Cases Of Autism Research Articles

DISTRIBUTION OF AUTISTIC CHILDREN IN PONTIANAK, WEST KALIMANTAN PROVINCE, INDONESIA

The prevalence of autism spectrum disorder (ASD) data is still limited, especially in developing countries. Meanwhile, an increase in ASD children has occurred almost all over the world, including in Indonesia. The Ministry of Health of the Republic of Indonesia reported more than 5,500 cases of child development disorders – including autism disorders – that received services at primary health centres during 2020 – 2021. Data on the prevalence of autistic disorders have been estimated to increase by 500 per year. The Disability and Assessment Centre Service in Pontianak records an increase in children with autistic disorders every year. This study aims to map the spread of autism in Pontianak. This is an observational study to map the distribution of ASD children in Pontianak. The data sources are medical records from Pontianak Psychiatry Hospital and registration at Disability and Assessment Centre Services, recorded from 2015 to 2020. This study collected 147 cases of autism recorded at both service units. After screening for data duplication, 143 cases were used. Only 83 cases had a complete address that can determine coordinates. Using the determination of coordinates based on addresses obtained using GPS and spatial analysis using ArcGIS, the results showed that the distribution pattern of ASD children in Pontianak City was clustered. Most ASD children live in densely populated areas. Urban environments with high population density have problems that can affect the health of their residents. Further research is needed to determine the relationship between environmental factors and the incidence of autism in Pontianak.

Association of Risk Factors with At-Risk Cases of Autism

AbstractA neurological condition known as autism spectrum disorder (ASD) first manifests before the age of 3. Numerous factors may have an impact on the development of autism; however, its precise causes are yet unknown. The research aims to identify certain risk factors that associate with children at a higher risk of developing autism. This study is a descriptive analysis of 80 children who were identified as being at risk for autism and meeting the requirements of the Modified Checklist for Autism in Toddlers at the community health center. A semistructured proforma was used to collect the baseline data from the mother and the child. Through the use of a thoughtfully created checklist, each child enrolled in the study had a thorough history completed, including the suspected prenatal, intranatal, neonatal, and infant risk factors with the help of their mothers. Descriptive statistics with frequency percentages were adopted for the demographic data of the participants. To find the association between possible risk factors and at-risk cases of ASD, an independent t-test was used. Fisher's exact test and Pearson's chi-squared test (p = 0.05, confidence interval = 95%) were used to find how the risks (odds ratios) of the factors studied affect the incidence of ASD. It was discovered that prenatal risk factors, such as pregnancy-related infections and medication use, were statistically significantly linked to an increased risk for autism. Significant intranatal risk factors for autism risk included a breech presentation, cesarean section, forced labor, and resuscitation at birth. Similar to this, the neonatal risk factors included maternal hemorrhage, Rh or ABO incompatibility, birth injuries, and feeding problems. Poor socioeconomic status and seizures were the baby risk variables, both of which were statistically significant and linked to an increased chance of autism. The results of the study support an array of perinatal, intranatal, neonatal, and infant risk factors linked to the likelihood of developing autism.

Impact of consuming a Mediterranean-style diet during pregnancy on neurodevelopmental disabilities in offspring: results from the Boston Birth Cohort.

While consuming a Mediterranean-style diet (MSD) among pregnant women is expected to affect offspring neurodevelopment, the current evidence is limited. This prospective birth cohort study aimed to explore the association of maternal MSD with neurodevelopmental disabilities (NDD) in offspring, especially among children born to mothers with overweight or obesity (OWO) and/or diabetes mellitus (DM) since they have a higher risk for oxidative stress and immune/metabolic disturbances. We analyzed data from a subgroup of mother-child dyads enrolled in the Boston Birth Cohort. Maternal dietary information (via food frequency questionnaires, Food frequency questionnaires [FFQ]) and sociodemographic information were obtained via in-person interviews within 24 to 72 hours postpartum. Maternal clinical information and child diagnosis of NDD including autism, attention-deficit/hyperactivity disorder (ADHD), and other developmental disabilities (DD) were extracted from medical records. A Mediterranean-style diet score (MSDS) was calculated using the FFQ. The association of maternal MSDS with NDD, autism, ADHD, and other DD was evaluated using multivariable logistic regression models adjusted for pertinent covariates. This study included 3153 mother-child pairs, from which we identified diagnoses of 1362 (43.2%) NDD, including 123 (3.9%) case of autism, 445 (14.1%) ADHD, and 794 (25.2%) other DD. In the overall sample, women with a higher maternal MSDS (per standard deviation increase) were less likely to have offspring with NDD (adjusted odds ratio [OR]: 0.904, 95% confidence interval [CI]: 0.817-1.000; P value: 0.049). Using MSDS quintile 1 as the reference, being in the combined group of quintiles 3-5 was associated with a 26% lower likelihood of NDD (adjusted OR: 0.738, 95% CI: 0.572-0.951; P value: 0.019). When stratified by mothers with OWO/DM vs. without OWO/DM, the association between maternal MSDS and offspring NDD was greater in children born to mothers with OWO/DM. In this prospective birth cohort, a higher maternal MSDS was associated with a lower likelihood of NDD in the offspring. Furthermore, this association of maternal MSDS with offspring NDD was greater in children born to women with OWO/DM. More studies are needed to replicate the findings and further analyze NDD subgroups and explore underlying molecular pathways.

Gender bias in autism screening: measurement invariance of different model frameworks of the Autism Spectrum Quotient.

The Autism Spectrum Quotient is a popular autism screening tool recommended for identifying potential cases of autism. However, many women with autism demonstrate a different presentation of traits to those currently captured by screening measures and assessment methods, such as the Autism Spectrum Quotient. Different models of the Autism Spectrum Quotient have been proposed in the literature, utilising different items from the original 50-item scale. Within good-fitting models, the current study aimed to explore whether these items assess autistic traits similarly across men and women. Seventeen Autism Spectrum Quotient models were identified from the literature. Using the responses of a large sample of adults from the UK general population (5246 women, 1830 men), confirmatory factor analysis was used to evaluate the fit of each model. Measurement invariance with respect to gender, adjusting for age, was explored in the 11 model frameworks that were found to have satisfactory fit to our data. It emerged that only two items were gender invariant (non-biased), whereas for the remaining items, the probability of endorsement was influenced by gender. In particular, women had a higher probability of endorsing items relating to social skills and communication. If the items of the Autism Spectrum Quotient indeed reflect autism-related traits, those items should be rephrased to ensure they do not present a gender-related bias. This is vital for ensuring more timely diagnoses and support for all people with autism.

Autism: plants with neuro-psychopharmacotherapeutic potential

In recent years, there has been an increasing prevalence of cases of autism. There is no general cure for autism; however, there are situational treatments available. In this context, plants may be beneficial in suppressing the conditions that may arise in the disease. This study compiles plant species that have been reported in the literature as potential remedies for autism disorders. Furthermore, the general characteristics, usage areas, and biological activities of these plant species have been compiled. As a result of our research, it has been seen that plants can be used to combat many symptoms of autism. It is believed that plants may contribute to the improvement of the well-being of individuals with autism, as a result.

The extent of the impact of the surrounding environment and genetic factors on the pregnant mother and her child and its relationship to the child’s injury with autism disorder

Autism disorder is a complex condition that involves problems with communication and behavior and has no clear cause. but studies suggest that genes can work along with influences from the environment to influence development in ways that lead to autism. This study aimed to determine the prevalence of autism disorder in the city of Al-Bayda and the possible causes of its occurrence. The study population comprised 90 participants (69 male and 21 female, age ranges, 2-15 years) At baseline, autism disorder was more prevalent in males than female (77 % vs. 23%). Meanwhile, the prevalence of autism disorder increased with advanced the mother’s age (31%, 69%, among the mothers who were 19 to 35, 36 to 51 years of age, respectively), including the mother's conditions during pregnancy, where the percentage of autism baby deliver from mother suffered from a psychological condition was 52%, mothers constantly carried mobile phones 48%, and mother suffered from diseases during pregnancy 26%. Another cause of autism are environmental factors, as the percentage of children who watch TV constantly was 83%. Genetic factors play important rule to increase the chance of autism incidence, where 8% of autism cases came from parents of consanguinity with 33%.

Synaptic boutons are smaller in chandelier cell cartridges in autism.

Chandelier (Ch) cells are cortical interneurons with axon terminal structures known as cartridges that synapse on the axon initial segment of excitatory pyramidal neurons. Previous studies indicate that the number of Ch cells is decreased in autism, and that GABA receptors are decreased in the Ch cell synaptic target in the prefrontal cortex. To further identify Ch cell alterations, we examined whether the length of cartridges, and the number, density, and size of Ch cell synaptic boutons, differed in the prefrontal cortex of cases with autism versus control cases. We collected samples of postmortem human prefrontal cortex (Brodmann Area (BA) 9, 46, and 47) from 20 cases with autism and 20 age- and sex-matched control cases. Ch cells were labeled using an antibody against parvalbumin, a marker that labeles soma, cartridges, and synaptic boutons. We found no significant difference in the average length of cartridges, or in the total number or density of boutons in control subjects vs. subjects with autism. However, we found a significant decrease in the size of Ch cell boutons in those with autism. The reduced size of Ch cell boutons may result in reduced inhibitory signal transmission and impact the balance of excitation to inhibition in the prefrontal cortex in autism.

Особенности речи и устного дискурса при детском аутизме: описание случая спонтанного билингвизма. Часть I: Клинико-анамнестическое исследование

<p style="text-align: justify;">Impaired communication and speech behavior is considered to be one of the key manifestations of childhood autism. At the same time speech disorders in children with autism have not been sufficiently studied. In a meta-analysis of the modern studies of autism, we present different theories explaining relations between the childhood autism and im­pairments in verbal communication; among others, we focus mainly on semantic-pragmatic and structural-functional levels of speech; spontaneous bilingualism is also discussed. The study describes in detail a case of childhood autism in a Lithuanian-speaking boy D., followed for 6 years. The uniqueness of the given case is that at the very early age D. started demonstrating a preference of English for his native language. Moreover, he learned English exclusively on the basis of media resources found on the Internet by his parents (at his request) and himself. The paper (Part 1) includes detailed information on how verbal communication is formed and data of assessments carried out by a multi­disciplinary group of experts as well as several post-testings by a psychologist and speech-language pathologist.</p>

Association of Relative Telomere Length and LINE-1 Methylation with Autism but not with Severity

Autism is associated with genomic instability, which is regulated by telomere length (TL) and index of global methylation (LINE-1). This study will determine relative TL (RTL) and LINE-1 methylation percentage for 69 patients and 33 control subjects to evaluate their potential role as biomarkers for autism. The results displayed a significant decrease of both RTL and LINE-1 methylation in autistic cases relative to controls (P < 0.001). Analysis of receiver operating characteristics curve revealed that both of RTL and LINE-1 methylation percentage have the ability to serve as autism biomarkers (area under the curve = 0.817 and 0.889, respectively). The statistical analysis revealed positive correlation between the two biomarkers (correlation coefficient = 0.439 and P < 0.001).

Association of GABRG3, GABRB3, HTR2A gene variants with autism spectrum disorder

Autism spectrum disorder (ASD) is a neurodevelopmental and neurobehavioral disorder characterized by impaired social communication, repetitive and restricted patterns of behavior, activity, or interest, and altered emotional processing. Reported prevalence is 4 times higher in men and it has increased in recent years. Immunological, environmental, epigenetic, and genetic factors play a role in the pathophysiology of autism. Many neurochemical pathways and neuroanatomical events are effective in determining the disease. It is still unclear how the main symptoms of autism occur because of this complex and heterogeneous situation. In this study, we focused on gamma amino butyric acid (GABA) and serotonin, which are thought to contribute to the etiology of autism; it is aimed to elucidate the mechanism of the disease by investigating variant changes in the GABA receptor subunit genes GABRB3, GABRG3 and the HTR2A gene, which encodes one of the serotonin receptors.200 patients with ASD between the ages of 3–9 and 100 healthy volunteers were included in the study. Genomic DNA isolation was performed from peripheral blood samples taken from volunteers. Genotyping was performed using the RFLP method with PCR specific for specific variants. Data were analyzed with SPSS v25.0 program.According to the data obtained in our study; In terms of HTR2A (rs6313 T102C) genotypes, the homozygous C genotype carrying frequency in the patient group and the homozygous T genotype carrying frequency in the GABRG3 (rs140679 C/T) genotypes were found to be significantly higher in the patient group compared to the control group (*p: 0.0001, p: 0.0001). It was determined that the frequency of individuals with homozygous genotype was significantly higher in the patient group compared to the control group and having homozygous genotypes increased the disease risk approximately 1.8 times. In terms of GABRB3 (rs2081648 T/C) genotypes, it was determined that there was no statistically significant difference in the frequency of carrying homozygous C genotype in the patient group compared to the control group (p: 0.36).According to the results of our study, we think that the HTR2A (rs6313 T102C) polymorphism is effective in modulating the empathic and autistic characteristics of individuals, and that the HTR2A (rs6313 T102C) polymorphism is more distributed in the post-synaptic membranes in individuals with a higher number of C alleles. We believe that this situation can be attributed to the spontaneous stimulatory distribution of the HTR2A gene in the postsynaptic membranes because of T102C transformation.In genetically based autism cases, carrying the point mutation in the rs6313 variant of the HTR2A gene and the C allele and the point mutation in the rs140679 variant of the GABRG3 gene and accordingly carrying the T allele provide a predisposition to the disease.

Fragile X syndrome: clinical presentation, pathology and treatment

Fragile X syndrome is the monogenetic condition that produces more cases of autism and intellectual disability. The repetition of CGG triplets (> 200) and their methylation entail the silencing of the FMR1 gene. The FMRP protein (product of the FMR1 gene) interacts with ribosomes by controlling the translation of specific messengers, and its loss causes alterations in synaptic connectivity. Screening for fragile X syndrome is performed by polymerase chain reaction. Current recommendation of the American Academy of Pediatrics is to test individuals with intellectual disability, global developmental retardation or with a family history of presence of the mutation or pre-mutation. Hispanic countries such as Colombia, Chile and Spain report high prevalence of fragile X syndrome and have created fragile X national associations or corporations that seek to bring patients closer to available diagnostic and treatment networks.

Summative content analysis of the recommendations from Project ECHO Ontario Autism.

Practitioners report a lack of knowledge and confidence in treating autistic children, resulting in unmet healthcare needs. The Extension of Community Healthcare Outcomes (ECHO) Autism model addresses this through discussion of participant-generated cases, helping physicians provide best-practice care through co-created recommendations. Recommendations stemming from ECHO cases have yet to be characterized and may help guide the future care of autistic children. Our objective was to characterize and categorize case discussion recommendations from Project ECHO Ontario Autism to better identify gaps in clinician knowledge. We conducted a summative content analysis of all ECHO Ontario Autism case recommendations to identify categories of recommendations and their frequencies. Two researchers independently coded recommendations from five ECHO cases to develop the coding guide. They then each independently coded all remaining cases and recommendations from three cycles of ECHO held between October 2018 to July 2021, meeting regularly with the ECHO lead to consolidate the codes. A recommendation could be identified with more than one code if it pertained to multiple aspects of autism care. Categories from the various codes were identified and the frequency of each code was calculated. Of the 422 recommendations stemming from 62 cases, we identified 55 codes across ten broad categories. Categories included accessing community resources (n = 224), referrals to allied health and other providers (n = 202), ongoing autism care (n = 169), co-occurring mental and physical health conditions (n = 168), resources and tools for further learning (n = 153), physician to provide education and coaching to families (n = 150), promoting parent and family wellness (n = 104), supporting community autism diagnosis (n = 97), promoting patient empowerment and autonomy (n = 87), and COVID-19 (n = 26). This is the first time that recommendations from ECHO Autism have been characterized and grouped into categories. Our results show that advice for autism identification and management spans many different facets of community-based care. Specific attention should be paid to providing continued access to education about autism, streamlining referrals to allied health providers, and a greater focus on patient- and family-centered care. Physicians should have continued access to autism education to help fill knowledge gaps and to facilitate families' service navigation.

THE EFFECTIVENESS OF AUTISM CHARACTER STIMULATION ROOM AT AUTISM SERVICE CENTRE BATAM THROUGH BEHAVIORAL ARCHITECTURE

Autism or commonly referred to as autism spectrum disorder often occurs in children at an early age. Not only that, the symptoms of autism result in the failure of the brain's nervous system and sensory bodies as well as the intellectual decline in individuals who experience it. Sensory malfunctions in the body eventually form 2 characters with different responses to stimuli in a certain environment, namely, hyposensitivity and hypersensitivity. 1 in 500 children in Indonesia is known to have this disorder, so it becomes an issue that is not only developing in the country but has an effect on the world. With a significant increase in the number of autism cases, the need for space will increase. Architects as a profession involved in design play an important role in creating a conducive space for children with autism. However, the space must be adjusted based on the characteristics of autism, so that it can function well for them. This research was conducted by evaluating spaces that have different levels of stimulation in the Batam City Autism Service Center, then developing them. This study also uses a behavioral architectural approach by reviewing the characteristics of people with autism, so that the room can provide comfort for them. The research method used is a qualitative-descriptive form and analyzes the room based on existing criteria. The results of the research are a multifunctional low-stimulus room and a high-stimulus room that can adapt based on variations in activity.

Immunotherapy In Autism Spectrum Disorder; A Case Series

IntroductionResearches has shown that a subset of the autism spectrum disorder (ASD) population presents with immune dysregulation. Based upon the immunological abnormalities, various treatment modalities have been applied to children with ASD. One immunomodulatory treatment that has been studied in ASD is intravenous immunoglobulins (IVIG).ObjectivesThis report is based upon two hypotheses: autism etiology may be closely related to neuroinflammation; and, an effective treatment should restore the individual’s comminication skills. In this report, we present two cases who were diagnosed with ASD and received IVIG treatment.MethodsCase A is a 5-year-old female patient who was diagnosed with ASD at the age of 3. The second case, B is a 9 -year-old male patient who is a 7th grade student and was also diagnosed with ASD at the age of 3. The first patient’s autism symptoms was noticed by her family at the age of 2. Although she had the ability to coordinate eye contact, understood simple commands, she was observed to lose all her acquired developmental skills one by one at around 18-24 months. Towards the age of 3, stereotypical movements such as turning around and flapping wings, started. Similarly, the second patient’s acquired skills were lost around at the age of 2-3, after having recurrent infections. Based on deficits in social‐emotional reciprocity, deficits in nonverbal communicative behaviors used for social interaction and restricted/repetitive patterns of behavior, both patients were diagnosed with ASD. Considering that autoimmune mechanisms may have been affected in ASD, IVIG treatment was initiated at 1 g/kg/month. Case A received IVIG once in a month, total 5 infusions had been applied. Case B received total 12 infusions with the same protocol. Treatment response was assessed with the Childhood Autism Rating Scale (CARS).ResultsIn these two ASD cases which were treated with IVIG ,a subjective partial reduction in autism symptoms and an objective decrease in CARS scores were detected. Current evidence suggests that there are various factors contributing to the development of autism and different combinations of these aspects give rise to different variations of some ASD subtypes. Recent studies in this field indicate a possible connection between the immune system impairments and ASD. This report, therefore, provide support for the notion that at least a subset of children with ASD might have immune abnormalities and may respond to the immune modulating effect of IVIG therapy.ConclusionsAlthough, autoimmune or inflammatory etiologies may not explain the majority of cases of autism, it might at least be useful to understand some. Further studies with larger number of patients should be conducted about the use of IVIG in selected patients with ASD.Disclosure of InterestNone Declared

Ayurvedic Intervention for Autism Spectrum Disorder - A Case Study

Autism spectrum disorder (ASD) is a developmental disability that can cause significant social, communication and behavioral challenges. It is a lifelong neurodevelopmental condition with its onset before the age of three years. It is characterized by abnormalities in communication, impaired social function, repetitive behaviors and restricted interests. Western medicine and research have seemingly stalled in respect to the management of autism however early intervention and behavioral therapies have shown improvement to some extent. The present study describes the case of childhood autism visited at Government Ayurvedic Medical College and Hospital, Akhnoor, Jammu. Child was diagnosed clinically and has been treated with Ayurvedic interventions, Panchakarma therapies and diet modification. Child has got relief symptomatically within one week of therapy started. Case study briefly explained Ayurvedic concepts regarding childhood autism and Ayurvedic treatment protocols in autistic disorder. Keywords: Autism Spectrum Disorder, hyperactivity, Ayurveda, Management, Prevention, Pinda Sweda, Abhyanga, Pichu, Nasya, Uttar Basti.

Web-based autism screening using facial images and convolutional neural network

Developmental disabilities such as autism spectrum disorder (ASD) affect a person’s ability to interact socially, and communicate effectively and also cause behavioral issues. Children with ASD cannot be cured but they might benefit from early intervention to enhance their cognitive abilities, favorite their growth , and affect their lives and families in a positive way. Multiple standard ASD screening tools are used such as the autism diagnostic observational schedule (ADOS) and the autism diagnostic interview (ADI), which are known to be lengthy and challenging without specialist training to administrate and score. The process of ASD assessment can be time-consuming and costly, and the growing number of autistic cases worldwide indicates an urgent need for a quick, simple, and dependable self-administered autism screening tool that may be used if a child displays some of the common signs of autism, and to ensure whether or not he should seek professional full ASD diagnosis. According to a number of studies, ASD individuals exhibit facial phenotypes that are distinct from those of normally developing children. Furthermore, convolutional neural networks (CNN) have mostly found utility in image classification applications due to their high classification accuracy. Using facial images, a dense convolutional network (Densenet) model, and cloud-based advantages, in this paper we proposed a practical, fast, and easy-to-use ASD online screening approach. Easily available through the internet via the link “https://asd-detector.herokuapp.com/”, our suggested web-based screening instrument may be a practical and trustworthy tool for practitioners in their ASD diagnostic procedures with a 98 percent testing dataset classification accuracy.

PTCHD1 Binds Cholesterol but Not Sonic Hedgehog, Suggesting a Distinct Cellular Function.

Deleterious mutations in the X-linked Patched domain-containing 1 (PTCHD1) gene may account for up to 1% of autism cases. Despite this, the PTCHD1 protein remains poorly understood. Structural similarities to Patched family proteins point to a role in sterol transport, but this hypothesis has not been verified experimentally. Additionally, PTCHD1 has been suggested to be involved in Hedgehog signalling, but thus far, the experimental results have been conflicting. To enable a variety of biochemical and structural experiments, we developed a method for expressing PTCHD1 in Spodoptera frugiperda cells, solubilising it in glycol-diosgenin, and purifying it to homogeneity. In vitro and in silico experiments show that PTCHD1 function is not interchangeable with Patched 1 (PTCH1) in canonical Hedgehog signalling, since it does not repress Smoothened in Ptch1-/- mouse embryonic fibroblasts and does not bind Sonic Hedgehog. However, we found that PTCHD1 binds cholesterol similarly to PTCH1. Furthermore, we identified 13 PTCHD1-specific protein interactors through co-immunoprecipitation and demonstrated a link to cell stress responses and RNA stress granule formation. Thus, our results support the notion that despite structural similarities to other Patched family proteins, PTCHD1 may have a distinct cellular function.

Can oral microbiome dysbiosis affect the behavior of children with Autism Spectrum Disorders (ASD)? : Narrative review

Background: Autism spectrum disorders (ASD) are complex developmental disorders characterised by several levels of social interaction and communication difficulties. The prevalence of children with ASD worldwide is around 1:160, and the number of cases of autism has increased significantly. The oral microbiome is a diverse microbial biofilm with the second most complex microbiota in the human body after the gut. Several factors, such as lifestyle and health, can influence the oral microbiome’s composition and metabolism. Children with ASD generally have poorer oral hygiene and suffer from periodontal disease and dental caries more than typical children; this is associated with behavioural disturbances, such as communication limitations, motoric limitations, eating habits and the side effects of drugs. Continued oral microbiome dysbiosis can lead to gut microbiome dysbiosis. There are two hypotheses for the transmission of oral bacteria to the gut, via the hematogenous route or via the enteral route. Gut microbiome dysbiosis may regulate social behaviour, such as emotional dissonance and anxiety, through blood-brain-barrier and gut-brain-axis pathways. When there is inflammation of the periodontal tissue in ASD children, it can cause lipopolysaccharide (LPS) leakage to the blood-brain barrier (BBB) that can cause an inflammatory response and disrupt metabolic activity in the central nervous system. Oral dysbiosis, which continues into gut dysbiosis, can affect behaviour through the gut-brain axis. This review aims to determine the impact of oral microbiome dysbiosis on the behaviour of children with ASD.

Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review.

Introduction: Luscan-Lumish syndrome (LLS) is currently recognized as a rarely-observed condition featured with overgrowth, macrocephaly, obesity, type I Chiari malformation, and linguistic retardation. So far, there have been only a few LLS cases registered worldwide, but with none of them reported from China. To acquire a deeper understanding on the clinical and genetic features of this disease, a Chinese boy with LLS caused by a heterozygous variant in SETD2 gene was investigated in the present study. Methods: The patient was clinically examined and the medical history of his family was collected. Genetic testing was performed to determine the genetic etiology. Results: The proband was a boy aged 5-year-7-month-old, who was referred to our hospital due to "being a slow learner in kindergarten". The child had a history of delayed motor and language development in comparison to his peers. After admission, physical examination revealed tall stature and macrocephaly as the major manifestation, in addition to a relatively lower rating in intelligence assessment as well as abnormal MRI images showing a slightly shorter corpus callosum accompanied by a mildly thinner corpus callosum body. Whole exome sequencing (WES) revealed a heterozygous c.2514_2516delTAG (p.Ser838del) variant in SETD2 gene, which was subsequently identified as a novel de novo variant. According to the standardized genetic variant classification published by the American College of Medical Genetics and Genomics (ACMG), the variant, with a pathogenicity analysis result indicating PS2 + PM2_Supporting + PM4, was determined to be likely pathogenic. Through literature review, the clinical phenotypes of the 15 LLS cases were summarized, including 8 cases of overgrowth (53%), 13 cases of macrocephaly (87%), 11 cases of developmental delay (73%), 8 cases of autism (53%), and 7 cases of special facial features (47%). Besides, abnormal craniocerebral MRI findings were noticed in 7 cases. Despite that the mutation sites of the 15 patients varied from case to case, they showed a uniformly distributed pattern throughout the whole SETD2 gene, including 5 missense mutations, 5 frameshift mutations and 5 non-sense mutations. Conclusion: LLS, not having been recognized till recent years, is identified as an autosomal dominant syndrome triggered by SETD2 gene mutation. As the first report of LLS in China, the case in our study was proved to be associated with a unique type of SETD2 gene mutation that has never been reported previously, which is believed to enrich the mutation spectrum of SETD2 gene and also, deepening the clinicians' understanding on the disease.

Hemolytic crisis in 8-year-old known case of glucose 6 phosphate dehydrogenase deficiency secondary to Heliotropium curassavicum ingestion: a case report

Background: The genus Heliotropium encompasses plants that exhibit a variety of pharmacological properties. Even though this plant has many therapeutic uses, some portions of salt heliotrope contain high concentrations of pyrrolizidine alkaloids (PA), which have been extremely hazardous substances that can seriously impair the liver of both humans and animals. Human poisoning cases are extremely uncommon. Symptoms of poisoning, which often include hemolytic jaundice, photosensitization, and eventually death. Case Presentation: An 8-year-old boy, with a known case of autism and glucose-6-phosphate dehydrogenase (G6PD) deficiency, presented to our institute complaining of vomiting and diarrhea after ingestion of a part of a leaf in the farm (Heliotropium Curassavicum); blood workup was ordered and it showed hemolytic anemia crisis and was managed by hydration and blood transfusion. Conclusion: This case adds to the literature by documenting an acute hemolytic anemia crisis due to the ingestion of H. curassavicum in an 8-year-old child who has been diagnosed with G6PD deficiency.