bluuebunny/crossref_metadata_2025 huggingface dataset:
Overcoming Barriers to the Sexual Expression of Women with Developmental Disabilities
Authors: Stinson Jennifer , Christian LeeAnn , Dotson Lori Ann
Published: June 2006

Sexuality cannot be overlooked as an important component of one's quality of life. Yet, the complexities of human sexuality and the unique needs of subgroups of individuals often hinder appropriate attention to issues of sexuality for people with developmental disabilities. Although there is much overlap between men's and women's needs, the limited body of research on this topic indicates that women with developmental disabilities face their own distinct barriers to enjoying sexual fulfillment. These include, but are not limited to, inadequate access to gynecological healthcare, limited choices regarding reproductive issues, lack of sex education, and prevailing negative and conflicting stereotypes that impact the way women are viewed by others and the way they view themselves. This article identifies and examines these issues with attention to the relevant literature and provides recommendations for surmounting these barriers.
The Perspectives of Individuals with Cognitive Disabilities and/or Autism on Their Lives and Their Problem Behavior
Authors: Ruef Michael B. , Turnbull Ann P.
Published: June 2006

The purpose of the study was 2-fold: (a) to explore the perceptions of individuals with cognitive disabilities and/ or autism regarding barriers and solutions they have experienced related to problem behavior, and (b) to elicit suggestions on areas viewed as most helpful in increasing quality of life while reducing or eliminating problem behavior. A qualitative method of inquiry using focus groups and individual interviews was used. Several themes emerged from the focus groups, including the difficulties participants experienced with communication; participants' need for personal decision making and privacy; and the importance of recreation, employment, selection of living situations, and relationships with friends and family members. The article indicates the importance of listening carefully to individuals with disabilities as a first step in improving the quality of their lives.
Development and Social Competence after Two Years for Students Enrolled in Inclusive and Self-Contained Educational Programs
Authors: Fisher Mary , Meyer Luanna H.
Published: June 2006

Inclusive programs increasingly have become available for students with severe disabilities, enabling them to receive special education services and supports in general education classes alongside their non-disabled peers. Forty students in two groups were assessed across two years of inclusive versus self-contained educational programming, comparing outcomes on measures of child development and social competence with the Scales of Independent Behavior (SIB) and the Assessment of Social Competence (ASC). Participants were assessed on the SIB and ASC, matched into pairs on chronological age and SIB total scores at first testing, and reassessed after two additional years of either inclusive or self-contained schooling. The inclusive student group made statistically significant gains on the developmental measure and realized higher social competence scores in comparison to the self-contained group at follow-up. Examination of gains on these measures irrespective of group affiliation indicated that participants made small, but significant, gains in two of four skill clusters assessed by the SIB and three of eleven dimensions of the ASC. These results challenge a common assumption that selfcontained settings in comparison to inclusive settings will result in superior gains on students' IEP-related skill domains. They also support previous research showing social competence gains as a function of inclusion. Results are discussed in terms of expected change over time for students with severe disabilities, the implications of variations from the group results that occurred for individual students, and future research needed on the outcomes of quality inclusive schooling for students with severe disabilities.
Engagement with Toys in Two-Year-Old Children with Autism: Teacher Selection versus Child Choice
Authors: Reinhartsen Debra B. , Garfinkle Ann N. , Wolery Mark
Published: June 2006

This article compared two conditions (teacher selection of toys and child choice of toys) on the amount of time children were engaged appropriately with toys. An alternating treatment design was used, and three 2-year-old boys with autism participated. In the teacher-selected condition, the teacher gave the child a toy; and in the child-choice condition, the teacher gave the child a choice between two toys. The toys were selected from a pool of toys based on each child's frequency of contact with the toys from measures taken before the study started. A 5-second momentary time sampling procedure was used during daily 10-min sessions to measure the child's engagement with toys, nonengagement, and problematic behaviors. The teacher's behaviors (physical prompt, modeling, talking, silent observation, and other) also were measured. The data suggest the child-choice condition resulted in more engaged time for each participant and fewer problematic behaviors for two of the three boys. The results are discussed in terms of clinical applications and future research.
Hispanic Youth/Young Adults with Disabilities: Parents' Visions for the Future
Authors: Blue-Banning Martha , Turnbull Ann P. , Pereira Lourdes
Published: June 2006

The rapid increase of culturally and linguistically diverse populations in the United States has important implications for service delivery. Addressing the needs of individuals transitioning from adolescence to adulthood and their families requires that outcomes of service recognize the cultural differences of people with disabilities. The Hispanic population is one of the fastest growing of the culturally and linguistically diverse populations in the United States. To provide effective support services, a clearer understanding is needed of the perspectives of Hispanic parents of youth/young adults with disabilities concerning their hopes and expectations for their child's future. To address this issue, focus group interviews were conducted with 38 Hispanic parents of youth/young adults with developmental disabilities. The findings suggest that Hispanic parents have a diversity of hopes and expectations concerning future living, employment, and free-time options for their children with disabilities. Key recommendations focus on the implications for education and human service systems as well as directions for future research.
Nonverbal Narratives: Listening to People with Severe Intellectual Disability
Authors: Dennis Rea
Published: June 2006

This article describes an exploratory study that examined the perspectives of practitioners who spend much of their working day listening to and in some ways “interpreting” for people with severe intellectual disabilities. On the basis of focus group interviews with 23 professional disability-sector workers, including speech therapists, psychologists, and human service workers, the article reports on the importance of a practitioner's values and experience in successful interactions with individuals who rely on self-developed nonsymbolic communication repertoires. The article includes a discussion of the likelihood of including individuals with severe intellectual disabilities in narrative research.
How Science Can Evaluate and Enhance Person-Centered Planning
Authors: Holburn Steve
Published: June 2006

This article argues that the popular, but at times, misapplied approaches of person-centered planning can be remedied through scientific practices. Person-centered planning is described in the context of an evolving disabilities culture that is selecting practices that achieve the values of the new paradigm. Operationalizing outcomes that constitute aspects of quality of life (QOL) can be challenging, but the main obstacle to an empirical analysis of person-centered planning appears to be reliable implementation of its complex process. Resolution of these problems is seen as a cutting edge for expanding our applied research technology in assisting people with disabilities achieve the values to which they aspire.
Transitions between School and Hospital for Students with Multiple Disabilities: A Survey of Causes, Educational Continuity, and Parental Perceptions
Authors: Borgioli Jennifer A. , Kennedy Craig H.
Published: June 2006

We studied the causes, educational continuity, and parental perceptions associated with students with multiple disabilities transitioning from school to hospital. A sample from the southeastern United States was obtained for students who had been hospitalized during the previous 5 years. Interviews were conducted with the families of those students to collect information relating to their hospitalization and educational programming. A series of close-ended questions revealed that 61% of all hospitalizations were for emergencies and that students were absent from school longer when hospitalizations were scheduled (38 versus 23 days). Only 1 in 46 hospitalizations had a transition plan to deliver educational services while students were absent from school. Open-ended questions revealed two general patterns. First, parents were concerned about the absence of educational services and attempted to improve service delivery. Second, parents were not concerned regarding the absence of educational services, and noted the severity of their child's disability as the reason. Our findings suggest that active efforts to provide transition services are needed for students with multiple disabilities when they are hospitalized.
The Beginnings of Inclusion in the People's Republic of China
Authors: McCabe Helen
Published: June 2006

Education for children with disabilities in the People's Republic of China has experienced significant growth and reform since 1978, the beginning of the period of Reform and Opening ( gaige kaifang). Since that time, models of special education have gradually evolved to include educating children with disabilities in general education classrooms. This article describes special education and early inclusion efforts in China. National projects and local examples of children with disabilities, including children with autism, being included in public schools and educated in general education classrooms are described. Implications for inclusive practices, focusing on the importance of parent efforts, are discussed.
A Preliminary Survey of Professional and Student Opinion of Special Education Practice in Contemporary Russia
Authors: Agran Martin , Boykov Dmitriy
Published: June 2006

Despite pervasive political, economic, and social changes in Russia since the collapse of Soviet rule, it remains uncertain what changes have occurred in special education in the last decade. The purpose of this study was to survey the perceptions of a sample of special educators about the status of special education in contemporary Russia. In addition, the respondents were asked what factors needed to be addressed to produce systems change. Results indicated that the majority of respondents were knowledgeable of and in support of inclusion practices advocated in the United States and Western Europe. However, belief in traditional practices of placing individuals with disabilities in more segregated settings that are somewhat in conflict with contemporary values was also evident. The implications of these findings are discussed.
Obtaining Assistance When Lost in the Community Using Cell Phones
Authors: Taber Teresa A. , Alberto Paul A. , Seltzer Allison , Hughes Melissa
Published: June 2006

This study replicated previous findings that established a five-level, least-to-most prompting system in conjunction with total task presentation as a successful method for teaching students with moderate cognitive disabilities to gain assistance when lost in the community. The present investigation extended previous findings for those students who were unable to identify when they were lost or were unable to independently dial a cell phone to call for assistance. A multiple probe design across students was used to illustrate the effects of intervention on acquisition of cell phone use. The results indicated that all students successfully learned to either answer a ringing cell phone and provide the caller with detailed information about their physical location or use the speed dial function of a cell phone to call for assistance when lost in school and community settings. Limitations and suggestions for future investigations are provided.
A Palmtop Computer-Based Intelligent Aid for Individuals with Intellectual Disabilities to Increase Independent Decision Making
Authors: Davies Daniel K. , Stock Steven E. , Wehmeyer Michael L.
Published: June 2006

This study reports the evaluation of a software prompting system operating on a Pocket PC model palmtop computer designed to facilitate decision making for individuals with intellectual disabilities. It was hypothesized that such a system would provide measurable improvement in the ability of individuals with intellectual disabilities to navigate more independently decision points in a task. The results provide evidence demonstrating the utility of Pocket Compass, a portable software system that utilizes intelligent audio and visual cues to help individuals with intellectual disabilities navigate through the cognitive process of making appropriate decisions when completing a vocational task. A total of 40 adults with intellectual disabilities participated in a beta test designed to evaluate the effectiveness of the prototype software system. The results demonstrated that the Pocket Compass approach can successfully be used by individuals with intellectual disabilities in a self-directed manner to increase independence and accuracy on vocational tasks.
Instruction and Assessment: How Students with Deaf-Blindness Fare in Large-Scale Alternate Assessments
Authors: White Maria Thomas , Garrett Brent , Kearns Jacqueline Farmer , Grisham-Brown Jennifer
Published: June 2006

The purpose of this article is to report the results from a study examining the relationship between educational experiences for students with deaf-blindness and large-scale alternate assessment outcomes. Individualized education plans (IEPs) and instructional practices for 24 students were observed for indicators of best practices for students with deaf-blindness and severe cognitive disabilities. Results indicate that students who had greater opportunities for developing communication and social skills also had better outcomes on a statewide large-scale assessment, yet there was no relationship between assessment outcomes and the quality of a student's IEP or overall instructional programming.
Facilitation Strategies Used by Job Coaches in Supported Employment Settings: A Preliminary Investigation
Authors: Ohtake Yoshi , Chadsey Janis G.
Published: June 2006

Coworker perceptions of facilitation strategies provided by job coaches, and needed by coworkers, and discrepancies between facilitation strategies provided by job coaches and those perceived as being needed by co-workers were analyzed in relation to the types and frequency of problems reported to be exhibited by supported employees (N = 83). The results of this preliminary investigation indicated that when the frequency of work problems was low, the majority of the problems resulted in the need for and provision of less intensive facilitation strategies. Coworkers perceived they needed either low or a mixed level of support, not a high level of support, even when the frequency of work problems was high, except when the problems were related to challenging behaviors such as self-injury and property destruction. The most intriguing finding was that job coaches generally used the level of facilitation strategies that matched coworker needs.
The Development of an Inclusive Charter Elementary School: Lessons Learned
Authors: Downing June E. , Spencer Sally , Cavallaro Claire
Published: June 2006

The purpose of this study was to examine the startup of a charter elementary school specifically designed to be fully inclusive. Twenty-one adult stakeholders, including parents, teachers, staff, and an administrator, were interviewed and asked a series of questions designed to solicit information about what they identified as strengths and challenges in the first year of the school. Four major themes emerged from these interviews: Components critical to the operation of the school, initial challenges overcome, positive outcomes, and ongoing challenges. Areas of interest emerging from the study include the distribution of services for students with disabilities, the need for a challenging curriculum for all students, and the university–school district partnership.
Recapturing Desired Family Routines: A Parent-Professional Behavioral Collaboration
Authors: Buschbacher Pamelazita , Fox Lise , Clarke Shelley
Published: June 2006

Children with complex disabilities such as autism spectrum disorders and Landau Kleffner syndrome often lack means to participate in everyday family routines. Serious problem behaviors may result from their challenges in responding to and initiating communicative interactions. These behaviors can change routine family activities such that the child and other family members (parents, siblings) are dissatisfied with these routines. The purpose of this study was to examine the use of functional assessment and positive behavior support carried out in equal partnership with family members to reduce a child's challenging behavior and increase his or her engagement in three family-chosen home activities. A multiple-baseline design across routines was used to determine the effectiveness of intervention in reducing challenging behavior and increasing engagement in the routines. Additionally, the study explored outcomes for positive and negative parent–child interactions within the three –targeted routines. Following parent implementation of positive behavior support, results indicated (1) reductions in challenging behavior, (2) increases in the child's engagement, (3) increases in positive parent–child interactions, (4) decreases in negative parent–child interactions, and (5) increased number of days that the child slept through the night. Social validation by parent observers provided additional support for the effect of the intervention on the child's behavior and child–parent interaction.
Validating the Construct of Coercion in Family Routines: Expanding the Unit of Analysis in Behavioral Assessment with Families of Children with Developmental Disabilities
Authors: Lucyshyn Joseph M. , Irvin Larry K. , Blumberg E. Richard , Laverty Robelyn , Horner Robert H. , Sprague Jeffrey R.
Published: June 2006

We conducted an observational study of parent-child interaction in home activity settings (routines) of families raising young children with developmental disabilities and problem behavior. Our aim was to empirically investigate the construct validity of coercion in typical but unsuccessful family routines. The long-term goal was to develop an expanded ecological unit of analysis that may contribute to sustainable behavioral family intervention. Ten children with autism and/or mental retardation and their families participated. Videotaped observations were conducted in typical but unsuccessful home routines. Parent-child interaction in routines was coded in real time and sequential analyses were conducted to test hypotheses about coercive processes. Following observation, families were interviewed about the social validity of the construct. Results confirmed the presence of statistically significant, attention-driven coercive processes in routines in which parents were occupied with non-child-centered tasks. Results partially confirmed the presence of escape-driven coercive processes in routines in which parent demands are common. Additional analysis revealed an alternative pattern with greater magnitude. Family perspectives suggested the social validity of the construct. Results are discussed in terms of preliminary, partial evidence for coercive processes in routines of families of children with developmental disabilities. Implications for behavioral assessment and intervention design are discussed.
A Systematic Desensitization Paradigm to Treat Hypersensitivity to Auditory Stimuli in Children with Autism in Family Contexts
Authors: Koegel Robert L. , Openden Daniel , Koegel Lynn Kern
Published: June 2006

Many children with autism display reactions to auditory stimuli that seem as if the stimuli were painful or otherwise extremely aversive. This article describes, within the contexts of three experimental designs, how procedures of systematic desensitization can be used to treat hypersensitivity to auditory stimuli in three young children with autism. Stimuli included the sounds from a vacuum cleaner, blender, hand-mixer, toilet flushing, and specific animal sounds from musical toys. A changing criterion design was used and data were collected on (a) the number of hierarchical steps completed as comfortable with the stimulus per week and (b) the mean level of anxiety per probe. A clinical replication was implemented using a replication of the desensitization procedures for three children. In addition, a systematic replication across three different stimuli is presented for one child in a multiple baseline. The data show that the children's responses could be modified to the point where they were comfortable with these noises. Furthermore, this level of comfort was maintained at follow-up. The discussion suggests that the extreme reactions to auditory stimuli many children with autism exhibit may be decreased with procedures that have been shown to be effective with reducing phobias, and the possibility that the reactions may be symptomatic of a phobia rather than actual pain.
Fostering Choice-Making Skills: We've Come a Long Way But Still Have a Long Way to Go
Authors: Bambara Linda M.
Published: June 2006

Freedom is not merely the opportunity to do as one pleases; neither is it merely the opportunity to choose between set alternatives. Freedom is, first of all, the chance to formulate the available choices, to argue over them—and then, the opportunity to choose. (C. Wright Mills)
Snapshots of Life: Perspectives of School-Aged Individuals with Developmental Disabilities
Authors: Dyches Tina Taylor , Cichella Elizabeth , Olsen Susanne Frost , Mandleco Barbara
Published: June 2006

The perspective of children with developmental disabilities regarding what is important is not fully understood due to limited means by which accurate data are collected. Many researchers rely upon teachers, parents, and siblings to provide information regarding the lives of children with developmental disabilities. This study differs from most because primary informants were 15 school-aged individuals with disabilities who took snapshots of that which they reported to be important to them. Their ability to take pictures was examined and themes were determined through content analysis. Results indicate these participants can take usable snapshots, which frequently focus on family; other themes of the photographs included friends, objects, and buildings. This preliminary study suggests that photography may be one way to allow students with developmental disabilities to contribute information regarding what they value in their lives.
Evaluating the Educational Experiences of Students with Profound and Multiple Disabilities in Inclusive and Segregated Classroom Settings: An Australian Perspective
Authors: Foreman Phil , Arthur-Kelly Michael , Pascoe Sue , King Brian Smyth
Published: June 2006

An increasing amount of research attention is being directed toward the educational experiences of students with profound and multiple disabilities. One technique that has allowed a better understanding of alertness and involvement in members of this population is behavior state assessment. In this study, eight matched pairs of school-aged students with profound and multiple disabilities were observed for one full day in either a segregated classroom or an inclusive classroom in Australian schools. Behavior states were systematically observed and recorded, along with several contextual indicators including measures of communicative behaviors, activity, and social grouping. Despite the absence of significant differences in most observed student behavior states between the two settings, the students observed in general classrooms in this investigation were involved in significantly higher levels of communicative interaction than their matched peers in special classrooms. Differences in the frequency of the communicative partners in the two settings were also observed. The implications of these findings are discussed in terms of enrollment practices, staff development issues, and the development of inclusive curriculum and instruction.
“Imagine All the People, Sharing…” or a (Not So) Modest Proposal Made on the Eve of IDEA Reauthorization
Authors: Zuna Nina , Turnbull Rud
Published: June 2006

The authors present a brief commentary and analysis of two problems related to 30 years of IDEA implementation: An increasing schism between general education and special education, and the unequal treatment of an entire class of students. Over the years, special education has become its own microcosm of programs and practices, making it difficult to realize an interdisciplinary approach to the education of all students. The authors analyze the possible sociopsychological implications of the categorization of students. They end with their vision of the unification of general education and special education into one education system for all students.
Adult Day Programs versus Supported Employment (1988–2002): Spending and Service Practices of Mental Retardation and Developmental Disabilities State Agencies
Authors: Rusch Frank R. , Braddock David
Published: June 2006

While supported employment has made significant gains since its formal introduction in 1984 (P.L. 98–527), segregated services continue to outpace the growth of supported employment. We discuss these and other important trends in this article, and conclude with recommendations that include (1) ensuring that all young adults leave high school competitively used or admitted to postsecondary education by age 18 and (2) that high schools coordinate post-placement follow-up for 3 years following employment or enrollment in postsecondary education. These recommendations are made because although current research suggests practices exist to employ persons with severe disabilities outside sheltered workshops and adult day care centers, these programs continue to grow at an alarming rate. In fact, the growth of supported employment has all but stalled since 2000. Diverting people and resources at the juncture between high school preparation and assuming adult roles such as employment appears to be a more realistic plan to promote integrated services over the foreseeable future.
Teachers' Perceptions of Alternate Assessments
Authors: Flowers Claudia , Ahlgrim-Delzell Lynn , Browder Diane , Spooner Fred
Published: June 2006

The purpose of this study was to examine teachers' perceptions of alternate assessments. A total of 983 teachers from five states participated in this study. The results suggest that teachers tended to agree that their students should be included in school accountability, but they did not agree with most items assessing the educational benefits of alternate assessments. Teachers reported that the most significant impact of alternate assessments is the increase in paperwork and demands on their time. In contrast, when teachers perceive alternate assessments counting in school accountability systems, more teachers report a positive impact for alternate assessments. Significant differences in positive impact of alternate assessment between testing approaches (i.e., portfolio, performance-based, checklist) were also found. Implications and recommendations are discussed
Growth hormone therapy and scoliosis in patients with Prader–Willi syndrome
Authors: Nagai T. , Obata K. , Ogata T. , Murakami N. , Katada Y. , Yoshino A. , Sakazume S. , Tomita Y. , Sakuta R. , Niikawa N.
Published: June 2006

Growth hormone (GH) therapy for short stature in patients with Prader–Willi syndrome (PWS) has started worldwide, and various favorable effects have been reported. However, the possibility of progression of scoliosis arises as a new problem of the GH therapy. In this study, we analyzed whether 72 patients who have been followed up in our hospital have such a problem. They included 46 males and 26 females (41 patients with the GH therapy and 31 without it) aged from one to 49 years. Consequently, 33 (45.8%) of 72 patients had scoliosis with the Cobb angle of >10 degrees. Twenty (48.8%) of forty‐one patients who received a GH therapy and 13 (41.9%) of 31 patients without the therapy had scoliosis, the frequency of scoliosis between the two groups showing no statistical difference (P = 0.56). Height velocity of scoliotic and non‐scoliotic patients during the first year of the therapy was 8.59 ± 1.92 and 10.70 ± 2.54 cm, respectively, showing a significant difference (P < 0.001). This shows that accelerated height velocity may not induce scoliosis. Comparison of starting age of a GH treatment revealed that non‐scoliotic patients received the therapy earlier than scoliotic patients (P = 0.021). Among 20 scoliotic patients who received the GH therapy, the degree of scoliosis progressed during the therapy in six patients, improved in three and fluctuated in one. Many patients showed progression of scoliosis with age irrespective of the use of GH, and some patients improved their scoliosis during the GH therapy. These findings showed that a GH therapy increases height velocity of PWS patients but does not necessarily develop scoliosis, and early start of the therapy may not be an exacerbating factor of scoliosis. © 2006 Wiley‐Liss, Inc.
Mutational and genotype–phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome
Authors: Yan Jiong , Saifi Gulam Mustafa , Wierzba Tomasz H. , Withers Marjorie , Bien‐Willner Gabriel A. , Limon Janusz , Stankiewicz Paweł , Lupski James R. , Wierzba Jolanta
Published: June 2006

Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by prenatal and postnatal growth retardation, developmental delay, distinctive facial dysmorphism, limb malformations, and multiple organ defects. Mutations in the NIPBL gene have been discovered recently as a major etiology for this syndrome, and were detected in 27–56% of patients. Two groups have found significant differences in the severity or penetrance of some phenotypes between mutation positive and mutation negative patients. Different clinical features have also been described among patients with missense versus truncating mutations. In this study, we identified 13 NIPBL mutations in 28 unrelated Polish CdLS patients (46.4%), 11 were novel. Mutation positive patients were more severely affected in comparison to mutation negative individuals with respect to weight, height, and mean head circumference at birth, facial dysmorphism and speech impairment. Analyses of combined data from this and the two previous studies revealed that the degree of growth, developmental delay and limb defects showed significant differences between patients with and without mutations and between patients with missense and truncating mutations, whereas only a portion of these features differed significantly in any individual study. Furthermore, bioinformatic analyses of the NIPBL protein revealed several novel domains, which may give further clues about potential functions of this protein. © 2006 Wiley‐Liss, Inc.
A newly recognized autosomal recessive syndrome with short stature and oculo‐skeletal involvement
Authors: Mégarbané André , Ghanem Ismat , Waked Naji , Dagher Fernand
Published: June 2006

This report describes a young girl and her cousin presenting with postnatal short stature, strabismus, photophobia, retinitis pigmentosa, short neck, rhizomelic shortening of the long bones, short and slightly bowed humeri with prominent deltoid tuberosities, short and wide ribs and clavicles, dorso‐lumbar scoliosis, biconcave vertebral bodies of the thoraco‐lumbar spine, and narrowed lumbar canal. In addition, in the girl there were amelogenesis imperfecta of the hypomaturation type, and the radiographs showed short distal ulnae, sloping epiphyses of the radii, short femoral necks, and slightly flat uncovered femoral heads. The children's parents are first cousins. Differential diagnoses are discussed and the possibility of a newly recognized oculo‐skeletal syndrome is raised. © 2006 Wiley‐Liss, Inc.
Osteocraniostenosis–hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro‐osseous morphology
Authors: Elliott Alison M. , Wilcox William R. , Spear Gerald S. , Field Fiona M. , Steffensen Thora S. , Friedman Barbara D. , Rimoin David L. , Lachman Ralph S.
Published: June 2006

Osteocraniostenosis is a severe skeletal dysplasia characterized by a hypomineralized skull that has been previously described as kleeblattschädel (cloverleaf skull) and overtubulated long bones. Dysmorphic facial features include a short nose, short philtrum, and a small, inverted V‐shaped mouth. Splenic a/hypoplasia is a constant finding. We report four infants (two unrelated and two siblings) with osteocraniostenosis and describe the clinical, radiographic and chondro‐osseous morphology findings. The two siblings lack the moderate long‐bone shortening that is typically seen. The skull configuration is likely caused by severely hypoplastic cranial bones (parietal) rather than true craniosynostosis, making the term “osteocraniostenosis” misleading. Histological examination of bone in all cases showed an abnormal growth plate with short irregular columns. The resting cartilage showed pleomorphic chondrocytes with increased cellularity and unique pseudocolumn formation. There are some radiographic and chondro‐osseous morphologic similarities between osteocraniostenosis and severe Hallermann–Streiff syndrome (HSS), suggesting the two disorders may be pathogenetically related. © 2006 Wiley‐Liss, Inc.
Formtreue Makrocyclen: Strukturen und Synthesen aus Arylen‐ und Ethinylen‐Bausteinen
Authors: Zhang Wei , Moore Jeffrey S.
Published: June 2006

Formtreue Arylenethinylen‐Makrocyclen mit ihren besonderen Strukturen und Eigenschaften werden für mögliche Anwendungen in der supramolekularen Chemie und den Materialwissenschaften intensiv erforscht. In diesem Aufsatz betrachten wir neuere Beispiele für die Synthese von Makrocyclen durch Kreuzkupplungen (Sonogashira: Arylacetylen‐Makrocyclen, Glaser: Aryldiacetylen‐Makrocyclen) und Methoden der dynamischen kovalenten Chemie. Ein Nachteil der Kupplungsmethoden ist die kinetisch kontrollierte Produktverteilung, da ein erheblicher Anteil der Oligomere über die erwünschte Cyclengröße hinauswächst (“Overshooting”). Bessere Ergebnisse wurden in jüngster Zeit mithilfe der dynamischen kovalenten Strategien auf der Grundlage reversibler Metathesereaktionen erzielt, die formtreue Makrocyclen in nur einem Reaktionsschritt liefern. Mechanistische Untersuchungen belegen, dass diese Form der Makrocyclenbildung ein thermodynamisch kontrollierter Prozess ist. Verbleibende präparative Probleme betreffen die Synthese von spezifisch funktionalisierten Strukturen sowie größeren und komplexeren zweidimensionalen und dreidimensionalen Molekülen.
Shape‐Persistent Macrocycles: Structures and Synthetic Approaches from Arylene and Ethynylene Building Blocks
Authors: Zhang Wei , Moore Jeffrey S.
Published: June 2006

Shape‐persistent arylene ethynylene macrocycles have attracted much attention in supramolecular chemistry and materials science because of their unique structures and novel properties. In this Review we describe recent examples of macrocycle synthesis by cross‐coupling (Sonogashira: aryl acetylene macrocycle or Glaser: aryl diacetylene macrocycle) and dynamic covalent chemistry. The primary disadvantage of the coupling methods is the kinetically determined product distribution, since a significant portion of oligomers grow beyond the length of the cyclic targets (“overshooting”). Better results have been obtained recently by a dynamic covalent approach involving reversible metathesis reactions that afford macrocycles in one step. Mechanistic studies demonstrate that macrocycle formation is thermodynamically controlled by this route. Remaining synthetic challenges include the efficient preparation of site‐specifically functionalized structures and larger, more complex two‐ and three‐dimensional molecules.
The aminergic control of cockroach salivary glands
Authors: Walz Bernd , Baumann Otto , Krach Christian , Baumann Arnd , Blenau Wolfgang
Published: June 2006

The acinar salivary glands of cockroaches receive a dual innervation from the subesophageal ganglion and the stomatogastric nervous system. Acinar cells are surrounded by a plexus of dopaminergic and serotonergic varicose fibers. In addition, serotonergic terminals lie deep in the extracellular spaces between acinar cells. Excitation‐secretion coupling in cockroach salivary glands is stimulated by both dopamine and serotonin. These monoamines cause increases in the intracellular concentrations of cAMP and Ca2+. Stimulation of the glands by serotonin results in the production of a protein‐rich saliva, whereas stimulation by dopamine results in saliva that is protein‐free. Thus, two elementary secretory processes, namely electrolyte/water secretion and protein secretion, are triggered by different aminergic transmitters. Because of its simplicity and experimental accessibility, cockroach salivary glands have been used extensively as a model system to study the cellular actions of biogenic amines and to examine the pharmacological properties of biogenic amine receptors. In this review, we summarize current knowledge concerning the aminergic control of cockroach salivary glands and discuss our efforts to characterize Periplaneta biogenic amine receptors molecularly. Arch Insect Biochem Physiol 62:141–152, 2006. © 2006 Wiley‐Liss, Inc.
PKC‐mediated USP phosphorylation is required for 20E‐induced gene expression in the salivary glands of Drosophila melanogaster
Authors: Sun Xiaoping , Song Qisheng
Published: June 2006

Ecdysone receptor (EcR) and its heterodimer, ultraspiracle protein (USP), are ligand‐dependent transcriptional factors that mediate the action of molting hormone 20‐hydroxyecdysone. The activities of transcriptional factors are subjected to regulation not only by transcriptional/translational mechanisms, but also by posttranslational mechanisms such as phosphorylation. Protein kinase consensus recognition sequence analysis of Drosophila EcR and USP reveals multiple phosphorylation sites for protein kinase C (PKC) and casein kinase II (CKII) on EcR and USP sequence. By using specific protein kinase inhibitors, we have shown that PKC, not CKII, is responsible for USP phosphorylation. Inhibition of PKC activity by protein kinase inhibitors blocked USP phosphorylation, resulting in inhibition of 20E‐induced gene expression at both transcriptional and translational levels. The composite data suggest that PKC‐mediated USP phosphorylation is required for 20E‐induced gene expression in the salivary glands of Drosophila melanogaster. Arch Insect Biochem Physiol 62:116–127, 2006. © 2006 Wiley‐Liss, Inc.
A geophysical approach to buried site detection using down‐hole susceptibility and soil magnetic techniques
Authors: Dalan Rinita A.
Published: June 2006

Recently developed down‐hole magnetic capabilities and laboratory soil magnetic techniques are combined in a geophysical approach to identify buried archaeological sites. Down‐hole magnetic susceptibility measurements are used to locate palaeosols and soil magnetic studies are applied to evaluate whether an associated human occupation is likely. This geophysical approach has the potential to locate and explore buried archaeological deposits across varied environments in a cost‐effective, efficient, and relatively non‐invasive manner.

This approach was developed and tested on sites in Minnesota and North Dakota, USA. Prototype Bartington Instruments MS2H down‐hole sensors allowed identification of major stratigraphical units, buried occupation layers and non‐cultural palaeosols at these sites. Buried soils correlated with enhanced susceptibilities.

Buried cultural soils produced, in some cases, a signal over twice the magnitude of non‐archaeological palaeosols. Although this magnitude shift suggested a possible avenue for determining if ancient land surfaces had been occupied by humans, laboratory soil magnetic techniques, which allow an understanding of changes in composition, concentration and/or grain size of the magnetic carrier that produce this contrast in magnitude, were found to be much more effective in making this determination. These soil magnetic tests were applied to sediments collected from the down‐hole locations.

An increase in magnetic remanence carried in the coarse soil fraction was found to consistently and reliably distinguish those soils associated with human occupation. Investigations into the origin of the magnetic signature have suggested this remanence resides in nodules of burnt clay found in the archaeological soils. As it is suspected that domestic fires produced these clay aggregations, this phenomenon may extend to a wide range of sites and thus provide a technique for buried site identification that is broadly applicable. Copyright © 2006 John Wiley & Sons, Ltd.
Flexible Designs by Adaptive Plans of Generalized Pocock‐ and O'Brien‐Fleming‐Type and by Self‐Designing Clinical Trials
Authors: Hartung Joachim
Published: June 2006

Flexible designs are provided by adaptive planning of sample sizes as well as by introducing the weighted inverse normal combining method and the generalized inverse chi‐square combining method in the context of conducting trials consecutively step by step. These general combining methods allow quite different weighting of sequential study parts, also in a completely adaptive way, based on full information from unblinded data in previously performed stages. So, in reviewing some basic developments of flexible designing, we consider a generalizing approach to group sequentially performed clinical trials of Pocock‐type, of O'Brien‐Fleming‐type, and of Self‐designing‐type. A clinical trial may be originally planned either to show non‐inferiority or superiority. The proposed flexible designs, however, allow in each interim analysis to change the planning from showing non‐inferiority to showing superiority and vice versa.

Several examples of clinical trials with normal and binary outcomes are worked out in detail. We demonstrate the practicable performance of the discussed approaches, confirmed in an extensive simulation study.

Our flexible designing is a useful tool, provided that a priori information about parameters involved in the trial is not available or subject to uncertainty. (© 2006 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
A Regulatory View on Adaptive/Flexible Clinical Trial Design
Authors: Hung H. M. James , O'Neill Robert T. , Wang Sue‐Jane , Lawrence John
Published: June 2006

Recently there is growing interest in use of adaptive or flexible designs for development of pharmaceutical products. Statistical methodology has been greatly advanced in the literature. However, there are still some important issues with the methodology and application. In addition, there are many other challenges with these designs, including efficiency of these designs in the entire development program, trial conduct and logistics, the infrastructure of an adaptive trial, the regulatory evaluation of trial results and trial conduct, etc. Up till now, regulatory experience in these designs is very limited. We share some of the challenges. (© 2006 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Systemic inflammatory response syndrome
Authors: Davies M G , Hagen P-O
Published: June 2006

Background

Localized inflammation is a physiological protective response which is generally tightly controlled by the body at the site of injury. Loss of this local control or an overly activated response results in an exaggerated systemic response which is clinically identified as systemic inflammatory response syndrome (SIRS). Compensatory mechanisms are initiated in concert with SIRS and outcome (resolution, multiple organ dysfunction syndrome or death) is dependent on the balance of SIRS and such compensatory mechanisms. No directed therapies have been successful to date in influencing outcome.

Method

This review examines the current spectrum and pathophysiology of SIRS.

Results and conclusion

Further clinical and basic scientific research is required to develop the global picture of SIRS, its associated family of syndromes and their natural histories.
Delusion in general and forensic psychiatry—historical and contemporary aspects
Authors: Hoff Paul
Published: June 2006

Delusion has always been a central topic for psychiatric research with regard to etiology and pathogenesis and to diagnosis, treatment, and forensic relevance. Throughout the history of psychiatry as a scientific discipline, there has been dissent on the issue of whether chronic delusion is a nosological entity of its own or just a specific type of another mental disorder, e.g. schizophrenia, mania, or personality disorder, and there already is a considerable literature on this. This article seeks to elucidate the central lines of thought that have governed the scientific debate on delusions and delusion‐associated phenomena since the early 19th century. Special attention is given to the practical relevance of these theoretical considerations for forensic questions and psychiatric research. Due to the complex features of delusions, research in this area may well become paradigmatic for many other complicated psycho(patho)logical phenomena, e.g. consciousness, hallucinations and psychotic depression. Copyright © 2006 John Wiley & Sons, Ltd.
Psychological processes and paranoia: implications for forensic behavioural science
Authors: Bentall Richard P. , Taylor Jayne L.
Published: June 2006

Paranoid delusions have recently become the focus of empirical research. In this article, we review studies of the psychological mechanisms that might be involved in paranoid thinking and discuss their implications for forensic behaviour science. Paranoia has not been consistently associated with any specific neuropsychological abnormality. However, evidence supports three broad types of mechanism that might be involved in delusional thinking in general and paranoia in particular: anomalous perceptual experiences, abnormal reasoning, and motivational factors. There is some evidence that paranoia may be associated with hearing loss, and good evidence that paranoid patients attend excessively to threatening information. Although general reasoning ability seems to be unaffected, there is strong evidence that a jumping‐ to‐conclusions style of reasoning about data is implicated in delusions in general, but less consistent evidence specifically linking paranoia to impaired theory of mind. Finally, there appears to be a strong association between paranoia and negative self‐esteem, and some evidence that attempts to protect self‐esteem by attributing negative events to external causes are implicated. Some of these processes have recently been implicated in violent behaviour, and they therefore have the potential to explain the apparent association between paranoid delusions and offending. Copyright © 2006 John Wiley & Sons, Ltd.