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1.
Adv Neurobiol ; 24: 83-96, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32006357

RESUMEN

Autism spectrum disorder (ASD) is a heterogeneous condition affecting >1% of all children, characterized by impaired social interactions, repetitive behavior and a widely variable spectrum of comorbidities. These comorbidities may include developmental delay, gastrointestinal problems, cardiac disorders, immune and autoimmune dysregulation, neurological manifestations (e.g., epilepsy, intellectual disability), and other clinical features. This wide phenotypic heterogeneity is difficult to predict and manifests across a wide range of ages and with a high degree of difference in severity, making disease management and prediction of a successful intervention very difficult. Recently, advances in genomics and other molecular technologies have enabled the study of ASD on a molecular level, illuminating genes and pathways whose perturbations help explain the clinical variability among patients, and whose impairments provide possible opportunities for better treatment options. In fact, there are now >1000 genes that have been linked to ASD through genetic studies of more than 10,000 patients and their families. This chapter discusses these discoveries and in the context of recent developments in genomics and bioinformatics, while also examining the trajectory of gene discovery efforts over the past few decades, as both better ascertainment and global attention have been given to this highly vulnerable patient population.


Asunto(s)
Trastorno del Espectro Autista/genética , Genoma Humano/genética , Genómica , Trastorno del Espectro Autista/complicaciones , Discapacidades del Desarrollo/complicaciones , Discapacidades del Desarrollo/genética , Humanos , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/genética
2.
Adv Neurobiol ; 24: 615-646, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32006377

RESUMEN

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with symptoms ranging from lack of social interaction and communication deficits to rigid, repetitive, and stereotypic behavior. It has also been associated with comorbidities such as anxiety, aggression, epilepsy, deficit in sensory processing, as well as ADHD (attention deficit hyperactivity disorder). Apart from several behavioral and cognitive complications arising as a result of central nervous system dysfunction, there are various physiological comorbidities such as immune system deregulation, neuroinflammation, oxidative stress, mitochondrial dysfunction, and gastrointestinal complications which can worsen existing behavioral complications. There are no available treatments for these physiological comorbidities. The prevalence of gastrointestinal complications in ASD ranges from 9% to 70% and it correlates with behaviors consistent with the autistic endophenotype indicating that these are one of the major comorbidities associated with ASD. A strong connection of gut-brain cross talk occurs as a result of gut dysbiosis responsible for excessive production of short-chain fatty acids such as propanoic acid (PPA) by abnormal gut flora in ASD patients. This worsens behavioral, neurochemical, and mitochondrial dysfunction occurring in ASD. These physiological comorbidities are responsible for the generation of free radical species that cause immune system dysfunction leading to synthesis of various pro-inflammatory cytokines and chemokines. This in turn causes activation of microglia. Dietary phytochemicals are thought to be safer and useful as an alternative neurotherapeutic moiety. These compounds provide neuroprotection by modulating signaling pathways such as Nrf2, NF-κB, MAPK pathway or Sirtuin-FoxO pathway. There has been recent evidence in scientific literature regarding the modulation of gut-brain cross talk responsible for behavioral, biochemical, and mitochondrial dysfunction as well as cellular and behavioral sensory alterations by dietary phytochemicals such as curcumin, resveratrol, naringenin, and sulforaphane. These dietary phytochemicals can be formulated in novel brain-targeted delivery systems which overcome their limitation of low oral bioavailability and short half-life leading to prolonged action. Till date, not much work has been done on the development of brain-targeted neurotherapeutics for ASD. In this chapter we discuss plausible mechanisms and evidence from our own and other scientific research for the utilization of curcumin, resveratrol, naringenin, and sulforaphane as neurotherapeutics for ASD.


Asunto(s)
Trastorno del Espectro Autista/dietoterapia , Trastorno del Espectro Autista/fisiopatología , Fitoquímicos/administración & dosificación , Fitoquímicos/uso terapéutico , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/psicología , Encéfalo/efectos de los fármacos , Encéfalo/fisiopatología , Tracto Gastrointestinal/efectos de los fármacos , Tracto Gastrointestinal/fisiopatología , Humanos
3.
Codas ; 32(3): e20180287, 2020.
Artículo en Portugués, Inglés | MEDLINE | ID: mdl-31994595

RESUMEN

PURPOSE: this paper aims to identify the most used terminologies to designate the disproportional behavior to sounds in the autism spectrum disorder (ASD) and its relationship with the respective tools for its investigation, as well as its occurrence and outcomes. RESEARCH STRATEGIES: the databases used were PubMed, PsycINFO, Web of Science, Scielo and Lilacs. The keywords used were "autism", "hyperacusis" and "auditory perception", with the following combinations: "autism AND hyperacusis" and "autism AND auditory perception". SELECTION CRITERIA: individuals diagnosed with ASD of any age group; available abstract; papers in English, Spanish and Brazilian Portuguese; case series, prevalence and incidence studies, cohort and clinical trials. DATA ANALYSIS: we analyzed studies with individuals diagnosed with ASD of any age group; reference in the title and/or summary of the occurrence of disproportional behavior to sounds, accepting the terms hyper-responsiveness, hypersensitivity and hyperacusis; summary available; papers in English, Spanish and Brazilian Portuguese; series of cases, prevalence and incidence studies, cohort and clinical trials. RESULTS: Of the 692 studies resulting from the consultation, 13 studies could achieve the established requirements. CONCLUSION: The term auditory hypersensitivity was the most commonly used to designate disproportional behavior to sounds, followed by hyperacusis. There was no relationship between the terms and the respective research tool, and the questionnaires were the most used to designate the referred behavior, whose reported frequency was from 42.1% to 69.0%. The auditory behavior tests when performed showed the involvement of the auditory, afferent and efferent neural pathways.


Asunto(s)
Trastorno del Espectro Autista/complicaciones , Hiperacusia/etiología , Reflejo Acústico/fisiología , Terminología como Asunto , Trastorno del Espectro Autista/fisiopatología , Humanos , Hiperacusia/fisiopatología
4.
Genes (Basel) ; 10(12)2019 12 17.
Artículo en Inglés | MEDLINE | ID: mdl-31861230

RESUMEN

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder, and among those with fragile X syndrome, approximately 1/3rd meet a threshold for an autism spectrum disorder (ASD) diagnosis. Previous functional imaging studies of fragile X syndrome have typically focused on those with fragile X syndrome compared to either neurotypical or autism spectrum disorder control groups. Further, the majority of previous studies have tended to focus on those who are more intellectually able than is typical for fragile X syndrome. In this study, we examine the impact of autistic traits in individuals with fragile X syndrome on a paradigm looking at facial emotion processing. The study included 17 individuals with fragile X syndrome, of whom 10 met criteria for autism as measured by the Autism Diagnostic Observation Schedule (ADOS). Prior to the scan, participants rehearsed on a mock scanner to help acclimatize to the scanner environment and thus allow more severely affected individuals to participate. The task examined the blood-oxygen-level-dependent (BOLD) response to fearful and neutral faces taken from the Ekman faces series. Individuals in the autism group had a region of significantly reduced activity centered on the left superior temporal gyrus, compared to those with FXS alone, in response to the fearful faces. We suggest that autism in individuals with fragile X syndrome is associated with similar changes in the neurobiology of facial emotion processing as seen in idiopathic autism.


Asunto(s)
Trastorno del Espectro Autista/diagnóstico , Emociones , Síndrome del Cromosoma X Frágil/diagnóstico , Imagen por Resonancia Magnética , Adolescente , Adulto , Trastorno del Espectro Autista/complicaciones , Encéfalo/efectos de los fármacos , Estudios de Casos y Controles , Niño , Análisis por Conglomerados , Expresión Facial , Femenino , Síndrome del Cromosoma X Frágil/complicaciones , Humanos , Procesamiento de Imagen Asistido por Computador , Masculino , Adulto Joven
5.
Bratisl Lek Listy ; 120(11): 849-855, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31747766

RESUMEN

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).


Asunto(s)
Trastorno del Espectro Autista/complicaciones , Melatonina/análogos & derivados , Trastornos del Sueño-Vigilia/orina , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Humanos , Melatonina/orina , Trastornos del Sueño-Vigilia/complicaciones
6.
Nat Neurosci ; 22(12): 1961-1965, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31768057

RESUMEN

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.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/genética , Trastorno del Espectro Autista/genética , Predisposición Genética a la Enfermedad/genética , Variación Genética/genética , Proteínas Asociadas a Microtúbulos/genética , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno del Espectro Autista/complicaciones , Estudios de Casos y Controles , Exoma/genética , Femenino , Humanos , Masculino
7.
Endocrinol. diabetes nutr. (Ed. impr.) ; 66(9): 579-587, nov. 2019. tab
Artículo en Español | IBECS | ID: ibc-184381

RESUMEN

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


Asunto(s)
Humanos , Adolescente , Adulto , Síndrome de Prader-Willi/complicaciones , Síndrome de Prader-Willi/psicología , Comorbilidad , Conducta del Adolescente , Síndrome de Prader-Willi/tratamiento farmacológico , Psicopatología , Conducta Autodestructiva/complicaciones , Trastornos del Conocimiento/complicaciones , Trastornos del Conocimiento/psicología , Trastorno del Espectro Autista/complicaciones , Trastorno de Personalidad Compulsiva , Trastorno por Déficit de Atención con Hiperactividad
8.
J Abnorm Psychol ; 128(8): 881-891, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31599633

RESUMEN

Past findings on working memory (WM) ability in individuals with autism spectrum disorder (ASD) are mixed. The present objective was to assess not only the integrity of WM capacity, but also the potential contribution of filtering ability and attentional selection to WM performance, in individuals with ASD. A sample of 24 participants with ASD (Mage = 19.6 years) and 24 typically developing participants without ASD (Mage = 20.3 years) participated. Participants completed a computerized paradigm designed to systematically assess WM capacity, visual filtering ability, and attentional selection. In brief, participants were shown visual arrays consisting of 2-8 colored stimuli (circles and/or squares). After a short delay, memory for one of the stimuli was probed. Importantly, participants were informed beforehand that one of the shape types (e.g., circles) was more likely to be probed compared to the other shape type (e.g., squares) - thus making it strategically advantageous to focus on the high frequency shapes and to filter/ignore the low frequency shapes. Eye tracking data were simultaneously collected. The ASD group demonstrated intact WM capacity and filtering ability, but disrupted ability to efficiently allocate capacity under the demands of high WM load. Analysis of eye tracking data suggests the groups may have differed in their strategic approach to encoding stimuli which may have, in turn, contributed to the aforementioned impairment. Findings support the assertion that disruptions in secondary processes such as strategy use and attentional selection may have played a role in previous reports of WM impairment in ASD. (PsycINFO Database Record (c) 2019 APA, all rights reserved).


Asunto(s)
Atención/fisiología , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/fisiopatología , Trastornos de la Memoria/complicaciones , Trastornos de la Memoria/fisiopatología , Memoria a Corto Plazo/fisiología , Adolescente , Adulto , Femenino , Humanos , Masculino , Adulto Joven
9.
Medicina (B Aires) ; 79 Suppl 3: 33-36, 2019.
Artículo en Español | MEDLINE | ID: mdl-31603841

RESUMEN

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.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno del Espectro Autista/complicaciones , Trastornos del Sueño-Vigilia/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/genética , Trastorno del Espectro Autista/genética , Preescolar , Ritmo Circadiano , Humanos , Trastornos del Sueño-Vigilia/diagnóstico , Trastornos del Sueño-Vigilia/genética
10.
Medicine (Baltimore) ; 98(38): e17274, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31568007

RESUMEN

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).


Asunto(s)
Trastorno del Espectro Autista/complicaciones , Peso Corporal , Niño , Humanos , Obesidad/complicaciones , Obesidad/psicología , Sobrepeso/complicaciones , Sobrepeso/psicología , Obesidad Pediátrica/complicaciones , Obesidad Pediátrica/psicología , Delgadez/complicaciones , Delgadez/psicología
11.
Georgian Med News ; (292-293): 54-56, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31560663

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista/complicaciones , Trastorno Autístico/diagnóstico , Depresión/diagnóstico , Depresión/etiología , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/psicología , Trastorno Autístico/epidemiología , Comorbilidad , Depresión/epidemiología , Trastorno Depresivo , Humanos
12.
Zhonghua Yi Xue Za Zhi ; 99(33): 2615-2618, 2019 Sep 03.
Artículo en Chino | MEDLINE | ID: mdl-31510723

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista , Epilepsia , Adolescente , Trastorno del Espectro Autista/complicaciones , Niño , Preescolar , Aberraciones Cromosómicas , Cromosomas Humanos , Variaciones en el Número de Copia de ADN , Epilepsia/complicaciones , Femenino , Humanos , Lactante , Masculino , Convulsiones
13.
Codas ; 31(4): e20180212, 2019 Sep 02.
Artículo en Inglés | MEDLINE | ID: mdl-31483042

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista/complicaciones , Trastornos del Desarrollo del Lenguaje/rehabilitación , Adolescente , Trastorno del Espectro Autista/fisiopatología , Potenciales Relacionados con Evento P300/fisiología , Humanos , Trastornos del Desarrollo del Lenguaje/etiología , Trastornos del Desarrollo del Lenguaje/fisiopatología , Estudios Longitudinales , Masculino
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(9): 870-873, 2019 Sep 10.
Artículo en Chino | MEDLINE | ID: mdl-31515778

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista/diagnóstico , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo de los Aminoácidos/complicaciones , Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Trastorno del Espectro Autista/complicaciones , Niño , Pruebas con Sangre Seca , Cromatografía de Gases y Espectrometría de Masas , Humanos , Errores Innatos del Metabolismo/complicaciones , Espectrometría de Masas en Tándem
15.
Psychiatr Danub ; 31(Suppl 3): 475-478, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31488775

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/fisiopatología , Enuresis Diurna/complicaciones , Enuresis Nocturna/complicaciones , Incontinencia Urinaria/complicaciones , Adolescente , Adulto , Trastorno del Espectro Autista/tratamiento farmacológico , Niño , Enuresis Diurna/diagnóstico , Enuresis Diurna/fisiopatología , Humanos , Enuresis Nocturna/diagnóstico , Enuresis Nocturna/fisiopatología , Estudios Prospectivos , Incontinencia Urinaria/diagnóstico , Incontinencia Urinaria/fisiopatología , Adulto Joven
16.
Bull Menninger Clin ; 83(3): 278-300, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31502874

RESUMEN

Youth with autism spectrum disorder (ASD) present with deficits in both social cognition and executive functioning (EF), which contribute to social impairment. Autistic youth are also frequently diagnosed with comorbid attention-deficit/hyperactivity disorder (ADHD), a disorder that, like ASD, includes impaired EF and social functioning. The comorbidity of ASD and ADHD may result in compounded social impairment, but prior research has not sufficiently evaluated the extent to which this comorbidity profile responds to evidence-based intervention targeting social deficits. It is conceivable that dually targeting EF and social cognition impairment will be more impactful than direct social skills training alone. The authors present an integrative model for intervention programming that examines pathways to social impairment in order to more effectively improve social skills and thereby impact both proximal (e.g., emotion expression, current peer relationships) and more distal outcomes (e.g., depression, self-esteem) in youth with ASD and other neurodevelopmental disorders.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/terapia , Trastorno del Espectro Autista/terapia , Disfunción Cognitiva/terapia , Función Ejecutiva , Psicoterapia , Percepción Social , Habilidades Sociales , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno del Espectro Autista/complicaciones , Niño , Disfunción Cognitiva/etiología , Humanos
17.
J Autism Dev Disord ; 49(12): 4941-4956, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31485814

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista/diagnóstico , Pruebas Neuropsicológicas/normas , Trastorno de Movimiento Estereotipado/diagnóstico , Encuestas y Cuestionarios/normas , Trastorno del Espectro Autista/complicaciones , Niño , Preescolar , China , Femenino , Humanos , Masculino , Reproducibilidad de los Resultados , Trastorno de Movimiento Estereotipado/etiología
18.
J Autism Dev Disord ; 49(11): 4488-4497, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31414266

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista/terapia , Terapia Conductista/métodos , Obesidad/terapia , Sobrepeso/terapia , Padres/psicología , Pérdida de Peso , Adolescente , Adulto , Trastorno del Espectro Autista/complicaciones , Peso Corporal , Niño , Preescolar , Ingestión de Alimentos , Ejercicio Físico , Estudios de Factibilidad , Femenino , Humanos , Masculino , Obesidad/complicaciones , Sobrepeso/complicaciones , Aceptación de la Atención de Salud , Proyectos Piloto , Resultado del Tratamiento
19.
Medicine (Baltimore) ; 98(31): e16550, 2019 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31374019

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista/psicología , Comunicación , Adolescente , Trastorno del Espectro Autista/complicaciones , Femenino , Humanos , Masculino , Nigeria , Psicoterapia Racional-Emotiva/métodos , Habilidades Sociales , Enseñanza
20.
Pediatr Ann ; 48(8): e333-e336, 2019 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-31426102

RESUMEN

Children with autism spectrum disorder (ASD) and similar conditions experience and cope with their surroundings in a unique way. Although a visit to the emergency department (ED) is stressful for any child, the stress for those with ASD and similar conditions can overwhelm their ability to cope. Many elements of visiting the ED contribute to the stress children with ASD experience; they are not feeling well or have an injury, the environment is foreign and filled with harsh stimuli, and the medical professionals they encounter may not understand their unique needs. Fortunately, through staff education, modifications to the environment, and individualizing care plans, a visit to the ED can be a more positive experience for children with ASD. [Pediatr Ann. 2019;48(8):e333-e336.].


Asunto(s)
Trastorno del Espectro Autista/terapia , Servicio de Urgencia en Hospital , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/psicología , Niño , Competencia Clínica , Planificación Ambiental , Humanos , Relaciones Profesional-Familia , Relaciones Profesional-Paciente
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