OBJECTIVES: We aimed to estimate the prevalence of autism spectrum disorder between 2 and 4 years old in Riyadh, Saudi Arabi Methods: A cross-sectional study was conducted among Saudi children aged 2-4 years between December 2017 and March 2018 at five different hospitals in Riyadh. RESULTS: A Total of 398 children were included. The prevalence of ASD was estimated to be (2.51%, 1:40, 25 per 1000)), with a male to female ratio of 3:1. CONCLUSION: The estimated high prevalence rate of ASD is close to recent trends in international studies. Future population-based studies are required.

• Klíčová slova
• ADHD, ASD, Autism, Learning disabilities, Prevalence, Saudi Arabia,
• MeSH
• dítě MeSH
• lidé MeSH
• nemocnice MeSH
• poruchy autistického spektra * epidemiologie   MeSH
• předškolní dítě MeSH
• prevalence MeSH
• průřezové studie MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Saudská Arábie epidemiologie   MeSH

All 91,823 children born in 1980 in Bohemia (population 6.314 million; area 52,478 square kilometers) were examined at least four times during infancy and at the age of three and four years. All children who died were autopsied and those with heart disease were selected. A total of 779 children (8.223/1000 live births) were suspected by provincial pediatric cardiologists of having a heart disease. All of these were examined at the age of four years at our Center of Pediatric Cardiology. At this age heart disease was proved in 613 alive or deceased children (6.676/1000 live births), congenital cardiac malformations in 589 (6.415/1000 live births), and cardiomyopathies in 24. The most frequent congenital heart defects (CHD) were ventricular septal defect (VSD) (31.41%), atrial septal defect (ASD) (11.37%), aortic stenosis (AS) (7.64%), pulmonary stenosis (PS) (7.13%), coarctation of the aorta (CoA) (5.77%), and transposition of the great arteries (TGA) (5.43%), followed by persistent ductus arteriosus (PDA) (4.75%), atrioventricular septal defect (AVSD) and hypoplastic left heart syndrome (HLHS) (4.07% each), tetralogy of Fallot (TF) (3.56%), and pulmonary atresia (PA) (2.38%). A prevalence of less than 0.1/1000 live births was found for the remaining cardiovascular defects. One hundred fifty-nine (25.9%) patients were admitted to our highly specialized center, 116 (19.7%) catheterized and 85 (13.9%) treated surgically, during the first four years of life. A total of 440 (71.8%) patients survived the fourth year of life. The percentage of deaths was 25.6% among those with congenital heart diseases and 71% with cardiomyopathies. The overall mortality rate was 27% in surgically and 26% in medically treated patients.

• MeSH
• aortální stenóza vrozené   epidemiologie   chirurgie   MeSH
• defekty komorového septa epidemiologie   mortalita   chirurgie   MeSH
• defekty septa síní epidemiologie   mortalita   chirurgie   MeSH
• koarktace aorty epidemiologie   mortalita   chirurgie   MeSH
• kojenec MeSH
• lidé MeSH
• nemoci srdečních chlopní vrozené   epidemiologie   mortalita   chirurgie   MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• prevalence MeSH
• prospektivní studie MeSH
• stenóza pulmonální chlopně vrozené   epidemiologie   chirurgie   MeSH
• transpozice velkých cév epidemiologie   mortalita   chirurgie   MeSH
• vrozené srdeční vady epidemiologie   mortalita   chirurgie   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Geografické názvy
• Československo MeSH

The continuous rise of autism spectrum disorder (ASD) prevalent in the past few decades is causing an increase in public health and socioeconomic concern. A consensus suggests the involvement of both genetic and environmental factors in the ASD etiopathogenesis. Fluoride (F) is rarely recognized among the environmental risk factors of ASD, since the neurotoxic effects of F are not generally accepted. Our review aims to provide evidence of F neurotoxicity. We assess the risk of chronic F exposure in the ASD etiopathology and investigate the role of metabolic and mitochondrial dysfunction, oxidative stress and inflammation, immunoexcitotoxicity, and decreased melatonin levels. These symptoms have been observed both after chronic F exposure as well as in ASD. Moreover, we show that F in synergistic interactions with aluminum's free metal cation (Al3+) can reinforce the pathological symptoms of ASD. This reinforcement takes place at concentrations several times lower than when acting alone. A high ASD prevalence has been reported from countries with water fluoridation as well as from endemic fluorosis areas. We suggest focusing the ASD prevention on the reduction of the F and Al3+ burdens from daily life.

• Klíčová slova
• ASD prevalence, aluminum, autism spectrum disorder, chronic fluoride exposure, endemic fluorosis, immunoexcitotoxicity, neurotoxicity, socioeconomic status, water fluoridation,
• MeSH
• fluoridy toxicita   MeSH
• lidé MeSH
• neurotoxické syndromy epidemiologie   etiologie   MeSH
• poruchy autistického spektra epidemiologie   etiologie   MeSH
• rizikové faktory MeSH
• vystavení vlivu životního prostředí škodlivé účinky   MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• fluoridy MeSH

Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder with a high risk of early-onset epilepsy and a high prevalence of neurodevelopmental comorbidities, including intellectual disability and autism spectrum disorder (ASD). Therefore, TSC is an interesting disease model to investigate early biomarkers of neurodevelopmental comorbidities when interventions are favourable. We investigated whether early EEG characteristics can be used to predict neurodevelopment in infants with TSC. The first recorded EEG of 64 infants with TSC, enrolled in the international prospective EPISTOP trial (recorded at a median gestational age 42 4/7 weeks) was first visually assessed. EEG characteristics were correlated with ASD risk based on the ADOS-2 score, and cognitive, language, and motor developmental quotients (Bayley Scales of Infant and Toddler Development III) at the age of 24 months. Quantitative EEG analysis was used to validate the relationship between EEG background abnormalities and ASD risk. An abnormal first EEG (OR = 4.1, p-value = 0.027) and more specifically a dysmature EEG background (OR = 4.6, p-value = 0.017) was associated with a higher probability of ASD traits at the age of 24 months. This association between an early abnormal EEG and ASD risk remained significant in a multivariable model, adjusting for mutation and treatment (adjusted OR = 4.2, p-value = 0.029). A dysmature EEG background was also associated with lower cognitive (p-value = 0.029), language (p-value = 0.001), and motor (p-value = 0.017) developmental quotients at the age of 24 months. Our findings suggest that early EEG characteristics in newborns and infants with TSC can be used to predict neurodevelopmental comorbidities.

• Klíčová slova
• EEG, TAND profile, autism (ASD), biomarker, neurodeveloment, tuberous sclerosis complex (TSC),
• Publikační typ
• časopisecké články MeSH

Autism is a neurodevelopmental disorder belonging to the autism spectrum disorder (ASD). In ASDs, the individuals show substantial impairments in social communication, repetitive behaviours, and sensory behaviours deficits in the early stages of their life. Globally, the prevalence of autism is estimated to be less than 1%, especially in high- -income countries. In recent decades, there has been a drastic increase in the incidence of ASD, which has put ASD into the category of epidemics. Presently, two US Food and Drug Administration-approved drugs, aripiprazole and risperidone, are used to treat symptoms of agitation and irritability in autistic children. However, to date, no medication has been found to treat the core symptoms of ASD. The adverse side effects of conventional medicine and limited treatment options have led families of autistic children to turn to complementary and alternative medicine (CAM) treatments, which are perceived as relatively safe compared to conventional medicine. Recently N, N-dimethylglycine (DMG), a dietary supplement, has emerged as a useful supplement to improve the mental and physical state of children with ASD. The current review discusses ASD, the prevalence of ASD, the CAM approach, and the efficacy of CAM treatment in children with ASD. Moreover, it highlights the chemistry, pharmacological effect, and clinical studies of DMG, highlighting its potential for improving the lifestyle of children with ASD.

• Klíčová slova
• Dimethylglycine, autism spectrum disorders (ASD), central nervous system (CNS), complementary and alternative medicine (CAM), neurological disorders, pharmacology,
• MeSH
• autistická porucha * MeSH
• dítě MeSH
• lidé MeSH
• poruchy autistického spektra * farmakoterapie   epidemiologie   MeSH
• sarkosin analogy a deriváty   terapeutické užití   MeSH
• živiny MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• dimethylglycine MeSH Prohlížeč
• sarkosin MeSH

BACKGROUND: Studies of children with very low birth weight (VLBW, 1,000-1,500 g) and extremely low birth weight (ELBW, less than 1,000 g) indicate that this population seems to be at increased risk of autism spectrum disorder (ASD). METHODS: Parents of 101 VLBW and ELBW children (age 2 years, corrected for prematurity) agreed to participate in the study and signed informed consents; however, parents of only 75 children (44 boys, 31 girls) completed the screening questionnaires. The screening battery included the Modified Checklist for Autism in Toddlers (M-CHAT), Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist (CSBS-DP-ITC), and the Infant/Toddler Sensory Profile (ITSP). Children with disabilities were excluded. All children who screened positive on any of the screening tools were subsequently invited for a detailed assessment. RESULTS: Thirty-two children (42.7%) screened positive on at least one of the screening questionnaires. The screening tool with the most positive results was the CSBS-DP-ITC (26 positive screens), followed by the M-CHAT (19 positive screens) and the ITSP (11 positive screens). Of the 32 children who tested positive, 19 participated in the detailed follow-up assessment. A diagnosis of ASD was confirmed in eight of the 19 children. ASD prevalence, calculated from those 19 children and those with negative screening results (43 children), yielded a prevalence of 12.9% in the sample. The difference in frequency of positive screens between the tests was significant (P=0.011). In pair comparisons, ITSP was found to be significantly less positive than CSBS-DP-ITC (P=0.032). No significant differences were found between the M-CHAT and CSBS-DP-ITC or between the M-CHAT and ITSP. CONCLUSION: The results strongly support the hypothesis of an increased prevalence of autism in children with a birth weight less than 1,500 g.

• Klíčová slova
• Autism Diagnostic Observation Schedule, autism spectrum disorder, preterm children, prevalence, screening,
• Publikační typ
• časopisecké články MeSH

Families caring for children with autism spectrum disorder (ASD) have reported poorer family functioning. Social support might strengthen family functioning, but limited research to date has focused on this association in China. This study conducted a cross-sectional survey of Chinese families that have children with ASD to examine the relationship between social support and family functioning. Caregivers of children with ASD from Sichuan province in China (N = 167) were surveyed concerning their perceived social support and family functioning. The Social Support Rating Scale was used to investigate caregivers' perceived social support from three dimensions: subjective support, objective support, and the utilization of support. A Chinese version of the Family Adaptability and Cohesion Scale was used to investigate their perceptions of family cohesion and adaptability. The Pearson correlation coefficient and stepwise multiple regression were used for analyses. The results suggested that social support was positively related to family cohesion and adaptability. Of the three sub-domains of social support, both subjective support and the utilization of support were positively associated with family cohesion and adaptability. The study's findings evidenced the importance of different types of social support and could be used to develop a targeted support service for families that have children with ASD to improve their family functioning and sustain the family unit.

• Klíčová slova
• autism spectrum disorder, caregivers, families, family functioning, social support,
• MeSH
• dítě MeSH
• lidé MeSH
• osoby pečující o pacienty MeSH
• poruchy autistického spektra * MeSH
• průřezové studie MeSH
• rodina MeSH
• sociální opora MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Čína MeSH

Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by impaired social interaction and communication, as well as repetitive behavior and restricted interests. There is convincing evidence that the intestinal inflammation is involved in etiology of ASD. Increased levels of inflammatory markers were shown to be associated with more aberrant behaviors and communication of subjects with ASD. Calprotectin in the feces is produced by activated neutrophils and epithelial cells of the gut mucosa, and its levels reflect local inflammation of the gastrointestinal tract. Concentration of fecal calprotectin was determined by ELISA method in 87 individuals with ASD and 51 controls, of that 29 siblings of children with ASD and 22 non-related controls. In non-relatives significantly lower values of fecal calprotectin were observed than in both subjects with ASD and their siblings. In the group with ASD significant correlations of fecal calprotectin with all domains of the ADI-R diagnostic tool were found: qualitative abnormalities in reciprocal social interaction and communication, restrictive and repetitive patterns of behavior. Results suggest that low grade intestinal inflammation may be one of factors implicated in the pathophysiology of ASD.

• MeSH
• dítě MeSH
• ELISA metody   MeSH
• feces * chemie   MeSH
• interpersonální vztahy * MeSH
• leukocytární L1-antigenní komplex analýza   metabolismus   MeSH
• lidé MeSH
• mladiství MeSH
• neuropsychologické testy * MeSH
• poruchy autistického spektra diagnóza   epidemiologie   metabolismus   MeSH
• předškolní dítě MeSH
• průřezové studie MeSH
• zánět diagnóza   epidemiologie   metabolismus   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Slovenská republika epidemiologie   MeSH
• Názvy látek
• leukocytární L1-antigenní komplex MeSH

Autism spectrum disorder (ASD) is a group of human neurodevelopmental disorders with significant global prevalence. Deficits in social communication and interaction and repetitive, stereotyped patterns of behaviour characterise ASD. The aetiology of ASD is unclear, but several genetic and environmental risk factors, either alone or in combination, are implicated in its development. To date, the underlying pathogenic mechanisms of ASD remain incompletely understood due to its heterogeneity. To better understand the pathogenesis of ASD, various animal models have been developed. The use of animals in ASD research allows the exploration of the biological substrates of social behaviour, cognition, and reward sensitivity, which are key components of ASD symptoms. This review outlines the commonly employed animal models in ASD research and explores their applications and the associated challenges.

• Klíčová slova
• animal experimental models, novel experimental models, primate models, rodent models, zebrafish models,
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

The diagnostic prevalence of autism spectrum disorders (ASD) shows boys to be more affected than girls. Due to this reason, there is a lack of research including and observing ASD girls. Present study was aimed to detect hormones of steroidogenesis pathway in prepubertal girls (n = 16) diagnosed with ASD and sex and age matched neurotypical controls (CTRL, n = 16). Collected plasma served for detection of conjugated and unconjugated steroids using gas chromatography tandem-mass spectrometry. We observed higher levels of steroids modulating ionotropic receptors, especially, GABAergic steroids and pregnenolone sulfate in ASD group. Concentration of many steroids throughout the pathway tend to be higher in ASD girls compared to CTRL. Pregnenolone and its isomers together with polar progestins and androstanes, i.e. sulfated steroids, were found to be higher in ASD group in comparison with CTRL group. Based on steroid product to precursor ratios, ASD group showed higher levels of sulfated/conjugated steroids suggesting higher sulfotransferase or lower steroid sulfatase activity and we also obtained data indicating lower activity of steroid 11β-hydroxylase compared to CTRL group despite higher corticosterone level observed in ASD. These findings need to be generalized in future studies to examine both genders and other age groups.

• MeSH
• dítě MeSH
• lidé MeSH
• plynová chromatografie s hmotnostně spektrometrickou detekcí MeSH
• poruchy autistického spektra * metabolismus   MeSH
• předškolní dítě MeSH
• pregnenolon * metabolismus   krev   MeSH
• steroidy metabolismus   krev   MeSH
• studie případů a kontrol MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• pregnenolon * MeSH
• pregnenolone sulfate MeSH Prohlížeč
• steroidy MeSH