Pubmed du 27/04/25
1. Durak S, Tahıllıoğlu A, Yazan Songür Ç, Çoban M, Varol B, Ercan ES. Differentiating pure cognitive disengagement syndrome and attention-deficit/hyperactivity disorder-restrictive inattentive presentation with respect to depressive symptoms, autistic traits, and neurocognitive profiles. Appl Neuropsychol Child;2025 (Apr 27):1-11.
This study aimed to differentiate « pure » cognitive disengagement syndrome (CDS) from attention-deficit/hyperactivity disorder-restrictive inattentive presentation (ADHD-RI) by examining their neurocognitive profiles and associations with autistic traits (ATs) and depressive symptoms. A cross-sectional study was conducted involving three groups: pure CDS (n = 24), ADHD-RI (n = 32), and controls (n = 31). Participants underwent neuropsychological assessments using Computerized Neurocognitive Assessment Software (CNS) Vital Signs, alongside evaluations for ATs with the Autism Spectrum Screening Questionnaire, depressive symptoms with the Children’s Depression Inventory, and CDS symptoms with the Barkley Child Attention Scale. A semi-structured interview was also conducted with all participants and their parents to ensure the diagnostic validity of the groups. Findings indicated no dimensional symptomatological distinctions between CDS and ADHD-RI, except for CDS symptoms, and demonstrated no significant differences in neurocognitive test profiles between CDS and ADHD-RI, except for the neurocognition index and reaction time. ATs and depressive symptoms did not significantly differ between the pure CDS and ADHD-RI groups but were significantly elevated in both groups compared to controls. The ADHD-RI group exhibited significantly worse performance than CDS concerning the neurocognition index and reaction time, and worse than controls regarding the neurocognition index, reaction time, psychomotor speed, and complex attention. This study elucidates that ADHD-RI and « pure » CDS have substantially overlapping neurocognitive and phenotypic profiles despite certain minor differences, which is detrimental to subjects with ADHD-RI in terms of overall neurocognition and reaction time. It can be argued that, compared to « pure » CDS, executive dysfunction might be slightly more specific to ADHD-RI, while depressive symptoms and ATs are common in both psychological constructs.
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2. Farmiloe G, Bejczy V, Tabolacci E, Willemsen R, Jacobs F. Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome. J Neurodev Disord;2025 (Apr 26);17(1):22.
BACKGROUND: Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the expansion of a CGG repeat in the 5’UTR of the FMR1 (fragile X messenger ribonucleoprotein 1) gene. Healthy individuals possess a repeat 30-55 CGG units in length. Once the CGG repeat exceeds 200 copies it triggers methylation at the locus. This methylation covers the FMR1 promoter region and silences expression of the gene and the production of FMRP (fragile X messenger ribonucleoprotein). The loss of FMRP is responsible for a number of pathologies including neurodevelopmental delay and autism spectrum disorder. Methylation of the expanded repeat in the FMR1 locus is the causal factor for FXS, however it is not known why the expanded repeat triggers this epigenetic change or how exactly DNA methylation is established. Intriguingly, genetic engineering of expanded CGG repeats of over 300 copies in the FMR1 locus in mice remains unmethylated. Also in humans, in very rare cases, individuals can have an FMR1 CGG expansion > 200 copies but the locus remains unmethylated. These unmethylated full mutation (UFM) individuals give us a rare opportunity to investigate the mechanism of FMR1 promoter methylation. METHODS: Fibroblasts were obtained from a healthy control, an FXS patient and two unmethylated full expansion carriers. RNA was extracted and comparative transcriptomic analysis was performed on all samples. Whole genome sequencing was carried out on DNA from the two UFM carriers and the results analysed to investigate DNA variants that could explain the observed differences in gene expression. RESULTS: Our analyses focused on genes involved in epigenetic modification. We show that Tet methylcytosine dioxygenase 3 (TET3), a gene involved in DNA methylation, is significantly downregulated in UFM carriers compared to healthy controls or FXS patient derived cells. Genomic analyses reveal a number of rare variants present in the TET3 locus in UFM carriers when compared to the reference genome. However, no clear modifying TET3 variants were identified. CONCLUSION: Our results suggest that TET3 is a candidate factor responsible for the lack of methylation of the expanded FMR1 locus. Further analyses are needed to further elucidate this relationship, however given its potential to directly interact with CGG repeats and its ambiguous role in 5-hydroxy-methylation of CG containing sequences, TET3 is a strong candidate for further exploration.
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3. Meera SS, Swaminathan D, Pawar R, Yankowitz L, Donovan K, Khuu K, Parish-Morris J, Warren SF, Estes A, Zwaigenbaum L, Clements M, Anderson DV, Schultz RT, Hazlett HC, John TS, Pandey J, Marrus N, Botteron K, Dager SR, Swanson MR, Watson LR, Piven J. Evaluating canonical babbling ratios extracted from day-long audio recordings in infants later diagnosed with autism spectrum disorder. Infant Behav Dev;2025 (Apr 25);79:102059.
Canonical babbling (CB) is a critical developmental milestone that typically occurs in the second half of the first year of life. Studies focusing on CB in infants at elevated familial likelihood for autism spectrum disorder (ASD) or who later receive an ASD diagnosis are limited and the evidence is mixed. CB comprises a series of canonical syllables (CS) which are defined as the rapid transitions between consonant-like sounds paired with vowel-like sounds (e.g., [gugugu]). One way of measuring CB is by computing canonical babbling ratio (CBR) i.e. total number of CS divided by the total number of syllables. If the child has reached the criterion of 0.15 CBR it is said that they have achieved the CB stage. For several years now, CB has been measured using short lab based or home-based video recordings which may not represent a child’s natural vocalization pattern since child vocalizations fluctuate throughout the day. Day long audio recordings, that capture a child’s vocalizations throughout the day, has the potential to overcome this limitation. Therefore, the current study aimed to answer whether CBRs computed from day-long audio recordings using the language environment analysis (LENA®) were different among infants at elevated familial likelihood for ASD who receive an ASD diagnosis (EL-ASD; n = 11), who did not receive an ASD diagnosis (EL-Neg; n = 32) and infants at low likelihood for ASD (LL-Neg; n = 25) at 9 and 15 months. The study also aimed to evaluate if there are group differences in reaching the canonical babbling stage at 9 and 15 months and are CBRs at 9 and 15 months associated with later language abilities at 24 months. Findings indicated no group differences in mean CBRs at 9 and 15 months and no association with later language abilities. However, we found that children in the EL-ASD group were less likely to reach the 0.15 CBR threshold for being in the canonical babbling stage by 9 months of age. Thus, suggesting that a diagnosis of ASD is associated with delays in CB for some children. Future work in this area must include a larger sample and more standardized annotation protocols to harmonize results across studies and ensure replication.
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4. Wilson N, Gajwani R, Fleming M, Findlay M, Stocks H, Walker G, Corcoran N, Minnis H. Physical health trajectories of young people with neurodevelopmental conditions: a protocol for a systematic review of longitudinal studies. BMJ Open;2025 (Apr 27);15(4):e090823.
INTRODUCTION: There is now emerging evidence to suggest a longitudinal association between specific neurodevelopmental conditions (NDCs) in childhood or adolescence (ie, autism, attention deficit hyperactivity disorder (ADHD) and tic disorders) and certain physical long-term conditions (LTCs) in adulthood. However, to date, this literature has never been comprehensively collated and appraised. As a result, our understanding of all the future health risks that young people with NDCs may collectively be at risk of is limited, and the factors which drive these adult health outcomes also remain obscure. METHODS AND ANALYSIS: A search strategy has been developed in collaboration with two medical librarians and will be used to conduct systematic searches of MEDLINE, EMBASE, APA PsycINFO, CINAHL and Web of Science. Prospective longitudinal studies exploring the association between three common NDCs in childhood or adolescence (ie, ADHD, autism and tic disorders <18 years of age) and any physical LTC in adulthood (ie, >18 years of age) will be selected through title and abstract review, followed by a full-text review. Data extracted will include the definition of exposure and outcome, mediators or moderators investigated, confounders adjusted for, and crude and adjusted effect estimates. Risk of bias assessment will be conducted. Results will be synthesised narratively and, if the data allow, a meta-analysis will also be conducted. ETHICS AND DISSEMINATION: Ethics approval is not applicable for this study since no original data will be collected. The results of the review will be widely disseminated locally, nationally and internationally through peer-reviewed publications, adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement, and conference presentations. PROSPERO REGISTRATION NUMBER: CRD42024516684.
