-
BMJ Neurology Open 2023IRF2BPL (interferon regulatory factor 2-binding protein-like) gene is an intronless gene present ubiquitously in the human body, including the brain. Pathogenic variants...
BACKGROUND
IRF2BPL (interferon regulatory factor 2-binding protein-like) gene is an intronless gene present ubiquitously in the human body, including the brain. Pathogenic variants lead to neurodegeneration and present with phenotypic features of a neurological disorder, including dyslexia, dyscalculia, epilepsy, dystonia, neurodevelopmental regression, loss of motor skills and cerebellar ataxia.
CASE
We present a case of a 9-year-old boy who was brought to the emergency department with generalised tonic-clonic seizures and mild hypotonia. A history included neurological regression. After insignificant lab and imaging results, the patient underwent genetic testing, revealing a novel pathogenic mutation in the IRF2BPL gene (heterozygous variant), which had never been reported in the literature before. An autosomal dominant loss of function mutation was demonstrated, denoting in DNA as NM_0 24 496 c.911 C>T, which results in premature protein termination (p.Glu494).
CONCLUSION
Our case highlights the importance of early recognition of the neurological symptoms associated with various IRF2BPL gene mutations so that a timely multidisciplinary management approach can be provided.
PubMed: 37649702
DOI: 10.1136/bmjno-2023-000459 -
Journal of Learning Disabilities 2017Learning fractions is difficult for children in general and especially difficult for children with mathematics difficulties (MD). Recent research on developmental and... (Review)
Review
Learning fractions is difficult for children in general and especially difficult for children with mathematics difficulties (MD). Recent research on developmental and individual differences in fraction knowledge of children with MD and typically achieving (TA) children has demonstrated that U.S. children with MD start middle school behind their TA peers in fraction understanding and fall further behind during middle school. In contrast, Chinese children, who like the MD children in the United States score in the bottom one third of the distribution in their country, possess reasonably good fraction understanding. We interpret these findings within the framework of the integrated theory of numerical development. By emphasizing the importance of fraction magnitude knowledge for numerical understanding in general, the theory proved useful for understanding differences in fraction knowledge between MD and TA children and for understanding how knowledge can be improved. Several interventions demonstrated the possibility of improving fraction magnitude knowledge and producing benefits that generalize to fraction arithmetic learning among children with MD. The reasonably good fraction understanding of Chinese children with MD and several successful interventions with U.S. students provide hope for the improvement of fraction knowledge among American children with MD.
Topics: Child; Child Development; China; Dyscalculia; Female; Humans; Learning; Male; Mathematical Concepts; Mathematics; United States
PubMed: 27491474
DOI: 10.1177/0022219416662032 -
Journal of Stroke and Cerebrovascular... Oct 2020Gerstmann syndrome is defined as a tetrad including agraphia, acalculia, finger agnosia, and right-left disorientation. In the case studies presented in the literature,... (Review)
Review
Gerstmann syndrome is defined as a tetrad including agraphia, acalculia, finger agnosia, and right-left disorientation. In the case studies presented in the literature, it has been reported that Gerstmann syndrome usually appears as an incomplete tetrad of symptoms or accompanied by cognitive deficits including aphasia, alexia, apraxia and some perceptual disorders. Here, we present of the patient with left angular and supramarginal gyrus infarction affecting the parietal lobe. In addition to the symptoms mentioned above, the patient had alexia and anomic aphasia as well. We discussed the clinic appearance and reviewed the current literature.
Topics: Agraphia; Anomia; Cerebral Infarction; Dyscalculia; Dyslexia; Gerstmann Syndrome; Humans; Male; Middle Aged; Parietal Lobe
PubMed: 32912538
DOI: 10.1016/j.jstrokecerebrovasdis.2020.105161 -
Frontiers in Human Neuroscience 2021
PubMed: 33994984
DOI: 10.3389/fnhum.2021.670460 -
Research in Developmental Disabilities Feb 2023Digital game-based training programs have recently been used to train the cognitive abilities of children with neurodevelopmental disorders (NDDs). However, the effects... (Meta-Analysis)
Meta-Analysis Review
Digital game-based training programs have recently been used to train the cognitive abilities of children with neurodevelopmental disorders (NDDs). However, the effects of training remain controversial. The present meta-analysis explored the effectiveness of digital game-based training in children with NDDs and examined the possible moderators of its effects. Twenty-nine studies with cognitive outcomes in 1535 children were included in the present meta-analysis. The results showed that digital game-based training could significantly enhance the core cognitive abilities of children with each type of NDDs and that training could be used remotely. Meanwhile, task content and game features of digital game-based interventions separately make unique and significant contributions to the training effects, suggesting that the combination of training content and game features could efficiently improve children's cognition. Although the present study revealed that the training benefits could be maintained over a period of time, more studies are needed to explore the retention effects of digital game-based training. The present study provides a comprehensive understanding of the training effects of digital game-based interventions and new insights for future cognitive training design and application.
Topics: Humans; Child; Cognition; Neurodevelopmental Disorders; Aptitude
PubMed: 36603312
DOI: 10.1016/j.ridd.2022.104418 -
Frontiers in Pediatrics 2021Pediatric acute-onset neuropsychiatric syndrome (PANS) is a condition defined by sudden onset of obsessive-compulsive symptoms and/or severe eating restrictions, along...
Pediatric acute-onset neuropsychiatric syndrome (PANS) is a condition defined by sudden onset of obsessive-compulsive symptoms and/or severe eating restrictions, along with at least two other cognitive, behavioral, or neurological symptoms. Its pathogenesis is unknown but it seems triggered by infections, metabolic disturbances, and other inflammatory reactions. PANS represents a neurodevelopmental problem and infant feeding can play a role. Breast milk is the ideal food for infants and influences children's brain, cognitive, and socio-emotional development. We enrolled 52 children diagnosed with PANS. We interviewed their parents in order to investigate perinatal history, infant feeding, neurologic development, and confounding factors like socio-economic status and region of origin. We subgrouped PANS patients into three subsets: those who only received human milk (HMO), those who only received infant formula, and those who received mixed feeding. The cohort is composed of 78.9% males, with a median age of 11 years (range 7-17). We found some neurodevelopmental problems (13.5%): walking disorders, ASD, ADHD, oppositional attitude, and delayed psychomotor development. We found scholar performance deficits (25%), including language problems like dysgraphia, dyslexia, and dyscalculia. The achievement of some milestones in the development of the infant is affected in 73.1% of cases. Breastfeeding is not homogeneously practiced in Italy because of social, economic, and cultural phenomena. The richest and the poorest families (100%) in the sample choose breastfeeding, probably with a different approach and for different reasons (awareness or need). In the group of PANS patients fed with HMO, compared to the rest of the patients, we registered fewer cases of growth problems (0 vs. 12.9%; = 0.14), school performance problems or the need for school support (19.1% vs. 29%; = 0.42), and a delay in the age of babbling/speaking (range 4-20 vs. 7-36 months; = 0.066). This is the first study that investigates the role of breastfeeding in the development of PANS. Promoting breastfeeding is important in the general population and also in PANS patients because it has an important social and global health impact, also during adult life. Further studies with a bigger population are needed to investigate the mechanisms underlying PANS and the role that breastfeeding may play in their short- and long-term neurodevelopment.
PubMed: 34307255
DOI: 10.3389/fped.2021.682108 -
Journal of Learning Disabilities 2015A synthesis of the extant research on peer-mediated reading and math interventions for students in regular or alternative education settings with academic difficulties... (Review)
Review
A synthesis of the extant research on peer-mediated reading and math interventions for students in regular or alternative education settings with academic difficulties and disabilities in Grades 6 to 12 (ages 11-18) is presented. Interventions conducted between 2001 and 2012 targeting reading and math were included if they measured effects on at least one academic outcome measure. A total of 13 intervention studies were synthesized in which 10 studies employed an experimental or quasi-experimental design and three studies used a single-case design. Findings from the 13 studies revealed mostly moderate to high effects favoring peer mediation, particularly when implementing a peer-mediated feedback component. In addition, findings suggest such interventions have social validity among adolescents and teachers. More rigorous research on secondary peer-mediated math interventions, peer-mediated interventions in alternative settings, and effective ways to pair dyads to incorporate a structured feedback component is warranted. Implications for peer-mediated instruction for academically struggling adolescents are discussed.
Topics: Adolescent; Child; Dyscalculia; Dyslexia; Humans; Negotiating; Peer Group
PubMed: 24122650
DOI: 10.1177/0022219413504997 -
Research in Developmental Disabilities Dec 2021Children with Cerebral Palsy (CP) often perform poorly in mathematics. It is not yet clear to what extent mathematics difficulties in this clinical condition are similar...
Children with Cerebral Palsy (CP) often perform poorly in mathematics. It is not yet clear to what extent mathematics difficulties in this clinical condition are similar to those observed in developmental dyscalculia. To better elucidate this issue, we conducted an exploratory cross-sectional study with a sample of children and adolescents with congenital brain injuries and educational history of problems in Mathematics. Fifty students aged 7-15 years, of both genders (28 males) participated in the study, 31 with typical development (TD) and 19 of whom diagnosed with spastic CP. Nine had hemiplegia and ten diplegia. Assessment procedures included a neuropsychological battery covering numerical cognition (ZAREKI-R) and working memory (AWMA) skills, and a computerized task for comparing non-symbolic magnitudes as a measure of number sense. Despite average intelligence coefficient, participants with CP underperformed the TD in five of the 12 ZAREKI-R subtests, as well as in the number sense and working memory tasks. scores were lower among hemiplegic children compared to diplegic, numerical cognition was impaired in all CP group, unveiling a dyscalculia secondary to neurodevelopmental impairments. Therefore, we can consider that mathematical learning difficulties in CP as being heterogeneous and associated with the immaturity of neuropsychological functions, with consequences for the development of numerical cognition.
Topics: Adolescent; Cerebral Palsy; Child; Cognition; Cross-Sectional Studies; Dyscalculia; Female; Humans; Male; Mathematics
PubMed: 34562825
DOI: 10.1016/j.ridd.2021.104086 -
Frontiers in Neuroscience 2021Impaired phonological processing is a leading symptom of multifactorial language and learning disorders suggesting a common biological basis. Here we evaluated studies...
Impaired phonological processing is a leading symptom of multifactorial language and learning disorders suggesting a common biological basis. Here we evaluated studies of dyslexia, dyscalculia, specific language impairment (SLI), and the logopenic variant of primary progressive aphasia (lvPPA) seeking for shared risk genes in Broca's and Wernicke's regions, being key for phonological processing within the complex language network. The identified "phonology-related genes" from literature were functionally characterized using Atlas-based expression mapping (JuGEx) and gene set enrichment. Out of 643 publications from the last decade until now, we extracted 21 candidate genes of which 13 overlapped with dyslexia and SLI, six with dyslexia and dyscalculia, and two with dyslexia, dyscalculia, and SLI. No overlap was observed between the childhood disorders and the late-onset lvPPA often showing symptoms of learning disorders earlier in life. Multiple genes were enriched in Gene Ontology terms of the topics learning () and neuronal development (, , , , ). Twelve genes showed above-average expression across both regions indicating moderate-to-high gene activity in the investigated cortical part of the language network. Of these, three genes were differentially expressed suggesting potential regional specializations: was upregulated in Broca's region, while and were upregulated in Wernicke's region. encodes a magnesium-dependent calcium transporter which fits with reports about disturbed calcium and magnesium levels for dyslexia and other communication disorders. (formerly known as ) is involved in neuronal migration supporting the hypothesis of disturbed migration in dyslexia. is a transcription factor that regulates a number of genes involved in development of speech and language. Overall, our interdisciplinary and multi-tiered approach provided evidence that genetic and transcriptional variation of , , and may play a role in physiological and pathological aspects of phonological processing.
PubMed: 34539327
DOI: 10.3389/fnins.2021.680762 -
Zhurnal Nevrologii I Psikhiatrii Imeni... 2023The review is devoted to one of the current problems of pediatric neurology - reading and writing disorders in children as part of a partial developmental disorder. With...
The review is devoted to one of the current problems of pediatric neurology - reading and writing disorders in children as part of a partial developmental disorder. With the development of neuroscience, the paradigm of «brain damage» in the understanding of a number of pathological conditions was replaced by the concept of «evolutionary neurology». The dominance of the ontogenetic approach caused the appearance of a new section in ICD-11 - «Neurodevelopmental disorders». Twenty-one genes associated with the acquisition of reading and writing skills have been identified. Modern studies demonstrate the connection of neuropsychological prerequisites for reading and writing, and clinical phenotypes of dyslexia with changes in specific loci. It is assumed that there are different molecular genetic bases for dyslexia and dysgraphia depending on ethnicity, orthographic features of language, including logographic features. Pleiotropy of genes is a cause of comorbidity of reading and writing disorders with attention deficit and hyperactivity disorder, specific speech articulation disorders, and dyscalculia. A key function of many of the identified genes is their involvement in the processes of neurogenesis. Their dysfunctions cause atypical neuronal migration, ectopic formation, inadequate axonal growth, and dendrite branching at the early stage of brain development. Morphological changes can distort the correct distribution and/or integration of linguistic stimuli in critical brain areas, leading to abnormalities in phonology, semantics, spelling, and general reading comprehension. The knowledge gained can form the basis for the development of risk models for dysgraphia and dyslexia formation and be used as a diagnostic and/or screening tool, which is important for evidence-based correction, optimization of academic performance, and mitigation of psychosocial consequences.
Topics: Humans; Agraphia; Dyslexia; Genetic Background; Brain; Language
PubMed: 37315241
DOI: 10.17116/jnevro202312305148