Diagnostic journey timeline

From the interview, we identified four major phases of the diagnostic journey timeline: (1) time between first concerns and provider validation, (2) time between first concerns and developmental diagnosis, (3) time between first concerns and genetic diagnosis, and (4) time between genetic diagnosis and specialist referral. Average values for individuals younger than 18 years were computed and evaluated for each phase of the timeline. Individuals older than 18 years were analyzed separately. The following results depict the diagnostic journey timeline that precedes a developmental and genetic diagnosis for individuals younger than 18 in our study.

First developmental concerns

For families of children younger than 18, age of first concerns ranged from birth to 60 months. In our sample, 58% of caregivers reported motor delays as the first concern, and 33% reported speech delays. First concerns were not always related to developmental observations, as 27% of caregivers reported medical issues (e.g., feeding issues, heart problems, seizures) as their first concern. Identified by 22% of caregivers, feeding concerns (e.g., issues with latching, vomiting, weight loss) within the first 6 months of life were the most common medical concern reported. Other first concerns included social communication delays (19%) and behavioral issues (15%).

Phase 1: first concerns and provider validation

On average, caregivers of individuals younger than 18 waited 5 months before their concerns were validated by a medical provider. Some caregivers reported immediate validation from their first provider, while others waited up to 2 years to find a medical provider who validated their initial concerns. One caregiver reported seeing four pediatricians within the first year due to lack of provider validation. Five caregivers indicated that medical providers attempted to assuage initial concerns, most notably when the child was younger than 12 months, by emphasizing the variability in developmental trajectories. As articulated by one caregiver, “We kept bringing up our concerns to the pediatrician at every baby check-up, and he kept advising we wait it out. He insisted that boys are slower sometimes, and that we didn’t need to be concerned so early on.”

Phase 2: first concerns and developmental diagnosis

The average duration from the caregiver’s first expressed concerns to formal neurodevelopmental diagnosis was 17 months, ranging from < 1 to 70 months for our participants younger than 18. One caregiver reported: “Our pediatrician did not take mental health seriously. No one was helping us even though our daughter was having outbursts and hurting people.” Caregivers noted that this lag in time resulted in an incurred financial burden as well. Without a formal diagnosis, families paid out of pocket for services. Discrepancies in diagnosis between providers accounted for another significant barrier. One caregiver reported that her child, who was initially diagnosed with ASD by a California Regional Center at 30 months, had her diagnosis changed at 36 months of age by the school district. She was subsequently denied services based on the new diagnosis alone.

Phase 3: first concerns and genetic diagnosis

Among participants younger than 18 years old, the lag in obtaining a genetic diagnosis averaged 30 months. Two individuals were immediately tested at birth due to either presentation of dysmorphic features or risk of a hereditary variant, while two others were tested shortly after due to significant medical concerns (e.g., seizures, heart dysfunction). The maximum wait time in our sample was 138 months. Families commonly struggled with insurance coverage for genetic testing, with one family reporting waiting over 3 years to receive genetic testing due to insurance authorization difficulties. Waitlists for appointments with geneticists and a lack of provider validation also led to delays in diagnosis at this phase. In cases where there was an existing neurodevelopmental diagnosis in place, some physicians did not recommend further genetic testing. In one case, a caregiver reported that her daughter’s neurologist did not believe there to be any genetic issues linked to her hypotonia and failure to thrive diagnoses, and she was advised to wait instead of seek testing. Caregivers reflected on the stress of navigating a child’s condition without a confirmed genetic diagnosis. As articulated by one caregiver, “It was eight years of agony not knowing what was wrong but knowing something wasn’t right.” Another caregiver commented on how receiving genetic testing results provided their family peace of mind: “It can only help you help your child more. It’s worth the initial fear and anxiety.”

Phase 4: genetic diagnosis and specialist referral

On average, families of children under 18 years old waited 3 months following their genetic diagnosis to meet with a specialist to discuss next steps in clinical management, with a range of 0 to 36 months. This was the shortest phase in the diagnostic timeline, as most families received the diagnosis from the ordering specialist. Therefore, the greatest barrier involved wait times for appointments with the referred specialist.

Phase comparison: evaluating timeline differences based on order of diagnosis

The average values for each phase of the timeline were evaluated based on whether families received a developmental or genetic diagnosis first (Table 1). Two different timeline patterns described the general trajectory that families encountered based on whether they first received a genetic or developmental diagnosis (Figs. 2 and 3).

Table 1 Average values of diagnostic timeline compared between order of diagnosisFig. 2

Diagnostic journey timeline for patients receiving developmental diagnosis before genetic diagnosis

Fig. 3

Diagnostic journey timeline for patients receiving genetic diagnosis before developmental diagnosis

The average gaps between key points of the journey were slightly shorter for the group who received a genetic diagnosis first. The combined time between receiving both neurodevelopmental and genetic diagnoses following initial concerns, however, was found to be similar in both groups, averaging approximately 4 years. Notably, the average amount of time elapsed between first concerns and developmental diagnosis for children who received a genetic diagnosis first was just over 3 years (37.8 months).

Barriers to patient care

We assessed the types of barriers that all participating families experienced throughout the diagnostic journey. All caregivers interviewed (n = 37) were asked to evaluate via “yes” or “no” responses if certain barriers factored into their child’s diagnostic delays. A total of 59% of all caregivers (n = 22) reported wait time to meet with a specialist as a significant barrier to their diagnostic journey. A total of 49% of caregivers (n = 18) experienced problems with insurance. Some caregivers paid out of pocket for therapies and other health services that their child required, while others dealt with insurance authorization issues that significantly delayed genetic testing. A total of 35% of caregivers (n = 13) had difficulty accessing care in their area, and 41% of caregivers (n = 15) reported experiencing inadequate genetic counseling at the time of diagnosis. In cases where the ordering provider was a pediatrician or neurologist (n = 9), only one family was not appropriately referred to a genetic specialist after receiving their results. In some cases, caregivers reported that their physician lacked knowledge about their child’s specific genetic condition, often due to its rarity. One caregiver of a child with a FOXG1 variant recalled her experience meeting with a geneticist. “The doctor gave us the results, then left for about an hour to do some research on the finding, as he admitted he was unprepared. He came back with a couple of case studies and apologized that he didn’t have more information to give.” Another caregiver similarly reflected on insufficient counseling, as her family was told very little information about the diagnosis and was further advised to “not read up too much on it” due to a lack of available knowledge on the disorder and prognosis.

Self-advocacy

Caregivers emphasized the importance of self-advocacy while navigating the diagnostic journey, even when their own intuition may have been incongruous with physician expertise. When asked what type of advice they would give other families going through this process, caregivers stated: “Don’t take no for an answer,” and “Just keep fighting; don’t give up.” Other caregivers reported, “Be your child’s advocate and voice. Do your homework and don’t expect others to do it for you,” as well as, “Don’t assume that doctors or nurses know. Be assertive.”

Patient advocacy groups

Among all participants, 76% of families (n = 28) reported PAG participation. Of those participating in a PAG, 68% of families (n = 19) indicated that they had confidence in how to proceed with the next steps in care for their child. In contrast, 44% of families who were not members of a PAG (n = 4) indicated confidence in next steps. Caregivers of children under 3 years of age reported the highest PAG participation and confidence in their next steps in clinical care across our sample (Table 2).

Table 2 Involvement in PAG and confidence in next steps across age groups

Some families were unable to participate due to lack of an existing PAG specific to their child’s genetic condition. A few families chose not to participate in a PAG, reflecting that phenotypic variability, including variable symptomatology, could be discouraging. For example, one caregiver noted: “I wish I knew less. Parents tend to post everything.”

Diagnosis and clinical care for adults

There were more delays in the diagnostic timelines for adults compared to the children (Table 3). On average, caregivers of adults reported waiting 261 months, almost 22 years, after voicing their initial concerns, before receiving a genetic diagnosis confirming their child’s condition. Families therefore had to navigate the logistical barriers associated with accessing services without a genetic diagnosis. For instance, families experienced issues with sustained funding for services provided by government-funded nonprofit agencies. All four caregivers similarly expressed disappointment in genetic counseling and overall management of their adult children. One caregiver reflected: “No one has a handle on what’s going on. There are all of these providers, but no answers.”

Table 3 Average values of diagnostic timeline compared across age groups