Recovery from complete cortical blindness is rarely documented in children. We report an 8-year-old with cortical blindness due to POLG1-related mitochondrial disease and status epilepticus. Initial presentation involved complete visual loss for about one month. Early recovery began with conscious color perception, suggesting reactivation of ventral visual pathway functions. Subsequent neuropsychological assessments revealed selective visual impairment, consistent with dorsal simultanagnosia, indicating persistent dorsal pathway dysfunction. These findings highlight differential trajectories of visual recovery after posterior cortical damage and illustrate, in this single case, how metabolic and structural constraints may shape functional reorganization in the developing visual system.
Children with specific learning disorder (SLD) and attention-deficit/hyperactivity disorder (ADHD) may show cognitive differences. We compared WISC-IV scores in 130 children aged 7-13 years (32 SLD, 56 ADHD, 42 comparison) and examined associations with parental education. Groups differed in Verbal Comprehension, Working Memory, Processing Speed, and Full Scale IQ, but not Perceptual Reasoning. The SLD group scored lowest, the ADHD group showed an intermediate pattern, and the comparison group scored highest. Parental education was positively associated with all outcomes, whereas diagnostic-group moderation emerged only for Verbal Comprehension. WISC-IV findings should be interpreted within clinical and psychoeducational assessment.
Norwegian children with cerebral palsy (CP) are offered regular neuropsychological assessments, but little is known about parental perspectives on the assessments. Survey responses from 181 parents were compared with data in the Norwegian Quality and Surveillance Registry for Cerebral Palsy. Parental satisfaction was not associated with the child's IQ, 94% of the parents considered the conclusion accurate/nearly accurate, and 65% believed that the assessment contributed positively to follow-up. Among 63 children reported by parents as having normal cognition, 62 had normal IQ. Among 55 children parents perceived as functioning significantly below age-expected, 32 (58%) were registered with an intellectual disability.
This study examined how anxiety symptoms, emotion regulation, behavioral difficulties, and executive functions co-occur in 150 Romanian early school-age children (5-7 years). Parents completed standardized measures of anxiety, emotion regulation, and behavioral difficulties, while children completed performance-based tasks assessing working memory, inhibition, cognitive flexibility, and affective flexibility. Indirect-effect models showed that emotion regulation statistically accounted for part of the association between anxiety symptoms and behavioral difficulties. Latent profile analysis identified five emotional-executive functioning profiles. Predictive models indicated that affective flexibility and anxiety were the strongest predictors of profile membership. Findings highlight meaningful heterogeneity relevant for future longitudinal research.
This two-stage cross-sectional study investigated the prevalence, subtypes, and associated factors of attention-deficit/hyperactivity disorder (ADHD) among Turkish preschool children. Preschool children attending randomly selected kindergartens in Denizli, Türkiye, were screened using parent and teacher forms of the Turgay DSM-IV Disruptive Disorders Screening and Rating Scale, and screen-positive children underwent diagnostic evaluation with the K-SADS-PL. ADHD prevalence was 9.3% when impairment criteria were applied and 13.8% without impairment criteria. The combined subtype was the most frequent presentation, and anxiety disorder was the most common comorbidity. Younger maternal and paternal ages were associated with increased ADHD likelihood. Findings suggest that ADHD is relatively common among Turkish preschool children.
We investigated the impact of executive functions (EFs) on academic achievement in a quasi-experimental sample of 56 children born preterm (28-34 weeks' gestation; ages 7-9), without neurological impairment, in favorable educational and socioeconomic environments. Using standardized performance-based tests and daily-life proxy reports, we assessed EFs (inhibition, working memory, flexibility, planning) and academic achievement (reading, spelling, mathematics). Children with EF deficits faced a higher risk of academic difficulties (OR 7.87; 95% CI 2.2-35.2), with planning emerging as the most important predictor. A structured, multifaceted assessment of academic achievement and EFs should be systematically included in follow-up.
6q25 microdeletion is a rare syndrome associated with intellectual disability and dysmorphism. However, comorbid Autism Spectrum Disorder (ASD) and Attention Deficit and Hyperactivity Disorder (ADHD) are poorly documented. We report a 16-year-old male with a 6.7 Mb deletion (6q25.1-q25.3) presenting with hydrocephalus, cerebral palsy, and severe behavioral dysregulation. Psychiatric evaluation confirmed comorbid ASD (CARS: 52) and ADHD. Behavioral symptoms and aggression were successfully stabilized using 5 mg/day olanzapine. Our case is the first report of ASD/ADHD co-occurrence in 6q25 syndrome highlights the potential neurobehavioral role of genes like ARID1B and SYNE1. Our findings emphasize the need for comprehensive psychiatric evaluation in rare chromosomal aberrations.
The aims of our study were 1) to adapt, 2) to assess the psychometric properties, and 3) to standardize the Self-Ordered Pointing Test (SOPT) into 4.5- to 7.5-year-old French children. One hundred and seventy-one children participated in the study. Children's performance on the SOPT was sensitive to age but not to gender; it was better in the object than in the abstract condition, and decreased with increasing task difficulty. Reliability indices were moderate. Better performance in the SOPT was associated with higher levels of fluid intelligence and verbal span in the abstract condition. Normative data were provided for clinical use.
No research has explored Theory of Mind (ToM) development in Lebanon, a culturally diverse country that defies the East-West dichotomy. This pilot study aims to adapt a ToM tool for Lebanese children, while examining age-related trends, developmental sequencing, and parental cultural influences. Forty-six children aged 3-11 years, completed the ABC-TOM and standard tasks. Parents completed an Individualism-Collectivism Scale. The internal consistency of the ABC-TOM was correct for the total and cognitive subscales, but questionable for the affective subscale, with good convergent validity with standard measures. An earlier acquisition of knowledge access was observed, with age-related variations. Sequencing patterns also varied according to parental individualism-collectivism. Overall, findings support the ABC-TOM's use and underscore the role of individual-level environmental factors in ToM development.
The present study evaluated the feasibility and utility of the Bayley-III as a predictive tool for identifying executive function (EF) deficits at age 6 among very low birth weight (VLBW) preterm children without severe developmental delays. Eighty-five VLBW children were assessed at age 2 and followed up at age 6. Specific Bayley-III items that demonstrated predictive validity were used to construct a pre-EF scale, which effectively predicted deficits in cognitive flexibility, verbal working memory, and nonverbal working memory but not inhibition or planning. These findings support the utility of early EF assessment in facilitating timely intervention and targeted support.
This study examined the way in which language relates to theory of mind (ToM) during middle childhood. Two hundred and thirty-three children (ages 6-12) were tested via a concurrent design on vocabulary, phonological and morphological awareness, and six ToM domains (belief, knowledge, perception, desire, intention, and emotion). Results revealed that vocabulary had significant positive associations with three ToM domains (belief, knowledge, and intention), and morphological awareness, but not phonological awareness, emerged as a concurrent mediator of this relationship. Overall, these findings suggest that understanding words, particularly their structure and meaning, is important in linking language and ToM development during middle childhood.
Miller-Dieker Syndrome (MDS) is a rare neurodevelopmental disorder caused by a deletion on chromosome 17p13.3, notably affecting the PAFAH1B1 (LIS1) gene. This genetic alteration disrupts neuronal migration, resulting in type I lissencephaly and profound neurocognitive impairments. To critically analyze the genetic basis and neurocognitive profile associated with MDS and examine its clinical relevance through a systematic literature review. A descriptive and retrospective literature review was conducted following PRISMA guidelines. Searches were conducted across major scientific databases using terms using terms such as "Miller-DiekerSyndrome," "neuronal migration disorder," "genetic deletion 17p13.3," and "neurocognition." Studies reviewed consistently associate the 17p13.3 deletion with pathogenic variants in PAFAH1B1, YWHAE, RELN, and ARX. These genes are critical for neuronal migration and brain cortical structure. Although the clinical profiles were not uniformly described, the literature supports links between these genetic pathogenic variants and developmental delay, epilepsy, and intellectual disability. Neuroimaging is a fundamental tool for the diagnosis and structural characterization of MDS. However, this review primarily focused on the genetic and neurocognitive dimensions. While some studies mentioned imaging findings, detailed neuroanatomical data were not systematically or consistently reported across the literature, which limited their inclusion in the comparative analysis presented in this manuscript. MDS exemplifies a severe genetic disorder of neuronal migration. Genetic and neurocognitive evaluation is key for early diagnosis and management. Future research should focus on integrative neurodevelopmental models and potential molecular therapies.
Executive functions (EF) are core neurocognitive processes that support early development. However, most standardized EF measures developed in high-income countries may lack cross-cultural validity in low-income contexts. This study validated the NIH Toolbox EF battery among non-clinical Nigerian preschoolers (N = 317, ages 4-6). Inter-task associations were partially supported, and age-related sensitivity was only significant for cognitive flexibility. Latent profile analysis revealed low and high EF groups, with higher parental education linked to stronger EF scores. Our findings suggest that the NIH Toolbox can differentiate EF profiles and highlight the importance of validating cognitive tools in diverse cultural contexts.
Network analysis describes communication within complex systems like the brain. We used network analysis to study the emerging organization of the brain during infancy and how it relates to age and temperament dimensions. Baseline EEG was recorded from 6- to 12-month-old infants (N = 77). We examined network measures of clustering coefficient (segregation) and characteristic path length (integration) in the 6-9-Hz alpha band. Clustering coefficient increased (more segregation) and characteristic path length decreased (more integration) with age. Clustering coefficient decreased (less segregation) and characteristic path length increased (less integration) in relation to higher levels of regulatory capacity/orienting.
This study compared executive functions, visual perception, and cognitive skills in high-average and average-ability children with dyslexia. Seventy-six children aged 8-12 were assessed using the Executive Functions and Occupational Routines Scale (EFORTS), the Test of Visual-Perceptual Skills - Third Edition (TVPS-3), and the Dynamic Occupational Therapy Cognitive Assessment for Children (DOTCA-CH). High-average ability children scored higher on DOTCA-CH domains such as visual-motor construction and thinking operations, while average-ability peers performed better on all TVPS-3 subtests. EFORTS differed only in play-leisure routines. Findings suggest that dyslexia presents with diverse cognitive patterns, emphasizing the need for approaches that address individual differences.
Cerebral palsy is primarily defined by motor impairments, yet cognitive difficulties frequently co-occur and influence development and daily functioning. This systematic review examined associations between motor function and cognition in individuals with CP, interpreting findings within the Cattell-Horn-Carroll framework. Twenty-eight studies were included. Both gross and fine motor impairments were consistently associated with lower overall intellectual functioning. However, evidence regarding specific CHC cognitive domains was limited and inconsistent. Substantial heterogeneity in study design, assessment instruments, and small samples constrained comparability. While the link between general intelligence and motor severity appears robust, domain-specific cognitive-motor relationships remain insufficiently established.
The presentation of depression symptoms in concussed youth athletes is not well understood. We examined the PHQ-A factor structure in concussed youth athletes. Five hundred and ninety-five youth athletes completed the PHQ-A and PCSS within 30 days of sport-related concussion. Factor analyses of the PHQ-A alone revealed a two-factor structure: cognitive-energy/sleep and emotional symptoms. When combined, only two PCSS items ("sadness," "more emotional") overlapped with PHQ-A symptoms. Over half (51.1%) of youth athletes endorsed symptoms consistent with mild-to-severe depression; athletes with preexisting anxiety or depression had a 1.6-3.2x greater likelihood of meeting depression criteria. The PHQ-A provides unique clinical information beyond standard post-concussion assessments.
We investigated the developmental trajectory of decision-making in autistic individuals from childhood into emerging adulthood and examined the impact of internalizing symptoms on decision-making strategies. Thirty-eight autistic and 50 non-autistic individuals were assessed at baseline (Mage = 11.8 years, 72.7% boys), at 2-year, and 10-year follow-up. Autistic and non-autistic individuals showed similar improvements in decision-making performance over time. However, the autistic participants exhibited a more risk-averse decision-making style compared to the non-autistic participants. The pattern of risk-averse decision-making in the autistic individuals reflected a more deliberate thinking style in advantageous situations and the influence of internalizing symptoms in disadvantageous situations.
To characterize the developmental origins of youth attention-deficit/hyperactivity disorder (ADHD), we examined independent and interactive associations of childhood-negative emotionality (NE) and executive functioning (EF; set shifting, inhibitory control, working memory) as predictors of adolescent externalizing and internalizing problems. Participants were children with and without ADHD (N = 230; ages 5-11 at baseline) followed for 6-7 years. Parent-reported NE predicted later psychopathology, and performance-based set shifting moderated this association. Unexpectedly, set shifting predicted internalizing symptoms. Findings highlight NE and EF as key transdiagnostic risk factors informing developmental models of ADHD and underscoring priorities for prevention and intervention.
Although our understanding of the neural bases of speech and language has advanced considerably in recent decades, a disconnect persists between this knowledge and early interventions currently used in clinical practice. Insights into how neurobiological data may be incorporated into identification, differential diagnosis, and targeted treatment offer valuable lessons for early developmental intervention. Neurobiologically-informed methods already incorporated into the treatment of speech and language disorders show promise for improving treatment strategies, but these approaches are not yet widely adopted. Bridging the gap between neuroscience and clinical care could initiate a paradigm shift from symptom-based management to proactive, neurobiologically-informed care.
