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BACKGROUND: Screening is important for early identification of children with autism spectrum disorder (ASD), potentially leading to earlier intervention. Research has identified some barriers to early identification of ASD, however, information about ASD screening in Canadian general paediatric practice is lacking. OBJECTIVES: The aim of the study is to better understand ASD screening practice patterns by examining the use of ASD and general developmental screening tools by general paediatricians. METHODS: The research team conducted a cross-sectional survey of general paediatricians. RESULTS: Two-hundred and sixty-seven paediatricians responded and 132 were eligible for the study. Ninety-three per cent of the responders used a developmental screening tool. Eighty-five per cent of the responders used an ASD screening tool when there were concerns for ASD, and 15% never used one. The most commonly used ASD screening tool was the M-CHAT. Children suspected of having ASD were referred to specialists not only to confirm the diagnosis but also to facilitate access to resources. General paediatricians were keen to incorporate formal ASD screening tools in their practice but identified the need for clearer guidelines. CONCLUSION: Previous studies have shown that children at risk of ASD continue to be missed through developmental surveillance and targeted screening. Paediatricians are interested in implementing an ASD screening tool and cite brevity and forms that can be completed by parents as factors that would support the use of a screening tool. Clearer guidelines and tools to support ASD screening and access to resources are needed.
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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.
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Deficiências do Desenvolvimento , Medicina de Família e Comunidade/educação , Serviços de Saúde para Pessoas com Deficiência , Deficiência Intelectual , Internato e Residência/métodos , Médicos de Família/educação , Adulto , Canadá , Competência Clínica , Currículo , Feminino , Humanos , Masculino , Médicos de Família/psicologiaRESUMO
OBJECTIVE: To provide primary care physicians with an understanding of the causes of behaviours that challenge (BTC) in adults with intellectual and developmental disabilities (IDD), as presented in the 2018 Canadian consensus guidelines for primary care of adults with IDD; to offer a systematic approach to the assessment and treatment of such behaviours; and to link to tools to support these assessments. SOURCES OF INFORMATION: This review elaborates upon guidelines 26 to 29 in the mental health section of the 2018 Canadian consensus guidelines. Several of the authors participated in the development of these guidelines, which were based on literature searches and interdisciplinary input. MAIN MESSAGE: Most adults with IDD are followed by primary care providers but they comprise a small proportion of primary care practices. Unique ways of communicating needs, diagnostic queries, and BTC are common in this population. This complexity can lead to missed diagnoses and inappropriate antipsychotic medication use with attendant risks. This article presents a systematic approach, HELP, to the assessment and treatment of factors of Health, Environment, Lived experience, and Psychiatric conditions that can lead to BTC and includes tools to support these assessments. CONCLUSION: A structured approach to the assessment and treatment of BTC in adults with IDD helps family physicians provide guideline-directed, individualized care to this population. This includes a systematic evaluation using the HELP framework that takes place over multiple visits. A team of health professionals might be needed for optimal care, but these resources are not routinely available across Canada.
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Deficiências do Desenvolvimento/terapia , Deficiência Intelectual/terapia , Exame Físico/métodos , Relações Médico-Paciente , Atenção Primária à Saúde/métodos , Adulto , Agressão/fisiologia , Canadá , Comunicação , Feminino , Síndrome do Cromossomo X Frágil/terapia , Humanos , Guias de Prática Clínica como Assunto , Medição de Risco , Adulto JovemRESUMO
OBJECTIVE: To demonstrate how family physicians can contribute to a piece of the journey of improving quality-of-life outcomes for people with intellectual and developmental disabilities (IDD) when they undergo the transition from adolescence to adulthood. SOURCES OF INFORMATION: The "Primary care of adults with intellectual and developmental disabilities. 2018 Canadian consensus guidelines" literature review and interdisciplinary input. MAIN MESSAGE: Family physicians should be proactive in anticipating and supporting the transition of people with IDD from adolescence to adulthood. Interventions should be guided by a developmental perspective regarding the person with IDD and a life-cycle approach to supporting families. Family physicians also have a role in helping people with IDD and their families to navigate successfully through changing community-based support systems in their province, especially health care and social services systems. Therefore, family physicians should be aware of current services available in their regions. CONCLUSION: Community and team-based family physicians can optimize the quality of life of people with IDD and their families by adopting a proactive developmental and systems approach to preparing youth with IDD for adulthood. In doing so, they exemplify the 4 principles of family medicine.
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Deficiências do Desenvolvimento/terapia , Deficiência Intelectual/terapia , Atenção Primária à Saúde/métodos , Transição para Assistência do Adulto/normas , Adolescente , Adulto , Canadá , Criança , Pessoas com Deficiência , Feminino , Humanos , Relações Médico-Paciente , Guias de Prática Clínica como Assunto , Adulto JovemRESUMO
Creatine deficiency syndrome (CDS) comprises three separate enzyme deficiencies with overlapping clinical presentations: arginine:glycine amidinotransferase (GATM gene, glycine amidinotransferase), guanidinoacetate methyltransferase (GAMT gene), and creatine transporter deficiency (SLC6A8 gene, solute carrier family 6 member 8). CDS presents with developmental delays/regression, intellectual disability, speech and language impairment, autistic behaviour, epileptic seizures, treatment-refractory epilepsy, and extrapyramidal movement disorders; symptoms that are also evident in children with autism. The objective of the study was to test the hypothesis that genetic variability in creatine metabolism genes is associated with autism. We sequenced GATM, GAMT and SLC6A8 genes in 166 patients with autism (coding sequence, introns and adjacent untranslated regions). A total of 29, 16 and 25 variants were identified in each gene, respectively. Four variants were novel in GATM, and 5 in SLC6A8 (not present in the 1000 Genomes, Exome Sequencing Project (ESP) or Exome Aggregation Consortium (ExAC) databases). A single variant in each gene was identified as non-synonymous, and computationally predicted to be potentially damaging. Nine variants in GATM were shown to have a lower minor allele frequency (MAF) in the autism population than in the 1000 Genomes database, specifically in the East Asian population (Fisher's exact test). Two variants also had lower MAFs in the European population. In summary, there were no apparent associations of variants in GAMT and SLC6A8 genes with autism. The data implying there could be a lower association of some specific GATM gene variants with autism is an observation that would need to be corroborated in a larger group of autism patients, and with sub-populations of Asian ethnicities. Overall, our findings suggest that the genetic variability of creatine synthesis/transport is unlikely to play a part in the pathogenesis of autism spectrum disorder (ASD) in children.
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Amidinotransferases/genética , Transtorno do Espectro Autista/genética , Creatinina/metabolismo , Variação Genética , Guanidinoacetato N-Metiltransferase/genética , Proteínas do Tecido Nervoso/genética , Proteínas da Membrana Plasmática de Transporte de Neurotransmissores/genética , Amidinotransferases/metabolismo , Transtorno do Espectro Autista/metabolismo , Criança , Pré-Escolar , Feminino , Guanidinoacetato N-Metiltransferase/metabolismo , Humanos , Masculino , Proteínas do Tecido Nervoso/metabolismo , Proteínas da Membrana Plasmática de Transporte de Neurotransmissores/metabolismo , Estudos ProspectivosRESUMO
Sleep disturbance is common in children with autism, resulting in a great need for effective treatments. To evaluate treatments for sleep disturbance in this population, it is critical to understand the relationship between measures of sleep captured by parent report and objective measures. The Children's Sleep Habits Questionnaire (CSHQ) and actigraphy-measured data from 80 children with autism and sleep-onset delay were evaluated. Reported problems with sleep-onset delay were concurrent with sleep duration problems in 66% of children, night wakings in 72% of children, and bedtime resistance in 66% of children; 38% of children were reported to have problems with all CSHQ insomnia domains. Actigraphy-measured sleep duration was correlated with estimates using CSHQ-reported bed and wake times.
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Actigrafia , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/fisiopatologia , Educação em Saúde , Pais/educação , Transtornos do Sono-Vigília/complicações , Transtornos do Sono-Vigília/fisiopatologia , Sono , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pais/psicologia , Distúrbios do Início e da Manutenção do Sono/complicações , Distúrbios do Início e da Manutenção do Sono/fisiopatologia , Medicina do Sono/educação , Inquéritos e QuestionáriosRESUMO
The literature has been highly informative for when to use actigraphy and its validity in pediatric research. However, minimal literature exists on how to perform actigraphy, especially in special populations. We determined whether providing actigraphy training to parents and coordinators increased the nights of actigraphy data that could be scored. We compared two studies in children with autism spectrum disorders, one of which provided a basic level of training in a single-site trial and the other of which provided more detailed training to parents and coordinators in a multisite trial. There was an increase in scorable nights in the multisite trial containing a one-hour structured parent training session. Our results support the use of educational tools in clinical trials that use actigraphy.
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Actigrafia/métodos , Cuidadores/educação , Deficiências do Desenvolvimento/fisiopatologia , Pais/educação , Criança , Transtornos Globais do Desenvolvimento Infantil/fisiopatologia , Pré-Escolar , Ensaios Clínicos como Assunto/métodos , Feminino , Humanos , Masculino , Estudos Multicêntricos como Assunto/métodos , Medicina do Sono/métodosRESUMO
Children and adolescents with autism spectrum disorder (ASD) and/or Intellectual/Developmental Disability (IDD) are at greater risk of developing comorbid medical conditions, mental health diagnoses, behavioral challenges, and having overall poorer physical and mental health outcomes. Hospital environments present unique stressors and challenges for children and adolescents with ASD/IDD including a change in familiar environment, unpredictable routines, and exposure to sensory stimuli that may be overwhelming. While many school boards have specialized multi-disciplinary special needs support teams and services made up of professionals with expertise in supporting students with ASD/IDD, most hospitals do not have a formal multi-disciplinary ASD/IDD support team in place to support patients, families, and health care staff across the hospital. There is an emerging recognition of the need for specialized multi-disciplinary developmental-behavioral and mental health expertise in hospital inpatient settings. This paper describes the framework for the development of an innovative multi-disciplinary program to better support children and adolescents with ASD/IDD within a tertiary children's hospital setting.
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BACKGROUND: Children and youth with autism spectrum disorder (ASD) may manifest self-injurious behaviors (SIB) that may become severe and refractory with limited pharmacologic or behavioral treatment options. Here, we present the protocol of a prospective, mixed-methods study to assess the safety and efficacy of deep brain stimulation (DBS) of the nucleus accumbens (NAcc) for children and youth with ASD and severe, refractory SIB. METHODS: This is a prospective, single-center, single-cohort, open-label, non-randomized pilot trial of 6 patients. Participants will be recruited through specialized behavioral clinics with persistent severe and refractory SIB following standard and intensive interventions. Following NAcc-DBS, participants will be enrolled in the study for 12 months. The primary objectives of the study are safety and feasibility, assessed by rate of recruitment and identification of factors impacting adherence to follow-up and study protocol. Potential treatment efficacy will be assessed by changes in the Children's Yale-Brown Obsessive-Compulsive Scale in ASD (CYBOCS-ASD), the Behavior Problems Index (BPI), the Inventory of Statements about Self-Injury (ISAS) and the Repetitive Behavior Scale-Revised (RBS-R) questionnaires. Additional clinical outcomes will be assessed, including measures of participant and caregiver quality of life, actigraph measurements, and positron emission tomography (PET) changes following DBS. DISCUSSION: This study will be the first to evaluate the effect of DBS of the NAcc on a pediatric population in a controlled, prospective trial. Secondary outcomes will improve the understanding of behavioral, neuro-imaging, and electrophysiologic changes in children with ASD and SIB treated with DBS. This trial will provide an estimated effect size of NAcc-DBS for severe refractory SIB in children with ASD in preparation for future comparative trials. TRIAL REGISTRATION: Registration on ClinicalTrials.gov was completed on 12 June 2019 with the Identifier: NCT03982888 .
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This study examined motor behaviors in a longitudinal cohort of infant siblings of children with autism. Stereotypic movements and postures occurring during standardized observational assessments at 12 and 18 months were coded from videotapes. Participants included eight infant siblings later diagnosed with autism spectrum disorder (ASD), a random sample of nine non-diagnosed siblings, and 15 controls. Videos were coded blind to diagnostic group. At 12 and 18 months the ASD group "arm waved" more frequently and at 18 months, one posture ("hands to ears") was more frequently observed in the ASD and non-diagnosed group compared to the controls. Overall, the siblings subsequently diagnosed with ASD and the comparison groups had considerable overlap in their repertoires of stereotyped behaviors.
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Transtorno Autístico/epidemiologia , Irmãos , Transtorno de Movimento Estereotipado/epidemiologia , Gravação de Videoteipe , Criança , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Mãos , Humanos , Lactente , Masculino , Variações Dependentes do Observador , Projetos Piloto , Postura , Fatores de RiscoRESUMO
BACKGROUND AND OBJECTIVE: Creatine deficiency may play a role in the neurobiology of autism and may represent a treatable cause of autism. The goal of the study was to ascertain the prevalence of creatine deficiency syndromes (CDSs) in children with autism spectrum disorder (ASD). METHODS: In a prospective multicenter study, 443 children were investigated after a confirmed diagnosis of ASD. Random spot urine screening for creatine metabolites (creatine, guanidinoacetate, creatinine, and arginine) with liquid chromatography-tandem mass spectrometry and second-tier testing with high-performance liquid chromatography methodology was followed by recall testing in 24-hour urines and confirmatory testing by Sanger-based DNA sequencing of GAMT, GATM, and SLC6A8 genes. Additional diagnostic tests included plasma creatine metabolites and in vivo brain proton magnetic resonance spectroscopy. The creatine metabolites in spot urine in the autism group were compared with 128 healthy controls controlled for age. RESULTS: In 443 subjects with ASD investigated for CDS, we had 0 events (event: 0, 95% confidence interval 0-0.0068), therefore with 95% confidence the prevalence of CDS is <7 in 1000 children with ASD. The autism and control groups did not vary in terms of creatine metabolites (P > .0125) in urine. CONCLUSION: Our study revealed a very low prevalence of CDS in children with nonsyndromic ASD and no obvious association between creatine metabolites and autism. Unlike our study population, we expect more frequent CDS among children with severe developmental delay, speech impairment, seizures, and movement disorders in addition to impairments in social communication, restricted interests, and repetitive behaviors.
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Transtorno Autístico/complicações , Creatina/deficiência , Adolescente , Criança , Pré-Escolar , Deficiências Nutricionais/complicações , Deficiências Nutricionais/epidemiologia , Feminino , Humanos , Masculino , Prevalência , Estudos Prospectivos , SíndromeRESUMO
This study provided sleep education to parents of children with autism spectrum disorder (ASD) to determine whether an individual or group format was more effective in improving sleep and aspects of daytime behavior and family functioning. Eighty children, ages 2-10 years, with ASD and sleep onset delay completed the study. Actigraphy and parent questionnaires were collected at baseline and 1 month after treatment. Mode of education did not affect outcomes. Sleep latency, insomnia subscales on the Children's Sleep Habits Questionnaire, and other outcomes related to child and family functioning improved with treatment. Parent-based sleep education, delivered in relatively few sessions, was associated with improved sleep onset delay in children with ASD. Group versus individualized education did not affect outcome.