Autistic Patient Research Articles

A rare post-infectious autoimmune manifestation of COVID-19

The incidence of post-infectious autoimmune diseases has been on the rise following the COVID-19 pandemic. Recently, an autistic patient was admitted to the hospital presenting with a mild upper respiratory system COVID-19 infection. Months after recovery and polymerase chain reaction negativity, the patient developed HEp-2 cell positivity and presented with relapsing polychondritis (RP), a rare autoimmune disease. The mechanism of this autoimmune invasion is ultimately caused by activating a myriad of immune reactions. Lymphocytopenia almost always accompanies various clinical forms of COVID-19; however, it may drive the lymphocytopenia-induced proliferation of autoreactive T cells via the activation of interleukin-6 (IL-6). Moreover, high levels of neutrophils during infection promote autoimmune disease by releasing cytokine and chemokine cascades that accompany inflammation, and neutrophil extracellular traps regulating immune responses through cell–cell interactions. Furthermore, autism spectrum disorder patients display an altered immune system that includes an augmented inflammatory cytokine milieu leading to an increased pro-inflammatory Th1/Th2 ratio. In addition, the pathophysiology of RP is majorly associated with a cell-mediated immune reaction; thus, the predisposing exaggerated immune system of such patients must also be considered as a predisposing factor to the development of post-infectious autoimmune diseases.

Élever la bizarrerie à la dignité du style. Pour une éthique de l’accompagnement des patients autistes

ObjectivesThis article aims to identify how the analytical framework can lead an autistic subject to create an artisanal solution that allows him to enter the world. MethodThe Lacanian theoretical conceptualization is based on clinical observations collected during the treatment of a young autistic boy. ResultsWe argue that engaging in therapeutic work with an autistic patient can offer him a potential environment – which we distinguish from potential space – in which his particular quirks can be elevated to the dignity of a style that the autistic child will himself shape and that will allow him a certain social bond. DiscussionWe qualify the therapeutic space offered by the analytical framework as a potential environment, which we define as the coordinates of the encounter set up by the clinician bringing into existence a Stimmung from which the child can experience his or her instinctual movements. Stimmung is to be understood as the phenomenological quality of the potential environment, simultaneously including tuning, invocative address, disposition, and atmosphere, i.e. a possible relationship with the Other. Clinical intervention would allow the child not to represent himself in this potential environment – which is the nature of potential space –, but to present himself to the world. It is the clinician's responsibility to bring into existence an Other who can isolate and put into circulation the subject's oddity – which could be considered a failure – bringing forth a singularizing sign and elevating it to the dignity of style that the autistic child will shape. ConclusionThe style, thus obtained, corresponds to the possibility of a singular enunciative position – inscribing a presence in the world by tempering the weight of the subject –, which, in autism, always requires a certain amount of tinkering in order to arrive at a solution.

Preventive treatment alternatives in pediatric patients with autism spectrum disorder in the dental practice. literature review

Autism comes from the Greek word auto, which means "self." Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction and communication. Dental treatment in patients with ASD can be challenging due to their behavior. Therefore, this review discusses preventive treatment techniques for pediatric patients with ASD at the dental office, as the prevalence of children with autism is growing. Thus, dentists would face more patients with autism in their daily practice. Regarding treatment protocols, they would require specialized attention in dental management. Information was searched in the following databases: PubMed, SciELO, Redalyc, Elsevier, and the International Association of Paediatric Dentistry (IAPD). The descriptors used were: Pediatric Dentistry, Autism, ASD, Autism Spectrum Disorder, and Management of the autistic patient.

Classifying autism in a clinical population based on motion synchrony: a proof-of-concept study using real-life diagnostic interviews

Predictive modeling strategies are increasingly studied as a means to overcome clinical bottlenecks in the diagnostic classification of autism spectrum disorder. However, while some findings are promising in the light of diagnostic marker research, many of these approaches lack the scalability for adequate and effective translation to everyday clinical practice. In this study, our aim was to explore the use of objective computer vision video analysis of real-world autism diagnostic interviews in a clinical sample of children and young individuals in the transition to adulthood to predict diagnosis. Specifically, we trained a support vector machine learning model on interpersonal synchrony data recorded in Autism Diagnostic Observation Schedule (ADOS-2) interviews of patient-clinician dyads. Our model was able to classify dyads involving an autistic patient (n = 56) with a balanced accuracy of 63.4% against dyads including a patient with other psychiatric diagnoses (n = 38). Further analyses revealed no significant associations between our classification metrics with clinical ratings. We argue that, given the above-chance performance of our classifier in a highly heterogeneous sample both in age and diagnosis, with few adjustments this highly scalable approach presents a viable route for future diagnostic marker research in autism.

A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity

The landscape of autism spectrum disorder (ASD) in Lebanon is unique because of high rates of consanguinity, shared ancestry, and increased remote consanguinity. ASD prevalence in Lebanon is 1 in 68 with a male-to-female ratio of 2:1. This study aims to investigate the impact of an inherited deletion in UBLCP1 (Ubiquitin-Like Domain-Containing CTD Phosphatase 1) on the ubiquitin-proteasome system (UPS) and proteolysis. Whole exome sequencing in a Lebanese family with ASD without pathogenic copy number variations (CNVs) uncovered a deletion in UBLCP1. Functional evaluation of the identified variant is described in fibroblasts from the affected. The deletion in UBLCP1 exon 10 (g.158,710,261CAAAG > C) generates a premature stop codon interrupting the phosphatase domain and is predicted as pathogenic. It is absent from databases of normal variation worldwide and in Lebanon. Wild-type UBLCP1 is widely expressed in mouse brains. The mutation results in decreased UBLCP1 protein expression in patient-derived fibroblasts from the autistic patient compared to controls. The truncated UBLCP1 protein results in increased proteasome activity decreased ubiquitinated protein levels, and downregulation in expression of other proteasome subunits in samples from the affected compared to controls. Inhibition of the proteasome by using MG132 in proband cells reverses alterations in gene expression due to the restoration of protein levels of the common transcription factor, NRF1. Finally, treatment with gentamicin, which promotes premature termination codon read-through, restores UBLCP1 expression and function. Discovery of an ASD-linked mutation in UBLCP1 leading to overactivation of cell proteolysis is reported. This, in turn, leads to dysregulation of proteasome subunit transcript levels as a compensatory response.

Elucidating the Perspectives of Autistic Youth About Their Health Care Experiences: A Qualitative Study.

Autistic individuals have higher rates of co-occurring medical conditions and service use. However, autistic individuals and their families also reported lower satisfaction with health care service delivery. Previous studies described health care experiences of autistic adults, but less is known about those of autistic adolescents and young adults. This study aimed to qualitatively describe the health care experiences of autistic youth. Four longitudinal/serial focus groups were conducted with 8 autistic adolescents and young adults. Participants were members of an autistic patient advisory board, which is part of a broader initiative at a large, urban, safety-net hospital to improve the health care experiences of autistic patients. Focus groups were conducted virtually and were audio-recorded. Audio recordings were transcribed and verified for accuracy. Transcripts were consensus-coded with an inductive approach using tenets of grounded theory. Findings included 4 recurring themes: accessibility and accommodations, barriers of health service use, patient involvement in health care decisions, and facilitators of patient-clinician relationship. Participants noted that visit preparation, sensory items, and repeated positive interactions with clinician were helpful to build a positive health care experience. Our findings support previous research that suggest the need to individualize care, ensure availability of accommodations, apply flexibility in practice whenever possible, and increase health care professional knowledge about this unique patient population.

The Healthcare Experience of Autistic Patients in Orthopaedic Surgery and Closely Related Fields: A Scoping Review.

Orthopaedic and related care has the potential to present unique obstacles for patients with a range of autism manifestations. In this review, we aim to describe and analyze the literature on autistic patients' experience within orthopaedics and closely related fields. This literature search utilized the PubMed, Embase, and Cumulative Index to Nursing and Allied Health Literature databases. Three major concepts were built into the search terms: (1) patients on the autism spectrum; (2) patient experience; and (3) movement sciences, including orthopaedics, physical medicine and rehabilitation (PM&R), occupational therapy (OT), and physical therapy (PT). Our search yielded 35 topical publications, with the major topic areas addressed as follows: (1) clinical and perioperative management, (2) therapy interventions, (3) participation in exercise and social play, (4) sensory management and accommodations, (5) caregiver/parent training and involvement in care, (6) healthcare needs and barriers to care, and (7) utilization of technology. In the current literature, there are no studies that attempt to directly assess autistic patient experience with care practices and clinical environments in orthopaedics. Rigorous, direct examination of the experience of autistic patients within clinical orthopaedic settings is urgently needed to address this gap.

Pharmaceutical care in the health of Autistic Spectrum disorder

Autism Spectrum Disorder (ASD) is a series of neurological and behavioural complications that destabilize several characteristics of human development. Some patients require psychopharmacological treatment to control symptoms. When these drugs interfere negatively in quality of life, their use deserves special attention. The objective of this article was to verify the importance of the pharmaceutical professional in the monitoring of autistic children and adolescents in a group of autistics of the North of Minas Gerais Association of Support to the Autistic (ANDA). The pharmacotherapeutic profile was determined, and the incidence of medication-related problems was surveyed. For this, an anthropometric evaluation, blood glucose and cholesterol test and verification of adherence to treatment were performed. It was found that the monitoring of the autistic patient by the clinical pharmacist is of fundamental importance, focused on primary health care. The professional should monitor the appearance of dyslipidaemia and other metabolic disorders in autistic patients, especially those who use atypical antipsychotics and who have food selectivity, or motor dysfunction associated with autism.

Strategies, challenges and enabling factors when imaging autistic individuals in Swiss medical imaging departments

IntroductionAutistic individuals may require medical imaging but they can face barriers that are related to lack of adjustments in their care. This study aims to explore and understand strategies currently used by Swiss radiographers to image autistic patients and to propose recommendations for clinical practice. MethodsThe Swiss Ethics of the canton of Vaud committee approved the study. Data collection was gathered using a mixed method approach by an online survey and followed by selected interviews. Descriptive statistics and thematic analysis were used to analyse the data. ResultsA hundred completed responses to the survey were obtained and five individual interviews were conducted. Sixty participants reported having managed autistic patients. The main enablers identified were: the support from carers, adapting the behaviour of staff and customising communication. The main challenges were a lack of communication and the lack of knowledge about autism to appropriately manage the patient. Only five radiographers had received prior training in autism. ConclusionMedical imaging departments must develop protocols to overcome the lack of communication between services, radiographers, and autistic service users. The lack of radiographer knowledge about autism can impact autistic patient management, resulting in carers playing an important role during the examination. Customised education for radiographers about autism is needed. Implication for practiceThe development of a scheduling protocol for each imaging modality could improve communication with the patient. The organisation of the physical environment and the patient's preparation for the examination are critical to provide adequate imaging care. It is suggested that medical imaging professionals, autistic service users, and autism organisations collaborate to develop autism related guidelines for medical imaging examinations.

Generation of an induced pluripotent stem cell line (IPCASi001-A) from an autism spectrum disorder individual without intellectual disability

Autism spectrum disorder (ASD) is a highly inheritable neurodevelopmental disorder that causes diverse deficits in social communication and restricted repetitive sensorimotor behaviors. Here, we studied a human-induced pluripotent cell line from an autistic patient with impaired social function and a normal intelligence quotient (IQ > 70). The cell line was validated by its morphology, gene expression, and potential to differentiate into three germ layers. This model can be used to explore the pathophysiological and molecular mechanisms in patients with ASD, compared those of with patients with normal cognitive abilities.

Nasal foreign bodies incidentally detected on dental radiography.

Two nasal foreign bodies were discovered by a dental practitioner on a routine radiographic examination of a 15-year-old autistic patient. Going over past radiographs, one of the nasal foreign bodies was detected in a radiograph performed 2 years previously. No nasal complaints or other clues to the problem were apparent. The patient was referred to the emergency room, and the foreign bodies were removed by an Ear Nose and Throat specialist, under general anesthesia. This paper reviews the diagnosis and treatment of nasal foreign bodies, and highlights the important role of the dental practitioner in the proper detection and diagnosis, prompt referral for management, and reduction in related complications.

A novel multigranularity feature-selection method based on neighborhood mutual information and its application in autistic patient identification

The high dimensionality and small sample of functional magnetic resonance imaging (fMRI) data is the big challenge for machine learning application in identification of mental disorders from fMRI images. Feature selection provides an effective method to select the task related fMRI features and removing the redundant ones. The existing feature-selection methods improved the performance of machine learning model by selecting the discriminative features under the limitation of weak correlation among candidate features. However, the strong correlation among fMRI features and its actual influence on classification performance is less considered. Herein, a novel multigranularity feature-selection method was proposed, which considers both the feature’s discrimination and the correlation between features at the same time. Firstly, k-means clustering was used to divide fMRI samples into subgroup reducing the potential heterogeneity within subgroups. Second, a new weight proportional to features’ correlation and inversely proportional to the discrimination was used to create minimum spanning trees representing the fMRI feature space. Third, the impact of the correlation among features on the classification was further examined from optimistic and pessimistic perspectives with multigranularity information. The experimental results on fMRI data from ABIDE database show that our method not only reduced the feature redundancy but also is superior to a variety of competing feature-selection methods in autism spectrum disorder (ASD) recognition.

Community Knowledge about Autism Spectrum Disorder in the Kingdom of Saudi Arabia

Objectives: To explore the knowledge of the general community in Saudi Arabia about autism spectrum disorder. Method: A cross-sectional study was conducted for the period between June and September 2021 in Saudi Arabia using an online questionnaire tool. The questionnaire tool was developed based on a literature review. The questionnaire tool consists of 34 items that assess knowledge about autism spectrum disorder in terms of its etiology, autistic patient features, autistic children’s abilities and needs, and autistic adults’ abilities and needs. The total score for each subscale was used to define the level of knowledge of it. Correct answers were given a score of one, and the total score for each subscale was used to describe the level of knowledge of it. Logistic regression was used to identify predictors of good knowledge about autism spectrum disorder (defined as a total score equal or above the mean score of the study participants). Results: This study enlisted the participation of 500 people. The participants’ overall understanding of autism spectrum disorder was moderate, with a mean score of 20.6 (SD: 5.6) out of 34, or 60.6%. The participants’ knowledge levels ranged from 32.2% to 77.5%. The items about the abilities and needs of adolescents and young people with autism had the highest degree of knowledge (77.5%). The items about autism’s causes had the lowest level of expertise (32.2%). When compared to others, females, those with a master’s degree, and those working in the healthcare field had a higher likelihood of knowing more about the autism spectrum condition. (p ≤ 0.05). Conclusion: Knowledge about autism spectrum disorder in Saudi Arabia is moderate. Social media channels and healthcare centers should be used to conduct educational campaigns for parents. The goal of this educational campaign should be to improve parents’ ability to recognize the causes of autism.

Assessing and Managing Suicide Risk in Autistic Youth: Findings from a Clinician Survey in a Pediatric Psychiatric Emergency Setting.

Suicidal thoughts and behaviors (STB) and emergency department (ED) utilization are prevalent in autistic youth. The current study surveyed clinicians in a pediatric psychiatric ED to examine differences in attitudes on suicide-related care for autistic and non-autistic patient populations. While clinicians rated addressing STB in ASD as important and adaptations to care as necessary, less than half identified ASD as a suicide risk factor and confidence ratings were significantly lower for autistic patients. Previous ASD training predicted confidence and accounted for approximately 25% of the variance in confidence scores. Findings highlight the urgency to develop and disseminate ED clinician training, and address the lack of validated assessment tools, adapted suicide prevention practices, and evidence-based treatments for STB in autistic youth.

A systematic review of person-centred adjustments to facilitate magnetic resonance imaging for autistic patients without the use of sedation or anaesthesia.

Magnetic resonance imaging is widely used for different diagnostic examinations involving autistic patients. The noisy, narrow, isolating magnetic resonance imaging environment and long scan times may not be suitable for autistic individuals, given their communication challenges, sensory sensitivities and often heightened anxiety. This systematic review aims to reveal any reasonable and feasible radiography-based adjustments to facilitate magnetic resonance imaging scanning without the use of sedation or general anaesthesia. Nine electronic databases were systematically searched. Out of 4442 articles screened, 53 were deemed directly relevant; when assessed against eligibility criteria, only 21 were finally included in this systematic review. Customising communication was found to be a key adjustment, as well as scan-based optimisation and environmental adaptations. The importance of distraction techniques and use of technology for familiarisation with the processes was also highlighted. The results of this study can inform recommendations to improve magnetic resonance imaging practice and patient experience, without the use of sedation or anaesthesia, where feasible. They can also inform the basis of dedicated training for magnetic resonance imaging radiographers.Lay abstractAutistic patients often undergo magnetic resonance imaging examinations. Within this environment, it is usual to feel anxious and overwhelmed by noises, lights or other people. The narrow scanners, the loud noises and the long examination time can easily cause panic attacks. This review aims to identify any adaptations for autistic individuals to have a magnetic resonance imaging scan without sedation or anaesthesia. Out of 4442 articles screened, 53 more relevant were evaluated and 21 were finally included in this study. Customising communication, different techniques to improve the environment, using technology for familiarisation and distraction have been used in previous studies. The results of this study can be used to make suggestions on how to improve magnetic resonance imaging practice and the autistic patient experience. They can also be used to create training for the healthcare professionals using the magnetic resonance imaging scanners.

The new normal - dentistry and the autistic patient.

This article looks at some of the issues around providing and receiving dental care for autistic children and adults in the shadow of COVID-19 and suggests management approaches. COVID-19 represents yet another barrier to accessing dental care for some individuals with ASD.Dental professionals need to specifically ask families at recall about how the pandemic has,and continues to affect the individual concerned. Dental management may consequently need to be adapted to reflect this information.

Multidisciplinary therapies in the treatment of children with an autism spectrum disorder: a case report

Purpose: To describe multidisciplinary interventions aimed at treating a child diagnosed with an autism spectrum disorder. Case description: The mother sought medical help for her son who exhibited language delays. He was agitated, did not respond to calls, and exhibited a delay in speech development. For psychopharmacological treatment, risperidone 1 mg/mL associated with vitamin D, was prescribed. Multidisciplinary therapies were proposed and applied according to the patient’s needs. In sessions with a speech therapist, he responded to all stimuli, demonstrating good interest in the proposed activities and maintained good eye contact. He performed several circuits to improve posture, image, laterality, and body scheme. After participating in hippotherapy supervised by several professionals, the child exhibited an improvement in social interaction, motor performance, especially in posture practice, and in communication. After interposing equine-assisted therapy with intellectual clinic sessions, he started activities at an inclusive school. Discussion: Multidisciplinary interventions demonstrated effectiveness and continuous and positive evolution in the patient. Studies reporting multidisciplinary therapies are relevant for demonstrating the importance of this method and the adaptation to the reality of each autistic patient.

Neural correlates of RDoC-specific cognitive processes in a high-functional autistic patient: a statistically validated case report

The level of functioning of individuals with autism spectrum disorder (ASD) varies widely. To better understand the neurobiological mechanism associated with high-functioning ASD, we studied the rare case of a female patient with an exceptional professional career in the highly competitive academic field of Mathematics. According to the Research Domain Criteria (RDoC) approach, which proposes to describe the basic dimensions of functioning by integrating different levels of information, we conducted four fMRI experiments targeting the (1) social processes domain (Theory of mind (ToM) and face matching), (2) positive valence domain (reward processing), and (3) cognitive domain (N-back). Patient’s data were compared to data of 14 healthy controls (HC). Additionally, we assessed the subjective experience of our case during the experiments. The patient showed increased response times during face matching and achieved a higher total gain in the Reward task, whereas her performance in N-back and ToM was similar to HC. Her brain function differed mainly in the positive valence and cognitive domains. During reward processing, she showed reduced activity in a left-hemispheric frontal network and cortical midline structures but increased connectivity within this network. During the working memory task patients’ brain activity and connectivity in left-hemispheric temporo-frontal regions were elevated. In the ToM task, activity in posterior cingulate cortex and temporo-parietal junction was reduced. We suggest that the high level of functioning in our patient is rather related to the effects in brain connectivity than to local cortical information processing and that subjective report provides a fruitful framework for interpretation.

THE CONNECTION BETWEEN AUTISM SPECTRUM DISORDER AND THE SCN2A AND RENL GENES

<h3>Background</h3> The incidence of autistic spectrum disorder (ASD) is growing, but the pathophysiology and the etiology is still uncertain. This disorder is caused by genetic and environmental factors causality, with the SCN2A and RELN genes being the most prominent associated to ASD. Hence, this study aims to investigate the role of SCN2A and RELN genes at ASD phenotype expression. <h3>Methods</h3> Previously produced induced pluripotent stem cells (iPS) lineages from healthy donors (EA1, EB4), SCN2A gene knockout (EB4CRISPR) and autistic patient (iM5) with this mutation proceed to cerebral organoids and neurospheres generation. Following maturation, their immunofluorescence analysis were performed. For statistical assay were used One-way ANOVA test with Tukey‘s post-test for multiple comparisons. <h3>Results</h3> iM5 embryoid bodies didn't develop cerebral organoids, in contrast to EB4 and EA1. All NSCs were cell-type validated with Q-PCR, indicating higher iM5 differentiation. iM5 neurospheres had atypical morphology and smaller neuronal extensions when compared with others at immunofluorescence. Also, knockout clone kept migrating and growing more than iM5 one – this clone also had a mutation at genes like RELN. At last, iM5 cultivated with conditioned medium (50% neurospheres basal medium and 50% medium collected from other neurospheres) from knockout clone showed better growing and migration, compared with healthy cells conditioned or basal mediums iM5 cultures. <h3>Conclusion</h3> Normal migration of knockout clone when compared with impaired one from iM5, improoved with conditionated medium, indicates that SCN2A doesn't have a main role at neuronal migration and leads to hypothesys that RELN is related to neuronal migration and growth. More experiments are needed to confirm this results.

Care under general anesthesia of patients with autistic spectrum

Introduction: The dental treatment of an autistic patient is the most difficult and the patient's collaboration is often lacking. Objective: Thus, the objective of this report is to present a clinical case of a non-collaborating autistic patient in which it is the only viable option for carrying out treatment under general anesthesia in a hospital environment. Case report: Male patient, 24 years old, who was consulted for a dental appointment for the first time to assess the oral cavity. It was observed that there is a need for dental treatment and extractions. The patient was non-verbal, uncooperative and aggressive. Altered behavior control was indicated for general anesthesia for treatment dental care. Result: All dental treatment was performed with the patient under general anesthesia, including prophylaxis with prophylactic masses, a restoration and two extractions in the upper arch and one extraction in the lower arch. Conclusion: General anesthesia allows adult autistic patients not to cooperate to be considered effective and with quality.