Autism diagnosis

BACKGROUND: Maternal preeclampsia is associated with a risk of autism spectrum disorders (ASD) in offspring. However, it is unknown whether the increased ASD risk associated with preeclampsia is due to preeclampsia onset or clinical management of preeclampsia after onset, as clinical expectant management of preeclampsia allows pregnant women with this complication to remain pregnant for potentially weeks depending on the onset and severity. Identifying the risk associated with preeclampsia onset and exposure provides evidence to support the care of high-risk pregnancies and reduce adverse effects on offspring...

IMPORTANCE: Autism spectrum disorder (ASD) is a neurodevelopmental disorder more prevalent in males than in females. The cause of ASD is largely genetic, but the association of genetics with the skewed sex ratio is not yet understood. To our knowledge, no large population-based study has provided estimates of heritability by sex. OBJECTIVE: To estimate the sex-specific heritability of ASD. DESIGN, SETTING, AND PARTICIPANTS: This was a population-based, retrospective analysis using national health registers of nontwin siblings and cousins from Sweden born between January 1, 1985, and December 31, 1998, with follow-up to 19 years of age...

Depression is a disorder with variable presentation. Selecting treatments and dose-finding is, therefore, challenging and time-consuming. In addition, novel antidepressants such as ketamine have sparse optimization evidence. Insights obtained from metabolomics may improve the management of patients. The objective of this study was to determine whether compounds in the cerebrospinal fluid (CSF) metabolome correlate with scores on questionnaires and response to medication. We performed a retrospective pilot study to evaluate phenotypic and metabolomic variability in patients with treatment-resistant depression using multivariate data compression algorithms...

Autism spectrum disorder (ASD) is a neurodevelopmental illness characterized by impaired social interaction and restricted repetitive behaviors or interests. The rising prevalence of ASD diagnosis has triggered a surge in research into investigating the underlying neuropathological processes and finding new therapeutic approaches. ASD is characterized by neuroinflammation and dysregulation of neuro-immune cross-talk, which suggests that stem cell treatment might be a potential therapeutic approach. The beneficial and restorative effects of stem cells are mainly due to their paracrine activity, in which stem cells generate and release extracellular vesicles such as exosomes and distinct secreted non-vesicle soluble proteins, including, growth factors, chemokines, cytokines, and immunomodulatory molecules referred to as the Secretome...

In recent decades, the use of assisted reproductive technology (ART) has increased rapidly. To assess the relationship between ART and autism diagnosis, we linked California birth records from 2000 through 2016 with contemporaneous records from the National ART Surveillance System (NASS) and autism caseload records from California's Department of Developmental Services from 2000 through November 2019. All 95,149 birth records that were successfully linked to a NASS record, indicating an ART birth, were matched 1:1 using propensity scores to non-ART births...

BACKGROUND: Tourette syndrome (TS) and autism spectrum disorder (ASD) are two neurodevelopmental disorders with an onset before the age of 18 years. TS patients frequently reported atypical sensory phenomena (SP). Sensory processing abnormalities are also particularly frequent in ASD individuals. OBJECTIVES: Considering the higher rate of atypical sensory behaviours in both neurodevelopmental disorders, in the present study we analysed sensory experiences in patients with ASD and in patients with TS...

BACKGROUND: Instrumented measurements of postural control provide a more accurate insight into the motor development of children with autism. This study aimed to identify postural control deficits in autistic children during quiet standing before and after transient locomotor task. It was hypothesized that the parameters that characterize the trajectory of center of foot pressure (COP) displacement would be higher in autistic children compared to typically developing children. METHODS: Sixteen autistic children aged 6-10 but without a comorbidity diagnosis, were enrolled in the study group...

Interpersonal communication facilitates symptom measures of autistic sociability to enhance clinical decision-making in identifying children with autism spectrum disorder (ASD). Traditional methods are carried out by clinical practitioners with assessment scales, which are subjective to quantify. Recent studies employ engineering technologies to analyze children's behaviors with quantitative indicators, but these methods only generate specific rule-driven indicators that are not adaptable to diverse interaction scenarios...

BACKGROUND: The Modified Checklist for Autism in Toddlers (M-CHAT) is a common pediatric screening tool with mixed accuracy findings. Prior evidence supports M-CHAT screening for developmental concerns, especially in toddlers born preterm. This study examined M-CHAT accuracy in a large, nationwide sample. METHODS: 3393 participants from the Environmental influences on Child Health Outcomes (ECHO) program were included. Harmonized M-CHAT (M-CHAT-H) results were compared with parent-reported autism diagnosis and autism-related characteristics to assess accuracy for term and preterm children, together and separately...

Autism spectrum disorder (ASD) is a multifactorial, pervasive neurodevelopmental disorder affecting 1 in 36 children in the United States. Given the rising prevalence and significant economic and social costs associated with ASD, it is critical that continued efforts be made towards better understanding the underlying etiology as well as management of the condition and its commonly associated comorbidities. It has been estimated that upwards of 70% of children with ASD have a positive history of gastrointestinal (GI) symptoms...

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: The Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC:0-5TM ) is widely used in many Western countries. For Russian specialists, such classification represents a relatively new tool for the comprehensive diagnosis of mental disorders in children from birth to the five-year-old threshold. The purpose for presenting this case study report is to showcase the practical application of the DC:0-5TM . AIM: This study aims to illustrate the diagnostic process according to the DC:0-5TM criteria using the example of a specific clinical case report involving the collaborative efforts of two specialists: a child psychiatrist and a clinical child psychologist...

BACKGROUND: Although the causes of attention-deficit/hyperactivity disorder (ADHD) and autism have not been identified, exposure to endocrine-disrupting chemicals, such as polybrominated biphenyl (PBB), during fetal development and early life has been suspected to impact neurological development. This study aims to investigate the association between prenatal and early life exposure to PBB and the development of ADHD and autism later in life. METHODS: Data from the Michigan PBB Registry, a cohort of Michigan residents who had been exposed to PBB in a mass contamination event in 1973, was leveraged for this nested case-control analysis among two distinct samples: (1) Those who self-reported ADHD or autism diagnosis, and (2) mothers who reported their child's ADHD or autism diagnosis...

OBJECTIVE: To investigate the alterations in cortical-cerebellar circuits and assess their diagnostic potential in preschool children with autism spectrum disorder using multimodal magnetic resonance imaging. METHODS: We utilized diffusion basis spectrum imaging approaches, namely DBSI_20 and DBSI_combine, alongside 3D structural imaging to examine 31 autism spectrum disorder diagnosed patients and 30 healthy controls. The participants' brains were segmented into 120 anatomical regions for this analysis, and a multimodal strategy was adopted to assess the brain networks using a multi-kernel support vector machine for classification...

Catatonia is a severe neuropsychiatric syndrome that affects emotion, speech, movement and complex behaviour. It can occur in a wide range of psychiatric and neurological conditions, including depression, mania, schizophrenia, autism, autoimmune encephalitis (particularly NMDAR encephalitis), systemic lupus erythematosus, thyroid disease, epilepsy and medication-induced and -withdrawal states. This concise guideline highlights key recommendations from the British Association for Psychopharmacology (BAP) Catatonia Guideline, published in April 2023...

The Thai Diagnostic Autism Scale (TDAS) was developed for autism spectrum disorder (ASD) diagnosis in Thai children aged 1-5 years. Previous studies have indicated its good performance; however, additional health resources and healthcare providers are necessary for evaluation. Therefore, this study aimed to assess the cost-effectiveness of TDAS compared to clinical diagnosis (ClinDx) for ASD diagnosis in Thai children aged 1-5 years from a societal perspective. The analysis employed a hybrid model consisting of a decision tree model for a diagnostic phase with a state transition model for a follow-up phase...

PURPOSE: Diagnostic accuracy of autism spectrum disorder (ASD) is crucial to track and characterize ASD, as well as to guide appropriate interventions at the individual level. However, under-diagnosis, over-diagnosis, and misdiagnosis of ASD are still prevalent. METHODS: We describe 232 children (MAge = 10.71 years; 19% female) with community-based diagnoses of ASD referred for research participation. Extensive assessment procedures were employed to confirm ASD diagnosis before study inclusion...

PURPOSE: Adolescents and adults with Down syndrome are noted to display symptoms and behaviors consistent with a diagnosis of Obsessive Compulsive Disorder. While evidenced-based interventions, including psychopharmacology and therapeutic interventions including exposure and response prevention, exist and effectively treat obsessive-compulsive symptoms in neurotypical populations, less is known about effective treatments for similar presentations in persons with Down syndrome. METHODS: A scoping rapid review was conducted in April 2023 to determine what treatments are being used to target obsessive-compulsive symptoms and related behaviors in adolescents and adults with Down syndrome, the quality of those treatments, and their alignment with current evidenced-based interventions...

Antipsychotic prescribing trends vary internationally, albeit off-label use remains high (i.e., target symptoms). We aim to describe antipsychotic use, target conditions, target symptoms and dosing regimens in children and adolescents in Ireland. We used a sampled cohort from a national audit of children and adolescents attending mental health services with predefined inclusion and exclusion criteria from Jul-2021 to Dec-2021 who were prescribed at least one psychotropic medication and up to and including 17-years of age (n = 3528)...

Nick is a 5-year-old boy who began displaying self-stimulating behaviors and decreased social interactions shortly before turning 3 years. At the age of 3.5 years, he was diagnosed with autism spectrum disorder by a local developmental-behavioral pediatrician. His parents recall that the physician described Nick to be "high functioning" and encouraged them to expect that he would attend college and live independently as an adult. Upon receiving the diagnosis, intervention was initiated using an applied behavioral analysis (ABA) approach...