Developmental Support for Infants With 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.

Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

“…For many, a genetic diagnosis can be life changing, even in the absence of a therapeutic option (Lingen et al, 2016). Following diagnosis, quality of life is often improved by participation in support groups that can provide longitudinal prognostic information, genetic counseling, and informed reproductive decisions with opportunities for preimplantation genetic diagnosis or prenatal testing particularly in the case of inherited variants where there is a sizable recurrence risk (Sexton et al, 2008;Wojcik et al, 2020).…”

Newborn screening for neurodevelopmental diseases: Are we there yet?

“…Rarely, there are effective treatments available such as the ketogenic diet for glucose transporter 1 deficiency syndrome (Klepper et al, 2020). While none of the supportive treatments available are curative for most NDDs, early intervention has been demonstrated to improve outcomes for Down Syndrome and other NDDs (Fidler et al, 2021;Guralnick, 2010Guralnick, , 2011Pinero-Pinto et al, 2020;Wojcik et al, 2020). Furthermore, in the conceptual framework established with SMA, the concurrent pilot NBS study and clinical trial with nusinersen were structured to co-evolve, enabling early identification of newborns during a critical therapeutic window in which treatments were most efficacious.…”

“…EIP includes services and supports available to young children with developmental delays and disabilities by teaching them through additional support and repetition how to best adapt with their limitations and use their relative strengths. It has been shown to improve outcomes and minimize the burden of associated behavioral conditions including autism (Bonnier, 2008; Purpura et al, 2014; Wojcik, Stewart, Waisbren, & Litt, 2020). In a randomized clinical trial in infants age 9–14 months showing early behavioral signs of autism, EIP demonstrated reduced autism symptom severity and reduced likelihood of an eventual autism diagnosis (Whitehouse et al, 2021).…”

Race, language, and neighborhood predict high-risk preterm Infant Follow Up Program participation

“…Third, our study is limited by the focus on preterm infants. While this is an important population, the high-risk infant population requiring specialized follow up also includes infants with hypoxic-ischemic encephalopathy, genetic disorders 38 and those requiring surgery. 39 …”