Mitochondria, the organelles classically seen as the powerhouse of the cell, are increasingly associated with a wide variety of neurodevelopmental disorders. Although individually rare, a myriad of pediatric neurogenetic disorders have been identified in the last few years, thanks to advances in clinical genetic sequencing and data analysis. As this exponential growth continues, mitochondrial dysfunction is increasingly implicated in childhood neurodevelopmental disorders, with clinical presentations ranging from syndromic autism, intellectual disability, and epileptic encephalopathies to childhood onset neurodegeneration. Here we review recent evidence demonstrating mitochondrial involvement in neurodevelopmental disorders, identify emerging mechanistic trends, and reconsider the long-standing question of the role of mitochondria in light of new evidence: causation versus mere association.
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http://dx.doi.org/10.1159/000517870 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6.
Although chromatin remodelers are among the most important risk genes associated with neurodevelopmental disorders (NDDs), the roles of these complexes during brain development are in many cases unclear. Here, we focused on the recently discovered ChAHP chromatin remodeling complex. The zinc finger and homeodomain transcription factor ADNP is a core subunit of this complex, and de novo mutations lead to intellectual disability and autism spectrum disorder.
View Article and Find Full Text PDFAndes Pediatr
August 2023
Facultad de Medicina, Universidad de Chile, Santiago, Chile.
Unlabelled: Early detection of Autism is a challenge in Chile and Latin America. Gold-standard evaluations are expensive and difficult to access. The Autism Mental Status Exam (AMSE) is a brief, structured, observational instrument for clinical use with promising results.
View Article and Find Full Text PDFAndes Pediatr
August 2023
Universidad del Desarrollo, Santiago, Chile.
Early detection and referral of autism spectrum disorder (ASD) are key in promoting the development of affected children. Recently, a law was enacted that indicates screening for ASD in health care services. This law represents a challenge for pediatricians working in outpatient care.
View Article and Find Full Text PDFAnesthesiology
February 2025
Department of Anaesthesia and Pain Management, Royal Children's Hospital, Melbourne, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Background: The general anaesthesia or awake-regional anaesthesia in infancy (GAS) trial demonstrated evidence that most neurodevelopmental outcomes at 2 and 5 yr of age in infants who received a single general anesthetic for elective inguinal herniorrhaphy were clinically equivalent when compared to infants who did not receive general anesthesia. More than 20% of the children in the trial had at least one subsequent anesthetic exposure after their initial surgery. Using the GAS database, this study aimed to address whether multiple (two or more) general anesthetic exposures compared to one or no general anesthetic exposure in early childhood were associated with worse neurodevelopmental outcomes at 5 yr.
View Article and Find Full Text PDFEur J Pediatr
January 2025
CESTA VON, Bratislava, Slovakia.
Unlabelled: High rates of childhood neurodisability are reported among the Roma, Europe's largest ethnic minority community. Interventions targeting early child development (ECD) during the first 2 years of life can improve neurodevelopmental outcomes in vulnerable children; however, evidence from Roma preschoolers is scarce. In a quasi-experimental observational study, we compared neurodevelopmental outcomes at age 2 years, measured on the INTERGROWTH-21st Project Neurodevelopmental Assessment (INTER-NDA), between Roma children receiving a community-based ECD intervention (RI, n = 98), and age- and sex-matched Roma and non-Roma children (RC, n = 99 and NRC, n = 54, respectively) who did not receive the intervention in Eastern Slovakia.
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