Autism AND girls

PURPOSE: Recent research has suggested that autism may present differently in girls compared to boys, encouraging the exploration of a sex-differential diagnostic criteria. Gender differences in diagnostic assessments have been shown on the ADOS-II, such that, on average, females score significantly lower than males on all scales and are less likely to show atypicality on most items related to social communicative difficulties. Yet, gender differences in the latent structure of instruments like the ADOS-II have not been examined systematically...

Layla is a 6.7-year-old girl diagnosed with attention-deficit/hyperactivity disorder (ADHD)-predominantly hyperactive/impulsive type-delayed adaptive skills, enuresis, unspecified malnutrition, and feeding difficulties. She presented to developmental-behavioral pediatrics (DBP) in January 2022 due to caregiver concerns for autism spectrum disorder (ASD).Layla lives in a polyamorous family with her biological mother and father, mother's partner whom Layla refers to as her uncle, and her 2 half-siblings. There is a maternal history of special education services, schizoaffective disorder, bipolar disorder, multiple sclerosis, Wolff-Parkinson-White syndrome, and ADHD...

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with unique differences in social interaction, communication, and a spectrum of behavioral characteristics. In the past, motor disturbance in individuals with ASD has not been considered a significant core deficit due to the predominant focus on sociability and communication issues. However, recent studies indicate that motor deficits are indeed associated with the fundamental symptoms of ASD. As there is limited research on the motor behavior of children with ASD, particularly in China, the objective of this study is to investigate the development of fundamental movement skills (FMS) in children with ASD and compare them to typically developing children...

Autism spectrum disorder (ASD) is a neurodevelopmental disorder typically diagnosed in children. Early detection of ASD, particularly in girls who are often diagnosed late, can aid long-term development for children. We aimed to develop machine learning models for predicting ASD diagnosis in children, both boys and girls, using child-mother linked electronic health records (EHRs) data from a large clinical research network. Model features were children and mothers' risk factors in EHRs, including maternal health factors...

This study explored the salient characteristics of transactions within parent-child engagement and investigated relationships between transactional characteristics and future identification of autism. The main aims of the study were to (1) examine if parents/children and their initial behaviors impact the length of transaction; (2) determine miscue differences among parents and children; and (3) determine if transactional characteristics are predictive of autism at preschool age.The study sample was drawn from extant data of a parent-mediated intervention for young children showing early sings of autism...

AIM: In autism spectrum disorder (ASD), abnormal sensory processing patterns are observed in various sensory modalities, including visual, auditory, touch, olfactory, taste, vestibular, and proprioceptive senses. Few studies have examined the relationship between sensory processing patterns and emotions, or their effects on daily life. We investigated the relationship between sensory processing patterns and emotional/behavioral problems in children with ASD. PARTICIPANTS AND METHODS: A retrospective chart review was conducted...

The mediator complex subunit 13 (MED13) gene is implicated in neurodevelopmental disorders including autism spectrum disorder (ASD), intellectual disability, and speech delay with varying severity and course. Additional, extra central nervous system, features include eye or vision problems, hypotonia, congenital heart abnormalities, and dysmorphisms. We describe a 7-year- and 4-month-old girl evaluated for ASD whose brain magnetic resonance imaging was suggestive of multiple cortical tubers. The exome sequencing (ES - trio analysis) uncovered a unique, de novo, frameshift variant in the MED13 gene (c...

In developed countries, vitamin A deficiency (VAD) remains rare but is a leading cause of global blindness. We describe the case of a 10-year-old girl with autism spectrum disorder (ASD) initially presenting mild VAD symptoms, escalating to severe photophobia and reluctance to leave a darkened room due to a self-restricted diet of fast-food french fries. A timely examination revealed severe VAD and vitamin A supplementation resolved her symptoms in three weeks. This case highlights the challenge of obtaining accurate patient history in ASD, emphasizing the need for routine dietary discussions and micronutrient testing, especially at ages nine and 13 when the United States Department of Agriculture (USDA) recommends increased vitamin A intake...

BACKGROUND: The results of disparate clinical studies indicate abnormally frequent cases of certain microorganisms in children with autism spectrum disorders (ASD). However, these data require clarification and systematization. The study aims to study the structure of the microbial profile in children with ASD and genetic folate cycle deficiency (GFCD) and consider differences in diagnostic approaches for identifying microorganisms of different types. METHODS: The study analyzed medical data from 240 children (187 boys and 63 girls) with GFCD aged 2 to 9 years...

INTRODUCTION: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by a higher prevalence in male than in female participants. Recent studies have hypothesized the presence of different phenotypes in male and female participants with ASD. The present study aims to assess possible sex differences in cognitive and adaptive functioning, symptomatology of ASD, and psychopathological comorbidities in a large sample of children and adolescents with ASD. METHODS: The study included a total of 2,146 children and adolescents diagnosed with ASD, comprising 1785 boys (mean age 7...

Biases exist in the diagnostic process for autism spectrum disorder (henceforth "autism"), which result in some girls and women being diagnosed later or missed entirely. Current diagnostic tools may not capture the full range of behavioural presentations of autism, leading to under-identification. This review explores why these biases may occur, and how diagnostic procedures could be adapted to better identify autistic girls and women. We recommend that diagnostic assessments are adjusted to capture a broader range of behavioural exemplars of autism; that camouflaging of autistic traits is taken into account; and that care is taken to ensure co-occurring mental health conditions do not overshadow autism diagnosis...

Autism is a neurodevelopmental condition, characterized by social communication alterations and restricted, repetitive behaviors. Typically diagnosed in early childhood, screening and diagnosis at a later age can be challenging, particularly in girls who exhibit a wider range of behaviors and characteristics. Our study set out to examine the effectiveness of the Hebrew translation of the Childhood Autism Spectrum Test, a parent report questionnaire, in identifying these diverse characteristics of autism within an Israeli sample of boys and girls...

Mutations in ADNP result in Helsmoortel-Van der Aa syndrome. Here, we describe the first de novo intronic deletion, affecting the splice-acceptor site of the first coding ADNP exon in a five-year-old girl with developmental delay and autism. Whereas exome sequencing failed to detect the non-coding deletion, genome-wide CpG methylation analysis revealed an episignature suggestive of a Helsmoortel-Van der Aa syndrome diagnosis. This diagnosis was further supported by PhenoScore, a novel facial recognition software package...

Intelligence quotient (IQ) and adaptive behavior are the influencing factors of autism spectrum disorder (ASD) in children entering mainstream schools. This study explored the association between parental education level, IQ, and adaptive behavior in ASD groups. A total of 257 school-age ASD children were enrolled in our study from January 2017 to June 2021. Their parents completed a standard demographic form, including age at autism diagnosis, gender, school placement, and parents' educational background. The Chinese version of the Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV) was completed by a certified assessor for each enrolled child...

BACKGROUND: Prior studies have focused on the effects of maternal autistic traits on children with autism, but little attention has been paid to the effects of maternal autistic traits on typically developing children, while the mechanisms of the effects are not clear. OBJECTIVE: Given that, a moderated mediation model was conducted to examine the association between maternal autistic traits and typically developing children's anxiety and the underlying mechanisms...

In many cognitive developmental studies, young children ( < 6 years) fail to understand that changing the appearance of a person, object, or animal does not change its underlying reality. They appear to believe that a cat wearing a dog mask is genuinely a dog (appearance/reality distinction) and that a boy wearing a dress is genuinely a girl (sex/gender constancy). These skills may be affected by various influences: testing methods, training on the constancy of biological traits, child's or sibling's diagnosis of gender dysphoria, and child's diagnosis of autism...

The time course of socio-communicative disturbances in children after posterior fossa tumor resection is variable in clinical reports, and its assessment may help to understand the role of the cerebellum in the pathogenesis of socio-communicative disorders and improve rehabilitation plans. We report the 3-year cognitive-behavioral follow-up of a female patient (LZ) who underwent surgical ablation of the vermis due to medulloblastoma at age 9. LZ developed a severe post-operative Cerebellar Cognitive Affective Syndrome (CCAS) with cognitive-executive dysfunctions and behavioral alterations resembling an Autism Spectrum Disorder (ASD)-like syndrome...

Executive dysfunction and other symptomatology could have links in preschoolers with autism spectrum disorder (ASD). This study contains three objectives: to explore the difference in executive function between preschoolers with ASD and typically developing individuals (TD), to investigate correlations between executive function and multiple domains of autism symptoms in preschoolers with ASD, and to examine the impact of executive function on symptoms of autism. Participants of this study included preschoolers (4-6 years) with ASD (24 boys, 20 girls) according to DSM-5-TR criteria and TD (24 boys, 20 girls)...

The biallelic variants of the POP1 gene are associated with the anauxetic dysplasia (AAD OMIM 607095), a rare skeletal dysplasia, characterized by prenatal rhizomelic shortening of limbs and generalized joint hypermobility. Affected individuals usually have normal neurodevelopmental milestones. Here we present three cases from the same family with likely pathogenic homozygous POP1 variant and a completely novel phenotype: a girl with global developmental delay and autism, microcephaly, peculiar dysmorphic features and multiple congenital anomalies...

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