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Joint attention (JA) is the purposeful coordination of an individual's focus of attention with that of another and begins to develop within the first year of life. Delayed, or atypically developing, JA is an early behavioral sign of many developmental disabilities and so assessing JA in infancy can improve our understanding of trajectories of typical and atypical development. This scoping review identified the most common methods for assessing JA in the first year of life. Methods of JA were divided into qualitative and quantitative categories. Out of an identified 13,898 articles, 106 were selected after a robust search of four databases. Frequent methods used were eye tracking, electroencephalography (EEG), behavioral coding and the Early Social Communication Scale (ECSC). These methods were used to assess JA in typically and atypically developing infants in the first year of life. This study provides a comprehensive review of the past and current state of measurement of JA in the literature, the strengths and limitations of the measures used, and the next steps to consider for researchers interested in investigating JA to strengthen this field going forwards.
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AIM: To examine parental concerns about children at increased familial risk (i.e. high risk) of developing autism spectrum disorder (ASD) in early infancy. METHOD: ASD-related and general parental concerns were prospectively collected for 76 infants at ages 1.5, 3, 6, 9, 12, and 18 months. Outcome classification was determined at 36 months. Analyses included generalized linear mixed models and qualitative evaluation of parental concerns in relation to risk status (high vs low risk) and outcome classification within the high-risk group (atypically developing vs typically developing) over time. RESULTS: Most parents had no concerns at 1.5 (high risk 71%, low risk 87%) and 3 months (high risk 77%, low risk 86%). Beginning at 6 months, parents of high-risk infants reported more ASD-related (p<0.001) and general concerns (p=0.003) than parents of low-risk infants. Beginning at 12 months, parents of high-risk atypically developing infants reported more ASD-related concerns than parents of high-risk typically developing infants (p=0.013). INTERPRETATION: Clinicians should elicit parental concerns and provide support, as parents are worried about their high-risk infants by age 6 months. Additionally, parents' abilities to identify concerns that are suggestive of ASD by age 12 months may aid in earlier screening and intervention. What this paper adds Most parents did not report concerns during early infancy. By 6 months, parents of high-risk infants reported autism spectrum disorder (ASD)-related and general concerns. By 12 months, parents of high-risk atypically developing infants identified ASD-related concerns.
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Ansiedade/psicologia , Transtorno do Espectro Autista/diagnóstico , Pais/psicologia , Fatores Etários , Transtorno do Espectro Autista/psicologia , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Fatores de RiscoRESUMO
BACKGROUND: Motor dysfunction has been reported as one of the first signs of atypical development in infants at high familial risk for autism spectrum disorder (ASD) (HR infants). However, studies have shown inconsistent results regarding the nature of motor dysfunction and whether it can be predictive of later ASD diagnosis. This is likely because current standardized motor assessments may not identify subtle and specific motor impairments that precede clinically observable motor dysfunction. Quantitative measures of motor development may address these limitations by providing objective evaluation of subtle motor differences in infancy. METHODS: We used Opal wearable sensors to longitudinally evaluate full day motor activity in HR infants, and develop a measure of motion complexity. We focus on complexity of motion because optimal motion complexity is crucial to normal motor development and less complex behaviors might represent repetitive motor behaviors, a core diagnostic symptom of ASD. As proof of concept, the relationship of the motion complexity measure to developmental outcomes was examined in a small set of HR infants. RESULTS: HR infants with a later diagnosis of ASD show lower motion complexity compared to those that do not. There is a stronger correlation between motion complexity and ASD outcome compared to outcomes of cognitive ability and adaptive skills. CONCLUSIONS: Objective measures of motor development are needed to identify characteristics of atypical infant motor function that are sensitive and specific markers of later ASD risk. Motion complexity could be used to track early infant motor development and to discriminate HR infants that go on to develop ASD.
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Transtorno do Espectro Autista , Dispositivos Eletrônicos Vestíveis , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Cognição , Predisposição Genética para Doença , Humanos , Lactente , TecnologiaRESUMO
Duplication of 15q11.2-q13.1 (dup15q syndrome) is one of the most common copy number variations associated with autism spectrum disorders (ASD) and intellectual disability (ID). As with many neurogenetic conditions, accurate behavioral assessment is challenging due to the level of impairment and heterogeneity across individuals. Large-scale phenotyping studies are necessary to inform future clinical trials in this and similar ID syndromes. This study assessed developmental and behavioral characteristics in a large cohort of children with dup15q syndrome, and examined differences based on genetic subtype and epilepsy status. Participants included 62 children (2.5-18 years). Across individuals, there was a wide range of abilities. Although adaptive behavior was strongly associated with cognitive ability, adaptive abilities were higher than cognitive scores. Measures of ASD symptoms were associated with cognitive ability, while parent report of challenging behavior was not. Both genetic subtype and epilepsy were related to degree of impairment across cognitive, language, motor, and adaptive domains. Children with isodicentric duplications and epilepsy showed the greatest impairment, while children with interstitial duplications showed the least. On average, participants with epilepsy experienced seizures over 53% of their lives, and half of children with epilepsy had infantile spasms. Parents of children with isodicentric duplications reported more concerns regarding challenging behaviors. Future trials in ID syndromes should employ a flexible set of assessments, allowing each participant to receive assessments that capture their skills. Multiple sources of information should be considered, and the impact of language and cognitive ability should be taken into consideration when interpreting results.
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Transtorno do Espectro Autista/genética , Variações do Número de Cópias de DNA/genética , Epilepsia/genética , Deficiência Intelectual/genética , Adolescente , Transtorno do Espectro Autista/patologia , Criança , Pré-Escolar , Aberrações Cromossômicas , Duplicação Cromossômica/genética , Cromossomos Humanos Par 15/genética , Estudos de Coortes , Epilepsia/patologia , Feminino , Humanos , Deficiência Intelectual/patologia , Masculino , LinhagemRESUMO
PURPOSE OF REVIEW: Motor impairments in neurodevelopmental disorders, specifically autism spectrum disorder (ASD), are prevalent and pervasive. Moreover, motor impairments may be the first sign of atypical development in ASD and likely contribute to abnormalities in social communication. However, measurement of motor function in ASD has lagged behind other behavioral phenotyping. Quantitative and neurodiagnostic measures of motor function can help identify specific motor impairments in ASD and the underlying neural mechanisms that might be implicated. These findings can serve as markers of early diagnosis, clinical stratification, and treatment targets. RECENT FINDINGS: Here, we briefly review recent studies on the importance of motor function to other developmental domains in ASD. We then highlight studies that have applied quantitative and neurodiagnostic measures to better measure motor impairments in ASD and the neural mechanisms that may contribute to these abnormalities. SUMMARY: Information from advanced quantitative and neurodiagnostic methods of motor function contribute to a better understanding of the specific and subtle motor impairments in ASD, and the relationship of motor function to language and social development. Greater utilization of these methods can assist with early diagnosis and development of targeted interventions. However, there remains a need to utilize these approaches in children with neurodevelopmental disorders across a developmental trajectory and with varying levels of cognitive function.
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Transtorno do Espectro Autista/diagnóstico , Transtornos das Habilidades Motoras/diagnóstico , Destreza Motora , Transtorno do Espectro Autista/fisiopatologia , Comunicação , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/fisiopatologia , Diagnóstico Precoce , Humanos , Transtornos das Habilidades Motoras/fisiopatologia , Prevalência , Comportamento SocialRESUMO
PURPOSE: Electrical status epilepticus in sleep (ESES) is an electrographic abnormality linked to language abnormalities and cognitive dysfunction and specifically associated with Landau-Kleffner syndrome (LKS), the syndrome of continuous spike and wave in slow-wave sleep (CSWS), and autistic regression with epileptiform EEG (AREE). As first-line therapies for treatment of ESES display inadequate efficacy and confer substantial risk, we set out to describe our center's experience with amantadine in the treatment of ESES. METHODS: Patients with video-EEG-confirmed ESES who received amantadine were retrospectively identified in a clinical EEG database. Spike-wave index, before and after amantadine exposure, was compared in a pairwise fashion. In an exploratory analysis, we cataloged reported changes in language functioning, cognition, and autistic features, which accompanied treatment. RESULTS: We identified 20 patients with ESES-associated syndromes. Median cumulative weighted average amantadine dosage was 2.1â¯mg/kg/d (interquartile range (IQR): 1.1, 4.5), and median duration of therapy was 11.5â¯months (IQR: 7.8, 26.6). In comparison with median baseline spike-wave index (76%), post-amantadine spike-wave index (53%) was reduced, with Pâ¯=â¯0.01. Six (30%) patients exhibited complete (or nearly complete) resolution of ESES. A majority of patients exhibited subjective cognitive, linguistic, or behavioral benefit. Amantadine was generally well-tolerated despite substantial dosage and duration of therapy. CONCLUSIONS: This study suggests that amantadine may be effective in the treatment of ESES-associated syndromes but warrants replication in a more rigorous study.
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Amantadina/uso terapêutico , Dopaminérgicos/uso terapêutico , Idioma , Sono/efeitos dos fármacos , Estado Epiléptico/tratamento farmacológico , Adolescente , Amantadina/administração & dosagem , Transtorno Autístico/complicações , Transtorno Autístico/tratamento farmacológico , Transtorno Autístico/fisiopatologia , Criança , Pré-Escolar , Cognição/efeitos dos fármacos , Disfunção Cognitiva/complicações , Disfunção Cognitiva/tratamento farmacológico , Disfunção Cognitiva/fisiopatologia , Dopaminérgicos/administração & dosagem , Eletroencefalografia , Feminino , Humanos , Síndrome de Landau-Kleffner/complicações , Síndrome de Landau-Kleffner/fisiopatologia , Masculino , Estudos Retrospectivos , Sono/fisiologia , Estado Epiléptico/complicações , Estado Epiléptico/fisiopatologia , Resultado do TratamentoAssuntos
Comitês Consultivos , Liderança , Neurologia , Inquéritos e Questionários , Criança , HumanosRESUMO
Early motor delays and differences are common among children with autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). Yet, little work has shown whether there are early atypical motor signs that differentiate these groups. Quantitative measures of movement variability hold promise for improving the identification of subtle and specific differences in motor function among infants and toddlers at high likelihood for ASD and ADHD. To this end, we created a novel quantitative measure of movement variability (movement curvature) and conducted a preliminary investigation as to whether this measure improves outcome predictions. We used a wearable triaxial accelerometer to evaluate continuous motion-based activity in infants at high and low likelihood for ASD and ADHD at 12, 18, 24, and 36 months of age. At 36 months, participants were categorized into three outcome groups: ASD (n = 19), ADHD concerns (n = 17), and a comparison group (n = 82). We examined group differences in movement curvature and whether movement curvature is predictive of a later ASD or ADHD concerns classification. We found that movement curvature was significantly lower in infants with later ASD diagnosis at 18, 24, and 36 months of age compared to infants with either ADHD concerns or those in the comparison group. Movement curvature was also a significant predictor of ASD at 18, 24, and 36 months (AUC 0.66-0.71; p = 0.005-0.039) and when adjusting for high ASD likelihood at 18 and 24 months (AUC 0.90, p = 0.05-0.019). These results indicate that lower movement curvature may be a feature of early motor differences in infants with later ASD diagnosis as early as 18 months of age.
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Acelerometria , Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Movimento , Dispositivos Eletrônicos Vestíveis , Humanos , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Masculino , Feminino , Lactente , Pré-Escolar , Movimento/fisiologia , Acelerometria/métodos , Acelerometria/instrumentaçãoRESUMO
The onset of walking is a major developmental milestone in early childhood and is critical to the development of language and social communication. Delays in walking have been described in individuals with ASD. Yet, less is known about the quality of early gait development in toddlers with ASD and the relationship to motor skills, social communication, and language. Quantitative measures of locomotion can improve our ability to evaluate subtle and specific motor differences in toddlers with ASD and their relationship to other developmental domains. We used quantitative gait analysis to evaluate locomotion in toddlers with ASD (n = 51) and compared these data to a reference chronological aged (CA) and mental aged (MA) matched typically developing (TD) cohort (n = 45). We also examined the relationship of quantitative gait metrics to developmental measures among toddlers with ASD. We found that although toddlers with ASD achieved a typical age range of walking onset, they exhibited a pattern of slower pace compared to the TD cohort when matched by CA and MA. We also found that slower measures of pace were associated with lower developmental scores of communication, motor skills, and adaptive function. Our findings improve characterization of locomotion in toddlers with ASD and the relationship of motor skills to other developmental domains.
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Transtorno do Espectro Autista , Transtorno Autístico , Humanos , Pré-Escolar , Destreza Motora , Comunicação , CaminhadaRESUMO
BACKGROUND: Organized physical activity programs have been shown to provide wide benefits to participants, though there are relatively few studies examining the impact of these programs for individuals with developmental disabilities. This pilot study was conducted to determine the feasibility and impact of an undergraduate-led dance intervention program for children and adolescents with developmental disabilities. We evaluated the impact of the dance program on motor ability and social skills. METHODS: The study design was a waitlist control clinical trial in which participants were randomized to active and control groups. Eligible participants included male and female children and adolescents between the ages of 4 and 17 years with neurodevelopmental disabilities. The Motor Assessment Battery for Children Checklist and the Social Responsiveness Scale were used to assess change in motor and social skills, respectively. After gathering baseline data, the active group completed 1 h of online dance classes per week for 10 weeks, while the control group entered a 10-week waiting period. All participants then returned for a follow-up visit. Pre- and post-intervention data were analyzed using linear mixed-effects modeling adjusting for age and class attendance with subject random intercept. RESULTS: We recruited and randomized 43 participants with neurodevelopmental disabilities (mean age = 8.63, SD = 2.98), of which 30 participated in dance classes. The attendance rate was 82.6% for the active group and 61.7% for the control group. The active group demonstrated a significant improvement in motor skills in an unpredictable environment, as indicated on the Motor Assessment Battery for Children Checklist (n = 21, p = 0.05). We also observed positive trends in social skills that did not reach significance. CONCLUSIONS: Our results indicate that it is feasible to develop and implement a fully digital dance intervention program for individuals with developmental disabilities. Further, we find that change in motor skills can be detected after just 10 h of low-intensity participation. However, a lack of significant change in social skills coupled with limitations in study implementation suggests further research is needed to determine the full impact of this dance program. TRIAL REGISTRATION: ClinicalTrials.gov Protocol Registration System: Protocol ID 20-001680-AM-00005, registered 17/2/2021 - Retrospectively Registered, https://clinicaltrials.gov/study/NCT04762290 .
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Background: Chromatin Modifying Disorders (CMD) have emerged as one of the most rapidly expanding genetic disorders associated with autism spectrum disorders (ASD). Motor impairments are also prevalent in CMD and may play a role in the neurodevelopmental phenotype. Evidence indicates that neurodevelopmental outcomes in CMD may be treatable postnatally; thus deep phenotyping of these conditions can improve clinical screening while improving the development of treatment targets for pharmacology and for clinical trials. Here, we present developmental phenotyping data on individuals with Bohring-Optiz Syndrome (BOS - ASXL1) and Bainbridge-Ropers Syndrome (BRS - ASXL3) related disorders, two CMDs highly penetrant for motor and developmental delays. Objectives: To phenotype the motor and neurodevelopmental profile of individuals with ASXL1 and ASXL3 related disorders (BOS and BRS). To provide a preliminary report on the association of motor impairments and ASD. Methods: Neurodevelopmental and motor phenotyping was conducted on eight individuals with pathogenic ASXL1 variants and seven individuals with pathogenic ASXL3 variants, including medical and developmental background intake, movement and development questionnaires, neurological examination, and quantitative gait analysis. Results: Average age of first developmental concerns was 4 months for individuals with BOS and 9 months in BRS. 100% of individuals who underwent the development questionnaire met a diagnosis of developmental coordination disorder. 71% of children with BOS and 0% of children with BRS noted movement difficulty greatly affected classroom learning. Participants with BRS and presumed diagnoses of ASD were reported to have more severe motor impairments in recreational activities compared to those without ASD. This was not the case for the individuals with BOS. Conclusion: Motor impairments are prevalent and pervasive across the ASXL disorders with and without ASD, and these impairments negatively impact engagement in school-based activities. Unique neurodevelopmental and motor findings in our data include a mixed presentation of hypo and hypertonia in individuals with BOS across a lifespan. Individuals with BRS exhibited hypotonia and greater variability in motor skills. This deep phenotyping can aid in appropriate clinical diagnosis, referral to interventions, and serve as meaningful treatment targets in clinical trials.
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INTRODUCTION: Autistic individuals, now representing one in 36 individuals in the U.S., experience disproportionate physical health challenges relative to non-autistic individuals. The Health Resources and Services Administration's (HRSA) Autism Intervention Research Network on Physical Health (AIR-P) is an interdisciplinary, multi-center Research Network that aims to increase the health, well-being, and quality of life of autistic individuals. The current paper builds on the initial AIR-P Research Agenda (proposed in Year 1) and provides an updated vision for the Network. METHODS: Updates to the Research Agenda were made via the administration of a Qualtrics survey, and disseminated widely to all AIR-P entities, including the Research Node Leaders, Steering Committee, Autistic Researcher Review Board, and collaborating academic and non-academic entities. Network members were tasked with evaluating the Year 1 Research Agenda and proposing additional priorities. RESULTS: Within each Research Node, all Year 1 priorities were endorsed as continued priorities for research on autism and physical health. Specific topics, including co-occurring conditions and self-determination, advocacy, and decision-making, were particularly endorsed. Opportunities for exploratory studies and intervention research were identified across Research Nodes. Qualitative responses providing feedback on additional research priorities were collected. CONCLUSION: The updated AIR-P Research Agenda represents an important step toward enacting large-scale health promotion efforts for autistic individuals across the lifespan. This updated agenda builds on efforts to catalyze autism research in historically underrepresented topic areas while adopting a neurodiversity-oriented approach to health promotion.
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BACKGROUND: The development of advanced genetic technologies has resulted in rapid identification of genetic etiologies of neurodevelopmental disorders (NDDs) and has transformed the classification and diagnosis of various NDDs. However, diagnostic genetics has far outpaced our ability to provide timely medical counseling, guidance, and care for patients with genetically defined NDDs. These patients and their caregivers present with an unmet need for care coordination across multiple domains including medical, developmental, and psychiatric care and for educational resources and guidance from care professionals. After a genetic diagnosis is made, families also face several barriers in access to informed diagnostic evaluations and medical support. METHODS: As part of Care and Research in Neurogenetics (CARING), a multidisciplinary clinical program for children and adults with neurogenetic disorders, we conducted qualitative clinical interviews about the diagnostic journey of families. This included the overall timeline to receiving diagnoses, experiences before and after diagnosis, barriers to care, and resources that helped them to navigate the diagnostic process. RESULTS: A total of 37 interviews were conducted with parents of children ages 16 months to 33 years. Several key themes were identified: (1) delays between initial caregiver observations and formal developmental or genetic diagnoses; (2) practical barriers to clinical evaluation and care, including long wait times for an appointment, lack of insurance coverage, availability of local evaluations, transportation difficulties, and native language differences; (3) the importance of being part of a patient advocacy group to help navigate the diagnostic journey; and (4) unique challenges faced by adults (18 years or older). CONCLUSIONS: Families of children with complex neurodevelopmental and genetic disabilities face numerous challenges in finding adequate medical care and services for their child. They experience considerable delays in receiving timely diagnoses and face significant barriers that further delay the process of receiving access to services needed for the child's continued care. The gaps indicated in this study speak to the need for more comprehensive coordination of care for patients with intellectual and developmental disabilities, as well as the development of systematic, disorder-specific resources both for providers and families in order to improve patient outcomes.
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Transtornos do Neurodesenvolvimento , Adulto , Cuidadores/psicologia , Criança , Família , Humanos , Lactente , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/genética , Pais/psicologiaRESUMO
This non-randomised pilot study evaluated the impact of a community football program on motor ability in children aged 5-12 years with autism spectrum disorder. Sixteen children were evaluated at baseline-and-post attendance in a football program for a varied number of weeks and compared to 19 children engaging in treatment-as-usual. Primary analyses indicated a statistically significant increase in total MABC-2, aiming and catching, and balance scores for the intervention group, with no changes in scores in the comparison group. There were no changes in manual dexterity across either group. At a between group level, the changes in aiming and catching scores were significantly greater for the intervention group. Further analyses highlighted the potential importance of social impairments regarding aiming and catching.
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Transtorno do Espectro Autista , Futebol Americano , Futebol , Criança , Humanos , Destreza Motora , Projetos PilotoRESUMO
OBJECTIVES: In the United States, autistic individuals experience disproportionate physical and mental health challenges relative to non-autistic individuals, including higher rates of co-occurring and chronic conditions and lower physical, social, and psychological health-related quality of life. The Autism Intervention Research Network on Physical Health (AIR-P) is an interdisciplinary, multicenter research network for scientific collaboration and infrastructure that aims to increase the life expectancy and quality of life for autistic individuals, with a focus on underserved or vulnerable populations. The current paper describes the development of the AIR-P Research Agenda. METHODS: Development of the research agenda involved an iterative and collaborative process between the AIR-P Advisory Board, Steering Committee, and Autistic Researcher Review Board. The methodology consisted of 3 phases: (1) ideation and design, (2) literature review and synthesis; and (3) network engagement. RESULTS: Six core research priorities related to the health of autistic individuals were identified: (1) primary care services and quality, (2) community-based lifestyle interventions, (3) health systems and services, (4) gender, sexuality, and reproductive health, (5) neurology, and (6) genetics. Specific topics within each of these priorities were identified. Four cross-cutting research priorities were also identified: (1) neurodiversity-oriented care, (2) facilitating developmental transitions, (3) methodologically rigorous intervention studies, and (4) addressing health disparities. CONCLUSIONS: The AIR-P Research Agenda represents an important step forward for enacting large-scale health-promotion efforts for autistic individuals across the lifespan. This agenda will catalyze autism research in historically underrepresented topic areas while adopting a neurodiversity-oriented approach to health-promotion.
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Transtorno Autístico , Transtorno Autístico/psicologia , Transtorno Autístico/terapia , Doença Crônica , Humanos , Qualidade de Vida , Estados UnidosRESUMO
Medical students need to understand core neuroscience principles as a foundation for their required clinical experiences in neurology. In fact, they need a solid neuroscience foundation for their clinical experiences in all other medical disciplines also, because the nervous system plays such a critical role in the function of every organ system. Due to the rapid pace of neuroscience discoveries, it is unrealistic to expect students to master the entire field. It is also unnecessary, as students can expect to have ready access to electronic reference sources no matter where they practice. In the pre-clerkship phase of medical school, the focus should be on providing students with the foundational knowledge to use those resources effectively and interpret them correctly. This article describes an organizational framework for teaching the essential neuroscience background needed by all physicians. This is particularly germane at a time when many medical schools are re-assessing traditional practices and instituting curricular changes such as competency-based approaches, earlier clinical immersion, and increased emphasis on active learning. This article reviews factors that should be considered when developing the pre-clerkship neuroscience curriculum, including goals and objectives for the curriculum, the general topics to include, teaching and assessment methodology, who should direct the course, and the areas of expertise of faculty who might be enlisted as teachers or content experts. These guidelines were developed by a work group of experienced educators appointed by the Undergraduate Education Subcommittee (UES) of the American Academy of Neurology (AAN). They were then successively reviewed, edited, and approved by the entire UES, the AAN Education Committee, and the AAN Board of Directors.
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Children with autism spectrum disorder (ASD) participate at lower rates in their community, and their caregivers experience higher levels of stress, in comparison to families of typically developing (TD) children. The social model of disability positions the environment as the central issue when children with disabilities are unable to participate, yet little is known about the relationship between poor community support, reduced community participation in children with ASD, and caregiver stress. This study examined caregiver perceptions of community supportiveness for the community participation of 48 children with ASD (aged 5-12 years), alongside caregiver-reported child ASD symptom severity, adaptive functioning, and caregiver stress. Community supportiveness predicted child involvement, but not attendance, when child characteristics were held constant. Caregiver perceptions of low community supportiveness significantly predicted caregiver feelings of isolation. The importance of modifying community programs to better support inclusion of children with ASD is discussed.
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Spinocerebellar ataxia type 21 (SCA21/ATX-TMEM240) is a rare form of cerebellar ataxia that commonly presents with motor, cognitive, and behavioral impairments. Although these features have been identified as part of the clinical manifestations of SCA21, the neurodevelopmental disorders associated with SCA21 have not been well studied or described. Here we present extensive phenotypic data for 3 subjects from an SCA21 family in the United States. Genetic testing demonstrated the c.196 G>A (p.Gly66Arg) variant to be a second recurrent mutation associated with the disorder. Standardized developmental assessment revealed significant deficits in cognition, adaptive function, motor skills, and social communication with 2 of the subjects having diagnoses of autism spectrum disorder, which has never been described in SCA21. Quantitative gait analysis showed markedly abnormal spatiotemporal gait variables indicative of poor gait control and cerebellar as well as noncerebellar dysfunction. Clinical evaluation also highlighted a striking variability in clinical symptoms, with greater ataxia correlating with greater severity of neurodevelopmental disorder diagnoses. Notably, neurodevelopmental outcomes have improved with intervention over time. Taken together, this case series identifies that the manifestation of neurodevelopmental disorders is a key feature of SCA21 and may precede the presence of motor abnormalities. Furthermore, the coexistence of ataxia and neurodevelopmental disorders in these subjects suggests a role for spinocerebellar pathways in both outcomes. The findings in this study highlight the importance of evaluation of neurodevelopmental concerns in the context of progressive motor abnormalities and the need for timely intervention to ultimately improve quality of life for individuals with SCA21.
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Marcha/fisiologia , Deficiência Intelectual/diagnóstico , Proteínas de Membrana/genética , Destreza Motora/fisiologia , Degenerações Espinocerebelares/diagnóstico , Adolescente , Encéfalo/diagnóstico por imagem , Criança , Cognição , Comunicação , Feminino , Humanos , Deficiência Intelectual/genética , Imageamento por Ressonância Magnética , Masculino , Mutação , Fenótipo , Degenerações Espinocerebelares/genética , Avaliação de SintomasRESUMO
Gait abnormalities are frequently reported in autism. The empirical literature, however, is characterized by inconsistent findings concerning which aspects of gait are affected. We conducted a meta-analysis to summarize study findings that examined temporal and spatial (i.e., two-dimensional) gait parameters in pediatric and adult samples comprising individuals with autism and healthy controls. After searching electronic databases, a total of 18 studies were identified and included in this review. Results from the meta-analyses revealed autism is associated with a wider step width, slower walking speed, longer gait cycle, longer stance time and longer step time. Additionally, autism appears to be associated with greater intra-individual variability on measures of stride length, stride time and walking speed. Meta-regression analyses revealed cadence and gait cycle duration differences, between autism and control groups, become more pronounced with age. Overall, this review demonstrates that autism is associated with gait abnormalities. However, assessment of the methodological quality of the studies reveal, additional research is required to understand the extent that gait abnormalities are specifically linked to autism, or whether they may be secondary to other factors commonly found in this group, such as increased weight. LAY SUMMARY: It is often noted by clinicians that individuals with autism have an awkward or unusual walking style, which is also referred to as gait. In this report, we reviewed past studies that compared gait in individuals with and without autism. Our review indicates autism is associated with an abnormal gait. However, it is not yet clear whether gait abnormalities are caused by autism, or arise due to other factors such as heavier weight, which often co-occurs in this group.