Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.

BACKGROUND: Phelan-McDermid syndrome (PMS) is caused by monoallelic loss or inactivation at the SHANK3 gene, located in human chr 22q13.33, and is often associated with Autism Spectrum Disorder (ASD). OBJECTIVES: To assess the clinical and developmental phenotype in a novel sample of PMS patients, including for the first time auxometric trajectories and serotonin blood levels. METHODS: 70 Italian PMS patients were clinically characterized by parental report, direct medical observation, and a thorough medical and psychodiagnostic protocol. Serotonin levels were measured in platelet-rich plasma by HPLC. RESULTS: Our sample includes 59 (84.3%) cases with chr. 22q13 terminal deletion, 5 (7.1%) disruptive SHANK3 mutations, and 6 (8.6%) ring chromosome 22. Intellectual disability was present in 69 (98.6%) cases, motor coordination disorder in 65 (92.9%), ASD in 20 (28.6%), and lifetime bipolar disorder in 12 (17.1%). Prenatal and postnatal complications were frequent (22.9%-48.6%). Expressive and receptive language were absent in 49 (70.0%) and 19 (27.1%) cases, respectively. Decreased pain sensitivity was reported in 56 (80.0%), hyperactivity in 49 (80.3%), abnormal sleep in 45 (64.3%), congenital dysmorphisms in 35 (58.3%), chronic stool abnormalities and especially constipation in 29 (41.4%). Parents reported noticing behavioral abnormalities during early childhood immediately after an infective episode in 34 (48.6%) patients. Brain MRI anomalies were observed in 53 (79.1%), EEG abnormalities in 16 (23.5%), kidney and upper urinary tract malformations in 18 (28.1%). Two novel phenotypes emerged: (a) a subgroup of 12/44 (27.3%) PMS patients displays smaller head size at enrollment (mean age 11.8 yrs) compared to their first year of neonatal life, documenting a deceleration of head growth (p < 0.001); (b) serotonin blood levels are significantly lower in 21 PMS patients compared to their 21 unaffected siblings (P < 0.05), and to 432 idiopathic ASD cases (p < 0.001). CONCLUSIONS: We replicate and extend the description of many phenotypic characteristics present in PMS, and report two novel features: (1) growth trajectories are variable and head growth appears to slow down during childhood in some PMS patients; (2) serotonin blood levels are decreased in PMS, and not increased as frequently occurs in ASD. Further investigations of these novel features are under way.

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.

Specific EEG resting state biomarkers in FXS and ASD.

BACKGROUND: Fragile X syndrome (FXS) and autism spectrum disorder (ASD) are neurodevelopmental conditions that often have a substantial impact on daily functioning and quality of life. FXS is the most common cause of inherited intellectual disability (ID) and the most common monogenetic cause of ASD. Previous literature has shown that electrophysiological activity measured by electroencephalogram (EEG) during resting state is perturbated in FXS and ASD. However, whether electrophysiological profiles of participants with FXS and ASD are similar remains unclear. The aim of this study was to compare EEG alterations found in these two clinical populations presenting varying degrees of cognitive and behavioral impairments. METHODS: Resting state EEG signal complexity, alpha peak frequency (APF) and power spectral density (PSD) were compared between 47 participants with FXS (aged between 5-20), 49 participants with ASD (aged between 6-17), and 52 neurotypical (NT) controls with a similar age distribution using MANCOVAs with age as covariate when appropriate. MANCOVAs controlling for age, when appropriate, and nonverbal intelligence quotient (NVIQ) score were subsequently performed to determine the impact of cognitive functioning on EEG alterations. RESULTS: Our results showed that FXS participants manifested decreased signal complexity and APF compared to ASD participants and NT controls, as well as altered power in the theta, alpha and low gamma frequency bands. ASD participants showed exaggerated beta power compared to FXS participants and NT controls, as well as enhanced low and high gamma power compared to NT controls. However, ASD participants did not manifest altered signal complexity or APF. Furthermore, when controlling for NVIQ, results of decreased complexity in higher scales and lower APF in FXS participants compared to NT controls and ASD participants were not replicated. CONCLUSIONS: These findings suggest that signal complexity and APF might reflect cognitive functioning, while altered power in the low gamma frequency band might be associated with neurodevelopmental conditions, particularly FXS and ASD.

Exploring the Congruence of actigraphy and the Pediatric Autism Insomnia rating Scale.

OBJECTIVE/BACKGROUND: Insomnia is common in children with autism spectrum disorder (ASD). We recently developed and validated the 21-item Pediatric Autism Insomnia Rating Scale (PAIRS). This report explores the associations and agreements between actigraphy and PAIRS. PARTICIPANTS METHODS: Children with ASD, with and without sleep problems, were assessed with a battery of parent-rated and clinician measures (N = 134). In a subset (n = 70), a wrist-worn actigraph measured sleep for five consecutive nights. Parents completed logs for scoring sleep intervals. Spearman correlations evaluated associations with the PAIRS and actigraphy indices (sleep onset latency = SOL, wake after sleep onset = WASO, total sleep time = TST, sleep efficiency = SE%). Agreements on "poor sleepers" based on PAIRS total score (≥33) and conventional thresholds for TST and SE% were evaluated with Cohen's Kappa and McNemar's test. RESULTS: Actigraphy data were averaged over 4.64 ± 0.68 nights in 70 children (mean age = 7.3 ± 2.9, 74.3 % male). There were no significant correlations between PAIRS and any actigraphy indices. On TST, 48.6 % (n = 34) and on SE% 52.9 % (n = 37) were classified as "poor sleepers" compared to 32.9 % (n = 23) on PAIRS (kappa = 0.11 for TST and 0.27 for SE%). P-values on McNemar's Chi square test for PAIRS with TST and with SE% were 0.072 and 0.011, respectfully. CONCLUSIONS: These results suggest that actigraphy and PAIRS do not agree. Actigraphy TST captures movement and an estimate of specific sleep parameters. PAIRS is a broader measure that incorporates sleep disturbance and sleep-related impairment.

Sensory symptoms associated with autistic traits and anxiety levels in children aged 6-11 years.

BACKGROUND: Autism spectrum conditions (ASC) and quantitative autistic traits (QATs) are associated with sensory symptoms, which may contribute to anxiety and adversely affect social and cognitive development. Although sensory symptoms can occur across all senses, the relative roles of specific sensory modalities as contributors to the autistic phenotype and to anxiety are not well understood. The objective of this study was to examine which sensory symptoms were most predictive of high anxiety. METHODS: We recruited 257 female primary caregivers of children aged 6 to 11 years (49% girls) to a questionnaire study comprising parent-report measures for classical QATs (social, communicative, and rigid), autism-related sensorimotor symptoms (visual, auditory, tactile, olfactory, gustatory, vestibular, proprioceptive, and motor), and anxiety symptoms. First, Bayesian stochastic search variable selection (SSVS) was used to identify the most probable sensorimotor predictors of specific QATs as well as diagnosed ASC. Then, the selected predictors were used in another SSVS, using anxiety symptoms as a dependent variable, to identify which of the autism-relevant sensorimotor symptoms were most robustly predictive of anxiety. Finally, the effect sizes of anxiety-related sensory symptoms were estimated with linear regressions. RESULTS: We found that auditory symptoms and motor difficulties were most predictive of ASC diagnosis. Developmental motor difficulties were also strongly related to all individual QATs, whereas auditory symptoms were more selectively predictive of rigid traits. Tactile symptoms robustly predicted social interaction QATs, and proprioceptive symptoms predicted communicative QATs. Anxiety outcomes were most strongly predicted by difficulties with auditory and olfactory processing. CONCLUSIONS: The results support the clinical importance of being alert to complaints about sounds and hearing in neurodevelopmental populations, and that auditory processing difficulties may be evaluated as an early marker of poor mental health in children with and without diagnosed autism. Olfactory processing differences appeared to be an anxiety marker less strongly associated with ASC or QATs, while motor difficulties were highly autism-relevant but not equally strongly associated with anxiety outcomes. We suggest that future studies may focus on the mechanisms and consequences of neurodevelopmental central auditory processing dysfunction and its potential relationship to anxiety disorders.

[Anxiety disorders as comorbid conditions in neuropsychiatric diseases in children]. / Trevozhnye rasstroistva kak komorbidnye sostoyaniya pri psikhonevrologicheskikh zabolevaniyakh u detei.

The variants of heterotypic comorbidity of anxiety disorders (AD) with attention deficit hyperactivity disorder, autism spectrum disorders, speech and language development disorders, specific learning disabilities (dyslexia, dysgraphia, dyscalculia), migraine, tension type headache in children and adolescents are discussed. In cases of heterotypic comorbidity the patients with AD referrals to specialists may be primarily associated with their emotional problems. Meanwhile, the comorbidity of AD with these diseases leads to a deterioration of their clinical manifestations and a worsening of the prognosis, and anxiety symptoms often not only persist, but also increase with age. It should be borne in mind that AD in children with neurodevelopmental disorders contribute to a decrease in the quality of life, academic failure, have a negative impact on peer relationships and the family environment, and in young adulthood, patients have an increased risk of depression and substance abuse. Therefore, early intervention and a comprehensive therapeutic approach with a dynamic assessment of the patient's condition are becoming important. When choosing pharmacotherapy, it is advisable to choose medictions that have a complex effect on the pathogenetic mechanisms of the underlying disease and concomitant AD, which include Tenoten for children.

Caregivers' voices: From the world of autism spectrum disorder.

BACKGROUND:  Caring for a child with autism spectrum disorder (ASD) is a challenging and stressful task, especially in countries with limited resources. Additional research is necessary, considering the increasing prevalence of children with ASD, to gain increased knowledge of the complex difficulties faced by caregivers of ASD children and to offer insights into the coping strategies and support networks that parents utilise. OBJECTIVES:  The objective of this study was to explore and describe the experiences and coping mechanisms of caregivers of children with ASD in Dr Kenneth Kaunda district, North West province, South Africa. METHOD:  Qualitative explorative, contextual and descriptive design with purposive sampling technique and semi-structured interviews were conducted. Data were analysed following the six steps of reflexive thematic analysis. RESULTS:  Two themes were identified: Caregivers' experiences in raising a child with autism, and caregivers' coping in raising a child with autism. CONCLUSION:  The research established caregivers' experiences and coping mechanisms in raising a child with ASD and the effects on different aspects of their lives including emotional, social and financial aspects, which contribute negatively to their holistic well-being. These impediments warrant the establishment of emotional support groups, empowerment of caregivers and awareness-raising through campaigns to educate the family and the community on the diverse challenges.Contribution: The findings of this study contribute to a deeper understanding of the multifaceted challenges faced by caregivers of children with ASD and provide insights into the support systems and coping mechanisms employed by these caregivers within the socio-ecological context.

The profile of social communication in Dravet syndrome.

Dravet syndrome (DS) presents a multifaceted clinical picture marked by epilepsy, cognitive impairments and behavioral disorders that progresses throughout development. Behavioral disorders include impairments in social relationships and communication, with frequent diagnosis of autism spectrum disorder. This study focused on comprehensively evaluating and comparing social communication profiles among a group of 43 children with Dravet syndrome, 30 children with level 1 autism spectrum disorder, 36 with social (pragmatic) communication disorder, and 18 with intellectual disability. Using validated tools like the Childhood Autism Spectrum Test and Children's Communication Checklist, distinct patterns of social communication deficits were delineated. Our findings indicate that children with Dravet syndrome experience challenges in social relationships, primarily due to difficulties in use of pragmatic language. Areas such as range of interests and social interaction are less affected compared to those with ASD, emphasizing differing profiles between the conditions. While children with DS and ID may have similar intellectual functioning, the different social communication deficits in DS indicate their role in the DS phenotype beyond ID. These results underscore the unique social communication profile of DS and emphasizes the importance of tailored interventions and deep phenotyping efforts for effective DS management.

Phenotypic characteristics and rehabilitation effect of children with regressive autism spectrum disorder: a prospective cohort study.

BACKGROUND: In this prospective cohort study, we determined the phenotypic characteristics of children with regressive autism spectrum disorder (ASD) and explored the effects of rehabilitation. METHODS: We recruited 370 children with ASD aged 1.5-7 years. Based on the Regression Supplement Form, the children were assigned to two groups: regressive and non-regressive. The core symptoms and neurodevelopmental levels of ASD were assessed before and after 1 year of behavioral intervention using the Autism Diagnostic Observation Schedule (ADOS), Social Response Scale (SRS), Children Autism Rating Scale (CARS), and Gesell Developmental Scale (GDS). RESULTS: Among the 370 children with ASD, 28.38% (105/370) experienced regression. Regression was primarily observed in social communication and language skills. Children with regressive ASD exhibited higher SRS and CARS scores and lower GDS scores than those with non-regressive ASD. After 1 year of behavioral intervention, the symptom scale scores significantly decreased for all children with ASD; however, a lesser degree of improvement was observed in children with regressive ASD than in those with non-regressive ASD. In addition, the symptom scores of children with regressive ASD below 4 years old significantly decreased, whereas the scores of those over 4 years old did not significantly improve. Children with regressive ASD showed higher core symptom scores and lower neurodevelopmental levels. Nevertheless, after behavioral intervention, some symptoms exhibited significant improvements in children with regressive ASD under 4 years of age. CONCLUSION: Early intervention should be considered for children with ASD, particularly for those with regressive ASD.

A clinical-translational review of sleep problems in neurodevelopmental disabilities.

Sleep disorders are very common across neurodevelopmental disorders and place a large burden on affected children, adolescents, and their families. Sleep disturbances seem to involve a complex interplay of genetic, neurobiological, and medical/environmental factors in neurodevelopmental disorders. In this review, we discuss animal models of sleep problems and characterize their presence in two single gene disorders, Rett Syndrome, and Angelman Syndrome and two more commonly occurring neurodevelopmental disorders, Down Syndrome, and autism spectrum disorders. We then discuss strategies for novel methods of assessment using wearable sensors more broadly for neurodevelopmental disorders in general, including the importance of analytical validation. An increased understanding of the mechanistic contributions and potential biomarkers of disordered sleep may offer quantifiable targets for interventions that improve overall quality of life for affected individuals and their families.

Evaluating malocclusion patterns in children with autism spectrum disorder using the index of complexity, outcome and need: a cross-sectional study.

BACKGROUND: The purpose of this study was to evaluate the complexity of malocclusion and existing patterns in children with autism spectrum disorders (ASD) using the index of complexity, outcome and need (ICON). METHODS: This cross-sectional study included children diagnosed with ASD, aged 9-15 years. A group of healthy children with the same demographic characteristics was randomly selected as the control group. Malocclusion was assessed according to ICON scoring protocol. The following parameters were recorded: dental aesthetics, upper arch crowding/spacing, presence of crossbite, anterior-vertical relationship (open and deep bite) and buccal segment anterior-posterior relationship. Finally, an overall ICON score was derived and reported for each patient. Descriptive analysis was performed for all investigated variables. Significance level was set at p < 0.05. RESULTS: A total of 324 children, divided into ASD (162) and control (162) groups, comprised the study population. Our results demonstrated that the average overall ICON score was significantly higher in the ASD group compared to the control group (38.77 vs. 27.43, p < 0.001). ASD children also obtained significantly higher scores regarding the dental aesthetics component (3.84 vs 2.78, p < 0.001). Study groups were significantly different in terms of the prevalence of incisor overbite and open bite (p = 0.002 and p < 0.001, respectively). Patients in the ASD group showed a higher prevalence of Class II and Class III malocclusions (p < 0.001). CONCLUSION: ASD children obtained significantly higher overall ICON scores, indicating more complex and severe malocclusions. These children also exhibited a greater tendency towards Class II and III malocclusions.

Pattern of sleep disorders among children with autism spectrum disorder.

BACKGROUND: Sleep disorders (SDs) are among many co-morbid medical conditions that affect children with autism spectrum disorder (ASD). Raising awareness and improving the standard of care for children diagnosed with ASD may result from identifying SDs among them. This study aims to evaluate patterns of SDs among Sudanese children diagnosed with ASD. METHOD: Using the Childhood Sleep Habit Questionnaire (CSHQ) to gather data on sleep disorders and SPSS version 26.0 for data analysis, a descriptive cross-sectional study was carried out in the five main autistic centres in Khartoum state covering all registered patients with ASD between April and June 2022. Ninety-two children diagnosed with ASD were enrolled in this study after the purpose of the research was explained and consent was obtained from their guardians. A p-value < 0.05 was considered to indicate statistical significance. RESULTS: The mean age was 6.90 (± 2.6) years with a boys-to-girls ratio of 2.17:1. The prevalence of SDs (at least one sleep condition almost daily) was 95.65%. Sleep onset 71 (77.2%), limit setting 32 (32.6%), resistant onset to sleep 48 (52.2%), and combined 52 (56.5%) insomnia affected the majority of children. Additionally, there were significant associations between sex and Limit-setting insomnia, advanced sleep phase disorder, and narcolepsy type 2 (P values = 0.033, 0.009, and 0.037, respectively). Additionally, there was a significant association between age and sleep-related breathing disorders-snoring (p value = 0.031). CONCLUSION: The frequency of SDs is significant among children diagnosed with ASD from Sudan, and certain SDs are associated with age and sex. Subsequent studies are required to develop national guidelines for the prevalence, presentation, screening, and treatment of SDs in children diagnosed with ASD.

Microcephaly type 22 and autism spectrum disorder: A case report and review of literature.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with a multifaceted etiology. This case report explores the ischemic cryptogenic vascular dissection as a potential underlying cause of ASD. METHODS: A 9-year-old child presented with symptoms of ASD, including social interaction difficulties, repetitive behaviors, and cognitive challenges. Despite conventional ASD treatments, significant improvement was only observed after addressing an underlying ischemic cryptogenic vascular dissection identified through DCE-CT. RESULTS: Following a reconstructive treatment approach to the vascular dissection, the patient showed marked improvement in cognitive functions, social abilities, and a reduction in ASD-related symptoms whether during the perioperative period or during approximately 5-month follow-up. CONCLUSION: This case suggests that ischemic cryptogenic vascular dissection may contribute to the symptoms of ASD. Identifying and treating underlying vascular anomalies may offer a new avenue for mitigating ASD symptoms, emphasizing the need for comprehensive diagnostic estimations in ASD management.

Diagnostic overshadowing: self-injurious behaviour as a manifestation of pain in the head and neck.

In the healthcare domain, diagnostic overshadowing is a concerning issue involving the erroneous attribution of physical symptoms to a patient's mental health, behavioural intricacies, or pre-existing disabilities. Individuals facing learning and communication challenges are particularly susceptible to this phenomenon, struggling to articulate or comprehend their experienced symptoms. Likewise, patients with autism spectrum disorder can have an escalated risk due to possible challenges in interpreting bodily cues. This article delves into the specialised care required for individuals with learning disabilities and/or autism, highlighting the pervasive risk of diagnostic overshadowing and the potential manifestation of pain as self-injurious behaviour in these patient groups. By underscoring the need to mitigate diagnostic overshadowing within dental practice, we advocate for reasonable adjustments in care delivery and comprehensive education of the dental team. Proficient tools for pain assessment and effective communication are emphasised to collectively improve the healthcare experience for these vulnerable patient cohorts.

Shared symptomatology between atopic dermatitis, ADHD and autism spectrum disorder: a protocol for a systematic scoping review.

INTRODUCTION: Children with atopic dermatitis (AD) are more at risk for the neurodevelopmental disorders attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) with parallel increases in global prevalences. Children afflicted with these conditions appear to share similar problems in sensory modulation but investigational studies on the underlying aetiology are scarce. This scoping review aims to find knowledge gaps, collate hypotheses and to summarise available evidence on the shared pathophysiology of AD, ADHD and ASD in children. METHODS AND ANALYSIS: Our study will follow the methodological manual published by the Joanna Briggs Methodology for Scoping Reviews and will be reported in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews. The following electronic databases will be searched for studies focused on children with AD and symptoms of ADHD and/or ASD: Medline ALL via Ovid, Embase, Web of Science Core Collection and the Cochrane Central Register of Controlled Trials via Wiley. ETHICS AND DISSEMINATION: This review does not require ethics approval as it will not be conducted with human participants. We will only use published data. Our dissemination strategy includes peer review publication and conference reports.

Assessing the Impact of Bilingualism on the Linguistic Skills of Children with Autism Spectrum Disorder (ASD) in Greece: A Scoping Review.

(1) Background and Objectives: This review aims to identify the latest literature on the possible effect of bilingualism on the linguistic skills of children with autism spectrum disorder (ASD) residing in Greece. (2) Materials and Methods: The literature was searched in the databases of Scopus and PubMed by selecting articles and by reviewing four studies published in peer-reviewed journals. This Scoping Review is based on the standards of PRISMA recommendations for scoping reviews, while the PCC framework was used as a guide to construct clear and meaningful objectives and eligibility criteria. (3) Results: The publications included in the review addressed a variety of language-related skills, including morphology, the syntax-pragmatics interface, narrative ability, as well as both receptive and expressive language skills. (4) Conclusions: Three out of four studies provide evidence that bilingual ASD children are not disadvantaged compared to monolingual peers but rather enjoy some benefits, to a certain extent, due to bilingualism. However, the number of the reviewed studies as well as the limitations of the studies themselves render this conclusion tentative. Additionally, the findings set guidelines that speech therapists, educators, psychologists, and doctors in the Greek context need to follow when treating or educating bilingual children with ASD.

Sleep disturbances are associated with greater healthcare utilization in children with autism spectrum disorder.

BACKGROUND: Sleep disturbances are frequently reported in children with autism spectrum disorder (ASD) and are associated with the severity of co-occurring symptoms. This study's aim was to examine the extent of healthcare utilization and clinical outcomes associated with sleep disturbances in children with ASD. STUDY DESIGN: A retrospective, cross-sectional study of 541 children with ASD from the Azrieli National Center for Autism and Neurodevelopment Research (ANCAN) whose parents completed the Children's Sleep Habits Questionnaire (CSHQ). Children with a total CSHQ score ≥ 48 were defined as having sleep disturbances. Sociodemographic characteristics, ASD diagnostic measures, chronic co-occurring conditions, medication usage, hospitalizations, visits to the emergency room (ER), and visits to specialists were compared in ASD children with and without sleep disturbances. Multivariate logistic regression models were then used to assess the independent association of sleep disturbances with clinical characteristics and healthcare utilization. RESULTS: Of the 541 children with ASD, 257 (47.5%) had sleep disturbances. Children with sleep disturbances exhibited higher rates of multiple (≥ 3) co-occurring conditions (19.1% vs. 12.7%; p = 0.0414) and prescribed medications (45.5% vs. 32.7%; p = 0.0031) than other children. Finally, ASD children with sleep disturbances were 1.72 and 2.71 times more likely to visit the ER and be hospitalized than their counterparts (aOR = 1.72; 99%CI = 1.01-2.95; and aOR = 2.71; 99%CI = 1.10-6.67, respectively). CONCLUSIONS: Our findings suggest that sleep disturbances are associated with greater healthcare utilization among children with ASD. Further studies could examine whether treating sleep disturbances in children with ASD yields additional clinical benefits beyond improvements in sleep.

Risk of autism spectrum disorder in children with infantile epileptic spasms syndrome: a retrospective study in a single center in Brazil.

OBJECTIVE: This study aimed to investigate the prevalence of autism spectrum disorder and its possible correlations with clinical characteristics in patients with infantile epileptic spasms syndrome in a single center in Brazil. METHODS: This retrospective cross-sectional study examined 53 children with the diagnosis of infantile epileptic spasms syndrome prior to an autism spectrum disorder assessment. Participants were divided into two groups based on the presence or absence of autism spectrum disorder. Available variables (sex, medications, median age at onset of infantile epileptic spasms syndrome, and presence of comorbidities) were compared using Mann-Whitney U or chi-square tests. RESULTS: Among the included patients, 12 (23 %) were diagnosed with autism spectrum disorder, corresponding to a relative risk of 0.29 (95 % confidence interval 0.174-0.492). The age at the first seizure ranged from 3 to 15 months, with a mean of 6.65 months. This age significantly differed between participants with autism spectrum disorder (10.58 months) and those without (5.43 months), p<0.001. CONCLUSION: Children with infantile epileptic spasms syndrome have a higher risk of being diagnosed with autism spectrum disorder. Later age of onset and period of spasm occurrence might be predisposing risk factors.

[Tooth decay and autism spectrum disorders in children: is there a connection?] / Karies zubov i rasstroistva autisticheskogo spektra u detei: est' li svyaz'?

OBJECTIVE: The study of caries lesions of children 7 and 12 years old with different degrees of severity of autism and concomitant intellectual disabilities, in comparison with a control group of neurotypical patients of similar age. MATERIALS AND METHODS: The main study group included children with ASD ages 7 and 12 (n=214), and the comparison group included neurotypical children of the same age (n=140). To assess the incidence of dental caries, indicators of the prevalence and intensity of the process were used. RESULTS: The prevalence of dental caries in children with ASD is lower than in the comparison group or comparable. The average caries prevalence was found in the 7- and 12-year-old groups in children with mild autism without concomitant intellectual deficits (80.89±3.40 and 76.65±4.24, respectively). In children with severe and extremely severe autism, regardless of the presence of intellectual disability, the prevalence of dental caries was high in both age groups, which is comparable with the same indicator and age of neurotypical children. Moreover, both age groups of neurotypical children were also comparable in caries prevalence (89.67±1.65 and 90.32±1.20 respectively). Caries intensity did not seem to be related to years of autistic disorder (significantly lower in the group of 12-year-old children with ASD, compared to 7-year-olds). Caries intensity in children with ASD increased with increasing severity of autism and concomitant intellectual disability. CONCLUSION: Further comprehensive studies in terms of included variables are needed to identify contributing factors (impact of family socioeconomic opportunities, increased parental care, etc.).