“Something is not right”: caregivers’ and educators’ perceptions of developmental concerns in toddlers at elevated likelihood of autism

Abstract

Background

The pre-diagnostic period before an autism diagnosis is a critical yet underexplored phase for families and educators. This study aimed to explore how family caregivers and educators experience the pre-diagnostic period of toddlers at elevated likelihood of autism, focusing on perceived developmental concerns, family impact, help-seeking trajectories, and support needs.

Methods

An exploratory qualitative design was used, based on semi-structured interviews with 15 participants (family caregivers and educators) associated with five children who screened positive for autism risk on the M-CHAT-R/F at 30 months. Data were analysed using thematic analysis.

Results

Findings were organised into four key themes aligned with the study objectives: (1) perceived developmental challenges and their impact on family dynamics; (2) caregivers’ experiences in accessing formal and informal support during the pre-diagnostic period; (3) barriers and facilitators in accessing specialised support; and (4) support needs during the pre-diagnostic period. The pre-diagnostic period was characterised by the progressive emergence of developmental concerns, particularly in communication, social interaction, emotional regulation, routines, autonomy, and sensory processing. These experiences were associated with significant impacts on family functioning, including increased caregiving demands, emotional strain, and concerns regarding the child’s future. Two distinct help-seeking trajectories were identified: one marked by early recognition and proactive mobilisation of support, and another characterised by delayed help-seeking, often associated with the normalisation or minimisation of concerns. Access to support was shaped by both facilitating factors (e.g., parental sensitivity and educator involvement) and barriers (e.g., long waiting times, financial burden, and limited recognition of concerns by professionals). Caregivers also reported unmet needs, including greater access to therapeutic services, diagnostic clarification, psychoeducation, and psychological support.

Conclusions

Overall, the findings highlight the pre-diagnostic period as a critical and under-recognised phase of family adjustment, characterised by uncertainty and active meaning-making. These results underscore the need for earlier validation of caregiver concerns, enhanced professional training, and more accessible, needs-based support prior to formal diagnosis.

Supplementary Information

The online version contains supplementary material available at https://doi.org/10.1186/s12888-026-08505-z.

Highlights

Pre-diagnostic autism period marked by uncertainty and concerns

Communication and social differences emerge as main early concerns

Early developmental challenges impact the family system

Support access shaped by systemic barriers and contextual facilitators

Caregivers reported unmet needs in therapy, diagnosis, and support

Supplementary Information

The online version contains supplementary material available at https://doi.org/10.1186/s12888-026-08505-z.

Introduction

Autism spectrum disorder: Definition and importance of early identification

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by persistent differences in social communication and social interaction, as well as restricted and repetitive patterns of behavior, interests, or activities (American Psychiatric Association, [1]). Although this clinical definition remains widely used in diagnostic and healthcare contexts, contemporary neuroaffirmative perspectives conceptualize autism as part of the natural diversity of human neurodevelopment. From this perspective, autistic individuals are understood as having diverse developmental profiles, encompassing both individual strengths and support needs that may vary across individuals and contexts [4]. This broader understanding does not diminish the importance of identification and support; rather, it highlights the need for health and educational systems that are able to recognize autistic characteristics in a timely and respectful manner. In this context, the consistently increasing estimates of reported autism prevalence, currently estimated at approximately 1 in 100 individuals worldwide [53], underscore the importance of appropriate health and educational responses, as well as strategies that promote the early identification of developmental characteristics associated with an elevated likelihood of autism.

Evidence indicates that interventions delivered during early childhood can promote developmental progress in autistic children, highlighting the importance of timely identification and access to appropriate assessment and support during this period [8, 19, 23]. However, early identification in autism involves important clinical and developmental challenges. The phenotypic heterogeneity of ASD, variability in the age and presentation of early signs, and overlap with other neurodevelopmental trajectories can hinder early recognition and the distinction between typical developmental variation and indicators of risk [26, 54]. Thus, although early detection is widely promoted, it requires careful and context-sensitive clinical interpretation, particularly in the early years of life.

Early signs and the emergence of parental concerns

Among the most frequently reported early warning signs are difficulties in verbal and nonverbal communication, alterations in social interaction [27], restricted interests, difficulties adapting to change, and sensory sensitivities [46]. These signs tend to emerge gradually and are often first identified within the family context, prior to any professional recognition [3, 36].

Caregivers occupy a unique position within developmental surveillance because they observe children’s development continuously across everyday contexts and are often the first to recognise developmental differences [14, 25]. However, the emergence of parental concerns does not always occur in a linear or unequivocal manner. The literature describes this initial period of suspicion as marked by parental uncertainty, characterized by a process of doubt and interpretation of observed changes, in which caregivers may recognize that something in the child’s development seems different but struggle to clearly define the nature of these differences [7, 42]. In this context, parents may oscillate between perceiving warning signs and hoping that the difficulties represent temporary developmental variations.

At the same time, educational settings may play an important role in the early identification of developmental characteristics associated with an elevated likelihood of autism. Preschool teachers and educators, through their observation of children’s peer interactions, group participation, and responses to routines, may be among the first to raise concerns with parents and suggest referral for medical evaluation [11, 54]. Because they observe children daily across multiple social and learning contexts and have knowledge of typical child development, educators are well positioned to recognize emerging developmental differences and guide families towards further developmental assessment and intervention services [48], thereby contributing to earlier diagnostic pathways. For this reason, including educators as informants adds value by integrating complementary perspectives from home and educational settings, allowing for a more comprehensive understanding of the emergence and interpretation of developmental concerns [11, 48]. However, although the early recognition and communication of such concerns may facilitate referral for developmental assessment and access to intervention services, concerns raised by caregivers do not always translate into equally timely responses from healthcare systems, and substantial delays before receiving a formal diagnosis remain common [7].

The pre-diagnostic experience and family impact

Despite increasing awareness of ASD, the literature indicates that significant delays persist between the emergence of initial concerns and the receipt of a formal diagnostic evaluation [7, 35]. This process has often been described in terms of help-seeking pathways or pathways to diagnosis, emphasizing that access to diagnosis does not occur linearly but rather through trajectories marked by successive decisions, evolving interpretations, and interactions with multiple contexts and professionals [21, 35], which warrant further exploration.

Studies based on retrospective reports suggest that delays in accessing diagnostic evaluation are not determined solely by the presence of early signs, but also by the way these signs are recognized and interpreted by parents [3, 30]. These delays may also be shaped by how parental concerns are acknowledged, validated, and translated into effective referral within the healthcare system [3, 42]. The pre-diagnostic period may therefore constitute a particularly challenging phase for families, marked by uncertainty, ambiguity, and the search for professional validation of parental concerns [7]. This process has been associated with parental distress [20], highlighting the need for greater attention to families’ experiences before diagnosis. From a family systems perspective, this period can be understood as a phase of progressive family adjustment, during which caregivers attempt to make sense of emerging developmental differences while adapting to new demands and reorganizing family responses accordingly [22, 32].

Role of formal and informal support

During the pre-diagnostic period, available support can play an important role in how families cope with perceived developmental differences. The literature suggests that higher levels of social support are associated with lower levels of stress, as well as better indicators of well-being and life satisfaction [31, 38], potentially functioning as a protective factor in contexts of prolonged demands and family uncertainty.

Between the moment when parents start to notice developmental differences and the eventual confirmation of an ASD diagnosis, interaction with healthcare professionals is equally important. Studies indicate that perceived formal support can significantly influence parental stress levels and the lived experience of families during this period [9, 34]. In this sense, timely referrals to assessment and intervention services may contribute to improved outcomes for children with ASD [46] and reduce prolonged impacts on the family [8, 23].

Research gaps and study rationale

Most of the literature focuses on the experience of ASD diagnosis and the post-diagnostic period [24, 28, 30, 37]. Research on the pre-diagnostic period remains relatively limited and is often based on retrospective caregiver reports [6, 42], which may be subject to recall bias.

Despite growing recognition of the importance of early identification in ASD, there is still limited research that explores in depth how caregivers experience the period preceding formal diagnosis. This gap is particularly relevant because the pre-diagnostic period is characterized by uncertainty, progressive interpretation of the child’s difficulties, the search for validation, and uneven mobilization of formal and informal resources. Understanding this phase allows not only for deeper insight into help-seeking trajectories but also for the identification of support needs that may guide earlier, more integrated, and more experience-sensitive responses. In this sense, studying the pre-diagnostic period enables a better understanding not only of the beginning of the diagnostic journey but also of a critical and empirically underexplored moment of family reorganization and need for support.

Additionally, most studies focus predominantly on caregivers’ perspectives [21, 33, 43], with more limited research integrating multiple informants, namely educators, despite the relevance of these perspectives [18, 39]. Given that early identification of ASD occurs across multiple contexts, integrating different perspectives may provide a more comprehensive understanding of the child’s difficulties, their impact, and help-seeking trajectories.

Thus, the present study aims to explore, from the perspective of family caregivers and educators: (1) perceived developmental challenges and their impact on family dynamics; (2) the types of support used (formal and informal) to cope with these challenges and how they are perceived; (3) barriers and facilitators in the pathway to seeking specialized help for identified developmental difficulties; and (4) caregivers’ identified support needs in dealing with developmental challenges.

Method

Study design

This study employed an exploratory qualitative design, using semi-structured individual interviews and thematic analysis to examine how family caregivers and educators perceived early developmental concerns, their impact, and pathways to support among toddlers who screened positive for autism risk. The study was guided by the Consolidated Criteria for Reporting Qualitative Research (COREQ; [50]) checklist (to ensure transparency, rigor and comprehensiveness of the study context and its findings.

Participants and recruitment

Participants were recruited from 15 childcare centres in Northern Portugal between January and May 2025. The study emerged from a broader research-based developmental screening initiative. As part of this initiative, all eligible families (n = 130) were invited to participate. A total of 91 mothers of children aged between 18 and 24 months completed the Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R; [40]). The questionnaires were distributed by the primary researcher and completed by the mothers. Children who screened positive on M-CHAT-R and whose families expressed interest in further participation, were contacted again and reassessed at 30 months. At this stage, the M-CHAT-R was re-administered. Following the standardized M-CHAT-R/F scoring procedure, children were classified as low- (0–2), moderate- (3–7), or high-risk (8–20). For children in the moderate-risk range, the Follow-Up Interview (i.e., the second stage of the M-CHAT-R/F) was subsequently administered. Consistent with the M-CHAT-R/F scoring guidelines, children were considered to have screened positive when they scored in the high-risk range or, in cases of moderate risk, obtained a score of 2 or higher on the Follow-Up Interview.

Five children continued to screen positive at 30 months and were considered to have an elevated likelihood of autism. These children formed the basis for recruitment into the present qualitative study. Family caregivers and educators of these children were then invited to participate. The participant recruitment and sample selection process is illustrated in Fig. 1.

Fig. 1.

Flow diagram of participant recruitment, eligibility and inclusion

Eligibility criteria for the present study required participants to be at least 18 years old and sufficiently fluent in Portuguese to complete the interview. Caregivers with self-reported severe cognitive or psychiatric difficulties that could compromise participation were excluded. For each eligible case, family caregivers and the child’s classroom educator were invited to participate. All participants provided written informed consent prior to participation. No financial compensation was offered.

The final qualitative sample comprised 15 participants. Recruitment ceased when data saturation was reached, that is, when no new themes or relevant information emerged from the data [45]. Participant characteristics are presented in Table 1.

Table 1.

Characteristics of the participating toddlers

Child	Sex	Age (months)	Birth order	Expressive language	Family socioeconomic status
S.	Male	30	Second or later	Vocalizations	Middle
K.	Male	30	Second or later	Vocalizations / emerging words	Low-middle
L.	Male	30	First	Vocalizations / emerging words	High
J.	Male	30	Second or later	Vocalizations / emerging words	Low-middle
MP	Female	30	First	Vocalizations	Low

Note. Family socioeconomic status was classified according to self-reported monthly household income: Low (€500–999), Low–middle (€1,000–1,499), Middle (€1,500–1,999), and High (>€2,000)

The sample included five mothers, four fathers, one grandmother, and five educators. Family caregivers ranged in age from 31 to 60 years, and their educational level ranged from lower secondary education (third cycle) to upper secondary education. Educators ranged in age from 41 to 48 years, all had qualifications in early childhood education (four held a bachelor’s degree and one a master’s degree), had between 21 and 23 years of professional experience, and all reported previous professional experience working with autistic children.

The children included four boys and one girl. None had received a formal autism diagnosis at the time of the study. All families resided in Northern Portugal. At the time of data collection, children were at different stages of the diagnostic and intervention pathway: some had been referred to early intervention services, others were undergoing diagnostic evaluation, and some had not yet been formally referred or assessed for autism.

Interview protocol and data collection

A semi-structured interview protocol was developed (see supplementary material 1) based on a review of the literature on early developmental risk, family impact, and access to intervention services. The interview guide aimed to explore: (a) perceptions of developmental concerns, (b) perceived impact on family or classroom functioning, (c) help-seeking experiences, and (d) perceived barriers and supports.

Adapted versions of the interview guide were used for family caregivers and educators, maintaining the same core domains while tailoring prompts to each participant’s role.

A pilot interview was conducted with participants outside the study sample to refine the wording and sequencing of questions. Minor adjustments were made to enhance clarity and flow.

All interviews were conducted individually and face-to-face by the primary researcher in a private room within the childcare centres. Interviews lasted approximately 40 min on average and were audio-recorded with participants’ consent. The primary researcher transcribed all interviews verbatim, and transcripts were anonymized prior to analysis.

Individual interviews were chosen to enable participants to share their experiences freely and to capture potentially diverse perspectives across family and educational contexts.

Data analysis

Data were analysed using thematic analysis following the framework proposed by Braun and Clarke [5]. A hybrid approach combining inductive (data-driven) and deductive (concept-informed) strategies was adopted. Themes were generated primarily at a semantic level, focusing on participants’ explicit accounts, while allowing for interpretive refinement during theme development.

The analysis followed six phases: (1) familiarization with the data through repeated reading of transcripts; (2) generation of initial codes; (3) searching for candidate themes; (4) reviewing and refining themes; (5) defining and naming themes; and (6) producing the final report with illustrative quotations.

Coding was conducted manually by the primary researcher, a PhD candidate in Clinical and Counselling Psychology with training in early childhood development and autism assessment, and by a second researcher, a PhD in Clinical Psychology with expertise in developmental psychology. Both researchers engaged with the transcripts independently and then met regularly to compare coding, discuss interpretations, and refine the analytic framework through dialogue. This collaborative analytic process enhanced the credibility and rigor of the findings.

The research team engaged in ongoing reflexive discussion regarding professional background, theoretical assumptions, and potential interpretative biases. The primary researcher’s formal training in psychology and clinical experience in early childhood development and autism assessment informed both data collection and analysis. Reflexive dialogue was maintained throughout the analytic process to support ongoing critical reflection on analytic decisions.

Ethical considerations

The study was conducted in accordance with national ethical guidelines and the Declaration of Helsinki. Ethical approval was obtained from the relevant partner institutions and the leadership of the school clusters (No. 1594500001). All participants provided written informed consent prior to participation.

Data were anonymized and assigned identification codes to ensure confidentiality. Audio recordings and transcripts were stored securely on a restricted-access institutional server. Pseudonymization procedures were implemented to protect participant identity, and no individually identifiable data are disclosed in any dissemination of the findings.

Findings

This section presents the results of the qualitative analysis of the 15 interviews conducted with family caregivers (e.g., mothers, fathers, and a grandmother) and educators during the pre-diagnostic period. The findings are presented in accordance with the study objectives. The findings are organized into four key themes aligned with the study objectives: (1) perceived developmental challenges and their impact on family dynamics; (2) caregivers’ experiences in accessing formal and informal support during the pre-diagnostic period; (3) barriers and facilitators in the pathway to specialized support and (4) support needs during the pre-diagnostic period. Figure 2 presents the thematic map that emerged from data analysis.

Fig. 2.

Thematic map illustrating the themes and subthemes identified through qualitative data analysis

Perceived developmental challenges and impact on family dynamics

Regarding the first objective, two main themes were identified: (1) perceived developmental challenges and (2) the impact of developmental challenges on family dynamics.

Perceived developmental challenges

This theme is organized into six subthemes: (1) communication processes; (2) social interaction; (3) emotional regulation; (4) routines; (5) autonomy; and (6) sensory processing.

Communication difficulties were among the earliest and most consistently reported concerns by both family members and educators. Caregivers described limited verbal communication, difficulties expressing needs, reduced use of gestures such as pointing, and, in some cases, language stagnation or regression: “When he got to one year and eight months, he started not saying words—words he had already said, he stopped saying” (Father J.).

Concerns regarding social interaction centred on reduced social reciprocity, limited response to name, low participation in peer activities, and a marked preference for familiar caregivers, particularly the mother. As one educator described: “The other children call him and he doesn’t react. Every day we say ‘good morning’ and every day he just looks and doesn’t react” (Educator S.).

Emotional regulation difficulties were characterised by intense reactions to frustration, opposition, or environmental changes, including prolonged crying, tantrums, self-injurious behaviours, and the need for adult support to regain emotional control: “She cannot regulate herself on her own. Someone always must go and hold her hand…” (Educator M.).

Participants also described a strong preference for routines and predictability, with changes in daily organisation frequently triggering distress or frustration: “If I change the route, he starts screaming, gets frustrated” (Father J.).

Finally, caregivers described sensory particularities involving tactile and environmental sensitivities, difficulties with clothing, hygiene routines, temperature, and food selectivity. These reactions often interfered with everyday activities: “We can’t go to the beach because he cries, or to the park because of the grass” (Mother K.).

Impact of developmental challenges on family dynamics

The impact of developmental challenges on family dynamics was organized into seven subthemes: (1) impact on family routines; (2) emotional and physical impact on caregivers; (3) concerns about the child; (4) financial impact; (5) impact on the couple relationship; (6) professional impact; and (7) social impact.

Despite the impact described by several participants, some caregivers reported not identifying significant changes in family dynamics or described a decrease in concerns over time: “There are no major changes in the routine, we already have two daughters, we are used to it” (Mother S.); “No impact on day-to-day life” (Mother L.).

Even so, the impact on family routines was widely referred to, appearing associated with increased demands in everyday activities and the need to reorganize family life according to the child’s needs: “It’s much more work, it’s more tiring, for example, giving a bath. A family outing is stressful” (Mother J.). In some cases, participants referred to a broader reorganization of family routines, including frequent travel to therapies and appointments: “We have much more work with her, we have to go to therapies, then we have to go to appointments… Everything changed completely” (Grandmother M.).

The emotional and physical impact on caregivers constituted another relevant subtheme, with high levels of tiredness, overload, and strain being described in association with managing the child’s needs: “The mother becomes exhausted” (Grandmother M.); “It’s very draining, it’s very difficult, it’s a lot of overloads” (Mother J.). In some cases, caregivers referred to neglecting their own physical and personal needs: “I have put that individual part of myself very much aside—my health, even my appearance” (Mother J.). Reports of sadness, frustration, and psychological distress also emerged: “I became very frustrated (…) I became very sad. I really wasn’t expecting it. It affected me psychologically” (Father J.); “It feels like I lost my son” (Mother J.). Participants also expressed child-focused concerns, namely the child’s current developmental differences in comparison with peers: “Our biggest concern is speech, verbal expression, and interaction with other children (…) I want him to keep up with the other little friends” (Father J.). Concerns were also mentioned regarding the child’s future, such as the possibility of bullying and prejudice: “I worry about bullying at school” (Father J.); “Prejudice is something real” (Mother J.). Future autonomy and functioning in adult life also emerged as significant sources of concern: “If I’m not here, if my wife isn’t here, who is going to take care of them?” (Father J.).

Financial impact was referred to mainly in situations in which delays in access to public services led families to resort to therapies and interventions in the private sector: “It’s not easy, because at the moment we are the ones bearing that cost” (Mother M.).

Impact on the couple relationship was mentioned in accounts pointing to difficulties in the couple’s adaptation to the demands associated with the child’s difficulties: “Our adaptation as a couple is complicated” (Mother J.).

Professional impact emerged as associated with repercussions for caregivers’ working lives, including difficulties in maintaining employment or demotivation at work: “If I were working, I wouldn’t be able [to have the availability my child needs]” (Mother J.); “I was demotivated, even regarding work” (Father J.).

Finally, social impact was described through episodes of public exposure during moments of behavioural dysregulation, often accompanied by feelings of being judged by others: “He cries to the point that people stop in the street (…) It feels like I’m not a mother” (Mother J.). Difficulty with inclusion in the school context was also referred to: “Inclusion is difficult” (Educator S.).

Caregivers’ experiences in accessing formal and informal support during the pre-diagnostic period

Based on the second objective of the study—to analyse the experiences of family caregivers and educators in accessing formal and informal support during the pre-diagnostic period—different help-seeking patterns emerged.

Help-seeking trajectories

Analysis of the accounts made it possible to identify two main pathways in accessing specialized support: (1) early validation and mobilization and (2) minimization and delayed referral.

In the early validation and mobilization pathway, some caregivers recognized changes in the child’s behaviour or development at an early stage and sought specialized support relatively quickly: “When I started to notice, I said to my wife: ‘look, he’s just not there anymore, he doesn’t look at us, it’s like this’” (Father J.); “We had already been noticing” (Mother M.). In these contexts, a relatively rapid mobilization of the support network can be observed, often involving coordinated involvement between family, educational context, and specialized services. In some cases, educators emerged as important figures in validating concerns and encouraging help-seeking: “Here at the daycare, she also advised us to seek this help. And, well, that’s where it started” (Mother M.); “I immediately realized that there were some issues here that were not quite in line with the age range (…) I spoke to the mother” (Educator M.). Formal referral processes initiated in the educational context were also described: “I spoke to the parents, and they agreed to the referral” (Educator J.).

In contrast, the minimization and delayed referral pathway was marked by processes of initial normalization of the difficulties, delay in seeking help, or lower recognition of the need for specialized assessment. Some participants reported feeling that their concerns were not recognized: “They minimize this, they don’t pay attention… doctors and all that. It feels like I’m the only one who sees it” (Father K.); “Doctors say he will do everything, but in his own time” (Father S.). In other cases, normalization of the difficulties was associated with the expectation that the child’s development would happen at his own pace: “The issue of waiting… maybe between 18 months and 24 months, we thought he probably still needed a bit more time” (Mother L.). Situations of initial resistance or difficulty recognizing the extent of the observed difficulties were also described: “The parents were never very receptive, until recently” (Educator L.); “I see the mother as extremely worried, but I do not get the impression that she is aware of S.’s difficulties” (Educator S.).

Experienced formal and informal support

The analysis of support experiences made it possible to identify two subthemes: (1) informal support network and (2) specialized support network.

The informal support network, predominantly family-based, was described as the first resource mobilized by caregivers. In some cases, coparenting was presented as collaborative, although with a differentiated distribution of responsibilities: “Although I have some help from the father (…) I have more help from the grandmother” (Mother M.). In contrast, in other contexts there was a greater concentration of parental responsibilities in the mother figure: “My husband (…) loses patience more easily… so it ends up coming more to me. So, like this, I’m on my own for the two of them” (Mother J.).

The involvement of the extended family also appeared to vary. In some cases, grandparents took an active role in therapeutic follow-up and daily logistics: “Sometimes I’m the one who goes to therapy” (Grandmother M.). Support from siblings was also mentioned: “At home, with the time we have, the sisters try to help too” (Mother S.). On the other hand, some caregivers referred to an absence of family involvement or contact experienced as a source of tension and misunderstanding: “The grandparents on the father’s side are not very connected and don’t even want to be” (Mother K.). One participant also referred to drawing on his own experience and informal advice from people with educational experience: “We gather all the information and try to filter it and introduce it to L.” (Father L.).

The specialized support network emerged in association with increasing developmental concerns and the initiation of services during the pre-diagnostic period. Among the interventions mentioned were different therapeutic modalities, namely Occupational Therapy and Speech and Language Therapy: “She is doing Occupational Therapy” (Mother M.); “He is attending speech therapy” (Mother L.). Specialized medical follow-up was referred to mainly in situations in which the difficulties had become more visible or persistent: “He is already being followed by a child psychiatrist in the ASD area” (Mother J.). The educational context was also described as an integral part of the specialized support network, both through continuous observation of the child and through the implementation of tailored intervention strategies: “The school also helps here” (Father J.); “I also do more targeted work” (Educator K.).

Barriers and facilitators in the pathway to specialized help

Regarding the third objective, factors that hindered and factors that facilitated access to specialized support emerged.

Barriers to accessing specialized support

The analysis of barriers made it possible to identify two broad subthemes: (1) structural barriers in the access system and (2) perception of developmental difficulties.

The subtheme structural barriers in the access system included references to the financial costs associated with therapies, the slowness of public services, and the perceived insufficiency of responses in mainstream educational settings.

High costs emerged as one of the main barriers referred to by participants. Faced with delays in access to public services, several families reported resorting to the private sector, taking on costs considered difficult to bear: “We chose to go private, we are paying, right? But it’s not easy” (Grandmother M.).

The slowness of access to public services was also highlighted, with prolonged waiting lists for assessment or the beginning of therapies being frequently mentioned: “We waited because we were on a waiting list” (Mother L.).

In addition, there emerged a perception that mainstream education does not always have adequate conditions to respond to the specific needs of some children, particularly in terms of individualized support: “We are talking about mainstream education, where we do not have one-to-one support” (Educator M.).

The subtheme perception of developmental difficulties brought together obstacles associated with the way the child’s difficulties are recognized, interpreted, or valued by parents and by other intervening agents, namely healthcare professionals.

Denial or normalization of difficulties was referred to in several accounts. Some caregivers described situations in which they felt their concerns were minimized by professionals: “They minimize this, they don’t pay attention… doctors and all that. It feels like I’m the only one who sees it” (Father K.). In other situations, educators referred to parental resistance or low awareness of the difficulties: “I do not get the impression that the mother is aware of S.’s difficulties” (Educator S.).

In some cases, normalization was supported by comparisons with personal experiences or by the expectation that development would happen more slowly, but still within the normal range: “They themselves justify the child’s behaviour… and normalize it, because they say they were like that too” (Educator L.). Divergences in perception between the parents themselves were also described, as well as ambivalence regarding the nature of the observed difficulties: “My husband doesn’t have the sensitivity to tell the difference between a tantrum and some kind of rigidity” (Mother J.); “I still don’t know whether it really is autism or whether it could actually just be his delay” (Mother K.).

Lack of knowledge about normative developmental trajectories also emerged as a factor that can hinder the early identification of warning signs: “For someone without training, it is natural not to detect it” (Educator M.); “Everything was new; first-time parents, we had no idea at all [about development]” (Father L.). Finally, initial resistance to referral for specialized assessment was also referred to: “The parents were never very receptive” (Educator L.).

Facilitators in accessing specialized support

Among the factors that facilitated access to specialized support, four subthemes emerged: (1) the role of the school in signalling concerns and referral; (2) parental recognition of risk signs; (3) valuing early intervention; and (4) positive family response after concerns were raised.

The role of the school in signalling concerns and referral was described as central in identifying risk signs and guiding families toward specialized support: “It was here that the educator, when he was 2 years old, raised that concern” (Father L.). Formal referral processes were also described: “I have already sent the referral form to the school cluster and to the health centre” (Educator L.).

Parental recognition of risk signs also emerged as a facilitator of access to specialized support. Some parents described having identified changes in the child’s development or behaviour at an early stage: “I was the one who raised the concern. I’ve been saying since he was 6 months old that the child has something” (Father K.).

Valuing early intervention was also expressed by some caregivers, who associated a faster response with better possibilities for support: “The earlier we start the therapies, the better” (Grandmother M.).

Finally, a positive family response after concerns were raised was described. Even in contexts in which there had initially been resistance, some families later showed active involvement in the help-seeking process: “After they understood that it was important (…) they were super quick and the family is very involved” (Educator M.).

Support needs during the pre-diagnostic period

Regarding the fourth objective, one main theme was identified, related to the support needs perceived by caregivers during the pre-diagnostic period. This theme is organized into four subthemes: (1) intensification of therapies; (2) need for assessment or additional support; (3) psychoeducation; and (4) psychological support for parents.

The subtheme intensification of therapies brings together accounts pointing to the perception that the current frequency of interventions is insufficient in relation to the child’s needs. Some caregivers referred to the idea that greater therapeutic intensity could contribute to better developmental progress: “And I think she needed more, because once a week is very little” (Grandmother M.).

Regarding the subtheme need for assessment or additional support, the need for specialized assessment was mentioned, namely in developmental paediatrics consultations: “In my opinion, he needs to be assessed by a developmental paediatrician” (Educator S.). In addition, although support in the areas of occupational therapy and speech and language therapy was frequently mentioned, participants suggested the need to diversify therapeutic interventions: “I really think that any kind of therapy… could help” (Father K.). Some participants also referred to the importance of adjustments in the educational context in order to ensure responses better suited to the child’s needs: “Looking for a school (…) more geared towards her” (Educator M.).

On the other hand, some caregivers did not identify immediate needs for additional support, adopting a more expectant stance regarding the evolution of the child’s development: “There isn’t much to do. (…) he will decide in his own time” (Father S.).

The subtheme psychoeducation emphasizes the need for guidance for caregivers, promoting greater understanding of the child’s needs and the development of appropriate stimulation strategies. Some educators referred to the importance of supporting parents in how they interpret and respond to the observed difficulties: “Support also to help parents understand that he needs to be stimulated” (Educator K.). In this context, the importance of guiding caregivers in the use of everyday developmental stimulation strategies was underlined: “Teaching how to play (…) doing pretend play, which is fundamental at this age” (Educator M.).

Finally, the subtheme psychological support for parents includes references to the possible need for psychological support directed at caregivers, particularly in contexts of greater emotional overload. In some accounts, this need was acknowledged: “A psychologist wouldn’t be a bad idea for her [for the mother]” (Grandmother M.); “Sometimes that could help [psychological support] (…) there are situations that are hard to deal with” (Father J.). However, in other accounts, some caregivers reported not feeling the need for formal psychological support: “I managed well on my own” (Mother L.).

Overall, the findings indicate that the pre-diagnostic period constitutes a highly demanding phase for families, marked by the perception of multiple developmental challenges, by a significant impact on family dynamics, and by differentiated trajectories in access to specialized support.

Discussion

The present study aimed to understand how caregivers of toddlers at elevated likelihood of autism experience the pre-diagnostic period, while also exploring access to specialized support during this phase.

Perceived developmental challenges in the pre-diagnostic period

Overall, the findings indicate that this period is characterized by a gradual process of identifying developmental difficulties, accompanied by a progressive increase in parental concerns and the mobilization of help-seeking strategies within a context often marked by uncertainty and ambiguity. The results suggest that this period constitutes a particularly sensitive phase for families, in which parental interpretations of the child’s development are still being constructed, with perceptions of concern coexisting alongside attempts to normalize the observed difficulties.

Communication difficulties emerged as one of the most salient concerns in caregivers’ accounts, often described through the absence of verbalizations, regression in language, or difficulties in expressing needs. This pattern is consistent with studies indicating that alterations in verbal and nonverbal communication constitute one of the earliest indicators perceived by caregivers in children later diagnosed with ASD [27, 46]. Beyond the identification of these signs, the findings indicate that communication also plays a central role in shaping parental concerns, as the absence of functional language tends to make discrepancies between the child’s development and age-related expectations more visible.

Similarly, difficulties in social interaction, such as reduced social reciprocity, limited response to name, and decreased participation in peer activities, were widely reported. These behaviours are also described in the literature as early signs observed in the development of children with ASD [27]; [46]. However, the findings of the present study suggest that caregivers’ interpretation of these signs does not always occur immediately. In many cases, these manifestations are initially interpreted as temperamental characteristics of the child or as individual variations in development, which may contribute to prolonging the pre-diagnostic period.

Participants also described a marked preference for routines and difficulties in emotional regulation, particularly in situations involving frustration or change. These observations are partly consistent with the restricted and repetitive patterns of behaviour described in the literature [1, 46]. However, in the present study, it was observed that during the pre-diagnostic period, these manifestations may be experienced by caregivers primarily as challenges in managing the child’s behaviour in everyday life, before being conceptualized as part of a broader developmental condition.

Alterations in sensory processing were also reported, including intense reactions to tactile stimuli, difficulties related to temperature and texture, and food selectivity. These findings are consistent with evidence regarding sensory particularities in children with autism [46].

Finally, difficulties in autonomy were also reported, such as dependence on adults for daily routines, intense seeking of proximity to parental figures, and reduced awareness of danger. These difficulties reflect deficits in adaptive functioning and daily living skills in children with ASD described in the literature [49].

These findings reinforce previous evidence showing that caregivers are often the first to recognise developmental differences in their children [3, 36]. The present study further highlights the complementary role of educators, who frequently contributed to validating parental concerns and supporting referral for specialised assessment [11]. Together, these findings emphasise that the early recognition of developmental concerns is shaped through interactions across family and educational settings.

Impact of developmental difficulties on family dynamics

The developmental differences perceived during the period of diagnostic uncertainty appear to have significant repercussions on family functioning. Caregivers reported changes in family routines, emotional and physical overload, concerns about the child’s development and future, challenges within the couple relationship, professional and social impact, and financial difficulties. These findings are consistent with the literature describing the significant impact of caring for children with ASD on caregivers’ quality of life [20, 44, 47].

However, the findings of the present study suggest that this impact may emerge even before formal diagnostic confirmation. During the pre-diagnostic period, caregivers are often confronted with emerging developmental differences in the child’s behaviour and communication without a clinical framework that allows them to interpret these difficulties with greater certainty. This lack of clarity may intensify feelings of uncertainty and overload, suggesting that parental distress does not begin only after diagnosis, but already during the period of suspicion [20].

The day-to-day management of communication differences, emotional dysregulation, and sensory particularities often required substantial reorganization of family routines, reducing opportunities for social participation and contributing to feelings of isolation among some caregivers [52]. At the same time, many participants expressed concerns regarding their children’s future, particularly with respect to autonomy, school integration, and possible social stigma. Together, these concerns appear to reflect the uncertain nature of the pre-diagnostic period [2, 7], characterized by difficulties in anticipating the child’s developmental trajectory in the absence of a clear clinical framework [17].

Importantly, the experience of the pre-diagnostic period was not uniformly negative across families. Some participants reported a reduction in concerns over time or indicated that they had developed ways of adapting to the child’s needs. This pattern may reflect processes of gradual adjustment, in which caregivers develop coping strategies and progressively reorganize family routines in response to contextual demands. The presence of social support networks, as well as positive reappraisal strategies, has been associated with higher levels of parental adaptation and better caregiver quality of life [12, 13]. In this sense, the experience of the pre-diagnostic period appears to vary across families, being shaped by multiple factors, including child characteristics, available family resources, social support, and interactions with health and education professionals.

Help-seeking trajectories: barriers and facilitators

The findings of the present study suggest two distinct trajectories in the pathway to seeking specialized help: one trajectory characterized by early validation and mobilization of parental concerns, and another marked by initial processes of minimizing difficulties and delaying referral for specialized assessment. These trajectories suggest that the pathway to accessing specialized services is not linear, but is influenced by multiple individual, relational, and institutional factors.

The early mobilization trajectory appears to be associated with greater parental sensitivity in recognizing changes in the child’s development, as well as with the validation of these concerns by health or education professionals. In these cases, the coordination across different care contexts—family, school, and health services—appears to facilitate the mobilization of resources and more timely access to specialized assessment or intervention. The literature has highlighted that the validation of parental concerns by professionals constitutes a critical factor in the referral process for assessment [3, 19], since parents often play a central role in the initial detection of developmental changes.

Consistent with this interpretation, several facilitators appeared to promote earlier access to specialized support. These included parental sensitivity to developmental differences, the active role of educational settings in recognising emerging concerns, and the value attributed by families to early intervention. Particularly relevant in the present study was the contribution of educators, who frequently validated parental concerns and guided families toward specialized assessment, reinforcing their role as important facilitators in the pathway to autism diagnosis [11].

In contrast, the trajectory marked by delayed help-seeking appears to reflect processes of normalization or minimization of the observed difficulties, both on the part of caregivers themselves and on the part of professionals who constitute the first points of contact with families. Messages suggesting that the child will develop “at his or her own pace” may contribute to delaying recognition of the need for specialized assessment, thereby prolonging the period of uncertainty experienced by caregivers. This phenomenon has been widely described in the literature on diagnostic pathways in autism [35, 42, 51], showing that alternative interpretations of early signs—often associated with normative developmental variations—may delay access to specialized services.

The findings further suggest that this trajectory is shaped by several barriers operating at different levels. Structural barriers, including prolonged waiting times for diagnostic assessment and the high costs associated with private services, frequently delayed access to specialized support [21, 47]. In addition, some caregivers described experiences in which their concerns were minimized or not adequately recognized by health professionals, contributing to frustration and prolonging the period of diagnostic uncertainty. Beyond structural and professional barriers, caregivers also described challenges related to the recognition and interpretation of developmental differences. Limited knowledge of developmental milestones, together with processes of normalization or denial, sometimes delayed the decision to seek specialized assessment. As previously described in the literature [42], parents may oscillate between perceiving early warning signs and hoping that the observed differences represent temporary developmental variations, contributing to prolonged uncertainty and delaying access to specialized assessment.

Taken together, these findings suggest that help-seeking trajectories are not determined solely by the child’s developmental characteristics, but also by the way parental concerns are recognised, interpreted, and legitimised within interactions with health and education professionals. Accordingly, the process of seeking specialised support may be understood as a relational and systemic phenomenon, in which the validation—or minimisation—of parental concerns plays a central role in the mobilisation of resources and access to specialised assessment and intervention.

In this context, it becomes particularly important to recognise and validate caregivers’ concerns at an early stage. Psychoeducational strategies aimed at families regarding child development and early signs of concern may contribute to increasing caregivers’ confidence in identifying possible developmental differences and promoting more timely help-seeking [15]. At the same time, strengthening the training of professionals who frequently constitute families’ first point of contact—namely general practitioners, nurses, and educators—may promote greater sensitivity to parental concerns and facilitate timely referral for specialised assessment [3].

Formal and informal support during the pre-diagnostic period

Caring for a child with signs consistent with ASD during the pre-diagnostic period appears to imply a significant reconfiguration of family dynamics and interpersonal relationships. In this context, support networks—both formal and informal—play a particularly relevant role in the way caregivers experience and manage the challenges associated with the child’s developmental characteristics. The family network often emerged as the first source of support mobilized by caregivers, playing an important role in managing the everyday demands associated with the child’s developmental characteristics. However, the quality of this support was heterogeneous, ranging from contexts characterised by strong family collaboration to situations in which caregivers perceived limited involvement or misunderstanding from relatives. These differences appeared to influence caregivers’ experiences, as consistent informal support has been associated with greater parental adaptation and better well-being [31, 38]. In this context, coparenting and the involvement of the extended family may contribute to either a more facilitated or a more challenging caregiver experience, depending on the sharing of responsibilities and the support available.

In addition to informal networks, the findings also show a progressive transition toward the mobilization of specialized support, even in the absence of a formal diagnosis. Many caregivers reported resorting to services such as speech therapy, occupational therapy, or medical follow-up in response to persistent difficulties in the child’s development. This pattern suggests that, for some families, seeking intervention may precede diagnosis, reflecting an attempt to respond to observed needs regardless of the existence of a diagnostic confirmation.

This finding reinforces the importance of integrating formal support networks as facilitators of the pathway to diagnosis. The implementation of early interventions based on observed needs, even in the absence of a formal diagnosis, may contribute to improving the child’s developmental prognosis [46] and reducing the prolonged impact of these difficulties on family functioning [8, 23].

On the other hand, the findings also show that the minimization of parental concerns by health professionals may generate a perception of lack of formal support, contributing to feelings of frustration and lack of understanding among caregivers. Between the moment when parents begin to identify difficulties in the child’s development and eventual diagnostic confirmation, interactions with health professionals seem to play a particularly relevant role in how caregivers interpret and manage the situation [9, 34]. Thus, the perception of support—or its absence—may significantly influence caregivers’ experiences during this period of uncertainty.

Although many caregivers had already accessed some forms of intervention, they identified several unmet support needs during the pre-diagnostic period concerning both the child and the family. Among the most frequently mentioned needs were the intensification of existing interventions, particularly in the areas of language and sensory regulation, as well as access to assessment by specialties such as developmental paediatrics.

These findings reinforce the importance of early intervention in contexts of suspected developmental disorders. The literature has shown that early childhood constitutes a period of high brain plasticity [16, 23], during which targeted interventions may have a significant impact on the development of communication, social interaction, and behavioural self-regulation. In this sense, the implementation of support strategies based on observed needs—even in the absence of a formal diagnosis—may constitute a relevant approach to promoting more favourable developmental trajectories.

On the other hand, some caregivers reported not identifying an immediate need for additional support for the child, expressing the perception that they were doing the best they could with the available resources or preferring to wait for the natural course of development. This position may reflect expectations related to individual variability in child development, as well as the influence of reassuring messages received from professionals or family members.

In addition to intervention needs directed at the child, the findings also highlight the relevance of support directed at caregivers themselves. Parental psychoeducation emerges as an important need, since access to clear, evidence-based information may contribute to increasing caregivers’ confidence in managing the child’s difficulties and promoting more appropriate interaction practices [41]. Although less prominent in participants’ accounts, psychological support for caregivers was also mentioned as a relevant need. The pre-diagnostic period is often characterized by uncertainty, ambivalence, and concern about the child’s future, factors that may contribute to high levels of parental stress. The provision of psychological support may therefore play an important role in promoting caregivers’ emotional well-being, helping them to develop adaptive strategies to cope with the challenges associated with this phase [37].

However, it should be noted that not all participants reported a need for formal psychological support. In some cases, caregivers considered that they had sufficient personal resources or informal support networks to manage the situation autonomously. This pattern suggests that support needs may vary significantly across families, being influenced by factors such as available social support, individual coping strategies, and personal psychological resources.

Overall, the findings suggest that support during the pre-diagnostic period extends beyond access to specialised services. The availability, quality, and timing of both formal and informal support appear to shape caregivers’ experiences, while unmet needs highlight the importance of family-centred approaches that provide timely information, guidance, and emotional support before diagnostic confirmation.

These findings are consistent with recent qualitative evidence, which identified the provision of support throughout the entire assessment and diagnostic pathway—rather than only following diagnostic confirmation—as a key component of high-quality autism assessment services [29].

Strengths and limitations

A major strength of this study lies in its focus on the pre-diagnostic period, an empirically underexplored stage of the autism pathway. By integrating the perspectives of family caregivers and educators, the study provides a richer understanding of how developmental concerns emerge, are interpreted, and influence help-seeking before formal diagnosis. The inclusion of multiple informants also allowed the triangulation of experiences across home and educational contexts.

Despite these strengths, several limitations should be acknowledged. The sample size was relatively small and drawn from a specific context, which may limit the transferability of the findings. However, the sample was appropriate for a qualitative design aimed at exploring participants’ experiences in depth, and data collection was conducted until thematic saturation was reached. Future studies may include more diverse samples to further explore these findings across different contexts.

It is also important to consider that the study captures participants’ perceptions at a specific moment in the pre-diagnostic pathway. Although none of the children had received a formal autism diagnosis at the time of data collection, they were at different stages of the diagnostic and intervention pathway, including referral to early intervention services, ongoing diagnostic assessment, and no formal referral. These differences should be considered when interpreting the experiences and perceptions reported by caregivers and educators. Moreover, as this pathway is dynamic, many situations were still evolving, and the interpretations attributed to the child’s differences may change over time, particularly after diagnostic confirmation or the beginning of specialized interventions. Future longitudinal studies may contribute to a more in-depth understanding of how these perceptions evolve throughout the diagnostic and intervention pathway.

Implications for practice and future research

The findings of the present study highlight the relevance of strengthening early action strategies in the follow-up of children with suspected ASD, as well as promoting adequate support for caregivers during the pre-diagnostic period. The practical implications arising from these findings lie mainly at the level of public health policies, professional training, and the provision of support resources directed at families and educational contexts.

First, the findings reinforce the need to strengthen the training of health professionals, particularly in primary healthcare, which often constitutes families’ first point of contact with the healthcare system. Specific training in child development and early signs of autism may contribute to increasing professionals’ sensitivity to the concerns expressed by caregivers and to promoting more timely referrals for specialized assessment.

In this context, the systematic implementation of developmental screening instruments in child health surveillance appointments, such as the M-CHAT-R, followed when indicated by the Follow-Up Interview (M-CHAT-R/F; [40]), may constitute a relevant strategy to facilitate the early identification of risk signs and reduce delays in access to diagnostic assessment.

At the same time, it is equally important to promote psychoeducational initiatives directed at parents and caregivers about child developmental milestones and warning signs of neurodevelopmental disorders. The provision of clear, accessible, and evidence-based information in the context of child health surveillance appointments may contribute to increasing parental literacy regarding child development. This knowledge may facilitate the early recognition of possible developmental changes and promote more timely help-seeking, while also reducing feelings of uncertainty and anxiety often associated with the pre-diagnostic period.

Another relevant implication concerns the need to promote access to early intervention strategies based on the child’s observed needs, even in the absence of a formal diagnosis. The literature has shown that interventions implemented during early childhood may have a significant impact on the development of communication, social interaction, and behavioural self-regulation. Thus, intervention models that prioritize the child’s functional needs, rather than depending exclusively on diagnostic confirmation, may help promote more favourable developmental trajectories and reduce the impact of difficulties on family functioning. More broadly, this perspective is aligned with emerging models of care that emphasise early, parent-mediated, evidence-based support. For example, the PASS intervention was developed to increase access to evidence-based parent-mediated intervention through task-shifting and adaptation to low-resource settings [10].

Additionally, the findings underline the importance of support networks, both formal and informal, for caregivers’ well-being. Support from family members, friends, health professionals, educators, and peer groups may play a relevant role in reducing the overload associated with caring for a child with suspected developmental difficulties. In this sense, policies and practices that promote access to psychological support services, parent support groups, and community resources may constitute important strategies for improving families’ quality of life during the pre-diagnostic period.

Regarding future research, it would be relevant to deepen understanding of families’ help-seeking trajectories from the identification of initial parental concerns to access to diagnosis and specialized intervention. Future studies may explore in greater detail the individual, family, and institutional factors that facilitate or hinder the early identification of risk signs and access to specialized services.

Additionally, it will be relevant to assess the impact of training programs directed at health professionals and psychoeducational initiatives for caregivers on reducing the time elapsed until diagnostic assessment and intervention.

Finally, longitudinal studies following families throughout the pre-diagnostic pathway may contribute to a more in-depth understanding of the evolution of parental concerns, the coping strategies used by caregivers, and the impact of early interventions on family well-being. Qualitative and longitudinal approaches may be particularly relevant for understanding the dynamic nature of this process and for identifying support strategies that respond more effectively to families’ needs.

Conclusion

The present study provides new insight into how caregivers and educators experience the pre-diagnostic period of children with likelihood of autism. Rather than representing merely a waiting period before diagnosis, this phase emerged as a dynamic process characterised by the recognition and interpretation of developmental differences, family adaptation, evolving help-seeking trajectories, and varying experiences of formal and informal support.

These findings highlight the importance of recognising the pre-diagnostic period as a critical opportunity for family-centred support. Strengthening collaboration between families, educators, and health professionals, together with timely recognition and validation of developmental concerns, may facilitate earlier access to appropriate assessment and intervention while supporting family well-being throughout this period of uncertainty.

Supplementary Information

Below is the link to the electronic supplementary material.

Abbreviations

APA

American Psychiatric Association

ASD

Autism Spectrum Disorder

COREQ

Consolidated Criteria for Reporting Qualitative Research

M-CHAT-R/F

Modified Checklist for Autism in Toddlers, Revised

Author contributions

All authors contributed to the study conception and design. Data collection was performed by F.F. Data analysis was conducted by F.F. and A.C. The first draft of the manuscript was written by F.F., and A.B. and A.C. critically revised it. All authors approved the final manuscript.

Funding

This work is funded by national funds through FCT – Fundação para a Ciência e a Tecnologia, I.P., under the Programme Contract UID/06397/2025. https://doi.org/10.54499/UID/06397/2025.

Data availability

The data are not publicly available due to the sensitive nature of the interviews and the need to protect participant confidentiality but may be available from the corresponding author upon reasonable request and subject to ethical restrictions.

Declarations

Ethics approval and consent to participate

This study was conducted in accordance with the ethical principles of the Declaration of Helsinki and its later amendments. Ethical approval was granted by the Portuguese Directorate-General for Education (No. 1594500001). Written informed consent was obtained from all participants prior to participation.

Consent for publication

Participants provided informed consent for the use of anonymized data for research and publication purposes.

Competing interests

The authors declare no competing interests.