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1.
Medicina (B Aires) ; 84(5): 860-867, 2024.
Artículo en Español | MEDLINE | ID: mdl-39399926

RESUMEN

INTRODUCTION: Vitamin A deficiency can cause eye disease and has been related to food selectivity in children with autism spectrum disorder (ASD). METHODS: A series of 13 pediatric patients with severe ophthalmological involvement as an initial manifestation of hypovitaminosis A is described. RESULTS: With significant Vitamin A deficiency, neuroimaging was performed in 11 patients. Of these, 8 had pathological findings with the presence of cranial hyperostosis. Lumbar puncture was performed in these patients and endocranial hypertension was detected in 7 of the 8 patients. All had food selectivity and 61.5% had ASD. CONCLUSIONS: Toxic-nutritional optic neuropathy is a rare pathology in children and presents with progressive, bilateral and painless visual loss due to damage to the optic nerve, which can generate severe and irreversible damage to it. Food history allows early detection of nutrient deficiencies in children with restrictive feeding, especially in neuro-atypical patients. This is essential to implement preventive measures and treatment with vitamin A in order to avoid irreversible consequences.


Introducción: La deficiencia de vitamina A puede producir enfermedad ocular y se ha relacionado con la selectividad alimentaria en niños con trastorno del espectro autista (TEA). Métodos: Se describen una serie de 13 pacientes pediátricos con compromiso oftalmológico grave como manifestación inicial de hipovitaminosis A. Resultados: Con deficiencia significativa de Vitamina A, en 11 pacientes se realizaron neuroimágenes. De ellos, 8 tuvieron resultados patológicos con presencia de hiperostosis craneal. En estos se realizó punción lumbar y en 7 de los 8 pacientes se detectó hipertensión endocraneana. Todos tenían selectividad alimentaria y el 61.5 % TEA. Conclusiones: La neuropatía óptica toxico-nutricional es una enfermedad poco frecuente en niños y se presenta con pérdida visual progresiva, bilateral e indolora debido al daño del nervio óptico, pudiendo generar lesión severa e irreversible del mismo. La anamnesis alimentaria permite la pesquisa temprana de deficiencias de nutrientes en niños con alimentación restrictiva, especialmente en pacientes neuro atípicos. Esto es esencial para implementar medidas de prevención y el tratamiento con vitamina A con el fin de evitar consecuencias irreversibles.


Asunto(s)
Deficiencia de Vitamina A , Humanos , Femenino , Masculino , Deficiencia de Vitamina A/complicaciones , Niño , Preescolar , Trastorno del Espectro Autista/complicaciones , Enfermedades del Nervio Óptico/etiología , Preferencias Alimentarias , Adolescente , Trastornos de la Visión/etiología
2.
J Pediatr ; 274: 114217, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-39074735

RESUMEN

OBJECTIVE: To establish the utility of long-term electroencephalogram (EEG) in forecasting epilepsy onset in children with autism spectrum disorder (ASD). STUDY DESIGN: A single-institution, retrospective analysis of children with ASD, examining long-term overnight EEG recordings collected over a period of 15 years, was conducted. Clinical EEG findings, patient demographics, medical histories, and additional Autism Diagnostic Observation Schedule data were examined. Predictors for the timing of epilepsy onset were evaluated using survival analysis and Cox regression. RESULTS: Among 151 patients, 17.2% (n = 26) developed unprovoked seizures (Sz group), while 82.8% (n = 125) did not (non-Sz group). The Sz group displayed a higher percentage of interictal epileptiform discharges (IEDs) in their initial EEGs compared with the non-Sz group (46.2% vs 20.0%, P = .01). The Sz group also exhibited a greater frequency of slowing (42.3% vs 13.6%, P < .01). The presence of IEDs or slowing predicted an earlier seizure onset, based on survival analysis. Multivariate Cox proportional hazards regression revealed that the presence of any IEDs (HR 3.83, 95% CI 1.38-10.65, P = .01) or any slowing (HR 2.78, 95% CI 1.02-7.58, P = .046 significantly increased the risk of developing unprovoked seizures. CONCLUSION: Long-term EEGs are valuable for predicting future epilepsy in children with ASD. These findings can guide clinicians in early education and potential interventions for epilepsy prevention.


Asunto(s)
Trastorno del Espectro Autista , Electroencefalografía , Epilepsia , Humanos , Masculino , Femenino , Estudios Retrospectivos , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/fisiopatología , Electroencefalografía/métodos , Niño , Epilepsia/diagnóstico , Preescolar , Adolescente , Modelos de Riesgos Proporcionales
3.
J Pediatr (Rio J) ; 100(5): 552-556, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38823785

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista , Espasmos Infantiles , Humanos , Estudios Retrospectivos , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/complicaciones , Masculino , Femenino , Lactante , Brasil/epidemiología , Estudios Transversales , Espasmos Infantiles/epidemiología , Factores de Riesgo , Prevalencia , Edad de Inicio , Preescolar
4.
Pediatr Allergy Immunol ; 35(4): e14122, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38581140

RESUMEN

PURPOSE: Neurodevelopmental disorders, such as autism spectrum disorder (ASD), have been increasingly associated with eosinophilic gastrointestinal disorders (EGID). However, the relationship between these diseases remains unclear. We performed a systematic review with meta-analysis to address this issue. METHODS: The search was performed according to the PRISMA guidelines using descriptors for ASD and EGIDs from the MEDLINE, Embase, PsycInfo, LILACS, and Web of Science databases. Observational studies with the prevalence of ASD in any EGID were included. The study protocol was registered on the PROSPERO platform under the number CRD42023455177. RESULTS: The total dataset comprised 766,082 participants. The result of the single-arm meta-analysis showed an overall prevalence of ASD in the population with EGID of 21.59% (95% CI: 10.73-38.67). There was an association between EGID and ASD (OR: 3.44; 95% CI: 1.25-2.21), also significant when restricted only to EoE (OR: 3.70; 95% CI: 2.71-5.70). DISCUSSION: Recent studies have implicated the influence of an inadequate epithelial barrier integrity in the pathogenesis of several diseases. The role of this mechanism can be extended to situations beyond allergic reactions, including other conditions with underlying immunological mechanisms. Several diseases are potentially related to the systemic effect of bacterial translocation in tissues with defective epithelial barriers. CONCLUSION: Our meta-analysis provides evidence that supports the consideration of EGID in patients with ASD and ASD in patients with EGID. Despite its limitations, the results should also be validated by future studies, preferably using multicenter prospective designs in populations with low referral bias.


Asunto(s)
Enteritis , Eosinofilia , Gastritis , Humanos , Eosinofilia/epidemiología , Gastritis/epidemiología , Gastritis/inmunología , Gastritis/complicaciones , Prevalencia , Enteritis/epidemiología , Enteritis/complicaciones , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/complicaciones , Niño , Trastorno Autístico/epidemiología
6.
Braz J Phys Ther ; 28(1): 100591, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38394720

RESUMEN

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).


Asunto(s)
Trastorno del Espectro Autista , Trastornos de la Destreza Motora , Niño , Humanos , Trastorno del Espectro Autista/complicaciones , Encuestas y Cuestionarios , Preescolar , Adolescente
7.
Medicina (B Aires) ; 84 Suppl 1: 9-14, 2024 Mar.
Artículo en Español | MEDLINE | ID: mdl-38350618

RESUMEN

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.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Trastornos del Neurodesarrollo , Trastornos del Sueño-Vigilia , Humanos , Niño , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/terapia , Calidad de Vida , Trastornos del Neurodesarrollo/complicaciones , Trastornos del Neurodesarrollo/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/terapia
8.
Medicina (B Aires) ; 84 Suppl 1: 43-49, 2024 Mar.
Artículo en Español | MEDLINE | ID: mdl-38350624

RESUMEN

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.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Trastorno Autístico , Humanos , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/psicología , Trastorno del Espectro Autista/complicaciones , Comorbilidad
9.
J Psychiatr Res ; 169: 105-112, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38011818

RESUMEN

In Brazil, as in other countries, it is expected a significant variation of epidemiological and clinical characteristics among individuals with autism spectrum disorder (ASD). This study was performed to explore maternal risk factors and clinical characteristics of children with ASD in a population located in southern Brazil. Data were collected from medical records and analyzed to explore biomarkers associated with ASD. Out of 321 children with ASD, 86.5% were males with a male-to-female ratio of 5.7:1, 50.7% were mild/moderate while 49.3% presented severe ASD. Between the risk factors investigated, gestational infection was significantly associated with severe ASD patients. There was also an association between epilepsy and severe autism. Several gastrointestinal (GI) symptoms were significantly associated with severe ASD. Obesity, followed by lower levels of cholesterol, were also significant factors associated with an ASD diagnosis when compared to age-matched controls. Finally, severe ASD was associated with significantly higher serum serotonin levels when compared to age-matched controls and mild/moderate ASD cases. Our findings demonstrate that our population shares many features associated with ASD around the world, such as GI symptoms, epilepsy, and high serotonin levels. It is worth highlighting the low cholesterol levels associated with obesity as an unusual feature that deserves more attention.


Asunto(s)
Trastorno del Espectro Autista , Epilepsia , Enfermedades Gastrointestinales , Niño , Humanos , Masculino , Femenino , Trastorno del Espectro Autista/complicaciones , Serotonina , Brasil/epidemiología , Factores de Riesgo , Epilepsia/epidemiología , Obesidad/complicaciones , Colesterol
10.
Einstein (Sao Paulo) ; 21: eRC0480, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37970954

RESUMEN

Nicolaides-Baraitser Syndrome is a rare genetic condition that clinically presents with intellectual disabilities, facial and bone changes, and sparse hair. In Brazil, only one case has been previously reported without genetic confirmation. We present the case of an 8-year-old boy, clinically and genetically diagnosed with Nicolaides-Baraitser Syndrome, who developed autism spectrum disorder characteristics with a formal diagnosis at the age of eight. Diagnosing autism spectrum disorder in patients with intellectual disabilities is a clinical challenge requiring careful evaluation.


Asunto(s)
Trastorno del Espectro Autista , Hipotricosis , Discapacidad Intelectual , Masculino , Humanos , Niño , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/diagnóstico , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Hipotricosis/complicaciones , Hipotricosis/diagnóstico , Hipotricosis/genética , Facies
11.
Medicina (Kaunas) ; 59(9)2023 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-37763786

RESUMEN

Background and Objectives: To analyze the influence of parental presence and use of risperidone on social interaction and apathy among patients with Autism Spectrum Disorder (ASD). Materials and Methods: Cross-sectional study in a reference center for patients with ASD in a city in northeastern Brazil. The research was carried out using a sociodemographic questionnaire, the Dimensional Apathy Scale, and the Social Communication Questionnaire (SCQ) with the domains of social interaction, language, stereotypy, and communication. The referred questionnaire was answered by the parents or guardians of the children with ASD according to the DSM V criteria. Data were analyzed via independent t-test using the SPSS software version 20. Results: Interviews were conducted with 51 parents/guardians of autistic children with a mean age of 8.8 years (±2.95) and a predominance of males, 34 (66.7%). Of this total, 49 (96.1%) of the children attended school; 40 (78.4%) children were on medication, of which 38 (74.5%) were on risperidone. Those children on risperidone had a higher score on the SCQ scale (p = 0.049) and on the domain of stereotyped behaviors (p = 0.033), which indicated greater impairment. Another statistically relevant variable was the presence of married parents, whereby children who did not have the presence of married parents had a higher average of stereotyped behaviors compared to those who had married parents. Conclusions: The results showed differences in the means of social interactions for children on risperidone, especially regarding stereotyped behaviors. However, it is not possible to state whether this difference was due to the use of risperidone or whether they used risperidone precisely because of these behaviors. Also important was that children who had the presence of married parents showed fewer stereotyped behaviors. There was no difference in apathetic behavior between children.


Asunto(s)
Trastorno del Espectro Autista , Conducta Estereotipada , Masculino , Humanos , Niño , Femenino , Estudios Transversales , Trastorno del Espectro Autista/complicaciones , Risperidona/uso terapéutico , Padres
12.
J Dev Behav Pediatr ; 44(8): e559-e565, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37590189

RESUMEN

OBJECTIVE: Feeding concerns, primarily food selectivity, are commonly observed in children with autism spectrum disorder (ASD). Prevalence rates suggest that at least half of autistic youth have feeding difficulties. METHODS: A retrospective chart review examining records of a large cohort of autistic children (N = 746) referred for ASD evaluation was conducted. Families completed a survey regarding feeding concerns in their children before a diagnostic evaluation. RESULTS: Post hoc analyses based on retrospective chart review revealed approximately 30% of caregivers reported significant difficulty feeding their child. Young age, food selectivity, and concerns about weight were associated with increased likelihood of reported feeding difficulties. There was clear overlap between overall feeding difficulties and specific food selectivity; however, 1 in 5 children whose caregivers did not report feeding difficulties endorsed food selectivity. CONCLUSION: Findings highlight the need for multipronged approaches to screening to facilitate service prioritization by pediatric providers.


Asunto(s)
Trastorno del Espectro Autista , Adolescente , Niño , Humanos , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/complicaciones , Cuidadores , Estudios Retrospectivos , Prevalencia
13.
J ECT ; 39(4): 269-270, 2023 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-37310088

RESUMEN

ABSTRACT: Catatonia is a syndrome with psychomotor, cognitive, and affective symptoms that has been associated with multiple psychiatric and medical conditions, including autism spectrum disorder. Fluctuations in weight can occur within catatonia by means of poor oral intake, treatment with atypical antipsychotics, and often overlooked psychomotor phenomena. We present a case of a patient with autism spectrum disorder and excessive psychomotor activity due to catatonia who initially experienced weight loss despite maintenance of oral intake and required increased caloric intake to maintain her weight. She was treated with electroconvulsive therapy. After the psychomotor phenomena associated with catatonia reduced, she gained 10 lb (4.5 kg) despite no further alterations to medications or diet. This case demonstrates that excessive psychomotor activity seen in catatonia may increase energy expenditure to the severity of altering caloric requirements and that weight is a salient biomarker to be monitored in catatonia, especially with those who have limited communication abilities.


Asunto(s)
Antipsicóticos , Trastorno del Espectro Autista , Trastorno Autístico , Catatonia , Terapia Electroconvulsiva , Femenino , Humanos , Trastorno Autístico/complicaciones , Catatonia/complicaciones , Catatonia/terapia , Catatonia/diagnóstico , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/terapia , Antipsicóticos/uso terapéutico
14.
J Pediatr ; 257: 113367, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36868303

RESUMEN

OBJECTIVES: To evaluate the prevalence and degree of any neurodevelopmental abnormalities in children with familial hypocalciuric hypercalcemia type 3 (FHH3). STUDY DESIGN: A formal neurodevelopmental assessment was performed in children diagnosed with FHH3. The Vineland Adaptive Behavior Scales, which is a standardized parent report assessment tool for adaptive behavior, was used to assess communication, social skills, and motor function and to generate a composite score. RESULTS: Six patients were diagnosed with hypercalcemia between 0.1 and 8 years of age. All had neurodevelopmental abnormalities in childhood consisting of either global developmental delay, motor delay, expressive speech disturbances, learning difficulties, hyperactivity, or autism spectrum disorder. Four out of the 6 probands had a composite Vineland Adaptive Behavior Scales SDS of < -2.0, indicating adaptive malfunctioning. Significant deficits were observed in the domains of communication (mean SDS: -2.0, P < .01), social skills (mean SDS: -1.3, P < .05), and motor skills (mean SDS: 2.6, P < .05). Individuals were equally affected across domains, with no clear genotype-phenotype correlation. All family members affected with FHH3 also described evidence of neurodevelopmental dysfunction, including mild-to-moderate learning difficulties, dyslexia, and hyperactivity. CONCLUSION: Neurodevelopmental abnormalities appear to be a highly penetrant and common feature of FHH3, and early detection is warranted to provide appropriate educational support. This case series also supports consideration of serum calcium measurement as part of the diagnostic work-up in any child presenting with unexplained neurodevelopmental abnormalities.


Asunto(s)
Trastorno del Espectro Autista , Hipercalcemia , Enfermedades Renales , Humanos , Hipercalcemia/diagnóstico , Hipercalcemia/genética , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Comunicación , Estudios de Asociación Genética
15.
J Atten Disord ; 27(11): 1181-1195, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-36843351

RESUMEN

OBJECTIVE: In this review, we examined if there is a deficit in facial recognition of emotion (FER) in children, adolescents, and adults with attention deficit hyperactivity disorder (ADHD). BACKGROUND: Emotional regulation is impaired in ADHD. Although a facial emotion recognition deficit has been described in this condition, the underlying causal mechanisms remain unclear. METHODS: The search was performed in six databases in September 2022. Studies assessing children, adolescents, or adults with isolated or comorbid ADHD that evaluated participants using a FER task were included. RESULTS: Twelve studies out of 385 were selected, with participants ranging in age from 6 to 37.1 years. A deficit in FER specific to ADHD, or secondary to comorbid autism spectrum disorder, anxiety, and oppositional symptoms, was found. CONCLUSIONS: There is a FER deficit in patients with ADHD. Adults showed improved recognition accuracy, reflecting partial compensation. ADHD symptoms and comorbidities appear to influence FER deficits.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Reconocimiento Facial , Adolescente , Niño , Adulto , Humanos , Adulto Joven , Trastorno por Déficit de Atención con Hiperactividad/psicología , Reconocimiento Facial/fisiología , Trastorno del Espectro Autista/complicaciones , Emociones/fisiología , Reconocimiento en Psicología , Expresión Facial
16.
Pharmacol Biochem Behav ; 223: 173522, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36717034

RESUMEN

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by a persistent impairment of social skills, including aspects of perception, interpretation, and response, combined with restricted and repetitive behavior. ASD is a complex and multifactorial condition, and its etiology could be attributed to genetic and environmental factors. Despite numerous clinical and experimental studies, no etiological factor, biomarker, and specific model of transmission have been consistently associated with ASD. However, an imbalance in cholesterol levels has been observed in many patients, more specifically, a condition of hypocholesterolemia, which seems to be shared between ASD and ASD-related genetic syndromes such as fragile X syndrome (FXS), Rett syndrome (RS), and Smith- Lemli-Opitz (SLO). Furthermore, it is known that alterations in cholesterol levels lead to neuroinflammation, oxidative stress, impaired myelination and synaptogenesis. Thus, the aim of this review is to discuss the cholesterol metabolic pathways in the ASD context, as well as in genetic syndromes related to ASD, through clinical observations and animal models. In fact, SLO, FXS, and RS patients display early behavioral markers of ASD followed by cholesterol disturbances. Several studies have demonstrated the role of cholesterol in psychiatric conditions and how its levels modulate brain neurodevelopment. This review suggests an important relationship between ASD pathology and cholesterol metabolism impairment; thus, some strategies could be raised - at clinical and pre-clinical levels - to explore whether cholesterol metabolism disturbance has a generally adverse effect in exacerbating the symptoms of ASD patients.


Asunto(s)
Trastorno del Espectro Autista , Animales , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/metabolismo , Colesterol/sangre , Colesterol/metabolismo , Síndrome del Cromosoma X Frágil , Modelos Animales , Trastornos del Neurodesarrollo , Síndrome de Rett , Hipercolesterolemia
17.
Artículo en Inglés | MEDLINE | ID: mdl-36584862

RESUMEN

Melatonin is a potential therapeutic intervention for improving sleep quality in people with autistic spectrum disorder (ASD). We investigate the effect of using melatonin as a sleep disorder treatment in people with ASD. Interventionist studies were searched in seven databases. A total of 595 references were identified, 15 of which were eligible for the systemic review and meta-analysis. Melatonin use presented a positive effect on total sleep time (standardized mean difference- SMD = 0.78; 95%CI = 0.35; 1.21; I2 = 91%), on sleep latency (SMD = 1.23; 95%CI = 0.35; 2.11; I2 = 94%), and on sleep efficiency (SMD = -0.70; 95%CI = -1.23; -0.16; I2 = 91%) when comparing the intervention group with the placebo/control group via the global analysis. According to the global analysis, the wake after sleep onset and night awakening parameters were not statistically significant. Melatonin has possible efficacy over total time, latency, and efficiency sleep parameters.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Melatonina , Trastornos del Sueño-Vigilia , Humanos , Melatonina/uso terapéutico , Melatonina/farmacología , Trastorno Autístico/complicaciones , Trastorno Autístico/tratamiento farmacológico , Sueño , Polisomnografía , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/tratamiento farmacológico , Trastornos del Sueño-Vigilia/tratamiento farmacológico , Trastornos del Sueño-Vigilia/etiología
18.
Eur Arch Psychiatry Clin Neurosci ; 273(1): 15-24, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35279744

RESUMEN

The Forkhead box P2 (FOXP2) encodes for a transcription factor with a broad role in embryonic development. It is especially represented among GWAS hits for neurodevelopmental disorders and related traits, including attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, neuroticism, and risk-taking behaviors. While several functional studies are underway to understand the consequences of FOXP2 variation, this study aims to expand previous findings to clinically and genetically related phenotypes and neuroanatomical features among subjects with ADHD. The sample included 407 adults with ADHD and 463 controls. Genotyping was performed on the Infinium PsychArray-24 BeadChip, and the FOXP2 gene region was extracted. A gene-wide approach was adopted to evaluate the combined effects of FOXP2 variants (n = 311) on ADHD status, severity, comorbidities, and personality traits. Independent risk variants presenting potential functional effects were further tested for association with cortical surface areas in a subsample of cases (n = 87). The gene-wide analyses within the ADHD sample showed a significant association of the FOXP2 gene with harm avoidance (P = 0.001; PFDR = 0.015) and nominal associations with hyperactivity symptoms (P = 0.026; PFDR = 0.130) and antisocial personality disorder (P = 0.026; PFDR = 0.130). An insertion/deletion variant (rs79622555) located downstream of FOXP2 was associated with the three outcomes and nominally with the surface area of superior parietal and anterior cingulate cortices. Our results extend and refine previous GWAS findings pointing to a role of FOXP2 in several neurodevelopment-related phenotypes, mainly those involving underlying symptomatic domains of self-regulation and inhibitory control. Taken together, the available evidence may constitute promising insights into the puzzle of the FOXP2-related pathophysiology.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Humanos , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno del Espectro Autista/complicaciones , Estudio de Asociación del Genoma Completo , Fenotipo , Encéfalo , Factores de Transcripción Forkhead/genética
19.
J Autism Dev Disord ; 53(4): 1403-1412, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34669103

RESUMEN

Children with autism spectrum disorder (ASD) generally have a delay in the development of motor skills when compared to typical children, however, to date, no study has investigated whether motor limitations can interfere in the participation of these children. The objectives of this study were: verify if the motor skills can explain the frequency, the percentage of number of activities, the involvement and the desire to change in participation at home, school and community of children with autism spectrum disorder (ASD) and; identify if contextual factors would modify the association between motor skills and participation outcomes. The participation and the motor skills were evaluated in 30 children with ASD between 5 and 10 years old. Participation outcomes were measured by the Participation and Environment Measure-Children and Youth (PEM-CY) and the motor skills were assessed by the Timed Up and Go, Timed Up and Down Stairs, Test of Gross Motor Development-2nd edition and Pediatric Balance Scale. The results of the study demonstrated that the motor skills of the locomotion, objects control, change position and balance explained participation outcomes of children with ASD classified from mild to moderate, between 5 and 10 years old. Moreover, the sex variable modified the association between the motor skills and the school participation, with girls performing less activities at this setting.


Asunto(s)
Trastorno del Espectro Autista , Femenino , Adolescente , Humanos , Preescolar , Niño , Trastorno del Espectro Autista/complicaciones , Destreza Motora , Instituciones Académicas
20.
Medicina (B Aires) ; 82 Suppl 3: 67-70, 2022 Aug 30.
Artículo en Español | MEDLINE | ID: mdl-36054861

RESUMEN

The coexistence of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) definitely poses new challenges, such as making an early diagnosis, considering that the former is usually diagnosed 2 years later in children with ADHD comorbid with autism compared to those with ASD alone; this is a problem at a personal, family and social level, since they must receive timely intervention. This coexistence raises questions about the efficacy of treatment in ADHD in people with autism, genetic, anatomical and functional concordances, among others; these are the challenges that are currently posed. In this review, we present some responses to the challenges posed by such coexistence, and we highlight some pending issues to be solved, being these of great importance for their better understanding and management. In all patients with ADHD or ASD, a coexistence between them should be sought. There are shared functional brain alterations in both disorders identified by functional brain magnetic resonance imaging; the treatment established for ADHD is also effective in this comorbidity.


La coexistencia del trastorno del espectro autista (TEA) y trastorno por déficit de atención con hiperactividad (TDAH) definitivamente plantea nuevos desafíos, como la realización de un diagnóstico temprano teniendo en cuenta que el primero generalmente es diagnosticado 2 años después en los niños con TDAH comórbidos; esto es un problema a nivel personal, familiar y social, ya que deben recibir intervención oportuna. Esta coexistencia genera interrogantes sobre la eficacia del tratamiento en TDAH en personas con autismo, concordancias genéticas, anatómicas y funcionales entre otros; y son los retos que se plantean en la actualidad. En la presente revisión exponemos algunas respuestas a los desafíos dados por tal coexistencia y resaltamos algunos temas pendientes a resolver, siendo estos de gran importancia para su mejor entendimiento y manejo. En todos los pacientes con TDAH o TEA se debe buscar una coexistencia entre ellos. Existen alteraciones funcionales cerebrales compartidas en ambos trastornos identificadas por resonancia magnética funcional cerebral; el tratamiento establecido para el TDAH es también eficaz en esta comorbilidad.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Trastorno Autístico , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/terapia , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/terapia , Encéfalo , Niño , Comorbilidad , Humanos
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