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1.
J Psychiatr Res ; 173: 363-366, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38593694

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Transtornos Psicóticos , Adulto , Humanos , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/terapia , Transtornos Psicóticos/epidemiologia , Transtornos Psicóticos/terapia , Transtornos Psicóticos/diagnóstico , Imaginação
2.
Autism Res ; 17(4): 785-798, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38563047

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Criança , Adulto Jovem , Humanos , Transtorno do Espectro Autista/complicações , Idioma , Cognição , Transtorno Autístico/complicações , Linguística
3.
J Neurodev Disord ; 16(1): 15, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38622540

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Transtornos do Neurodesenvolvimento , Adolescente , Criança , Feminino , Humanos , Masculino , Transtorno do Espectro Autista/complicações , Proteínas de Ligação a DNA/genética , Proteínas de Homeodomínio/genética , Deficiência Intelectual/genética , Deficiência Intelectual/complicações , Saúde Mental , Proteínas do Tecido Nervoso/genética , Transtornos do Neurodesenvolvimento/genética , Transtornos do Neurodesenvolvimento/complicações , Qualidade de Vida , Fatores de Transcrição/genética
4.
BMC Pediatr ; 24(1): 200, 2024 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-38515059

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Infecções por Citomegalovirus , Encefalite , Infecções por Herpesviridae , Herpesvirus Humano 6 , Masculino , Criança , Feminino , Humanos , Infecções por Herpesviridae/diagnóstico , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/diagnóstico , Herpesvirus Humano 6/genética , Ácido Fólico
5.
Artigo em Inglês | MEDLINE | ID: mdl-38442071

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Psiquiatria , Humanos , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/terapia , Hospitais Gerais , Pacientes Internados , Encaminhamento e Consulta
6.
Autism Res ; 17(3): 610-625, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38450955

RESUMO

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.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Transtornos das Habilidades Motoras , Humanos , Adolescente , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/psicologia , Cuidadores , Transtornos das Habilidades Motoras/diagnóstico , Transtornos de Ansiedade/psicologia , Ansiedade/complicações , Ansiedade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/psicologia
7.
Sleep Med ; 117: 99-106, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38522116

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Transtornos do Desenvolvimento da Linguagem , Criança , Humanos , Transtorno do Espectro Autista/complicações , Deficiência Intelectual/complicações , Qualidade do Sono , Transtornos do Desenvolvimento da Linguagem/complicações , Idioma
8.
J Neurodev Disord ; 16(1): 13, 2024 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-38539105

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Epilepsia , Deficiência Intelectual , Criança , Humanos , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/genética , Deficiência Intelectual/diagnóstico , Testes Genéticos/métodos , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/complicações , Estudos Retrospectivos , Epilepsia/complicações , Canais de Potássio Ativados por Sódio/genética , Proteínas do Tecido Nervoso/genética
9.
Medicina (Kaunas) ; 60(3)2024 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-38541214

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Depressão , Criança , Humanos , Depressão/psicologia , Apoio Familiar , Transtorno do Espectro Autista/complicações , Cônjuges/psicologia , Apoio Social
10.
Rev Med Virol ; 34(3): e2532, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38549138

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Infecções por Citomegalovirus , Doenças do Sistema Nervoso , Humanos , Transtorno do Espectro Autista/complicações , Infecções por Citomegalovirus/diagnóstico , Citomegalovirus/fisiologia , Doenças do Sistema Nervoso/etiologia , Ataxia/complicações
11.
Pediatr Neurol ; 154: 1-3, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38428335

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Criança , Humanos , Adolescente , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/genética , Transtorno Autístico/complicações , Mutação/genética , Proteínas de Ligação a DNA/genética , Fatores de Transcrição/genética
12.
J Neurodev Disord ; 16(1): 11, 2024 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-38500028

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Síndrome de DiGeorge , Transtornos do Neurodesenvolvimento , Humanos , Adolescente , Adulto Jovem , Habilidades Sociais , Síndrome de DiGeorge/complicações , Transtorno do Espectro Autista/complicações , Ansiedade
13.
J Contemp Dent Pract ; 25(1): 20-28, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-38514427

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Criança , Humanos , Recursos Audiovisuais , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/terapia , Comportamento Infantil , Método Duplo-Cego
14.
J Neurodev Disord ; 16(1): 12, 2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38509470

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Síndrome do Cromossomo X Frágil , Lactente , Humanos , Síndrome do Cromossomo X Frágil/complicações , Síndrome do Cromossomo X Frágil/psicologia , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/psicologia , Idioma , Cognição
15.
Turk J Pediatr ; 66(1): 57-64, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38523379

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Incontinência Fecal , Gastroenteropatias , Transtornos de Enxaqueca , Criança , Humanos , Incontinência Fecal/complicações , Incontinência Fecal/diagnóstico , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Gastroenteropatias/diagnóstico , Gastroenteropatias/epidemiologia , Gastroenteropatias/complicações , Constipação Intestinal/epidemiologia , Constipação Intestinal/etiologia , Transtornos de Enxaqueca/complicações
16.
Braz J Phys Ther ; 28(1): 100591, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38394720

RESUMO

BACKGROUND: Developmental coordination disorder (DCD) is a neurodevelopmental disorder characterized by deficits in performing motor tasks. Research suggests social skills are also altered. OBJECTIVE: To investigate (1) whether the presence of DCD affects social responsiveness, (2) whether the co-occurrence of autism spectrum disorder (ASD) affects social responsiveness in children with DCD, and (3) whether there is an association between motor performance and social responsiveness in children with DCD. METHODS: Based on parental reports, children aged 5 to 15.5 years were assigned to one of three groups: DCD only (noASD, n = 67), DCD and suspected ASD (sASD, n = 13), and DCD and confirmed ASD (cASD, n = 22). Parental answers to the Social Responsiveness Scale (SRS-2) and the DCD-Questionnaire (DCD-Q) were compared to norm values using one sample t-tests, and between groups using ANOVA and MANOVA. Pearson correlation coefficients explored the relationship between the SRS-2 and DCD-Q in the total group and per group. RESULTS: Compared to norm values, difficulties in all areas of social responsiveness were reported in children with DCD, regardless of group (p<0.001). Compared to the noASD group, more unfavorable SRS-2 total T-scores and poorer DCD-Q scores were observed in sASD and cASD groups. Only in the total group, motor performance showed significant weak to moderate associations with the SRS-2 total T-score and all subscales except for 'social motivation' (r=-0.306 to -0.405; p ≤ 0.02). CONCLUSION: Social responsiveness difficulties are more common in children with DCD and are more severe in the ASD groups. Motor performance and social responsiveness are weak to moderately associated. CLINICAL TRIAL REGISTRATION NUMBER: NCT05092893 (https://clinicaltrials.gov/study/NCT05092893).


Assuntos
Transtorno do Espectro Autista , Transtornos das Habilidades Motoras , Criança , Humanos , Transtorno do Espectro Autista/complicações , Inquéritos e Questionários , Pré-Escolar , Adolescente
17.
Medicina (B Aires) ; 84 Suppl 1: 9-14, 2024 Mar.
Artigo em Espanhol | MEDLINE | ID: mdl-38350618

RESUMO

Sleep disorders are common in children and affect neurological development with important cognitive, emotional and behavioral repercussions. There is a high prevalence of sleep disorders (SD) in neurodevelopmental disorders (NDD) such as autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD). Sleep disorders in pediatric population have a prevalence of 6-25%, while in children with NDD this number rises to 50-80%. In NDDs, higher rates of difficulties in falling asleep, nocturnal awakenings and daytime sleepiness are observed. Disturbances in the circadian rhythm as well as respiratory sleep disorders are also observed. Consequently, there is a decrease in alertness for daytime activities with increased behavioral disorders, emotional problems and academic difficulties associated with executive and memory dysfunctions. Sleep assessment has to be a systemic part in the clinical evaluation of children with NDDs, so as to give a convenient diagnosis and treatment in each case, allowing to improve the quality of life of children and their families.


Los trastornos del sueño son frecuentes en niños y afectan al desarrollo neurológico, con importante repercusión cognitiva, emocional y conductual. Existe una alta prevalencia de trastornos del sueño (TS) en los trastornos del neurodesarrollo (TND), como trastorno del espectro autista (TEA) y trastorno por déficit de atención con hiperactividad (TDAH). Los TS en población pediátrica tienen una prevalencia del 6-25%, mientras que en los niños con TND esta cifra asciende al 50-80%. En los TND se observa un incremento de las dificultades para conciliar el sueño, de los despertares nocturnos y de la somnolencia diurna. Así mismo, presentan alteraciones del ritmo circadiano y trastornos respiratorios del sueño. Como consecuencia se produce una reducción de la alerta para las actividades diarias con incremento de trastornos conductuales, problemas emocionales y dificultades académicas asociadas a disfunciones ejecutivas y de memoria. La evaluación del sueño debe formar parte sistemática en la valoración clínica de los niños con TND, con el fin de realizar un diagnóstico y un tratamiento adecuados a cada caso, permitiendo mejorar la calidad de vida del niño y de su familia.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Transtornos do Neurodesenvolvimento , Transtornos do Sono-Vigília , Humanos , Criança , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/terapia , Qualidade de Vida , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/terapia
18.
Medicina (B Aires) ; 84 Suppl 1: 43-49, 2024 Mar.
Artigo em Espanhol | MEDLINE | ID: mdl-38350624

RESUMO

Autism Spectrum Disorders (ASD) and Attention Deficit Hyperactivity Disorders (ADHD) are Neurodevelopmental Disorders (ND) that frequently coexist together and have etiological, biological, and clinical factors in common. The comorbidity of both neurodevelopmental disorders is associated with a delay or lack of ASD diagnosis and the development of perceptual, emotional, cognitive and behavioral alterations related to Emotional Dysregulation (ED) is common. When both TN are not diagnosed in childhood, they frequently receive wrong diagnoses at later ages, the most frequent being Borderline Personality Disorder (BPD). The clinical presentation of the association of ASD and ADHD, the association with ED, differentiation of BPD, and evaluation and intervention are here analyzed. The comorbidity ASD, ADHD, ED is a more severe disorder associated to polypharmacology and hospital admissions.


Los Trastornos del Espectro Autista (TEA) y los Trastornos por Déficit de Atención Hiperactividad (TDAH) son Trastornos del Neurodesarrollo (TN) que coexisten frecuentemente y que tienen factores etiológicos, biológicos, clínicos en común. La comorbilidad de ambos TN se asocia a un retraso en el diagnóstico del TEA o un diagnóstico que nunca llegan a recibir y es frecuente el desarrollo de alteraciones perceptivas, emocionales, cognitivas y conductuales relacionadas con la Desregulación Emocional (DE). Cuando ambos TN no son diagnosticados en infancia, frecuentemente reciben diagnósticos equivocados en edades más tardías, siendo el más frecuente el Trastorno Límite de Personalidad (TLP). Se analiza la presentación clínica de la asociación del TEA y el TDAH, la asociación con DE, diferenciación del TLP y evaluación e intervención. La comorbilidad TEA, TDAH, DE, es un trastorno más severo, asociado a poli farmacología y a ingresos hospitalarios.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Transtorno Autístico , Humanos , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtorno do Espectro Autista/complicações , Comorbidade
19.
J Atten Disord ; 28(5): 834-846, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38379197

RESUMO

OBJECTIVE: The study involved 17 children with Autism Spectrum Disorder (ASD), 21 with ADHD, 30 with both (ASD + ADHD), and 28 typically developing children (TD). METHODS: The amplitude of low-frequency fluctuations (ALFF) was measured as a regional brain function index. Intrinsic functional connectivity (iFC) was also analyzed using the region of interest (ROI) identified in ALFF analysis. Statistical analysis was done via one-way ANCOVA, Gaussian random field (GRF) theory, and post-hoc pair-wise comparisons. RESULTS: The ASD + ADHD group showed increased ALFF in the left middle frontal gyrus (MFG.L) compared to the TD group. In terms of global brain function, the ASD group displayed underconnectivity in specific regions compared to the ASD + ADHD and TD groups. CONCLUSION: The findings contribute to understanding the neural mechanisms underlying ASD + ADHD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Criança , Humanos , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Encéfalo/diagnóstico por imagem , Mapeamento Encefálico , Lobo Frontal , Imageamento por Ressonância Magnética
20.
J Atten Disord ; 28(7): 1092-1104, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38353406

RESUMO

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.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Criança , Humanos , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Comorbidade
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