Differential diagnosis of autism spectrum disorder, intellectual disability and attention-deficit hyperactivity disorder (ADHD)

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Michelle Heyman ◽  
Megan Ledoux Galligan ◽  
Giselle Berenice Salinas ◽  
Elizabeth Baker ◽  
Jan Blacher ◽  
...  

Purpose Professionals working with community populations are often presented with complicated cases where it is difficult to determine which diagnosis or diagnoses are appropriate. Differentiating among neurodevelopmental disorders such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder and intellectual disability can be a complex process, especially, as these disorders have some overlapping symptoms and often co-occur in young children. This series of case studies aims to present commonly overlapping symptoms in children who present to clinics with developmental concerns. Design/methodology/approach This paper presents three case studies that were completed at a free community ASD screening clinic in Southern California. Findings The case studies have common presenting behaviors and symptoms (e.g. social communication difficulties) that often co-occur across diagnoses; explanations for the final diagnoses are given in each case. Research limitations/implications Conclusions from these three cases cannot generalize to all children being seen in clinics for neurodevelopmental concerns. Practical implications This series of case studies highlights commonly overlapping symptoms in children who present for differential diagnosis with social and/or behavioral concerns. Implications for educational placement and intervention are discussed. Social implications These cases highlight the challenges involved in the differential and dual diagnostic process for young children with developmental concerns. Diagnostic considerations can affect later educational placement and opportunities for socialization. Originality/value This series of case studies provide practical information for clinicians about how to effectively differentiate between commonly occurring neurodevelopmental disorders, particularly given recent changes to the Diagnostic and Statistical Manual, 5th edition (DSM-5).

2017 ◽  
Vol 1 (1) ◽  
pp. 13
Author(s):  
Turki Homod Albatti

The new Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) has a number of changes to what used to be disorders first diagnosed in childhood or infancy. This lecture outlines some of the major changes to these   conditions. According to the American Psychiatric Association (APA), the publisher of the DSM-5, this chapter from the DSM-IV has been superseded by a new chapter entitled, ‘Neurodevelopmental Disorders’ The new chapter includes intellectual  disability (Intellectual Developmental Disorder), communication disorders, autism spectrum disorder, attention deficit hyperactivity disorder, Specific learning disorder and motor disorders. The Neurodevelopmental Disorders section replaces the   outmoded term mental retardation with intellectual disability (intellectual developmental disorder) and defines levels of severity based on adaptive functioning and not IQ scores. Attention-deficit hyperactivity disorder (ADHD) is newly placed in the Neurodevelopmental Disorders section in DSM-5, whereas it was classified with disruptive behavior disorders in DSMIV. The biggest change in the Neurodevelopmental Disorders section in DSM-5 is the creation of a new category, Autism Spectrum Disorder, along with the elimination of the DSMIV diagnostic  category Pervasive Developmental Disorder and its subgroupings. ASD is characterized by deficits in two core domains instead of three as in DSMIV. other changes will be explain.


Author(s):  
Shuyun Chen ◽  
Sixian Zhao ◽  
Christina Dalman ◽  
Håkan Karlsson ◽  
Renee Gardner

Abstract Background Maternal diabetes has been associated with a risk of neurodevelopmental disorders (NDDs) in offspring, though the common co-occurrence of autism spectrum disorders (ASD), attention-deficit/hyperactivity disorder (ADHD) and intellectual disability (ID) is rarely considered, nor is the potential for confounding by shared familial factors (e.g. genetics). Methods This population-based cohort study used data from Psychiatry Sweden, a linkage of Swedish national registers, to follow 2 369 680 individuals born from 1987 to 2010. We used population-averaged logit models to examine the association between exposure to maternal type 1 diabetes mellitus (T1DM), pre-gestational type 2 diabetes mellitus (T2DM) or gestational diabetes mellitus (GDM), and odds of NDDs in offspring. Subgroup analysis was then performed to investigate the timings of GDM diagnosis during pregnancy and its effect on the odds of NDDs in offspring. We compared these results to models considering paternal lifetime T1DM and T2DM as exposures. Results Overall, 45 678 individuals (1.93%) were diagnosed with ASD, 20 823 (0.88%) with ID and 102 018 (4.31%) with ADHD. All types of maternal diabetes were associated with odds of NDDs, with T2DM most strongly associated with any diagnosis of ASD (odds ratioadjusted 1.37, 95% confidence interval 1.03–1.84), ID (2.09, 1.53–2.87) and ADHD (1.43, 1.16–1.77). Considering common co-morbid groups, the associations were strongest between maternal diabetes and diagnostic combinations that included ID. Paternal T1DM and T2DM diagnoses were also associated with offspring NDDs, but these associations were weaker than those with maternal diabetes. Diagnosis of GDM between 27 and 30 weeks of gestation was generally associated with the greatest risk of NDDs in offspring, with the strongest associations for outcomes that included ID. Conclusion The association of maternal diabetes with NDDs in offspring varies depending on the co-morbid presentation of the NDDs, with the greatest odds associated with outcomes that included ID. Results of paternal-comparison studies suggest that the above associations are likely to be partly confounded by shared familial factors, such as genetic liability.


F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 599 ◽  
Author(s):  
Pietro Chiurazzi ◽  
Filomena Pirozzi

Intellectual disability is the most common developmental disorder characterized by a congenital limitation in intellectual functioning and adaptive behavior. It often co-occurs with other mental conditions like attention deficit/hyperactivity disorder and autism spectrum disorder, and can be part of a malformation syndrome that affects other organs. Considering the heterogeneity of its causes (environmental and genetic), its frequency worldwide varies greatly. This review focuses on known genes underlying (syndromic and non-syndromic) intellectual disability, it provides a succinct analysis of their Gene Ontology, and it suggests the use of transcriptional profiling for the prioritization of candidate genes.


2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Ghorban Hemati Alamdarloo ◽  
Farzad Majidi

Purpose Most parents experience stress when their children are diagnosed with some kind of disability. This paper aims to compare the level of stress among mothers of children with neurodevelopmental disorders. Design/methodology/approach Research sample consisted of 150 mothers of children with neurodevelopmental disorders (50 mothers of children with autism spectrum disorder, 50 mothers of children with intellectual disability and 50 mothers of children with specific learning disorder selected by convenience sampling). The Stress Response Inventory was used for measuring stress. One-way analysis of variance, multivariate analysis of variance and Scheffe post hoc tests were used for data analysis. Findings The results showed that the stress of mothers of children with autism spectrum disorder was significantly higher than to the other groups of mothers. It was also observed that the stress of mothers of children with intellectual disability was significantly higher than the mothers of children with the specific learning disorder. Originality/value Therefore, designing and implementing preventive and interventional programs to decrease the stress of mothers of children with neurodevelopmental disorders, especially mothers of children with autism spectrum disorder is necessary.


2020 ◽  
Author(s):  
Holly K. Harris ◽  
Tojo Nakayama ◽  
Jenny Lai ◽  
Boxun Zhao ◽  
Nikoleta Argyrou ◽  
...  

Purpose: We describe a novel neurobehavioral syndrome of autism spectrum disorder, intellectual disability, and attention deficit/hyperactivity disorder associated with de novo or inherited deleterious variants in members of the RFX family of genes. RFX genes are evolutionarily conserved transcription factors that act as master regulators of central nervous system development and ciliogenesis. Methods: We assembled a cohort of 36 individuals (from 31 unrelated families) with de novo mutations in RFX3, RFX4, and RFX7. We describe their common clinical phenotypes and present bioinformatic analyses of expression patterns and downstream targets of these genes as they relate to other neurodevelopmental risk genes. Results: These individuals share neurobehavioral features including autism spectrum disorder (ASD), intellectual disability, and attention-deficit/hyperactivity disorder (ADHD); other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. Conclusion: These results establish deleterious variation in RFX3, RFX4, and RFX7 as important causes of monogenic intellectual disability, ADHD and ASD, and position these genes as potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis.


Autism ◽  
2016 ◽  
Vol 21 (5) ◽  
pp. 622-634 ◽  
Author(s):  
Allison B Ratto ◽  
Bruno J Anthony ◽  
Cara Pugliese ◽  
Rocio Mendez ◽  
Jonathan Safer-Lichtenstein ◽  
...  

Low-income and ethnic minority families continue to face critical disparities in access to diagnostic and treatment services for neurodevelopmental conditions, such as autism spectrum disorder and attention deficit hyperactivity disorder. Despite the growing cultural diversity of the United States, ethnic minority children and families continue to be substantially underrepresented across research on neurodevelopmental disorders, and there is a particularly concerning lack of research on the treatment of these conditions in low-income and ethnic minority communities. Of note, there are currently no published studies on adapting autism spectrum disorder treatment for low-income Latino communities and relatively few studies documenting adapted treatments for children with attention deficit hyperactivity disorder in these communities. This article describes methodological considerations and adaptations made to research procedures using a Diffusion of Innovation framework in order to effectively recruit and engage low-income, ethnic minority, particularly Latino, families of children with neurodevelopmental disorders, in a comparative effectiveness trial of two school-based interventions for executive dysfunction.


2020 ◽  
Author(s):  
Samantha Schulz ◽  
Kara Elise Hannah

Sensorimotor gating issues have been commonly reported in a number of neurodevelopmental disorders including autism spectrum disorder, attention-deficit/hyperactivity disorder, childhood-onset fluency disorder, and tic disorders. This review aims to explore the current understanding of sensorimotor gaiting in neurodevelopmental disorders as a possible transdiagnostic mechanism. We will apply methods according to the Joanna Briggs Institute Manual for Evidence Synthesis. We will follow the population, concept, and context scoping review eligibility criteria. Our population of interest includes individuals with neurodevelopmental disorders such as autism spectrum disorder, attention-deficit/hyperactivity disorder, childhood onset fluency disorder, and tic disorders as well as individuals from the general population who display traits associated with the disorders of interest. The concept of interest is sensorimotor gating defined as the automatic process of filtering out redundant or unnecessary sensory stimuli from environment. Finally, the context of this review is limited to human studies. Using a comprehensive search strategy in five relevant research databases (Medline, EMBASE, CINAHL, PsychInfo, and Scopus), we will search for relevant primary research articles and reviews that have been peer reviewed. Two independent reviewers will screen the titles and abstracts, full texts, and complete data extraction. Descriptive analyses will be used to summarize the characteristics and outcomes of all identified studies.


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