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To fill the gap in knowledge about associations of health-related quality of life (HRQoL) with comorbid diabetes mellitus (DM), hypertension (HTN), and/or mild cognitive impairment (MCI) in the elderly, we explored associations of comorbid DM, HTN, and/or MCI with HRQoL. Data for this study were from a population-based cross-sectional survey of elderly Taiwanese (≥ 65 years old). Participants (N = 4,634; 47.9% male) were categorized into eight chronic-illness groups: DM only (n = 224); HTN only (n = 1226); DM and HTN (n = 365); MCI only (n = 497); DM and MCI (n = 58); HTN and MCI (n = 303); DM, HTN, and MCI (n = 101); and none (healthy; n = 1860). Associations were examined between the eight chronic-illness groups and HRQoL (measured by EQ-5D scores) using binary logistic regression analyses and generalized linear models adjusted for covariates. Index scores were calculated from EQ-5D scores using Taiwan’s general population-preference weights. Compared to the healthy group, after adjusting covariates, MCI alone or with other comorbidities was significantly, negatively associated with HRQoL. Among all chronic-illness groups, comorbid DM, HTN, and MCI exhibited the lowest HRQoL. After adjusting covariates, between-group odds ratios for index scores were significant when comparing comorbid DM and MCI to DM only, comparing comorbid HTN and MCI to HTN only and comorbid DM, comparing HTN and MCI to comorbid DM and HTN, suggesting that MCI additively affects HRQoL. HRQoL of older Taiwanese adults was negatively associated with having MCI. Thus, clinicians managing older persons with chronic illnesses should assess their cognitive function to identify high-risk groups needing HRQoL assistance.

BackgroundExecutive dysfunction is one of the main cognitive theories of autism spectrum disorder (ASD). Despite evidence of deficits in executive functions in individuals with ASD, little is known about executive dysfunctions as candidate cognitive endophenotypes for ASD. In this study, we investigated executive functions in youths with ASD, their unaffected siblings and typically developing controls (TDC).MethodsWe recruited 240 youths with a clinical diagnosis of ASD (aged 6–18 years), 147 unaffected siblings of ASD youths, and 240 TDC youths. TDC youths were recruited based on the age and sex distribution of the ASD youths. Participants were assessed using the verbal Digit Span test and four executive function tasks from the Cambridge Neuropsychological Test Automated Battery, including Intra-dimensional/Extra-dimensional Shift (I/ED), Spatial Span (SSP), Spatial Working Memory (SWM), and Stocking of Cambridge (SoC).ResultsASD youths, relative to TDC, performed significantly worse in executive function tasks assessing verbal working memory (forward and backward digit span), set-shifting (I/ED), visuospatial working memory (SSP, SWM), and planning/problem solving (SoC). Furthermore, unaffected siblings, relative to TDC, performed worse in forward and backward digit recalls and made more errors in SWM. These results were independent of the effects of age, sex, IQ, and symptoms of attention-deficit/hyperactivity disorder.ConclusionsOur findings support impaired executive functions in youths with ASD. However, unaffected siblings were mostly unimpaired except in the areas of verbal and spatial working memory, which may be potential cognitive endophenotypes for ASD.

Prenatal and perinatal factors may increase the risk of autism spectrum disorder. However, little is known about whether unaffected siblings of probands with autism spectrum disorder also share the phenomenon and whether the prenatal/perinatal factors are related to the clinical severity of autistic symptoms. We compared the frequency of prenatal and perinatal factors among 323 probands with autism spectrum disorder (mean age ± standard deviation, 10.7 ± 3.5 years; males, 91.0%), 257 unaffected siblings (11.7 ± 4.5; 42.8%), and 1504 typically developing controls (8.9 ± 1.6 years; 53.1%); and investigated their effects on the severity of autistic symptoms. We found that probands with autism spectrum disorder and their unaffected siblings had more prenatal/perinatal events than typically developing controls with higher numbers of prenatal/perinatal factors in probands than in unaffected siblings. The prenatal/perinatal events were associated with greater stereotyped behaviors, social-emotional problems, socio-communication deficits, and overall severity. We also found that six prenatal/perinatal factors (i.e. preeclampsia, polyhydramnios, oligoamnios, placenta previa, umbilical cord knot, and gestational diabetes) were associated with the severity of autistic symptoms, particularly stereotyped behaviors and socio-communication deficits. Our findings suggest that prenatal and perinatal factors may potentially moderate the clinical expression of autism spectrum disorder. The underlying mechanism warrants further research.

This study investigated the associations of cognitive status with specific/overall health-related quality of life (HRQoL) in older stroke survivors in Taiwan.A subsample of 592 older stroke survivors in a nationwide population-based survey of cognitive-dysfunction prevalencewas analyzed. HRQoL was assessed using the EuroQol five-dimension questionnaire (EQ-5D).Stroke survivors with dementia were 5.60 times more likely to have mobility problems, 12.20 times to have self-care problems, 16.61 times to have problems in usual activities, 4.31 times to have pain/discomfort, and 3.28 times to have anxiety/depression than stroke survivors with normal cognitive function. Stroke survivors with mild cognitive dysfunction (MCD) were 2.57 times more likely to have mobility problems, 3.17 times to have self-care problems, 3.31 times to have problems in usual activities, 2.11 times to have pain/discomfort, and 2.35 times to have anxiety/depression than those with normal cognitive function. Both dementia (b = -15.13, p.001) and MCD (b = -6.24, p.001) significantly contributed to lower EQ-5D VAS; both dementia (b = -.15, p.001) and MCD (b = -.10, p.001) significantly contributed to lower EQ-5D index.Dementia and MCD strongly predicted worse overall and specific HRQoL dimensions, especially self-care and usual activities for older stroke survivors.

Background/Purpose Central nervous system (CNS) patterning genes are recognized as candidate genes for autism spectrum disorders (ASDs) based on neuroimaging and neuropathological evidence. Several genes that regulate CNS development are shown to be associated with ASD. Our previous family-based association study also revealed that a specific haplotype of WNT2 (wingless-type MMTV integration site family member 2) gene was overtransmitted to probands with ASD. Whether the CNS patterning genes moderate the clinical phenotype of ASD is unclear. This study investigated the genetic associations of WNT2 , engrailed 2 ( EN2 ), and forkhead box P2 ( FOXP2 ) with the clinical symptom severity. Methods The sample included 391 patients (males, 88.3%; mean age±standard deviation, 9.5±4.4 years) diagnosed with ASDs. Tag single nucleotide polymorphisms (SNPs) of EN2 , WNT2 , and FOXP2 were genotyped. The single-locus and multilocus markers were tested for association. Results We found that multilocus markers of WNT2 were associated with stereotyped behaviors whereas the markers of FOXP2 tended to be associated with social deficits. Moreover, an SNP of WNT2 showed a trend to be associated with less inattentive symptoms. Conclusions Our findings that WNT2 and FOXP2 may moderate the clinical phenotypes of ASD provide evidence to support the possible universal effect of WNT2 and FOXP2 on neurodevelopmental symptom dimensions. Such findings warrant further validation in other independent samples. Trial registration: Clinical trial registration identifier: NCT00494754

Rare genomic copy number variations (CNVs) (frequency

Background: To examine the relationships between cognitive dysfunction status and quality of life. Methods: Secondary analysis of a nationwide population-based survey (≥65 years) in Taiwan. The 5-dimension EuroQoL questionnaire (EQ-5D) was completed by 10 013 participants. Results: Participants with mild cognitive impairment (MCI; odds ratio = 4.88), very mild dementia (VMD; 7.96), or dementia (32.85) were more likely than those with normal cognition to report self-care problems. Participants with MCI (3.86), VMD (9.26), or dementia (31.61) were more likely to have usual-activity problems, and those with MCI (3.04), VMD (3.82), or dementia (9.23) were more likely to have mobility problems. Participants with MCI (2.10 and 2.14), VMD (2.77 and 2.18), or dementia (3.04 and 3.02) were more likely to report pain/discomfort and anxiety/depression. Conclusion: Dementia was negatively associated with EQ-5D, especially self-care, usual activities, and mobility. Mild cognitive impairment or VMD was also negatively associated, with VMD more negatively associated. Developing interventions for patients with specific cognitive dysfunctions is critical.

Background Increasing evidence shows common motor deficits associated with autism spectrum disorder (ASD) that can relate to impaired planning and control processes of the sensorimotor system. Catching is a fundamental motor skill that requires coordination between vision, posture, and arm movements. Although postural control and ball catching have been shown to be impaired in children with ASD, previous studies have not investigated how these components are integrated. Objective The objective of this study was to investigate the sensorimotor control of arm movements and postural adjustments during ball catching in children with and without ASD. Design This study employed a cross-sectional design. Methods Fifteen children with ASD (mean [SD] age = 8.8 [1.2] years; 12 boys) and 15 age- and sex-matched typically developing children participated in this study. Children were asked to catch a ball rolling down a ramp in 6 test conditions in which visual inputs and ramp direction were manipulated to provide different sensory conditions and postural demands. Results Compared with their typically developing peers, children with ASD had increased difficulties catching balls, especially those from lateral directions. They less often used visual information to plan for catching motion, demonstrated fewer and delayed anticipatory postural adjustments, and exhibited increased corrective control. Limitations The sample excluded children with intellectual disability and attention deficit and hyperactivity disorders that might reduce the generalizability to the whole ASD population. Conclusions Our results suggest that motor difficulties present in children with ASD can result from compromised sensorimotor integration in planning and control of movements.

We compared the maternal reports on mothering and family processes between 160 youth with autism spectrum disorder (ASD) and 160 age and gender-matched typically developing (TD) youth stratified by personal characteristics from Taiwan. The ASD groups consisted of 51 'typical autism' (TA), 52 'high-functioning autism' (HFA), and 57 'Asperger syndrome (AS).' Maternal reports showed that youth with ASD obtained less affection and more protection from the mother, and had less active mother-child interactions and more behavioral problems at home. Their mothers perceived less family support when compared to mothers of TD youth. Moreover, both TA and AS groups had more maternal protection and less maternal perceived family support, whereas HFA and co-occurring ADHD were only associated with more behavioral problems at home. The maternal and family process may vary across different ASD subgroups.

Background The presence of attention-deficit/hyperactive disorder (ADHD) symptoms and impaired attention performance are commonly noted in individuals with autism spectrum disorder (ASD). However, little is known about attention performance in their unaffected siblings. This study aimed to investigate the ADHD-related traits and attention performance in unaffected siblings of probands with autism and Asperger syndrome (AS), as well as the clinical correlates of ADHD-related traits. Methods We assessed the intention, hyperactivity-impulsivity, and oppositional symptoms, and attention profiles of 199 probands with a diagnosis of ASD (122 autism, 77 AS), their unaffected siblings, and 196 typically developing controls (TD) by their parents’ reports on the ADHD-related symptoms and the Connors' Continuous Performance Test (CCPT), respectively. Results Compared to TD, unaffected siblings of ASD probands were more hyperactive/impulsive and oppositional, particularly unaffected siblings of AS probands. In CCPT, unaffected siblings of AS have intermediate levels of performance between probands with AS and TD on focused attention and sustained attention but were not statistically different from AS probands or TD in these attention profiles. In contrast, unaffected siblings of autism probands have significantly better CCPT performance when compared to autism probands but not to TD. In addition, stereotyped behaviors predicted ADHD-related traits in both sibling groups, but distinctive patterns of other correlates for ADHD-related traits were found between the two sibling groups. Conclusions This work suggested that unaffected siblings of AS, but not autism, have more hyperactive/impulsive traits and a trend of pervasive attention deficits assessed by CCPT which might serve as potential endophenotypes for genetic studies in AS. Trial registration ClinicalTrials.gov, NCT01582256 Electronic supplementary material The online version of this article (doi:10.1186/s13229-017-0153-9) contains supplementary material, which is available to authorized users.

No feasible screening instrument is available for early detection of children with autism in Taiwan. The existing instruments may not be appropriate for use in Taiwan due to different health care systems and child-rearing cultures. The purpose of this study was to develop and test a screening questionnaire for generic autism. The initial 18-item screening questionnaire was developed by a child psychiatrist using face-to-face interviews with 10 families of children with autism and then tested on a sample of families of 18 children with autism and of 59 typically developing children. Of these 18 items, 15 had fair or better item discrimination (kappa >0.20) and were selected for the revised screening questionnaire. In the revised questionnaire, cutoff scores of 5 and 6 offered 100% sensitivity and 96.5% specificity, with the area under the receiver operating characteristic curve of 0.983. The revised screening instrument has high sensitivity and specificity, making it potentially useful for screening Taiwanese children at risk for autism. This instrument should be further tested in a population-based study.

Objective PDZ-binding kinase/T-LAK cell-originated protein kinase (PBK/TOPK) regulates components of the cell cycle, including cell growth, immune responses, DNA damage repair, apoptosis, and inflammation. PBK/TOPK may also accelerate tumorigenesis in colorectal cancer. Methods We investigated the impact of PBK/TOPK on the clinical outcome of colorectal cancer patients to further identify its role in colorectal cancer. PBK/TOPK immunoreactivity was analyzed by immunohistochemistry in 162 cancer specimens from primary colorectal cancer patients. Results The mean follow-up time after surgery was 5.4 years (medium: 3.9 years; range 0.01 to 13.1 years). The prognostic value of PBK/TOPK on overall survival was determined by Kaplan-Meier analysis and Cox proportional hazard models. PBK/TOPK was expressed in both the cytoplasm and nucleus. High PBK/TOPK expression in tumor cells was significantly associated with advanced T value. The 5-year survival rate was greater for patients with high total PBK/TOPK expression than with low PBK/TOPK expression (58.3% vs 34.4%, P = 0.005). Multivariate analyses showed that low-scoring cytoplasmic PBK/TOPK, negative nuclear PBK/TOPK, low total PBK/TOPK, and advanced tumor stage were correlated with poor overall patient survival. Conclusions We suggest that PBK/TOPK expression, detected by IHC staining, could be used as an independent prognostic marker for colorectal cancer patients.

Parental explanatory models about autism influence the type of therapy a child receives, the child's well-being, and the parents' own psychological adaptation. This qualitative study explored explanatory models used by parents of children with autism. In-depth interviews were conducted with 13 parents of children with autism from a medical center in Taiwan. Despite high educational background, most of these parents attributed their child's autism to both biomedical and supernatural etiologies without apparent conflicts. These parents chose a wide variety of treatment strategies, including biomedical and alternative treatments, which often created time/energy pressures and financial burden, and were influenced by parents' cause attribution. Parents' illness explanations influence their treatment selections and need to be understood and accepted by health care providers.

Aim: To investigate the effects of age, gender, prenatal/perinatal factors, and maternal psychological distress on childhood emotional/behavioral problems, and the gender difference in the patterns of comorbid emotional/behavioral problems. Methods: The sample included 1391 children aged 4–9 in Taipei using a multi-stage sampling method. Their mothers completed questionnaires including demographics, prenatal/perinatal variables, the Child Behavior Checklist, and the Chinese Health Questionnaire. The linear and non-linear mixed model was used for data analysis. Results: Boys scored higher on externalizing problems, and girls scored higher on internalizing problems. Gender also modified the comorbid patterns of emotional/behavioral problems. Aggressive behaviors decreased, but attention and thought problems increased with age. Prenatal/perinatal exposure to alcohol and coffee, vaginal bleeding, and gestational diabetes, low birthweight, and postnatal incubation and resuscitation, and maternal psychological distress predicted the risk for several childhood emotional/behavioral problems. Conclusion: Prenatal/perinatal and maternal care, and gender-specific measures are important for prevention of childhood emotional/behavioral problems.

When a child is ill, it is commonplace for his/her mother to become the major caretaker. However, little information could be found on the process by which mothers of children with intellectual disability care for their children in the context of a specific disorder. To explore this phenomenon in mothers of children with autism, this study used a grounded theory approach to develop a substantive theory for explaining the parenting and behavior/symptom management processes for such mothers in Taiwan. Data were collected by in-depth, tape-recorded interviews with 12 mothers of a child with autism, ages 3-7 years. Analysis of interview transcripts revealed that the process used by these mothers to deal with the complex needs of their children was "integrating nurturer-trainer roles." This process had four components: searching effective treatments, developing training and nurturing competencies, negotiating roles, and adjusting expectations. Different types of "integrating nurturer-trainer" processes were found: trying it all, going along, insisting on training, and facilitating the child's strengths. The "strength-facilitating" type of mothers seemed to be better at integrating the nurturer-trainer roles and had better role preparedness, less role strain, and positive emotional reactions. These results can sensitize health care providers to the conditions of these mothers, thus helping them to develop appropriate interventions to facilitate the process of integrating the nurturer-trainer roles.

Title. Adaptive functioning and depressive symptoms in school-aged children Aim. This paper is a report of a secondary data analysis to the hypothesis that a child’s resourcefulness moderates the relationships between the primary female caregiver’s variables (depressive symptoms and learned resourcefulness) and the child’s outcomes (depressive symptoms and adaptive functioning). Background. School-aged children between 10 and 12 years of age are at an important stage of development characterized by dramatic biological and psychosocial challenges. Maladaptive functioning and depressive symptoms increase markedly in this stage. To prevent long-term effects of depressive symptoms and impaired adaptive functioning, identifying moderators of the relationship between stress and these mental health indicators is critical. Methods. A secondary analysis was conducted in 2004 using the data obtained in 2000 from a community-based sample of 122 school students aged 10–12 years and their primary female caregivers in four suburban public schools in Northeastern Ohio. Instruments included the Self-Control Schedule, Beck Depression Inventory, the Children’s version of the Self-Control Schedule, the Children’s Community Living Skills Scale, and the Children’s Depression Inventory. Findings. Children’s resourcefulness significantly moderated the relationship between their female caregiver’s depressive symptoms and their own adaptive functioning (P

To assess the effects of an interdisciplinary intervention on the trajectories of depressive symptoms among older patients during 2 years after hip fracture surgery.A secondary analysis of data from a randomized controlled trial that contrasted usual care with an interdisciplinary program. Whereas usual care (n = 77) entailed only in-hospital rehabilitation and occasional discharge planning, the interdisciplinary program (n = 76) consisted of geriatric consultation, in-hospital rehabilitation, discharge planning and rehabilitation at home for 3 months after hospitalization. Depressive symptoms were assessed by using the Chinese version of the Geriatric Depression Scale short-form, before discharge, and 1, 3, 6, 12, 18 and 24 months after discharge. Covariates included demographic attributes, pre-fracture performance of activities of daily living (Chinese Barthel Index) and cognitive functioning (Mini-Mental State Examination).Changes in depressive symptoms can be characterized by three trajectory groups, including a non-depressive group (n = 58, 37.8%), a marginally depressive group (n = 46, 30.7%) and a persistently depressive group (n = 49, 31.5%). Relative to those who received usual care, participants in the interdisciplinary program had a significantly lower risk of being in the persistently depressive group (odds ratio 0.23, P 0.05). In addition, women and those physically and cognitively more impaired were more likely to be in the marginally and persistently depressive groups.Our interdisciplinary intervention reduced older persons' likelihood of having persistent depressive symptoms after hip fracture surgery. Geriatr Gerontol Int 2016; 16: 1145-1152.

BackgroundAn uneven neurocognitive profile is a hallmark of autism spectrum disorder (ASD). Studies focusing on the visual memory performance in ASD have shown controversial results. We investigated visual memory and sustained attention in youths with ASD and typically developing (TD) youths.MethodWe recruited 143 pairs of youths with ASD (males 93.7%; mean age 13.1, s.d. 3.5 years) and age- and sex-matched TD youths. The ASD group consisted of 67 youths with autistic disorder (autism) and 76 with Asperger's disorder (AS) based on the DSM-IV criteria. They were assessed using the Cambridge Neuropsychological Test Automated Battery involving the visual memory [spatial recognition memory (SRM), delayed matching to sample (DMS), paired associates learning (PAL)] and sustained attention (rapid visual information processing; RVP).ResultsYouths with ASD performed significantly worse than TD youths on most of the tasks; the significance disappeared in the superior intelligence quotient (IQ) subgroup. The response latency on the tasks did not differ between the ASD and TD groups. Age had significant main effects on SRM, DMS, RVP and part of PAL tasks and had an interaction with diagnosis in DMS and RVP performance. There was no significant difference between autism and AS on visual tasks.ConclusionsOur findings implied that youths with ASD had a wide range of visual memory and sustained attention impairment that was moderated by age and IQ, which supports temporal and frontal lobe dysfunction in ASD. The lack of difference between autism and AS implies that visual memory and sustained attention cannot distinguish these two ASD subtypes, which supports DSM-5 ASD criteria.

BACKGROUND:Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic components. Several recent genome-wide association (GWA) studies in Caucasian samples have reported a number of gene regions and loci correlated with the risk of ASD--albeit with very little consensus across studies. METHODS:A two-stage GWA study was employed to identify common genetic variants for ASD in the Taiwanese Han population. The discovery stage included 315 patients with ASD and 1,115 healthy controls, using the Affymetrix SNP array 6.0 platform for genotyping. Several gene regions were then selected for fine-mapping and top markers were examined in extended samples. Single marker, haplotype, gene-based, and pathway analyses were conducted for associations. RESULTS:Seven SNPs had p-values ranging from 3.4~9.9*10-6, but none reached the genome-wide significant level. Five of them were mapped to three known genes (OR2M4, STYK1, and MNT) with significant empirical gene-based p-values in OR2M4 (p = 3.4*10(-5)) and MNT (p = 0.0008). Results of the fine-mapping study showed single-marker associations in the GLIS1 (rs12082358 and rs12080993) and NAALADL2 (rs3914502 and rs2222447) genes, and gene-based associations for the OR2M3-OR2T5 (olfactory receptor genes, p = 0.02), and GLIPR1/KRR1 gene regions (p = 0.015). Pathway analyses revealed important pathways for ASD, such as olfactory and G protein-coupled receptors signaling pathways. CONCLUSIONS:We reported Taiwanese Han specific susceptibility genes and variants for ASD. However, further replication in other Asian populations is warranted to validate our findings. Investigation in the biological functions of our reported genetic variants might also allow for better understanding on the underlying pathogenesis of autism.

Autism spectrum disorders (ASD) are childhood-onset neurodevelopmental disorders characterized by verbal communication impairments, social reciprocity deficits, and the presence of restricted interests and stereotyped behaviors. Genetic factors contribute to the incidence of ASD evidently. However, the genetic spectrum of ASD is highly heterogeneous. Chromosomal abnormalities contribute significantly to the genetic deficits of syndromic and non-syndromic ASD. In this study, we conducted karyotyping analysis in a sample of 500 patients (447 males, 53 females) with ASD from Taiwan, the largest cohort in Asia, to the best of our knowledge. We found three patients having sex chromosome aneuploidy, including two cases of 47, XXY and one case of 47, XYY. In addition, we detected a novel reciprocal chromosomal translocation between long arms of chromosomes 4 and 14, designated t(4;14)(q31.3;q24.1), in a patient with Asperger's disorder. This translocation was inherited from his unaffected father, suggesting it might not be pathogenic or it needs further hits to become pathogenic. In line with other studies, our study revealed that subjects with sex chromosomal aneuploidy are liable to neurodevelopmental disorders, including ASD, and conventional karyotyping analysis is still a useful tool in detecting chromosomal translocation in patients with ASD, given that array-based comparative genomic hybridization technology can provide better resolution in detecting copy number variations of genomic DNA.

Few studies describe the trajectories of cognitive function for hip-fracture patients following hospital discharge and the treatment effects of interdisciplinary intervention on cognitive outcomes. The purpose of this study was to explore the 2-year postoperative trajectory for cognitive function of older hip-fracture patients and cognitive effects of an interdisciplinary intervention.Of 160 subjects randomly assigned to groups, 29 (35.8%) in the control group (n = 81) and 30 (38.0%) in the intervention group (n = 79) were cognitively impaired at admission. The intervention group received geriatric consultation, continuous rehabilitation, and discharge planning. Subjects' cognitive function was measured using the mini mental state examination Taiwan version at admission, 6, 12, 18, and 24 months after discharge and analyzed using hierarchical generalized linear models.Patients who received the intervention program had 75% less likelihood of being cognitively impaired 6 months following discharge than those who received routine care (odds ratio = 0.25, p0.001). The difference between the control and intervention groups was small at admission, peaked at 18 months, and decreased from 18 to 24 months following discharge.Our interdisciplinary intervention improved the long-term postoperative cognitive functioning of older persons with hip fracture in Taiwan.

This article aims to evaluate the long-term effects of an interdisciplinary intervention program on cognitively impaired older persons after hip fracture in Taiwan.Of 160 subjects randomly assigned to control (n = 81) and intervention (n = 79) groups, 24 (29.6%) and 27 (34.2%) were cognitively impaired in the control and intervention groups, respectively, and outcomes were followed for 2 years after discharge.Among cognitively impaired subjects, more in the intervention group recovered their previous walking ability (odds ratio [OR] =3.49; confidence interval [CI] = 1.64 to 7.42), activities of daily life performance (β = 18.59; p = 0.0002), and more were readmitted to the hospital (OR = 4.44, CI = 1.53 to 12.89) than those in the control group during the first 2 years following discharge. Among subjects without cognitive impairment, more in the intervention group recovered their previous walking ability (OR = 2.6; CI = 1.33 to 5.07), had fewer falls (OR = 0.47; CI = 0.25 to 0.86), and made fewer emergency room visits (OR = 0.33; CI = 0.11 to 0.97) during the first 2 years following discharge than those in the control group.Cognitively impaired individuals benefited from our interdisciplinary intervention by improving their walking ability and physical function during the first 2 years following discharge. Specific strategies on fall prevention following hip fracture need to be further developed for cognitively impaired individuals.

Autism is a complex neurodevelopmental disorder with high heritability. Despite different approaches worldwide to identify susceptibility loci or genes for autism spectrum disorders (ASDs), no consistent result has been reported. CNS patterning genes have been recognized as candidate genes for autism based on neuroimage and neuropathology evidence. This study investigated four candidate genes (WNT2, EN2, SHANK3, and FOXP2) by a tag SNP approach in a family-based association study. The trio samples include 1164 subjects from 393 families, including 393 probands (aged 9.1 ± 4.0 years; male, 88.6%) diagnosed with autistic disorder (n = 373) or Asperger's disorder (n = 20) according to the DSM-IV diagnostic criteria and confirmed by the Chinese ADI-R interview. Three tag SNPs of EN2 (7q36), 6 SNPs of WNT2 (7q31–33), 5 SNPs of SHANK3 (22q13.3), 3 SNPs of FOXP2 (7q31) were genotyped. TDT analysis was done to test the association of each tag SNP and haplotype. There was no association with autism for 17 tag SNPs of WNT2, EN2, SHANK3, and FOXP2 based on SNP analyses. Haplotype analyses did not reveal significant association except for the 6 tag SNPs of WNT2 gene showing a significant association on one haplotype composed of rs2896218 and rs6950765 (G–G) (p = 0.0095). Other haplotypes composed of rs2896218 and rs6950765 (G–G) were also significantly associated with autism. The present study indicates that SHANK3 may not be a critical gene for the etiology of ASDs in Han Chinese population. Inconsistent findings in EN2 and FOXP2 in the Han Chinese population need further clarification. A haplotype of WNT2 (rs2896218–rs6950765: G–G) is significantly associated with ASDs in our trios samples, this finding warrants further validation by different sample and confirmation by functional study.

Objective: The aim of the present study was to examine changes of attention-deficit–hyperactivity disorder (ADHD) symptoms and psychiatric comorbidities at adolescence, and mother-child agreement on reports of ADHD symptoms among children with ADHD as compared to unaffected controls. Methods: The participants included 93 patients (male, 82.8%) aged 11–16, who were clinically diagnosed with ADHD at the mean age of 7.3 ± 2.8 years, and 93 age-, sex-, and parental education-matched school controls. The participants and their mothers were frist interviewed separately for baseline psychopathology at childhood, followed by current psychopathology using the Chinese Kiddie Epidemiologic version of the Schedule for Affective Disorders and Schizophrenia. Results: At adolescence, 46 patients (49.5%) met full DSM-IV ADHD criteria, 31 (33.3%) had subthreshold ADHD, and 16 (17.2%) had recovered from ADHD. We found a significant progressive decline in the three ADHD core symptoms for the ADHD group: hyperactivity had the greatest effect size, followed by inattention, and then impulsivity. Children with ADHD tended to report less severe ADHD symptoms at childhood and adolescence than their mothers. They were more likely than the controls to have oppositional defiant disorder (odds ratio (OR)=18.0; 95% confidence interval (CI)=8.3–38.9), conduct disorder (OR=23.1, 95%CI =5.3–100.2), mood disorders (OR=3.8, 95%CI = 1.5–9.4), bipolar disorders (Fisher's exact p < 0.001), and sleep disorders (OR=3.1, 95%CI = 1.6–6.0) at adolescence. Conclusions: The present findings are similar to those of Western studies, regarding the patterns of comorbidity, stability of core symptoms, and mother–child differences on symptom reports.

Title. Older people with hip fracture: depression in the postoperative first year. Aim. This paper is a report of a study conducted to describe changes in risk of depressive symptoms and their predictors for older people with hip fracture during the first year following hospital discharge. Background. The prevalence of depression in older people with hip fracture has been reported as 9‐47%. However, the longitudinal changes in prevalence rate following hip fracture have not been well-studied, particularly in Asian countries. Methods. The study was conducted in Taiwan in 2001‐2003. A sample of 147 older people with hip fracture was assessed for depressive symptoms before discharge, and at 1, 3, 6 and 12 months after discharge using the Chinese version of the Geriatric Depression Scale. Longitudinal data were analysed by the generalized estimating equation approach. Findings. The majority of participants were at risk for depressive symptoms before discharge (n = 147, 57AE8%) and 35AE6% (n = 118) 12 months after discharge. These numbers decreased statistically significantly from before discharge to the 1st month after discharge (57AE8% vs. 42AE6%, P =0 AE008), and from the 1st to the 6th month (42AE6% vs. 31AE3%, P =0 AE03), and then remained stable until the 12th month after discharge. Lower emotional-social support predicted persistent depressive symptoms after discharge (P < 0AE01). Conclusion. Timely psychological interventions are suggested within the first 6 months after discharge, especially the first 3 months. Healthcare professionals need to pay attention to older patients with hip fracture who are female, with poorer prefracture functioning and particularly those with lower emotional-social support.

There has been increasing interest in the role emotional support plays on recovery and the perceptions of health. However, the vast majority of studies have been based on data from Western nations. Little is known about hip-fractured elders in Asian countries. This study has examined the influences of emotional support on functional recovery, and health-related quality of life (HRQoL) among elderly patients in Taiwan.Data were gathered from 126 hip fractured elders, in a teaching hospital in northern Taiwan. Eleven items from the Medical Outcome Study (MOS) Social Support Survey were administered, in order to measure emotional support at 1 month after discharge. The Chinese Barthel Index (CBI), Lawton and Brody's instrumental activities of daily living (IADL) scale, and MOS Short Form-36 Taiwan version were administered at the end of months 1, 3, and 6 after discharge.After controlling for covariates, greater levels of emotional support predicted a better recovery of the activities of daily living (ADL) (beta=0.23, P=0.04) and IADL (beta=0.03, P=0.03), and better HRQoL in seven of eight dimensions (P ranged from0.0001 to 0.04), except social function, emotional role , and physical role during the first 6 months after hospital discharge.Emotional support can have a significant impact on the recovery of self- care ability, and different aspects of HRQoL during the first 6 months after discharge for hip fractured elders in Taiwan. Clinical implications were made, on the basis of these findings.

Background Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder with complex genetic underpinning in its etiology. Copy number variations (CNVs) as one of the genetic factors associated with ASD have been addressed in recent genome-wide association studies (GWAS). However, the significance of CNV has not been well investigated in non-Caucasian ASD population. Methods To identify the pathogenic CNVs responsible for ASD in Han Chinese, we performed a segment-based GWAS of CNV in 335 ASD cases and 1093 healthy controls using Affymetrix single nucleotide polymorphism (SNP) array by focusing on case-specific CNVs. PARK2 was one of the important genes with several case-specific regions overlapped on it. The findings were validated in the initial screen sample set and replicated in another sample set by real-time quantitative PCR (qPCR). Results A total of six CNVs at 6q26 that spanned different exons of PARK2 were identified. The PARK2 expression level was down-regulated at exon-dependent manner in cases with either deletion or duplication. The result revealed that the gene function might be disrupted by exonic deletion and duplication. We also observed that the ASD case with exonic duplication demonstrated a more severe interference of PARK2 expression and the clinical feature than the ones with deletion at the exons 2–4 of the PARK2 gene. Conclusions Our finding provides evidence to support that CNVs affecting PARK2 function might contribute to genetic etiology of a proportion of cases with ASD. The intriguing results of this work warrant further study on characterizing the functional impact of various exonic CNVs on the PARK2 gene. Trial registration ClinicalTrials.gov NCT00494754 Electronic supplementary material The online version of this article (doi:10.1186/s13229-016-0087-7) contains supplementary material, which is available to authorized users.