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Background and Objectives: Our aim was to assess genetic and environmental effects on surface morphological parameters for quantifying anterior cingulate cortex (ACC) changes in middle- to advanced-age East Asians using twin analysis. Materials and Methods: Normal twins over 39 years old comprising 37 monozygotic pairs and 17 dizygotic pairs underwent 3-dimensional (3D) T1-weighted imaging of the brain at 3T. Freesurfer-derived ACC parameters including thickness, standard deviation of thickness (STDthickness), volume, surface area, and sulcal morphological parameters (folding, mean, and Gaussian curvatures) were calculated from 3D T1-weighted volume images. Twin analysis with a model involving phenotype variance components of additive genetic effects (A), common environmental effects (C), and unique environmental effects (E) was performed to assess the magnitude of each genetic and environmental influence on parameters. Results: Most parameters fit best with an AE model. Both thickness (A: left 0.73/right 0.71) and surface area (A: left 0.63/right 0.71) were highly heritable. STDthickness was low to moderately heritable (A: left 0.48/right 0.29). Volume was moderately heritable (A: left 0.37). Folding was low to moderately heritable (A: left 0.44/right 0.28). Mean curvature (A: left 0.37/right 0.65) and Gaussian curvature (A: right 0.79) were moderately to highly heritable. Right volume and left Gaussian curvature fit best with a CE model, indicating a relatively weak contribution of genetic factors to these parameters. Conclusions: When assessing ACC changes in middle- to advanced-age East Asians, one must keep in mind that thickness and surface area appear to be strongly affected by genetic factors, whereas sulcal morphological parameters tend to involve environmental factors. [ABSTRACT FROM AUTHOR]

Objective: The objective of this systematic review is to explore the experiences of siblings of children with profound intellectual and multiple disabilities., Introduction: With improved life expectancy of children with profound intellectual and multiple disabilities, the research focus is on care at home and in the community. Although parents are the primary caregivers, siblings often assume the role of young caregivers, bearing the weight of caregiving responsibilities. Thus, a synthesis of qualitative findings is required regarding their experiences to facilitate the development of effective support strategies., Inclusion Criteria: Siblings of children with profound intellectual and multiple disabilities will be included, defined as children with an IQ of ≤40 or mental development below a 2-year-old's level, coupled with an inability to walk independently. Disabled children aged <20 years will be included. There will be no restrictions on the siblings' age or type of relationship. Qualitative studies on experiences, caregiving burdens, challenges, difficulties, and frustration in daily life will be considered, covering home, community, school, and hospital settings for children with disabilities., Methods: We will follow the JBI methodology for systematic reviews of qualitative evidence. The search strategy will be conducted in 3 phases: initial limited search, comprehensive database search, and reference list search of the included articles. The MEDLINE, CINAHL Plus, PsycINFO, Scopus, Ichushi-Web, and CiNii databases will be searched, with no restrictions on language or publication date. Study selection, critical appraisal, data extraction, and data synthesis will be conducted by 2 independent reviewers. We will evaluate the final synthesized findings using the ConQual approach., Systematic Review Registration Number: PROSPERO CRD42024499042., Competing Interests: YK has received research grants and honoraria from Takeda Pharmaceutical Company Limited. The other authors declare no conflict of interest., (Copyright © 2024 JBI.)

Objective: This review aimed to synthesize the experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and the experiences of their families., Introduction: Leukodystrophies are metabolic diseases caused by genetic mutations. There are multiple forms of the disease, varying in age of onset and symptoms. The progression of leukodystrophies worsens central nervous system symptoms and significantly affects the lives of patients and their families., Inclusion Criteria: Qualitative studies on the experiences of patients with leukodystrophies and their family members were included. These experiences included treatments such as enzyme replacement therapy and hematopoietic stem cell transplantation; effects of tracheostomy and gastrostomy; burdens on the family, coordinating care within the health care system, and family planning due to genetic disorders. This review considered studies in any setting., Methods: MEDLINE (Ovid), CINAHL Plus (EBSCOhost), APA PsycINFO (EBSCOhost), Scopus, and MedNar databases were searched on November 18, 2022. Study selection, critical appraisal, data extraction, and data synthesis were conducted in accordance with the JBI methodology for systematic reviews of qualitative evidence, and synthesized findings were evaluated according to the ConQual approach., Results: Eleven studies were eligible for synthesis, and 45 findings were extracted corresponding with participants' voices. Of these findings, 40 were unequivocal and 5 were credible. The diseases in the included studies were metachromatic leukodystrophy and adrenoleukodystrophy; no studies were identified for patients with Krabbe disease and their families. These findings were grouped into 11 categories and integrated into 3 synthesized findings, including i) providing care by family members and health care providers as physical symptoms progress, which relates to the effects of the characteristics of progressive leukodystrophies; ii) building medical teamwork to provide appropriate support services, comprising categories related to the challenges experienced with the health care system for patients with leukodystrophy and their families; and iii) coordinating family functions to accept and cope with the disease, which included categories related to family psychological difficulties and role divisions within the family. According to the ConQual criteria, the second synthesized finding had a low confidence level, and the first and third synthesized findings had a very low confidence level., Conclusions: The synthesized findings of this review provide evidence on the experiences of patients with metachromatic leukodystrophy or adrenoleukodystrophy and their families. These findings indicate that there are challenges in managing a patient's physical condition and coordinating the health care system and family functions., Review Registration: PROSPERO CRD42022318805., Supplemental Digital Content: A Japanese-language version of the abstract of this review is available [ http://links.lww.com/SRX/A49 ]., Competing Interests: YK has received research grants and honoraria from Takeda Pharmaceutical Company Limited. NS has received research grants and honoraria for lectures from Takeda Pharmaceutical Company Limited and JCR Pharmaceuticals. The other authors declare no conflicts of interest., (Copyright © 2024 The Authors. Published by Wolters Kluwer Health, Inc. on Behalf of JBI.)