Int. J. Dev. Neurosci. [JOURNAL]
Sun
200 papers
The neuropsychology of early childhood and infancy.
Megari K, Miliadi V
Int J Dev Neurosci · 2024 Dec · PMID 39323063 · Publisher ↗
OBJECTIVES: Piaget's theory emphasizes the biological structures children utilize to make sense of their environment and based on those experiences become able to adapt. Many factors can intervene in the gradual and comp...
OBJECTIVES: Piaget's theory emphasizes the biological structures children utilize to make sense of their environment and based on those experiences become able to adapt. Many factors can intervene in the gradual and complex process of development, causing an array of issues both acute and chronic. METHOD: Several studies have found that disability in the early months is a strong predictor of cognitive impairment in preschool. The presence of early functional anomalies may represent developmental delay and/or neurodevelopmental disorders. RESULTS: Understanding the risk factors and detecting such signs early on is important to prevent or minimize later cognitive, behavioral, and psychosocial problems. The study aims to emphasize how critical the early years are to a child's future cognitive, physical, emotional, and social development as well as their overall well-being. DISCUSSION: In addition, the fact that crucial developmental stages can be hampered or obstructed by a variety of factors is highlighted.
Assessment of BDNF and sialic acid levels in children with ADHD: Relation of chronotypes.
Demirci E, Gul MK, Sener EF … +2 more , Onal MG, Dal F
Int J Dev Neurosci · 2024 Dec · PMID 39308139 · Publisher ↗
OBJECTIVE: Evaluation of the biomarkers and their relations with sleep in attention deficit hyperactivity disorder (ADHD) is important for understanding the impairments in cognitive functioning. In this study, we aimed t...
OBJECTIVE: Evaluation of the biomarkers and their relations with sleep in attention deficit hyperactivity disorder (ADHD) is important for understanding the impairments in cognitive functioning. In this study, we aimed to investigate the brain-derived neurotrophic factor (BDNF) and sialic acid (Sia) levels, and their possible relations with chronotypes in ADHD. METHODS: The study included 100 drug-naive children with ADHD and 74 healthy children as controls. Conners' Parent Rating Scale-Revised (CPRS-R) scores were used for the severity assessment. Morningness Eveningness Questionnaire (MEQ) was used to determine the chronotypes of participants. ELISA kits were used for the assessment of BDNF and Sia plasma levels. RESULTS: Levels of BDNF and Sia were found to be statistically significantly higher in the ADHD group compared to healthy children (p < 0.001, p < 0.001, respectively). BDNF and Sia levels were found to be higher in the ADHD group with eveningness chronotype (p = 0.045, p = 0.038). The binary logistic regression model was statistically significant (p = 0.033), higher BDNF and Sia levels were assessed as predictive factors for the diagnosis of ADHD. Also, eveningness chronotype was found as a predictive factor of BDNF and Sia levels in ADHD. CONCLUSION: The results indicate that BDNF and Sia levels, which are related to cognitive functions and sleep, increase with the age of ADHD. Eveningness chronotype, connected with the severity of ADHD, is related to BDNF and Sia levels. There is a need for further studies to confirm these results.
Long-lasting behavioral and neurochemical effects of early-life environmental enrichment in rats submitted to neonatal morphine administration.
de Freitas Nascimento MG, de Castro JM, Medeiros LF … +7 more , Fiuza KJ, de Oliveira TC, de Sousa Morais IT, Bosco TD, Caumo W, Stein DJ, Torres ILS
Int J Dev Neurosci · 2024 Dec · PMID 39298042 · Publisher ↗
The present study examined the medium- and long-term effects of early environmental enrichment (EE) on neuromotor, nociceptive, cognitive, behavioral, and neurochemical parameters in newborn rats repeatedly exposed to mo...
The present study examined the medium- and long-term effects of early environmental enrichment (EE) on neuromotor, nociceptive, cognitive, behavioral, and neurochemical parameters in newborn rats repeatedly exposed to morphine. The study employed 90 Wistar rats: 10 adult nulliparous females and 80 male pups. Litter was split into standard and EE housing. Following, half of each litter received saline (S) or morphine (M) injections, resulting in four groups: SC + S, EE + S, SC + M, and EE + M. EE was applied from PND1 to PND21, while morphine or saline was given daily (5 μg/s.c.) from PND8 to PND14. Neuromotor development was similar between groups. In the OF test, morphine reduced outer and total crossings, whereas EE increased inner crossings and rearings. Adult rats showed a decrease in outer and total crossings and grooming and an increase in rearing. EE increased the number of protected and unprotected head dipping. Adult rats showed an increase in protected head dipping. Adult rats showed a lower recognition index, and, when exposed to EE, a lower anxiety index and analgesia. EE increased brainstem and hippocampal BDNF levels. Adult rats had increased hypothalamus, spinal cord, and brainstem BDNF levels, an increase in the spinal cord, and decreased hypothalamus TNF-α levels. This study demonstrated that early-life EE raises BDNF levels in the brainstem and hippocampus of rats and modifies their behaviors (such as nociception, exploration, and anxiety) in a state-dependent manner (morphine and age).
Decreased levels of L-selectin and platelet-endothelial cell adhesion molecule-1 in children with autism spectrum disorder.
Arslan SC, Arslan FN, Altun H … +4 more , Taş D, Islah EM, Seyithanoğlu M, Doğaner A
Int J Dev Neurosci · 2024 Dec · PMID 39297412 · Publisher ↗
OBJECTIVE: This study aimed to ascertain the serum levels of selectins (E, L, P) and platelet-endothelial adhesion molecule-1 (PECAM-1) in preschool children with autism spectrum disorder (ASD) and to establish a compari...
OBJECTIVE: This study aimed to ascertain the serum levels of selectins (E, L, P) and platelet-endothelial adhesion molecule-1 (PECAM-1) in preschool children with autism spectrum disorder (ASD) and to establish a comparison with the levels observed in healthy controls. METHODS: The study included 34 children aged 2-7 years diagnosed with ASD (ASD group) and 34 randomly selected healthy children matched for age and sex to the ASD group. The children were free of any genetic or physical disease, clinically active infection, or medication use. The sociodemographic data form was completed by all parents. The Childhood Autism Rating Scale (CARS) and the Autism Behavior Checklist (ABC) were administered to the patient group, and the Aberrant Behavior Checklist (AbBC) was completed by the families of all children. Serum selectin (E, L, P) and PECAM-1 levels were measured using enzyme-linked immunosorbent assay (ELISA) kits. RESULTS: The results showed that the levels of both L-selectin (p = 0.007) and PECAM-1 (p = 0.019) were significantly lower in the ASD group than in the control group. No significant difference was observed between the groups concerning E-selectin and P-selectin levels (p > 0.05). It was observed that P-selectin variables were statistically significant in predicting the presence of ASD (p = 0.019). A remarkable inverse correlation was found between the AbBC irritability subscale score and L-selectin (r = -0.296, p = 0.014) and PECAM-1 (r = -0.276, p = 0. 023); the AbBC Lethargy-Social Withdrawal subscale score and E-Selectin (r = -0.239, p = 0.049), L-Selectin (r = -0.297, p = 0.014) and PECAM-1 (r = -0.264, p = 0.029); L-Selectin levels and the AbBC stereotypic behavior subscale (r = -0.248, p = 0.042). No statistically significant relationship was observed between selectins (E, L, P) and PECAM-1 levels and CARS scale, ABC subscale or total scores and age variables (p > 0.05). CONCLUSIONS: These study results suggest that L-selectin, P-selectin and PECAM-1 may play a role in the pathophysiology of ASD.
Novel variant related to SATB2-associated syndrome.
Benyahya N, Amllal N, Elalaoui SC … +3 more , El Alloussi M, Sefiani A, Lyahyai J
Int J Dev Neurosci · 2024 Dec · PMID 39300047 · Publisher ↗
BACKGROUND: SATB2-associated syndrome (SAS) also known as Glass syndrome is characterized by/intellectual disability and/or developmental delay coupled with absent or limited speech development. Other abnormalities can b...
BACKGROUND: SATB2-associated syndrome (SAS) also known as Glass syndrome is characterized by/intellectual disability and/or developmental delay coupled with absent or limited speech development. Other abnormalities can be noticed including craniofacial anomalies such as palatal and dental anomalies, behavioural problems and dysmorphic features. It is associated with pathogenic monoallelic variants of the SATB2 gene known to play a key role in brain, dental and jaw development. As phenotype could be unspecific and progressive, clinical diagnostic is difficult. Therefore, genetic testing is mandatory to confirm the disease. Herein, we report clinical and molecular data of a 13-year-old girl with psychomotor developmental delay and behavioural problems. METHODS AND RESULTS: Next-generation sequencing detected the novel monoallelic frameshift variant SATB2(NM_001172509.2): c.1135del(p.Gln379Lysfs*34). Currently, this variant is classified as likely pathogenic according to the American College of Medical Genetics. Sanger sequencing was used to validate the presence of the detected variant in the patient and confirm de novo character of this latter. CONCLUSION: Through this work, we emphasize the value of next-generation sequencing for a precise molecular diagnosis, an adapted clinical management of patients and an adequate genetic counselling of their families.
Prediction of individual performance and verbal intelligence scores from resting-state fMRI in children and adolescents.
He N, Kou C
Int J Dev Neurosci · 2024 Nov · PMID 39294857 · Publisher ↗
The neuroimaging basis of intelligence remains elusive; however, there is a growing body of research employing connectome-based predictive modeling to estimate individual intelligence scores, aiming to identify the optim...
The neuroimaging basis of intelligence remains elusive; however, there is a growing body of research employing connectome-based predictive modeling to estimate individual intelligence scores, aiming to identify the optimal set of neuroimaging features for accurately predicting an individual's cognitive abilities. Compared to adults, the disparities in cognitive performance among children and adolescents are more likely to captivate individuals' interest and attention. Limited research has been dedicated to exploring neuroimaging markers of intelligence specifically in the pediatric population. In this study, we utilized resting-state functional magnetic resonance imaging (fMRI) and intelligence quotient (IQ) scores of 170 healthy children and adolescents obtained from a public database to identify brain functional connectivity markers associated with individual intellectual behavior. Initially, we extracted and summarized relevant resting-state features from whole-brain or functional network connectivity that were most pertinent to IQ scores. Subsequently, these features were employed to establish prediction models for both performance and verbal IQ scores. Within a 10-fold cross-validation framework, our findings revealed that prediction models based on whole-brain functional connectivity effectively predicted performance IQ scores( ) but not verbal IQ scores( ). Results of prediction models based on brain functional network connectivity further demonstrated the exceptional predictive ability of the default mode network (DMN) and fronto-parietal task control network (FTPN) for performance IQ scores ( ). The above findings have also been validated using an independent dataset. Our findings suggest that the performance IQ of children and adolescents primarily relies on the connectivity of brain regions associated with DMN and FTPN. Moreover, variations in intellectual performance during childhood and adolescences are closely linked to alterations in brain functional network connectivity.
A pilot study: Examining cytoskeleton gene expression profiles in Pakistani children with autism spectrum disorder.
Malik S, Ali SA, Mehdi AM … +3 more , Raza A, Bashir S, Baig DN
Int J Dev Neurosci · 2024 Nov · PMID 39285780 · Publisher ↗
BACKGROUND: Finding effective pharmacological interventions to address the complex array of neurodevelopmental disorders is currently an urgent imperative within the scientific community as these conditions present signi...
BACKGROUND: Finding effective pharmacological interventions to address the complex array of neurodevelopmental disorders is currently an urgent imperative within the scientific community as these conditions present significant challenges for patients and their families, often impacting cognitive, emotional, and social development. In this study, we aimed to explore non-invasive method to diagnose autism spectrum disorders (ASD) within Pakistan children population and to identify clinical drugs for its treatment. AIMS: The current report outlines a comprehensive bidirectional investigation showcasing the successful utilization of saliva samples to quantify the expression patterns of profilins (PFN1, 2, and 3); and ERM (ezrin, radixin, and moesin) proteins; and additionally moesin pseudogene 1 and moesin pseudogene 1 antisense (MSNP1AS). Subsequently, these expression profiles were employed to forecast interactions between drugs and genes in children diagnosed with ASD. METHODS: This study sought to delve into the intricate gene expression profiles using qualitative polymerase chain reaction of profilin isoforms (PFN1, 2, and 3) and ERM genes extracted from saliva samples obtained from children diagnosed with ASD. Through this analysis, we aimed to elucidate potential molecular mechanisms underlying ASD pathogenesis, shedding light on novel biomarkers and therapeutic targets for this complex neurological condition. (n = 22). Subsequently, we implemented a diagnostic model utilizing sparse partial least squares discriminant analysis (sPLS-DA) to predict drugs against our genes of interest. Furthermore, connectivity maps were developed to illustrate the predicted associations of 24 drugs with the genes expression. RESULTS: Our study results showed varied expression profile of cytoskeleton linked genes. Similarly, sPLS-DA model precisely predicted drug to genes response. Sixteen of the examined drugs had significant positive correlations with the expression of the targeted genes whereas eight of the predicted drugs had shown negative correlations. CONCLUSION: Here we report the role of cytoskeleton linked genes (PFN and ERM) in co-relation to ASD. Furthermore, variable yet significant quantitative expression of these genes successfully predicted drug-gene interactions as shown with the help of connectivity maps that can be used to support the clinical use of these drugs to treat individuals with ASD in future studies.
Evaluation of developmental milestones and of brain measurements in rats exposed to the pesticide pyriproxyfen in prenatal period.
Pereira KE, de Aguiar GB, Villanova B … +6 more , Rabello NJ, Schelbauer R, Carniel ES, Moresco RM, de Souza MA, Centenaro LA
Int J Dev Neurosci · 2024 Nov · PMID 39245789 · Publisher ↗
Pyriproxyfen is a pesticide used in Brazil to control the Aedes aegypti mosquito, vector of arboviruses like Zika and dengue. However, this pesticide is structurally similar to retinoic acid, a metabolite of vitamin A th...
Pyriproxyfen is a pesticide used in Brazil to control the Aedes aegypti mosquito, vector of arboviruses like Zika and dengue. However, this pesticide is structurally similar to retinoic acid, a metabolite of vitamin A that regulates neuronal differentiation and hindbrain development during the embryonic period. Due to the similarity between pyriproxyfen and retinoic acid, studies indicate that this pesticide may have cross-reactivity with retinoid receptors. Thus, pregnant exposure to pyriproxyfen could interfere in the nervous system development of the fetal. In this context, the present study evaluated whether prenatal exposure to pyriproxyfen affects neonatal development and brain structure in rats. Wistar rat pups were divided in three experimental groups: (1) negative control (CT-)-offspring of rats that drink potable water during pregnancy; (2) pyriproxyfen (PIR)-offspring of rats exposed to Sumilarv® prenatally, a pesticide that has pyriproxyfen as active ingredient; and (3) positive control (CT+)-offspring of rats exposed to an excess of vitamin A prenatally. Only vitamin A treated-pregnant showed lower weight gain, but gestation length was similar among pregnant that received potable water, water containing vitamin A and water containing Sumilarv. In relation to the offspring, PIR group exhibits a delayed front-limb suspension response but performed early the negative geotaxis reflex. On the other hand, CT+ group exhibited lower body weight in the 1st postnatal day, delayed audio startle response, but performed early the eyelids opening and hindlimb placing response. A reduction in the maximum brain width was observed both in PIR and CT+ groups, but a reduction in the number of neurons in the M1 cortex was showed only in CT+ group. The number of glial cells in this brain area was similar between the three experimental groups studied. Although prenatal exposure to pyriproxyfen did not alter neonatal milestones in the same way as vitamin A in excess, both substances caused a reduction in the maximum width of the brain, suggesting that this pesticide can produce neurotoxic effects during the embryonic period.
Melatonin attenuates affective disorders and cognitive deficits induced by perinatal exposure to a glyphosate-based herbicide via antioxidant pathway in adult male and female rats.
El Hamzaoui A, Lamtai M, El Brouzi MY … +7 more , Azirar S, Rezqaoui A, Zghari O, El Aoufi M, Nouar R, El-Hessni A, Mesfioui A
Int J Dev Neurosci · 2024 Nov · PMID 39224983 · Publisher ↗
The massive use of herbicides, particularly glyphosate-based herbicides (GBHs), raises several worries, notably their neurotoxic effects. Several studies have explored the consequences of developmental exposure. Our work...
The massive use of herbicides, particularly glyphosate-based herbicides (GBHs), raises several worries, notably their neurotoxic effects. Several studies have explored the consequences of developmental exposure. Our work aims to determine the impact of maternal exposure to GBH on behavioral disorders and memory deficits, as well as the involvement of oxidative stress in the hippocampus and prefrontal cortex. In addition, our study explores the neuroprotective properties of melatonin in male and female offspring. Pregnant Wistar rats were injected with GBH 75 mg/kg during gestation and lactation. After weaning, the offspring were treated with melatonin (4 mg/kg) from postnatal days 30-58. Our results show that GBH increases anxiety-like behavior levels in offspring, as well as depression-like behavior. GBH also impairs working memory in progeny. While markers of oxidative stress show a disturbance in lipid peroxidation and catalase activity, with a more pronounced effect in females, on the other hand, melatonin considerably attenuated the neurotoxic impact observed in the offspring, with higher efficacy in females. The oxidative stress results confirm the antioxidant power of melatonin to counteract the damaging effects of exposure to environmental contaminants such as glyphosate-based pesticides. It will then be interesting to further our work to fully understand the sex-dependent effect of melatonin.
The impact of dexmedetomidine on ketamine-induced neurotoxicity and cognitive impairment in young mice.
Chai D, Jiang H, Lv X
Int J Dev Neurosci · 2024 Nov · PMID 39192610 · Publisher ↗
BACKGROUND: The potential neuroprotective effects of dexmedetomidine against ketamine-induced neurotoxicity remain inconclusive. This study aims to investigate the influence of dexmedetomidine on ketamine-induced neurona...
BACKGROUND: The potential neuroprotective effects of dexmedetomidine against ketamine-induced neurotoxicity remain inconclusive. This study aims to investigate the influence of dexmedetomidine on ketamine-induced neuronal apoptosis and neurodevelopmental toxicity. METHODS: In vitro experiments employed concentrations of 0.1 uM for dexmedetomidine and 50 uM for ketamine individually as well as their combination. Changes in apoptotic proteins and dendritic development in neurons were assessed after a 6-h exposure to the drugs with evaluations conducted 24 hs' post-treatment. In vivo experiments entailed intraperitoneal administration starting from postnatal Day 7 (P7) continuously for 3 days (P7-P9) using dosages of 100 mg/kg for ketamine and 1 mg/kg for dexmedetomidine alone or combined. Learning, memory and motor coordination abilities were evaluated via rotary rod tests and shuttle box experiments at P30 and P60, respectively. RESULTS: Dexmedetomidine effectively mitigated ketamine-induced apoptosis in hippocampal neurons but did not alleviate associated dendritic developmental abnormalities. Although causing reduced motor coordination in mice, no improvement was observed with regard to this effect or reaction speed when treated with dexmedetomidine alongside ketamine. CONCLUSION: This study demonstrates that while dexmedetomidine can mitigate ketamine-induced neuronal apoptosis, it has limited impact on its associated neurodevelopmental toxicities.
Identification of novel BCL11A variant in a patient with developmental delay and behavioural differences.
Zha J, Chen Y, Cao F … +3 more , Zhong J, Yu X, Wu H
Int J Dev Neurosci · 2024 Nov · PMID 39187446 · Publisher ↗
BACKGROUND: The BCL11A gene is involved in disorders including intellectual disability syndrome (IDS), encodes a zinc finger protein highly expressed in haematopoietic and brain and acts as a transcriptional repressor of...
BACKGROUND: The BCL11A gene is involved in disorders including intellectual disability syndrome (IDS), encodes a zinc finger protein highly expressed in haematopoietic and brain and acts as a transcriptional repressor of foetal haemoglobin (HbF). De novo variants in BCL11A have been associated with IDS, which is characterized by developmental delays, autism spectrum disorder (ASD) and speech and language delays. The reports of BCL11A gene variants are still limited worldwide, and additional cases are needed to expand the variant and phenotype spectrums. METHODS: The patient is a 5-year-old girl who was hospitalized due to developmental delays. After analysing her clinical and pathological characterizations, whole-exome sequencing (WES) was performed for pathogenic genetic variants of developmental delay and behavioural differences. Candidate variant in BCL11A gene was identified and further validated by Sanger sequencing. RESULTS: A heterozygous variant, c.1442delA (p.Glu481Glyfs*25), was identified in exon 4 of the BCL11A gene through WES. This variant results in a truncated expression of the encoded protein. This de novo variant was confirmed by Sanger sequencing. The language delay and behavioural differences were prominent in our patient. CONCLUSION: Our finding demonstrates that BCL11A variant may cause developmental delay and behavioural differences, expanding the genetic spectrum of the BCL11A gene.
Phenotypes of autism spectrum disorder and schizoaffective disorder associated with SETD1B gene but without intellectual disability and seizures.
Ünsel-Bolat G, Bolat H
Int J Dev Neurosci · 2024 Nov · PMID 39169470 · Publisher ↗
The SETD1B gene, located on chromosome 12q24, is one of the chromatin-modifying genes involved in epigenetic regulation of gene transcription. The phenotype of pathogenic variants in the SETD1B gene includes intellectual...
The SETD1B gene, located on chromosome 12q24, is one of the chromatin-modifying genes involved in epigenetic regulation of gene transcription. The phenotype of pathogenic variants in the SETD1B gene includes intellectual disability, seizures, and language delay (IDDSELD, OMIM 619000). In this study, we present a family consisting of consanguineous parents who died of cancer and their offspring. This family includes two cases diagnosed with autism spectrum disorder (ASD); six cases diagnosed with schizophrenia, bipolar disorder, or schizoaffective disorder; there cases diagnosed with cancer; and five cases who died of unknown causes in early childhood. Three affected members of this family agreed to genetic testing. We used whole exome sequencing. We report a novel in-frame deletion variant of the SETD1B gene in a family with cases diagnosed with schizoaffective disorder and ASD without seizures and intellectual disability. It was found that the phenotypic features were inherited for at least three generations in the family we presented, and it was shown that the pathogenic variant of the SETD1B gene was transmitted from the affected parent to his affected children. In addition, the father was diagnosed with both schizoaffective disorder and leukemia. We proposed an association between rare variants of SETD1B and phenotypes of ASD and schizoaffective disorder without seizures and intellectual disability. The SETD1B gene is included in both the ASD genetic database of SFARI (https://gene.sfari.org/) and the cancer database of COSMIC (https://cancer.sanger.ac.uk/cosmic). However, there are very few reports of SETD1B gene variants as clinical entities. To our knowledge, the SETD1B gene variant has not been previously reported in an individual diagnosed with both a neuropsychiatric disorder and cancer.
Functional near-infrared spectroscopy and language development: An integrative review.
Januário GC, Bertachini ALL, Escarce AG … +2 more , de Resende LM, de Miranda DM
Int J Dev Neurosci · 2024 Nov · PMID 39135460 · Publisher ↗
Functional near-infrared spectroscopy (fNIRS) stands poised to revolutionize our understanding of auditory detection, speech perception, and language development in infants. In this study, we conducted a meticulous integ...
Functional near-infrared spectroscopy (fNIRS) stands poised to revolutionize our understanding of auditory detection, speech perception, and language development in infants. In this study, we conducted a meticulous integrative review across Medline, Scopus, and LILACS databases, targeting investigations utilizing fNIRS to explore language-related features and cortical activation during auditory stimuli in typical infants. We included studies that used the NIRS technique to study language and cortical activation in response to auditory stimuli in typical infants between 0 and 3 years old. We used the ROBINS-I tool to assess the quality and the risk of bias in the studies. Our analysis, encompassing 66 manuscripts, is presented in standardized tables for streamlined data extraction. We meticulously correlated findings with children's developmental stages, delineating crucial insights into brain development and its intricate interplay with language outcomes. Although most studies have a high risk for overall bias, especially due to the high loss of data in NIRS studies, the low risk in the other domains is predominant and homogeneous among the studies. Highlighted are the unique advantages of fNIRS for pediatric studies, underscored by its innate suitability for use in children. This review accentuates fNIRS' capacity to elucidate the neural correlates of language processing and the sequential steps of language acquisition. From birth, infants exhibit abilities that lay the foundation for language development. The progression from diffuse to specific neural activation patterns is extremely influenced by exposure to languages, social interaction, and prosodic features and, reflects the maturation of brain networks involved in language processing. In conclusion, fNIRS emerges as an indispensable functional imaging modality, providing insights into the temporal dynamics of language acquisition and associated developmental milestones. This synthesis presents the pivotal role of fNIRS in advancing our comprehension of early language development and paves the way for future research endeavors in this domain.
The effect of conjoint behavioral consultation on achieving communication skills in children with autism spectrum disorder.
Aykut P, Kahveci G
Int J Dev Neurosci · 2024 Nov · PMID 39129433 · Publisher ↗
This study, uniquely designed with tact and mand-modeling procedures presented through the Conjoint Behavioral Consultation (CBC) method, aims to evaluate the effects on the communication skills of preschool children wit...
This study, uniquely designed with tact and mand-modeling procedures presented through the Conjoint Behavioral Consultation (CBC) method, aims to evaluate the effects on the communication skills of preschool children with autism spectrum disorder (ASD) and the impact on disruptive behaviors (tantrums) at home. A pilot study with the families of three participants informed the adaptations for the main study, which was implemented with the families of nine participants. The research was conducted using an Embedded Mixed Methods Design, a distinctive approach that allowed for a comprehensive understanding of the outcomes. The primary research design was a single-subject research model with multiple probes across participants' designs, ensuring a thorough and individualized assessment. The study was carried out in both home and clinical settings, involving the participation of special education teachers and families. The findings indicate that the tact and mand-modeling procedures presented through the CBC method significantly improved the children's communication skills and led to substantial reductions in tantrum behaviors. All families indicated that the dependent variables held significant social importance. Significant enhancements were noted in the children's communication skills and social engagements after the intervention. The CBC intervention was determined to be feasible and feasible for families, with no additional expenses accrued. The long-term suitability and usefulness of the product in many environments increased its societal acceptance. This study revealed that the CBC approach had a favorable and reliable effect on academic and behavioral advancement.
Are the promnestic effects of neurokinin 3 receptor mediated by hippocampal neurogenesis in a Aβ-induced rat model of Alzheimer's disease?
Koca RO, Gormus ZIS, Solak H … +3 more , Celik FS, Kurar E, Kutlu S
Int J Dev Neurosci · 2024 Nov · PMID 39010691 · Publisher ↗
Alzheimer's disease (AD) is an age-related neurodegenerative disorder characterised by cognitive dysfunction, memory loss and mood changes. Hippocampal neurogenesis has been suggested to play a role in learning and memor...
Alzheimer's disease (AD) is an age-related neurodegenerative disorder characterised by cognitive dysfunction, memory loss and mood changes. Hippocampal neurogenesis has been suggested to play a role in learning and memory. Neurokinin 3 receptor (NK3R) has been shown to be prevalent in the hippocampus region. The aim of the project was to investigate the role of hippocampal neurogenesis in the promnestic effects of NK3R agonist administration in an amyloid beta-induced AD rat model. Wistar albino rats were divided into control, Alzheimer, NK3R agonist and Alzheimer + NK3R agonist groups. The open field (OF) test and Morris water maze (MWM) test were performed for locomotor activity and memory analysis. Peptide gene expression levels (Nestin, DCX, Neuritin, MASH1, Neun, BDNF) were analysed by quantitative reverse transcription polymerase chain reaction (RT-PCR). In the OF test, the group-time relationship was found to be statistically different in the parameters of distance travelled and percentage of movement (p < 0.05). In MWM, the time to reach the platform and the time spent in the target quadrant were statistically significant between the groups (p < 0.05). Statistically significant differences were observed in gene expression levels (Nestin, DCX, Neuritin, MASH1) in the hippocampal tissue of rats between the groups (p < 0.05). NK3 receptor agonism favourably affected hippocampal neurogenesis in AD model rats. It was concluded that NK3 receptor agonism in the hippocampus, which is the first affected region in the physiopathology of AD, may be effective in both the formation of neural precursor cells and the reduction of neuronal degeneration. The positive effect of NK3R on cognitive functions may be mediated by hippocampal neurogenesis.
Identification of novel variants in BRF1 gene from patient with developmental delay, hearing abnormality, and nervous system anomalies.
Yin H, Yu Y, Shen Y
Int J Dev Neurosci · 2024 Nov · PMID 39005000 · Publisher ↗
Cerebellofaciodental syndrome characterized with dysmorphic features, intellectual disability, and brain anomalies. Now its clinical spectrum expanded more manifestations including bilateral sensorineural hearing impairm...
Cerebellofaciodental syndrome characterized with dysmorphic features, intellectual disability, and brain anomalies. Now its clinical spectrum expanded more manifestations including bilateral sensorineural hearing impairment and inner ear malformation. Here, we report a 14-month-old boy with global developmental delay and hearing disorder. Whole exome sequencing (WES) revealed the compound heterozygous variants [NM_001519.4: c.652 T > G (p.W218G); c.915 + 1G > T] in the BRF1 gene which inherited from his parents, respectively. The MRI results showed hypoplastic cerebellar vermis, enlarged cisterna magna, and prominent fourth ventricle, the rehabilitation therapy failed to improve the symptoms for our patient. Our finding expands the genetic spectrum of BRF1 variants, which indicates patients with the developmental delay caused by BRF1 variants require other treatments instead of rehabilitation.
A rare pediatric patient of anti-IgLON5 encephalitis with epileptic seizures as the first symptom.
Xue J, Song Z, Zhao H … +5 more , Yi Z, Li F, Yang C, Liu K, Zhang Y
Int J Dev Neurosci · 2024 Nov · PMID 39003610 · Publisher ↗
BACKGROUND: Anti-IgLON5 encephalitis was a rare neurological and heterogeneous disorder, which was mainly found in adults. Epileptic seizures related to anti-IgLON5 disease were rarely reported. METHODS: Neural antibodie...
BACKGROUND: Anti-IgLON5 encephalitis was a rare neurological and heterogeneous disorder, which was mainly found in adults. Epileptic seizures related to anti-IgLON5 disease were rarely reported. METHODS: Neural antibodies associated with autoimmune encephalitis in serum and cerebrospinal fluid (CSF) were tested using cell-based assays (CBA) with immunofluorescence double staining. The antibodies in serum were further confirmed by tissue-based assay (TBA) with rat brain and kidney tissue. RESULTS: We reported a pediatric case presented with epileptic seizures, cognitive impairments, and sleep disorders. Autoantibody screening showed anti-IgLON5 antibody IgG (1:100+) and anti-NMDAR antibody IgG (1:10+) in the serum. She was diagnosed as anti-IgLON5 encephalitis. Her conditions improved rapidly by treated with intravenous immunoglobulin and high dose intravenous methylprednisolone. CONCLUSION: We described the second pediatric case with anti-IgLON5 encephalitis, who was also the first presented with epileptic seizures as the initial presentation. Anti-IgLON5 encephalitis might have mild manifestations. For patients with new onset seizures associated with cognitive impairments and sleep disturbances, anti-IgLON5 antibody should be tested as early, even in children.
An adverse rearing environment alters maternal responsiveness to infant ultrasonic vocalizations.
Rekapalli AK, Roman IC, Brenhouse HC … +1 more , Cody CR
Int J Dev Neurosci · 2024 Nov · PMID 39003605 · Publisher ↗
Rodent pups use a variety of ultrasonic vocalizations (USVs) to facilitate maternal care. Importantly, infant USV repertoires are dependent on both the age and early life experiences of the pups. We have shown that an ad...
Rodent pups use a variety of ultrasonic vocalizations (USVs) to facilitate maternal care. Importantly, infant USV repertoires are dependent on both the age and early life experiences of the pups. We have shown that an adverse rearing environment modeled with the maternal separation (MS) paradigm alters caregiving behavior but little is known about how pup USVs differentially elicit maternal attention. In the present study, maternal approach towards a vocalizing pup over a non-vocalizing pup was tested in a Y-maze apparatus at two developmental time points over the course of MS. At postnatal day (P)10, MS dams engaged in longer interaction times with vocalizing pups compared to non-vocalizing pup, and this effect was strongest in male pups. As expected at P20, dams did not show a preference for either the vocalizing or non-vocalizing pups regardless of rearing environment; however, MS dams spent a greater amount of time in the center of the apparatus as compared to control dams, which can be interpreted as a measure of uncertainty or indecision. These effects of MS on dam USV sensitivity are important considering the sex specific effects of MS exposure across all developmental stages. Our novel findings support the hypothesis that sex-specific pup-dam interactions may drive later life outcomes following adversity.
Investigation of the relationship between the sense of coherence and the level of depression in mothers of children with autism.
Durankuş F, Erdoğan F, Durankuş R … +4 more , Gulek A, Bas RK, Albayrak Y, Yilmaz K
Int J Dev Neurosci · 2024 Oct · PMID 38984838 · Publisher ↗
INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental disorder originating from early childhood. Although there are studies investigating the sense of coherence in caregivers of children with ASD, there is...
INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental disorder originating from early childhood. Although there are studies investigating the sense of coherence in caregivers of children with ASD, there is not a previous study in our country. In this study, we aimed to examine the relationship between the sense of coherence and depression levels in mothers of children with ASD. METHOD: Seventy-five mothers of children followed up in rehabilitation centers with the diagnosis of ASD were included in this study. Beck Depression Inventory (BDI) and Sense of Coherence Scale-13 (SOC-13) were administered to mothers. Participants were divided into two groups: a depressive group and a control group according to the BDI cut-off score. SOC-13 total score and sub-scores were compared between these groups. RESULTS: According to the BDI cut-off score, 45 participants (60%) were included in the depressive group. Total SOC-13 score and sub-scores were found to be statistically significantly lower in the depressive group compared with the control group. CONCLUSION: Our study is the first study in our country to examine the relationship between the sense of coherence and depression in mothers of children with ASD. The results showed that there was a significant negative correlation between depression scores and sense of coherence. It is predicted that psychological interventions that will improve the sense of coherence of mothers with children with ASD may play an important role in the treatment of depression, thus leading to an increase in the quality of care provided by parents.
Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience.
Gerik-Celebi HB, Dokurel Çetin İ, Bolat H … +1 more , Unsel-Bolat G
Int J Dev Neurosci · 2024 Nov · PMID 38984718 · Publisher ↗
INTRODUCTION: Epilepsy is a common multifactorial neurological disease usually diagnosed during childhood. In this study, we present the contribution of consecutive genetic testing to the genetic diagnostic yield of chil...
INTRODUCTION: Epilepsy is a common multifactorial neurological disease usually diagnosed during childhood. In this study, we present the contribution of consecutive genetic testing to the genetic diagnostic yield of childhood epilepsy. METHODS: In 100 children (53 female, 47 male) with epilepsy, targeted sequencing (TS) and clinical exome sequencing (CES) were performed. All cases (n = 100) included in the study were epilepsy patients. In addition, we investigated the genetic diagnosis rates according to the associated co-occurring findings (including developmental delay/intellectual disability, brain malformations, macro-/microcephaly, and dysmorphic features). RESULTS: The overall diagnostic rate in this study was 33% (n = 33 patients). We identified 11 novel variants in WDR45, ARX, PCDH19, SCN1A, CACNA1A, LGI1, ASPM, MECP2, NF1, TSC2, and CDK13. Genetic diagnosis rates were as follows: cases with developmental delay/intellectual disability 38.7% (24/62) and without developmental delay/intellectual disability 23.6% (9/38); cases with brain malformations 46.8% (15/32) and without brain malformations 25% (16/64); cases with macro-/microcephaly 50% (6/12) and without macro-/microcephaly 28.4% (25/88); and cases with dysmorphic features 48.2% (14/29) and without dysmorphic features 23.9% (17/71). CONCLUSION: Genotype-phenotype correlation is even more important in diseases such as epilepsy, which include many genes and variants of these genes in etiopathogenesis. We presented the clinical findings of the cases carrying 11 novel variants in detail, including dysmorphic features, accompanying neurodevelopmental disorders, EEG results, and brain MRI results.
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