农村艾滋病高发地区社会疾病经济负担分析

目的 了解艾滋病高发省区农村的艾滋病社会疾病经济负担情况，为农村地区艾滋病防治提供基础数据资料。方法 通过现场调查、死亡登记等资料，测算艾滋病社会直接经济负担、计算伤残（失能）调整生命年（DALYs）以反映艾滋病社会疾病负担和计算艾滋病社会间接经济负担，进而计算艾滋病社会经济负担。结果 被调查省区当年DALYs合计43602．69健康人年，平均每例DALYs20．72健康人年，总DALYs达518745．92健康人年；当年社会间接经济负担为41291．75万元／年。艾滋病总的社会间接经济负担为596248．85万元。该省区当年艾滋病社会疾病经济负担合计71236．92万元／年，艾滋病社会疾病经济负担总计641166．61万元。结论 艾滋病的例均疾病社会经济负担较重；其社会疾病经济负担对宏观经济尚不造成较大影响，但对高发的县、乡、村影响较大；艾滋病疾病负担构成以间接经济负担为主。     

Inaugural Christianson Syndrome Association conference: families meeting for the first time

Christianson syndrome (CS) is an X-linked neurodevelopmental disorder caused by deleterious mutations in SLC9A6. Affected families organized the inaugural Christianson Syndrome Association conference to advance CS knowledge and develop questions that may be prioritized in future research.     

Positive aspects of the coping of mothers of adolescent children with developmental disability in the Bedouin community in Israel

This research examines the positive aspects of coping experienced by 270 mothers of adolescent children with and without a developmental disability in the Bedouin community. The mothers completed the Sociodemographic Data Questionnaire, the Grandparents Functional Support Assessment, the Gratitude Questionnaire, and the Posttraumatic Growth Inventory. Mothers of adolescent children with developmental disability reported higher levels of social support, gratitude, and personal growth than did mothers of adolescent children without developmental disability. Additionally, mothers demonstrated a higher level of gratitude toward their spouse's parents. Positive correlation was also found between gratitude and personal growth and between gratitude and support from the husband's parents. The findings highlight the important need to develop awareness and culturally appropriate intervention programs based on these positive aspects, to enhance these mothers’ coping abilities.     

On Prediction of Hearing Disability

The present investigation was performed in order to evaluate the pure-tone frequency and/or averages of frequencies best correlated with speech intelligibility measured by the discrimination score (DS) in quiet and in background noise, and, in addition, indicate a valid low fence of the DS when correlated to a self-assessment procedure. The material comprises 158 male subjects with a median age of 60 years, range 52-72 years, drawn from an ongoing longitudinal epidemiological investigation. By self-assessment 36% indicated hearing disability in noisy backgrounds, while 64% had no hearing problems. The pure-tone frequency that correlated best with the speech intelligibility in quiet was the 2-kHz pure-tone frequency. In background noise the best correlation was found with the 3–kHz pure-tone frequency. In the group of subjects with complaints of hearing problems, the median discrimination score in background noise was 84% (IQR 72-92), while in the group of subjects with no complaints the median discrimination score in noise was 92% (IQR 88-96). Based on the results it is concluded that DS in background noise is a valuable measure in the assessment of hearing disability, but no low fence value can be indicated on the basis of the present results.

Le présent projet de recherche fut réalisé en vue d'évaluer la fréquence de son pur et/ou la moyenne des fréquences qui reflètent le mieux l'intelligibilité de la parole mesurée par le score de discrimination dans le silence et dans le bruit, et qui en outre indiquent une limite inférieure valable du score de discrimination lorsqu'on établit une corrélation entre ces fréquences par un processus d'autoévaluation. L'échantillon est extrait d'une investigation épidémiologique longitudinale en cours de réalisation portant sur 158 sujets de sexe masculin, aˇges de 52 à 72 ans (moyenne = 60 ans). Il ressort de l'autoévaluation que 36% des sujets ont indiqué une gěne auditive en ambiance bruyante, alors que 64% des sujets n'ont pas fait état de problèmes auditifs. La fréquence tonale qui donnait le meilleur accord avec l'intelligibilité de la parole dans le silence fut la fréquence 2 kHz. Dans le bruit, la meilleure corrélation a été obtenue avec la fréquence 3 kHz. Dans le groupe de sujets qui font état de problèmes auditifs, le score moyen de discrimination dans le bruit se situe à 84% (IQR 72 à 92), alors que dans le groupe de sujets sans problèmes, le měme score est de 92% (IQR 88 à 96). Sur la base des résultats acquis, on conclut que le score de discrimination dans le bruit donne une mesure valable dans l'étude d'un trouble auditif, mais il n'est pas possible d'indiquer une limite inférieure à partir de ces résultats.     

Gene networks associated with non-syndromic intellectual disability

Non-syndromic intellectual disability (NS-ID) is a genetically heterogeneous disorder, with more than 200 candidate genes to date. Despite the increasing number of novel mutations detected, a relatively low number of recurrently mutated genes have been identified, highlighting the complex genetic architecture of the disorder. A systematic search of PubMed and Medline identified 245 genes harbouring non-synonymous variants, insertions or deletions, which were identified as candidate NS-ID genes from case reports or from linkage or pedigree analyses. From this list, 33 genes are common to syndromic intellectual disability (S-ID) and 58 genes are common to certain neurological and neuropsychiatric disorders that often include intellectual disability as a clinical feature. We examined the evolutionary constraint and brain expression of these gene sets, and we performed gene network and protein–protein interaction analyses using GeneGO MetaCore^TM and DAPPLE, respectively. The 245?NS-ID candidate genes were over-represented in axon guidance, synaptogenesis, cell adhesion and neurotransmission pathways, all of which are key neurodevelopmental processes for the establishment of mature neuronal circuitry in the brain. These 245 genes exhibit significantly elevated expression in human brain and are evolutionarily constrained, consistent with expectations for a brain disorder such as NS-ID that is associated with reduced fecundity. In addition, we report enrichment of dopaminergic and glutamatergic pathways for those candidate NS-ID genes that are common to S-ID and/or neurological and neuropsychiatric disorders that exhibit intellectual disability. Collectively, this study provides an overview and analysis of gene networks associated with NS-ID and suggests modulation of neurotransmission, particularly dopaminergic and glutamatergic systems as key contributors to synaptic dysfunction in NS-ID.     

Effects of computer-based graphic organizers to solve one-step word problems for middle school students with mild intellectual disability: A preliminary study

The purpose of this study was to examine the effects of computer-based graphic organizers, using Kidspiration 3© software, to solve one-step word problems. Participants included three students with mild intellectual disability enrolled in a functional academic skills curriculum in a self-contained classroom. A multiple probe single-subject research design (Horner & Baer, 1978) was used to evaluate the effectiveness of computer-based graphic organizers to solving mathematical one-step word problems. During the baseline phase, the students completed a teacher-generated worksheet that consisted of nine functional word problems in a traditional format using a pencil, paper, and a calculator. In the intervention and maintenance phases, the students were instructed to complete the word problems using a computer-based graphic organizer. Results indicated that all three of the students improved in their ability to solve the one-step word problems using computer-based graphic organizers compared to traditional instructional practices. Limitations of the study and recommendations for future research directions are discussed.     

Disability in Older Adults 1: Prevalence,Causes, and Consequences

The effects of disability on an aging population's health and welfare are an important issue in gerontological research. The rapid growth of the elderly population and increases in longevity have led to an ongoing debate about whether longer lives can be matched by longer active lives that are free from disability. After a detailed review of current disability literature, the authors discuss the impact of disability in the elderly, defining disability and reviewing three classes of disability—physical, mental, and social. Both subjective and objective disability measures are described, and disability trends and prevalence rates are reviewed and compared cross culturally, by gender, by age, and over time. The path from chronic disease to disability is described and the consequences of living with disability are discussed in terms of family burdens and the increased need for medical care.     

Bridging the Disability Divide? Young Children's and Teenager's with Disability Internet Experiences in Greece

Given the overall paucity of research on youngsters with disability, and the ways they participate in online culture, this paper wishes to unpack the norms and divisions that become enacted or undone through online technologies and the impact these may have on the everyday practices of children and teenagers with disability in Greece. Based on our interviews with 20 youngsters with physical, and/or cognitive difficulties, or deafness, and premised on a socially constructed notion of disability and childhood, we support the view that social and digital exclusion are inextricably linked and that online technologies are differentially used in order to compensate for the physical, communicative, identity and socializing shortcomings of different kinds of impairment.