Feasibility of a syndrome‐informed micro‐intervention for infants with Down syndrome

Abstract

Background Infants with Down syndrome (DS) are at risk for a range of phenotypic outcomes, including delays in the onset of reaching behaviour, a critical skill that facilitates early learning. This parallel‐group feasibility and pilot study presents findings from a parent‐mediated micro‐intervention that aimed to support the development of reaching behaviour in a sample of infants with DS. Methods Participants were 73 infants with DS and their caregivers. Infants who qualified for the home‐based intervention (based on manual skill performance on Bayley Scales of Infant and Toddler Development, Third Edition items) were randomly assigned individually or by geographical region to a treatment or an alternative treatment condition that involved toy‐based interactions with caregivers. Infants in the treatment condition experienced facilitated reaching during the toy‐based interactions through the use of Velcro‐affixed mittens and toys. Results Forty‐two infants met criteria to participate in the intervention, and 37 participated in both baseline and post‐treatment visits. At post‐treatment, infants in the treatment condition demonstrated shorter latencies to make contact with objects and showed higher frequencies of reach attempts and swats at objects than infants in the alternative treatment group. These findings were more pronounced when examining a chronological age‐restricted subgroup of infants 5 to 10 months. Conclusions Findings suggest that a syndrome‐informed approach to targeted intervention may be a promising application of phenotyping science in DS and other neurogenetic conditions associated with intellectual disability.

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.…”

Early developmental profiles among infants with Down syndrome

“…Despite the complexity of these potential associations and how they may unfold over time, it is important to identify and characterise sources of developmental profile variability in young children with DS. Shedding light on these issues is of interest in research and in clinical settings, as it can promote tailored, early interventions and guidance (Fidler et al ., 2021). Planning more specific interventions may positively influence developmental trajectories, thereby improving the quality of life for individuals with DS.…”

Infant precursors of executive function in Down syndrome

“…Infant action planning was measured with a reaching task (Barrett et al 2008). A similar version of this measure is described in Fidler et al (2021), which reported findings on a subset of infants with DS included in the current study. Two balls, each with different properties (varying soft textures), were placed in front of the infant at midline, one at a time.…”