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1.
Nat Neurosci ; 22(12): 1961-1965, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31768057

RESUMO

The exome sequences of approximately 8,000 children with autism spectrum disorder (ASD) and/or attention deficit hyperactivity disorder (ADHD) and 5,000 controls were analyzed, finding that individuals with ASD and individuals with ADHD had a similar burden of rare protein-truncating variants in evolutionarily constrained genes, both significantly higher than controls. This motivated a combined analysis across ASD and ADHD, identifying microtubule-associated protein 1A (MAP1A) as a new exome-wide significant gene conferring risk for childhood psychiatric disorders.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Espectro Autista/genética , Predisposição Genética para Doença/genética , Variação Genética/genética , Proteínas Associadas aos Microtúbulos/genética , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Espectro Autista/complicações , Estudos de Casos e Controles , Exoma/genética , Feminino , Humanos , Masculino
2.
Bratisl Lek Listy ; 120(11): 849-855, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31747766

RESUMO

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition associated with sleep disturbances that may result from abnormalities in melatonin production. The correlations of melatonin levels with the severity of sleep disorder and/or severity of ASD were reported. OBJECTIVES: To evaluate urinary levels of the melatonin metabolite, 6-sulphatoxymelatonin (aMT6s), in children with ASD, and their associations with sleep abnormalities and behavioural impairments. METHODS: Study involved 77 children with ASD and 84 controls aged 2.5‒15.5 years. Sleep disorders were assessed by Children's Sleep Habits Questionnaire. Morning and afternoon levels of aMT6s were determined by radioimmunoassay method. Urinary creatinine levels were assessed by an enzymatic method. RESULTS: The urinary aMT6s/creatinine values indicate that the night-time melatonin levels are significantly lower in ASD than in controls, but there are no significant differences in the daytime levels. In the ASD group, on average, a 6.8-fold difference between night-time and daytime values of urinary aMT6s/creatinine was found, whereas for the controls a 12.5-fold difference was observed, indicating a lower night-time increase in melatonin levels. In ASD group, the difference in night-time-daytime aMT6s/creatinine value correlated with some types of sleep problems, but not with the severity of ASD. CONCLUSION: The results indicate that in ASD there are differences in the patterns of melatonin secretion that may be associated with sleep impairment (Tab. 4, Fig. 2, Ref. 28).


Assuntos
Transtorno do Espectro Autista/complicações , Melatonina/análogos & derivados , Transtornos do Sono-Vigília/urina , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Humanos , Melatonina/urina , Transtornos do Sono-Vigília/complicações
3.
Endocrinol. diabetes nutr. (Ed. impr.) ; 66(9): 579-587, nov. 2019. tab
Artigo em Espanhol | IBECS | ID: ibc-184381

RESUMO

El síndrome de Prader-Willi es un trastorno genético causado por alteraciones cromosómicas en el segmento 15q11-q13 que incluye sintomatología cognitiva, mental y conductual, así como un fenotipo somático específico. Tanto las alteraciones psicopatológicas más comunes (discapacidad intelectual, obsesiones, impulsividad, comportamientos de tipo autista, autolesiones) como las comorbilidades principales (cuadros afectivos, psicosis, trastorno obsesivo-compulsivo, trastorno del espectro autista) se caracterizan por una gran heterogeneidad, lo que justifica la necesidad de una mayor caracterización de su frecuencia y modo de presentación. Además de sus efectos sobre la composición corporal y la hipotonía, la hormona del crecimiento ha demostrado utilidad en el control conductual, así como algunos psicofármacos. También se han descrito alternativas a nivel experimental que están mostrando resultados alentadores. Un adecuado conocimiento de la psicopatología asociada a este síndrome permitiría mejorar el abordaje clínico, la identificación de los síntomas, la detección de comorbilidades y la instauración de un tratamiento más efectivo


Prader-Willi syndrome is a genetic disorder caused by chromosomal changes in segment 15q11-q13 including cognitive, mental, and behavioral symptoms, as well as a specific physical phenotype. Both the most common psychopathological changes (intellectual disability, obsessions, impulsivity, autism spectrum disorders, self-injuries) and the main psychiatric comorbidities (affective disorders, psychosis, obsessive-compulsive disorder, autism spectrum disorder) are characterized by a great heterogeneity, which warrants the need for better identification of their frequency and clinical signs. In addition to its effects on body compositionand hypotony, growth hormone has been shown to be useful for regulating patient behavior, and psychoactive drugs are also an option. Other alternatives have shown promising results in experimental trials. Adequate understanding of the psychopathology associated to Prader-Willi syndrome would allow for improving clinical approach, symptom identification, detection of comorbidities, and administration of more effective treatments, leading to better clinical outcomes


Assuntos
Humanos , Adolescente , Adulto , Síndrome de Prader-Willi/complicações , Síndrome de Prader-Willi/psicologia , Comorbidade , Comportamento do Adolescente , Síndrome de Prader-Willi/tratamento farmacológico , Psicopatologia , Comportamento Autodestrutivo/complicações , Transtornos Cognitivos/complicações , Transtornos Cognitivos/psicologia , Transtorno do Espectro Autista/complicações , Transtorno da Personalidade Compulsiva , Transtorno do Deficit de Atenção com Hiperatividade
4.
Medicina (B Aires) ; 79 Suppl 3: 33-36, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603841

RESUMO

The development and establishment of the normal sleep patterns are very important processes in the final anatomical and physiological architecture of the central nervous system. The relationship between sleep disturbances during childhood with neurodevelopmental disorders is complex and potentially synergistic. Sleep patterns are present since the fetal period but their structure and physiology is modified according with the maturation of the central nervous system. Sleep disorders and their relationship with attention deficit hyperactivity disorders(ADHD), autism spectrum disorders(ASD) and other neurodevelopmental disorders (TDN) are not well understood yet, but significant progresses have been made in understanding associations and potential etiological correlations. We reviewed sleep disturbances in NDT, in ADHD and in ASD. A greater understanding of the pleiotropic functions of the genes involved in sleepwake cycle disorders and deviations from neurological developme nt could lead to new diagnostic and therapeut ic strategies in an early stage in order to improve the quality of life of the patient, relatives and caregivers.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Espectro Autista/complicações , Transtornos do Sono-Vigília/complicações , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Espectro Autista/genética , Pré-Escolar , Ritmo Circadiano , Humanos , Transtornos do Sono-Vigília/diagnóstico , Transtornos do Sono-Vigília/genética
5.
Medicine (Baltimore) ; 98(38): e17274, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31568007

RESUMO

BACKGROUND: Weight status and autism spectrum disorder (ASD) are rising public health concerns. An increasing number of reports indicate that individuals with ASD may have unhealthy weight status, but the evidence is mixed. To understand the weight status in individuals with ASD and provide strategies for prevention and intervention, we describe the protocol for a systematic review and meta-analysis aimed at assessing the prevalence of obesity, overweight, and underweight in ASD. METHODS: A broad range of key bibliographic databases including MEDLINE (PubMed), Embase, Cochrane, and ISI Web of Science will be searched to identify studies reporting the prevalence of obesity, overweight, and underweight in patients with ASD. Retrieved records will be independently screened by 2 authors and relevant estimates will be extracted from studies reporting data on obesity, overweight, and underweight prevalence among individuals with ASD. The assessment of study quality will be conducted primarily using the Newcastle-Ottawa scale and checklist proposed by the Joanna Briggs Institute. Prevalence estimates of obesity and overweight will be separately pooled using random-effects model. The pooled estimates will be summarized and presented by regional groupings. Subgroup analysis will be conducted for variables (such as study setting, participants' age, and geographical region) across studies, depending on data availability. Between-study heterogeneity will be assessed using the I statistic and explored through subgroup analyses. This systematic review and meta-analysis will be reported following the preferred reporting items for systematic reviews and meta-analyses checklist and the meta-analysis of observational studies in epidemiology statements guidelines for meta-analysis and systematic reviews of observational studies. RESULTS: In this study, we will outline details of the aims and methods on the meta-analysis of weight status of individuals with ASD. CONCLUSION: The results of this study will summarize the current data of weight status of individuals with ASD. REGISTRATION: PROSPERO-National Institute of Health Research (NIHR) Prospective Register of Systematic Reviews (CRD42019130790).


Assuntos
Transtorno do Espectro Autista/complicações , Peso Corporal , Criança , Humanos , Obesidade/complicações , Obesidade/psicologia , Sobrepeso/complicações , Sobrepeso/psicologia , Obesidade Pediátrica/complicações , Obesidade Pediátrica/psicologia , Magreza/complicações , Magreza/psicologia
6.
Georgian Med News ; (292-293): 54-56, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31560663

RESUMO

The present paper aims to summarize and review available research on the manifestations of comorbid depression in persons with ASD (Autism spectrum Disorder) and its impact on the course of autism;as well as to review the pharmacological treatment of comorbid depression with ASD. The existence of a comorbid depression affects the state of individuals with ASD, which often remains unnoticed for the people around. Literary review permits us to get familiar with the peculiarities of clinical manifestations of comorbid depression in autism, risk factors for comorbid depression the importance of diagnosis and the methods of pharmacological intervention. Few issues have been identified: the necessity of raising awareness and drawing attention to the clinical features of comorbid depression especially in low functioning persons. The nessecity of regular screening persons with ASD screening of all persons having ASD for determining the existence of depression and suicidal thoughts. The necessity of adaptation of relevant diagnostic instruments, which will be an important aid tool to diagnose comorbid depression in autism. The necessity of more research to establish guidelines for pharmacological management of symptoms for comorbid depression disorder.


Assuntos
Transtorno do Espectro Autista/complicações , Transtorno Autístico/diagnóstico , Depressão/diagnóstico , Depressão/etiologia , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/psicologia , Transtorno Autístico/epidemiologia , Comorbidade , Depressão/epidemiologia , Transtorno Depressivo , Humanos
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(9): 870-873, 2019 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-31515778

RESUMO

OBJECTIVE: To assess the value of dry blood spot tandem mass spectrometry for the diagnosis of autism spectrum disorder (ASD). METHODS: Peripheral blood samples of 277 autistic children were collected. Their amino acid and carnitine profiles were detected by liquid chromatography tandem mass spectrometry. Urine samples of suspected patients were collected for verification by gas chromatography mass spectrometry. Blood samples were also taken for genetic testing. RESULTS: Of the 277 children with ASD, 19 (6.9%) were suspected to be with inborn error of metabolism (IEM), which included 6 cases with amino acidemia, 9 with organic acidemia and 4 with fatty acidemia. Three cases of phenylketonuria, one case of homocysteinemia, one case of propionemia, one case of methylmalonic acidemia, one case of glutaric acidemia, one case of isovaleric acidemia, one case of argininemia, one case of citrullinemia I and four cases of primary carnitine deficiency were confirmed by genetic testing, which yielded an overall diagnostic rate of 5.1% (14/277). CONCLUSION: Our result has provided further evidence for the co-occurrence of ASD and IEM. Tandem mass spectrometry has a great value for the diagnosis and treatment of ASD in childhood.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/complicações , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Transtorno do Espectro Autista/complicações , Criança , Teste em Amostras de Sangue Seco , Cromatografia Gasosa-Espectrometria de Massas , Humanos , Erros Inatos do Metabolismo/complicações , Espectrometria de Massas em Tandem
8.
Zhonghua Yi Xue Za Zhi ; 99(33): 2615-2618, 2019 Sep 03.
Artigo em Chinês | MEDLINE | ID: mdl-31510723

RESUMO

Objective: To explore the clinical features and genetic causes of autism spectrum disorder (ASD) patients with epilepsy. Methods: The clinical data of five patients with ASD and epilepsy admitted to Xuanwu Hospital between September 2017 and September 2018 were collected, including medical history, intelligence level, developmental level, physical examination, neuroimaging and electroencephalogram. High-throughput whole-genome sequencing was applied to five patients and their parents. Results: Of five patients, four were male and one was female. All five patients had mild mental retardation, and one patient had significant growth retardation and craniofacial deformity. The average epilepsy onset age was 6.3 years old (7 months to 16 years). The main epileptic type was tonic-clonic seizure with abnormal EEG results. All patients have a favorable response to anti-epileptic drugs. Whole-exome sequencing (WES) revealed copy number variation in all 5 patients. Among them, 3 cases were reported to be pathogenic, and 2 cases were not reported (chromosome 16p13.3 duplication and chromosome 21q22.3 deletion). Conclusions: The results of current study support that autism spectrum disorders with seizures is often associated with copy number variations, such as Williams-Beuren region duplication syndrome, chromosome 15q11.2 duplication syndrome and chromosome 15q11.2 deletion syndrome. We reported two novel copy number variations (chromosome 16p13.3 duplication and chromosome 21q22.3 deletion) in two autism spectrum disorder patients with epileptic seizures.


Assuntos
Transtorno do Espectro Autista , Epilepsia , Adolescente , Transtorno do Espectro Autista/complicações , Criança , Pré-Escolar , Aberrações Cromossômicas , Cromossomos Humanos , Variações do Número de Cópias de DNA , Epilepsia/complicações , Feminino , Humanos , Lactente , Masculino , Convulsões
9.
Codas ; 31(4): e20180212, 2019 Sep 02.
Artigo em Inglês | MEDLINE | ID: mdl-31483042

RESUMO

This study aimed to measure the effects of a Computer-based Auditory Training Program (CBATP) on an adolescent diagnosed with Autism Spectrum Disorder (ASD) and Central Auditory Processing Disorder (CAPD). This is the case report of a male, 14-year-old adolescent diagnosed with ASD. The individual was submitted to basic audiological evaluation, central auditory processing assessment and hearing electrophysiology (EP), pre- and post-therapeutic intervention. Central auditory processing (CAP) was assessed by means of the following instruments: Time-compressed Speech Test (TCST), Random Gap Detection Test (RGDT), Staggered Spondaic Word Test (SSWT), Frequency (Pitch) Pattern Sequence Test (FPST), and Duration Pattern Test (DPT). The P300 component of the Event-related Potential (ERP) was used in the hearing EP. Pre-intervention assessment of CAP showed changes in the auditory skills of closure, figure-ground and temporal ordering, but normal temporal resolution ability. Post-intervention evaluation of CAP showed improvement in all previously mentioned auditory skills, except for the figure-ground ability, which remained unchanged. Regarding the findings of the hearing EP, a decrease in the latency of the P300 component was observed pre- and post-intervention. This study demonstrated that the use of a CBATP resulted in improvement in the hearing abilities assessed in an adolescent diagnosed with ASD.


Assuntos
Transtorno do Espectro Autista/complicações , Transtornos do Desenvolvimento da Linguagem/reabilitação , Adolescente , Transtorno do Espectro Autista/fisiopatologia , Potencial Evocado P300/fisiologia , Humanos , Transtornos do Desenvolvimento da Linguagem/etiologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Estudos Longitudinais , Masculino
10.
Psychiatr Danub ; 31(Suppl 3): 475-478, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31488775

RESUMO

BACKGROUND: Vesico- sphincter and bowel dysfunction have been frequently detected in Autism spectrum disorder (ASD) patients, but to date no consistent information exist on adults affected by the disease. We evaluated the prevalence and types of bladder and bowel disfunction (BBD) in young and adult patients affected by ASD. SUBJECTS AND METHODS: Twenty- seven adults and 20 children/teens with ASD and a matched group of typically developing subjects were enrolled. Daily pads use and episodes of urinary incontinence (UI) were recorded in a 3- day voiding diary. Patients underwent also the measurement of post-void urinary residual volume and 3- day bowel diary. In addition, type and duration of the pharmacological agents assumed by the patients were accurately recorded. RESULTS: Any type of UI was observed in 85.1% of adults and in 90% of children/teens. In adults, nocturnal enuresis (NE, 62.9%) and diurnal intermittent UI (37%) were the most frequently observed bladder dysfunction while in children/ teens were NE (75%) and diurnal continuous UI (40%). In all patients was demonstrated a significant relationship between urinary symptoms and pharmacological agents, particularly NE and clotiapine (p<0.004) and periciazine (p<0.008). CONCLUSIONS: Young and adult patients with ASD present with a high prevalence of BBD and concomitant antipsychotic medications could to play a contribution in induction and/or maintaining of BBD.


Assuntos
Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/fisiopatologia , Enurese Diurna/complicações , Enurese Noturna/complicações , Incontinência Urinária/complicações , Adolescente , Adulto , Transtorno do Espectro Autista/tratamento farmacológico , Criança , Enurese Diurna/diagnóstico , Enurese Diurna/fisiopatologia , Humanos , Enurese Noturna/diagnóstico , Enurese Noturna/fisiopatologia , Estudos Prospectivos , Incontinência Urinária/diagnóstico , Incontinência Urinária/fisiopatologia , Adulto Jovem
11.
J Autism Dev Disord ; 49(12): 4941-4956, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31485814

RESUMO

Research on the repetitive behavior of children diagnosed with autism spectrum disorder (ASD) has recently gained scholarly attention. Restricted and repetitive behavior (RRB) is a core ASD symptom of various patterns and high prevalence. The Repetitive Behavior Scale-Revised (RBS-R) is a standard questionnaire used to assess RRB in individuals with ASD. This study collected data from 163 Chinese children aged 3-8 with ASD to analyze the validity and reliability of the RBS-R. Results showed that the original tested items were adaptable to the Chinese cultural environment when treating such disorders. A confirmatory factor analysis was applied to the structuring models, indicating that a 5-factor model was more suitable for evaluating RRB in this context.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Testes Neuropsicológicos/normas , Transtorno de Movimento Estereotipado/diagnóstico , Inquéritos e Questionários/normas , Transtorno do Espectro Autista/complicações , Criança , Pré-Escolar , China , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Transtorno de Movimento Estereotipado/etiologia
12.
J Autism Dev Disord ; 49(11): 4488-4497, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31414266

RESUMO

Evidence-based weight-loss treatments for children with autism spectrum disorder (ASD) are lacking. Therefore, a parent-based weight-loss treatment for children with ASD (PBT-ASD) was developed. A pilot study was conducted to test the initial efficacy, feasibility, and acceptability of this intervention. Parents of 20 children with ASD and overweight/obesity (mean age = 9.90 (SD = 2.31) years; 90% male; 40% Hispanic) participated in a 16-session PBT-ASD. The PBT-ASD program was found to be feasible and acceptable. Both children and parents lost weight from pre- to post-treatment (p's < .05). Parent-reported child physical activity and vegetable consumption increased at post-treatment (p's < .05). This pilot study provides a proof-of-concept for PBT-ASD. Randomized controlled trials with larger samples and follow-up are needed.


Assuntos
Transtorno do Espectro Autista/terapia , Terapia Comportamental/métodos , Obesidade/terapia , Sobrepeso/terapia , Pais/psicologia , Perda de Peso , Adolescente , Adulto , Transtorno do Espectro Autista/complicações , Peso Corporal , Criança , Pré-Escolar , Ingestão de Alimentos , Exercício , Estudos de Viabilidade , Feminino , Humanos , Masculino , Obesidade/complicações , Sobrepeso/complicações , Aceitação pelo Paciente de Cuidados de Saúde , Projetos Piloto , Resultado do Tratamento
13.
Postgrad Med ; 131(7): 445-452, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31443616

RESUMO

Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care. Subjects and Methods: Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly developed neurocutaneous clinic in a pediatric tertiary care hospital in Athens (Greece); and systematic chart review of the patients diagnosed with neurofibromatosis type 1 during this time period. Results: The most frequent neurocutaneous syndromes were neurofibromatosis type 1 (NF1) in 89 patients and tuberous sclerosis complex in 17. In 20.38% of patients a neurocutaneous syndrome was not confirmed. Approximately 2/3 of the NF1 patients underwent genetic analysis, and for 76.67% of them, a pathogenic mutation on the NF1 gene was revealed. Eighty-one patients manifested with generalized NF1 and eight with mosaic NF1. Dermatological manifestations included café-au-lait macules in all patients, followed by axillary and/or inguinal freckling (n = 57), external plexiform neurofibromas (n = 17), and cutaneous and subcutaneous neurofibromas (n = 11). Approximately half of patients had learning disabilities and attention deficit hyperactivity disorder, followed by mental retardation (n = 9), autistic spectrum disorders (n = 4), headaches (n = 3) and seizures (n = 2). Neuroimaging showed characteristic areas of hyperintensity on T2-weighted images in 74.07% of patients and optic pathway glioma in 19.75%. Two patients developed malignant peripheral sheath nerve tumor. Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data.


Assuntos
Neurofibromatose 1/fisiopatologia , Equipe de Assistência ao Paciente , Esclerose Tuberosa/fisiopatologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Espectro Autista/complicações , Manchas Café com Leite/complicações , Criança , Pré-Escolar , Estudos de Coortes , Dermatologistas , Feminino , Genes da Neurofibromatose 1 , Testes Genéticos , Genética Médica , Grécia , Humanos , Lactente , Deficiência Intelectual/complicações , Masculino , Mosaicismo , Síndromes Neurocutâneas/genética , Síndromes Neurocutâneas/fisiopatologia , Síndromes Neurocutâneas/terapia , Neurofibroma Plexiforme/complicações , Neurofibromatose 1/complicações , Neurofibromatose 1/genética , Neurofibromatose 1/terapia , Neurologistas , Neuropsicologia , Oncologistas , Oftalmologistas , Cirurgiões Ortopédicos , Ambulatório Hospitalar , Pediatras , Radiologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/fisiopatologia , Neoplasias Cutâneas/terapia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/genética , Esclerose Tuberosa/terapia
14.
Medicine (Baltimore) ; 98(31): e16550, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31374019

RESUMO

BACKGROUND/OBJECTIVE: Studies show the need for improved communication and social skills of adolescents with autism spectrum disorders (ASDs). Therefore, the present study aimed to analyze the effect of using rational-emotive language education (RELE) to pursue this need for adolescents in Nigeria. METHODS: The design of the study was a group randomized trial, with pretest, post-test, and follow-up. Sixty-eight adolescents with ASDs participated in the study. Autism Communication and Social Skills Scale for Adolescent (ACSSSA) was used for data collection. The method of data analysis in the study was repeated measures ANOVA procedure, with Partial eta squared ((Equation is included in full-text article.)), adjusted R, mean, standard deviation, and upper/lower limit. RESULTS: The RELE program significantly improved communication and social skills of adolescents with ASDs exposed to the treatment intervention when compared with waitlist control group. CONCLUSION: Exposure to RELE significantly improved communication and social skills of adolescents with ASDs in this study. Therefore, we recommend that language educators, speech pathologists, language therapists, special educators and counsellors, and other professionals involved in the treatment and caring for ASDs patients be trained on the application of the RELE technique so as to enable them to employ the program in their professional practices.


Assuntos
Transtorno do Espectro Autista/psicologia , Comunicação , Adolescente , Transtorno do Espectro Autista/complicações , Feminino , Humanos , Masculino , Nigéria , Psicoterapia Racional-Emotiva/métodos , Habilidades Sociais , Ensino
15.
J Autism Dev Disord ; 49(10): 4109-4122, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31267282

RESUMO

Symbolic play skills are important in language acquisition and child development. Children with autism spectrum disorder (ASD) often have difficulties demonstrating such play behaviors. Imaginary objects symbolic play refers to play behavior in which children perform play actions without actual objects. Three boys with ASD (3-7 years) participated in this study. A multiple-probe across three participants and two settings design was employed to evaluate the effects of intraverbal training on the acquisition and generalization of imaginary objects symbolic play. Results indicated that all children acquired and maintained target imaginary objects play activities. Generalization to untaught activities occurred in one child. All three children' symbolic play emerged or increased in free play after the instruction.


Assuntos
Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/psicologia , Transtornos do Desenvolvimento da Linguagem/etiologia , Transtornos do Desenvolvimento da Linguagem/psicologia , Ensino , Criança , Pré-Escolar , Feminino , Humanos , Desenvolvimento da Linguagem , Masculino
16.
J Autism Dev Disord ; 49(10): 4244-4255, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31289987

RESUMO

This randomized controlled study evaluated a computer-based intervention on emotion understanding in 32 children with autism spectrum conditions with and without intellectual disability (ID) aged 7-15 years. The intervention group (n = 16) used the program for 12 h while the control group (n = 16) was not included in any intervention or training beside the usual educational curriculum. After controlling for pre-intervention scores and symptom severity, strong positive effects were observed in emotion recognition from real face photographs and pictograms, as well as in understanding situation-based emotion across both intellectual ability groups. The typical and ID intervention groups performed significantly better on all EU measures, compared to controls, at the level of feature based distant generalization.


Assuntos
Transtorno do Espectro Autista/terapia , Inteligência Emocional , Emoções , Deficiência Intelectual/terapia , Psicoterapia/métodos , Adolescente , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/psicologia , Criança , Pré-Escolar , Feminino , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/psicologia , Masculino
17.
Int J Mol Sci ; 20(13)2019 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-31277383

RESUMO

Autism Spectrum Disorder (ASD) is a developmental disorder characterized by social and communication deficits and repetitive behaviors. Children with ASD are also at a higher risk for developing overweight or obesity than children with typical development (TD). Childhood obesity has been associated with adverse health outcomes, including insulin resistance, diabetes, heart disease, and certain cancers. Importantly some key factors that play a mediating role in these higher rates of obesity include lifestyle factors and biological influences, as well as secondary comorbidities and medications. This review summarizes current knowledge about behavioral and lifestyle factors that could contribute to unhealthy weight gain in children with ASD, as well as the current state of knowledge of emerging risk factors such as the possible influence of sleep problems, the gut microbiome, endocrine influences and maternal metabolic disorders. We also discuss some of the clinical implications of these risk factors and areas for future research.


Assuntos
Transtorno do Espectro Autista/complicações , Obesidade/complicações , Ganho de Peso , Transtorno do Espectro Autista/genética , Criança , Exercício , Comportamento Alimentar , Humanos , Obesidade/genética , Fatores de Risco
18.
Medicina (Kaunas) ; 55(7)2019 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-31284658

RESUMO

Background and objectives: Autism Spectrum Disorder (ASD) is a complex neuro-developmental disorder and it has been suggested that symptoms of ASD are associated with neural networks that regulate the Autonomic Nervous System (ANS). However, the nature of autonomic atypicalities in ASDs remain largely unknown. Measures like Heart Rate Variability (HRV) and urinary Vanillylmandelic Acid (VMA) estimation are sensitive and non-invasive physiological and biochemical indicators of autonomic nervous activity. This study aimed to compare the physiological and biochemical autonomic indices in children with and without ASD. Materials and Methods: In this case-control study, 40 children with autism and 40 Typically Developing (TD) children were recruited. Measures of physiological autonomic index were assessed by the analysis of short term HRV, and the urinary levels of VMA estimation was used as a biochemical autonomic index. Results: Cardiac sympathetic activity assessed by Low Frequency (nu) of HRV was significantly higher in the ASD group in comparison with the TD group (p = 0.006). On the contrary, both the High Frequency (abs) and (nu) of HRV were found to be significantly lower in autistic children (p = 0.034 and p = 0.000) than controls. Autistic children also exhibited a significantly higher level (p = 0.049) of VMA concentration compared to TD children. Conclusion: The study concludes that children with ASD exhibit lower cardio-vagal activity as measured by HRV and increased sympathetic activity as assessed by urinary VMA compared to that of TD children. The core autistic symptoms exhibited by children with ASD could be due to the differences in baseline arousal or stress which might be associated with autonomic dysfunction. Further studies are needed to examine the association of this autonomic dysregulation with ASD symptoms and comorbidities.


Assuntos
Transtorno do Espectro Autista/complicações , Sistema Nervoso Autônomo/fisiopatologia , Frequência Cardíaca/fisiologia , Transtorno do Espectro Autista/induzido quimicamente , Transtorno do Espectro Autista/fisiopatologia , Sistema Nervoso Autônomo/química , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Determinação da Frequência Cardíaca/métodos , Humanos , Índia , Masculino , Índice de Gravidade de Doença
19.
J Pediatr Surg ; 54(9): 1771-1777, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31196668

RESUMO

OBJECTIVE: To determine the prevalence and identify risk factors of autism spectrum disorders (ASDs) and neurodevelopmental delays in giant omphalocele (GO) survivors. MATERIALS AND METHODS: The study cohort consists of 47 GO survivors enrolled in our follow-up program between 07/2004 and 12/2015. All patients underwent assessments at 2 years of age or older. Outcomes were assessed by either the Bayley Scales of Infant Development II (prior 2006) or III (after 2006), or the Wechsler Preschool and Primary Scale of Intelligence (children older than 4 years). ASD diagnosis was made based on the Diagnostic and Statistical Manual of Mental Disorders IV (prior to 2014) or 5 criteria. RESULTS: The prevalence of ASD in GO children is 16 times higher than the general population (P = 0.0002). ASD patients were more likely to be diagnosed with neurodevelopmental and neurofunctional delays, language disorders, and genetic abnormalities (P < 0.01). While 53.2% of GO children scored within the average range for all developmental domains, 19.1% scored within the mildly delayed and 27.7% in the severe delayed range in at least one domain. Prolonged respiratory support, pulmonary hypertension, gastroesophageal reflux disease, feeding problems, prolonged hospitalization, abnormal BAER hearing screen, presence of delayed motor coordination, and hypotonicity were associated with delayed scores (P < 0.05). CONCLUSIONS: There is a significant rate of ASD in GO survivors. Neurodevelopmental delays, language delays, and genetic abnormalities were strongly associated with ASD. Neurological impairments were present in nearly half of GO children. Surrogate markers of disease severity were associated with below average neurodevelopmental scores. Level of evidence Level IV.


Assuntos
Transtorno do Espectro Autista , Deficiências do Desenvolvimento , Hérnia Umbilical , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/epidemiologia , Criança , Pré-Escolar , Estudos de Coortes , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/epidemiologia , Hérnia Umbilical/complicações , Hérnia Umbilical/epidemiologia , Humanos , Prevalência , Fatores de Risco
20.
Expert Opin Pharmacother ; 20(12): 1421-1427, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31180743

RESUMO

Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a reported prevalence of 1 in 59 people. Its core features are persistent deficits in social communication and restricted, repetitive patterns of behavior or interests. Individuals with ASD have a high incidence of secondary problems with mood lability, tantrums, self-injurious behavior and aggressiveness toward others. Collectively, these behaviors are often referred to as irritability. Many medications have been used to treat irritability in autism, with aripiprazole one of only two medications approved in the USA for this purpose. Areas covered: Herein, the authors review the evidence supporting the use of aripiprazole for treating irritability in autism, including the pivotal trials leading to regulatory approval and long-term studies conducted post-approval. They utilized PubMed, searching all English language publications since 2000, using the terms aripiprazole, autism, autism spectrum disorder, pervasive developmental disorder, Asperger's disorder, and irritability, and focused on clinical trials and review articles. Expert opinion: Multiple studies have shown the clear benefit of aripiprazole in the treatment of irritability in autism disorders compared to placebo. Often underemphasized are the metabolic effects, the proper monitoring for these effects, and the need for periodic reassessment to determine if ongoing treatment is needed.


Assuntos
Aripiprazol/uso terapêutico , Transtorno do Espectro Autista/tratamento farmacológico , Transtorno do Espectro Autista/psicologia , Humor Irritável/efeitos dos fármacos , Transtornos do Humor/tratamento farmacológico , Antipsicóticos/uso terapêutico , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/epidemiologia , Comunicação , Humanos , Transtornos do Humor/epidemiologia , Transtornos do Humor/etiologia , Resultado do Tratamento
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