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What comes next? Follow through care after genetic diagnosis in infancy

Courtney P Verscaj1, Anna-Therese Mehra1, Samara Shahjahan1

  • 1Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.

Pediatric Research
|May 21, 2026
PubMed

Insights

Infants with genetic disorders often lack developmental support after diagnosis. A specialized follow-up program improved developmental support access and reduced unmet needs for these medically complex infants.

Area of Science:

  • Pediatric Genetics
  • Developmental Pediatrics
  • Healthcare Management

Background:

  • Infants with genetic diagnoses frequently face medical complexity and developmental delays.
  • Infant follow-up programs are established as beneficial for preterm infants.
  • The impact of these programs on neonates with genetic disorders requires evaluation.

Purpose of the Study:

  • To assess the effectiveness of a multidisciplinary infant follow-up clinic for neonates with genetic disorders.
  • To identify gaps in developmental service establishment and ongoing support.
  • To evaluate factors influencing access to early intervention services.

Main Methods:

  • Retrospective observational cohort analysis of 104 infants with genetic syndromes (2019-2024).
  • Primary outcomes: establishment of developmental services and unmet needs.
  • Analysis of clinical and socio-demographic factors influencing care.

Main Results:

  • 15.4% of infants lacked early intervention services at initial visits.
  • 81.8% had unmet developmental needs.
  • Non-English primary language families had reduced odds of receiving services (aOR=0.73).
  • Program involvement significantly decreased unmet needs over time (OR 0.93).

Conclusions:

  • Genetic diagnoses do not guarantee routine developmental support.
  • Structured follow-up programs can address critical gaps in care for infants with genetic conditions.
  • Further evaluation of program accessibility and scalability is essential.
Abstract

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