Developmental Associations between Cognition and Adaptive Behavior in Intellectual and Developmental Disability.

Background: Intellectual and developmental disabilities (IDDs) are associated with both cognitive challenges and difficulties in conceptual, social, and practical areas of living (DSM-5). Individuals with IDD often present with an intellectual disability in addition to a developmental disability such as autism or Down syndrome. Those with IDD may present with deficits in intellectual functioning as well as adaptive functioning that interfere with independence and living skills. The present study sought to examine associations of longitudinal developmental change in domains of cognition (NIH Toolbox Cognition Battery, NIHTB-CB) and adaptive behavior domains (Vineland Adaptive Behavior Scales-3; VABS-3) including Socialization, Communication, and Daily Living Skills (DLS) over a two-year period. Methods: Eligible participants for this multisite longitudinal study included those who were between 6 and 26 years at Visit 1, and who had a diagnosis of, or suspected intellectual disability (ID), including borderline ID. Three groups were recruited, including those with fragile X syndrome, Down syndrome, and other/idiopathic intellectual disability. In order to examine the association of developmental change between cognitive and adaptive behavior domains, bivariate latent change score (BLCS) models were fit to compare change in the three cognitive domains measured by the NIHTB-CB (Fluid, Crystallized, Composite) and the three adaptive behavior domains measured by the VABS-3 (Communication, DLS, and Socialization). Results: Over a two-year period, change in cognition (both Crystalized and Composite) was significantly and positively associated with change in daily living skills. Also, baseline cognition level predicted growth in adaptive behavior, however baseline adaptive behavior did not predict growth in cognition in any model. Conclusions: The present study demonstrated that developmental improvements in cognition and adaptive behavior are associated in children and young adults with IDD, indicating the potential for cross-domain effects of intervention. Notably, improvements in Daily Living Skills on the VABS-3 emerged as a primary area of adaptive behavior that positively related to improvements in cognition. This work provides evidence for the clinical, "real life" meaningfulness of the NIHTB-CB in IDD, and important empirical support for the NIHTB-CB as a fit-for-purpose performance-based outcome measure for this population.

Accelerometry reveals limits to use of an energy-saving anthropogenic food source by a threatened species: A case of Carnaby's cockatoos (Zanda latirostris) and canola.

The use of anthropogenic resources is becoming increasingly common as species adapt to human-induced environmental changes, but their use can expose species to new risks. Understanding how animals exploit these resources is important for guiding conservation management, particularly where species are threatened. The introduction of canola cropping to breeding areas of endangered Carnaby's cockatoo (Zanda latirostris) has been attributed to an increase in the birds' reproductive success; however, the seed may be protein-limiting for nestling growth and its use by cockatoos has been implicated in the emergence of a new disease. We used high-resolution accelerometer-capable GPS tags to track eight birds. Accelerometer data were used to calculate overall dynamic body acceleration (ODBA), a proxy for energy expenditure, and to identify and quantify canola and native vegetation foraging behaviours. We used linear mixed models to determine which factors affected patterns of resource use and to determine whether, and to what extent, canola use was associated with reduced energetic and movement costs. We then compared the energetic content of canola seed and native food sources to inform patterns of behaviour and habitat use revealed by our tracking data. Use of canola was associated with reduced movement costs and energy expenditure. However, there was an apparent reluctance to increase foraging on canola above a threshold of time, even when conditions reduced time available to utilise native food sources. While anthropogenic resources may appear to improve population trends in some cases, careful investigations of patterns of resource use are necessary to guide appropriate conservation management efforts. For Carnaby's cockatoos, conservation efforts should focus on retention, protection and expansion of native food sources.

Deviation scores: An innovative approach to interpreting cognitive test results for individuals with intellectual disabilities.

BACKGROUND: Students with Intellectual Disability undergo frequent cognitive testing. Testing with this population is limited by insensitivity to relative strengths and weaknesses due to floor effects. AIM: The study explored the utility of deviation scores via four case studies as a supplement to educational decision-making. METHODS: Four students with Intellectual Disability completed cognitive testing. Deviation scores were calculated using age dependent raw z-score transformations to determine deviation from the standardization sample norms. RESULTS: The application of deviation scores highlighted true relative strengths and weaknesses for students with Intellectual Disability rather than documenting previously known deficits. The four cases studies illustrated where deviation scores could, or could not, add value above and beyond traditional scoring. DISCUSSION: Deviation scores can supplement placement and service decisions for students. Practical and psychometric considerations are reviewed. CONCLUSION: The findings highlight the usefulness of deviation scores in providing meaningful information to school- and clinic-based practitioners.

The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities.

BACKGROUND: Parenting children and young adults with intellectual disabilities, including individuals with fragile X syndrome and Down syndrome, is challenging, joyful, and complicated. Exploring how parents talk about their children, and the quality of the parent/child relationship can provide insight into the home environment and interactional patterns of the family. METHOD: Expressed emotion (EE) is a measurement of a family's emotional climate based on a parent or caregiver's report of warmth, emotional overinvolvement, hostility, and criticism. The purpose of this study was to describe EE for a sample of parents of individuals with intellectual disabilities and to determine any differences in EE amongst individuals within subgroups. Based on previous research about fragile X syndrome and family systems, we hypothesized that there would be significant differences between the disability groups (higher EE in families with children/young adults with fragile X syndrome). RESULTS: Results showed relatively high proportions of EE across groups of individuals with intellectual disabilities, however, there were no significant differences between the subgroups. Null findings suggest that differences in EE may not relate directly to a child's specific genetic condition. Rather, increased EE in caregiver populations may simply reflect well-documented stressors related to stigma, caregiver burden, and limited community supports. Critical statements were infrequent, however, over half of the participants reported dissatisfaction with their situation, and many were categorized as having emotional overinvolvement, as measured by frequent statements of intense worry and self-sacrifice. CONCLUSION: Findings point to potential utility in family-level interventions focused on providing structured caregiver therapy to manage excessive worry and grief related to a diagnosis of intellectual disability, and respite care to encourage caregiver independence and pursuit of personal care.

Sensitivity of the NIH Toolbox to Detect Cognitive Change in Individuals With Intellectual and Developmental Disability.

BACKGROUND AND OBJECTIVE: Individuals with intellectual disability (ID) experience protracted cognitive development compared with typical youth. Sensitive measurement of cognitive change in this population is a critical need for clinical trials and other intervention studies, but well-validated outcome measures are scarce. This study's aim was to evaluate the sensitivity of the NIH Toolbox Cognition Battery (NIHTB-CB) to detect developmental changes in groups with ID-fragile X syndrome (FXS), Down syndrome (DS), and other ID (OID)-and to provide further support for its use as an outcome measure for treatment trials. METHODS: We administered the NIHTB-CB and a reference standard cross-validation measure (Stanford-Binet Intelligence Scales, Fifth Edition [SB5]) to 256 individuals with FXS, DS, and OID (ages 6-27 years). After 2 years of development, we retested 197 individuals. Group developmental changes in each cognitive domain of the NIHTB-CB and SB5 were assessed using latent change score models, and 2-year growth was evaluated at 3 age points (10, 16, and 22 years). RESULTS: Overall, effect sizes of growth measured by the NIHTB-CB tests were comparable with or exceeded those of the SB5. The NIHTB-CB showed significant gains in almost all domains in OID at younger ages (10 years), with continued gains at 16 years and stability in early adulthood (22 years). The FXS group showed delayed gains in attention and inhibitory control compared with OID. The DS group had delayed gains in receptive vocabulary compared with OID. Unlike the other groups, DS had significant growth in early adulthood in 2 domains (working memory and attention/inhibitory control). Notably, each group's pattern of NIHTB-CB growth across development corresponded to their respective pattern of SB5 growth. DISCUSSION: The NIHTB-CB is sensitive to developmental changes in individuals with ID. Comparison with levels and timing of growth on the cross-validation measure shows that the NIHTB-CB has potential to identify meaningful trajectories across cognitive domains and ID etiologies. Sensitivity to change within the context of treatment studies and delineation of clinically meaningful changes in NIHTB-CB scores, linked to daily functioning, must be established in future research to evaluate the battery more completely as a key outcome measure.

Adapting Medication for Type 2 Diabetes to a Low Carbohydrate Diet.

Healthcare professionals in the primary care setting need to be competent to safely adapt diabetes medications when patients with Type 2 Diabetes (T2D) alter their diet. Safe prescribing practice is supported through an understanding of the clinical evidence, basic science, and pharmacology of medications. This review article supports clinicians in the practical application of this knowledge to achieve safe practice. Traditional medical training and clinical practice for chronic disease has long revolved around the teaching of intensifying therapy and evidenced based prescribing, a crucial skill when chronic disease progresses. Now that we are witnessing remission of Type 2 Diabetes through nutritional interventions specifically low carbohydrate diets (LCD) we must apply the same effort and thought to de-prescribing as the underlying metabolic condition improves. There is minimal guidance in the literature on how to actively de-prescribe. The American Diabetes Association in their Standards of Medical Care in Diabetes-2021 acknowledges low carbohydrate nutritional therapy (LCD) as a viable option in the management of Type 2 Diabetes (T2D). Thus, the goal of our paper is to help close the gap between the clinical evidence, basic science, and pharmacology of T2D medications to the practical application and teamwork needed to facilitate safe medication reduction in the primary care setting when applied to a LCD. The LCD is an increasingly popular and effective option for managing T2D and can lead to an improvement in the condition, reduced medication burden, and contribute to significant weight loss. Safe initiation of a LCD in patients on medications requires significant monitoring and medication adjustments to decrease and eliminate the risk of hypoglycemia and hypotension. The health care team including clinicians in primary care, nursing, pharmacy and nutrition need to be competent in adjusting diabetes and antihypertensive medications to achieve safe and effective care. The most immediate and important adjustments are to insulin, sulfonylureas, SGLT2 inhibitors, blood pressure medications and diuretics. Interdisciplinary care teams can individualize therapy while following the guidance, which includes monitoring blood glucose and blood pressure closely, decreasing medications that can cause hypoglycaemia and hypotension, evaluating blood glucose and blood pressure data responses regularly, and open access communication with the team. The article is an international consensus document on de-prescribing that was put together by a multidisciplinary team of clinicians.

Evaluation of the use and attitudes of pregnant and postpartum women towards medicine utilisation during pregnancy in the United Arab Emirates: A national cross-sectional study.

INTRODUCTION: Pregnancy period is of high concern to every woman. Knowledge about medication use needs to be highlighted at such a critical stage. OBJECTIVE: This study aimed to assess pregnant and postpartum women's use and attitude regarding the utilisation of medications during pregnancy in the United Arab Emirates (UAE). METHODS: A self-administrated survey was distributed among 500 pregnant and postpartum women randomly selected from the general population of five different cities within the UAE: Abu Dhabi, Dubai, Sharjah, AL Fujairah and Ajman over a period of 3 months. All analyses were two-sided, and a P-value of ≤.05 was taken as the cut-off for statistical significance. RESULTS: Overall, 434 participants took part in the survey. Forty-one percent of respondents reported that they use drugs during pregnancy, and the most frequently used medications during pregnancy were multivitamins, analgesics and folic acid. Moreover, 77.9% of female participants acquired their knowledge from their gynaecologists. Only 21.7% of respondents reported that the pharmacist provided enough information during dispensing. Most ladies had an uplifting mentality towards medicines, but they believed pregnant ladies should be more wary with respect to medication use during pregnancy. A significant association was found between participants' nationality and occupation, and attitudes about medications (P < .001), where women with Arab nationality and those with health-related careers agreed that they have a higher threshold for using medicines during pregnancy. CONCLUSION: During pregnancy, ladies were more moderate and doubter towards the drug, healthcare providers should know about such mentalities while encouraging pregnant ladies to take prescription.

Challenges associated with mental health management: Barriers and consequences.

INTRODUCTION: Mental illness has become a global public health issue and according to WHO report in 2015, United Arab Emirates (UAE) recorded the highest level of depression among all countries at Eastern Mediterranean Region. Many people frequently suffer from mental health diseases but tend not to obtain help. Treatment delay can become life-threatening. OBJECTIVES: This study aimed to identify the barriers to seeking professional help for mental illness and the consequences of untreated mental health disorders. The study also aimed to examine outcomes in patients when help was provided by health care providers. METHODS: A self-administrated survey was distributed among 377 people randomly selected from general population of three different cities at United Arab Emirates (UAE): Abu Dhabi, Dubai and Sharjah. Their perception of the barriers, consequences and outcomes was analyzed to achieve the objectives of the study. RESULTS: Overall, 341 participants completed the survey. Wrong thought regarding mental disorders (60.1%) and being ashamed (58.9%) were identified to be the most common and significant barriers (P < 0.001) that prevent people from obtaining healthcare providers' assistance. The majority of responders reported building confidence (78.9%) and improvement in relationships (73.0%) as outcomes for taking professional help in mental illness. Moreover, many individuals believed that untreated mental illness could lead to problems with family and friends (69.2%) as well as to suicidal thoughts (56.3%). CONCLUSION: This research gives some insights regarding the challenges associated with mental diseases management in the UAE. Majority of responders had a negative perception of mental health service due to a lack of awareness regarding treatment effectiveness for mental disorders.

Validation of the NIH Toolbox Cognitive Battery in intellectual disability.

OBJECTIVE: To advance the science of cognitive outcome measurement for individuals with intellectual disability (ID), we established administration guidelines and evaluated the psychometric properties of the NIH-Toolbox Cognitive Battery (NIHTB-CB) for use in clinical research. METHODS: We assessed feasibility, test-retest reliability, and convergent validity of the NIHTB-CB (measuring executive function, processing speed, memory, and language) by assessing 242 individuals with fragile X syndrome (FXS), Down syndrome (DS), and other ID, ages 6 through 25 years, with retesting completed after 1 month. To facilitate accessibility and measurement accuracy, we developed accommodations and standard assessment guidelines, documented in an e-manual. Finally, we assessed the sensitivity of the battery to expected syndrome-specific cognitive phenotypes. RESULTS: Above a mental age of 5.0 years, all tests had excellent feasibility. More varied feasibility across tests was seen between mental ages of 3 and 4 years. Reliability and convergent validity ranged from moderate to strong. Each test and the Crystallized and Fluid Composite scores correlated moderately to strongly with IQ, and the Crystallized Composite had modest correlations with adaptive behavior. The NIHTB-CB showed known-groups validity by detecting expected executive function deficits in FXS and a receptive language deficit in DS. CONCLUSION: The NIHTB-CB is a reliable and valid test battery for children and young adults with ID with a mental age of ≈5 years and above. Adaptations for very low-functioning or younger children with ID are needed for some subtests to expand the developmental range of the battery. Studies examining sensitivity to developmental and treatment changes are now warranted.

An Evaluation of US Food and Drug Administration's Program to Register HIV Drugs for Use in Resource-Constrained Settings.

Importance: The US Food and Drug Administration (FDA) program to review antiretroviral drugs for use in low-resource settings via the US President's Emergency Plan for AIDS Relief (PEPFAR) now supports treatment of more than 14 million patients with HIV. However, an in-depth evaluation of the program has not been undertaken. Objective: To conduct a quantitative analysis of the FDA-reviewed antiretroviral drug applications in order to assess the contributions of PEPFAR and to identify areas for improvement. Design, Setting, and Participants: A cross-sectional study was conducted of all PEPFAR applications submitted to the FDA from December 1, 2004, to May 31, 2018. The analyses were conducted between October 2018 and February 2019. Main Outcomes and Measures: Numbers and types of applications reviewed, how long it took for applications to obtain approval or tentative approval (time to registration), how often the FDA issued a complete response letter (CRL) identifying deficiencies precluding application approval or tentative approval and their reasons, and the association between CRLs and time to registration. Results: Overall, 260 PEPFAR applications for 327 antiretroviral therapies were reviewed by FDA, of which 216 applications (83%) for 272 drugs were authorized for use. Of the 216 authorized applications, 184 applications for 231 drugs remain in active status and, thus, are available for use. Twenty-six percent (56 of 216) of the applications were for pediatric-specific formulations or strengths; the remainder were for adults. For all 216 applications, the median (interquartile range) time to registration was 10.0 (7.0-17.5) months. Thirty-seven percent (95 of 260) of the applications received 1 or more CRLs, resulting in a total of 172 CRLs; most applications received 1 CRL, whereas some were issued up to 6 CRLs. Among all CRLs, 264 deficiency reasons were identified; the most common deficiencies were associated with manufacturing processes (155 [44%]), followed by product labeling (62 [23%]), and failing facility inspections (54 [20%]). Complete response letters were associated with an increased time to registration. Applications without CRLs had a median (interquartile range) time to registration of 9.0 (5.5-12.0) months, whereas those with at least 1 CRL took a median (interquartile range) of 22.0 (14.0-38.0) months (P < .001). Conclusions and Relevance: The FDA's PEPFAR program has made many antiretroviral drugs available for global use. However, FDA and the pharmaceutical companies could take steps to improve the quality of applications submitted to prevent avoidable deficiencies in manufacturing processes and labeling. Further efforts to develop better, easier to use pediatric-specific therapies are needed.

Toilet Training in Fragile X Syndrome.

OBJECTIVE: To characterize bladder and bowel toileting skill acquisition in children with fragile X syndrome and to identify associated demographic, behavioral, and clinical factors. METHODS: Using baseline data from the Fragile X Online Registry With Accessible Research Database (FORWARD), bivariate analyses and logistic regression models were used to identify differences between subjects who were and were not bowel and/or bladder trained by the age of 10 years. Cox proportional hazard models were used to assess the rate of completion of toilet training (TT) as a function of sex and autism spectrum disorder (ASD) diagnosis. RESULTS: In bivariate analyses, male sex, lower language level, inability to write one's name, more impaired intellectual level, ASD, and more severe behavioral deficits all predicted lack of bladder training (n = 313, p < 0.001) and bowel training (n = 300, p = 0.0004-0.0001) by the age of 10 years. In logistic regression models, lower level of language acquisition (p < 0.001) and higher Aberrant Behavior Checklist Irritability scores (p < 0.04) were associated with lower odds of bladder training by the age of 10 years. Lower level of language acquisition (p < 0.001) and ASD (p < 0.025) were associated with lower odds of bowel training by the age of 10 years. For both bladder and bowel training, Cox proportional hazard models indicated that delayed training was associated with male sex, lower levels of language acquisition, and ASD for both bladder training (n = 486; p < 0.001) and bowel training (n = 472; p < 0.001). CONCLUSION: These findings emphasize the importance of both slower language development and ASD diagnosis in predicting bowel and bladder training delays and can be used to develop and evaluate targeted approaches to TT based on sex, ASD diagnosis, and other clinical features identified in this study.

Reading in Children With Fragile X Syndrome: Phonological Awareness and Feasibility of Intervention.

Individuals with fragile X syndrome (FXS) present with significant deficits in reading skills, but scant research exists to understand the characteristics of the reading delays or best practices for reading instruction with this population. Study 1 examined the relationship between phonological awareness and reading skills in individuals with FXS. Study 2 evaluated the feasibility of a web-based reading intervention, which incorporated phonological awareness and phonics instruction but was originally developed for mainstream students, for children with FXS. Results suggest that phonological awareness and reading skills are correlated in this population, and that instruction targeting phonological awareness and phonics should not be ruled out for individuals with FXS. Further studies are needed to examine their potential effects.

The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions.

BACKGROUND: Recent advances in understanding molecular and synaptic mechanisms of intellectual disabilities (ID) in fragile X syndrome (FXS) and Down syndrome (DS) through animal models have led to targeted controlled trials with pharmacological agents designed to normalize these underlying mechanisms and improve clinical outcomes. However, several human clinical trials have failed to demonstrate efficacy of these targeted treatments to improve surrogate behavioral endpoints. Because the ultimate index of disease modification in these disorders is amelioration of ID, the validation of cognitive measures for tracking treatment response is essential. Here, we present preliminary research to validate the National Institutes of Health Toolbox Cognitive Battery (NIH-TCB) for ID. METHODS: We completed three pilot studies of patients with FXS (total n = 63; mean age 19.3 ± 8.3 years, mean mental age 5.3 ± 1.6 years), DS (n = 47; mean age 16.1 ± 6.2, mean mental age 5.4 ± 2.0), and idiopathic ID (IID; n = 16; mean age 16.1 ± 5.0, mean mental age 6.6 ± 2.3) measuring processing speed, executive function, episodic memory, word/letter reading, receptive vocabulary, and working memory using the web-based NIH-TB-CB, addressing feasibility, test-retest reliability, construct validity, ecological validity, and syndrome differences and profiles. RESULTS: Feasibility was good to excellent (≥80 % of participants with valid scores) for above mental age 4 years for all tests except list sorting (working memory). Test-retest stability was good to excellent, and convergent validity was similar to or better than results obtained from typically developing children in the normal sample for executive function and language measures. Examination of ecological validity revealed moderate to very strong correlations between the NIH-TCB composite and adaptive behavior and full-scale IQ measures. Syndrome/group comparisons demonstrated significant deficits for the FXS and DS groups relative to IID on attention and inhibitory control, a significant reading weakness for FXS, and a receptive vocabulary weakness for DS. CONCLUSIONS: The NIH-TCB has potential for assessing important dimensions of cognition in persons with ID, and several tests may be useful for tracking response to intervention. However, more extensive psychometric studies, evaluation of the NIH-TCB's sensitivity to change, both developmentally and in the context of treatment, and perhaps establishing links to brain function in these populations, are required to determine the true utility of the battery as a set of outcome measures.

Enhanced medication management services in the community: A win-win proposal from an economic, clinical and humanistic perspective.

BACKGROUND: Pharmacists are now receiving reimbursement by the Ontario government to do medication reviews for patients on 3 or more medications. However, they are often too busy in the community setting to thoroughly review medications with patients. Having a designated pharmacist to provide medication reviews could increase the number of reviews performed. METHODS: Step 1 involved developing a business plan to determine the number of medication reviews that needed to be done to pay a pharmacist a full-time salary. Step 2 involved establishing the core elements of medication therapy management that included medication review, a medication-related action plan, documentation and follow-up. In step 3, eligible patients were called and invited to attend an appointment to review their medications with the pharmacist. Upon completion of the medication reviews, a random group of patients were requested to complete a satisfaction survey after the medication review. RESULTS: Three hundred thirty-six patients received billable medication reviews from April 4 to July 27, 2012. Twenty-seven additional visits were performed as follow-up visits. Eighty pharmaceutical opinions met the eligibility criteria for billing. Fifteen patients received counselling for smoking cessation. Medication reviews were completed for 19 patients from 8 other pharmacies. Extra revenue was generated through the sales of replacements of expired products. An average of 2.08 drug-related problems per patients was identified. One hundred percent of the patients were very satisfied with the service. CONCLUSION: A full-time pharmacist position providing enhanced medication management services generated enough income to pay for a full-time pharmacist's salary. The benefits to the patients were an increase in identification and resolution of drug-related problems, as well as an opportunity to receive disease state education and experience an improvement in disease states. Patients were extremely satisfied with the medication review process and the service provided to them. Can Pharm J 2013;146:162-168.

Preterm infants have deficient monocyte and lymphocyte cytokine responses to group B streptococcus.

Group B streptococcus (GBS) is an important cause of early- and late-onset sepsis in the newborn. Preterm infants have markedly increased susceptibility and worse outcomes, but their immunological responses to GBS are poorly defined. We compared mononuclear cell and whole-blood cytokine responses to heat-killed GBS (HKGBS) of preterm infants (gestational age [GA], 26 to 33 weeks), term infants, and healthy adults. We investigated the kinetics and cell source of induced cytokines and quantified HKGBS phagocytosis. HKGBS-induced tumor necrosis factor (TNF) and interleukin 6 (IL-6) secretion was significantly impaired in preterm infants compared to that in term infants and adults. These cytokines were predominantly monocytic in origin, and production was intrinsically linked to HKGBS phagocytosis. Very preterm infants (GA, <30 weeks) had fewer cytokine-producing monocytes, but nonopsonic phagocytosis ability was comparable to that for term infants and adults. Exogenous complement supplementation increased phagocytosis in all groups, as well as the proportion of preterm monocytes producing IL-6, but for very preterm infants, responses were still deficient. Similar defective preterm monocyte responses were observed in fresh whole cord blood stimulated with live GBS. Lymphocyte-associated cytokines were significantly deficient for both preterm and term infants compared to levels for adults. These findings indicate that a subset of preterm monocytes do not respond to GBS, a defect compounded by generalized weaker lymphocyte responses in newborns. Together these deficient responses may increase the susceptibility of preterm infants to GBS infection.

Evaluating the impact of sustainable comprehensive primary health care on rural health.

OBJECTIVE: To develop a conceptual framework for monitoring the relationship between health services and health outcomes in rural Australia. DESIGN AND SETTING: Development of an evaluation framework for a rural comprehensive primary health service in Victoria. RESULTS: Evidence regarding essential components for successful primary health care, and objective health service and health status measures were combined to develop a conceptual health service evaluation framework. Application of the framework is illustrated using a case study of a rural primary health service in Victoria. CONCLUSIONS: Inadequate health services limit access to health care, delay use at times of need and result in poor health outcomes. Currently, there is a lack of evidence from rigorous health service evaluations to indicate which rural health services work well, where and why that could inform rural health policies and funding. Although the nature of health service models will vary across communities in order to meet their differing geographic circumstances, there is considerable scope for the translation and generalisation of evidence gained from health service models that are shown to be sustainable, responsive and able to deliver local quality health care. This framework can guide future health service evaluation research and thereby provide a better understanding of a health service's impact on the health of the community and its residents.

Clinical report: a male with Down syndrome, fragile X syndrome, and autism.

A case of a 14-year-old boy with both fragile X syndrome and Down syndrome is described. This is the third reported case of a patient with fragile X syndrome plus Down syndrome and the first reported case in a male. Facial features are generally consistent with Down syndrome; however, a prominent forehead and jaw and maccroorchidism were consistent with fragile X syndrome. Joint laxity is also present, which is consistent with both disorders. Cognitive impairment is more significant than in his siblings with fragile X syndrome, and he meets criteria for autistic disorder. Ongoing behavioral dysregulation has been significant, leading to disruption of home and school environments despite many attempted psychopharmacologic and behavioral strategies and a supportive family. Identification and treatment of underlying medical problems (esophagitis) led to improvements in sleep and behavior. We emphasize discussion of challenges in his behavioral management and present a collaborative approach to behavioral management.