Autism AND girls

Folate receptor autoantibody (FRAA) has caught increasing attention since its discovery in biological fluids of patients with autism spectrum disorder (ASD), but quantification and understanding of its function are still in their infancy. In this study, we aimed to quantify serum binding-FRAA and explore its relation with serum folate, vitamin B12 (VB12 ) and ferritin. We quantitated serum binding-FRAA in 132 ASD children and 132 typically-developing (TD) children, as well as serum levels of folate, VB12 and ferritin...

Coffin-Siris syndrome (CSS) is a rare genetic disorder and often co-occurs with attention-deficit hyperactivity disorder (ADHD) and autism spectrum (ASD). The present case study illustrates possible therapeutic interventions of these common psychiatric comorbidities taking into account the family interaction patterns. This can contribute to improve holistic management and overall level of functionality.

A girl in early adolescence with autism presented with 3 months of abdominal pain and 36 hours of anuria. She had recently received treatment for urinary tract infections, anxiety and menorrhagia (she had undergone menarche a few months earlier). Due to the pain, she had pulled out an incisor. Bladder scan showed 923 mL, creatinine was 829 mmol/L but urethral catheter insertion did not drain urine. An unenhanced CT scan revealed an absent left kidney, didelphys uterus and right-sided hydroureteronephrosis caused by haematocolpos in keeping with a diagnosis of OHVIRA syndrome and ureteric obstruction of a single kidney causing acute renal failure...

BACKGROUND: Kinetic sand is a type of play sand that is marketed to children above the age of three years old. It is comprised of sand coated with silicone oil, holding its shape when squeezed or pressed. It is described as a non-toxic, hypoallergenic, safe sand for arts and crafts, and is highly appealing due to its realistic appearance and odor. We present the first reported case of bowel obstruction due to small and large bowel intussusceptions caused by ingestion of kinetic sand leading to hospitalization for medical treatment in a young girl...

BACKGROUND: The purpose of this case study was to explore the effects of a school-based occupational therapy on children's attention, school adaptation, sensory processing, and motor function for children in special classes in elementary school in Korea. CASE PRESENTATION: The subjects of this study were a 7-year-old boy with autism spectrum disorder and a 9-year-old girl with intellectual disability. The school-based occupational therapy program consisted of 10 sessions and was conducted once a week for an hour and a half...

To explore screening tools for children with autism spectrum disorder (ASD), which are convenient for primary hospitals, it can provide basic data for formulating ASD prevention policies. This was a cross-sectional study by cluster sampling. Huyi District and Xincheng District were extracted for investigation in Xi'an City. From July 2021 to September 2022, all children aged from 3 months to 36 months who live in the two districts were subjected to primary screening. The child care physician used the routine screening tool "warning signs checklist for screening psychological, behavioral and developmental problems of children" and cartoon pictures of "early high-risk warning signs of autism", the children who were positive in the initial screening were referred to the district level maternal and child health hospital for re-screening, and those who were positive in the re-screening were referred to Xi 'an Children's Hospital for diagnosis...

Adolescence is a period of social, psychological, and physiological change, including the onset of puberty. Differential pubertal onset has been linked to a myriad of problems, including mental health problems. Therefore, we aim to investigate deviating pubertal development in autism, and whether this is more pronounced in girls than in boys. A total of 68 individuals (nASC  = 34, nCOM (comparisons) = 34) aged 12 to 16 years were administered test concerning pubertal development and mental health (i...

Regression is a key feature of neurodevelopmental disorders such as Autism Spectrum Disorder, Fragile X Syndrome and Rett syndrome (RTT). RTT is caused by mutations in the X-linked gene Methyl CpG-Binding Protein 2 (MECP2). It is characterized by an early period of typical development with subsequent regression of previously acquired motor and speech skills in girls. The syndromic phenotypes are individualistic and dynamic over time. Thus far, it has been difficult to capture these dynamics and syndromic heterogeneity in the preclinical Mecp2-heterozygous female mouse model (Het)...

DLG4-related synaptopathy is a neurodevelopmental disorder caused by a DLG4 variant. We identified a novel de novo heterozygous frameshift variant, NM_001321075.3(DLG4):c.554_563del, in a Japanese girl. Intellectual regression without motor delay was observed at 2 years of age, and she was diagnosed with autism spectrum disorder and attention-deficit/hyperactivity disorder. Recognizing the possibility of DLG4-related synaptopathy in patients with intellectual regression is important for ensuring an accurate diagnosis...

Proper cerebrovascular development and neurogliovascular unit assembly are essential for brain growth and function throughout life, ensuring the continuous supply of nutrients and oxygen. This involves crucial events during pre- and postnatal stages through key pathways, including vascular endothelial growth factor (VEGF) and Wnt signaling. These pathways are pivotal for brain vascular growth, expansion, and blood-brain barrier (BBB) maturation. Interestingly, during fetal and neonatal life, cerebrovascular formation coincides with the early peak activity of the hypothalamic-pituitary-gonadal axis, supporting the idea of sex hormonal influence on cerebrovascular development and barriergenesis...

Pilarowski-Bjornsson Syndrome (PBS) is a recently identified and rare genetic disorder. PBS is caused by missense variants in the CHD1 gene, a chromatin remodeler and helicase DNA-binding protein. In this report, we present the first case of PBS in Saudi Arabia. The patient exhibits a phenotype and genotype that are consistent with previously reported cases of PBS. Notably, this case is unique due to the coexisting presence of an absent, small, and homeotic disks protein 1 homolog like a histone lysine methyltransferase (ASH1L) variant and developmental dissociation...

Using questionnaires in research relies on the expectation that they measure the same things across different groups of individuals. If this is not true, then interpretations of results can be misleading when researchers compare responses across different groups of individuals or use in it a group that differs from that in which the questionnaire was developed. For the questionnaire we investigated, the Social Communication Questionnaire (SCQ), we found that parents of boys and girls responded to questionnaire items in largely the same way but that the SCQ measured traits and behaviors slightly differently depending on whether the children had autism...

Evidence of inequality in the utilisation of mental health care (MHC) by adolescents in Nordic countries is mixed. This study aims to investigate if there are socioeconomic differences in the utilisation of MHC, while accounting for adolescents' mental health status. We analysed a cohort of 3517 adolescents, followed from 7 to 9th grade (ages 13-16), to examine the association between parental socioeconomic position (SEP: education and disposable income), adolescents' estimated needs, and the utilisation of MHC (defined as visits to secondary psychiatric care or receipt of psychotropic medication)...

Difficulties with mental health and low levels of well-being are more common among autistic girls and women than non-autistic people, but we do not fully understand why. Research does not focus enough on what autistic girls and women could tell us about this. This review aims to summarise the studies where autistic girls and women explain things that affect their mental health and well-being to help us understand how to prevent these difficulties from developing. Three research databases were searched to find possibly relevant studies...

There is limited evidence on the associations of unintended pregnancy with autism spectrum disorders (ASD). This study aimed to examine this relationship and the modification of pre-conceptional and prenatal folic acid supplements. Six thousand and five toddlers aged 16 to 30 months from seven cities of six provinces in China were eligible for participation. Information on unintended pregnancy and folic acid supplements was obtained via questionnaires from caregivers of toddlers. The diagnosis of ASD was based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) and the Chinese version of the Childhood Autism Rating Scale (CARS)...

This narrative review charts my unconventional path to becoming a social neuroscientist and describes my research findings - some baffling, some serendipitous, some pivotal - in the field of neuropeptide biology. I trace my childhood as a Bell Labs "brat" to my adolescence as a soccer-playing party girl, to my early days as a graduate student, when I first encountered oxytocin and vasopressin. These two molecules instantly captivated - and held - my attention and imagination. For more than 25 years, a core goal of my research program has been to better understand how these neuropeptides regulate social functioning across a range of species (e...

This study examines the effectiveness of a program based on mental imagery on improvement working memory in children with Autism spectrum disorder (ASD) in inclusion classroom. 30 children (both sexes; 20 boys and 10 girls) with ASD aged 7-8 years old in primary one from school for inclusion were recruited. T-tests analyses were performed to determine whether there were differences between pretest and posttest measures for both the intervention and control groups. Quantitative data obtained at the beginning and end of the experimental process were analyzed in the SPSS 23...

Emerging evidence suggests that gender dysphoria or gender diversity (GD) intersects frequently with autism spectrum disorder or autism traits. However, the magnitude and interpretation of this link continue to be debated. Most child studies on this topic were performed in clinical populations, and little is known about the generalizability of this co-occurrence to the broader community, especially to non-Western samples. Also, little is known about whether specific subdomains of autism are more strongly associated with GD...

PURPOSE OF REVIEW: As the specificities of autistic women are increasingly recognized, this review aims to highlight emerging areas of research. These areas primarily focus on measurement bias of diagnostic tools, the physical and mental health of autistic women, and the unique aspects of the lives of autistic women, both personally and professionally across all life stages. RECENT FINDINGS: Conventional diagnostic tools struggle to capture the specificities of autism in females, but more sensitive instruments like the GQ-ASC (Girls' Questionnaire for Autism Spectrum Conditions), later also referred to as Q-ASC (Questionnaire for Autism Spectrum Conditions) in the scientific literature, show better performances...

BACKGROUND: The novel coronavirus disease (COVID-19) pandemic has no end in sight. Currently, the emphasis is on policies aimed at easing movement restrictions and maintaining socio-economic activities. However, infection control in psychiatric hospitals has been challenging. There have been reports on the impact on mental health and outpatient/inpatient treatment environments in the field of child psychiatry. An outbreak of COVID-19 was experienced in a child and adolescent psychiatric ward, and considering that there have been few similar reports, it was deemed meaningful to accumulate such experiences...