Multi-sensory treatment for children with developmental motor speech disorders

What this paper adds? What is already known on the subject? Multi-sensory treatment approaches have been shown to impact outcome measures positively, such as accuracy of speech movement patterns and speech intelligibility in adults with motor speech disorders, as well as in children with apraxia of speech, autism and cerebral palsy. However, there has been no empirical study using multi-sensory treatment for children with speech sound disorders (SSDs) who demonstrate motor control issues in the jaw and orofacial structures (e.g. jaw sliding, jaw over extension, inadequate lip rounding/retraction and decreased integration of speech movements). What this paper adds? Findings from this study indicate that, for speech production disorders where both the planning and production of spatiotemporal parameters of movement sequences for speech are disrupted, multi-sensory treatment programmes that integrate auditory, visual and tactile–kinesthetic information improve auditory and visual accuracy of speech production. The training (practised in treatment) and test words (not practised in treatment) both demonstrated positive change in most participants, indicating generalization of target features to untrained words. It is inferred that treatment that focuses on integrating multi-sensory information and normalizing parameters of speech movements is an effective method for treating children with SSDs who demonstrate speech motor control issues.

Frontal networks in adults with autism spectrum disorder

It has been postulated that autism spectrum disorder is underpinned by an ‘atypical connectivity’ involving higher-order association brain regions. To test this hypothesis in a large cohort of adults with autism spectrum disorder we compared the white matter networks of 61 adult males with autism spectrum disorder and 61 neurotypical controls, using two complementary approaches to diffusion tensor magnetic resonance imaging. First, we applied tract-based spatial statistics, a ‘whole brain’ non-hypothesis driven method, to identify differences in white matter networks in adults with autism spectrum disorder. Following this we used a tract-specific analysis, based on tractography, to carry out a more detailed analysis of individual tracts identified by tract-based spatial statistics. Finally, within the autism spectrum disorder group, we studied the relationship between diffusion measures and autistic symptom severity. Tract-based spatial statistics revealed that autism spectrum disorder was associated with significantly reduced fractional anisotropy in regions that included frontal lobe pathways. Tractography analysis of these specific pathways showed increased mean and perpendicular diffusivity, and reduced number of streamlines in the anterior and long segments of the arcuate fasciculus, cingulum and uncinate—predominantly in the left hemisphere. Abnormalities were also evident in the anterior portions of the corpus callosum connecting left and right frontal lobes. The degree of microstructural alteration of the arcuate and uncinate fasciculi was associated with severity of symptoms in language and social reciprocity in childhood. Our results indicated that autism spectrum disorder is a developmental condition associated with abnormal connectivity of the frontal lobes. Furthermore our findings showed that male adults with autism spectrum disorder have regional differences in brain anatomy, which correlate with specific aspects of autistic symptoms. Overall these results suggest that autism spectrum disorder is a condition linked to aberrant developmental trajectories of the frontal networks that persist in adult life.

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.

Short-Term Effects of the Use of Non-Rigid Tools for Postural Control by Adults with Intellectual Disabilities

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Short-Term Effects of the Use of Non-Rigid Tools for Postural Control by Adults with Intellectual Disabilities

We tested the short-term effects of a nonrigid tool, identified as an "anchor system" (e.g., ropes attached to varying weights resting on the floor), on the postural stabilization of blindfolded adults with and without intellectual disabilities (ID). Participants held a pair of anchors one in each hand, under three weight conditions (250 g, 500 g and 1,000 g), while they performed a restricted balance task (standing for 30 s on a balance beam placed on top of a force platform). These conditions were called anchor practice trials. Before and after the practice trials, a condition without anchors was tested. Control practice groups, who practiced blocks of trials without anchors, included individuals with and without ID. The anchor system improved subjects' balance during the standing task, for both groups. For the control groups, the performance of successive trials in the condition without the anchor system showed no improvement in postural stability. The individuals with intellectual disability, as well as their peers without ID, used the haptic cues of nonrigid tools (i.e., the anchor system) to stabilize their posture, and the short-term stabilizing effects appeared to result from their previous use of the anchor system.

Inflammatory and Immunological parameters in adults with Down syndrome

Abstract Background The increase in life expectancy within the general population has resulted in an increasing number of elderly adults, including patients with Down syndrome (DS), with a current life expectancy of about 50 years. We evaluate the parameters of humoral and cellular immune response, the quantitative expression of the regulator of calcineurin1 gene (RCAN1) and the production of cytokines. The study group consisted of adults DS (n = 24) and a control group with intellectual disability without Down syndrome (ID) (n = 21) and living in a similar environmental background. It was evaluated serology, immunophenotyping, the quantitative gene expression of RCAN1 and the production of cytokines. Results In the DS group, the results showed an increase in NK cells, CD8, decreased CD19 (p < 0.05) and an increase spontaneous production of IFNgamma, TNFalpha and IL-10 (p < 0.05). There was not any difference in RCAN1 gene expression between the groups. Conclusions These data suggest a similar humoral response in the two groups. The immunophenotyping suggests sign of premature aging of the immune system and the cytokine production show a proinflammatory profile.

Surgical technique: The capsular arthroplasty: a useful but abandoned procedure for young patients with developmental dysplasia of the hip

Codivilla in 1901, Hey Groves in 1926, and Colonna in 1932 described similar capsular arthroplasties--wrapping the capsule around the femoral head and reducing into the true acetabulum--to treat completely dislocated hips in children with dysplastic hips. However, these procedures were associated with relatively high rates of necrosis, joint stiffness, and subsequent revision procedures, and with the introduction of THA, the procedure vanished despite some hips with high functional scores over periods of up to 20 years. Dislocated or subluxated hips nonetheless continue to be seen in adolescents and young adults, and survival curves of THA decrease faster for young patients than for patients older than 60 years. Therefore, joint preservation with capsular arthroplasty may be preferable if function can be restored and complication rates reduced.

Domestic abuse and neglect of adults with disabilities : study and demonstration act PA 84-881 : a report to the General Assembly and the Governor.

"April 1, 1986."

Helping families understand options in planning for their family member with a disability.

"This manual was funded through a grant from the Illinois Council on Developmental Disabilities"

Illinois submission for ... under Public law 99-660 "The State Comprehensive Mental Health Services Plan Act of 1986" and Public law 601-639 "Mental Health Amendments of 1990" for adults with serious mental illness.

Description based on: Sept. 30,1991.

Programs for individuals with developmental disabilities.

Includes a directory of agencies and organizations providing services to individuals with developmental disabilities in Illinois.

Environmental factors that influence the community participation of adults with aphasia: The perspective of service industry workers

Background: The loss of language and the inability to communicate effectively as a result of aphasia often affects community participation. Within the World Health Organisation International Classification of Functioning, Disability and Health, disability is recognised as a dynamic interaction between the individual's health condition, such as aphasia, and his or her personal and environmental factors. There has been little research identifying the environmental facilitators and barriers to participation for people with aphasia in the community, and no research focusing on the perspective of service industry workers. Aims: This study aimed to identify barriers and facilitators to community participation for adults with aphasia from the perspective of service industry workers. Methods & Procedures: Eight focus groups were conducted with 24 service industry employees. Transcripts of the focus group discussions were analysed using qualitative content analysis procedures, and barriers to and facilitators for participation of people with aphasia were identified. Outcomes & Results: Results revealed that the participation of people with aphasia in the community can be affected by many environmental factors within three broad categories: (1) people environmental factors, (2) physical environmental factors, and (3) business or organisational environmental factors. Conclusions: Service industry employees were able to identify a range of factors that would act as barriers and facilitators for people with aphasia. Some of the more significant findings include the lack of other people's awareness about aphasia, the willingness of service industry workers at the individual level to accommodate people with aphasia, and the difficulty in making the necessary system, policy, and procedural changes at the organisational level. Speech pathologists are encouraged to assist service industry providers to be more aphasia-friendly through education and training, in addition to assisting people with aphasia to become self-advocates.

Personalised social care for adults with disabilities: A problematic concept for frontline practice

This paper explores the complexities and contradictions of frontline practice that pose problems for personalised social care through enhanced choice. It draws on semi-structured interviews with community care workers, social workers, occupational therapists and care managers in a social service department. Practitioners interviewed were asked about their current assessment and documentation system, including the assessment documents currently used; how they approached information gathering and the topics they explored with service users; and their experience of documenting assessment and care management. The paper argues that the validity and sustainability of personalised social care in frontline practice relies on developing a thorough understanding of the complex and implicit assessment processes operating at the service user/practitioner interface and the inevitable tensions that arise for practitioners associated with the organisational context and broader service environment. The findings demonstrate the variability among practitioners in how they collect information and more importantly, the critical role practitioners occupy in determining the kinds of topics to be explored during the assessment process. In so doing, it shows how practitioners can exert control over the decision-making process. More importantly, it provides some insight into how such processes are shaped by the constraints of the organisational context and broader service environment. Complexities and contradictions may be an inherent part of frontline practice. The issues discussed in this paper, however, highlight potential areas that might be targeted in conjunction with implementing personalised social care through enhanced choice for people with disabilities.

Theory of mind and central coherence in adults with high-functioning autism or Asperger syndrome

The study investigated theory of mind and central coherence abilities in adults with high-functioning autism (HFA) or Asperger syndrome (AS) using naturalistic tasks. Twenty adults with HTA/AS correctly answered significantly fewer theory of mind questions than 20 controls on a forced-choice response task. On a narrative task, there were no differences in the proportion of mental state words between the two groups, although the participants with HFA/AS were less inclined to provide explanations for characters' mental states. No between-group differences existed on the central coherence questions of the forced-choice response task, and the participants with HTA/AS included an equivalent proportion of explanations for non-mental state phenomena in their narratives as did controls. These results support the theory of mind deficit account of autism spectrum disorders, and suggest that difficulties in mental state attribution cannot be exclusively attributed to weak central coherence.