Differential diagnosis on the autism spectrum: Theorizing an “Ordinary Autism”

Frigaux, Antoine; Lighezzolo-Alnot, Joëlle; Maleval, Jean-Claude; Évrard, Renaud

doi:10.1016/j.evopsy.2021.01.003

Cited by 7 publications

(4 citation statements)

References 145 publications

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“…The purpose of this examination is to assess a child's ability to pronounce consonants and vowels. The third examination is the child's understanding ability and verbal disclosure to determine how the child expresses something he understands [9]. However, due to the Covid-19 pandemic, sufferers experience difficulties in carrying out therapy.…”

Section: Introductionmentioning

confidence: 99%

Utilization of Augmented Reality Technology in Independent Speech Therapy Applications

Wanti,

Somantri,

Kartiyani

2024

LKJITI

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One of the uses of information technology is augmented reality technology in the health sector. Augmented reality is used in the development of applications that are used for speech therapy for children with autism or children with speech delays. The method used for the development of speech therapy applications is the extreme programming method. This method can adapt to the development of an application in a short time and quite a lot of changes. The stages in the extreme programming method include identifying system requirements, planning activities during system/application development, system development process, iteration for system improvement until the final iteration, and no more user feedback, system/application production, and system maintenance with data backup and system recovery. After testing the system, it was concluded that three iterations occurred during the development of the speech therapy application. The last test showed that the user accepted the speech therapy application with a percentage of 77,14%. The output of this research is an augmented reality-based speech therapy application that is useful for independent speech therapy for children with speech delays.

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Section: Introductionmentioning

confidence: 99%

Utilization of Augmented Reality Technology in Independent Speech Therapy Applications

Wanti,

Somantri,

Kartiyani

2024

LKJITI

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“…Autism spectrum disorder (ASD) is a neurodevelopmental condition defined by functional impairments in social communication and interactions, restrictive interests, and repetitive behaviors (1). ASD is typically diagnosed in childhood by behavioral observation and clinical assessment (2), although early identification is not always accessible due to long wait lists for diagnostic services (3,4). Treatment options for ASD are limited, though intensive behavioral intervention beginning at an early age and following established guidelines has been associated with better outcomes (5,6).…”

Section: Introductionmentioning

confidence: 99%

Sex-specific DNA methylation signatures of autism spectrum disorder in newborn blood

Mouat,

Krigbaum,

Hakam

et al. 2024

Preprint

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Autism spectrum disorder(ASD)comprises a group of neurodevelopmental conditions currently diagnosed by behavioral assessment in childhood, with reported underdiagnosis in females. Though diagnosis in early life is linked to improved outcomes, we currently lack objective screening tools for newborns. To address this gap, we sought to identify a sex-specific DNA methylation signature for ASD using perinatal tissues that reflect dysregulation in the brain. DNA methylation was assayed from ASD and typically developing(TD)newborn blood, umbilical cord blood, placenta, and post-mortem cortex samples using whole genome bisulfite sequencing(WGBS)in a total of 511 samples. We found that methylation levels of differentially methylated regions(DMRs)differentiated samples by ASD diagnosis in females more than males across the perinatal tissues. We tested three theories for ASD sex differences in newborn blood, finding epigenetic support for an X chromosome-related female protective effect, as well as a high replication rate of DMRs (48.1%) in females across two independent cohorts. In our pan-tissue analysis, three genes (X-linkedBCOR,GALNT9,OPCML) mapped to ASD DMRs replicated in all four female tissues. ASD DMRs from all tissues were enriched for neuro-related processes (females) and SFARI ASD-risk genes (females and males). Overall, we found a highly replicated methylation signature of ASD in females across perinatal tissues that reflected dysregulation in the brain and involvement of X chromosome epigenetics. This comparative study of perinatal tissues shows the promise of newborn blood DNA methylation biomarkers for early detection of females at risk for ASD and emphasizes the importance of sex-stratification in ASD studies.

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“…Neurodevelopmental disorders, which include intellectual disability (ID), autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), demonstrate a high degree of symptomatic overlap. Additionally, within a particular diagnosis, children often demonstrate a high degree of heterogeneity in terms of symptoms, levels of functional impairment, and biomarker profiles [1][2][3][4][5][6] . Although specifiers were included in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) 7 which allow ASD and ADHD to be comorbid, they are still conceptualised as separate disorders using existing frameworks.…”

Section: Introductionmentioning

confidence: 99%

Multi-axial Profile Scores (MAPS) for Complex Child Psychiatric Presentations

Adams,

Tonge,

Pantelis

et al. 2023

Preprint

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Objective To test the utility of a novel machine-based learning technique, Multiaxial Profile Scores (MAPS), in verifying diagnostic grouping in a complex clinical sample of children with neurodevelopmental disorders and psychiatric co-morbidities whom had underdone gold standard assessment. The hypothesis was that all children would reach clinical threshold across a variety of symptoms domains and that MAPS would provide more individual specific information in diagnostic grouping and treatment planning than the screening tool. Methods Symptom screening information and cognitive testing was available for a sample of 78 children aged 6-12 from a tertiary mental health centre. MAP scores were created from routinely collected clinical and cognitive data and these provided an individual specific fingerprint which indicated similarities and differences from the rest of the sample across the diagnostic groups of ASD, ADHD and anxiety disorders. Results MAPS correctly verified diagnostic grouping in 67/78 cases. MAPS were more specific for appropriate Autism diagnoses than the screening tool, which produced false positives. MAPS also provided individual specific information that was useful in treatment planning. This is presented as 4 example case studies. Conclusions MAPS assists the clinician develop an individual comprehensive diagnostic formulation by integrating screening and assessment data to guide the best available treatment of children with complex neurodevelopmental disorders and psychiatric co-morbidity. MAPS may provide a useful individualised addition to screening tools where gold standard assessment services are inaccessible or impractical.

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Differential diagnosis on the autism spectrum: Theorizing an “Ordinary Autism”

Cited by 7 publications

References 145 publications

Utilization of Augmented Reality Technology in Independent Speech Therapy Applications

Utilization of Augmented Reality Technology in Independent Speech Therapy Applications

Sex-specific DNA methylation signatures of autism spectrum disorder in newborn blood

Multi-axial Profile Scores (MAPS) for Complex Child Psychiatric Presentations

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