Cognitive Delay Research Articles

In vitro fertilization and long-term child health and development: nationwide birth cohort study in Japan

AbstractThe aim of this study is to compare long-term health outcomes between IVF-conceived children and non-IVF-conceived children in Japan, in the context of strong recommendation for single embryo transfer. Using data from a nationwide birth cohort linked with perinatal database, this study analyzed 2140 children born in Japan in May 2010. It compared child health and development outcomes up to 9 years of age between IVF-conceived and non-IVF-conceived children (binary exposure). A Poisson regression with robust variance to estimate the risk ratios for the association between IVF and various long-term child health and developmental outcomes. After adjusting for confounding factors, no significant differences were observed between IVF-conceived and naturally conceived children for most outcomes, including hospitalization, obesity, and developmental milestones. IVF-conceived children showed a slightly lower risk of attention problems at 8 years (adjusted Risk Ratio [aRR]: 0.73, 95% CI: 0.53–1.00). In subgroup analyses, IVF-conceived term children and singletons demonstrated reduced risk of cognitive delays at 5.5 years (aRR: 0.31, 95% CI: 0.10–0.96 and aRR: 0.37, 95% CI: 0.14–0.98, respectively).Conclusion: In this Japanese cohort, IVF conception was not associated with adverse long-term health or developmental outcomes. These findings provide reassurance about the safety of IVF, particularly in the context of single embryo transfer policies. Further research is needed to explore specific IVF protocols and subgroups. What is known:• Long-term health and developmental outcomes of IVF-conceived children remain inconsistent across studies and populations, despite the widespread use of this technology. What is new:• A nationwide population-based cohort study in Japan did not show adverse effects of IVF on long-term child health and development through age 9.• These findings provide reassurance about the safety of IVF, while indicating the need for careful monitoring in specific subgroups such as preterm and multiple births.

The Relationship Between Stunting and Delays in Motor and Cognitive Development in Infants Aged 0-24 Months

Aims: This Research to elucidating the relationship between stunting and delays in motor and cognitive development. Infants aged 0-24 months were selected for investigation because this period is a critical window during which the impact of stunting is most evident in the physical and mental development of children. Instrument & Method. The research instruments used include in-depth interviews with mothers of infants and local health workers as well as direct observation of infant motor and cognitive development. The research method applied was a qualitative approach with thematic analysis. Findings The results showed that stunting has a significant contribution to delays in motor and cognitive development, especially in infants aged 12-24 months. These delays are seen in motor skills such as sitting and walking, as well as cognitive delays in responding to stimuli and communicating. Conclusion: The findings of this research demonstrate a strong correlation between stunting and delays in motor and cognitive development in infants aged 0-24 months. Infants with stunted growth exhibit significant delays in reaching motor developmental milestones, such as sitting, crawling, and walking, as well as delays in cognitive abilities, including responding to stimuli, remembering, and speaking.

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

BHLHE22 encodes a Class II basic helix-loop-helix transcription factor (bHLH). It is expressed exclusively in the retina and central nervous system (CNS), and functions as an important regulator of retinogenesis and neuronal differentiation. Mice lacking bhlhe22 show nearly complete loss of three brain comminsure, including the corpus callosum. Here we report eleven individuals from nine unrelated families with BHLHE22 variants, with a neurodevelopmental disorder presenting with absent or limited speech, severely impaired motor abilities, intellectual disability (ID), involuntary movements, autistic traits with stereotypies, abnormal muscle tone. The majority of individuals have partial or complete agenesis of the corpus callosum (ACC). Additional symptoms comprised epilepsy, variable dysmorphic features, and eye anomalies. One additional individual had spastic paraplegia without delayed development and ACC, expanding the phenotype to milder and later onset forms. Four individuals carry de novo missense variants within the highly conserved helix-loop-helix domain while seven individuals from five unrelated families carry a recurrent homozygous frameshift variant, p.(Gly74Alafs*18). Our findings implicate BHLHE22 variants in causing a previously unidentified autosomal dominant and recessive neurodevelopmental disorder associated with ACC, severe motor, language, and cognitive delays, abnormal tone, and involuntary movements. To our knowledge, this is the first report of Class II bHLH variants in humans shown to significantly disrupt brain development, cognition, and movement.

Alzheimer's Disease May Benefit from Olive Oil Polyphenols: A Systematic Review on Preclinical Evidence Supporting the Effect of Oleocanthal on Amyloid-β Load.

Mediterranean diet may enhance cognitive function and delay the progression of Alzheimer's disease (AD). We conducted a systematic review to investigate the effect of oleocanthal (OC) from extra-virgin olive oil (EVOO) on amyloid-β (Aβ) burden in preclinical models of AD, considering the anti-inflammatory and neuroprotective effects of EVOO biophenols, which are key components of the Mediterranean dietary model. The literature was searched through six electronic databases until February 2023. Screening of 52 retrieved articles for inclusion criteria resulted in 7 preclinical reports evaluating the effect of an OC-supplemented diet on AD trajectories by means of Aβ load or clearance in affected models. Reports were appraised for risk of bias using the SYRCLE's RoB tool. A protocol was registered on PROSPERO. Case control prevailed over the case-crossover design, and the geographical distribution was uniformly American. The study population mostly included 5xFAD, otherwise TgSwDI or wild-type C57BL/6 mouse models. We found a role of OC in reducing Aβ load in the hippocampal parenchyma and microvessels compared with controls. An increased cerebral clearance of Aβ through the bloodbrain barrier and a substantial improvement in metabolic and behavioral parameters were also reported in preclinical models under an OC-enriched diet. The risk of bias was shown to be moderate overall. Preclinical data are promising about the effects of OC from the Mediterranean diet's EVOO in relieving the burden of Aβ in AD; however, further evidence is needed to corroborate the efficacy of this biophenol and strengthen the speculated causal pathway.

Gamma Wave Stimulation Affects BACE1 Levels and Promotes the Transition of Microglia from M1 State to M2 State

Alzheimer’s disease (AD) is a devastating neurodegenerative disorder and it presents with the hallmark neuropathological features of amyloid-beta (Aβ) plaques, tau tangles and active neuroinflammation. Beta-site amyloid precursor protein cleaving enzyme 1 (BACE-1), a key mediator of increased Aβ, has been identified as the primary enzymatic source for production of this pathologic peptide while reactive microglial cells contribute to ongoing neurodegeneration perhaps through activation into their aggressive M1 state. The present study endeavors for the first time to address how gamma wave stimulation modulates BACE1 and microglial polarization (from M1 to beneficial M2) in different AD models. We hypothesize that gamma wave stimulation will reduce BACE1, decrease Aβ plaque burden and shift microglials towards M2 phenotype leading to reduced neuroinflammation and maintain cognitive function. This study will target mouse models of AD which have undergone gamma wave stimulation and its effects on BACE1 expression, microglial polarisation markers, Aβ plaque load and cognitive performance. Hypotheses the treatment will reduce BACE1 activity, decrease M1/M2 microglial ratio, improve cognitive performance and delay Aβ plaque accumulation These data suggest promising therapeutic strategies for neuroinflammation and amyloidogenesis in AD.

Long-term cognitive training enhances fluid cognition and brain connectivity in individuals with MCI

Amnestic mild cognitive impairment (aMCI) is a risk factor for Alzheimer’s disease (AD). Multi-domain cognitive training (CT) may slow cognitive decline and delay AD onset. However, most work involves short interventions, targeting single cognitive domains or lacking active controls. We conducted a single-blind randomized controlled trial to investigate the effect of a 6-month, multi-domain CT on Fluid Cognition, functional connectivity in memory and executive functioning networks (primary outcomes), and white matter microstructural properties (secondary outcome) in aMCI. Sixty participants were randomly assigned to either a multi-domain CT or crossword training (CW) group, and thirty-four participants completed the intervention. We found a significant group-by-time interaction in Fluid Cognition (p = 0.007, F (1,28) = 8.26, Cohen’s d = 0.38, 95% confidence interval [CI]: 2.45–14.4), with 90% of CT patients showing post-intervention improvements (p < 0.01, Cohen’sd = 0.7). The CT group also showed better post-intervention Fluid Cognition than healthy controls (HCs, N = 45, p = 0.045). Functional connectivity analyses showed a significant group-by-time interaction (Cohen’s d ≥ 0.8) in the dorsolateral prefrontal cortex (DLPFC) and inferior parietal cortex (IPC) networks. Specifically, CT displayed post-intervention increases whereas CW displayed decreases in functional connectivity. Moreover, increased connectivity strength between the left DLPFC and medial PFC was associated with improved Fluid Cognition. At a microstructural level, we observed a decline in fiber density (FD) for both groups, but the CT group declined less steeply (1.3 vs. 2%). The slower decline in FD for the CT group in several tracts, including the cingulum-hippocampus tract, was associated with better working memory. Finally, we identified regions in cognitive control and memory networks for which baseline functional connectivity and microstructural properties were associated with changes in Fluid Cognition. Long-term, multi-domain CT improves cognitive functioning and functional connectivity and delays structural brain decline in aMCI (ClinicalTrials.gov number: NCT03883308).

Caregiver Experiences, Healthcare Provider Perspectives and Child Outcomes with Virtual Care in a Neonatal Neurodevelopmental Follow-Up Clinic: A Mixed-Methods Study

Background: Caregiver and healthcare provider perspectives of virtual care have not been explored in depth in the literature for neonatal follow-up clinics. Our objective was to evaluate caregivers’ and healthcare providers’ perspectives and compare neurodevelopmental outcomes of preterm neonates before and after implementing virtual care during the SARS-CoV-2 pandemic. Methods: Semi-structured interviews were conducted with families and healthcare providers, designed and analyzed using phenomenological qualitative methods. A retrospective cohort study was conducted to evaluate and compare neurodevelopmental characteristics of two preterm cohorts, one before (“in-person”) and after (“virtual”) virtual care. Results: Three themes were identified: increased confidence in in-person assessments, adequate delivery of information using virtual platforms and a preference for specialized care through the neonatal follow-up clinic. A total of 252 infants born preterm, 104 infants in the in-person group and 148 infants in the virtual group, were included in the study. The adjusted odds ratio (aOR) of cerebral palsy was lower when virtual care was used compared to in-person assessments (aOR = 0.11, 95% CI 0.01–0.98) while the adjusted odds of cognitive delay measured by in-person standardized testing were higher (aOR = 2.78, 95% CI 1.25–6.19). Conclusions: Caregivers and healthcare providers prefer in-person assessments for comprehensive developmental support. It may be more challenging to detect subtle cognitive differences using caregiver-reported measures. Cerebral palsy may be missed when assessments are completed virtually.

Parent screening questionnaires to detect cognitive and language delay at 2 years in high-risk infants: an analysis from the Victorian Infant Collaborative Study 2016–2017 cohort

ObjectiveTo determine the accuracy of two developmental screening questionnaires to detect cognitive or language delay, defined using the Bayley Scales of Infant and Toddler Development-Third Edition (Bayley-III), in children born...

Enhancing daily life for children with cognitive developmental delay through insights into brain development.

Cognitive developmental delay, including severe intellectual disability (IQ below 70) and borderline intellectual functioning (IQ 70-85), poses significant challenges, including high costs and emotional burden. Early diagnosis and interventions might improve adaptive behavior and daily life functioning. High-risk groups include children with neonatal complications, congenital anomalies, genetic disorders, or metabolic errors, yet over 50% of cases have unknown causes. To provide timely diagnosis and intervention for children with cognitive developmental delay, it is important to increase our understanding and ability to prognosticate their level of functioning. The pivotal role of brain development in the first few years of life presents a window of opportunity for these goals. By detailed investigation of common patterns in structural brain development and connectivity by MRI in relation to cognitive and executive functioning, this review aims to identify potential factors that might improve understanding and prognostication of children with cognitive developmental delay. Exploring similarities among diverse patient groups with childhood cognitive developmental delay, this review intends to provide a nuanced perspective. IMPACT: This review identified several MRI brain developmental markers, especially in the white matter, that might hold potential to be a prognostic marker for intellectual and executive functioning in children with cognitive developmental delay. Bringing together information on aberrant brain developmental trajectories and connectivity across different patient childhood populations with cognitive developmental delay might improve our understanding and prognostication.

Thyroid-stimulating hormone (TSH) mediates the associations between maternal metals and neurodevelopment in children: A prospective cohort study

Insufficient research has focused on the effects of metal mixtures on children's neurodevelopment and TSH's potential mediating effect. Plasma concentrations of ten metals were measured among 2887 pregnant women in a persistent Chinese birth cohort. At age two, children's neurodevelopment was assessed using mental development indexes (MDIs) and psychomotor development indexes (PDIs), defining neurodevelopmental delay as MDI≤ 79 (cognitive delay) or PDI≤ 79 (motor delay). The associations between single and mixed metals with neurodevelopment delay risk were examined using generalized linear regression complemented by weighted quantile sum (WQS) regression. To investigate the mediated effects of infant Thyroid-Stimulating Hormone (TSH) on metal-associated neurodevelopment delay risk, mediation analyses were conducted. According to the single-metal model, V, Mn, and Pb levels are positively associated with neurodevelopment delay. The WQS model found consistent associations (Odds Ratio [OR] 1.55, 95% Confidence Interval [CI] 1.23 to 1.95), highlighting V, Mn, and Pb as the main causes of cognitive delay. Further mediation analysis revealed that the association between metals (mainly V, Mn, and Pb) and neurodevelopment delay risk is mediated by TSH, with proportions ranging from 3.18 to 10.14% (all P < 0.05). Our findings highlighted prenatal exposure to metals was associated with higher risks of neurodevelopmental delay, with TSH possibly mediating this effect.

External validation of dementia prediction models in Black or African American and White older adults: A longitudinal population-based study in the United States.

Identifying people at high risk of Alzheimer's disease (AD) dementia allows for timely intervention, which, if successful, will result in preventing or delaying the onset of the disease. Utilizing data from the Chicago Health and Aging Project (CHAP; n=2130), we externally evaluated four risk-prediction models for AD dementia, including Cardiovascular Risk Factors, Aging, and Dementia (CAIDE), Australian National University Alzheimer's Disease Risk Index (ANU-ADRI), Brief Dementia Screening Indicator (BDSI), and Dementia Risk Score (DRS), in Black or African American and White adults. BDSI had the highest discriminate abilities for AD dementia (c-statistics of 0.79 in Black and 0.77 in White adults), followed by ANU-ADRI, within the age range and follow-up period of the original development cohort. CAIDE had the lowest discriminating power (c-statistic≤0.55). With increasing follow-up periods (i.e., 10-15 years), the discrimination abilities for all models declined. Because of racial disparities in AD dementia and longer preclinical and prodromal stages of disease development, race-specific models are needed to predict AD risk over 10 years. Utilizing risk-prediction models to identify individuals at higher risk of Alzheimer's disease (AD) dementia could benefit clinicians, patients, and policymakers. Clinicians could enroll high-risk individuals in clinical trials to test new risk-modifiable treatments or initiate lifestyle modifications, which, if successful, would slow cognitive decline and delay the onset of the disease. Current risk-prediction models had good discriminative power during the first 6 years of follow-up but decreased with longer follow-up time. Acknowledging the longer preclinical phase of AD dementia development and racial differences in dementia risk, there is a need to develop race-specific risk-prediction models that can predict 10 or 20 years of risk for AD and related dementias.

Prenatal maternal diabetes, comorbidities, and risk for neurodevelopmental impairment in the first two years.

Maternal diabetes is a known risk for neurodevelopmental delay in offspring, and often presents with comorbid metabolic conditions, such as obesity and hypertension. However, their combined effects on neurodevelopmental outcomes remain unclear. We investigated the independent and combined associations of maternal diabetes and comorbidities with the risk of neurodevelopmental delay in children aged 12 and 24 months. A prospective longitudinal cohort of children from Pregnancy during the COVID-19 Pandemic study. Neurodevelopmental screening at 12 and 24 months was conducted using the Ages and Stages Questionnaire, which assesses domain-specific development. Maternal diabetes was not associated with neurodevelopmental risks either at 12 or 24 months. However, in combined analyses, maternal diabetes and pre-pregnancy overweight were associated with an increased risk of neurodevelopmental delay in personal-social skills (odds ratio [OR], 1.75 [95%CI,1.01-3.01]) at 24 months, though not at 12 months. Maternal diabetes and pre-pregnancy obesity were also associated with an increased risk for neurodevelopmental delay in communication (OR, 1.71 [95%CI,1.01-2.82]) and personal-social skills (OR, 2.01 [95%CI,1.03-3.73]) at 24 months. Furthermore, maternal diabetes and hypertensive disorders of pregnancy (HDP) had higher rates of positive screening for delay in fine-motor skills (OR, 3.54 [95%CI, 1.28-8.41]) at 12 months but not at 24 months. Post-hoc analysis revealed an independent association of maternal pre-pregnancy obesity, but not overweight, with an increased risk of neurodevelopmental delay in communication, fine-motor, and personal-social skills (ORs ranging from 1.44 to 1.71) at 24 months but not 12 months. Similarly, there was an independent association of maternal HDP with an increased risk of neurodevelopmental delay in fine-motor and and personal-social skills (ORs ranging from 2.01 to 2.19) at 24 months. Maternal diabetes with comorbid conditions is likely to increase the risk of neurodevelopmental delay during infancy than individual exposure, suggesting the persistent influence of prenatal exposure on offspring neurodevelopment. 1. Identifying modifiable prenatal risk factors for neurodevelopmental impairment in offspring is crucial for targeted interventions and providing support to mothers during pregnancy, which can lead to improved child health outcomes. 2. Maternal diabetes was not associated with neurodevelopmental delays in children at 12 or 24 months. 3. Maternal diabetes in combination with pre-pregnancy overweight or obesity increased the risk of cognitive delay at 24 months. 4. Maternal pre-pregnancy obesity but not overweight, and hypertensive disorders of pregnancy independently increased risks of cognitive and motor delays at 24 months.

Effects of Combined Visual-Motor Response Training on Cognitive Function and Brain Plasticity Mechanisms in Various Populations: Protocol for a Single-Center, Open-Label, Controlled Clinical Trial.

Cognitive impairment is one of the major diseases facing the aging population. The progressive decline of cognitive function can lead to declining health or even the loss of life, work, and social ability. Exercise and behavioral stimulation can increase neurotransmitters in the brain and improve overall health and cognitive function. Reactivity training can mobilize neuromuscular function and induce changes in brain plasticity, which may effectively improve cognitive dysfunction and delay the occurrence and development of Alzheimer disease; however, the evidence supporting its effectiveness is still limited. This study aims to explore the effectiveness and reliability of visual-motor reaction training in improving cognitive function, thereby promoting the application of novel nonpharmacological therapies. This study is a single-center, open-label, controlled clinical trial. A total of 78 participants will be recruited for the study, including an equal number of athletes, ordinary healthy college students, and ordinary older adults in the community. Participants will receive 2 weeks of visual-motor response training. The primary outcome of this study is to assess differences in functional magnetic resonance imaging (fMRI) at 2 weeks. The secondary outcomes were the following: acousto-optic response time, Hamilton Depression Rating Scale (HAM-D), Hamilton Anxiety Rating Scale (HAM-A), Mini Mental State Examination (MMSE), Activity of Daily Living (ADL) Scale, Subjective Cognitive Decline Questionnaire-9 (SCD-Q9), a 10-word memory test, and safety. The study was approved by the Shanghai Clinical Research Ethics Committee on January 2, 2024 (SECCR/2023-162-01). As of September 11, 2024, we have completed the recruitment of all 3 groups of volunteers. We expect to complete data collection and analysis by February 2025. The purpose of this study is to compare improvements in brain perceptual motor functions and cognitive levels across different populations through response ability training and to explore the efficacy and safety of exercise-based nonpharmacological therapies in improving cognitive function. Other potential benefits include understanding the functional differences and perceptual characteristics of the brain's perceptual-motor system between athletes and the general population and exploring the adaptability of the brain in acquiring skills during competitive sports training. This could provide an evidence base for early sports talent development and broader youth development. Chinese Clinical Trial Registry ChiCTR2400079602; https://tinyurl.com/23fbbndw. DERR1-10.2196/56424.

Key neuroprotective mechanisms of the MIND diet - a review paper

Introduction and purpose: Impaired cognitive function is a growing public health problem, where dementia is affecting about 47 million people worldwide, and that number is expected to triple by 2050. The MIND (Mediterranean-DASH Intervention for Neurodegenerative Delay) diet is intended to overcome this problem. This article aims to raise awareness of the MIND diet, highlighting how dietary choices can promote cognitive health and delay disease progression. Brief description of the state of knowledge: The MIND diet focuses on foods that support cognitive health and may mitigate these degenerative processes. It emphasizes green leafy vegetables, berries, nuts, olive oil, whole grains, fish, and poultry while limiting red meat, dairy, sweets, and fried foods. These products contain several components with multidirectional neuroprotective effects. Material and method: This work was based on material found on Google Scholar. Articles were selected based on citation counts, publication dates, and relevance, ensuring a comprehensive review of recent findings on the MIND diet's impact on cognitive health. Summary: The MIND diet enhances brain health by incorporating nutrient-dense foods that reduce inflammation, combat oxidative stress, and support neuronal function. Green leafy vegetables, berries, nuts, whole grains, and healthy fats work together to improve cognitive function, support synaptic plasticity, and protect brain structure, leading to slower cognitive decline and a lower risk of neurodegenerative diseases.

Phenotypes of 126 Moroccan HIES patients according to NIH Score.

Hyper-IgE syndrome is a group of inborn errors of immunity, some of which are syndromic, characterized clinically by the classic triad of chronic eczema, cutaneous and/or pulmonary staphylococcal infections and high serum IgE concentrations (> 2000 IU/ml or > 10 x normal for age). We report here the clinical and immunological aspects of Moroccan patients presenting probable or possible HIES according to NIH-HIES score. This retrospective study covers the period from 1998 to 2023 and includes Moroccan patients with a clinical presentation suggestive of HIES (skin and/or pulmonary infections, eczema, high IgE levels) and an NIH score ≥ 20. We attempted to classify the patients phenotypically according to the 2022 IUIS IEI Expert Committee classification. Median age at symptom onset was 0.5 years and median age at diagnosis was 5.5 years. The main clinical signs were eczema (66%), skin abscesses (32.5%), pneumonia (32.5%), otitis (20%), mucocutaneous candidiasis (19%), diarrhea (12%), facial dysmorphism (10.3%), lymphadenopathy (9.5%), bronchial dilation (8%), pneumatoceles (8%), conjunctivitis (7.1%), rhinitis (6.3%), psychomotor delay (5.6%), pathological fractures (4%), retention of deciduous teeth (4%), cognitive delay (3.2%). This is the first clinical description of a cohort of Moroccan patients presenting HIES according to NIH criteria. Phenotype can sometimes orient towards identification of the mutated gene, but the overlapping clinical signs make molecular analysis necessary for genetic counseling and appropriate treatment.

A Review of Official Documents and Literature on the Forgotten Victims of Parental Incarceration in South Africa

This article is a literature synthesis of the living conditions of black children after their parent's imprisonment. In Africa, the prison population currently stands at 1,194,497, while in South Africa, 147,922 people were being held in correctional facilities as of January 2021. Parental incarceration has affected all children, regardless of race, age, or cultural background. An increasing amount of research indicates that children with incarcerated parents are prone to internalized behaviors such as depression, anxiety, and withdrawal, as well as externalized behaviors including criminality and substance use. They may also experience cognitive delays, academic struggles, and insecure attachments in their relationships with both their imprisoned parents and primary caregivers. The term "caregiver" denotes the individual who assumes the role of the child's main caregiver while the parents are incarcerated. It is important to note that the literature focusing on child-headed households in South African informal settlements and townships may be limited. This paper is a narrative synthesis of the literature review and uses secondary sources.

Treatment of Spastic quadriplegia resulting from hypoxia in newborn through body engineering technique-hand therapy Case Report Described by Parents: Qualitative study

Objectives: Summary of Case Report on Spastic quadriplegia accompanied by several disabilities. Treatment with Body Engineering/Hand Therapy. This case report describes the successful treatment of a 4 years old girl who was diagnosed with Spastic quadriplegia and global developmental delay accompanied with relapse, slurred speech, and cognitive delay resulting from hypoxia during child birth. To report a case of a girl who suffered Spastic quadriplegia, seizures, and delay in speech and perception due to hypoxia and to highlights the critical role of body engineering techniques for the rehabilitation of children with similar cases. Methods: An informed case report was given by from the child's parents. Functional recovery was achieved through a customized rehabilitation plan according to the body engineering / hand therapy techniques We highlight: -Medical Management for such cases. -A rehabilitation plan based on body engineering/ hand therapy techniques that led to complete recovery. -Satisfaction of the patient's parents after treatment. Results: Treating the patient through body engineering (hand therapy) and rehabilitating him for a full year led to the appearance of signs of clinical and radiographic improvement. Conclusions: Hypoxia-induced spastic quadriplegia often results in multiple disabilities, as seen in this case. Early intervention using body engineering techniques can lead to significant improvements in physical and cognitive functions. Continuous monitoring and rehabilitation are recommended to sustain progress and prevent relapses (Odding et al., 2006). Based on the provided information, body engineering and hand therapy have proven to be highly effective in rehabilitating a girl with hypoxia-induced cerebral palsy. Through a comprehensive rehabilitation program, the patient's physical, cognitive, and communication abilities have significantly improved. This case report underscores the importance of early intervention in maximizing outcomes for children with spastic quadriplegia. By providing ongoing support and tailoring rehabilitation programs to individual needs, it is possible to help these children reach their full potential, aligning with the World Health Organization's definition of rehabilitation as a process to improve performance and reduce disability.

Developmental screening of neurodevelopmental disorders before age 6: a nationwide health screening program.

We aimed to investigate the association between developmental screening before 24 months of age and neurodevelopmental disorders (NDDs) at 4-6 years of age. We included 922,899 newborn born between 2014 and 2016 registered in National Health Insurance Service (NHIS). Developmental screening was administered at 9-12 and 18-24 months old with the Korean Developmental Screening Test for Infants & Children (K-DST). Diagnoses of NDDs was based on the World Health Organization's International Classification of Diseases, Tenth Revision (ICD-10), provided by the NHIS database. Among 637,277 individuals who underwent screening at 9-12 and 18-24 months, Screen-positivity (defined as summed score < -2 standard deviation) for gross motor domain at 9-12 months was significantly associated with the incidence of autism spectrum disorder (aHR, 2.24; 95% CI, 1.80-2.80) and cerebral palsy (aHR, 4.81; 95% CI, 3.62-6.38). Screening positive at language domain at 18-24 months old was associated with autism spectrum disorder (aHR 5.50; 95% CI, 4.31- 7.02) and developmental language disorder (aHR 8.67; 95% CI, 7.27-10.33) at 4-6 years of age. Widespread nationwide implementation of screening programs before 24 months was effective in identifying NDDs at 4-6 years of age. Further strategies integrating with referral and intervention systems should be established. We investigated the screening effect of nationwide developmental screening program on neurodevelopmental disorders using nationwide data. Gross motor delay during infancy was significant predictor of later neurodevelopmental disorders. Language, cognitive, and social delay before 24 months of age was associated with later autism spectrum disorders and developmental language disorders. Widespread nationwide implementation of screening programs before 24 months was effective in identifying NDDs at 4-6 years of age and should be encouraged.

Early childhood growth trajectories and early adolescent cognitive achievement: the role of catch-up

Human capital deficits in early childhood in terms of health and cognitive developmental issues are conceptualized as a lurking threat to China’s future economic growth by a growing body of scholarly literature; however, it is unknown whether these deficits persist into adolescence. This study draws upon longitudinal, nationally-representative data from the China Family Panel Studies 2010–2020 to investigate the possibility of recovering from early growth retardation and the potential implications for recovery of related cognitive outcomes. In particular, the paper considers whether there is evidence of cognitive catch-up from early cognitive delays. Based on group-based trajectory models with inverse probability of treatment weighting, this study finds that mid-childhood catch-up growth may mitigate the negative effects of early childhood stunting on early adolescent academic performance. Moreover, children who recover from stunting demonstrate cognitive catch-up in Chinese but not in math. This evidence not only reaffirms the significance of early childhood development but also suggests an opportunity for interventions to avert undernutrition and cognitive deficits after early childhood.

Systemic complications of Aicardi Goutières syndrome using real-world data

ObjectiveAicardi Goutières Syndrome (AGS) is a rare genetic interferonopathy associated with diverse multisystemic complications. A critical gap exists in our understanding of its longitudinal, systemic disease burden, complicated by delayed diagnosis. To address this need, real-world data extracted from existing medical records were used to characterize the longitudinal disease burden. MethodsAll subjects (n = 167) with genetically confirmed AGS enrolled in the Myelin Disorders Biorepository Project (MDBP) were included. As available in medical records, information was collected on subject demographics, age of onset, and disease complications. Information from published cases of AGS (2007–2022; n = 129) with individual-level data was also collected. Neurologic severity at the last available encounter was determined by retrospectively assigning the AGS Severity Scale [severe (0–3), moderate (4–8), and mild (9–11)]. ResultsThe genotype frequency in the natural history cohort was TREX1 (n = 26, 15.6 %), RNASEH2B (n = 50, 29.9 %), RNASEH2C (n = 3, 1.8 %), RNASEH2A (n = 7, 4.2 %), SAMHD1 (n = 25, 15.0 %), ADAR (n = 34, 20.4 %), IFIH1 (n = 19, 11.4 %), and RNU7–1 (n = 3, 1.8 %). The median age of systemic onset was 0.15 years [IQR = 0.67 years; median range by genotype: 0 (TREX1) - 0.62 (ADAR) years], while the median neurological onset was 0.33 years [IQR = 0.82 years; median range by genotype: 0.08 (TREX1) - 0.90 (ADAR) year].The most common early systemic complications were gastrointestinal, including dysphagia or feeding intolerance (n = 124) and liver abnormalities (n = 67). Among postnatal complications, thrombocytopenia appeared earliest (n = 29, median 0.06 years). Tone abnormalities (axial hypotonia: n = 145, 86.8 %; dystonia: n = 123, 73.7 %), irritability (n = 115, 68.9 %), and gross motor delay (n = 112, 7.1 %) emerged as the most prevalent neurological symptoms. Previously published case reports demonstrated similar patterns.The median AGS score for the entire cohort was 4 (IQR = 7). The most severe neurologic phenotype occurred in TREX1-related AGS (n = 19, median AGS severity score 2, IQR = 2). Time to feeding tube placement, chilblains, early gross motor delay, early cognitive delay, and motor regression were significantly associated with genotype (Fleming-Harrington log-rank: p = 0.0002, p < 0.0001, p = 0.0038, p < 0.0001, p = 0.0001, respectively). Microcephaly, feeding tube placement, and seizures were associated with lower AGS scores (All: Wilcoxon rank sum test, p < 0.0001).Among the qualifying case reports (n = 129), tone abnormalities were the most prevalent disease feature, with spastic quadriplegia reported in 37 of 96 cases (38.5 %) and dystonia in 30 of 96 cases (31.2 %). ConclusionsAGS is a heterogeneous disease with multi-organ system dysfunction that compounds throughout the clinical course, resulting in profound neurological and extra-neurological disease impact. Systemic symptoms precede neurologic disease features in most cases. Disease onset before the age of one year, microcephaly, feeding tube placement, and seizures were associated with worse neurological outcomes. This work will inform evidence-based clinical monitoring guidelines and clinical trial design.