Neurodevelopmental disorders

Thapar, Anita; Pine, Daniel S.; Leckman, James F.; Scott, Stephen; Snowling, Margaret J.; Taylor, Eric

doi:10.1002/9781118381953.ch3

Cited by 79 publications

(78 citation statements)

References 89 publications

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“…As 22q11.2 del typically presents with a wide range of psychiatric disorders, which may coexist or precede each other, classification of patients into different psychiatric subgroups is difficult. In DSM-5, specific learning disorders, motor disorders, communication disorders, ASD, ADHD, and ID are all placed in a neurodevelopmental cluster [41]. This group is heterogenic, and there is a number of differences between these disorders.…”

Section: Discussionmentioning

confidence: 99%

Complement Activation in 22q11.2 Deletion Syndrome

et al. 2020

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The 22q11.2 deletion syndrome (22q11.2 del), also known as DiGeorge syndrome, is a genetic disorder with an estimated incidence of 1:3000 to 1:6000 births. These patients may suffer from affection of many organ systems with cardiac malformations, immunodeficiency, hypoparathyroidism, autoimmunity, palate anomalies, and psychiatric disorders being the most frequent. The importance of the complement system in 22q11.2 del has not been investigated. The objective of this study was to evaluate the complement system in relation to clinical and immunological parameters in patients. A national cohort of patients (n = 69) with a proven heterozygous deletion of chromosome 22q11.2 and a group of age and sex matched controls (n = 56) were studied. Functional capacity of the classical, lectin, and alternative pathways of the complement system as well as complement activation products C3bc and terminal complement complex (TCC) were accessed and correlated to clinical features. All patients in our study had normal complement activation in both classical and alternative pathways. The frequency of mannose-binding lectin deficiency was comparable to the normal population. The patients had significantly raised plasma levels of C3bc and a slight, but not significant, increase in TCC compared with controls. This increase was associated with the presence of psychiatric disorders in patients. The present study shows no complement deficiencies in 22q11.2 deletion syndrome. On the contrary, there are signs of increased complement activation in these patients. Complement activation is particularly associated with the presence of psychiatric disorders.Journal of Clinical Immunology (2020) 40:515-523Publisher's Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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Section: Discussionmentioning

confidence: 99%

Complement Activation in 22q11.2 Deletion Syndrome

et al. 2020

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“…Multiple studies have highlighted the need for a crossdisorder approach in genetic studies as earlier research has shown the clinical and genetic overlap between different NDDs (Lee et al, 2013;Thapar et al, 2017). We used two different approaches, either clinical ASD diagnosis only or the umbrella category of NDD, to define the concordance and discordance of the twins for our analysis of shared CNVs.…”

Section: Discussionmentioning

confidence: 99%

“…NDDs are characterized by alterations in developmental trajectories causing impairments in personal, social, academic, and occupational functioning (American Psychiatric Association, 2013). There is substantial cooccurrence of different NDDs, suggesting a common etiology for the disorders (Thapar et al, 2017). NDDs have a strong genetic component, and the familial risk is seen between different NDDs and psychiatric disorders (Faraone et al, 2017;Ghirardi et al, 2017;Sullivan et al, 2012).…”

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confidence: 99%

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders

et al. 2018

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Hundreds of penetrant risk loci have been identified across different neurodevelopmental disorders (NDDs), and these often involve rare (<1% frequency) copy number variations (CNVs), which can involve one or more genes. Monozygotic (MZ) twin pairs are long thought to share 100% of their genomic information. However, genetic differences in the form of postzygotic somatic variants have been reported recently both in typically developing (TD) and in clinically discordant MZ pairs. We sought to investigate the contribution of rare CNVs in 100 twin pairs enriched for NDD phenotypes with a particular focus on postzygotic CNVs in MZ pairs discordant for autism spectrum disorder (ASD) using the Illumina Infinium PsychArray. In our sample, no postzygotic de novo CNVs were found in 55 MZ twin pairs, including the 13 pairs discordant for ASD. We did detect a higher rate of CNVs overlapping genes involved in disorders of the nervous system, such as a rare deletion affecting HNRNPU, in MZ pairs discordant and concordant for ASD in comparison with TD pairs (p = .02). Our results are in concordance with earlier findings that postzygotic de novo CNV events are typically rare in genomic DNA derived from saliva or blood, and suggests that the discordance of NDDs in our sample of twins is not explained by discordant CNVs. Still, studies investigating postzygotic variation in MZ discordant twins using DNA from different tissues and single cells and higher resolution genomics are needed in the future.

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“…ASD and Tourette's disorder are members of a neurodevelopmental class of disorders in the DSM‐5 (American Psychiatric Association, ) (we address ADHD, another member of this group, below). Neurodevelopmental disorders are characterized by childhood onset and cognitive or motor functional delays or impairments (Thapar, Cooper, & Rutter, ). ASD and Tourette's are highly comorbid, although the symptoms of ASD are pervasive over the lifecourse, the motor tics associated with Tourette's tend to subside in adulthood (Hallett, ).…”

Section: Developmental Disordersmentioning

confidence: 99%

Mental health is biological health: Why tackling “diseases of the mind” is an imperative for biological anthropology in the 21st century

Syme

Hagen

2019

American J Phys Anthropol

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The germ theory of disease and the attendant public health initiatives, including sanitation, vaccination, and antibiotic treatment, led to dramatic increases in global life expectancy. As the prevalence of infectious disease declines, mental disorders are emerging as major contributors to the global burden of disease. Scientists understand little about the etiology of mental disorders, however, and many of the most popular psychopharmacological treatments, such as antidepressants and antipsychotics, have only moderate-to-weak efficacy in treating symptoms and fail to target biological systems that correspond to discrete psychiatric syndromes. Consequently, despite dramatic increases in the treatment of some mental disorders, there has been no decrease in the prevalence of most mental disorders since accurate record keeping began. Many researchers and theorists are therefore endeavoring to rethink psychiatry from the ground-up. Anthropology, especially biological anthropology, can offer critical theoretical and empirical insights to combat mental illness globally. Biological anthropologists are unique in that we take a panhuman approach to human health and behavior and are trained to address each of Tinbergen's four levels of analysis as well as culture. The field is thus exceptionally well-situated to help resolve the mysteries of mental illness by integrating biological, evolutionary, and sociocultural perspectives. K E Y W O R D S evolutionary medicine, mental health, psychopathology

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Neurodevelopmental disorders

Cited by 79 publications

References 89 publications

Complement Activation in 22q11.2 Deletion Syndrome

Complement Activation in 22q11.2 Deletion Syndrome

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders

Mental health is biological health: Why tackling “diseases of the mind” is an imperative for biological anthropology in the 21st century

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