Down Syndrome Research Articles

Developmental Profile in Children Aged 3-6 Years: Down Syndrome vs. Autism Spectrum Disorder.

This research aims to compare the developmental profiles of children with autism spectrum disorder (ASD) and children with Down Syndrome (DS) between the ages of 3 and 6 years. The study examines whether these developmental disorders share common developmental milestones or exhibit distinctive characteristics. A total of 43 children, 23 with DS and 20 with ASD, participated in the study. Cognitive and language skills were assessed using standardized tools, including the Battelle Developmental Inventory, Reynell Developmental Language Scales III, and NEPSY-II battery. The results indicated that children with ASD outperformed children with DS in the areas of fine motor skills, gross motor skills, and communication. Additionally, children with ASD demonstrated higher scores in language comprehension and expressive language, compared to children with DS. Significant correlations were found between motor skills and communication abilities. Neuropsychological evaluations revealed significant differences between the two groups in various tasks, such as the comprehension of instructions, body part naming and identification, and recognition of emotions. These findings contribute to our understanding of the similarities and differences between ASD and DS, shedding light on the dissociation between cognition and language and its impact on adaptive functioning in these populations.

Gaze and tactile sense

Background: Visual and hearing impairments are common co-morbid conditions for Down syndrome (DS). Combined sensory loss can present major communication challenges, which affect the opportunities for equal participation, learning, and development. This article focuses on facilitating social interaction. Method: The study uses conversation analysis based on video recordings of naturally occurring interaction during various activities in school. The sample consists of five children with DS and combined sensory loss and their teachers. Results: The results indicate that the pupils use gaze and vision actively in interaction with adults and respond actively to the other’s communicative use of gaze. Gaze is an important resource for the pupils and is strategically used to regulate, orient, and establish attention, but also to express interest and intention. Discussion/conclusion: Despite the pupils’ visual impairment, eye contact plays an important role in their communication. To optimize meaning-making and communicative participation, it is important to have knowledge of the individual child’s specific sensory and communication challenges as they occur in social interaction. This will increase the opportunity to uncover pupils’ communicative strategies, resources, and tactile preferences, which in turn are prerequisites for the facilitation of participation, learning, and development.

Insights into The Prenatal and Postnatal Knowledge & Critical Observations of Parents with Children who Have Down Syndrome: A Single Center Study

Introduction: Down syndrome (DS) is one of the many genetic syndromes commonly confronted by pediatricians. These people commonly share a few features which include a low level of muscle tone (hypotonia), learning disabilities, and abnormalities of the cranium and facial parts. Aims and Objectives: To assess the pre and postnatal knowledge, of parents with Down syndrome children. Place and Duration of study: This descriptive cross-sectional study was conducted in Shifa International Hospital (SIH), by Final year medical students, in association with the Cytogenetics Department. between December 2019 to September 2021 Material and Methods: All the chidren diagnosed with Down Syndrome at the SIH and their parents were invited to participate in our study. Convenience sampling was used depending solely on the number of parents who had accepted our invitation. A total sample size of 35 was included, of which 15 agreed to participate. A detailed questionnaire having both close ended and open questions in English and Urdu was filled out by those parents who consented. Data was entered and analysed using SPSS version 24.0. pvalue ?0.05 was taken as significant. Results: Our results showed that 11 of the 15 DS children i.e., 73.3% were male and 4 out of 15 i.e., 26.6% were females. None of these children had siblings with the same disorder. 13 of the 15 cases (86.6%) were diagnosed post- natally only 2 cases (13.3%) pre-natally. All the cases i.e., 100% were diagnosed by a pediatrician and none were diagnosed by an obstetrician. Surprisingly increasing age of either parent seemed to increase the incidence of DS offspring. 60.0% (9 of the 15) of parents did not know the condition could be diagnosed prenatally. While 10 of 15 (66.6%) of them were aware of its general complications. Answering open ended questions parents identified the lack of awareness, special educational institutes, and presence of communication gap between them and doctors as some of the factors that hindered the welfare of DS children. Conclusion: Only one parent knew about DS complications pre-natally and only a few were aware that a pre-natal diagnosis could be formed. Postnatal knowledge of parents was sketchy also, especially regarding the future complications faced by DS children, Parents critically observed insufficient public awareness, societal taboos, paucity of local DS data and prenatal medical DS training, and consequently lack of govermnnental support required by special needs DS children in our country.

The Rapid Evaluation of Down Syndrome With Quantitative Fluorescence Polymerase Chain Reaction (QF-PCR): A Pilot Study Among the Population in Eastern Uttar Pradesh, India.

Background and objective Down syndrome (DS) is characterized by the presence of an additional chromosome; it is a typical chromosomal disorder causing intellectual disability in individuals. The diagnostic process for DS often involves conventional karyotyping, which can be time-consuming. Trisomy 21 and other chromosomal abnormalities may now be quickly and accurately diagnosed using quantitative fluorescence polymerase chain reaction (QF-PCR). In light of this, this study aimed to investigate chromosomal abnormalities in DS using conventional karyotyping and QF-PCR among thepopulation in easternUttar Pradesh, India. Methods Blood samples from 40individuals with clinically diagnosed DS were collected. Conventional karyotyping involved standard cytogenetic techniques, while QF-PCR utilized DNA extraction and analysis with chromosome-specific short tandem repeat (STR) markers. Results Various distinct physical characteristics were observed in the DS individuals, such as mongoloid slant and low-set ears. Karyotyping and QF-PCR analyses revealed different chromosomal configurations associated with DS trisomy 21, with additional chromosomal abnormalities found in some individuals, including partial monosomy 18 and mosaic trisomy 21. However, in a few cases, neither karyotyping nor QF-PCR revealed any abnormalities. Conclusions The study demonstrated that QF-PCR is a reliable and rapid method for diagnosing DS, providing results within 24 hours. This approach allows for the simultaneous diagnosis of a large number of samples and reduces the time required to obtain results. In the diagnostic procedure for DS, we believe QF-PCR will prove to be a usefultool. Furthermore, therapeutic interventions based on their clinical traits and molecular karyotyping can enhance the quality of life of people with DS.

Prevalence of Hypothyroidism and Cardiac Diseases Among Libyan Down Syndrome Patients

Hypothyroidism is among the commonest thyroid abnormality in patients with Down syndrome (DS). The purpose of this study was to determine the prevalence of hypothyroidism and cardiac defects among pediatric down syndrome patients attended Tripoli University Hospital. A retrospective study was conducted among children with DS seen at endocrine follow-up clinic in Tripoli University Hospital. Data were collected from patients' registration book and medical records. A total of 50 patients with DS were included in the study out of which 64% were females. Their median age at diagnosis was range between 10–14 years. Abnormal thyroid function was observed in 34 patients (68 %). Presence of chronic heart disease were seen in 30(60%) patients. Early diagnosis and management of thyroid abnormalities are important to decrease further impairment of cognition function in children with DS.

Micro-CT Imaging of Tracheal Development in Down Syndrome and Non-Down Syndrome Fetuses.

Down syndrome (DS) is associated with airway abnormalities including a narrowed trachea. It is uncertain whether this narrowed trachea in DS is a consequence of deviant fetal development or an acquired disorder following endotracheal intubation after birth. This study aimed to compare the tracheal morphology in DS and non-DS fetuses using microfocus computed tomography (micro-CT). Twenty fetal samples were obtained from the Dutch Fetal Biobank and divided into groups based on gestational age. Micro-CT images were processed to analyze tracheal length, volume, and cross-sectional area (CSA). Mean tracheal length and tracheal volume were similar in DS and non-DS fetuses for all gestational age groups. Mean, minimum, and maximal tracheal CSA were statistically significantly increased in the single DS fetus in the group of 21-24 weeks of gestation, but not in other gestational age groups. In 90% of all studied fetuses, the minimum tracheal CSA was located in the middle third of the trachea. Tracheal development in DS fetuses was similar to non-DS fetuses between 13 and 21 weeks of gestation. This suggests that the narrowed tracheal diameter in DS children may occur later in fetal development or results from postnatal intubation trauma. The narrowest part of the trachea is in majority of DS and non-DS fetuses the middle third. 3 Laryngoscope, 134:4389-4395, 2024.

Hypothyroidism in Patients with Down Syndrome: Prevalence and Association with Congenital Heart Defects.

This population-based study aimed to assess the prevalence of congenital hypothyroidism (CH) and overt hypothyroidism (OH) and their association with congenital heart defects (CHDs) in patients with Down syndrome (DS). The population included all live births residing in Tuscany (Italy) diagnosed with DS recorded in the Registry of Congenital Defects and in the Registry of Rare Diseases of Tuscany in the years 2003-2017. The prevalence of CH and OH in DS patients was calculated by sex and by period. The association of CH and OH with CHDs in DS patients was assessed using multivariate logistic regression. The cohort included 228 subjects. The prevalence of CH and OH was 11.4% (95%CI: 7.4-16.7%) and 12.7% (95%CI: 8.5-12.3%), respectively, with no significant difference by sex. A significant increase in the prevalence of CH (p < 0.0001) was found in the years 2010-2017 compared to the previous period, and among preterm infants (p = 0.009). The presence of CH was associated with a higher prevalence of CHDs (adjusted OR = 2.24, p = 0.082). A significant association between ventricular septal defects (VSDs) and the occurrence of OH (adjusted OR = 3.07, p = 0.025) was also observed. This study confirmed the higher prevalence of both CH and OH in DS compared to the general population. Furthermore, the risk of association between DS and CHDs was higher in the presence of CH, while VSDs are associated with OH, providing relevant insights into the epidemiology of hypothyroidism in DS and associated anomalies.

Assessing Uveitis Risk following Pediatric Down Syndrome Diagnosis: A TriNetX Database Study.

Background and Objectives: The risks of uveitis development among pediatric patients with Down syndrome (DS) remain unclear. Therefore, we aimed to determine the risk of uveitis following a diagnosis of DS. Materials and Methods: This multi-institutional retrospective cohort study utilized the TriNetX database to identify individuals aged 18 years and younger with and without a diagnosis of DS between 1 January 2000 and 31 December 2023. The non-DS cohort consisted of randomly selected control patients matched by selected variables. This included gender, age, ethnicity, and certain comorbidities. The main outcome is the incidence of new-onset uveitis. Statistical analysis of the uveitis risk was reported using hazard ratios (HRs) and 95% confidence intervals (CIs). Separate analyses of the uveitis risk among DS patients based on age groups and gender were also performed. Results: A total of 53,993 individuals with DS (46.83% female, 58.26% white, mean age at index 5.21 ± 5.76 years) and 53,993 non-DS individuals (45.56% female, 58.28% white, mean age at index 5.21 ± 5.76 years) were recruited from the TriNetX database. Our analysis also showed no overall increased risk of uveitis among DS patients (HR: 1.33 [CI: 0.89-1.99]) compared to the non-DS cohort across the 23-year study period. Subgroup analyses based on different age groups showed that those aged 0-1 year (HR: 1.36 [CI: 0.68-2.72]), 0-5 years (HR: 1.34 [CI: 0.75-2.39]), and 6-18 years (HR: 1.15 [CI: 0.67-1.96]) were found to have no association with uveitis risk compared to their respective non-DS comparators. There was also no increased risk of uveitis among females (HR: 1.49 [CI: 0.87-2.56]) or males (HR: 0.82 [CI: 0.48-1.41]) with DS compared to their respective non-DS comparators. Conclusions: Our study found no overall increased risk of uveitis following a diagnosis of DS compared to a matched control population.

Outcomes of surgical treatment of patellar instability in children with Down syndrome

Backgroundpatellar instability is a relatively frequent musculoskeletal disorder in children with Down syndrome (DS). However, such a condition has seldom been studied in the literature, even less its surgical treatment. Different techniques have been offered for this condition; the evidence for surgical options is scarce and primarily based on case reports or case series with few patients and heterogeneous techniques. Given this background, we aimed to evaluate the outcomes of a uniform kind of surgical procedure for such a condition that combined lateral soft tissue release, medial patellofemoral ligament (MPFL) reconstruction (using a partial-thickness quadriceps tendon autograft), the Roux-Goldthwait procedure, and V-Y quadricepsplasty (if needed).Materials and methodsThis retrospective study involved 11 skeletally immature patients (12 knees; 9 males and 2 females), 5.5 to 14.1 years of age, with DS who had patellofemoral instability (PFI) and were managed by this technique between October 2018 and March 2020. Preoperative radiography, CT scan, and MRI were performed to evaluate the physis status, lower limb alignment, patellar height, trochlear morphology, and any associated knee pathology. A functional knee assessment was done by using the Kujala score and the modified Lysholm score.ResultsThe mean time of follow-up (± SD) was 47.7 ± 5.8 months (range: 39–56). Pre-operatively, the Kujala score (± SD) was 52.6 ± 14.3 (range: (31–74), and at final follow-up, it was 92.2 ± 4.4 (range: (88–98), showing a significant improvement (P < 0.001). The preoperative modified Lysholm score (± SD) was 54.3 ± 8.1 (range: 39–62), and at final follow-up it was 92.4 ± 5.3 (range: 82–96), showing a significant improvement (P < 0.001). All patients had a stable patella without a recurrence of instability and regained full ROM. There was no incidence of a patellar fracture or femoral physis injury.ConclusionsOur proposed technique of combined soft tissue procedures, including lateral soft tissue release, MPFL reconstruction (using a partial-thickness quadriceps tendon autograft), the Roux-Goldthwait procedure, and V-Y quadricepsplasty, was an effective method for treating patellar instability in children with DS while avoiding physeal injury and patellar fracture. Functional scores and radiological outcomes were improved.Level of evidenceIV; retrospective case series.

Graves' disease in children with Down syndrome.

While subclinical or overt hypothyroidism are common in Down syndrome (DS); Graves' disease (GD) is rare (ranges 0.6-3%). We aimed to evaluate the clinical features, course, and treatment of GD in children with DS and compare them with those without DS. Among 161 children with GD, 13 (8 female, 5 male) had DS (8%). Data were collected retrospectively from patients' medical records. The mean age at diagnosis was 10.6 ± 4.5 years, with a female-to-male ratio 1.6:1. The main symptoms were weight loss (n = 6), increased irritability (n = 3), and increased sweating (n = 3). None had orbitopathy. Seven of 11 patients with a thyroid ultrasound at diagnosis had a goitre. On admission, all had thyroid-stimulating hormone (TSH) <0.01 mU/L (normal range (NR): 0.51-4.30), free triiodothyronine, free thyroxine (mean ± s.d .), and thyrotrophin receptor antibodies (median, range) were 22.2 ± 10.2 pmol/L (NR: 3.5-8.1), 50.2 ± 18.7 pmol/L (NR 12.6-20.9), and 17.0 (2.89-159.0) U/L (NR <1), respectively. Patients were treated either with methimazole (n = 10) or carbimazole (n = 3), a dose of 0.54 ± 0.36 mg/kg/day. The treatment was 'block and replace' in ten patients and 'dose titration' in three patients, with a mean duration of 43.4 ± 11.0 months. Of 13 patients, four are still receiving primary treatment, three are in remission, one patient had two medically treated recurrences, three underwent surgery without complications, and two patients were lost to follow-up. Our data show that the clinical course of GD in patients with DS was similar to those without DS and suggest that a prolonged medical therapy should be the preferred option.

Investigation of the Relationship between Burnout Level and Psychological Resilience in Parents of Children with Down Syndrome

AbstractThe aim of this study was to investigate the relationship between burnout level and psychological resilience in parents of children with Down syndrome (DS). This study was conducted at a Special Education and Rehabilitation Center in Türkiye between August and October 2022. The sample of the correlational and cross-sectional study consisted of 80 parents of children with DS. In this study, descriptive characteristics form (DFC), Maslach Burnout Inventory (MBI), and brief resilience scale (BRS) were used to collect data. The parents' mean scores on the emotional exhaustion subscale (EES) and personal achievement subscale (PAS) of MBI according to descriptive characteristics revealed statistically significant difference in the EES and PAS scores associated with the parents' age, gender, education status, working status, number of children in the family, and family type (p &lt; 0.05). The parents' mean scores on the BRS according to descriptive characteristics revealed statistically significant difference in BRS scores associated with the gender, educational status, working status, number of children, type of family, and presence of a chronic disease in the child (p &lt; 0.05). There was a strong negative correlation between the EES and the BRS (r = −0.740, p &lt; 0.05), and a strong positive correlation between the PAS and the BRS (r = 0.758, p &lt; 0.05). It was determined that parents' emotional exhaustion levels increased as their psychological resilience levels decreased, and parents' personal accomplishment increased as their psychological resilience levels increased.

Systematic review of continuous positive airway pressure for the treatment of obstructive sleep apnea in patients with Down syndrome

RATIONALE Down syndrome (DS) is a congenital condition highly associated with obstructive sleep apnea (OSA), a complex disorder with significant clinical consequences. Treatment options for OSA encompass drugs, intraoral devices, surgery, and continuous positive airway pressure (CPAP) Therapy. OBJECTIVES This systematic review aims to evaluate the impact of CPAP to treat OSA in individuals with DS, generating valuable insights on how to manage the condition in this population, preventing complications, and improving quality of life. METHODS A literature search was conducted using the MEDLINE (PubMed), EMBASE, Cochrane Library and LILACS databases. The search strategy combined individuals with DS and intervention with CPAP. MEASUREMENTS Observational studies, randomized and non-randomized clinical trials that reported outcomes such as AHI, mean oxygen saturation, EQ-5D, OSA-18, adherence, tolerance, ESS or ESS-CHAD were included. The methodological quality and risk of bias of the included studies were evaluated using ROB 2.0, ROBINS-I, and a questionnaire for non-comparative studies. The certainty of evidence was rated according to GRADE. MAIN RESULTS Eight studies were included, most favored CPAP in DS patients. Overall, CPAP reduced obstructive events during sleep, and patients showed good adherence and tolerance. Individuals also experienced improvements in daytime sleepiness; however, the intervention did not alter the patients’ quality of life. All outcomes were assessed with low or very low certainty of evidence. CONCLUSION The evidence found should be cautiously evaluated for extrapolation to clinical practice, due to methodological limitations and low-certainty outcomes.

Dual-specificity tyrosine phosphorylation-regulated kinase 1A promotes the inclusion of amyloid precursor protein exon 7

Extracellular amyloid plaques made of Amyloid-β (Aβ) derived from amyloid precursor protein (APP) is one of the major neuropathological hallmarks of Alzheimer’s disease (AD). There are three major isoforms of APP, APP770, APP751, and APP695 generated by alternative splicing of exons 7 and 8. Exon 7 encodes the Kunitz protease inhibitor (KPI) domain. Its inclusion generates APP isoforms containing KPI, APPKPI+, which is elevated in AD and Down syndrome (DS) brains and associated with increased Aβ deposition. Dual-specificity tyrosine phosphorylation-regulated kinase 1A (Dyrk1A) phosphorylates many splicing factors and regulates the alternative splicing of pre-mRNA. It is upregulated in DS and AD brain. However, it is not yet clear whether Dyrk1A could regulate APP alternative splicing. In the present study, we overexpressed or knocked down Dyrk1A in cultured cells and observed that Dyrk1A promoted the inclusion of both APP exons 7 and 8. Moreover, a significant increase in APP exon7 inclusion was also detected in the forebrain and hippocampus of human Dyrk1A transgenic mice – Tg/Dyrk1A. Screening for splicing factors regulated by Dyrk1A revealed that serine/arginine-rich protein 9G8 inhibited APP exon7 inclusion and interacted with APP pre-mRNA. In vitro, expression of exon 7 facilitated APP cleavage. In human Dyrk1A transgenic mice, we also found an increase in Aβ production. These findings suggest that Dyrk1A inhibits the splicing factor 9G8 and promotes APP exon 7 inclusion, leading to more APPKPI+ expression and APP cleavage and potentially contributing to Aβ production in vivo.

Cortical microinfarcts in adults with Down syndrome assessed with 3T-MRI.

Cortical microinfarcts (CMI) were attributed to cerebrovascular disease and cerebral amyloid angiopathy (CAA). CAA is frequent in Down syndrome (DS) while hypertension is rare, yet no studies have assessed CMI in DS. We included 195 adults with DS, 63 with symptomatic sporadic Alzheimer's disease (AD), and 106 controls with 3T magnetic resonance imaging. We assessed CMI prevalence in each group and CMI association with age, AD clinical continuum, vascular risk factors, vascular neuroimaging findings, amyloid/tau/neurodegeneration biomarkers, and cognition in DS. CMI prevalence was 11.8% in DS, 4.7% in controls, and 17.5% in sporadic AD. In DS, CMI increased in prevalence with age and the AD clinical continuum, was clustered in the parietal lobes, and was associated with lacunes and cortico-subcortical infarcts, but not hemorrhagic lesions. In DS, CMI are posteriorly distributed and related to ischemic but not hemorrhagic findings suggesting they might be associated with a specific ischemic CAA phenotype. This is the first study to assess cortical microinfarcts (assessed with 3T magnetic resonance imaging) in adults with Down syndrome (DS). We studied the prevalence of cortical microinfarcts in DS and its relationship with age, the Alzheimer's disease (AD) clinical continuum, vascular risk factors, vascular neuroimaging findings, amyloid/tau/neurodegeneration biomarkers, and cognition. The prevalence of cortical microinfarcts was 11.8% in DS and increased with age and along the AD clinical continuum. Cortical microinfarcts were clustered in the parietal lobes, and were associated with lacunes and cortico-subcortical infarcts, but not hemorrhagic lesions. In DS, cortical microinfarcts are posteriorly distributed and related to ischemic but not hemorrhagic findings suggesting they might be associated with a specific ischemic phenotype of cerebral amyloid angiopathy.

Focused attention and intrinsic motivation using animations for instruction of fundamental motor skills in children with Down syndrome.

Children with Down syndrome (DS) demonstrate poorer performance in locomotor and ball skills than children with typical development. During motor assessment, keeping children's attention and motivation is challenging, especially for children with DS, which may affect the test outcomes. This study aimed first to examine the impact of examiner and App-animation demonstrations during the assessment on the performance of fundamental motor skills, focus of attention and intrinsic motivation for children with DS and neurotypical development (NTD). The secondary aim was to examine the differences in those outcomes between children with DS and neurotypical development. A sample of 24 children (10 with DS and 14 with NTD) aged between 3 and 10years were subjected to two motor performance assessment protocols: a traditional protocol using the Gross Motor Development Test-3 (TGMD-3) and a protocol using animations from an application as support for TGMD-3 (AppP). The focus of attention was obtained from video recordings during protocol instruction (number of eye shifts, eye shift time, instruction focus time, number of instructions required and total instruction time). Intrinsic motivation was assessed by the Intrinsic Motivation Inventory (IMI) at the end of each protocol. The results showed no significant differences between the protocols for locomotor skills, ball skills and gross motor index. However, children with NTD outperformed those with DS in these skills. When analysing the focus of attention, children with DS showed greater ocular deviations and longer instruction time requested in the traditional protocol compared with AppP, even when compared with NDT children. When comparing protocols in both groups, AppP demonstrated fewer ocular deviations and shorter ocular deviation times. Regarding intrinsic motivation, children with DS in the traditional protocol had lower motivation scores than those with NTD. Regarding the purchase of protocols, in both groups, the AppP presented higher scores for interest/pleasure, perceived competence and general motivation, with lower pressure/tension. The animated application (AppP) proved effective as a visual support during the TGMD-3 assessment, particularly benefiting children with DS by enhancing motivation and attention.

Nutritional status and Mediterranean diet adherence of children with Down Syndrome and their siblings

Objectives This study aimed to investigate the nutritional status, eating practices, dietary intake, and dietary patterns of Down Syndrome (DS) individuals and their non-DS siblings. Methods This cross-sectional study was carried out with two groups, consisting of 34 DS individuals and 23 siblings. Socio-demographic data, anthropometric measurements, food consumption, and feeding difficulties were recorded. Dietary patterns are evaluated by the Mediterranean Diet Quality Index (KIDMED). The physical activity was measured with the Physical Activity Questionnaire for Older Children (PAQ-C). Results The rates of being overweight and obese were higher in the DS group according to the WHO BMI-z scores classification (p = 0.002). Even using Turkish DS-specific growth curves, being overweight and obese rates were higher (p = 0.041). No statistical difference was found in energy, macronutrient intake, and the mean KIDMED scores. However, most of the DS group had moderate adherence and most siblings had high adherence to the Mediterranean diet (p = 0.037). The PAQ-C scores were lower in the DS group (p = 0.039). Conclusions We conclude that DS individuals have higher rates of being overweight/obese even using DS-specific growth curves despite similar dietary patterns and nutrient intake. To prevent obesity in DS, it is important to evaluate their growth considering specific nutritional requirements.

L-Carnitine in the Treatment of Psychiatric and Neurological Manifestations: A Systematic Review.

L-carnitine (LC), a vital nutritional supplement, plays a crucial role in myocardial health and exhibits significant cardioprotective effects. LC, being the principal constituent of clinical-grade supplements, finds extensive application in the recovery and treatment of diverse cardiovascular and cerebrovascular disorders. However, controversies persist regarding the utilization of LC in nervous system diseases, with varying effects observed across numerous mental and neurological disorders. This article primarily aims to gather and analyze database information to comprehensively summarize the therapeutic potential of LC in patients suffering from nervous system diseases while providing valuable references for further research. A comprehensive search was conducted in PubMed, Web Of Science, Embase, Ovid Medline, Cochrane Library and Clinicaltrials.gov databases. The literature pertaining to the impact of LC supplementation on neurological or psychiatric disorders in patients was reviewed up until November 2023. No language or temporal restrictions were imposed on the search. A total of 1479 articles were retrieved, and after the removal of duplicates through both automated and manual exclusion processes, 962 articles remained. Subsequently, a meticulous re-screening led to the identification of 60 relevant articles. Among these, there were 12 publications focusing on hepatic encephalopathy (HE), while neurodegenerative diseases (NDs) and peripheral nervous system diseases (PNSDs) were represented by 9 and 6 articles, respectively. Additionally, stroke was addressed in five publications, whereas Raynaud's syndrome (RS) and cognitive disorder (CD) each had three dedicated studies. Furthermore, migraine, depression, and amyotrophic lateral sclerosis (ALS) each accounted for two publications. Lastly, one article was found for other symptoms under investigation. In summary, LC has demonstrated favorable therapeutic effects in the management of HE, Alzheimer's disease (AD), carpal tunnel syndrome (CTS), CD, migraine, neurofibromatosis (NF), PNSDs, RS, and stroke. However, its efficacy appears to be relatively limited in conditions such as ALS, ataxia, attention deficit hyperactivity disorder (ADHD), depression, chronic fatigue syndrome (CFS), Down syndrome (DS), and sciatica.

Complementary feeding practices of caregivers of infants with Down syndrome as compared to caregivers of typically developing infants

Caregiver feeding practices during the complementary feeding period (6 months–2 years) may be particularly important for infants with Down syndrome (DS) as they are at higher risk for later health conditions (e.g., obesity, diabetes) that can be influenced by early feeding practices. However, how well caregivers of infants with DS are meeting infant feeding evidence-based practices is relatively unknown. Caregivers of infants with DS (N = 75) and caregivers of typically developing (TD) infants (N = 66) aged 0–2 years completed an online survey about their infant feeding practices and information sources. Caregiver practices and information sources were statistically compared between groups. Results indicated that there are significant differences in the feeding practices of caregivers of infants with DS when compared to caregivers of TD infants. Caregivers of infants with DS were less likely to meet infant feeding evidence-based practices than caregivers of TD infants. Caregivers of infants with DS were also more concerned about their infant's food intake and later weight status. Some individual feeding practices also significantly differed between groups, with caregivers of infants with DS more likely to meet evidence-based practices of purchasing iron rich foods and avoiding added salt, but less likely to use responsive feeding practices than caregivers of TD infants. Caregivers of infants with DS were also less likely to receive information about how to navigate the complementary feeding period than caregivers of TD infants. Coupled with existing research, the results of the present study suggest that infant feeding evidence-based practices should be reviewed for their appropriateness for this population and additional support for caregivers of infants with DS should be implemented to help them navigate this important period.

IgG1 glycosylation highlights premature aging in Down syndrome.

Down syndrome (DS) is characterized by lowered immune competence and premature aging. We previously showed decreased antibody response following SARS-CoV-2 vaccination in adults with DS. IgG1 Fc glycosylation patterns are known to affect the effector function of IgG and are associated with aging. Here, we compare total and anti-spike (S) IgG1 glycosylation patterns following SARS-CoV-2 vaccination in DS and healthy controls (HC). Total and anti-Spike IgG1 Fc N-glycan glycoprofiles were measured in non-exposed adults with DS and controls before and after SARS-CoV-2 vaccination by liquid chromatography-mass spectrometry (LC-MS) of Fc glycopeptides. We recruited N = 44 patients and N = 40 controls. We confirmed IgG glycosylation patterns associated with aging in HC and showed premature aging in DS. In DS, we found decreased galactosylation (50.2% vs. 59.0%) and sialylation (6.7% vs. 8.5%) as well as increased fucosylation (97.0% vs. 94.6%) of total IgG. Both cohorts showed similar bisecting GlcNAc of total and anti-S IgG1 with age. In contrast, anti-S IgG1 of DS and HC showed highly comparable glycosylation profiles 28 days post vaccination. The IgG1 glycoprofile in DS exhibits strong premature aging. The combination of an early decrease in IgG1 Fc galactosylation and sialylation and increase in fucosylation is predicted to reduce complement activity and decrease FcγRIII binding and subsequent activation, respectively. The altered glycosylation patterns, combined with decreased antibody concentrations, help us understand the susceptibility to severe infections in DS. The effect of premature aging highlights the need for individuals with DS to receive tailored vaccines and/or vaccination schedules.

Parents of children with Down syndrome reflect on their postnatal diagnoses, 2003-2022.

A 2003 survey revealed the scope of mothers' dissatisfaction with their postnatal support following a diagnosis of Down syndrome (DS). Substantial proportions of mothers reported that providers conveyed diagnoses with pity, emphasized negative aspects of DS, and neglected to provide adequate materials explaining DS. This study follows up on the 2003 survey by assessing whether parents' experiences have improved. Four DS nonprofit organizations, which participated in the original study, distributed a mixed-methods survey to families who have had children with DS between 2003 and 2022. Quantitative analysis assessed correlations among responses and differences between the 2003 and 2022 survey groups. Open-ended responses were qualitatively analyzed. Compared to the 2003 findings, parents' perceptions of their postnatal care have not improved (N = 89). Parents are increasingly likely to report that their providers pitied them, omitted positive aspects of DS, and provided insufficient materials describing DS. Substantial proportions of parents reported fear (77%) and anxiety (79%), only 24% described receiving adequate explanatory materials, and parents were 45% likelier to report that physicians discussed negative aspects of DS than positive aspects. Qualitatively, substantial numbers of parents recounted insensitive conduct by providers. These results suggest that despite interventions, parents' experiences of postnatal diagnoses of DS have not improved over time. Certain provider behaviors-such as describing positive aspects of DS and providing comprehensive explanatory materials-can reduce fear and anxiety, pointing to directions for reform.