1. Amaral DG, Anderson GM, Bailey A, Bernier R, Bishop S, Blatt G, Canal-Bedia R, Charman T, Dawson G, de Vries PJ, Dicicco-Bloom E, Dissanayake C, Kamio Y, Kana R, Khan NZ, Knoll A, Kooy F, Lainhart J, Levitt P, Loveland K, Minshew N, Mueller RA, Murphy D, Mundy P, Palencia S, Pinto-Martin J, Rattazzi A, Rogers S, Stone WL, Webb SJ, Whitehouse A. {{Gaps in current autism research: The thoughts of the Autism Research Editorial Board and Associate Editors}}. {Autism Res}. 2019.
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2. Bektas G, Tekin U, Yildiz EP, Aydinli N, Caliskan M, Ozmen M. {{Autism spectrum disorder and attention-deficit/hyperactivity disorder-related symptoms in benign childhood epilepsy with centrotemporal spikes: A prospective case-control study}}. {Epilepsy Behav}. 2019; 95: 61-4.
BACKGROUND: Benign childhood epilepsy with centrotemporal spikes (BECTS), one of the most common idiopathic epilepsy syndromes in children, has been associated with neuropsychological problems. PURPOSE: The objective of this study was to investigate the frequency of symptoms related to comorbid neurodevelopmental disorders, the autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) in children with typical BECTS, and to identify corresponding risk factors. METHODS: Children and adolescents with typical BECTS aged 6-16years were included in the study period from January 1, 2017, to December 31, 2017. Children with atypical presentations of BECTS, other neurological disorders, and preexisting neuropsychiatric disorders were excluded. The ASD and ADHD were assessed by the Social Communication Questionnaire (SCQ) and the Turgay Diagnostic and Statistical Manual of Mental Disorders – 4th Edition – Disruptive Behavior Disorders Rating Scale (T-DSM-IV-S), respectively. Patients’ scores were compared with those of healthy subjects. Correlation analyses were performed to evaluate the association between the age at seizure onset, the total number of seizures and the SCQ and T-DSM-IV-S scores. RESULTS: Fifty-eight children with BECTS and 60 healthy children participated in the study. The total SCQ score, the SCQ reciprocal social interaction score, and the SCQ communication score significantly differed between children with BECTS and the control group (p=0.001, p<0.001, p=0.001, respectively). The total ADHD score was significantly different between patients and controls (p<0.001). A significant difference was observed between patients and controls in terms of the T-DSM-IV-S hyperactivity-impulsivity score and the T-DSM-IV-S inattention score (p=0.012, p<0.001, respectively). The age at seizure onset was significantly correlated with the total SCQ score (p=0.03). The Spearman's correlation coefficient was 0.352 for the total SCQ score, indicating a positive association between the age at seizure onset and the total SCQ score. CONCLUSION: Children with typical BECTS may have an increased risk of suffering from symptoms of ASD and ADHD. Children with late onset of seizures may be more likely to develop neuropsychological disturbances regarding ASD and ADHD. Lien vers le texte intégral (Open Access ou abonnement)
3. Bertollo JR, Yerys BE. {{More Than IQ: Executive Function Explains Adaptive Behavior Above and Beyond Nonverbal IQ in Youth With Autism and Lower IQ}}. {Am J Intellect Dev Disabil}. 2019; 124(3): 191-205.
Adaptive behavior is a critical metric for measuring outcomes in those with autism spectrum disorder (ASD). Executive function skills predict adaptive behavior in youth with ASD with average or higher IQ; however, no study has examined this relationship in ASD with lower IQ (IQ Lien vers le texte intégral (Open Access ou abonnement)
4. Casanova EL, Switala AE, Dandamudi S, Hickman AR, Vandenbrink J, Sharp JL, Feltus FA, Casanova MF. {{Autism risk genes are evolutionarily ancient and maintain a unique feature landscape that echoes their function}}. {Autism Res}. 2019.
Previous research on autism risk disorder (ASD), developmental regulatory (DevReg), and central nervous system (CNS) genes suggests they tend to be large in size, enriched in nested repeats, and mutation intolerant. The relevance of these genomic features is intriguing yet poorly understood. In this study, we investigated the feature landscape of these gene groups to discover structural themes useful in interpreting their function, developmental patterns, and evolutionary history. ASD, DevReg, CNS, housekeeping, and whole genome control (WGC) groups were compiled using various resources. Multiple gene features of interest were extracted from NCBI/UCSC Bioinformatics. Residual variation intolerance scores, Exome Aggregation Consortium pLI scores, and copy number variation data from Decipher were used to estimate variation intolerance. Gene age and protein-protein interactions (PPI) were estimated using Ensembl and EBI Intact databases, respectively. Compared to WGC: ASD, DevReg, and CNS genes are longer, produce larger proteins, maintain greater numbers/density of conserved noncoding elements and transposable elements, produce more transcript variants, and are comparatively variation intolerant. After controlling for gene size, mutation tolerance, and clinical association, ASD genes still retain many of these same features. In addition, we also found that ASD genes that are extremely mutation intolerant have larger PPI networks. These data support many of the recent findings within the field of autism genetics but also expand our understanding of the evolution of these broad gene groups, their potential regulatory complexity, and the extent to which they interact with the cellular network. Autism Res 2019, 00: 1-10. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism risk genes are more ancient compared to other genes in the genome. As such, they exhibit physical features related to their age, including long gene and protein size and regulatory sequences that help to control gene expression. They share many of these same features with other genes that are expressed in the brain and/or are associated with prenatal development.
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5. Casson I, Abells D, Boyd K, Bradley E, Gemmill M, Grier E, Griffiths J, Hennen B, Loh A, Lunsky Y, Sue K. {{Teaching family medicine residents about care of adults with intellectual and developmental disabilities}}. {Canadian family physician Medecin de famille canadien}. 2019; 65(Suppl 1): S35-s40.
PROBLEM ADDRESSED: Adults with intellectual and developmental disabilities (IDD), a group with complex health problems and inequities in access to health care, look to family physicians for primary care. OBJECTIVE OF PROGRAM: To enable residents to learn and demonstrate competencies that are unique to the care of adults with IDD with minimal extra time and resources required of the residency program. PROGRAM DESCRIPTION: In their regular family medicine teaching practices, residents undertake planned encounters with adults with IDD involving comprehensive health assessments with physical examinations. Tools to implement the Canadian guidelines for primary care of adults with IDD are available to support the residents in their encounters. Background information in the form of self-learning and small group learning resources, field notes with rubrics to assess residents’ development of competencies, and faculty development resources are also available. CONCLUSION: It is important to include such planned clinical experiences in family medicine residency curricula because people with IDD have special needs that are difficult to learn about in other settings. It is a benefit to residents to have patients and families actively contributing to teaching.
6. Casson I, Hung A, Grier E, Karim S. {{Health Check tool: For comprehensive health assessment of adults with intellectual and developmental disabilities}}. {Canadian family physician Medecin de famille canadien}. 2019; 65(Suppl 1): S33-s4.
7. Chen J, Liang C, Wei Z, Cui Z, Kong X, Dong CJ, Lai Y, Peng Z, Wan G. {{Atypical longitudinal development of speech-evoked auditory brainstem response in preschool children with autism spectrum disorders}}. {Autism Res}. 2019.
Language impairment is common in children with autism spectrum disorders (ASDs). Previous research has shown that this disability may be, in part, due to atypical auditory processing of speech stimuli. However, how speech sounds are processed in children with ASD remains largely unknown. The present study assessed the developmental pattern of auditory information processing at the level of the brainstem in preschool children with ASD using speech-evoked auditory brainstem response (speech-ABR). Children with ASD (N = 15) and of typical developing (TD) (N = 20), both of preschool age, were enrolled. The speech-ABRs recorded at two different time points (T1 and T2; 9.68 months apart on average) were virtually identical in the TD group. However, in the ASD group, the wave V latency of speech-ABR was significantly shortened and the amplitudes of wave A and C were significantly larger at T2, compared to those recorded at T1 (10.78 months apart on average). Compared to the TD group, the wave V and A latencies were prolonged at T1, whereas the wave E amplitude decreased and wave F latency prolonged at T2. There was a positive partial correlation between the language performance and the wave A amplitude in the ASD group. These results indicate that auditory processing at the subcortical level is well-developed in the TD preschool children, but is immature and abnormal in the children with ASD at the same ages. Thus, aberrant speech processing at the brainstem level may contribute significantly to the language impairment in children with ASD at preschool ages. Autism Res 2019, 00: 1-15. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Language impairment is common in children with autism spectrum disorders (ASDs). We investigated the developmental pattern of subcortical auditory processing by monitoring changes in the speech-evoked auditory brainstem response (speech-ABR) over a period of 10 months in preschool children. Our results show that subcortical auditory processing is impaired and immature in children with ASD compared with age-matched, typically developing children. The results suggest that speech-ABR may be used as an objective measure in evaluating the language performance of children with ASD. The results also suggest that aberrant speech processing at the level of the brainstem may contribute significantly to the language impairment in preschool children with ASD.
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8. Cyrus AC, Royer J, Carroll DD, Courtney-Long EA, McDermott S, Turk MA. {{Anti-Hypertensive Medication Use and Factors Related to Adherence Among Adults With Intellectual and Developmental Disabilities}}. {Am J Intellect Dev Disabil}. 2019; 124(3): 248-62.
Adults with intellectual and developmental disabilities (IDD) are known to experience significant health disparities; however, few studies have described anti-hypertensive medication adherence in this population. Using administrative data from South Carolina from 2000-2014, we evaluated the odds of adherence to anti-hypertensive medication among a cohort of adults with IDD and hypertension. Approximately half (49.5%) of the study cohort were adherent to anti-hypertensive medication. Those who lived in a supervised residence, had a Medicaid waiver, and had more frequent contact with a primary care provider were more likely to be adherent. Organizations that serve people with IDD have an opportunity to increase adherence by educating these individuals, their family members, and caregivers about the importance of adherence to anti-hypertensive medication.
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9. Durbin A, Balogh R, Lin E, Wilton AS, Selick A, Dobranowski KM, Lunsky Y. {{Repeat Emergency Department Visits for Individuals With Intellectual and Developmental Disabilities and Psychiatric Disorders}}. {Am J Intellect Dev Disabil}. 2019; 124(3): 206-19.
Although individuals with intellectual and developmental disabilities (IDD) and psychiatric concerns are more likely than others to visit hospital emergency departments (EDs), the frequency of their returns to the ED within a short time is unknown. In this population-based study we examined the likelihood of this group returning to the ED within 30 days of discharge and described these visits for individuals with IDD + psychiatric disorders (n = 3,275), and persons with IDD only (n = 1,944) compared to persons with psychiatric disorders only (n = 41,532). Individuals with IDD + psychiatric disorders, and individuals with IDD alone were more likely to make 30-day repeat ED visits. Improving hospital care and postdischarge community linkages may reduce 30-day returns to the ED among adults with IDD.
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10. Durbin J, Selick A, Casson I, Green L, Perry A, Chacra MA, Lunsky Y. {{Improving the quality of primary care for adults with intellectual and developmental disabilities: Value of the periodic health examination}}. {Canadian family physician Medecin de famille canadien}. 2019; 65(Suppl 1): S66-s72.
OBJECTIVE: To implement a Health Check protocol for patients with intellectual and developmental disabilities (IDD) and assess outcomes. DESIGN: Retrospective chart review and staff survey. SETTING: Two Ontario family health teams. PARTICIPANTS: Of 276 patients with IDD identified, 139 received the Health Check (Health Check group). A convenience sample (N = 147) of clinical staff participated in the survey. MAIN OUTCOME MEASURES: The protocol included patient identification, invitation, and modified health examination. Chart review assessed completion of 8 preventive maneuvers, and clinical staff were surveyed on their comfort, knowledge, and skills in care of patients with IDD. Logistic regression analyses were used to compare outcomes for the Health Check and non-Health Check groups, adjusted for practice site. RESULTS: Documentation of blood pressure, weight, body mass index, and influenza vaccination was significantly higher (P < .001) in the Health Check group, exceeding 70% of patients. Screening rates were higher for mammograms (63% vs 54%), fecal occult blood testing (39% vs 23%), and diabetes testing (80% vs 61%), but not significantly so, and they were similar to general population rates. Papanicolaou test rates were low for both groups (34% vs 32%). Staff comfort and skills were rated significantly higher (P < .05) for those who performed the Health Check. Still, fewer than half thought they had the necessary skills and resources to care for patients with IDD. CONCLUSION: Performing the Health Check was associated with improved preventive care and staff experience. Wider implementation and evaluation is needed, along with protocol adjustments to provide more support to staff for this work. Lien vers Pubmed
11. Ferguson BJ, Dovgan K, Takahashi N, Beversdorf DQ. {{The Relationship Among Gastrointestinal Symptoms, Problem Behaviors, and Internalizing Symptoms in Children and Adolescents With Autism Spectrum Disorder}}. {Frontiers in psychiatry}. 2019; 10: 194.
Background: Many individuals with autism spectrum disorder (ASD) have co-occurring gastrointestinal (GI) symptoms, but the etiology is poorly understood. These GI symptoms often coincide with problem behaviors and internalizing symptoms, which reduces the quality of life for these individuals. Methods: This study examined the relationships among GI problems, problem behaviors, and internalizing symptoms in a sample of 340 children and adolescents with ASD who are patients at the University of Missouri Thompson Center for Autism & Neurodevelopmental Disorders. Results: The majority of patients experienced constipation (65%), about half experienced stomachaches or stomach pain (47.9%), and others experienced nausea (23.2%) or diarrhea (29.7%). Young children with aggressive problem behaviors were 11.2% more likely to have co-occurring nausea; whereas, older children showed more complex relationships between internalizing symptoms and GI symptoms. Older children with greater anxiety symptoms were 11% more likely to experience constipation, but 9% less likely to experience stomachaches. Older children with greater withdrawn behavior were 10.9% more likely to experience stomachaches, but 8.7% less likely to experience constipation. Older children with greater somatic complaints were 11.4% more likely to experience nausea and 11.5% more likely to experience stomachaches. Conclusions: Results suggest that the presentation of externalizing problem behavior and internalizing symptoms associated with GI problems differs between young children and older children with ASD. Therefore, behavior may have different relationships with GI symptoms at different ages, which may have implications for the treatment of and clinical approach to GI disturbances in ASD.
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12. Gardner RM, Dalman C, Rai MD, Lee BK, Karlsson H. {{The Association of Paternal IQ With Autism Spectrum Disorders and its Comorbidities: A Population-Based Cohort Study}}. {J Am Acad Child Adolesc Psychiatry}. 2019.
OBJECTIVE: Original case descriptions of autism noted that parents of the affected children tended to be highly educated and intelligent, a characterization that has endured publicly. Recent genetic studies indicate that risk for autism spectrum disorders (ASD) is associated with high intelligence. We examined the association between paternal intelligence and ASD, considering co-occurring intellectual disability (ID) and attention-deficit hyper-activity disorder (ADHD). METHOD: We used a register-based cohort study design including 360151 individuals with fathers conscripted to the Swedish military, resident in Stockholm, Sweden, born 1984-2008, and followed until December 31, 2011 for diagnosis of ASD, ADHD, and/or ID. Risk of neurodevelopmental disorders relative to paternal IQ (rated on a nine-point scale) was assessed using a score of 5 (average intelligence) as the referent in models accounting for potentially non-linear relationships and clustering of siblings. RESULTS: We observed an association between high paternal IQ and offspring risk of ASD without ID/ADHD in models adjusted for individual and family characteristics [ORIQ=9 1.32 (95% CI 1.15-1.52)], an association that appeared to be driven largely by the fathers’ score on the technical comprehension portion of the test [ORTechnical IQ=9 1.53 (1.31-1.78)]. Conversely, low paternal IQ was associated with ASD+ID [ORIQ=11.78 (1.27-2.49)] and ASD+ADHD [ORIQ=11.40 (1.16-1.70)]; low paternal IQ was strongly associated with ID [ORIQ=1 4.46 (3.62-5.49)] and present also for ADHD [ORIQ=11.56 (1.42-1.72)] without co-occurring ASD or ID. CONCLUSION: The relationship between paternal IQ and offspring risk of ASD was non-monotonic and varied by the presence of co-occurring disorders, probably reflecting phenotypic diversity among affected individuals.
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13. Helverschou SB, Brunvold AR, Arnevik EA. {{Treating Patients With Co-occurring Autism Spectrum Disorder and Substance Use Disorder: A Clinical Explorative Study}}. {Substance abuse : research and treatment}. 2019; 13: 1178221819843291.
Background: Substance use disorders (SUDs) have been assumed to be rare in individuals with autism spectrum disorder (ASD). Recent research suggests that the rates of SUD among individuals with ASD may be higher than assumed although reliable data on the prevalence of SUD in ASD are lacking. Typical interventions for SUD may be particularly unsuitable for people with ASD but research on intervention and therapy are limited. Methods: This study addresses ways of improving services for individuals with ASD and SUD by enhancing the competence of professionals in ordinary SUD outpatient clinics. Three therapists were given monthly ASD education and group supervision. The participants were ordinary referred patients who wanted to master their problems with alcohol or drugs. Four patients, all men diagnosed with ASD and intelligence quotient (IQ) 70 completed the treatment. The participants were given cognitive behavioural therapy (CBT) modified for their ASD over a minimum of 10 sessions. The therapies lasted between 8 and 15 months. Standardised assessments were conducted pre- and post-treatment. Results: Post-treatment, 2 participants had ended their drug and alcohol abuse completely, 1 had reduced his abuse, and 1 still had a heavy abuse of alcohol. Physical well-being was the most prevalent reported positive aspect of drug or alcohol use, whereas the experience of being left out from social interaction was the most frequent negative aspects of intoxication. Conclusions: CBT may represent a promising treatment option for individuals with ASD and SUD. The results suggest that patients’ symptoms can be reduced by providing monthly ASD education and group supervision to therapists in ordinary SUD outpatient clinics. This group of patients need more sessions than other client groups, the therapy has to be adapted to ASD, ie, direct, individualised, and more extensive. Moreover, the patients need psychoeducation on ASD generally, social training, and support to organise several aspects of their lives and some patients need more support than can be provided in an outpatient clinic.
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14. Lane AM, Reed MB, Hawranik P. {{Aging Individuals With Down Syndrome and Dementia as Teachers: Learnings from Staffin a Developmental Disability Program in Long-Term Care}}. {Journal of gerontological nursing}. 2019; 45(5): 17-22.
Older adults with Down syndrome (DS) and dementia are an emerging sub-population. With much longer life spans than decades ago, issues have arisen as to where these aging adults will live and how nurses and other staff in facilities can provide effective care to these individuals. The current article presents a research study that examined the learnings of nurses and staff members working within a western Canadian program for older adults with DS and dementia. These learnings include: the importance of learning from each other; importance of collaboration; how individuals with developmental disabilities communicate; older adults with DS and dementia differ from older adults with dementia; and residents’ impact on staff. [Journal of Gerontological Nursing, 45(5), 17-22.].
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15. Li N, Yang J, Zhang J, Liang C, Wang Y, Chen B, Zhao C, Wang J, Zhang G, Zhao D, Liu Y, Zhang L, Yang J, Li G, Gai Z, Zhang L, Zhao G. {{Correlation of Gut Microbiome Between ASD Children and Mothers and Potential Biomarkers for Risk Assessment}}. {Genomics, proteomics & bioinformatics}. 2019.
Variation of maternal gut microbiota may increase the risk of autism spectrum disorders (ASDs) in offspring. Animal studies have indicated that maternal gut microbiota is related to neurodevelopmental abnormalities in mouse offspring, while it is unclear whether there is a correlation between gut microbiota of ASD children and their mothers. We examined the relationships between gut microbiome profiles of ASD children and those of their mothers, and evaluated the clinical discriminatory power of discovered bacterial biomarkers. Gut microbiome was profiled and evaluated by 16S ribosomal RNA gene sequencing in stool samples of 59 mother-child pairs of ASD children and 30 matched mother-child pairs of healthy children. Significant differences were observed in the gut microbiome composition between ASD and healthy children in our Chinese cohort. Several unique bacterial biomarkers, such as Alcaligenaceae and Acinetobacter, were identified. Mothers of ASD children had more Proteobacteria, Alphaproteobacteria, Moraxellaceae, and Acinetobacter than mothers of healthy children. There was a clear correlation between gut microbiome profiles of children and their mothers; however, children with ASD still had unique bacterial biomarkers, such as Alcaligenaceae, Enterobacteriaceae, and Clostridium. Candidate biomarkers discovered in this study had remarkable discriminatory power. The identified patterns of mother-child gut microbiome profiles may be important for assessing risks during the early stage and planning of personalized treatment and prevention of ASD via microbiota modulation.
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16. Lougheed DC. {{Approach to providing care for aging adults with intellectual and developmental disabilities}}. {Canadian family physician Medecin de famille canadien}. 2019; 65(Suppl 1): S14-s8.
OBJECTIVE: To provide an approach to caring for aging adults with intellectual and developmental disabilities (IDD) in the context of the onset of new or worsening chronic illnesses and the need for planning for the end of life. SOURCES OF INFORMATION: A MEDLINE search identified few review articles in the past 10 years. This review builds on relevant articles and the experiences of the author and colleagues working with aging adults with IDD and their families, physicians, and other caregivers. MAIN MESSAGE: To provide care to this patient group, physicians must understand the diverse cognitive abilities of adults with IDD; the risk factors for physical and mental illnesses; concerns related to diagnostic overshadowing; and the need for coordinating individual care plans for those with serious and terminal illnesses. CONCLUSION: Primary care physicians can provide and coordinate appropriate care for patients with IDD as they face the health challenges associated with aging and dying. Being aware of patients’ baseline cognitive abilities and decision-making skills, as well as changes in cognitive abilities associated with aging and complexity of illness, will help determine patients’ capacity to consent, identify appropriate treatment choices, and guide coordination of care. Further research and consensus statements are needed to guide best practices based on the Canadian experience and to allow continuing development of caring, professional, and competent providers to support aging adults with all levels of IDD.
17. Martin MI, Grier E, Bobbette N, Casson I, Durbin J, Gemmill M, Lunsky Y, Ouellette-Kuntz H. {{Implementation of Health Links coordinated care plans for adults with intellectual and developmental disabilities: Cross-sectoral pilot program}}. {Canadian family physician Medecin de famille canadien}. 2019; 65(Suppl 1): S41-s6.
PROBLEM ADDRESSED: Adults with intellectual and developmental disabilities (IDD) are a complex population that could benefit from improved care coordination across health and social sectors, as they experience poorer health and have higher rates of emergency department use and hospitalization due to ambulatory care-sensitive conditions. OBJECTIVE OF PROGRAM: To pilot a novel, enhanced model of care coordination for complex patients with IDD. PROGRAM DESCRIPTION: Health Links is a provincial care-coordination program for patients with complex health care needs. This pilot program adapted Health Links to include a guide and training specific to adults with IDD to ensure that these patients’ needs were met and high-quality, efficient care was provided. CONCLUSION: A tailored care-coordination approach for adults with IDD was able to identify complex patients in need and successfully bridge cross-sectoral care.
18. Pattini E, Carnevali L, Troisi A, Matrella G, Rollo D, Fornari M, Sgoifo A. {{Psychological characteristics and physiological reactivity to acute stress in mothers of children with Autism Spectrum Disorder}}. {Stress and health : journal of the International Society for the Investigation of Stress}. 2019.
Stress related to parenting a child with autism spectrum disorder can differently affect caregiver’s physiological reactivity to acute stress. Here, parental stress levels, psychological characteristics and coping strategies were assessed alongside measures of heart rate, heart rate variability, and cortisol during a psychosocial stress test in mothers of children with ASD (M-ASD, n=15) and mothers of typically developing children (n=15). M-ASD reported significantly higher levels of parental stress, anxiety, negative affectivity, social inhibition, and a larger preference for avoidance strategies. M-ASD showed larger heart rate and cortisol responses to the psychosocial stress test. A positive relationship was found between parental stress levels and the magnitude of the cortisol stress response in both groups. The present findings indicate exaggerated physiological reactivity to acute psychosocial stress in M-ASD, and prompt further research to explore the role of individual differences in mediating the effects of parental stress on physiological stress responses.
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19. Payakachat N, Long CR, McElfish PA, Narcisse MR, Felix HC, Bursac Z, Hudson TJ. {{Prevalence, Health and Resource Utilization, and Unmet Healthcare Needs of Native Hawaiian and Pacific Islander Children With Developmental Disabilities}}. {Am J Intellect Dev Disabil}. 2019; 124(3): 234-47.
Little is known about health limitations and service utilization among the Native Hawaiian and Pacific Islander (NHPI) children with developmental disabilities (DDs) due to limited data. Our study examined the prevalence of DDs, health limitations, services used, and the unmet needs of NHPI children aged 3 to 17 years using cross-sectional data from the 2014 NHPI National Health Interview Survey. Results showed that prevalence of DDs among NHPI children was lower than American children of other races. DDs were negatively associated with health and functioning of NHPI children. There is a need to promote understanding of DDs among NHPI families and to inform public policy makers to identify appropriate intervention services for NHPI children.
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20. Penzol MJ, Salazar de Pablo G, Llorente C, Moreno C, Hernandez P, Dorado ML, Parellada M. {{Functional Gastrointestinal Disease in Autism Spectrum Disorder: A Retrospective Descriptive Study in a Clinical Sample}}. {Frontiers in psychiatry}. 2019; 10: 179.
Introduction: Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders with complex multifactorial etiologies. Medical comorbidities are common in ASD and include functional gastrointestinal disorders (fGID), which are reported in 30-70% of patients. In this research study, we aimed to systematically assess the prevalence of gastrointestinal problems in ASD and describe their clinical correlates. Methods: In this retrospective study, we reviewed the medical records of all patients admitted to the Comprehensive Medical Program for ASD (AMITEA) at Gregorio Maranon University General Hospital from January 2012 to December 2015. All patients fulfilled the clinical criteria for ASD (DSM-IV-TR). In addition to fGID, epidemiological and clinical variables were collected at intake. Clinical and demographic features were compared among subjects with and without comorbid gastrointestinal problems. Results: The analyses included all patients with documented information about presence/absence of fGID (n = 845; 95% of patients). Ages ranged from 1 to 53 years (mean = 10.52; SD = 8.92; 80.4% males). At least one fGID was present in 30.5% of patients, constipation being the most prevalent (47.4% of fGID patients); fGID were significantly associated with intellectual disability (ID) (p = 0.017), sleep disorders (p = 0.012), and prescription of psychopharmacological treatment (p = 0.019). Conclusions: Almost one-third of ASD patients in our sample had at least one fGID. The presence of fGID was associated with ID, sleep problems and with behavioral problems (as measured by the prescription of psychotropic drugs). This subsample of ASD patients with fGID deserves particular attention in future research projects, focusing on specific phenotypic characteristics and overlapping biological markers that may underlie both pathologies.
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21. Pimlott N. {{Aging with intellectual and developmental disabilities: Family physicians can make a difference}}. {Canadian family physician Medecin de famille canadien}. 2019; 65(Suppl 1): S3.
22. Potvin LA, Fulford C, Ouellette-Kuntz H, Cobigo V. {{What adults with intellectual and developmental disabilities say they need to access annual health examinations: System navigation support and person-centred care}}. {Canadian family physician Medecin de famille canadien}. 2019; 65(Suppl 1): S47-s52.
OBJECTIVE: To gain an understanding of the support needs of adults with intellectual and developmental disabilities (IDD) when scheduling, traveling to, and attending annual health examinations (AHEs). DESIGN: Qualitative study that is part of a large population-level intervention aiming to increase uptake of AHEs among adults with IDD. SETTING: Ontario. PARTICIPANTS: A total of 8 men and 5 women with IDD took part in semistructured interviews about their personal experiences related to AHEs. METHODS: Thematic analysis was used to examine experiences relating to scheduling, traveling to, and attending AHEs. MAIN FINDINGS: Support emerged as the overarching theme. Support included assistance navigating the health care system (assistance scheduling AHEs, reminders to book AHEs, financial assistance, transportation) and person-centred care (respect of privacy and autonomy, communication style, kindness, compassion, rapport with physician, health advocacy, and collaboration). Barriers to this support were also identified (lack of rapport, perception of unfriendliness, perception that the physician is too busy to tend to needs, and perception that the physician did not want to perform AHEs). CONCLUSION: For adults with IDD, system navigation support and person-centred care were central to accessing AHEs. In collaboration with informal caregivers, physicians have an important role in reducing barriers to patients accessing this valuable preventive care opportunity. Physicians can fulfil some of the needs disclosed by adults with IDD related to attending AHEs by offering support for scheduling appointments, by linking patients with IDD to resources that facilitate appointment attendance, and by increasing consultation duration.
23. Smith G, Ouellette-Kuntz H, Green M. {{Comprehensive preventive care assessments for adults with intellectual and developmental disabilities: Part 2: 2003 to 2014}}. {Canadian family physician Medecin de famille canadien}. 2019; 65(Suppl 1): S53-s8.
OBJECTIVE: To determine if there has been an increase in preventive care among adults with intellectual and developmental disabilities (IDD) as a result of the publication of the Canadian consensus guidelines on the care of adults with IDD in 2006 and 2011. DESIGN: Ecological study. SETTING: Ontario. PARTICIPANTS: The study group consisted of community-dwelling adults with IDD between the ages of 40 and 64 living in Ontario identified in 2009-2010 through administrative health and social services data. The comparison group consisted of a propensity-score-matched sample of the remaining Ontario population. MAIN OUTCOME MEASURES: A combined measure of a health examination or a Primary Care Quality Composite Score (PCQS) of 0.6 or greater, or both. Both measures were identified using administrative health data. RESULTS: Adults with IDD were 2.04% more likely to have had a health examination or a PCQS of 0.6 or greater before 2011-2012 and 1.70% less likely after 2011-2012. Adults without IDD were 1.03% more likely before 2011-2012 and 13.74% less likely after 2011-2012 to have had a health examination or a PCQS of 0.6 or greater. Male patients with IDD were 15.60% more likely and male patients without IDD were 7.39% less likely to have had a health examination or PCQS of 0.6 or greater compared with female patients. CONCLUSION: Despite the publication of the guidelines there has not been a corresponding increase in the uptake of the annual health examination or in the quality of preventive care among adults with IDD. More is required to reduce this documented inequity in care.
24. Smith REW, Avery JA, Wallace GL, Kenworthy L, Gotts SJ, Martin A. {{Sex Differences in Resting-State Functional Connectivity of the Cerebellum in Autism Spectrum Disorder}}. {Front Hum Neurosci}. 2019; 13: 104.
Autism spectrum disorder (ASD) is more prevalent in males than females, but the underlying neurobiology of this sex bias remains unclear. Given its involvement in ASD, its role in sensorimotor, cognitive, and socio-affective processes, and its developmental sensitivity to sex hormones, the cerebellum is a candidate for understanding this sex difference. The current study used resting-state functional magnetic resonance imaging (fMRI) to investigate sex-dependent differences in cortico-cerebellar organization in ASD. We collected resting-state fMRI scans from 47 females (23 ASD, 24 controls) and 120 males (56 ASD, 65 controls). Using a measure of global functional connectivity (FC), we ran a linear mixed effects analysis to determine whether there was a sex-by-diagnosis interaction in resting-state FC. Subsequent seed-based analyses from the resulting clusters were run to clarify the global connectivity effects. Two clusters in the bilateral cerebellum exhibited a diagnosis-by-sex interaction in global connectivity. These cerebellar clusters further showed a pattern of interaction with regions in the cortex, including bilateral fusiform, middle occipital, middle frontal, and precentral gyri, cingulate cortex, and precuneus. Post hoc tests revealed a pattern of cortico-cerebellar hyperconnectivity in ASD females and a pattern of hypoconnectivity in ASD males. Furthermore, cortico-cerebellar FC in females more closely resembled that of control males than that of control females. These results shed light on the sex-specific pathophysiology of ASD and are indicative of potentially divergent neurodevelopmental trajectories for each sex. This sex-dependent, aberrant cerebellar connectivity in ASD might also underlie some of the motor and/or socio-affective difficulties experienced by members of this population, but the symptomatic correlate(s) of these brain findings remain unknown. Clinical Trial Registration: www.ClinicalTrials.gov, NIH Clinical Study Protocol 10-M-0027 (ZIA MH002920-09) identifier #NCT01031407.
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25. Sokol DK, Maloney B, Westmark CJ, Lahiri DK. {{Novel Contribution of Secreted Amyloid-beta Precursor Protein to White Matter Brain Enlargement in Autism Spectrum Disorder}}. {Frontiers in psychiatry}. 2019; 10: 165.
The most replicated neuroanatomical finding in autism is the tendency toward brain overgrowth, especially in younger children. Research shows that both gray and white matter are enlarged. Proposed mechanisms underlying brain enlargement include abnormal inflammatory and neurotrophic signals that lead to excessive, aberrant dendritic connectivity via disrupted pruning and cell adhesion, and enlargement of white matter due to excessive gliogenesis and increased myelination. Amyloid-beta protein precursor (betaAPP) and its metabolites, more commonly associated with Alzheimer’s disease (AD), are also dysregulated in autism plasma and brain tissue samples. This review highlights findings that demonstrate how one betaAPP metabolite, secreted APPalpha, and the ADAM family alpha-secretases, may lead to increased brain matter, with emphasis on increased white matter as seen in autism. sAPPalpha and the ADAM family alpha-secretases contribute to the anabolic, non-amyloidogenic pathway, which is in contrast to the amyloid (catabolic) pathway known to contribute to Alzheimer disease. The non-amyloidogenic pathway could produce brain enlargement via genetic mechanisms affecting mRNA translation and polygenic factors that converge on molecular pathways (mitogen-activated protein kinase/MAPK and mechanistic target of rapamycin/mTOR), promoting neuroinflammation. A novel mechanism linking the non-amyloidogenic pathway to white matter enlargement is proposed: alpha-secretase and/or sAPPalpha, activated by ERK receptor signaling activates P13K/AKt/mTOR and then Rho GTPases favoring myelination via oligodendrocyte progenitor cell (OPC) activation of cofilin. Applying known pathways in AD to autism should allow further understanding and provide options for new drug targets.
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26. Stringer K, Ryan BL, Terry AL, Pike A. {{Primary care of adults with severe and profound intellectual and developmental disabilities: Family physicians’ perspectives on patient-physician relationships}}. {Canadian family physician Medecin de famille canadien}. 2019; 65(Suppl 1): S59-s65.
OBJECTIVE: To explore family physicians’ perspectives on the development of the patient-physician relationship with adult patients living with severe or profound intellectual and developmental disabilities (IDD). DESIGN: Constructivist grounded theory. SETTING: St John’s, NL, and across Canada. PARTICIPANTS: Fifteen family physicians currently caring for patients with severe or profound IDD. METHODS: Data were collected via in-depth, semistructured interviews conducted in-person or by telephone. Interviews were audiorecorded and transcribed verbatim. Field notes were documented immediately by the interviewer and discussed with the research team. Memos in the form of reflective notes served as additional sources of data. MAIN FINDINGS: From the perspective of family physicians, the core process in the development of the patient-physician relationship was acceptance. This acceptance was bidirectional. With respect to family physicians accepting patients, family physicians had to accept that their patients with severe and profound IDD were as equally deserving of their respect as any other patient-as unique individuals with their own goals and potential. With respect to patients accepting their family physicians, family physicians had to seek out signs of acceptance from their patients to fully appreciate and develop a trusting relationship. This bidirectional process of acceptance required family physicians to adapt the way they practised (eg, by spending more time with the patient and finding alternate forms of communication). It also required family physicians to define their role (eg, building trust and being an advocate) in a relationship that had the patient as the primary focus but simultaneously acknowledged the important involvement of the caregiver. CONCLUSION: For family physicians, the process of acceptance seems to underpin the development of the patient-physician relationship with adult patients with severe or profound IDD. Findings highlight the need for family physicians to adapt the way they deliver care to these patients and define their role in these complex relationships. Ultimately, this study highlights family physicians’ acceptance of their patients’ humanity regardless of the nature of the relationship that was created between them.
27. Sullivan WF, Heng J, Abells D, Perry A, Henze M. {{Supporting adults with intellectual and developmental disabilities to cope and thrive through transitions to later-life phases}}. {Canadian family physician Medecin de famille canadien}. 2019; 65(Suppl 1): S30-s2.
28. Sullivan WF, Heng J, McNeil K, Bach M, Henze M, Perry A, Vogt J. {{Promoting health care decision-making capabilities of adults with intellectual and developmental disabilities}}. {Canadian family physician Medecin de famille canadien}. 2019; 65(Suppl 1): S27-s9.
29. Sullivan WF, Heng J, Perry A, Bach M, Casson I. {{Aging that includes an intellectual and developmental disability: A time to flourish?}}. {Canadian family physician Medecin de famille canadien}. 2019; 65(Suppl 1): S5-s7.
30. Yamagata B, Itahashi T, Fujino J, Ohta H, Takashio O, Nakamura M, Kato N, Mimura M, Hashimoto RI, Aoki Y. {{Cortical surface architecture endophenotype and correlates of clinical diagnosis of autism spectrum disorder}}. {Psychiatry and clinical neurosciences}. 2019.
AIM: Prior structural MRI studies demonstrated atypical gray matter characteristics in siblings of individuals with autism spectrum disorder (ASD). However, they did not clarify which aspect of gray matter is related to the endophenotype (i.e. genetic vulnerability of) ASD. Further, because they did not enroll siblings of TD people, they may have underestimated the difference between individuals with ASD and their unaffected siblings. The current study aimed to address these gaps. METHODS: We recruited 30 pairs of adult male siblings (15 with an ASD endophenotype, and 15 pairs without) and focused on four gray matter parameters: cortical volume and three surface-based parameters (cortical thickness, fractal dimension, and sulcal depth [SD]). First, we sought to identify a pattern of an ASD endophenotype, comparing the four parameters. Then, we compared individuals with ASD and their unaffected siblings in the cortical parameters to identify neural correlates for the clinical diagnosis accounting for the difference between TD siblings. RESULTS: A sparse logistic regression with a leave-one-pair-out cross-validation showed the highest accuracy for the identification of an ASD endophenotype (73.3%) with the SD compared with the other three parameters. A bootstrapping analysis accounting for the difference in the SD between TD siblings showed a significantly large difference between individuals with ASD and their unaffected siblings in six out of 68 regions-of-interest. CONCLUSIONS: This proof-of-concept study suggests that an ASD endophenotype emerges in SD and that neural bases for ASD diagnosis can be discerned from the endophenotype when accounted for the difference between TD siblings. (250/250 words) This article is protected by copyright. All rights reserved.
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31. Zworth M, Selick A, Durbin J, Casson I, Lunsky Y. {{Improving care for adults with intellectual and developmental disabilities: Role of clerical staff}}. {Canadian family physician Medecin de famille canadien}. 2019; 65(Suppl 1): S8-s10.
