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Patient-derived brain organoids have emerged as a powerful model for investigating the mechanisms underlying neurological and psychiatric disorders. They provide novel insights into autism spectrum disorder (ASD), a heterogeneous neurodevelopmental condition whose underlying mechanisms remain poorly understood. Recent advancements in generating electrophysiological functional 3D brain organoids enable the study of molecular and network-level neuronal activity. Here, we aimed to characterize the neurophysiological underpinnings of ASD by comparing electrophysiological properties of brain organoids derived from eleven individuals diagnosed with autism spectrum disorder, 10 with monogenic syndromic ASD across five genetic subtypes, and 1 with idiopathic ASD, to organoids derived from 4 neurotypical control individuals. We identified distinct differences in baseline activity (resting state) and evoked responses (synaptic plasticity and network dynamics) across ASD subgroups. To comprehensively assess these differences, we applied dimensionality reduction (principal component analysis, PCA) to integrate multiple electrophysiological features into a unified framework. Our findings reveal subtype-specific neurophysiological alterations in ASD brain organoids, offering mechanistic insights into ASD heterogeneity and potential applications for early diagnostics, drug screening, and therapeutic development.

Background Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disorders. Children in foster care or domestically adopted are at greater risk for FASD. The aim of this study was to determine the prevalence or risk for FASD in a selected population of foster and adopted children. Methods Children between 2 and 12 years who were candidates for adoption in foster care were evaluated for clinical manifestations and historical features of fetal alcohol spectrum disorder based on established criteria for FASD. Results Of the 89 children evaluated, 18 had mothers with a confirmed history of alcohol consumption during pregnancy. Two children had fetal alcohol syndrome and one had partial fetal alcohol syndrome. In addition, five had alcohol-related neurodevelopmental disorder, one had alcohol-related birth defects, and a single child had manifestations of both. Of the 71 children in which fetal alcohol exposure could not be confirmed, many had manifestations that would have established a diagnosis of FASD were a history of maternal alcohol consumption obtained. Conclusions In a population of high-risk children seen in an adoption clinic, many had manifestations associated with FASD especially where prenatal alcohol exposure was established. The reported prevalence in this study is higher than that reported in our previous study of younger children. This is most likely due to the higher number of children diagnosed with alcohol-related neurodevelopmental disorders that typically manifest at an older age.

Objectives: Our aim was to determine the prevalence of middle ear disorders and associated risk factors that contribute to speech and language developmental delays in children with Down Syndrome. Methods: A prospective, cross-sectional study was conducted in 70 children with Down Syndrome between the ages of 1 and 18. Data, including complete physical and otorhinolaryngological examinations, hearing tests, and evaluation of speech and language skills, was compared to a historic typical control group. Results: Recurrent otitis media was significantly higher in the study group (56.5%) compared to the control (26%) (p = 0.05). The rate of conductive hearing loss was significantly higher in the study group (71.2%) compared to the control (14.9%) (p = 0.0001). Conductive hearing loss was statistically associated with delayed speech development (p = 0.046). Conclusions: Middle ear disorders are common in children with Down Syndrome and are associated with conductive hearing loss and delay of speech and language development. This study emphasizes the importance of routine examination of this population by an Otorhinolaryngologist and speech therapist.

Purpose This study aimed at reviewing our experience with infections caused by Fusobacterium in children. Methods A retrospective analysis of medical records of children admitted to Hadassah-Hebrew University Medical Center from 2000 to 2013, in whom Fusobacterium spp. was identified in any specimen. Results A total of 22 patients (males = 12) at a mean ± SE age of 5 ± 1 (range 1–17) years, were identified. The most common complication was abscess formation ( n  = 11, 50 %). Eight children (36.4 %) had intracranial complications, including brain abscess ( n  = 4), meningitis ( n  = 4) and cerebral sinus vein thrombosis (CSVT, n  = 5). Seventeen children (77 %) had bacteremia. Primary site of infection was otogenic ( n  = 9), oropharyngeal ( n  = 7), respiratory ( n  = 2), sinuses ( n  = 2), intra-abdominal ( n  = 1) and mucositis ( n  = 1). Fourteen cases were caused by Fusobacterium necrophorum , including four cases with CSVT, 7/8 cases of mastoiditis, four of them with subperiosteal abscess formation; all four cases with meningitis and two brain abscesses. Fifteen (68 %) patients required surgical intervention and 3 (14 %) received anti-coagulation therapy. Excluding one patient with overwhelming sepsis with fatal outcome, all patients recovered. Conclusions Fusobacterium infections in children can cause a diverse spectrum of disease and is associated with high rates of abscess formation and intracranial complications. Although Fusobacterium nucleatum is abundant in the oral cavity, F. necrophorum is the main pathogen that causes severe infections in healthy children.

Children with intellectual and developmental disabilities (IDD) are among the most disadvantaged population groups in receiving timely and appropriate access to health and preventative health care such as vaccinations. Little is known about how parents understand, experience, and strategize when deciding whether to vaccinate children. Our qualitative study involved four focus groups and two individual semi-structured interviews. Results were analyzed through thematic analysis. We integrated two main themes: (1) Parents weighed the same vaccination considerations for children with IDD and their siblings; (2) The health system played a key role in parents' vaccination decision-making process for children with IDD. Our research demonstrates that parents who gain trust in the health system will decide to vaccinate all their children, not only those with IDD. These parents need additional information and advice, easier access to vaccine services, and additional information and explanation to build a trusting relationship with the health system.

Aims. The transition of emerging adults with type 1 diabetes (T1D) from pediatric diabetes clinics to adult clinics between 18 and 21 years of age could result in decreased clinic attendance and thus worsen glycemic control. Our institutional policy offering surveillance till age 30 enabled us to evaluate clinic attendance without the confounding effect of transition. Our aim was to determine the association between glycemic control (HbA1c) and attendance rate. Methods. The medical records of 261 (54% males) young adult T1D patients (median age 22.9 years) were reviewed. Patients were stratified according to the attainment/nonattainment of glycemic targets (HbA1c ≤ 7% versus HbA1c > 7% (53 mmol/mol)). The attendance rate was calculated as the number of clinic visits/number of scheduled appointments. Results. Median annual number of scheduled visits was 3 (3, 4); attendance rate was 75% (53.6%, 100%). Seventy-four (28.4%) patients attained glycemic targets (median HbA1c 6.5% (48 mmol/mol) (6.3%, 6.8% (45.51 mmol/mol)); 187 (71.6%) patients had a median HbA1c of 7.8% (62 mmol/mol) (7.4%, 8.4% (57.68 mmol/mol)). The attainment of the treatment target was more prevalent in older patients (P=0.006), in male patients (P=0.007), and in patients with higher education (P=0.017). Higher attendance rate (β (2.483), P<0.001) and male gender (β (0.746), P=0.015) were associated with better metabolic control. Conclusions. In emerging adults with T1D during the ongoing stable phase of diabetes management, higher attendance rate, rather than absolute number of clinic visits, was associated with the attainment of glycemic targets.

To assess clinical variables, including early thyroid scintigraphy, in predicting the outcome (permanent vs transient) in term infants with congenital hypothyroidism (CH). In a retrospective study, 142 full-term infants with CH diagnosed between 2000 and 2012 were categorized into three groups: agenesis/ectopic thyroid and permanent CH; eutopic thyroid and permanent CH; and eutopic thyroid and transient CH. All underwent early thyroid scintigraphy and were under regular follow-up in our tertiary Pediatric Endocrine Institute. Thyroid scan showed agenesis/ectopic thyroid in 58 (41%) and eutopic thyroid in 84 (59%) infants. Imaging findings were similar in eutopic-permanent and eutopic-transient groups. At initial evaluation, TSH levels were higher in the agenesis/ectopic group than in the eutopic-permanent and eutopic-transient groups (71.5 ± 11.2 mIU/L vs 49.1 ± 27.9 mIU/L and 42.5 ± 29.1 mIU/L, respectively; P < 0.001). Higher l-T4 doses were required from the third month in the agenesis/ectopic than in the eutopic-permanent group (P < 0.001) and from the sixth month in the eutopic-permanent than in the eutopic-transient group (P < 0.01). Initial TSH >63.5 mU/L (P < 0.001) and l-T4 dose >4.6 μg/kg/d at age >6 months (P < 0.001) were found to be predictors for an agenesis/ectopic gland using receiver operating characteristic analysis, as was an l-T4 dose >2.2 μg/kg/d at age >6 months (P < 0.01) for permanent CH in patients with a eutopic gland. Although early thyroid scintigraphy is reliable in predicting permanent CH when detecting agenesis or ectopic gland, it cannot differentiate between permanent and transient CH in cases with a eutopic thyroid. Confirmatory TSH at diagnosis and the l-T4 dose through treatment may better distinguish between permanent and transient CH.

Background Optic pathway gliomas (OPGs) are classified by anatomic location and the association with neurofibromatosis type 1 (NF1). Children with OPGs face sequelae related to tumor location and treatment modalities. We assessed the prevalence of endocrine dysfunction in children with OPGs and compared outcomes between those with and without NF1. Methods We performed a retrospective medical record review of medical history, and clinical and laboratory data, of children diagnosed with OPGs ( n  = 59, 61% with NF1) during 1990–2020, followed at a tertiary endocrine clinic. Growth and puberty parameters and occurrence of endocrine dysfunction were evaluated. Results Isolated optic nerve involvement was higher among patients with than without NF1. Patients without NF1 were younger at OPG diagnosis and more often treated with debulking surgery or chemotherapy. At the last endocrine evaluation, patients without NF1 had comparable height SDS, higher BMI SDS, and a higher rate of endocrine complications (78.3% vs. 41.7%, p  = 0.006). Younger age at diagnosis, older age at last evaluation, and certain OPG locations were associated with increased endocrine disorder incidence. Conclusions Endocrine dysfunction was more common in patients without NF1; this may be related to younger age at presentation, tumor locations, a greater progressive rate, and more aggressive treatments. Impact The literature is sparse regarding sporadic OPGs, and the mean duration of follow-up is shorter than at our study. Our data show a higher rate of endocrine dysfunction in patients with OPGs than previously described. We also found a higher prevalence of endocrine dysfunctions among patients without compared to those with NF-1. A better understanding of the true prevalence of endocrine disabilities that may evolve along time can help in guiding physicians in the surveillance needed in patients with OPG.

Despite current knowledge of the minacious nature of tobacco, the premature deaths of more than 400,000 Americans each year from tobacco (5 million worldwide premature deaths), the publicized prestidigitation of tobacco apologists, and the widespread global medical philippics on Nicotiana tabacum, this Plutonian product continues to be grown and promoted with the aid of governments, societies, and the truculent tobacco enterprise. In its 31st publication on tobacco by the US Surgeon General's office, the government concludes that the threat on the health of youth and young adults remains real and unremitting. Indeed this plant turns our youth and young adults into helpless myrmidons who blindly smoke this chemical until they prematurely die years later from its relentless and well-known complications. In order to replace these large numbers of tabescent and dead people, younger humans are tragically and lubriciously targeted for tobacco addiction by a powerful, brummagem industry. Here, Tenenbaum and Merrick examine the tobacco product use among the youth of America.

The life expectancy of people with Down syndrome (DS) has increased significantly over the last few decades. Consequently, they and their families face new ageing-related challenges, the first signs of which appear in people with DS around the age of 30. The goal of this study was to explore the perceptions of adults with DS regarding their own and their parents’ ageing and end of life, and to examine the views and concerns of the parents regarding the ageing of their children with DS. The unique approach used in our study was to convene not only the ageing people with DS but also their parents, to discuss the subject together. A total of 33 people with DS participated in the study. Most of them were interviewed with one or two parents. Participants with DS found it difficult to talk about their own old age and addressed the issue mainly through the decline in the functioning of an older person they knew. The parents emphasised the changes needed in terms of the official regulations, so as to ensure that their children with DS age with dignity and quality of life. Our study identifies the increasingly pressing need to prepare adults with DS for their own and their parents’ ageing and end of life in a timely manner.