Search results for "Autistic spectrum disorder"
showing 10 items of 12 documents
7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Li…
2019
Abstract Introduction Duplication of long arm of chromosome 7(q) is uncommon. It may occur as “pure”, isolated anomaly or in association with other mutations involving the same or other chromosomes. “Pure” chromosome 7q duplication has recently been classified by segment involved: the interstitial, proximal, or distal segment of the arm. Attempts to correlate genotype with phenotype in each group has yielded questionable results even though intellective disability and minor dysmorphic features of variable types are typically seen. Material and Methods In a young boy showing minor facial dysmorphism, language delay, autistic spectrum disorder, epileptic seizures, behavioral disturbances and …
LO SCORBUTO, SEGNALE DI ALLARME DI UN DISTURBO DELLO SPETTRO AUTISTICO
2022
The authors describe the case of a 3-year-old girl with bleeding gums and leg pain finally diagnosed with vitamin C deficiency (scurvy) and autistic spectrum disorder (ASD). The increased risk of developing scurvy due to a restricted diet in children affected by ASD is stressed.
Comparison of metals and essential trace elements levels between Autistic Spectrum Disorders cases and their sibs in Sicily (southern Italy)
2016
Introduction: A role of metals exposure and essential trace element deficiency in Autistic Spectrum Disorders (ASD) etiology has been suggested by epidemiologic studies, but conclusive evidence on this topic is still lacking and controversial. We compared metals and essential trace element levels between cases both with their brothers and healthy children. Methods: The diagnosis of ASD were performed by ADOS and ADI-R according to DSM IV (Diagnostic and Statistical Manual of Mental Disorders) criteria. Hair samples were collected from cases and sibs by single cutting from the occipital region. The samples were cut to lengths of about 1.5–2 cm using clean stainless steel scissors. Approximat…
Influencia del sesgo de género en el diagnóstico de trastorno de espectro autista: una revisión
2018
espanolLa prevalencia del trastorno de espectro autista (TEA) se ha incrementado en los ultimos anos, en parte debido a las mejoras de los metodos de deteccion y en parte a las modi- ficaciones en la definicion que se han ido incorporando a los manuales diagnosticos. Este incremento ha provocado que el indice de prevalencia por genero sea en la actualidad de un 1,4/1, segun algunos autores, o hasta de un 15,7/1 segun otros, con un numero muy superior de varones que reciben el diagnostico en comparacion con el numero de mujeres que lo reciben. Las distintas explicaciones que se han dado a esta cuestion apuntan a unas determinadas diferencias de genero en las manifestaciones sintomaticas del …
Sleep in children with autistic spectrum disorder: a questionnaire and polysomnographic study.
2007
Abstract Objective To evaluate sleep in children with autistic spectrum disorder (ASD) by means of sleep questionnaires and polysomnography; moreover, to analyze their cyclic alternating pattern (CAP). Methods Thirty-one patients with ASD (28 males, 3 females, aged 3.7–19 years) and age-matched normal controls were included. ASD children were evaluated by a standard sleep questionnaire that consisted of 45 items in a Likert-type scale covering several areas of sleep disorders and by overnight polysomnography in the sleep laboratory after one adaptation night. Results The questionnaire results showed that parents of ASD children reported a high prevalence of disorders of initiating and maint…
Atgriezeniskā dienas grāmata kā pedagoģiskais risinājums bērnu ar autisma spektra traucējumiem komunikatīvās kompetences veicināšanai
2018
Šajā Maģistra darbā tiek prezentēta inovatīva “atgriezeniskā dienas grāmata” kā pedagoģiskais risinājums (objekts) bērnu ar autisma spektra traucējumiem komunikatīvās kompetences attīstīšanai (priekšmets). Darbam ir 83 lpp., tā skaitā 2 tabulas, 9 attēli, 68 zinātniskās literatūras vienības un 3 pielikumi Ieraksti ko vecāki un skolotāji fiksē dienas grāmatā, atspoguļojot ikdienā veiktās aktivitātes un kritiskos notikumus, palīdz paredzēt attīstības grūtības un labāk izprast konkrētās situācijas. Tika pierādīts, ka šī metode veicina bērnu verbālās un neverbālās komunikācijas uzlabošanu, sekmējot viņu emocionāla uztraukuma samazināšanos, kā arī viņu iespējas sekmīgāk iekļauties darba tirgū un…
Interacción social y comunicación temprana en hermanos de niños con diagnóstico de trastorno del espectro autista: una revisión de la literatura
2017
Los hermanos de niños con trastorno del espectro autista (TEA) tienen un mayor riesgo que la media de la población infantil, entre un 5 y un 10%, de ser después diagnosticados con el trastorno. Por otra parte, algunos de estos hermanos han mostrado, independientemente de ser más tarde diagnosticados, tener dificultades en las interacciones sociales tempranas. ¿Son habituales este tipo de conductas, no necesariamente vinculadas al trastorno, en hermanos de niños con TEA? En el presente trabajo se plantea una revisión bibliográfica para explorar los hallazgos más recientes en respuesta a este interrogante. Las principales conclusiones apuntan a un patrón de comunicación temprana diferente, o …
Bērnu ar autiskā spektra traucējumiem psihomotorās funkcijas izmaiņu izpēte atbilstoši terapijas veidam un viņu vecāku dzīves kvalitāte
2020
Autisms ir salīdzinoši jauns traucējums, kas izriet no atšķirībām bērna spēju fizioloģiskajā attīstībā, pamatojoties uz DSM-5.Materiāli un metodes:1. fāze: Šis pētījums tika veikts divos posmos. Pirmajā gareniskajā posmā Denveras funkcionālā pārbaude tika izmantota, lai novērtētu bērnu psihomotorās spējas: redzes spējas, dzirdes spējas, smalko motoro funkciju, bruto motoro funkciju un runu. DSM-5 novērtējums tika izmantots, lai pierādītu bērnu diagnozi. Kopumā visā šajā posmā piedalījās 100 bērni vecumā no diviem līdz pieciem gadiem. Tika novēroti četri galvenie terapijas veidi: Montessori terapija, konsultācijas ar speciālo pedagogu un “citas” terapijas. Sešu mēnešu laikā bērni piedalījās …
Diagnosi precoce dei disturbi dello spettro autistico: esperienza clinica e ruolo dei test genetici
2022
The case of an infant diagnosed with Autistic Spectrum Disorders (ASD) associated to a maternal segregated micro duplication (Xp21.2 region involving IL1RAPL1 and NR0B1 genes) is described. The role of the genetic test in approaching the diagnosis and the therapy of ASD is discussed.
Brain Opioid Activity and Oxidative Injury: Different Molecular Scenarios Connecting Celiac Disease and Autistic Spectrum Disorder
2020
Celiac Disease (CD) is an immune-mediated disease triggered by the ingestion of wheat gliadin and related prolamins from other cereals, such as barley and rye. Immunity against these cereal-derived proteins is mediated by pro-inflammatory cytokines produced by both innate and adaptive system response in individuals unable to adequately digest them. Peptides generated in this condition are absorbed across the gut barrier, which in these patients is characterized by the deregulation of its permeability. Here, we discuss a possible correlation between CD and Autistic Spectrum Disorder (ASD) pathogenesis. ASD can be induced by an excessive and inappropriate brain opioid activity during the neon…