As atitudes dos professores face à inclusão de alunos com deficiência no Ensino Regular

As sociedades actuais caracterizam-se pela mudança, complexidade e diversidade cultural. De dia para dia assistimos cada vez mais à passagem das responsabilidades educativas da comunidade para a escola, assumindo esta, um papel preponderante na formação dos nossos jovens. O professor, é assim, considerado um elemento chave na construção de uma escola inclusiva e para que haja uma efectiva mudança da escola e das estratégias da sala de aula (Costa, 1999). O objectivo deste estudo é investigar as atitudes dos professores, determinando como estes percepcionam as suas Competências e de que forma essas atitudes são influenciadas, ou não, tendo em conta a experiência profissional, o grupo disciplinar a que pertencem, a experiência no ensino de alunos com deficiência e a formação inicial cujas áreas de estudo, estiveram directamente relacionados com a deficiência. A amostra deste estudo foi constituída por um total de 741 professores do ensino regular (534 afectos ao género feminino e 207 afectos ao género masculino). Foi aplicado o questionário APIAD – Atitudes dos Professores face à Inclusão de Alunos com Deficiência (Leitão, 2011), inferido através da resposta a 14 afirmações, em que cada uma delas deverá ser relacionado com 4 condições de deficiência (deficiência visual, deficiência auditiva, deficiência mental e deficiência motora). Concluiu-se então que, relativamente ao Grupo Disciplinar, as diferenças significativas se encontram entre os professores de Educação Física e os professores de Humanidades e de Ciências, sendo que os primeiros têm uma atitude mais positiva relativamente às suas competências. Quanto ao Contacto com a Deficiência, os resultados indicaram que os professores que têm experiência no ensino de alunos com deficiência têm uma atitude mais positiva relativamente às suas competências. No que se refere à Experiência Profissional, os nossos resultados encontram diferenças significativas entre os professores com menos anos de experiência e os professores com mais anos de experiência, sendo que os primeiros têm uma atitude mais positiva relativamente às suas competências Por último, em relação à Formação Inicial, os professores cujas áreas de estudo, na sua formação inicial, estiveram directamente relacionados com deficiência têm uma atitude mais positiva relativamente às suas competências. ABSTRACT: Today, societies are characterized by change, complexity and cultural diversity. Each day, we saw more and more responsibilities passing from the educational community to school, assuming that a major role in the formation of our youth. Teacher is considered a key element in the building of an inclusive school and for that there is a real change of school and classroom strategies (Costa, 1999). The purpose of this study is to investigate teacher´s attitudes, determining how they perceive their skills and how these attitudes are or aren´t influenced taking into account the professional experience, the subject group they belong to, the experience in students with those particular needs teaching and last, the initial training with chairs that had contact with people with needs. The study sample consisted in a total of 741 teachers of the regular education (534 allocated to the female and 207 assigned to the male gender). We used the questionnaire APIAD - Attitudes of teachers towards the Inclusion of Students with Disabilities (Leitão, 2011), inferred by the response to 14 statements, each one of them should be related to four conditions of disability (visual impairment, hearing impairment, mental retardation and physical disabilities). It was concluded then that for the Disciplinary Group, significant differences are found between the physical education teachers and teachers of Humanities and Sciences, and the former have a more positive attitude to their skills. How to contact the Disability, the results indicated that teachers who have experience teaching students with disabilities have a more positive attitude to their skills. With regard to professional experience, significant differences were found between teachers with fewer years of experience and teachers with more years of experience, and the former have a more positive attitude to their skills. Finally, regarding to initial training, teachers in their initial training formation who have contact with people with disabilities have a more positive attitude to their skills.

Dethroning the myth: cognitive dissociations and innate modularity in Williams syndrome

Despite increasing empirical data to the contrary, it continues to be claimed that morphosyntax and face processing skills of people with Williams syndrome are intact, This purported intactness, which coexists with mental retardation, is used to bolster claims about innately specified, independently functioning modules, as if the atypically developing brain were simply a normal brain with parts intact and parts impaired. Yet this is highly unlikely, given the dynamics of brain development and the fact that in a genetic microdeletion syndrome the brain is developing differently from the moment of conception, throughout embryogenesis, and during postnatal brain growth. In this article, we challenge the intactness assumptions, using evidence from a wide variety of studies of toddlers, children, and adults with Williams syndrome.

Dystrophin immunoreactivity in normal and Duchenne human fetal neurons in culture.

Dystrophin, the protein product defective in Duchenne muscular dystrophy (DMD), is present in all types of muscle and in the brain. The function of the protein is unknown and its role in the brain is unclear, although 30% of DMD patients show nonprogressive mental retardation. We have therefore studied the localisation of dystrophin in cultures of normal and DMD human fetal neurons using antibodies raised to different regions of the protein. Dystrophin immunoreactivity was demonstrated in the soma and axon hillock of normal neurons and appeared to be associated with the inner part of the cell membrane, although some intracellular staining was also observed. Positive dystrophin staining was present only in cells with fully developed neuronal features, although not all the neurons were positive. Glial cells were always negative for the antigen. Immunostaining with antibodies to the brain spectrins indicate that the dystrophin antibodies did not crossreact with these proteins. The possibility of cross-reactivity with other proteins is discussed. Studies of cells cultured from a DMD fetus also showed specific dystrophin immunostaining in neurons, although the muscle was generally negative for dystrophin. However, the localisation of dystrophin immunostaining and that of the brain spectrins and neurofilaments appeared abnormal, as did the overall morphology of the cells. This suggests that dystrophin may play a role during brain development and dystrophin deficiency results in abnormal neuronal features. This would be consistent with the nonprogressive nature of the mental retardation observed in DMD patients.

Frontonasal Dysplasia, Severe Neuropsychological Delay, and Midline Central Nervous System Anomalies: Report of 10 Brazilian Male Patients

Here we report on 10 male patients with frontonasal dysplasia, cleft lip/palate, mental retardation, lack of language acquisition, and severe central nervous system involvement. Imaging studies disclosed absence of the corpus callosum, midline cysts, and an abnormally modeled cerebellum. Neuronal heterotopias were present in five patients and parieto-occipital encephalocele in three patients. We suggest that this pattern found exclusively in males, most likely represents a newly recognized syndrome distilled from the group of disorders subsumed under frontonasal dysplasia. (C) 2009 Wiley-Liss, Inc.

Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient

We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence that BFSS and Schilbach-Rott syndrome (SRS) are the same condition. (C) 2008 Wiley-Liss, Inc.

Holoprosencephaly, Ectrodactyly, and Bilateral Cleft of Lip and Palate: Exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as Candidate Genes

We describe a Brazilian boy with semilobar holoprosencephaly, ectrodactyly, bilateral cleft of lip and palate, and severe mental retardation. The karyotype was normal and the screening for mutations in the genes SHH, TGIF, SIX3, GLI2 TP73L, and DHCR7 did not show any change. This rare condition was described previously in seven male patients. Clinical and genetic aspects are discussed. (C) 2009 Wiley-Liss, Inc.

Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment and normal karyotypes. A few cases have been reported of mental impairment with microdeletions comprising tumor suppressor genes. By array-CGH we detected 4 mentally impaired individuals carrying de novo microdeletions sharing an overlapping segment of similar to 180 kb in 17p13.1. This segment encompasses 18 genes, including 3 involved in cancer, namely KCTD11/REN, DLG4/PSD95, and GPS2. Furthermore, in 2 of the patients, the deletions also included TP53, the most frequently inactivated gene in human cancers. The 3 tumor suppressor genes KCTD11, DLG4, and GPS2, in addition to the GABARAP gene, have a known or suspected function in neuronal development and are candidates for causing mental impairment in our patients. Among our 4 patients with deletions in 17p13.1, 3 were part of a Brazilian cohort of 300 mentally retarded individuals, suggesting that this segment may be particularly prone to rearrangements and appears to be an important cause (similar to 1%) of mental retardation. Further, the constitutive deletion of tumor suppressor genes in these patients, particularly TP53, probably confers a significantly increased lifetime risk for cancer and warrants careful oncological surveillance of these patients. Constitutional chromosome deletions containing tumor suppressor genes in patients with mental impairment or congenital abnormalities may represent an important mechanism linking abnormal phenotypes with increased risks of cancer. Copyright (C) 2009 S. Karger AG, Basel

UBE2A Deficiency Syndrome: Mild to Severe Intellectual Disability Accompanied by Seizures, Absent Speech, Urogenital, and Skin Anomalies in Male Patients

We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies were present in all three patients. Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge. These clinical features overlap with those described in two patients from a family with a similar deletion at Xq24 that also includes UBE2A, and in several patients of Brazilian and Polish families with point mutations in UBE2A. Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present inpatients with a point mutation, which might be attributed to the deletion of SLC25A5. Taken together, the UBE2A deficiency syndrome in male patients with a mutation in or a deletion of UBE2A is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck. (C) 2010 Wiley-Liss, Inc.

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype (similar to 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males. Such duplications are non-recurrent and can be generated by a non-homologous end joining (NHEJ) mechanism. We investigated the potential mechanisms for MECP2 duplication and examined whether genomic architectural features may play a role in their origin using a custom designed 4-Mb tiling-path oligonucleotide array CGH assay. Each of the 30 patients analyzed showed a unique duplication varying in size from similar to 250 kb to similar to 2.6 Mb. Interestingly, in 77% of these non-recurrent duplications, the distal breakpoints grouped within a 215 kb genomic interval, located 47 kb telomeric to the MECP2 gene. The genomic architecture of this region contains both direct and inverted low-copy repeat (LCR) sequences; this same region undergoes polymorphic structural variation in the general population. Array CGH revealed complex rearrangements in eight patients; in six patients the duplication contained an embedded triplicated segment, and in the other two, stretches of non-duplicated sequences occurred within the duplicated region. Breakpoint junction sequencing was achieved in four duplications and identified an inversion in one patient, demonstrating further complexity. We propose that the presence of LCRs in the vicinity of the MECP2 gene may generate an unstable DNA structure that can induce DNA strand lesions, such as a collapsed fork, and facilitate a Fork Stalling and Template Switching event producing the complex rearrangements involving MECP2.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. Aim: We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. Results: We estimate the prevalence of the syndrome to be 1 in 16 000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney/urologic anomalies. Using high resolution oligonucleotide arrays we narrow the 17q21.31 critical region to a 424 kb genomic segment (chr17: 41046729-41470954, hg17) encompassing at least six genes, among which is the gene encoding microtubule associated protein tau (MAPT). Mutation screening of MAPT in 122 individuals with a phenotype suggestive of 17q21.31 deletion carriers, but who do not carry the recurrent deletion, failed to identify any disease associated variants. In five deletion carriers we identify a <500 bp rearrangement hotspot at the proximal breakpoint contained within an L2 LINE motif and show that in every case examined the parent originating the deletion carries a common 900 kb 17q21.31 inversion polymorphism, indicating that this inversion is a necessary factor for deletion to occur (p< 10(25)). Conclusion: Our data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder.

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Recurrent submicroscopic genomic copy number changes are the result of nonallelic homologous recombination (NAHR). Nonrecurrent aberrations, however, can result from different nonexclusive recombination-repair mechanisms. We previously described small microduplications at Xq28 containing MECP2 in four male patients with a severe neurological phenotype. Here, we report on the fine-mapping and breakpoint analysis of 16 unique microduplications. The size of the overlapping copy number changes varies between 0.3 and 2.3 Mb, and FISH analysis on three patients demonstrated a tandem orientation. Although eight of the 32 breakpoint regions coincide with low-copy repeats, none of the duplications are the result of NAHR. Bioinformatics analysis of the breakpoint regions demonstrated a 2.5-fold higher frequency of Alu interspersed repeats as compared with control regions, as well as a very high GC content (53%). Unexpectedly, we obtained the junction in only one patient by long-range PCR, which revealed nonhomologous end joining as the mechanism. Breakpoint analysis in two other patients by inverse PCR and subsequent array comparative genomic hybridization analysis demonstrated the presence of a second duplicated region more telomeric at Xq28, of which one copy was inserted in between the duplicated MECP2 regions. These data suggest a two-step mechanism in which part of Xq28 is first inserted near the MECP2 locus, followed by breakage-induced replication with strand invasion of the normal sister chromatid. Our results indicate that the mechanism by which copy number changes occur in regions with a complex genomic architecture can yield complex rearrangements.

An insight into implementing person-centred active support

This paper provides reflections on the implementation of an active support staff training programme for staff working in community residential facilities for adults with an intellectual disability. Outcomes for the people with an intellectual disability were consistent with recent research findings indicating that active support can lead to improved opportunities for participation in everyday activities within the home. We propose that the success of the training programme was largely influenced by three key elements: ensuring that there is expertise in, and support for, this approach to service provision among key service managers, provision of in vivo one-to-one practical staff training in addition to classroom-based theoretical input, and inclusion of elements of person-centred planning approaches in combination with active support. Future research should focus on how best to maximise the effectiveness of active support staff training.

Conceptualization, measurement, and application of quality of life for persons with intellectual disabilities: report of an international panel of experts

In this article a number of issues involving the concept of quality of life as applied to persons with intellectual disabilities are summarized, and a number of agreed-upon principles regarding its conceptualization, measurement, and application are presented. We realize that the concepts and models presented in this article will vary potentially from country to country, and even from area to area within countries. The cross-cultural understanding of the concept of quality of life is in its infancy, and we hope that the discourses resulting from the material presented in this article will facilitate both cross-cultural understanding and collaborative work. The article reflects current thought about the conceptualization, measurement, and application of this increasingly important and widely used concept in the field of intellectual disabilities and sets the stage for its continuing development.