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A recent study conducted by researchers at Sapienza University of Rome explores the co-occurrence of 22q11.2 deletion syndrome (22q11.2DS) and epithelial basement membrane dystrophy (EBMD). 22q11.2DS is a genetic disorder that can affect various systems in the body, while EBMD is a corneal condition. The study presents a case of a 34-year-old female with 22q11.2DS who exhibited corneal manifestations consistent with EBMD. The researchers suggest that further investigation is needed to understand the potential genetic or molecular links between these conditions. [Extracted from the article]

A recent report from Parma, Italy discusses the case of a male patient with Childhood Onset Schizophrenia and 22q11.2 Deletion Syndrome. The patient exhibited impairments in language, learning, and social abilities, as well as comorbid anxiety disorders. Neuroradiological findings revealed white matter hyperintensities, a dysmorphic corpus callosum, and Hippocampal Malrotation. This case highlights the importance of considering 22q11.2 Deletion Syndrome in cases of Childhood Onset Schizophrenia with structural brain alterations. The researchers recommend performing a chromosomal microarray to screen for 22q11.2 Deletion Syndrome in patients with Hippocampal Malrotation and Childhood Onset Schizophrenia. [Extracted from the article]

A recent study conducted by researchers at the University of New Orleans explores the relationship between catechol-o-methyltransferase (COMT) allelic variation and anxiety levels in individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS). The study found that individuals with the higher activity COMTval allele had higher anxiety levels compared to those with the low activity COMTmet allele. However, anxiety was not correlated with salivary cortisol or alpha-amylase levels. The research suggests that COMT allelic variation may contribute to differences in acute stress reactivity but not slower stress reactivity in individuals with 22q11.2DS. [Extracted from the article]

A recent study conducted at Copenhagen University Hospital in Denmark explored the cognitive impairments and additional genetic load in individuals with 22q11.2 deletion syndrome (22q11.2DS), a condition associated with high psychiatric morbidity. The researchers examined a nationwide biobank cohort of 183 individuals with 22q11.2DS and found that approximately 35% of them had a history of one or more psychiatric diagnoses. Through cognitive evaluation and assessment of psychiatric symptoms, the researchers identified two subgroups within the cohort based on cognitive functioning levels. The low functioning group displayed lower cognitive functioning scores and higher negative symptom scores, while the high functioning group had a lower rate of current psychiatric disorders. The study suggests that cognitive functioning may provide valuable information about psychiatric risk. [Extracted from the article]

A study conducted at Phoenix Children's Hospital compared the effectiveness of palatoplasty and pharyngoplasty procedures in resolving hypernasality in patients with 22q11.2 deletion syndrome. The study found that pharyngoplasty procedures were significantly more effective than palatoplasty procedures in resolving hypernasality. The researchers suggested that this difference in effectiveness may be due to anatomical or physiological differences between the two procedures. This research has been peer-reviewed and published in The Cleft Palate-Craniofacial Journal. [Extracted from the article]

A study conducted by researchers at Xiamen University in China aimed to assess the effectiveness of CNV-seq and WES in detecting the genetic cause of congenital heart disease (CHD) in prenatal diagnoses. The study found that the combined use of CNV-seq and WES provided a comprehensive approach to prenatal genetic testing for CHDs, resulting in an increased detection rate of causal genetic variants associated with CHDs. The research highlights the importance of integrating advanced genomic technologies into routine prenatal diagnostics to enhance diagnostic yields and inform clinical management and parental decision-making. [Extracted from the article]

A recent study conducted at Boston Children's Hospital explored the use of multidisciplinary velopharyngeal dysfunction (VPD) assessment in diagnosing 22q11.2 deletion syndrome (22q) in children. The study found that VPD evaluations, particularly the presence of non-cleft velopharyngeal insufficiency (VPI), played a crucial role in identifying undiagnosed cases of 22q. The research emphasizes the importance of clinicians, including plastic surgeons, otolaryngologists, and speech-language pathologists, maintaining a high degree of suspicion for 22q in children presenting with VPI without a clear cause. Multidisciplinary approaches are essential for the early diagnosis and management of this complex condition. [Extracted from the article]

A recent study conducted by the Department of Health of Moscow focused on patients with DiGeorge syndrome, a genetic condition characterized by immunodeficiency. The study aimed to compare the subpopulations of T and B lymphocytes in patients with and without autoimmune complications and identify prognostic signs that precede the development of complications. The researchers found that patients with autoimmune complications had a decrease in certain subpopulations of T and B lymphocytes, such as CD45RA+ naive T cells and memory B cells. These findings suggest that regular immunophenotyping, particularly of these subpopulations, can help predict autoimmune complications in patients with DiGeorge syndrome. [Extracted from the article]

A recent study published in JCEM Case Reports discusses the challenges and implications of a missed diagnosis of DiGeorge syndrome in a 38-year-old woman. DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a microdeletion on chromosome 22. The patient in this case had a history of primary hypothyroidism, hypocalcemia, cleft palate, abnormal facial features, and recurrent infections. Genetic testing revealed a heterozygous whole gene deletion of the TBX1 gene and a 2.6-Mb microdeleted segment of the 22q11.2 region. The study highlights the difficulties in diagnosing this syndrome and the importance of early detection. [Extracted from the article]

A recent study conducted by Takeda Pharmaceutical Co. Ltd. in Japan aimed to estimate the prevalence and characteristics of chronic hypoparathyroidism in the country. Chronic hypoparathyroidism is a rare endocrine disorder characterized by low serum calcium and elevated serum phosphorus levels. The study found that the prevalence of chronic hypoparathyroidism in Japan was 38.3 per 100,000 individuals, with postoperative causes being more common than nonoperative causes. The study also highlighted the heterogenous causes of chronic hypoparathyroidism, with thyroid malignancy and 22q11.2 deletion syndrome being the most common postoperative and nonoperative causes, respectively. The study suggests that there are approximately 48,500 patients with chronic hypoparathyroidism in Japan. [Extracted from the article]

A study conducted by researchers at Monash University Malaysia focused on the TBX1 gene and its role in 22q11.2 deletion syndrome (22q11.2DS), a genetic disorder with various manifestations. The researchers used in-silico analysis to identify potentially harmful genetic variations within the TBX1 gene and assess their impact on 22q11.2DS. The study found several single nucleotide polymorphisms (SNPs) that could potentially affect protein function and stability, indicating their potential as therapeutic targets for personalized treatment approaches. This research provides a basis for further experimental studies in understanding and treating 22q11.2DS. [Extracted from the article]

A recent study conducted by Harvard Medical School compared the outcomes of pharyngeal flap surgery in children with 22q11.2 deletion syndrome and nonsyndromic cleft lip and palate. The study found that both groups showed improvement in speech and nasal regurgitation after surgery. However, children with 22q11.2 deletion syndrome were less likely to achieve normal velopharyngeal function in the long term compared to those with nonsyndromic cleft lip and palate. The study highlights the challenges in managing velopharyngeal insufficiency in children with 22q11.2 deletion syndrome and provides valuable insights for clinicians. [Extracted from the article]

A recent study conducted by researchers at the State University of Campinas (UNICAMP) in Brazil explores the healthcare challenges faced by individuals with 22q11.2 Deletion Syndrome (22q11.2 DS) and their families. Despite being a rare condition, 22q11.2 DS is the most common microdeletion syndrome in humans. The study found that individuals with 22q11.2 DS often receive incomplete clinical management even after diagnosis, and caregivers face difficulties in accessing healthcare services, which impacts their quality of life. The research aims to bridge the gap in understanding the relationship between healthcare access, quality of life, and caring for individuals with 22q11.2 DS, and calls for more inclusive healthcare policies and interventions to support affected families. [Extracted from the article]

A recent study conducted by researchers at the University of Pennsylvania explores the relationship between minor physical anomalies (MPAs) and psychosis spectrum disorders (PS). The study collected 2D digital photographs from individuals with 22q11.2 deletion syndrome (22q11DS), PS, and typically developing individuals. Computer-vision techniques were used to analyze the photographs and identify facial patterns associated with these disorders. The findings suggest that craniofacial dysmorphology may be a potential marker for identifying at-risk youths earlier in their development. The study provides valuable insights into the overlap between 22q11DS and PS and highlights the importance of early identification and intervention. [Extracted from the article]

Researchers from the University Federico II in Naples, Italy conducted a study on velopharyngeal insufficiency (VPI) in individuals with 22q11.2 deletion syndrome (22q11.2DS). The study aimed to examine the function of the velopharyngeal sphincter in these patients and establish correlations between aerodynamic and perceptual measures of nasality. The researchers found that there were differences in airflow patterns and perceptual measures between the 22q11.2DS group and the control group. They concluded that this aerodynamic study identified qualitative and quantitative dysfunctions in velopharyngeal function in individuals with 22q11.2DS. [Extracted from the article]

A recent study conducted by researchers at the Universidade Federal de Sao Paulo explored the altered expression of miRNAs in individuals with 22q11.2 deletion syndrome (22q11.2DS). The syndrome is characterized by a microdeletion that affects the DGCR8 gene, which plays a crucial role in miRNA biogenesis. The researchers used next-generation sequencing to analyze the miRNA profiles in the peripheral blood of 12 individuals with 22q11.2DS and compared them to 12 healthy controls. They found that miR-185-5p, located in the 22q11.2 region, showed downregulation in patients, while miR-1304-3p, located outside the 22q11.2 region, was upregulated. The study suggests that the altered expression of miR-185-5p may be related to the 22q11.2 deletion and DGCR8 haploinsufficiency, while the higher expression of miR-1304-3p may be associated with individual genomic variances in the Brazilian population. [Extracted from the article]

A recent study conducted by researchers at Sapienza University of Rome explored the efficacy and safety of antipsychotic treatment in patients with DiGeorge Syndrome (also known as 22q11.2 deletion syndrome) and treatment-resistant psychosis. The study observed three clinical cases and found that a low dose of clozapine (<150 mg/day) was effective in improving symptoms and remained stable at 12 months. The research highlights the need for further investigation into the safety and tolerability of antipsychotics in individuals with DiGeorge Syndrome. This study was published in the International Clinical Psychopharmacology journal. [Extracted from the article]

A recent report from Emory University discusses research on 22q11.2 deletion syndrome (22q11DS), a genetic condition associated with an increased risk of psychosis and other psychiatric illnesses. The study focused on the acoustic startle response (ASR) in individuals with 22q11DS, which is thought to be a marker of psychosis risk. The findings revealed that individuals with 22q11DS had reduced amplitude and slowed latency of the ASR compared to healthy individuals. These results suggest reduced central nervous system responsiveness and are consistent with cognitive impairments observed in individuals with 22q11DS. Further research is needed to understand the connections between neurotransmission dysfunction, psychophysiological responsiveness, and cognitive impairment in this population. [Extracted from the article]

A recent study conducted by the University of Geneva examined the clinical course of individuals with 22q11.2 deletion syndrome (22q11.2DS) who developed psychotic disorders. The study followed 118 individuals from several years before the onset of psychosis to several years after. The most common psychiatric disorders observed were anxiety disorder and attention deficit hyperactivity disorder. Schizophrenia was the most common psychotic disorder, and individuals with 22q11.2DS experienced cognitive and functional impairments. The study concluded that 22q11.2DS psychosis is similar to non-22q11.2DS psychosis in terms of symptoms and impairments. [Extracted from the article]

A recent study conducted at the University of Geneva in Switzerland explored the use of transcranial alternating current stimulation (tACS) to enhance working memory skills in youths with 22q11.2 deletion syndrome, a condition associated with cognitive impairments and an increased risk for psychosis. The study involved 34 participants who received either sham or tACS treatment over three consecutive days. The findings revealed that tACS was safe and well-tolerated, and participants who received tACS showed significantly increased accuracy in a visual working memory task compared to the control group. The study supports the potential application of repeated sessions of brain stimulation in individuals with 22q11.2 deletion syndrome. [Extracted from the article]

A recent study investigated the role of DGCR8, a gene involved in miRNA production, in the 22q11.2 deletion syndrome (22qDS). The researchers created two human pluripotent cell models with a single functional DGCR8 allele to understand its impact on the disease. They found that DGCR8 haploinsufficiency led to increased apoptosis, as well as self-renewal and differentiation defects in both naive and primed states. The expression of primate-specific miRNAs and a primate-specific retroelement essential for pluripotency maintenance were also affected. The study suggests that DGCR8 is haploinsufficient in humans and that miRNAs and transposable elements may have co-evolved in primates to maintain stem cell identity. [Extracted from the article]

New research conducted at the University of Belgrade in Serbia has found that children with 22q11.2 deletion syndrome (22q11.2DS) have impaired articulation skills and expressive language abilities. However, the study did not observe weaker receptive language skills and immediate verbal memory compared to healthy controls. The researchers recommend that children with this microdeletion should be included in a program of early stimulation of speech-language development immediately after diagnosis is established. This research provides valuable insights into the neurodevelopmental disorders associated with 22q11.2DS and highlights the importance of early intervention for affected children. [Extracted from the article]

A recent study examined the effects of the 22q11.2 deletion syndrome, a genetic risk factor for schizophrenia, on cognitive impairments and hippocampal neural dynamics in a mouse model. The study found that inhibitory interneurons in the hippocampus of mutant mice exhibited reduced spatial information during random foraging and aberrant responses to reward locations during reward learning tasks. The researchers also observed task-dependent changes in the activity of multiple GABAergic subtypes, indicating a disorganized microcircuit functional connectivity in the mutant mice. This study provides new insights into how schizophrenia-risk mutations affect local-circuit interactions in the mouse hippocampus during learning. [Extracted from the article]

A recent study led by researchers at UC Davis Health has identified unique biomarkers that could help identify patients with the rare genetic condition 22q11.2 deletion syndrome who may be more likely to develop schizophrenia or other psychiatric conditions. People with 22q are missing a piece of chromosome 22, which can lead to a variety of health challenges including heart issues, psychosis, ADHD, and autism. The study focused on the likelihood of patients with 22q developing psychosis, and the researchers found specific metabolites, taurine and arachidonic acid, that could serve as markers for the likelihood of psychosis. The researchers plan to confirm and expand on these findings in a larger study to improve early detection and develop effective treatments. [Extracted from the article]

A recent study conducted by researchers at the University of New Orleans has found that children and adolescents with chromosome 22q11.2 deletion syndrome (22q11.2DS) have impaired ability to process and understand emotions in others. The study compared structural connectivity in individuals with 22q11.2DS to healthy controls and found that those with 22q11.2DS had poorer social skills and difficulty recognizing facial emotions. The researchers also discovered higher fractional anisotropic diffusion in certain brain pathways in individuals with 22q11.2DS, which partially mediated the relationship between the syndrome and social skills and emotion recognition. These findings provide insight into the neural origins of social skills deficits in 22q11.2DS and may serve as a biomarker for future psychiatric problems. [Extracted from the article]

A recent study conducted by investigators at Stanford University focused on the genetic risk factor for psychosis known as 22q11.2 deletion syndrome (22q11.2DS). The researchers used a large multi-cohort dataset to identify functional brain signatures associated with 22q11.2DS and its associated psychosis. They found that individuals with 22q11.2DS exhibit distinct functional brain organization compared to controls, and the brain signatures of 22q11.2DS-associated psychosis overlap with those of idiopathic early psychosis. These findings provide valuable insights into the neurobiological underpinnings of psychosis and its progression. [Extracted from the article]

A recent study investigated the interaction between hearing impairment and genetic vulnerability to psychiatric disease in a mouse model of 22q11.2 Deletion Syndrome. The researchers measured brain function using cortical auditory evoked potentials (AEPs) and found abnormal measures of central auditory gain or adaptation in the mice with the deletion, regardless of hearing impairment. They also identified potential biomarkers for auditory brain dysfunction in psychiatric disease. This study provides insights into the relationship between hearing impairment and psychiatric disorders in individuals with the 22q11.2 deletion. [Extracted from the article]

A recent preprint abstract discusses the unique functional neuroimaging signatures of genetic high risk for psychosis (22q11.2 Deletion Syndrome) compared to clinical high risk for psychosis (CHR). The study analyzed two large cohorts using resting-state functional MRI and found that individuals with 22q11.2 Deletion Syndrome exhibited disruptions in brain signal variability and multi-scale functional connectivity, while CHR individuals showed alterations in local connectivity. The results suggest distinct functional brain alterations between these two high-risk populations. It is important to note that this preprint has not yet undergone peer review. [Extracted from the article]

A recent study conducted by investigators at the University of Pennsylvania has found that enlarged cavum septum pellucidum (CSP) and hypoplastic thymus may serve as markers for 22q11.2 deletion syndrome. The study compared fetuses with 22q11.2 deletion syndrome to fetuses with conotruncal cardiac anomalies and normal microarray, as well as structurally normal fetuses with normal microarray. The results showed that an enlarged CSP and hypoplastic/absent thymus were associated with 22q11.2 deletion syndrome, suggesting that these markers may be part of the fetal phenotype of the syndrome. However, these markers were not found in normal controls or fetuses with conotruncal defects and normal microarrays. [Extracted from the article]

A recent study conducted by the University of Naples Federico II in Italy explores the genetic and epigenetic factors involved in 22q11.2 deletion syndrome (22q11.2DS). This syndrome is characterized by a range of abnormalities affecting various systems in the body. While a 3 Mb region of hemizygous deletion in chromosome 22q11.2 is present in approximately 85% of patients, this alone does not fully explain the clinical phenotype and variability observed. Additional mutations in genes outside the deleted region, as well as alterations in miRNA expression patterns and methylation epi-signatures, contribute to the manifestation of the syndrome. The study emphasizes the complex network of interactions between deleted genes and altered epigenetic regulation in understanding the pathogenesis of 22q11.2DS. [Extracted from the article]

A recent study compared the daily-life social interactions of individuals with Autism Spectrum Disorder (ASD) and 22q11.2 deletion syndrome (22q11DS) to those of healthy controls. The study used Ecological Momentary Assessment (EMA) to gather information about social interactions. The results showed that individuals with ASD and 22q11DS spent less time with familiar individuals, such as friends, and more time with people they live with compared to healthy controls. However, individuals with ASD reported more intense feelings of exclusion and being judged during social interactions compared to individuals with 22q11DS and healthy controls. This study provides new insights into the social functioning profiles of individuals with ASD and 22q11DS and suggests different therapeutic targets for each condition. [Extracted from the article]

A study examined the social skills of individuals with 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD) using role-plays as a direct assessment. The study involved 53 individuals with 22q11DS, 34 individuals with ASD, and 64 typically developing peers aged 12-30 years. Both clinical groups showed impaired social skills compared to the typically developing group, but they displayed distinct social profiles. The findings suggest the importance of tailored interventions to address the specific difficulties of each clinical population and the need to combine different measures to obtain a comprehensive understanding of social skills. [Extracted from the article]

A recent study compared levels of loneliness in youths with autism spectrum disorders (ASD), 22q11.2 deletion syndrome (22q11DS), and typically developing youths (TD). The study found that all three groups experienced a similar level of state loneliness, with greater loneliness when alone compared to being in a social context. Both individuals with ASD and 22q11DS showed a greater affinity toward being alone than TD, but only individuals with ASD reported greater trait loneliness. Emotional reactivity to loneliness differed between the clinical groups, and self-reported mental health was associated with loneliness in the clinical groups. These findings provide new insights into the experience of loneliness in clinical populations and suggest the need for individualized clinical care. [Extracted from the article]

A recent study conducted by researchers at the University of Geneva examined social skills in individuals with 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). The study involved 53 individuals with 22q11DS, 34 individuals with ASD, and 64 typically developing peers aged 12-30 years. The researchers used role-plays, parent-reported questionnaires, and clinical interviews to assess social skills, functioning, and anxiety. The study found that both clinical groups showed impaired social skills compared to typically developing individuals, but distinct social profiles emerged between the groups. The researchers concluded that tailored interventions are needed to target the specific difficulties of each clinical population and that combining different measures is important as they may not provide the same outcome. [Extracted from the article]

A recent preprint study explores the role of the T-BOX transcription factor TBX1 in the development of DiGeorge syndrome (DGS), a condition associated with congenital heart disease and other abnormalities. The study used a cellular model and a mouse model of DGS to investigate the effects of TBX1 deficiency on gene expression and collagen accumulation. The researchers found that loss of TBX1 led to upregulation of certain extracellular matrix-related genes, including collagen genes. Additionally, they discovered that early prenatal treatment with Minoxidil, a lysyl hydroxylase inhibitor, improved the cardiac phenotype in mutant fetuses. However, further research and peer review are needed to validate these findings. [Extracted from the article]

A new report from Syracuse University discusses research findings on mental health in mothers of children with 22q11.2 Deletion Syndrome (22q11DS). The study aimed to investigate coping methods, protective factors, and mental health in this population. The research found that a high percentage of mothers screened positive for elevated levels of general stress, hazardous alcohol consumption, traumatic stress, anxiety, and depression. The study suggests that reducing maladaptive coping methods may be a promising intervention for improving mental health in these mothers. [Extracted from the article]

A recent preprint abstract discusses the brain-related phenotypes observed in 22q11.2 deletion syndrome (22q11.2DS) and the potential role of changes in brain metabolism. The study used two mouse models of 22q11.2DS to investigate brain metabolism through various methods. The researchers found that Tbx1 mutants had alterations in specific brain metabolites and a more general metabolomic imbalance. They also found evidence of a response to vitamin B12 treatment, which partially rescued some of the behavioral anomalies observed in the mutants. The study suggests that alterations in glutamine-glutamate metabolism and fatty acid metabolism are key components of the metabolic phenotype in these mutants. [Extracted from the article]

A recent report from Bucharest, Romania discusses the findings of a study on microdeletion and microduplication syndromes (MMSs) observed over a three-year period. MMSs are characterized by chromosomal deletions or duplications of less than five megabases and can present a range of symptoms, including intellectual disability and developmental delays. The study focuses on the genetic foundations and prenatal ultrasound findings of these syndromes, with an emphasis on cases associated with intellectual disability. The researchers highlight the importance of prenatal diagnosis in detecting MMSs early and making informed decisions about pregnancy and medical care. The article aims to contribute valuable data to the understanding of MMSs and raise awareness among the medical community. [Extracted from the article]

A study conducted by the Shahid Beheshti University of Medical Sciences in Tehran, Iran, examined the impact of palatoplasty on the quality of life and speech outcomes in children with velocardiofacial syndrome (VCFS). The study included 20 patients with VCFS who underwent speech assessment before and after palatoplasty surgery. The results showed significant improvement in the health-related quality of life (HRQoL) scores, particularly in the emotional and social dimensions, as well as improvement in speech intelligibility and hypernasality. The study suggests that suitable palatal interventions can benefit children with VCFS by improving their speech ability and overall quality of life. [Extracted from the article]

A recent report from the University of California explores the genetic risk associated with neuropsychiatric disorders, specifically focusing on the 22q11.2 microdeletion. The study investigates the role of thalamic dysfunction in the emergence of abnormalities related to this genetic risk. Using human pluripotent stem cell-derived organoids, the researchers found widespread transcriptional dysregulation in thalamic neurons and glia, including elevated expression of FOXP2. The study suggests that early stages of thalamic development are dysregulated in individuals with the 22q11.2 microdeletion, contributing to neural phenotypes in 22q11.2 deletion syndrome. [Extracted from the article]

A recent preprint abstract suggests that mitochondrial dysfunction in the blood-brain barrier (BBB) may contribute to neurological disorders. The study focused on the 22q11.2 deletion syndrome (22qDS), a condition associated with a higher risk of neuropsychiatric disease. Researchers found mitochondrial impairment in BBB endothelial cells from both human induced pluripotent stem cell (iPSC)-derived models and a mouse model of 22qDS. Treatment to improve mitochondrial function was shown to enhance BBB function and correct social memory deficits in the mouse model. These findings suggest a potential link between mitochondrial dysfunction in the BBB, barrier integrity, and behavior in 22qDS. However, it is important to note that this preprint has not yet undergone peer review. [Extracted from the article]

A recent preprint abstract discusses the brain-related phenotypes observed in 22q11.2 deletion syndrome (22q11.2DS) and the potential role of changes in brain metabolism. The study used two mouse models of 22q11.2DS to investigate brain metabolism through various methods. The researchers found that Tbx1 mutants had alterations in specific brain metabolites and a more general metabolomic imbalance. They also found evidence of a response to vitamin B12 treatment, which partially rescued some of the behavioral anomalies observed in the mutants. The study suggests that alterations in glutamine-glutamate metabolism and fatty acid metabolism may be key components of the metabolic phenotype in these mutants. [Extracted from the article]

Researchers at the University of British Columbia have conducted a study on 22q11.2 deletion syndrome (22q11DS), a common microdeletion in humans. The study found that individuals with 22q11DS exhibit structural brain abnormalities, including reductions in gray matter volume (GMV), which are associated with cognitive impairment and psychosis. The researchers used a novel source-based morphometry (SBM) method called SS-Detect to identify 12 structural brain patterns (SBPs) that distinguish individuals with 22q11DS from healthy controls. The findings suggest that the structural anomalies in 22q11DS occur in distinct anatomical patterns, rather than a diffuse global process, and may be related to disturbances in early neurodevelopment. [Extracted from the article]

This article discusses the impact of 22q11.2 deletion syndrome on the functioning of children from a biopsychosocial perspective. The study used a questionnaire based on the International Classification of Functioning, Disability and Health (ICF) to assess the children's functioning. The results showed that children with 22q11.2 deletion syndrome experience intellectual, cognitive, and speech impairments. The study also found that the children faced limitations in activities and participation, particularly in nonverbal communication, handling stress, and social interaction. The article suggests that a checklist based on the ICF can help incorporate a biopsychosocial approach to understanding the syndrome. [Extracted from the article]

Researchers from Azienda Ospedaliero-Universitaria Pisana in Pisa, Italy, have conducted a study on patients with 22q11.2 deletion syndrome (22q11.2 DS) to identify the immunophenotypic characteristics associated with different disease expressions. The study included 34 patients divided into three groups based on their clinical phenotype. The findings revealed distinct immunophenotypic features in patients with an infectious phenotype and immune dysregulation. This study contributes to the understanding of the immune status variability in patients with 22q11.2 DS and different phenotypic expressions. [Extracted from the article]

A new study from the Albert Einstein College of Medicine explores the impact of high-risk prenatal screening results for 22q11.2 deletion syndrome (22q11.2DS) on obstetric and neonatal management. The study found that high-risk participants had more prenatal diagnostic testing and fetal echocardiography compared to the low-risk cohort. High-risk newborns without prenatal diagnostic testing had higher rates of neonatal genetic testing and other 22q11.2DS-specific evaluations. However, more than 50% of high-risk infants were discharged without genetic testing, suggesting missed opportunities to improve outcomes for affected individuals. [Extracted from the article]

A study conducted at the Medical University of South Carolina examined the outcomes of gastrostomy tube placement and tracheostomy in infants undergoing truncus arteriosus repair. The study found that gastrostomy tube placement was performed in 11.9% of the infants, while tracheostomy was performed in 3.4% of the infants. Factors associated with gastrostomy tube placement included DiGeorge syndrome, congenital airway anomaly, and failure to thrive, while factors associated with tracheostomy included congenital airway anomaly and truncal valve surgery. The study also found that tracheostomy was associated with higher mortality rates and longer postoperative length of stay. [Extracted from the article]

A report from the Poznan University of Medical Sciences in Poland discusses the experiences and needs of parents caring for a child with 22q11.2 deletion syndrome. The study found that raising a child with this syndrome has significant psychosocial and financial impacts on caregivers. The research involved an online survey completed by 44 caregivers, mostly mothers, who reported challenges in obtaining a correct diagnosis and relied heavily on the internet for information. The study highlights the burden faced by caregivers and the lack of support from the healthcare system. [Extracted from the article]

A report from the University of Central Florida discusses a study comparing surgical and speech outcomes of two treatments for velopharyngeal insufficiency in patients with 22q11.2 deletion syndrome. The study found that while the posterior pharyngeal flap had a slightly higher rate of postoperative complications, it resulted in a lower percentage of patients needing additional surgery compared to sphincter pharyngoplasty. The most common postoperative complication was obstructive sleep apnea. The researchers concluded that there is a need for standardization of speech assessments and outcomes to optimize surgical management of velopharyngeal insufficiency in individuals with 22q11.2 deletion syndrome. [Extracted from the article]