was not required. This review was conducted in accordance with the PRISMA 2020 guidelines. The protocol was registered in PROSPERO (Registration ID: CRD420251081924).

Human ethics and consent to participate

Not applicable.

Consent for publication

Not applicable.

Competing interests

The authors declare no competing interests.