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1.
Autism Res ; 17(4): 785-798, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38563047

RESUMEN

Though visuospatial skills are often considered a relative strength in autism spectrum disorder (ASD), unexplained difficulties relative to neurotypical (NT) peers have also been observed. Dissociations between spatial cognition and language skills in ASD may explain these difficulties given that these systems are linked in NT individuals. The current study examined performance on a mental rotation task that systematically varied stimulus features and the degree to which performance was associated with language in ASD relative to NT peers. Participants were children and young adults with ASD and 25 pairwise age- and IQ-matched NT peers (p's>0.53). The mental rotation task involved four conditions: two-dimensional (2D) abstract figures, three-dimensional (3D) abstract figures, 2D common objects, and 3D common objects. Structural language was measured using the grammar subscale from the Test of Language Development: Intermediate adapted for Norwegian. Mixed-effects model results indicated that autistic individuals were less accurate and had slower reaction time across mental rotation task conditions than NT peers. Language was associated with mental rotation accuracy for both groups across conditions, but with reaction time only for the NT group. The current study demonstrated selective associations between language and performance on a classic spatial cognition task in autistic individuals. Namely, there was a dissociation between language and in-the-moment efficiency in the ASD group, and this dissociation may reflect a broader dissociation between visuospatial and language systems.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Niño , Adulto Joven , Humanos , Trastorno del Espectro Autista/complicaciones , Lenguaje , Cognición , Trastorno Autístico/complicaciones , Lingüística
2.
J Psychiatr Res ; 173: 363-366, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38593694

RESUMEN

In the last decades, growing caseness for Autism Spectrum Disorder (ASD) has been observed, owing to the diagnostic accretion of low-impairment forms, over and above other possible causes. Unrecognized ASD is likely to be mislabeled as a psychotic disorder (PD), as people in the spectrum may show 'pseudopsychotic' symptoms, resembling both negative and positive symptoms. On the other hand, PDs are likely to be overlooked when they arise in people with ASD, due to the 'diagnostic overshadowing' of new-onset conditions by lifelong core autistic symptoms. The three available metanalyses on the occurrence of psychosis in adults with ASD convergently reported a rate of PDs that is at least ten times higher than in the general population. Therefore, the lack of literature addressing risk factors, outcomes, and treatment options for psychosis in the context of ASD is utterly concerning. The present review aims to summarize up-to-date knowledge of PDs with comorbid ASD in terms of clinical features, course, and treatment.


Asunto(s)
Trastorno del Espectro Autista , Trastornos Psicóticos , Adulto , Humanos , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/terapia , Trastornos Psicóticos/epidemiología , Trastornos Psicóticos/terapia , Trastornos Psicóticos/diagnóstico , Imaginación
3.
J Neurodev Disord ; 16(1): 15, 2024 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-38622540

RESUMEN

BACKGROUND: Neurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of inherited and de novo genetic differences, with marked physiological and behavioral impacts. We currently know little about the psychiatric phenotypes of rare genetic variants associated with ASD, despite heightened risk of psychiatric concerns in ASD more broadly. Understanding behavioral features of these variants can identify shared versus specific phenotypes across gene groups, facilitate mechanistic models, and provide prognostic insights to inform clinical practice. In this paper, we evaluate behavioral features within three gene groups associated with ID and ASD - ADNP, CHD8, and DYRK1A - with two aims: (1) characterize phenotypes across behavioral domains of anxiety, depression, ADHD, and challenging behavior; and (2) understand whether age and early developmental milestones are associated with later mental health outcomes. METHODS: Phenotypic data were obtained for youth with disruptive variants in ADNP, CHD8, or DYRK1A (N = 65, mean age = 8.7 years, 40% female) within a long-running, genetics-first study. Standardized caregiver-report measures of mental health features (anxiety, depression, attention-deficit/hyperactivity, oppositional behavior) and developmental history were extracted and analyzed for effects of gene group, age, and early developmental milestones on mental health features. RESULTS: Patterns of mental health features varied by group, with anxiety most prominent for CHD8, oppositional features overrepresented among ADNP, and attentional and depressive features most prominent for DYRK1A. For the full sample, age was positively associated with anxiety features, such that elevations in anxiety relative to same-age and same-sex peers may worsen with increasing age. Predictive utility of early developmental milestones was limited, with evidence of early language delays predicting greater difficulties across behavioral domains only for the CHD8 group. CONCLUSIONS: Despite shared associations with autism and intellectual disability, disruptive variants in ADNP, CHD8, and DYRK1A may yield variable psychiatric phenotypes among children and adolescents. With replication in larger samples over time, efforts such as these may contribute to improved clinical care for affected children and adolescents, allow for earlier identification of emerging mental health difficulties, and promote early intervention to alleviate concerns and improve quality of life.


Asunto(s)
Trastorno del Espectro Autista , Discapacidad Intelectual , Trastornos del Neurodesarrollo , Adolescente , Niño , Femenino , Humanos , Masculino , Trastorno del Espectro Autista/complicaciones , Proteínas de Unión al ADN/genética , Proteínas de Homeodominio/genética , Discapacidad Intelectual/genética , Discapacidad Intelectual/complicaciones , Salud Mental , Proteínas del Tejido Nervioso/genética , Trastornos del Neurodesarrollo/genética , Trastornos del Neurodesarrollo/complicaciones , Calidad de Vida , Factores de Transcripción/genética
4.
J Contemp Dent Pract ; 25(1): 20-28, 2024 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-38514427

RESUMEN

AIM: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by unique behavioral patterns, treating children with ASD in the dental clinic has been a great challenge due to their behavior. This study aims to determine the effectiveness of culturally adapted dental visual aids in modifying behavior patterns during dental visits in children with ASD. MATERIALS AND METHODS: A controlled, blinded, randomized, clinical trial, with 64 children diagnosed with ASD, were randomly divided into two groups. The study took place between January 2019 and January 2021. The experimental group was provided with culturally adapted dental visual aids created especially for this research and the control group was provided with universal dental visual aids. The children's behavior patterns were evaluated before and after using the dental visual aids. SPSS v.25 was used to process all the data. RESULTS: Behavior patterns have modified significantly in the experimental group (p < 0.001) however, it was statistically insignificant in the control group (p = 0.077). In terms of behavioral patterns, the experimental group outperformed the control group significantly (p < 0.001). CONCLUSION: The culturally adapted dental visual aids have shown effectiveness in modifying behavior patterns in children diagnosed with ASD during dental visits. CLINICAL SIGNIFICANCE: By evaluating the impact of culturally adapted visual aids on behavior management, the study can enhance the accessibility and effectiveness of dental care for this vulnerable population, ultimately promoting better oral health outcomes and reducing potential trauma associated with dental visits for children with ASD. How to cite this article: Aljubour AA, AbdElBaki M, El Meligy O, et al. Culturally Adapted Dental Visual Aids Effect on Behavior Management during Dental Visits in Children with Autism Spectrum Disorder. J Contemp Dent Pract 2024;25(1):20-28.


Asunto(s)
Trastorno del Espectro Autista , Niño , Humanos , Recursos Audiovisuales , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/terapia , Conducta Infantil , Método Doble Ciego
5.
J Neurodev Disord ; 16(1): 11, 2024 Mar 18.
Artículo en Inglés | MEDLINE | ID: mdl-38500028

RESUMEN

BACKGROUNDS: Social skills are frequently impaired in neurodevelopmental disorders and genetic conditions, including 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). Although often assessed with questionnaires, direct assessment provides a more valid estimate of the constructs. Role-plays (i.e., simulates situational settings) therefore appear to be an appropriate indicator of social skills in daily life. METHODS: This co-registered study involved 53 individuals with 22q11DS, 34 individuals with ASD, and 64 typically developing (TD) peers aged 12-30 years. All participants were assessed with role-plays as well as parent-reported questionnaires and clinical interviews focusing on social skills, functioning and anxiety. RESULTS: Both clinical groups showed impaired social skills compared to TD, but distinct social profiles emerged between the groups. Individuals with 22q11DS displayed higher social appropriateness and clarity of speech but weaker general argumentation and negotiation skills, with the opposite pattern observed in participants with ASD. No association was found between social skills measured by direct observation and caregiver reports. Social anxiety, although higher in clinical groups than in TD, was not associated with role-plays. CONCLUSIONS: This study highlights the need to train social skills through tailored interventions to target the specific difficulties of each clinical population. It also highlights the importance of combining measures as they do not necessarily provide the same outcome.


Asunto(s)
Trastorno del Espectro Autista , Síndrome de DiGeorge , Trastornos del Neurodesarrollo , Humanos , Adolescente , Adulto Joven , Habilidades Sociales , Síndrome de DiGeorge/complicaciones , Trastorno del Espectro Autista/complicaciones , Ansiedad
6.
J Neurodev Disord ; 16(1): 12, 2024 Mar 20.
Artículo en Inglés | MEDLINE | ID: mdl-38509470

RESUMEN

BACKGROUND: Specifying early developmental differences among neurodevelopmental disorders with distinct etiologies is critical to improving early identification and tailored intervention during the first years of life. Recent studies have uncovered important differences between infants with fragile X syndrome (FXS) and infants with familial history of autism spectrum disorder who go on to develop autism themselves (FH-ASD), including differences in brain development and behavior. Thus far, there have been no studies longitudinally investigating differential developmental skill profiles in FXS and FH-ASD infants. METHODS: The current study contrasted longitudinal trajectories of verbal (expressive and receptive language) and nonverbal (gross and fine motor, visual reception) skills in FXS and FH-ASD infants, compared to FH infants who did not develop ASD (FH-nonASD) and typically developing controls. RESULTS: Infants with FXS showed delays on a nonverbal composite compared to FH-ASD (as well as FH-nonASD and control) infants as early as 6 months of age. By 12 months an ordinal pattern of scores was established between groups on all domains tested, such that controls > FH-nonASD > FH-ASD > FXS. This pattern persisted through 24 months. Cognitive level differentially influenced developmental trajectories for FXS and FH-ASD. CONCLUSIONS: Our results demonstrate detectable group differences by 6 months between FXS and FH-ASD as well as differential trajectories on each domain throughout infancy. This work further highlights an earlier onset of global cognitive delays in FXS and, conversely, a protracted period of more slowly emerging delays in FH-ASD. Divergent neural and cognitive development in infancy between FXS and FH-ASD contributes to our understanding of important distinctions in the development and behavioral phenotype of these two groups.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Síndrome del Cromosoma X Frágil , Lactante , Humanos , Síndrome del Cromosoma X Frágil/complicaciones , Síndrome del Cromosoma X Frágil/psicología , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/psicología , Lenguaje , Cognición
7.
Turk J Pediatr ; 66(1): 57-64, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38523379

RESUMEN

BACKGROUND: Gastrointestinal system disorders are known to be prevalent among children with autism spectrum disorder (ASD). Some ASD-associated comorbidities are abdominal pain, constipation, diarrhea, gastroesophageal reflux, sleep disturbances, epilepsy, and psychiatric problems. Nonetheless, there is still limited information about the presence of functional GI disorders (FGIDs) among children with ASD, especially in Türkiye. Using the Rome criteria, we aimed to investigate FGIDs in children with ASD. METHODS: The sample of the study consisted of 68 children aged 4-10 years, diagnosed with ASD according to the DSM-5 diagnostic criteria and had scores greater than 30 on the Childhood Autism Rating Scale (CARS-2) and an age-sex matched control group (n=78). The Rome III criteria were used to evaluate FGIDs. RESULTS: The frequency of FGIDs in the ASD group was higher (76.5%) compared to the control group (p < 0.001). Compared to the control group, abdominal migraine frequency increased 10 times (p=0.012), functional constipation 7 times (p < 0.001), and fecal incontinence 6 times (p < 0.001) in the ASD group. Stool retention was not present in most children in the ASD group who were found to have fecal incontinence. CONCLUSION: In this study, the most common FGIDs in the ASD group were abdominal migraine, functional constipation, and non-retentive fecal incontinence. The finding that most children with ASD who had fecal incontinence did not show stool retention implicated social, psychological, and behavioral factors as the causes of incontinence. Raising awareness of healthcare professionals about the frequency of FGIDs in children with ASD will improve many areas in the daily lives of these children.


Asunto(s)
Trastorno del Espectro Autista , Incontinencia Fecal , Enfermedades Gastrointestinales , Trastornos Migrañosos , Niño , Humanos , Incontinencia Fecal/complicaciones , Incontinencia Fecal/diagnóstico , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Enfermedades Gastrointestinales/diagnóstico , Enfermedades Gastrointestinales/epidemiología , Enfermedades Gastrointestinales/complicaciones , Estreñimiento/epidemiología , Estreñimiento/etiología , Trastornos Migrañosos/complicaciones
8.
J Neurodev Disord ; 16(1): 13, 2024 Mar 27.
Artículo en Inglés | MEDLINE | ID: mdl-38539105

RESUMEN

BACKGROUND: Global developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. Next-generation sequencing (NGS) techniques have improved the identification of pathogenic variants and genes related to developmental delay. This study aimed to evaluate the yield of whole exome sequencing (WES) and neurodevelopmental disorder gene panel sequencing in a pediatric cohort from Ukraine. Additionally, the study computationally predicted the effect of variants of uncertain significance (VUS) based on recently published genetic data from the country's healthy population. METHODS: The study retrospectively analyzed WES or gene panel sequencing findings of 417 children with global developmental delay, intellectual disability, and/or other symptoms. Variants of uncertain significance were annotated using CADD-Phred and SIFT prediction scores, and their frequency in the healthy population of Ukraine was estimated. RESULTS: A definitive molecular diagnosis was established in 66 (15.8%) of the individuals. WES diagnosed 22 out of 37 cases (59.4%), while the neurodevelopmental gene panel identified 44 definitive diagnoses among the 380 tested patients (12.1%). Non-diagnostic findings (VUS and carrier) were reported in 350 (83.2%) individuals. The most frequently diagnosed conditions were developmental and epileptic encephalopathies associated with severe epilepsy and GDD/ID (associated genes ARX, CDKL5, STXBP1, KCNQ2, SCN2A, KCNT1, KCNA2). Additionally, we annotated 221 VUS classified as potentially damaging, AD or X-linked, potentially increasing the diagnostic yield by 30%, but 18 of these variants were present in the healthy population of Ukraine. CONCLUSIONS: This is the first comprehensive study on genetic causes of GDD/ID conducted in Ukraine. This study provides the first comprehensive investigation of the genetic causes of GDD/ID in Ukraine. It presents a substantial dataset of diagnosed genetic conditions associated with GDD/ID. The results support the utilization of NGS gene panels and WES as first-line diagnostic tools for GDD/ID cases, particularly in resource-limited settings. A comprehensive approach to resolving VUS, including computational effect prediction, population frequency analysis, and phenotype assessment, can aid in further reclassification of deleterious VUS and guide further testing in families.


Asunto(s)
Trastorno del Espectro Autista , Epilepsia , Discapacidad Intelectual , Niño , Humanos , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/genética , Discapacidad Intelectual/diagnóstico , Pruebas Genéticas/métodos , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/genética , Trastorno del Espectro Autista/complicaciones , Estudios Retrospectivos , Epilepsia/complicaciones , Canales de potasio activados por Sodio/genética , Proteínas del Tejido Nervioso/genética
9.
Medicina (Kaunas) ; 60(3)2024 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-38541214

RESUMEN

Background and Objectives: A limited understanding exists regarding the intricate dynamics between the levels of social inhibition exhibited by both wives and husbands concerning their perceived family support and depressive symptoms, particularly within couples who are parents of children diagnosed with autism spectrum disorder (ASD). Materials and Methods: This study used the actor-partner interdependence mediation model to analyze data collected from 397 pairs of Chinese parents with children diagnosed with ASD. Results: The findings of the study revealed significant indirect actor effects, indicating that the levels of social inhibition exhibited by both wives and husbands were associated with their own depressive symptoms through their respective perceptions of family support. In general, the study did not find significant partner effects, except for some indirect effects of wives on their husbands' depressive symptoms through the wives' perceived social support. Conclusions: In line with related studies, social inhibition was associated with depressive symptoms. At the same time, perceived family support could be a mediator of depression. Gender differences in emotional expression, influenced by cultural norms and distinct role expectations within the family context, may elucidate why only wives' perceived family support could impact husbands' depressive symptoms. These results underscore the potential importance of interventions aimed at addressing social inhibition and enhancing perceived family support to alleviate depressive symptoms in this population. Additionally, encouraging family support for both wives and husbands' involvement in collaboration may be of benefit in improved outcomes for both parents and children within families affected by ASD.


Asunto(s)
Trastorno del Espectro Autista , Depresión , Niño , Humanos , Depresión/psicología , Apoyo Familiar , Trastorno del Espectro Autista/complicaciones , Esposos/psicología , Apoyo Social
10.
Rev Med Virol ; 34(3): e2532, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38549138

RESUMEN

Cytomegalovirus (CMV) belongs to the Herpesviridae family and is also known as human herpesvirus type 5. It is a common virus that usually doesn't cause any symptoms in healthy individuals. However, once infected, the virus remains in the host's body for life and can reactivate when the host's immune system weakens. This virus has been linked to several neurological disorders, including Alzheimer's disease, Parkinson's disease, Autism spectrum disorder, Huntington's disease (HD), ataxia, Bell's palsy (BP), and brain tumours, which can cause a wide range of symptoms and challenges for those affected. CMV may influence inflammation, contribute to brain tissue damage, and elevate the risk of moderate-to-severe dementia. Multiple studies suggest a potential association between CMV and ataxia in various conditions, including Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, acute cerebellitis, etc. On the other hand, the evidence regarding CMV involvement in BP is conflicting, and also early indications of a link between CMV and HD were challenged by subsequent research disproving CMV's presence. This systematic review aims to comprehensively investigate any link between the pathogenesis of CMV and its potential role in neurological disorders and follows the preferred reporting items for systematic review and meta-analysis checklist. Despite significant research into the potential links between CMV infection and various neurological disorders, the direct cause-effect relationship is not fully understood and several gaps in knowledge persist. Therefore, continued research is necessary to gain a better understanding of the role of CMV in neurological disorders and potential treatment avenues.


Asunto(s)
Trastorno del Espectro Autista , Infecciones por Citomegalovirus , Enfermedades del Sistema Nervioso , Humanos , Trastorno del Espectro Autista/complicaciones , Infecciones por Citomegalovirus/diagnóstico , Citomegalovirus/fisiología , Enfermedades del Sistema Nervioso/etiología , Ataxia/complicaciones
11.
Sleep Med ; 117: 99-106, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38522116

RESUMEN

OBJECTIVES: This study aimed to identify sleep quality profiles of children with autism spectrum disorder (ASD), to compare these profiles with those of typically developing (TD) children, and to verify whether there are differences between them in terms of language skills. METHODS: We evaluated the sleep quality and language skills of 47 children with ASD without intellectual disability (ID) and 32 children with TD. Using a hierarchical cluster analysis, we identified two sleep quality ASD profiles (poor and good). We then performed a series of MANCOVAs and ANOVAs to compare the sleep quality and language skills of the two ASD clusters and the TD group. RESULTS: A main group effect (TD, "poor" cluster, and "good" cluster) was found in the total sleep quality and all its dimensions. Significant differences were revealed between the "good" and "poor" clusters in the total structural language score (F1,46 = 10.75, p < 0.001) and three of its subscales (speech: F1,46 = 9.19, p < 0.001; syntax, F1,46 = 8.61, p = 0.001; coherence: F1,46 = 11.36, p < 0.001); the total pragmatic language score (F1,46 = 7.00, p = 0.001) and three of its subscales (inappropriate initiation: F1,46 = 8.02, p = 0.001; use of context: F1,46 = 8.07, p = 0.001; nonverbal communication: F1,46 = 7.35, p = 0.001); and the social relations score (F1,46 = 9.97, p = 0.003). CONCLUSIONS: Sleep quality in children with ASD (especially a subgroup) is worse than in children with TD. There is an association between sleep quality and language skills, both at the pragmatic and structural levels.


Asunto(s)
Trastorno del Espectro Autista , Discapacidad Intelectual , Trastornos del Desarrollo del Lenguaje , Niño , Humanos , Trastorno del Espectro Autista/complicaciones , Discapacidad Intelectual/complicaciones , Calidad del Sueño , Trastornos del Desarrollo del Lenguaje/complicaciones , Lenguaje
12.
Pediatr Neurol ; 154: 1-3, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38428335

RESUMEN

BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder. Unique ASD subtypes have been proposed based on specific genotype-phenotype combinations. The ASD subtype associated with various chromodomain helicase DNA-binding protein 8 (CHD8) mutations has been associated with an incidence of autistic regression greater than that of all-cause ASD, but the mean age of onset of this subtype remains unknown. METHODS: Here we describe a patient with a known de novo CHD8 gene mutation (heterozygous c.2565del) who experienced a profound developmental regression and neurocognitive decline at age 13 years following periods of acute viral illness. RESULTS: The patient developed treatment-refractory catatonia and self-injurious behaviors leading to marked facial disfigurement. Unfortunately, interventions with immunomodulatory medications, psychotropic medications, and electroconvulsive therapy did not lead to sustained symptom improvement or a full return to baseline. CONCLUSIONS: Our case demonstrates a clinical scenario in which a devastating developmental regression and neurocognitive decline occurred with profound accentuation of previously identified autistic features at an age atypical for autistic regression, following sequential viral infections, thereby raising the question of whether immune dysregulation may be a contributing factor. Regression in patients with monogenic mutations in the CHD8 gene warrants further study to elucidate the mechanisms of illness and the anticipated developmental trajectory.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Niño , Humanos , Adolescente , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/genética , Trastorno Autístico/complicaciones , Mutación/genética , Proteínas de Unión al ADN/genética , Factores de Transcripción/genética
13.
BMC Pediatr ; 24(1): 200, 2024 Mar 21.
Artículo en Inglés | MEDLINE | ID: mdl-38515059

RESUMEN

BACKGROUND: The results of disparate clinical studies indicate abnormally frequent cases of certain microorganisms in children with autism spectrum disorders (ASD). However, these data require clarification and systematization. The study aims to study the structure of the microbial profile in children with ASD and genetic folate cycle deficiency (GFCD) and consider differences in diagnostic approaches for identifying microorganisms of different types. METHODS: The study analyzed medical data from 240 children (187 boys and 63 girls) with GFCD aged 2 to 9 years. The children had clinical manifestations of ASD (the study group, SG). The control group (CG) included 53 clinically healthy children (37 boys and 16 girls) of the same age but without GFCD. Both groups of children were tested on active herpetic infections (HSV-1/2, VZV, EBV, CMV, HHV-6, HHV-7, HHV-8), ТТV, Streptococcus pyogenes, Candida albicans, Borrelia burgdorferi, Mycoplasma pneumoniae, Chlamydia pneumoniae, Yersinia enterocolitica, Toxoplasma gondii, congenital CMV neuroinfection and postnatal HSV-1/2 encephalitis. The testing used diagnostic methods specified in PubMed-indexed studies. RESULTS: In the SG, TTV was found in 196 children (82%), HHV-7 - in 172 (72%), HHV-6 - in 162 (68%), EBV - in 153 (64%), Streptococcus pyogenes - in 127 (53%), Candida albicans - in 116 (48%), Borrelia - in 107 (45%), Mycoplasma pneumoniae - in 94 (39%), Chlamydia pneumoniae - in 85 (35%), Yersinia entеrocolitica - in 71 (30%), Toxoplasma gondii - in 54 (23%), congenital CMV neuroinfection - in 26 (11%), and postnatal HSV-1/2 encephalitis - in 11 children (5% of cases) (p < p0.05; Z < Z0.05). In the SG, there was a higher microbial load in older children (p < p0.05; Z < Z0.05). No gender differences were found. CONCLUSIONS: The study described and characterized a specific abnormal microbial spectrum with a predominance of viral opportunistic agents in children with ASD associated with GFCD.


Asunto(s)
Trastorno del Espectro Autista , Infecciones por Citomegalovirus , Encefalitis , Infecciones por Herpesviridae , Herpesvirus Humano 6 , Masculino , Niño , Femenino , Humanos , Infecciones por Herpesviridae/diagnóstico , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Herpesvirus Humano 6/genética , Ácido Fólico
14.
Autism Res ; 17(3): 610-625, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38450955

RESUMEN

Youth diagnosed with autism spectrum disorder (ASD) and those with developmental coordination disorder (DCD) are at heightened risk for co-occurring mental health diagnoses, especially anxiety and attention-deficit/hyperactivity disorder (ADHD). However, caregiver-child agreement on presence of related symptoms in populations with neurodevelopmental conditions is not well understood. Here, we examine the extent to which 37 ASD, 26 DCD, and 40 typically developing children and their caregivers agree on the degree of the child's symptoms of anxiety and ADHD. All caregiver-child dyads completed the Screen for Child Anxiety Related Emotional Disorders and Conners 3 ADHD Index. Across groups, intraclass correlations indicated generally poor agreement on anxiety and ADHD symptomatology. Although youth generally reported greater internalizing symptoms (i.e., anxiety), caregivers tended to report more observable externalizing behaviors (i.e., ADHD). Together, the results of this study support the need for a multi-informant approach in assessments of anxiety and ADHD in youth with neurodevelopmental disorders.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Trastornos de la Destreza Motora , Humanos , Adolescente , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/psicología , Cuidadores , Trastornos de la Destreza Motora/diagnóstico , Trastornos de Ansiedad/psicología , Ansiedad/complicaciones , Ansiedad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/psicología
15.
Artículo en Inglés | MEDLINE | ID: mdl-38442071

RESUMEN

The Psychiatric Consultation Service at Massachusetts General Hospital sees medical and surgical inpatients with comorbid psychiatric symptoms and conditions. During their twice-weekly rounds, Dr Stern and other members of the Consultation Service discuss diagnosis and management of hospitalized patients with complex medical or surgical problems who also demonstrate psychiatric symptoms or conditions. These discussions have given rise to rounds reports that will prove useful for clinicians practicing at the interface of medicine and psychiatry.Prim Care Companion CNS Disord 2024;26(2):23f03584.Author affiliations appear at the end of this article.


Asunto(s)
Trastorno del Espectro Autista , Psiquiatría , Humanos , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/terapia , Hospitales Generales , Pacientes Internos , Derivación y Consulta
16.
Nutr J ; 23(1): 27, 2024 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-38419087

RESUMEN

BACKGROUND: Dietary and gastrointestinal (GI) problems have been frequently reported in autism spectrum disorder (ASD). However, the relative contributions of autism-linked traits to dietary and GI problems in children with ASD are poorly understood. This study firstly compared the dietary intake and GI symptoms between children with ASD and typically developing children (TDC), and then quantified the relative contributions of autism-linked traits to dietary intake, and relative contributions of autism-linked traits and dietary intake to GI symptoms within the ASD group. METHODS: A sample of 121 children with ASD and 121 age-matched TDC were eligible for this study. The dietary intake indicators included food groups intakes, food variety, and diet quality. The autism-linked traits included ASD symptom severity, restricted repetitive behaviors (RRBs), sensory profiles, mealtime behaviors, and their subtypes. Linear mixed-effects models and mixed-effects logistic regression models were used to estimate the relative contributions. RESULTS: Children with ASD had poorer diets with fewer vegetables/fruits, less variety of food, a higher degree of inadequate/unbalanced dietary intake, and more severe constipation/total GI symptoms than age-matched TDC. Within the ASD group, compulsive behavior (a subtype of RRBs) and taste/smell sensitivity were the only traits associated with lower vegetables and fruit consumption, respectively. Self-injurious behavior (a subtype of RRBs) was the only contributing trait to less variety of food. Limited variety (a subtype of mealtime behavior problems) and ASD symptom severity were the primary and secondary contributors to inadequate dietary intake, respectively. ASD symptom severity and limited variety were the primary and secondary contributors to unbalanced dietary intake, respectively. Notably, unbalanced dietary intake was a significant independent factor associated with constipation/total GI symptoms, and autism-linked traits manifested no contributions. CONCLUSIONS: ASD symptom severity and unbalanced diets were the most important contributors to unbalanced dietary intake and GI symptoms, respectively. Our findings highlight that ASD symptom severity and unbalanced diets could provide the largest benefits for the dietary and GI problems of ASD if they were targeted for early detection and optimal treatment.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Enfermedades Gastrointestinales , Niño , Humanos , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/complicaciones , Trastorno Autístico/complicaciones , Enfermedades Gastrointestinales/epidemiología , Estreñimiento/epidemiología , Frutas , Verduras , Ingestión de Alimentos
17.
Nutrients ; 16(4)2024 Feb 17.
Artículo en Inglés | MEDLINE | ID: mdl-38398876

RESUMEN

Epilepsy often occurs with other neurological disorders, such as autism, affective disorders, and cognitive impairment. Research indicates that many neurological disorders share a common pathophysiology of dysfunctional energy metabolism, neuroinflammation, oxidative stress, and gut dysbiosis. The past decade has witnessed a growing interest in the use of metabolic therapies for these disorders with or without the context of epilepsy. Over one hundred years ago, the high-fat, low-carbohydrate ketogenic diet (KD) was formulated as a treatment for epilepsy. For those who cannot tolerate the KD, other diets have been developed to provide similar seizure control, presumably through similar mechanisms. These include, but are not limited to, the medium-chain triglyceride diet, low glycemic index diet, and calorie restriction. In addition, dietary supplementation with ketone bodies, polyunsaturated fatty acids, or triheptanoin may also be beneficial. The proposed mechanisms through which these diets and supplements work to reduce neuronal hyperexcitability involve normalization of aberrant energy metabolism, dampening of inflammation, promotion of endogenous antioxidants, and reduction of gut dysbiosis. This raises the possibility that these dietary and metabolic therapies may not only exert anti-seizure effects, but also reduce comorbid disorders in people with epilepsy. Here, we explore this possibility and review the clinical and preclinical evidence where available.


Asunto(s)
Trastorno del Espectro Autista , Disfunción Cognitiva , Dieta Cetogénica , Epilepsia , Humanos , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/terapia , Disbiosis , Epilepsia/complicaciones , Epilepsia/terapia , Dieta Baja en Carbohidratos , Cuerpos Cetónicos , Disfunción Cognitiva/terapia , Trastornos del Humor
18.
Autism Res ; 17(2): 419-431, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-38348589

RESUMEN

Speech ability may limit spoken language development in some minimally verbal autistic children. In this study, we aimed to determine whether an acoustic measure of speech production, vowel distinctiveness, is concurrently related to expressive language (EL) for autistic children. Syllables containing the vowels [i] and [a] were recorded remotely from 27 autistic children (4;1-7;11) with a range of spoken language abilities. Vowel distinctiveness was calculated using automatic formant tracking software. Robust hierarchical regressions were conducted with receptive language (RL) and vowel distinctiveness as predictors of EL. Hierarchical regressions were also conducted within a High EL and a Low EL subgroup. Vowel distinctiveness accounted for 29% of the variance in EL for the entire group, RL for 38%. For the Low EL group, only vowel distinctiveness was significant, accounting for 38% of variance in EL. Conversely, in the High EL group, only RL was significant and accounted for 26% of variance in EL. Replicating previous results, speech production and RL significantly predicted concurrent EL in autistic children, with speech production being the sole significant predictor for the Low EL group and RL the sole significant predictor for the High EL group. Further work is needed to determine whether vowel distinctiveness longitudinally, as well as concurrently, predicts EL. Findings have important implications for the early identification of language impairment and in developing language interventions for autistic children.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Trastornos del Lenguaje , Niño , Humanos , Trastorno Autístico/complicaciones , Trastorno del Espectro Autista/complicaciones , Lenguaje , Habla , Fonética
19.
J Atten Disord ; 28(7): 1092-1104, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38353406

RESUMEN

OBJECTIVE: Verbal fluency, the capacity to generate words from a designated category, predicts myriad cognitive and life outcomes. The study investigated verbal fluency in children with ADHD, autism spectrum disorder (ASD), and comorbid ADHD and ASD, to understand how ADHD- and ASD-related symptoms individually and jointly predict verbal fluency, and the underlying linguistic and cognitive substrates. METHOD: Thirty-three school-aged children with ADHD, 27 with ASD, 25 with comorbid ADHD and ASD, and 39 with typical development, were assessed for ADHD and ASD symptoms and completed a semantic verbal fluency task. RESULTS: Findings indicated that ADHD and ASD symptoms, especially ADHD hyperactivity-impulsivity symptoms and language-related ASD symptoms, interactively predicted verbal fluency across diagnostic groups. CONCLUSION: The study implicated the potential cognitive and linguistic mechanisms underlying verbal fluency differences in ADHD and/or ASD, and clinical practices on enhancing verbal fluency in these clinical groups.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Niño , Humanos , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Comorbilidad
20.
Autism Res ; 17(3): 650-667, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38415400

RESUMEN

Intellectual disability (ID) commonly co-occurs in children with autism. Although diagnostic criteria for ID require impairments in both cognitive and adaptive functioning, most population-based estimates of the frequency of co-occurring ID in children with autism-including studies of racial and ethnic disparities in co-occurring autism and ID-base the definition of ID solely on cognitive scores. The goal of this analysis was to examine the effect of including both cognitive and adaptive behavior criteria on estimates of co-occurring ID in a well-characterized sample of 2- to 5-year-old children with autism. Participants included 3264 children with research or community diagnoses of autism enrolled in the population-based Study to Explore Early Development (SEED) phases 1-3. Based only on Mullen Scales of Early Learning (MSEL) composite cognitive scores, 62.9% (95% confidence interval [CI]: 61.1, 64.7%) of children with autism were estimated to have co-occurring ID. After incorporating Vineland Adaptive Behavior Scales, Second Edition (VABS-II) composite or domains criteria, co-occurring ID estimates were reduced to 38.0% (95% CI: 36.2, 39.8%) and 45.0% (95% CI: 43.1, 46.9%), respectively. The increased odds of meeting ID criteria observed for non-Hispanic (NH) Black and Hispanic children relative to NH White children when only MSEL criteria were used were substantially reduced, though not eliminated, after incorporating VABS-II criteria and adjusting for selected socioeconomic variables. This study provides evidence for the importance of considering adaptive behavior as well as socioeconomic disadvantage when describing racial and ethnic disparities in co-occurring ID in epidemiologic studies of autism.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Trastornos Generalizados del Desarrollo Infantil , Discapacidad Intelectual , Humanos , Niño , Preescolar , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/epidemiología , Trastorno Autístico/complicaciones , Trastorno Autístico/epidemiología , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/diagnóstico , Adaptación Psicológica
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