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Updated: Dec 23, 2025
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Developmental Support for Infants With Genetic Disorders
Monica H Wojcik1,2, Jane E Stewart3,4, Susan E Waisbren2
1Divisions of Newborn Medicine and monica.wojcik@childrens.harvard.edu.
Insights
Infants diagnosed with genetic disorders are at high risk for neurodevelopmental disabilities. Early developmental support programs are crucial for these infants, but are currently rare and need further research.
Area of Science:
- Genetics
- Neurodevelopmental Pediatrics
- Developmental Biology
Background:
- Genetic diagnostic capabilities are rapidly advancing, leading to earlier identification of infants with genetic disorders.
- Many genetic diagnoses are linked to developmental delay and intellectual disability, often not apparent at birth.
- This creates an emerging patient population at high risk for neurodevelopmental disabilities.
Purpose of the Study:
- To review existing developmental assessment and intervention approaches for children with genetic disorders.
- To evaluate these approaches in the context of current post-NICU developmental supports for preterm infants.
- To highlight the need for further research into specialized developmental support for neonates with genetic diagnoses.
Main Methods:
- Literature review of developmental assessment and intervention strategies for genetic disorders.
- Analysis of current developmental support programs for high-risk infants, particularly preterm infants post-NICU discharge.
- Evaluation of the applicability and impact of existing interventions for infants with genetic conditions.
Main Results:
- Established developmental supports exist for high-risk infants, especially preterm infants after NICU discharge.
- Specialized developmental programs for infants with genetic diagnoses are currently rare.
- The impact of early developmental interventions on infants with genetic disorders, including term-born infants, requires further investigation.
Conclusions:
- Neonates and infants with genetic diagnoses represent a high-risk group for neurodevelopmental disabilities.
- There is a critical need for the development and research of targeted early assessment and intervention programs for these infants.
- Further research is essential to understand and optimize developmental support for infants with rare genetic disorders.
Abstract:
As the technical ability for genetic diagnosis continues to improve, an increasing number of diagnoses are made in infancy or as early as the neonatal period. Many of these diagnoses are known to be associated with developmental delay and intellectual disability, features that would not be clinically detectable at the time of diagnosis. Others may be associated with cognitive impairment, but the incidence and severity are yet to be fully described. These neonates and infants with genetic diagnoses therefore represent an emerging group of patients who are at high risk for neurodevelopmental disabilities. Although there are well-established developmental supports for high-risk infants, particularly preterm infants, after discharge from the NICU, programs specifically for infants with genetic diagnoses are rare. And although previous research has demonstrated the positive effect of early developmental interventions on outcomes among preterm infants, the impact of such supports for infants with genetic disorders who may be born term, remains to be understood. We therefore review the literature regarding existing developmental assessment and intervention approaches for children with genetic disorders, evaluating these in the context of current developmental supports postdischarge for preterm infants. Further research into the role of developmental support programs for early assessment and intervention in high-risk neonates diagnosed with rare genetic disorders is needed.
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