SHANK Mutations May Disorder Brain Development

Poot, Martin

doi:10.1159/000368949

Cited by 2 publications

(6 citation statements)

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“…There are many forms of genetic syndromic ASD (Cederlöf et al 2014;Kern et al 2015;Plasschaert et al 2015;Poot 2015;Richards et al 2015). The fact that many different genetic syndromes do yield ASD diagnostic symptoms is the result of locus heterogeneity, wherein different gene variants produce the same phenotype, or the same phenotypic trait or symptom.…”

Section: Genetic Syndromic Asd Has Been Found With Varied Brain Impaimentioning

confidence: 99%

ASD Validity

Waterhouse

London

Gillberg

2016

Rev J Autism Dev Disord

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ASD research is at an important crossroads. The ASD diagnosis is important for assigning a child to early behavioral intervention and explaining a child's condition. But ASD research has not provided a diagnosis-specific medical treatment, or a consistent early predictor, or a unified life course. If the ASD diagnosis also lacks biological and construct validity, a shift away from studying ASD-defined samples would be warranted. Consequently, this paper reviews recent findings for the neurobiological validity of ASD, the construct validity of ASD diagnostic criteria, and the construct validity of ASD spectrum features. The findings reviewed indicate that the ASD diagnosis lacks biological and construct validity. The paper concludes with proposals for research going forward.Keywords DSM-5 . ASD . Autism . Diagnosis . Validity . Comorbidity . HeterogeneityThe goal of the DSM-3 nosology (American Psychiatric Association 1980) was to create reliable and standard categorical psychiatric diagnoses (Robins and Guze 1970). However, in the past 30 years, clinical, genetics, and neuroscience findings have revealed that the DSM diagnoses are not biologically valid. The National Institutes of Mental Health (NIMH) responded by proposing the Research Domain Criteria (RDoC) framework for a brain-based transdiagnostic psychiatric symptom nosology (Cuthbert and Insel 2013;Insel et al. 2010;Lilienfeld and Treadway 2016). Peterson (2015) and Weinberger et al. (2015) argued that the RDoC could not replace the DSM-5 psychiatric nosology (American Psychiatric Association 2013) or the parallel International Classification of Diseases (ICD) psychiatric nosology (World Health Organization 2012). But BFor the foreseeable future, RDoC is not envisioned as a system of psychiatric classification in its own right. Instead, in the near term, RDoC and DSM-ICD are expected to coexist. Nevertheless, RDoC is intended to provide scaffolding for a large-scale research program that will ultimately yield an alternative to DSM-ICD^ (Lilienfeld and Treadway 2016, p. 445).RDoC advocates accept that DSM-5/ICD psychiatric categories remain necessary in clinical practice, but argue that researchers should shift to RDoC study designs immediately. They assert that studying psychiatric categories lacking biological validity blocks the discovery of brain bases for psychopathology and thus cannot lead to effective medical treatments for specific psychiatric symptoms (Cuthbert and Insel 2013;Insel et al. 2010;Lilienfeld and Treadway 2016;Yee et al. 2015). Against this RDoC imperative for biological validity, Weinberger et al. (2015) countered that current DSM-5 psychiatric behavioral diagnoses were valid when they yielded effective medical treatment, clear prognosis, and a life course specific to a diagnosis.Autism spectrum disorder (ASD) research has been productive (Dawson 2016;de la Torre-Ubieta et al. 2016;Szatmari et al. 2016), but no ASD research findings have met the validity criteria of Weinberger et al. (2015). DSM-5 ASD research has found no s...

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Section: Genetic Syndromic Asd Has Been Found With Varied Brain Impaimentioning

confidence: 99%

ASD Validity

Waterhouse

London

Gillberg

2016

Rev J Autism Dev Disord

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“…This protein family as a result of the expression of the gene interacts with several glutamate receptors at the Post Synaptic Density (PSD) region, including the NMDA and AMP receptors 13 . On the other hand, deletion of both SHANK alleles reduces synaptic basal transmissions, which showed high hyperactivities, by up regulating ionotropic glutamate receptors at synapses in certain brain regions 12 . Synaptic proteins, in particular SH3 and SHANK3, are encoded by mutant genes, which causes changes in the number, size, shape, and strength of neural synapses 13,33 .…”

Section: Normal Parameters Evaluated Over Timementioning

confidence: 99%

“…Additionally, mutation in the SHANK family (SHANK1, SHANK2, and SHANK3) genes are also linked with syndromic and idiopathic autisms as a result of anxiety-like behavior in humans and other organisms 12,31 . In the human postsynaptic site at 22q13.3, SHANK proteins serve as the "master" scaffolding proteins 10 .…”

Section: Normal Parameters Evaluated Over Timementioning

confidence: 99%

“…It works by reducing RNA degradation caused by genes important in neurodevelopment in neuronal cells 27 . Additionally, on chromosome 21 at position 21q22.13 in the human body, the "tyrosine-(Y) phosphorylation-regulated kinase 1A" (DYRK1A) gene with dual specificity has also been identified as an ASD risk gene 12 . DYRK1A protein is essential for several aspects of postnatal brain development in autistic patients 12 .…”

Section: Normal Parameters Evaluated Over Timementioning

confidence: 99%

“…When it comes to neurological developmental issues, genes can be very essential. It has been discovered that a particular collection of genes, such as CHD8 9 , Multiple Ankyrin Repeat Domain Protein 3 (SHANK3) [10][11][12] , LPH3 38 , SLC6A3 36 , etc., are to blame for some specific situations, such as intellectual impairments, Autism, and ADHD. These genes are orthologous genes that may be found in various species, and they serve the same function in the human body in addition to many lower-class organisms including zebrafish, mice, and rats, among others.…”

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Untitled

2023

IJPSR

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A category of illnesses known as neurodevelopmental disorders is predominantly linked to neurodevelopmental dysfunctions. The two most prevalent neurodevelopmental disorders, "Attention Deficit/Hyperactivity Disorders (ADHD)" as well as"Autism Spectrum Disorders (ASD)", affect both humans and lower-class species like rats, mice and zebra fish. The purpose of this review is to identify the behavioral changes brought on by certain Neurodevelopmental disorders-Risk genes, such as CHD8, SHANK3, LPHN3, SLC6A3, etc., and to summarize their genetic screening and epidemiological researches, which directed various neurodevelopmental disorders in various organisms brought on by the interaction of genetic and environmental factors, as well as their genetic screening, which can be used to identify those diseases in humans by this orthologous gene that are present in humans. The majority of genes linked to neurodevelopment disorders were shown to have an excess of de novo mutations (DNMs), but case-control mutation burden research has not been able to prove their importance. We could identify the behavioral anomalies caused by these genes in different species for the development of neuropsychotic disorders by integrating the published scientific data. We have indeed been able to include the several genetic tests available to diagnose the diseases, as well as the various newly discovered genes that cause ADHD and ASD. INTRODUCTION:Neurodevelopmental disorders (NDD) are primarily linked to the brain's and nervous system's dysfunction [5][6][7][8] . Changes in communication, behavior, cognition and/or motor function during development characterize this group of illnesses. These are clinically and etiologically diverse disorders that are seen in infancy, childhood and adolescence as a sign of altered brain development.

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SHANK Mutations May Disorder Brain Development

Cited by 2 publications

References 25 publications

ASD Validity

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