Em seguida têm o link para ovirem a Cinderela em CAA:
http://www.youtube.com/watch?v=x9DFYQJ1SXM
sexta-feira, 23 de abril de 2010
sábado, 10 de abril de 2010
Apresentação sobre Comunicação Aumentativa Alternativa
APEE Autismo em parceria com a editora Kalandraka estão a divulgar os livros da colecção Makakinhos para leitores com Necessidades Educativas Especiais.
Para promover a divulgação dos livros no proximo dia 17 de Abril a APEE Autismo vai realizar uma apresentação dos mesmos, conjuntamente ira decorrer uma apresentação sobre Comunicação Aumentativa Alternativa que tera como oradora a Dra. Vania Peixoto - Terapeuta da Fala e Orientadora de Estagios na Universidade Fernando Pessoa.
Este evento ira se realizar no dia 17 de Abril ás 15h00 no auditorio da Ordem dos Enfermeiros - Secção Regional do Norte na Rua Latino Coelho nº 352.
Por favor façam as vossas inscrições atraves do da associação –apeeautismo@gmail.com
Ficamos a espera das vossas inscrições.
Melhores cumprimentos
APEE - Autismo
Associação de Pais e Encarregados de Educação
de Alunos com Perturbação do Espectro do Autismo
www.apee-autismo.blogspot.com
Para promover a divulgação dos livros no proximo dia 17 de Abril a APEE Autismo vai realizar uma apresentação dos mesmos, conjuntamente ira decorrer uma apresentação sobre Comunicação Aumentativa Alternativa que tera como oradora a Dra. Vania Peixoto - Terapeuta da Fala e Orientadora de Estagios na Universidade Fernando Pessoa.
Este evento ira se realizar no dia 17 de Abril ás 15h00 no auditorio da Ordem dos Enfermeiros - Secção Regional do Norte na Rua Latino Coelho nº 352.
Por favor façam as vossas inscrições atraves do da associação –apeeautismo@gmail.com
Ficamos a espera das vossas inscrições.
Melhores cumprimentos
APEE - Autismo
Associação de Pais e Encarregados de Educação
de Alunos com Perturbação do Espectro do Autismo
www.apee-autismo.blogspot.com
segunda-feira, 29 de março de 2010
02 Abril dia Internacional da Consciencialização do Autismo
'Autism: Windows on the Musical Mind?’
Dr. Adam Ockelford, professor na Roehampton University (UK) explora como um ambiente excepcional precoce (um fascínio para som com
dificuldades na compreensão da linguagem) pode produzir desenvolvimento musical excepcional, eo que isso pode nos dizer sobre a musicalidade inata em nós
todos. A apresentação incluirá uma sessão conduzida por Derek Pavicini, que irá executar os pedidos de audiência e improvisações
Dr. Adam Ockelford, professor na Roehampton University (UK) explora como um ambiente excepcional precoce (um fascínio para som com
dificuldades na compreensão da linguagem) pode produzir desenvolvimento musical excepcional, eo que isso pode nos dizer sobre a musicalidade inata em nós
todos. A apresentação incluirá uma sessão conduzida por Derek Pavicini, que irá executar os pedidos de audiência e improvisações
sexta-feira, 26 de março de 2010
Better Genetic Test for Autism? Chromosomal Microarray Analysis Picks Up More Abnormalities Than Current Tests
ScienceDaily (Mar. 15, 2010) — A large study from Children's Hospital Boston and the Boston-based Autism Consortium finds that a genetic test that samples the entire genome, known as chromosomal microarray analysis, has about three times the detection rate for genetic changes related to autism spectrum disorders (ASDs) than standard tests.
Publishing in the April issue of Pediatrics (and online March 15), the authors urge that CMA become part of the first-line genetic work-up for ASDs.
Expectant parents who have family members with ASDs, as well as families who already have an affected child, often request genetic testing. However, there is still only limited knowledge about actual causative genes. The currently recommended tests (karyotyping to look for chromosomal abnormalities and testing for Fragile X, the single largest known genetic cause of ASDs) often come up negative. Chromosomal microarray analysis (CMA) is a genome-wide assay that examines the chromosomes for tiny, sub-microscopic deletions or duplications of DNA sequences, known as copy-number variants.
CMA offers about 100-fold greater resolution than standard karyotyping. However, since it is new, it is often considered a second-tier test. Depending on where a person lives, or what insurance they have, CMA may not be covered by health insurance. "Based on our findings, CMA should be considered as part of the initial clinical diagnostic evaluation of patients with ASDs," says Bai-Lin Wu, PhD, Director of Children's DNA Diagnostic Lab in the Department of Laboratory Medicine, which has offered CMA to families since 2006.
The research team, led by co-senior authors Wu (heading the Children's team), and David Miller, MD, PhD, of Children's Division of Genetics and Department of Laboratory Medicine (heading the Autism Consortium team), assessed the diagnostic value of CMA in the largest cohort to date -- 933 patients with a clinical diagnosis of ASD (by DSM-IV-TR criteria) who received clinical genetic testing in 2006, 2007 and 2008.
Half were Children's patients who had their samples submitted to the hospital's DNA Diagnostic Laboratory, and the others were recruited through the Autism Consortium, a research and clinical collaboration of five Boston-area medical centers. Nearly half of the patients were diagnosed with autistic disorder, nearly half with PDD-NOS (pervasive developmental disorder -- not otherwise specified) and about 3 percent with Asperger disorder. Ages ranged from 13 months to 22 years.
Testing included the two currently used tests (G-banded karyotype and fragile X), as well as CMA. When the researchers compared the tests' diagnostic yield, they found:
•Karyotyping yielded abnormal results in 2.23 percent of patients
•Fragile X testing was abnormal in 0.46 percent
•CMA results were judged to be abnormal in 7.3 percent of patients when the entire length of the chromosomes (the whole genome) was sampled.
Extrapolating from these results, the researchers estimate that without CMA, genetic diagnosis will be missed in at least 5 percent of ASD cases. CMA performed best in certain subgroups, such as girls with autistic disorder, and past studies indicate that it also has a higher yield in patients with intellectual disability (who constituted only 12 percent of this sample).
"CMA clearly detects more abnormalities than other genetic tests that have been the standard of care for many years," says Miller. "We're hoping this evidence will convince insurance companies to cover this testing universally."
In all, roughly 15 percent of people with autism have a known genetic cause. Establishing a clear genetic diagnosis helps families obtain early intervention and services for autism, and helps parents predict the possibility of having another child with autism.
In addition, by pinpointing bits of chromosomes that are deleted or duplicated, CMA can help researchers zero in on specific causative genes within that stretch of DNA. They can also begin to classify patients according to the type of deletion or duplication they have, and try to find specific treatment approaches for each sub-type of autism.
"Just in the last two years, a number of studies have revealed the clinical importance of ever smaller chromosome deletions and duplications found with advanced microarray technology," says Wu. "These new, highly-efficient tests can help in the evaluation or confirmation of autism spectrum disorders and other developmental disorders, leading to early diagnosis and intervention and a significantly improved developmental outcome."
Two known chromosome locations -- on chromosome 16 (16p11.2) and chromosome 15 (15q13.2q13.3) accounted for 17 percent of abnormal CMA findings. Both chromosome abnormalities were initially linked with ASDs by Children's Hospital Boston and collaborators in The New England Journal of Medicine and the Journal of Medical Genetics, respectively, in 2008. Children's now offers specific tests targeting both of these "hot spots."
However, the researchers note that most copy-number changes were unique or identified in only a small number of patients, so their implications need further study. Many of them are presumed to be related to ASDs because they involve important genes, cover a large region of the chromosome, or because the child is the first person in that family to have the change.
"Some deletions and duplications are rare and specific to one individual or one family," says Miller. "Learning about them is going to be an evolving process. There won't be one single test that finds all genetic changes related to autism, until we completely understand the entire genome."
The paper's co-first authors were Autism Consortium members Yiping Shen, PhD, of Children's Department of Laboratory Medicine and the Center for Human Genetic Research at Massachusetts General Hospital, and Kira Dies, ScM, LGC, of the Family Research Network of the Autism Consortium and Children's Multi-Disciplinary Tuberous Sclerosis Program. A number of specialists from Children's Departments of Neurology, Developmental Medicine and Clinical Genetics and physicians from other medical centers in greater Boston were also authors on the study. The research was supported by the Nancy Lurie Marks Family Foundation, the Simons Foundation, Autism Speaks and the National Institutes of Health.
Families interested in scheduling an appointment at Children's may call the Developmental Medicine Center (617-355-7025) or the Department of Neurology (617-355-2711).
Publishing in the April issue of Pediatrics (and online March 15), the authors urge that CMA become part of the first-line genetic work-up for ASDs.
Expectant parents who have family members with ASDs, as well as families who already have an affected child, often request genetic testing. However, there is still only limited knowledge about actual causative genes. The currently recommended tests (karyotyping to look for chromosomal abnormalities and testing for Fragile X, the single largest known genetic cause of ASDs) often come up negative. Chromosomal microarray analysis (CMA) is a genome-wide assay that examines the chromosomes for tiny, sub-microscopic deletions or duplications of DNA sequences, known as copy-number variants.
CMA offers about 100-fold greater resolution than standard karyotyping. However, since it is new, it is often considered a second-tier test. Depending on where a person lives, or what insurance they have, CMA may not be covered by health insurance. "Based on our findings, CMA should be considered as part of the initial clinical diagnostic evaluation of patients with ASDs," says Bai-Lin Wu, PhD, Director of Children's DNA Diagnostic Lab in the Department of Laboratory Medicine, which has offered CMA to families since 2006.
The research team, led by co-senior authors Wu (heading the Children's team), and David Miller, MD, PhD, of Children's Division of Genetics and Department of Laboratory Medicine (heading the Autism Consortium team), assessed the diagnostic value of CMA in the largest cohort to date -- 933 patients with a clinical diagnosis of ASD (by DSM-IV-TR criteria) who received clinical genetic testing in 2006, 2007 and 2008.
Half were Children's patients who had their samples submitted to the hospital's DNA Diagnostic Laboratory, and the others were recruited through the Autism Consortium, a research and clinical collaboration of five Boston-area medical centers. Nearly half of the patients were diagnosed with autistic disorder, nearly half with PDD-NOS (pervasive developmental disorder -- not otherwise specified) and about 3 percent with Asperger disorder. Ages ranged from 13 months to 22 years.
Testing included the two currently used tests (G-banded karyotype and fragile X), as well as CMA. When the researchers compared the tests' diagnostic yield, they found:
•Karyotyping yielded abnormal results in 2.23 percent of patients
•Fragile X testing was abnormal in 0.46 percent
•CMA results were judged to be abnormal in 7.3 percent of patients when the entire length of the chromosomes (the whole genome) was sampled.
Extrapolating from these results, the researchers estimate that without CMA, genetic diagnosis will be missed in at least 5 percent of ASD cases. CMA performed best in certain subgroups, such as girls with autistic disorder, and past studies indicate that it also has a higher yield in patients with intellectual disability (who constituted only 12 percent of this sample).
"CMA clearly detects more abnormalities than other genetic tests that have been the standard of care for many years," says Miller. "We're hoping this evidence will convince insurance companies to cover this testing universally."
In all, roughly 15 percent of people with autism have a known genetic cause. Establishing a clear genetic diagnosis helps families obtain early intervention and services for autism, and helps parents predict the possibility of having another child with autism.
In addition, by pinpointing bits of chromosomes that are deleted or duplicated, CMA can help researchers zero in on specific causative genes within that stretch of DNA. They can also begin to classify patients according to the type of deletion or duplication they have, and try to find specific treatment approaches for each sub-type of autism.
"Just in the last two years, a number of studies have revealed the clinical importance of ever smaller chromosome deletions and duplications found with advanced microarray technology," says Wu. "These new, highly-efficient tests can help in the evaluation or confirmation of autism spectrum disorders and other developmental disorders, leading to early diagnosis and intervention and a significantly improved developmental outcome."
Two known chromosome locations -- on chromosome 16 (16p11.2) and chromosome 15 (15q13.2q13.3) accounted for 17 percent of abnormal CMA findings. Both chromosome abnormalities were initially linked with ASDs by Children's Hospital Boston and collaborators in The New England Journal of Medicine and the Journal of Medical Genetics, respectively, in 2008. Children's now offers specific tests targeting both of these "hot spots."
However, the researchers note that most copy-number changes were unique or identified in only a small number of patients, so their implications need further study. Many of them are presumed to be related to ASDs because they involve important genes, cover a large region of the chromosome, or because the child is the first person in that family to have the change.
"Some deletions and duplications are rare and specific to one individual or one family," says Miller. "Learning about them is going to be an evolving process. There won't be one single test that finds all genetic changes related to autism, until we completely understand the entire genome."
The paper's co-first authors were Autism Consortium members Yiping Shen, PhD, of Children's Department of Laboratory Medicine and the Center for Human Genetic Research at Massachusetts General Hospital, and Kira Dies, ScM, LGC, of the Family Research Network of the Autism Consortium and Children's Multi-Disciplinary Tuberous Sclerosis Program. A number of specialists from Children's Departments of Neurology, Developmental Medicine and Clinical Genetics and physicians from other medical centers in greater Boston were also authors on the study. The research was supported by the Nancy Lurie Marks Family Foundation, the Simons Foundation, Autism Speaks and the National Institutes of Health.
Families interested in scheduling an appointment at Children's may call the Developmental Medicine Center (617-355-7025) or the Department of Neurology (617-355-2711).
quarta-feira, 17 de março de 2010
Pilot Employment Initiative Helps People with Autism Find Work
Tuesday, March 16, 2010, 12:16
Christchurch based charity The Wessex Autistic Society believes that, whilst not everyone with autism will be able to work, it is vital that those who are able should be given the opportunity and support to do so.
Chris Blaney, working with careful attention to detail at the Wessex Autistic Society’s Portfield School, recently.
Many people with autism are able to work. And many people with autism want to work. But recent research shows that only 15% of adults with autism are in full-time employment in the UK.
Those with Asperger's Syndrome particularly, often have excellent skills and knowledge useful in the workplace but have difficulty finding and keeping jobs in open employment.
Martin Kaye, Employment Support Adviser based at the charity’s Dorchester resource base comments, “It is an important aim of our Employment Support Service to create paid employment for people with autism. Our new pilot project recently employed several service users to do some painting and decorating work at Portfield School. As a charity we felt it was important that we are not asking local employers to support people with autism in this way before we did so ourselves. The experience was a very positive one for all involved and we hope local businesses will be encouraged to join the initiative.”
Martin continues; “There is considerable scope for the inclusion of people with autism in the workplace and feedback suggests many employees would be supportive of such projects.”
The Wessex Autistic Society recognises appropriate training and support would be needed for employers and employees to ensure that people with autism are welcomed into the workplace and supported day-to-day.
The society would like to involve other industry sectors including computer-based Administration Services; computer building and repair services; and scale-model construction. If you work in any of these sectors and would like to get involved in the initiative, The Wessex Autistic Society would like to hear from you. If you are a potential employee, the charity’s Employment Support Service offers one-to-one employment advice, guidance and support across the Wessex region and may be able to assist you.
Please contact Martin Kaye 01305 213130 for further information. Alternatively, please visit http://www.twas.org.uk/index.php?pIDref=137-employment_support
Christchurch based charity The Wessex Autistic Society believes that, whilst not everyone with autism will be able to work, it is vital that those who are able should be given the opportunity and support to do so.
Chris Blaney, working with careful attention to detail at the Wessex Autistic Society’s Portfield School, recently.
Many people with autism are able to work. And many people with autism want to work. But recent research shows that only 15% of adults with autism are in full-time employment in the UK.
Those with Asperger's Syndrome particularly, often have excellent skills and knowledge useful in the workplace but have difficulty finding and keeping jobs in open employment.
Martin Kaye, Employment Support Adviser based at the charity’s Dorchester resource base comments, “It is an important aim of our Employment Support Service to create paid employment for people with autism. Our new pilot project recently employed several service users to do some painting and decorating work at Portfield School. As a charity we felt it was important that we are not asking local employers to support people with autism in this way before we did so ourselves. The experience was a very positive one for all involved and we hope local businesses will be encouraged to join the initiative.”
Martin continues; “There is considerable scope for the inclusion of people with autism in the workplace and feedback suggests many employees would be supportive of such projects.”
The Wessex Autistic Society recognises appropriate training and support would be needed for employers and employees to ensure that people with autism are welcomed into the workplace and supported day-to-day.
The society would like to involve other industry sectors including computer-based Administration Services; computer building and repair services; and scale-model construction. If you work in any of these sectors and would like to get involved in the initiative, The Wessex Autistic Society would like to hear from you. If you are a potential employee, the charity’s Employment Support Service offers one-to-one employment advice, guidance and support across the Wessex region and may be able to assist you.
Please contact Martin Kaye 01305 213130 for further information. Alternatively, please visit http://www.twas.org.uk/index.php?pIDref=137-employment_support
terça-feira, 16 de março de 2010
No rasto genético do autismo
As intervenções terapêuticas com crianças que demonstrem ter Transtorno do Espectro Autista (TEA) devem começar desde cedo. Existem vários testes cuja finalidade é detectar anomalias no DNA que possam causar problemas para um diagnóstico precoce. Um trabalho publicado na revista «Pediatrics» defende a generalização do uso de um deles.
Na maioria dos casos, os sintomas aparecem antes dos três anos, mas podem igualmente ser diagnosticados muito depois dessa idade. Portanto, pessoas que tenham um filho ou outro familiar afectado têm a probabilidade de virem a ter descendentes com a doença e a resposta está, por isso, nos genes.
Hoje, sabe-se que os factores genéticos que aumentem o risco de desenvolver TEA são variados e isso dificulta a detecção precoce. Os guias de diagnóstico genético recomendam o uso de testes como: Cariótipo dos cromossomas, que permite identificar grandes alterações; e o teste da síndrome do X frágil (também conhecida como síndrome de Martin & Bell), já que em 30 por cento destes têm autismo; mas o potencial destes é bastante limitado.
O estudo então publicado por investigadores do Hospital Infantil e do Consórcio do Autismo de Boston (EUA) sublinham a Análise Cromossómica por Microarray (CMA), por considerarem ter uma taxa de detecção de anomalias genéticas três vezes superior aos seus antecessores.Os autores testaram as três provas genéticas em 933 pacientes, entre os 13 meses e 22 anos. O cariótipo detectou anomalias em 2,3 por cento, o segundo teste apenas em 0,46 por cento e o CMA em 7,3 por cento dos participantes, para a análise do genoma completo (caso se limitasse a examinar determinadas regiões, potencial descendência).
Ferramenta importante
“O CMA detecta claramente mais alterações do que os outros testes genéticos considerados de standard clínico", explicou David Miller, do Departamento de Genética do Hospital Infantil de Boston. Miller espera que, agora, as companhias de seguros cubram os testes, dada a sua capacidade para detectar anomalias genéticas no DNA.
Os investigadores consideram que o CMA será uma ferramenta importante no futuro, e não só para o diagnóstico do TEA, mas também para estabelecer as causas genéticas e tentar clarificar a origem. A análise poderá avaliar e confirmar a presença do transtorno proporcionando um diagnóstico para intervenção precoce e posteriormente contribuir para uma evolução significativa dos pacientes.
Ciência Hoje
Na maioria dos casos, os sintomas aparecem antes dos três anos, mas podem igualmente ser diagnosticados muito depois dessa idade. Portanto, pessoas que tenham um filho ou outro familiar afectado têm a probabilidade de virem a ter descendentes com a doença e a resposta está, por isso, nos genes.
Hoje, sabe-se que os factores genéticos que aumentem o risco de desenvolver TEA são variados e isso dificulta a detecção precoce. Os guias de diagnóstico genético recomendam o uso de testes como: Cariótipo dos cromossomas, que permite identificar grandes alterações; e o teste da síndrome do X frágil (também conhecida como síndrome de Martin & Bell), já que em 30 por cento destes têm autismo; mas o potencial destes é bastante limitado.
O estudo então publicado por investigadores do Hospital Infantil e do Consórcio do Autismo de Boston (EUA) sublinham a Análise Cromossómica por Microarray (CMA), por considerarem ter uma taxa de detecção de anomalias genéticas três vezes superior aos seus antecessores.Os autores testaram as três provas genéticas em 933 pacientes, entre os 13 meses e 22 anos. O cariótipo detectou anomalias em 2,3 por cento, o segundo teste apenas em 0,46 por cento e o CMA em 7,3 por cento dos participantes, para a análise do genoma completo (caso se limitasse a examinar determinadas regiões, potencial descendência).
Ferramenta importante
“O CMA detecta claramente mais alterações do que os outros testes genéticos considerados de standard clínico", explicou David Miller, do Departamento de Genética do Hospital Infantil de Boston. Miller espera que, agora, as companhias de seguros cubram os testes, dada a sua capacidade para detectar anomalias genéticas no DNA.
Os investigadores consideram que o CMA será uma ferramenta importante no futuro, e não só para o diagnóstico do TEA, mas também para estabelecer as causas genéticas e tentar clarificar a origem. A análise poderá avaliar e confirmar a presença do transtorno proporcionando um diagnóstico para intervenção precoce e posteriormente contribuir para uma evolução significativa dos pacientes.
Ciência Hoje
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