What Comes Next?: Follow Through Care for Infants with Rare Genetic Conditions
Health Services and Implementation
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Primary Categories:
- Health services and Implementation
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Secondary Categories:
- Health services and Implementation
Introduction:
Increasing use of genomic sequencing (such as exome or genome sequencing), for neonates and infants has enabled early diagnosis of rare genetic syndromes. Although these neonates and infant often experience medical complexity and are at risk for developmental delay, supportive care following a diagnosis is widely variable, particularly for medically-underserved or minoritized populations. Developmental follow-up programs, implemented to support infants following neonatal intensive care unit (NICU) discharge, have proven to be beneficial to infants born preterm. We extended this care model to create a novel specialized follow-up clinic for infants with genetic syndromes, regardless of history of prematurity or NICU admission. In order to assess the impact of longitudinal medical and developmental support for infants with rare genetic syndromes, and identify potential gaps in care, we reviewed outcomes for infants seen over the first five years in our novel follow-up program.
Methods:
Retrospective analysis of infants with genetic syndromes seen in a specialized infant follow-up clinic from 2019-2024, involving biannual visits with a multidisciplinary team (genetics, neonatology, developmental medicine, physical therapy) until age three. Outcomes evaluated included establishment of Early Intervention (EI) services prior to the first clinic visit and unmet needs at subsequent visits. These were considered in light of age at genetic diagnosis, age at clinic referral, race/ethnicity, and primary language. Multivariable logistic regression models were constructed for the outcome of established EI services, with mixed-effects models used to evaluate the impact of time on this outcome.
Results:
91 infants were identified, of whom 46 (51%) were female and most (63, 69%) were born full term with median gestational age at birth of 37 weeks (interquartile range [IQR] 36-39). Seven diagnoses were made prenatally, and the median age at postnatal genetic diagnosis was 1.5 months (IQR 0.5-7.25 months). Recurrent diagnoses included 22q11 deletion syndrome (7), CHARGE syndrome (4), and Beckwith Wiedemann syndrome (3) among others. Most (68, 75%) had a history of NICU admission with a median NICU length of stay of 32 days (interquartile range 7-60 days). The majority of the patients identified as white, non-Hispanic/Latine (53, 58%), and 26 (29%) of the cohort identified as Hispanic/Latine (white or other races). Fourteen (15%) required an English language interpreter.
At the first clinic visit, at a median age of 9 months (IQR 6-16.75 months), 15 (16%) infants had not yet established EI services, and 65 (74%) had unmet developmental service needs. Additionally, many were in need of neurosensory screening: 32 (35%) required referral to ophthalmology and 37 (41%) to audiology for vision and hearing evaluation, respectively. Receipt of physical therapy remained relatively constant over time, and receipt of occupational therapy (OT) and speech therapy (ST) significantly increased with each subsequent visit (OT: odds ratio, OR, 1.4, 95% confidence interval, CI, 1.0-1.9, p = 0.04; ST: OR 2.4, 95% CI 1.8-3.6, p < 0.001). Unmet service needs decreased over time: changes to the EI regimen were less likely to be recommended with each subsequent visit (OR 0.7, 95% CI 0.5-0.8, p < 0.001). Autism was diagnosed in 10 (11%) infants, at a median age of 25 months. In a multivariable model, race, ethnicity, age at diagnosis, and history of prematurity or NICU admission were not associated with receipt of EI services at the first clinic visit, although non-English primary language was associated with decreased odds of receipt of EI services at this timepoint (aOR = 0.7, 95% CI 0.5 - 1.0, p = 0.049).
Conclusion:
Infants with rare conditions are not receiving the early developmental supports they need following genetic diagnosis, even those discharged from a NICU. A collaborative and longitudinal developmental support program addresses gaps in care for these infants.
Increasing use of genomic sequencing (such as exome or genome sequencing), for neonates and infants has enabled early diagnosis of rare genetic syndromes. Although these neonates and infant often experience medical complexity and are at risk for developmental delay, supportive care following a diagnosis is widely variable, particularly for medically-underserved or minoritized populations. Developmental follow-up programs, implemented to support infants following neonatal intensive care unit (NICU) discharge, have proven to be beneficial to infants born preterm. We extended this care model to create a novel specialized follow-up clinic for infants with genetic syndromes, regardless of history of prematurity or NICU admission. In order to assess the impact of longitudinal medical and developmental support for infants with rare genetic syndromes, and identify potential gaps in care, we reviewed outcomes for infants seen over the first five years in our novel follow-up program.
Methods:
Retrospective analysis of infants with genetic syndromes seen in a specialized infant follow-up clinic from 2019-2024, involving biannual visits with a multidisciplinary team (genetics, neonatology, developmental medicine, physical therapy) until age three. Outcomes evaluated included establishment of Early Intervention (EI) services prior to the first clinic visit and unmet needs at subsequent visits. These were considered in light of age at genetic diagnosis, age at clinic referral, race/ethnicity, and primary language. Multivariable logistic regression models were constructed for the outcome of established EI services, with mixed-effects models used to evaluate the impact of time on this outcome.
Results:
91 infants were identified, of whom 46 (51%) were female and most (63, 69%) were born full term with median gestational age at birth of 37 weeks (interquartile range [IQR] 36-39). Seven diagnoses were made prenatally, and the median age at postnatal genetic diagnosis was 1.5 months (IQR 0.5-7.25 months). Recurrent diagnoses included 22q11 deletion syndrome (7), CHARGE syndrome (4), and Beckwith Wiedemann syndrome (3) among others. Most (68, 75%) had a history of NICU admission with a median NICU length of stay of 32 days (interquartile range 7-60 days). The majority of the patients identified as white, non-Hispanic/Latine (53, 58%), and 26 (29%) of the cohort identified as Hispanic/Latine (white or other races). Fourteen (15%) required an English language interpreter.
At the first clinic visit, at a median age of 9 months (IQR 6-16.75 months), 15 (16%) infants had not yet established EI services, and 65 (74%) had unmet developmental service needs. Additionally, many were in need of neurosensory screening: 32 (35%) required referral to ophthalmology and 37 (41%) to audiology for vision and hearing evaluation, respectively. Receipt of physical therapy remained relatively constant over time, and receipt of occupational therapy (OT) and speech therapy (ST) significantly increased with each subsequent visit (OT: odds ratio, OR, 1.4, 95% confidence interval, CI, 1.0-1.9, p = 0.04; ST: OR 2.4, 95% CI 1.8-3.6, p < 0.001). Unmet service needs decreased over time: changes to the EI regimen were less likely to be recommended with each subsequent visit (OR 0.7, 95% CI 0.5-0.8, p < 0.001). Autism was diagnosed in 10 (11%) infants, at a median age of 25 months. In a multivariable model, race, ethnicity, age at diagnosis, and history of prematurity or NICU admission were not associated with receipt of EI services at the first clinic visit, although non-English primary language was associated with decreased odds of receipt of EI services at this timepoint (aOR = 0.7, 95% CI 0.5 - 1.0, p = 0.049).
Conclusion:
Infants with rare conditions are not receiving the early developmental supports they need following genetic diagnosis, even those discharged from a NICU. A collaborative and longitudinal developmental support program addresses gaps in care for these infants.