Autism Spectrum Disorder Symptom Severity Research Articles

The effect of anxiety and autism symptom severity on restricted and repetitive behaviors over time in children with fragile X syndrome

BackgroundRestricted and repetitive behaviors (RRBs) are highly prevalent and reduce function in individuals with fragile X syndrome (FXS). As transdiagnostic features of intellectual disability, elevated rates of RRBs in FXS could represent various underlying known co-occurring conditions in FXS such as anxiety or autism spectrum disorder (ASD), yet this distinction has not been investigated. Further, delineating whether RRBs are more indicative of anxiety or ASD in FXS may clarify phenotypic profiles within FXS and improve differential assessment.MethodsWe longitudinally examined the potentially independent or multiplicative effect of ASD and anxiety symptom severity on RRBs in 60 children with FXS. Anxiety was measured using the Child Behavior Checklist (CBCL), ASD severity was measured using the Childhood Autism Rating Scale (CARS), and RRBs were measured using the Repetitive Behavior Scale – Revised (RBS-R). We estimated a series of moderated regression models with anxiety and ASD symptoms at the initial assessment (Time 1) as predictors of RRBs at the outcome assessment two years later (Time 2), along with an anxiety-by-ASD interaction term to determine the potential multiplicative effect of these co-occurring conditions on RRBs.ResultsResults identified a significant interaction between ASD and anxiety symptom severity at the initial assessment that predicted elevated sensory-motor RRBs two years later. Increased sensory-motor RRBs were predicted by elevated ASD symptoms only when anxiety symptom severity was low. Likewise, increased sensory-motor RRBs were predicted by elevated anxiety symptoms only when ASD symptom severity was low. Interestingly, this relationship was isolated to Sensory-Motor RRBs, with evidence that it could also apply to total RRBs.ConclusionsFindings suggest that ASD and anxiety exert independent and differential effects on Sensory-Motor RRBs when at high severity levels and a multiplicative effect when at moderate levels, which has important implications for early and targeted interventions.

Prenatal exposure to hypoxic risk conditions in autistic and neurotypical youth: Associated ventricular differences, sleep disturbance, and sensory processing.

There is a growing body of research that suggests conditions during the period of pregnancy and birth can affect how autism spectrum disorder (ASD) presents itself. This study aimed to investigate the incidence of oxygen deprivation during this period known as prenatal and perinatal hypoxic risk (HR) conditions in ASD compared with neurotypical control (NTC) youth. We also examined ventricular morphology variations associated with HR exposure, and to evaluate associations with clinical symptoms. Results from a cohort of 104 youth revealed a higher incidence of exposure to prenatal hypoxic conditions in the ASD group. Additionally, ASD individuals with prenatal hypoxic exposure (ASD + HR) demonstrated larger third ventricle volumes compared with both ASD and NTC individuals without such exposure (ASD-HR and NTC-HR, respectively). Furthermore, associations were identified between prenatal hypoxic exposure, third ventricle volume, sensory dysfunction, and severity of sleep disturbances. These findings suggest exposure to prenatal hypoxic risk conditions may exacerbate or modify the neurodevelopmental trajectory and symptom severity in ASD, emphasizing the need for better prenatal care and specific interventions to reduce these risks.

Gestational exposure to organophosphate esters and autism spectrum disorder and other non-typical development in a cohort with elevated familial likelihood

BackgroundGestational exposure to organophosphate esters (OPEs) is known to affect offspring neurodevelopment in animal studies. However, epidemiological evidence is inconsistent. MethodsParticipants were 277 mother-child pairs from MARBLES (Markers of Autism Risk in Babies – Learning Early Signs), a cohort with elevated familial likelihood of autism spectrum disorder (ASD). Nine OPE biomarker concentrations were quantified in maternal urine collected during the 2nd or 3rd trimesters of pregnancy. At age 3 years, children underwent clinical assessment for ASD and were classified into ASD, other non-typical development (non-TD), or typical development (TD). Multinomial logistic regression was used to estimate associations between each OPE biomarker and relative risk ratios for ASD and non-TD compared to TD. We examined effect modification by child sex and socioeconomic status. We also conducted a secondary analysis by using a continuous measure of ASD symptom severity as an outcome. Quantile-based g-computation was performed to examine the associations for an OPE mixture. ResultsOverall, no significant association was observed between the concentrations of each OPE biomarker or their mixture and relative risk for either ASD or non-TD. Effect modifications by child sex and maternal education were not observed. When the analysis was stratified by homeownership, among non-homeowners, ASD likelihood was increased with increased levels of bis(1-chloro-2-propyl) phosphate, bis(butoxyethyl) phosphate, and sum of di-n-butyl phosphate and di-iso-butyl phosphate (DBUP/DIBP) (pint < 0.10). Higher DBUP/DIBP were associated with increased ASD symptom severity scores. ConclusionThere was no clear evidence of gestational OPE exposure in association with relative risk for ASD; however, potential effect modification by homeownership was observed. Although our cohort includes children with elevated familial likelihood of ASD, this is the first study investigating the association between gestational OPE exposure and clinically-diagnosed ASD. Further research is needed to confirm our findings in the general population.

Longitudinal change in symptom severity in children with ASD: Results from the ELENA cohort.

Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition and understanding the changes in autism symptoms over time is crucial for tailoring support and interventions. This study therefore aimed to investigate the changes in symptom severity in a large cohort of children with ASD over a three-year follow-up period and identify factors that influence these changes. The study included 575 children diagnosed with ASD, ranging in age from 2 to 12 years, who were assessed at baseline and again 3 years later using the Autism Diagnostic Observational Schedule-2 (ADOS-2). ASD severity changes were investigated using the ADOS calibrated severity score (CSS) scores for total, social affect (SA) and restricted and repetitive behaviors (RRB). Results highlight four distinct patterns: stable high, stable low, increased, and decreased severity. The ADOS CSS total score changed for half of the sample, reflecting an increase in ASD severity for 21.9% and a decrease for 29.1% of children. For the other half, the ADOS CSS score remained stable, either high (34.4%) or low (14.6%). While the majority of previous studies reported stability in ASD severity, our findings revealed significant variability with frequent improvements in SA symptoms whereas RRBs remained stable or worsened. Our findings also showed that an improvement in SA was associated with the youngest group and early diagnosis. However, no clinical or sociodemographic factors were linked to changes in RRB, emphasizing the necessity for RRB-specific therapies. The third six-year follow-up point of the ongoing ELENA cohort study will map the long-term trajectories of the severity of ASD symptoms and their potential risk factors.

Genetic Variations and Serum Levels of Leptin and Ghrelin in Autism Spectrum Disorder.

This study aims to examine leptin and ghrelin gene polymorphisms and serum levels in children with autism spectrum disorder (ASD). The study comprised a case group of 40 children aged 2-7 diagnosed with ASD and a control group of 40 healthy children. The severity of ASD symptoms was assessed using the Childhood Autism Rating Scale and the Autism Behavior Checklist. Leptin and ghrelin gene variants were genotyped using polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) methods. Serum ghrelin and leptin levels were measured using enzyme-linked immunosorbent assay kits. In this study, gene polymorphisms and allele frequencies were examined, and no significant difference was found (P > .05 for all). Our findings indicated no significant difference in leptin serum levels between the groups (P = .584). However, ghrelin serum levels were significantly lower in the ASD group (P = .027). Receiver operating curve analysis to determine the cutoff value of serum ghrelin level as a diagnostic indicator for ASD resulted in a cutoff value of 885.7 pg/mL with 42.50% sensitivity and 85% specificity (P = .021). No significant relationship was found between leptin and ghrelin serum levels and the severity of ASD (P > .05 for all). Our study is the first to evaluate leptin and ghrelin gene polymorphisms in ASD. Our findings indicate no association between leptin and ghrelin gene polymorphisms and ASD. However, our study suggests that ghrelin serum levels may potentially contribute to the etiology of ASD. More research is needed to understand the role of leptin and ghrelin in ASD.

Interaction and association between multiple vitamins and social adaptability and severity of autism: A large-scale retrospective study from China.

Since children with autism spectrum disorder (ASD) often exhibit selective eating behaviors, it is generally believed that they may have abnormal nutrient structure, leading to aberrant concentrations of some serum vitamins. However, previous studies on serum vitamins in individuals with ASD are mixed. Additionally, the interaction and association between multiple serum vitamin and ASD-related symptoms remain unclear. This study utilized a cross-sectional survey with a large sample size (n = 1235) from China to clarify previous mixed findings, and examine the interaction and association between multiple serum vitamins (including folic acid [FA], vitamin A [VA], vitamin E [VE], vitamin B12 [VB12], and vitamin D [VD]) and social adaptability and symptom severity in children with ASD. Findings found that symptom severity was negatively associated with concentrations of serum VA, VE, VB12, and VD; while, social adaptability was significantly associated with the natural log-transformed concentrations of FA and VB12. Finding also revealed the interaction of VA and VE on the association between both vitamins and severity of ASD symptoms, as well as the interaction of VB12 and FA on the association between both vitamins and social adaptability. In particular, the combination of low concentration of VA and high concentration of VE is associated with the lowest risk of being "severely autistic"; while, the combination of low concentration of FA and high concentration of VB12 is associated with the lowest risk of being "poor social adaptability". This study offers the evidence for the requirement of considering multiple vitamins comprehensively, as well as valuable references for revealing the association between vitamin disparities and food selectivity in children with ASD.

Implicit learning in children and adolescents with and without autism spectrum disorders: Exploring the effects of individual differences.

Implicit learning plays an important role in the acquisition of various skills that are often deficient in individuals with autism spectrum disorder (ASD). The present study examines the implicit learning ability of children and adolescents with ASD, by comparing it to that of a typical group of peers, using the Artificial Grammar Learning (AGL) task. In addition, this study investigates whether the above ability is associated with individual characteristics, namely intelligence quotient (IQ), ASD symptoms severity, and individual perception style (global/holistic or local/focused). The sample consisted of 20 individuals with mild to relatively severe ASD symptoms and 20 age- and gender-matched typically developing (TD) individuals. The unconscious (implicit) nature of learning was assessed via a subjective measure, the "no-loss gambling" method, which allows an unbiased evaluation of the confidence accompanying each judgement. The results provided evidence of implicit learning, which was preserved in the ASD group, although reduced relative to the typical group. Multiple linear regressions with interaction terms between group and participants' scores on the Wechsler Abbreviated Scale of Intelligence (WASI), the Childhood Autism Rating Scale (CARS), and performance on a Navon-type task examined whether the possible relationships between each of the above scores and AGL and implicit learning differ in the two groups. Implicit learning was not significantly associated with IQ, ASD symptoms severity, or individual perception style (except for perception style in terms of reaction times [RTs] for the TD group). These results confirm and extend earlier findings supporting the resilience of implicit learning to individual differences.

Correlation of Co-Morbidities with Symptom Severity of Children with Autism Spectrum Disorder: A Cross-Sectional Survey.

This study aims to identify potential correlations of the severity of symptoms of children with autism spectrum disorder (ASD) with serum nutritional levels, body composition indicators, diet partiality, and sleep disturbances. The cohort of this cross-sectional study included 120 children with ASD and 110 typically developing (TD) children to assess symptoms of ASD, and to measure serum levels of vitamins and minerals and the body composition values. Diet partiality and sleep disturbances were assessed by administering questionnaires. The serum levels of folic acid, copper, and vitamin B were lower in children with ASD than in TD children, while magnesium and homocysteine were higher (p < 0.05). Children with ASD had greater chest circumference, abdominal skinfold thickness, and body mass index (BMI) than TD children (p < 0.05), and higher prevalences of diet partiality and sleep disturbances (p < 0.001). Lower vitamin A levels and higher vitamin D levels were related to social impairment in children with ASD. Moreover, there were significantly positive correlations of BMI, chest circumference, diet partiality, and sleep disturbances with severity of ASD symptoms (p < 0.05). Collectively, rational nutritional supplementation, dietary management, and behavioral interventions are essential for children with ASD.

Mental health in mothers of children with autism spectrum disorder: a cross-sectional study.

The increased prevalence of autism spectrum disorder (ASD) has placed a significant emotional and psychological burden on mothers. We explored the association between the severity of ASD symptoms in children and the mental health of their mothers during the COVID-19 pandemic. Our study included 1,924 mothers of children with ASD, enrolled in a web-based cross-sectional survey over 85 consecutive days to gather clinical and sociodemographic data. The severity of ASD symptoms was obtained according to the children's age. Using the Depression, Anxiety, and Stress Scales (DASS-21) scale, we found that 35.8 percent of mothers experienced both anxiety and depression. A high education level and a high family income reduced the chance of concurrent anxiety and depression. Conversely, unemployment, a child using psychiatric medication, and higher severity of ASD symptoms increased the chance. Notably, the severity of the ASD symptom was the sole predictor of maternal co-occurring anxiety and depression across all age groups (<3 years aOR = 2.04, 95%CI 1.07-3.89; 3-5 years aOR = 2.76, 95%CI 1.67-4.56; ≥ 6 years aOR = 1.61, 95%CI 1.04-2.50). Recognizing the challenges associated with ASD leads to greater acceptance and tailored interventions, ultimately improving the overall well-being of both individuals with ASD and their mothers.

Head circumference growth in children with Autism Spectrum Disorder: trend and clinical correlates in the first five years of life.

Macrocephaly is described in almost 15% of children with Autism Spectrum Disorder (ASD). Relationships between head growth trajectories and clinical findings in ASD children show a high degree of variability, highlighting the complex heterogeneity of the disorder. The aim of this study was to measure differences of the early growth trajectory of head circumference (HC) in children with ASD and macrocephaly compared to ASD normocephalic children, examining clinical correlates in the two groups of patients. HC data were collected from birth to 5 years of age in a sample of children with a confirmed diagnosis of ASD. Participants were classified into two groups: ASD macrocephaly (ASD-M, Z-scores ≥1.88 in at least two consecutive HC measurements), and ASD non-macrocephaly (ASD-N). Based on the distribution of HC measurements (Z-scores), five age groups were identified for the longitudinal study. Developmental and behavioral characteristics of the ASD-M children compared to the ASD-N group were compared by using standardized scores. 20,8% of the children sample met criteria for macrocephaly. HC values became indicative of macrocephaly in the ASD-M group at the age range from 1 to 6 months, and persisted thereafter throughout the first five years of age. ASD-M children showed significantly higher developmental quotients of Griffiths III B and D subscales compared to ASD-N group. No significant differences in the severity of ASD symptoms assessed by ADOS-2 were observed between ASD-M and ASD-N groups. In this study HC size from birth to 5 years links to accelerated HC growth rate as early as the first 6 months of age in children with ASD and macrocephaly, preceding the onset and diagnosis of ASD. We found that in early childhood, children with ASD-M may exhibit some advantages in language and social communication and emotional skills without differences in autism severity, when compared with age-matched normocephalic ASD children. Longitudinal analyses are required to catch-up prospectively possible relationships between head size as proxy measure of brain development and neuro-developmental and behavioral features in children with ASD.

Arachidonic acid-derived dihydroxy fatty acids in neonatal cord blood relate symptoms of autism spectrum disorders and social adaptive functioning: Hamamatsu Birth Cohort for Mothers and Children (HBC Study).

Autism spectrum disorder (ASD) is associated with abnormal lipid metabolism, such as a high total ratio of omega-6 to omega-3 in polyunsaturated fatty acids (PUFAs). PUFAs are metabolized to epoxy fatty acids by cytochrome P450 (CYP); then, dihydroxy fatty acid is produced by soluble epoxide hydrolase. This study examined the association between PUFA metabolites in the cord blood and ASD symptoms and adaptive functioning in children. This prospective cohort study utilized cord blood to quantify PUFA metabolites of the CYP pathway. The Autism Diagnostic Observation Schedule (ADOS-2) and Vineland Adaptive Behaviors Scales, Second Edition (VABS-II) were used to assess subsequent ASD symptoms and adaptive functioning in children at 6 years. The analysis included 200 children and their mothers. Arachidonic acid-derived diols, 11,12-diHETrE was found to impact ASD symptom severity on the ADOS-2-calibrated severity scores and impairment in the socialization domain as assessed by the VABS-II (P = 0.0003; P = 0.004, respectively). High levels of 11,12-diHETrE impact social affect in ASD symptoms (P = 0.002), while low levels of 8,9-diHETrE impact repetitive/restrictive behavior (P = 0.003). Notably, there was specificity in the association between diHETrE and ASD symptoms, especially in girls. These findings suggest that the dynamics of diHETrE during the fetal period is important in the developmental trajectory of children after birth. Given that the role of diol metabolites in neurodevelopment in vivo is completely uncharacterized, the results of this study provide important insight into the role of diHETrE and ASD pathophysiology.

Altered white matter connectivity of ventral language networks in autism spectrum disorder: An automated fiber quantification analysis with multi-site datasets

Comprehension and pragmatic deficits are prevalent in autism spectrum disorder (ASD) and are potentially linked to altered connectivity in the ventral language networks. However, previous magnetic resonance imaging studies have not sufficiently explored the microstructural abnormalities in the ventral fiber tracts underlying comprehension dysfunction in ASD. Additionally, the precise locations of white matter (WM) changes in the long tracts of patients with ASD remain poorly understood. In the current study, we applied the automated fiber-tract quantification (AFQ) method to investigate the fine-grained WM properties of the ventral language pathway and their relationships with comprehension and symptom manifestation in ASD. The analysis included diffusion/T1 weighted imaging data of 83 individuals with ASD and 83 age-matched typically developing (TD) controls. Case-control comparisons were performed on the diffusion metrics of the ventral tracts at both the global and point-wise levels. We also explored correlations between diffusion metrics, comprehension performance, and ASD traits, and conducted subgroup analyses based on age range to examine developmental moderating effects. Individuals with ASD exhibited remarkable hypoconnectivity in the ventral tracts, particularly in the temporal portions of the left inferior longitudinal fasciculus (ILF) and the inferior fronto-occipital fasciculus (IFOF). These WM abnormalities were associated with poor comprehension and more severe ASD symptoms. Furthermore, WM alterations in the ventral tract and their correlation with comprehension dysfunction were more prominent in younger children with ASD than in adolescents. These findings indicate that WM disruptions in the temporal portions of the left ILF/IFOF are most notable in ASD, potentially constituting the core neurological underpinnings of comprehension and communication deficits in autism. Moreover, impaired WM connectivity and comprehension ability in patients with ASD appear to improve with age.

Study Protocol: Pegasus: psychotherapy incorporating horses for ‘therapy-resistant’ adolescents with autism spectrum disorders, a study with series of randomised, baseline controlled n-of-1 trials

BackgroundFor people with autism spectrum disorder (ASD), daily life can be highly stressful with many unpredictable events that can evoke emotion dysregulation (ED): a strong difficulty with appropriately negative affect regulation. For some of the patients with ASD, treatment as usual does not prove to be effective for ED. They may be at risk of life-long impairment, development of other disorders and loss of motivation for most regular forms of therapy. A highly promising method that may prove effective for therapy-resistant individuals with ASD is Psychotherapy incorporating horses (PIH). PIH uses the interactions of the horse and the patients on the ground and does not include horseriding. While often met with prejudgment and scepticism, reports from parents and therapists as well as a recent systematic review suggest that PIH may have beneficial effects on youths with ASD. Therefore, we examine clinical outcomes both in the short and in the long terms of PIH offered to adolescents with ASD and severe ED despite regular therapy.MethodsA total of 35 adolescents aged 11–18 years with ASD will receive PIH during 15 sessions once a week with randomization to five different groups differentiating in baseline phase from 2 to 6 weeks. PIH uses horses to promote social awareness and self-awareness as well as relationship management and self-management. The primary outcome is the response to treatment on the Emotion Dysregulation Index (EDI). The secondary outcome measures include ASD symptom severity, quality of life, self-esteem, global and family functioning, and goal attainment. Assessments take place at the baseline (T0), at the end of baseline phase A (T1), after completion of intervention phase B (T2), after the end of post-measurement phase C (T3) and after one year (T4). Qualitative interviews of participants, parents and therapists will be held to reveal facilitators and barriers of PIH and a cost-effectiveness study will be performed.DiscussionThis study aims at contributing to clinical practice for adolescents with ASD and persistent emotion regulation problems despite 1.5 year of treatment by offering Psychotherapy incorporating horses in a study with series of randomised, baseline controlled n-of-1 trials.Trial registrationwww.ClinicalTrials.gov NCT05200351, December 10th 2021.

Coactivation pattern analysis reveals altered whole-brain functional transient dynamics in autism spectrum disorder.

Recent studies on autism spectrum disorder (ASD) have identified recurring states dominated by similar coactivation pattern (CAP) and revealed associations between dysfunction in seed-based large-scale brain networks and clinical symptoms. However, the presence of abnormalities in moment-to-moment whole-brain dynamics in ASD remains uncertain. In this study, we employed seed-free CAP analysis to identify transient brain activity configurations and investigate dynamic abnormalities in ASD. We utilized a substantial multisite resting-state fMRI dataset consisting of 354 individuals with ASD and 446 healthy controls (HCs, from HC groups and 2). CAP were generated from a subgroup of all HC subjects (HC group 1) through temporal K-means clustering, identifying four CAPs. These four CAPs exhibited either the activation or inhibition of the default mode network (DMN) and were grouped into two pairs with opposing spatial CAPs. CAPs for HC group 2 and ASD were identified by their spatial similarity to those for HC group 1. Compared with individuals in HC group 2, those with ASD spent more time in CAPs involving the ventral attention network but less time in CAPs related to executive control and the dorsal attention network. Support vector machine analysis demonstrated that the aberrant dynamic characteristics of CAPs achieved an accuracy of 74.87% in multisite classification. In addition, we used whole-brain dynamics to predict symptom severity in ASD. Our findings revealed whole-brain dynamic functional abnormalities in ASD from a single transient perspective, emphasizing the importance of the DMN in abnormal dynamic functional activity in ASD and suggesting that temporally dynamic techniques offer novel insights into time-varying neural processes.

Comparison of Serum Neurofilament Light Chain and Tau Protein Levels in Cases with Autism Spectrum Disorder and Their Healthy Siblings and Healthy Controls.

: There is a growing interest among clinicians and researchers in identifying potential biomarkers associated with autism. Neurofilament light chain (NfL) and Tau protein, which are proteins associated with neurodegeneration and neuroaxonal degeneration, are particularly promising potential biomarker candidates in this field. : In this study, we compared serum NfL (sNfL) and serum Tau (sTau) levels in Autism spectrum disorder (ASD) patients, their healthy siblings (HS), and healthy controls (HC), aimed to investigate their relationship with ASD severity. Our study included 43 ASD-diagnosed participants, 43 HS participants and 42 HC participants. Clinical characteristics of the participants were assesed by Kiddie Schedule for Affective Disorders and Schizophrenia, Childhood Autism Rating Scale, Aberrant Behavior Checklist, and Strengths and Difficulties Questionnaire. Serum samples were subjected to analysis via enzyme-linked immunosorbent assay to quantitatively measure the levels of NfL and Tau protein. : sNfL levels in the ASD group were significantly higher than both of the control groups. Regarding sTau levels, no significant difference was found between study and control groups. In addition, NfL and Tau levels were not significantly correlated with ASD symptom severity. : Our findings may indicate that the sNfl levels associated with neuroaxonal damage may constitue a potential clinical biomarker rather than being an endophenotype phenomena.

Circuit mechanism underlying fragmented sleep and memory deficits in 16p11.2 deletion mouse model of autism.

Sleep disturbances are prevalent in children with autism spectrum disorder (ASD) and have a major impact on the quality of life. Strikingly, sleep problems are positively correlated with the severity of ASD symptoms, such as memory impairment. However, the neural mechanisms underlying sleep disturbances and cognitive deficits in ASD are largely unexplored. Here, we show that non-rapid eye movement sleep (NREMs) is highly fragmented in the 16p11.2 deletion mouse model of ASD. The degree of sleep fragmentation is reflected in an increased number of calcium transients in the activity of locus coeruleus noradrenergic (LC-NE) neurons during NREMs. Exposure to a novel environment further exacerbates sleep disturbances in 16p11.2 deletion mice by fragmenting NREMs and decreasing rapid eye movement sleep (REMs). In contrast, optogenetic inhibition of LC-NE neurons and pharmacological blockade of noradrenergic transmission using clonidine reverse sleep fragmentation. Furthermore, inhibiting LC-NE neurons restores memory. Rabies-mediated unbiased screening of presynaptic neurons reveals altered connectivity of LC-NE neurons with sleep- and memory regulatory brain regions in 16p11.2 deletion mice. Our findings demonstrate that heightened activity of LC-NE neurons and altered brain-wide connectivity underlies sleep fragmentation in 16p11.2 deletion mice and identify a crucial role of the LC-NE system in regulating sleep stability and memory in ASD.

Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome.

Our study characterized the neurodevelopmental spectrum of individuals with PTEN Hamartoma Tumor Syndrome (PHTS), a syndrome that predisposes to both neurodevelopmental phenotypes and cancer risk. We aim to better understand life-impacting neurodevelopmental features of PHTS. Our study recruited 20 children/adolescents with PHTS, who were then administered assessments for autism spectrum disorder (ASD) and other neurocognitive measures, including assessment of IQ, executive and adaptive functioning, and health-related quality of life. Thirteen individuals (65%) were identified as having ASD, of which five were newly diagnosed during the study. Of those, ASD symptom severity was in the mild-moderate range for 77%. Overall, IQ was in the average range, with a mean of 92.61 (SD 24.45, p = 0.5), though there was a non-statistically significant trend toward individuals without ASD having a higher mean IQ (102.7 vs 82.3; p = 0.1). Subjects had significant impairment in processing speed (mean 75.38, SD 24.75, p < 0.05), decreased adaptive functioning skills across all domains, and a trend toward having more executive functioning problems. Individuals with PHTS are at increased risk of neurodevelopmental disorders, including ASD and impaired executive and adaptive functioning. Although clear guidelines exist for cancer surveillance for individuals with PHTS, additional guidelines and screening for neurodevelopmental disorders are warranted.

Serum interleukin-17 A and homocysteine levels in children with autism

BackgroundAutism Spectrum Disorder (ASD) is a neurodevelopmental condition that typically emerges early in childhood. This study aimed to explore the potential link between serum levels of vitamin B12 and homocysteine (Hcy) and the severity of ASD symptoms in children.MethodsIn this study, 50 children diagnosed with ASD comprised the observation group, while 50 healthy children constituted the control group. Serum levels of IL-17 A, Hcy, folate, and vitamin B12 were compared between the study group and control group, as well as among children with different degrees of ASD severity. The correlation between the Childhood Autism Rating Scale (CARS) score and serum levels of IL-17 A, Hcy, folate, and vitamin B12 was examined. Additionally, the relationship between serum IL-17 A and Hcy levels and their association with the severity ASD were explored.ResultsCompared to the control group, the observation group demonstrated elevated serum Hcy and IL-17 A levels alongside decreased folate and vitamin B12 levels. Individuals with severe ASD exhibited higher Hcy and IL-17 A levels but lower folate and vitamin B12 levels compared to those with mild to moderate ASD. The CARS score showed negative correlations with serum folate and vitamin B12 levels and positive correlations with serum IL-17 A and Hcy levels in ASD patients. Additionally, serum Hcy and IL-17 A levels were correlated with ASD severity.ConclusionChildren diagnosed with ASD presented with reduced serum vitamin B12 levels and increased levels of Hcy, potentially contributing to the onset and severity of ASD.

Deep learning autism classification and prediction

One of the most prevalent illnesses in children is autism spectrum disorder (ASD) (1 in 44). According to some estimates, 53% of kids with ASD engage in one or more challenging behaviors (CB; aggression, self-injury, property destruction, elopement, etc.), which is significantly higher than the prevalence among their peers who are typically developing or who have other developmental disorders. Numerous, significant negative effects of CB on the person exist, and they are linked to a worse long-term outlook. For caregivers of children with ASD, the presence of CB is a better indicator of stress than the severity of the child's core ASD symptoms. The validity of fixed features extracted from autistic children’s face photographs as a biomarker to demarcate them from healthy children is investigated in this study paper. The proposed paper aims to use deep learning models (CNN) to classify autism spectrum disorders based on facial expression images. By leveraging the power of deep convolutional neural networks, based on the Kaggle dataset. We used and prepared data input to CNN models where the split image in two parts horizontally and vertically as feature extractor’s model as a binary classifier to identify autism in children accurately. Our results reveal that the proposed model achieved an accuracy of 94%, Sensitivity of 93% and Specificity of 95% this indicator is considered important and can be built or relied on.

Promoting emotional and behavioral interventions in ASD treatment: Evidence from EPIGRAM, A naturalistic, prospective and longitudinal study

BackgroundPrognostic factors from naturalistic treatment studies of children with Autism Spectrum Disorder (ASD) remain largely unknown. We aimed to identify baseline and treatment-related prognostic predictors at 1-year follow-up after Integrative Care Practices (ICPs). MethodsEighty-nine preschool children with severe ASD were given ICP combining nine therapeutic workshops based on children’s needs. Participants were assessed at baseline and during 12 months follow-up with the Psycho-educational Profile-3-R, Children Autism Rating Scale, Parental Global Impression, and the Autistic Behaviors Scale. We assessed prognostic predictors using multivariable regression models and explored treatment ingredients influencing outcome using Classification and Regression Trees (CART). ResultsMultivariable models showed that being a child from first generation immigrant parents predicted increased maladaptive behaviors, whereas play activities had an opposite effect; severity of ASD symptoms and impaired cognitive functions predicted worse autism severity at follow-up; and lower play activities predicted worse parent impression. Regarding treatment effects, more emotion/behavioral interventions predicted better outcomes, and more communication interventions predicted lower autism severity, whereas more education and cognitive interventions had an opposite effect. CART confirmed that more hours of intervention in the emotion/behavioral domain helped classifying cases with better outcomes. More parental support was associated with decreased maladaptive behaviors. Sensorimotor and education interventions also significantly contributed to classifying cases according to outcomes but defined subgroups with opposite prognosis. ConclusionChildren who exhibited the best prognosis following ICPs had less autism severity, better cognition, and non-immigrant parents at baseline. Emotion/behavior interventions appeared key across all outcomes and should be promoted.