Autism spectrum sex chromosome disorders. Medical search. Frequent questions

His main interest is in normal brain development, and how abnormalities in this process lead to neurodevelopmental/neuropsychiatric disorders. (kcl.ac.uk)
Risk vs protective mechanisms underpinning the emergence of a variety of neurodevelopmental disorders including autism, ADHD, epilepsy and psychosis. (kcl.ac.uk)
The Institute for Translational Neurodevelopment was launched in 2013 and carries out multidisciplinary 'translational' studies of normal development, and how abnormalities in that process lead to high cost neurodevelopmental disorders. (kcl.ac.uk)
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders that includes autism, Asperger's syndrome and pervasive developmental disorder not otherwise specified and is characterized by restricted repetitive behaviour, delays in language development and lack of reciprocal social communication and interaction 1 . (nature.com)
Part I covers basic genetic concepts and recurring biological themes, and begins the discussion of movement disorders and neurodevelopmental disorders, leading the way for Part II to cover a combination of neurological, neuromuscular, cerebrovascular, and psychiatric disorders. (elsevier.com)
Genetic variants contribute to risk for neurodevelopmental disorders, many of which show sex differences in their prevalence or presentation. (wisc.edu)
The aim of my research is to understand the key neurobiological mechanisms involved in the etiology of ASD and other neurodevelopmental disorders, including genetic and developmental processes, with a focus on the role of sex-differential biology in modulating risk. (wisc.edu)
Analyzing the X chromosomes of more people with autism or other neurodevelopmental conditions could help "identify additional risk genes," Willsey says. (spectrumnews.org)
As more is uncovered, it may shed some light on the mechanism of male genetic vulnerability to neurodevelopmental disorders, and specifically on the overlapping risk of these disorders, which commonly occur together in patients, especially males. (spectrumnews.org)
ASD have been classified as neurodevelopmental disorders, implying irreversible defects in the maturation of neural circuits. (ist.ac.at)
Autism Spectrum Disorders Autism spectrum disorders are neurodevelopmental disorders characterized by impaired social interaction and communication, repetitive and stereotyped patterns of behavior, and uneven intellectual. (msdmanuals.com)
Autism spectrum disorders (ASDs) represent a neurodevelopmental continuum with varying degrees of social impairment, communication limitations, repetitive behaviors, and/or a restricted range of interests. (arupconsult.com)
A 2019 meta-analysis asserts that WES has a higher diagnostic yield than CMA and should be a first-line test for neurodevelopmental disorders. (arupconsult.com)
Investigating sex chromosome trisomies (SCTs) may help in understanding neurodevelopmental pathways underlying the risk for neurobehavioral problems and psychopathology. (bioscientifica.com)
Reading disability (RD) and language impairment (LI) are common neurodevelopmental disorders with moderately strong genetic components and lifelong implications. (springer.com)

Sex chromosome aneuploidy (SCA) increases risk for several psychiatric disorders associated with the limbic system, including mood and autism spectrum disorders. (ox.ac.uk)
Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. (genome.gov)
In humans, aneuploidy would be any number of chromosomes other than the usual 46. (genome.gov)
Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). (biomedcentral.com)
Here, we seek to advance this general analytic framework by developing new methods in application to XYY syndrome-a sex chromosome aneuploidy that is known to increase risk for psychopathology. (biomedcentral.com)
The broad range of outcomes within aneuploidy and CNV disorders poses complex questions regarding the sources of phenotypic variation, and also frustrates personalized medicine approaches by making it difficult to predict outcomes in new cases. (biomedcentral.com)
Aneuploidy of other chromosomes can occur, but is usually associated with an early miscarriage. (healthchecks360.com)

XYYYY syndrome, also known as 49,XYYYY, is an exceptionally rare chromosomal disorder in which a male human has three additional copies of the Y chromosome. (wikipedia.org)
In the past, examination of the karyotype revealed a constriction at the end of the long arm of the X chromosome, followed by a thin strand of genetic material, which was why the syndrome was considered a chromosomal abnormality. (msdmanuals.com)
However, this structural defect does not appear when modern cytogenetic techniques are used, and this is the reason why Fragile X syndrome is now considered a single-gene disorder and not a chromosomal abnormality. (msdmanuals.com)
The Focus Foundation: The Focus Foundation, a not-for-profit organization that was founded in 2005 by Dr. Carole Samango-Sprouse, is the first and only research-based agency dedicated to identifying and helping children who have X & Y Chromosomal Variations, rare genetic disorders, Dyslexia, and/or Developmental Dyspraxia. (ndcforchildren.com)
Chromosomal microarray (CMA) is the recommended first-tier diagnostic test for patients with developmental delay (DD), intellectual disability (ID), or autism spectrum disorders (ASDs) of unknown etiology. (arupconsult.com)
Additionally, they support the possibility that sex biases result from sex chromosomal effects, although supporting evidence is currently limited [ 10 ]. (nature.com)
Mosaic) aneuploidies and chromosomal rearrangements are a frequent cause of idiopathic MCA/MR. Starting in 1959 with the identification of trisomy-21 as the genetic basis of Down syndrome [ 10 ], microscopic observation of metaphase chromosomes has for several decades been the method of choice for detecting chromosome abnormalities in MCA/MR patients. (biomedcentral.com)

XYYYY syndrome is associated with developmental and skeletal anomalies that are also observed in other sex chromosome aneuploidies. (wikipedia.org)
Sex chromosome aneuploidies David Skuse, Frida Printzlau and Jeanne Wolstencroft 25. (elsevier.com)
Disorders of gene dosage, ranging from aneuploidies to copy number variations (CNVs), are increasingly recognized as high-impact genetic risk factors for neuropsychiatric disease [ 1 ]. (biomedcentral.com)
NIPT also offers optional testing for other genetic conditions such as deletion syndromes and sex chromosome aneuploidies. (healthchecks360.com)
The test is primarily used to detect aneuploidies - where an abnormal number of chromosomes is present in each cell - specifically the trisomies that cause Down's(21), Edwards'(18) and Patau's(13) syndromes. (healthchecks360.com)

Autism and attention-deficit hyperactivity disorder are both thought to be associated with the syndrome. (wikipedia.org)
Rare gene variants a boy inherits from his mother's X chromosome can increase his chances of having autism, Tourette syndrome or attention-deficit/hyperactivity disorder (ADHD), a new study finds. (spectrumnews.org)
Attention deficit hyperactivity disorder (ADHD) was the most frequent disorder in children (37.10%) and was overrepresented in males. (nih.gov)
We analyzed a range of cognitive and behavioral domains in XYY probands and their non-carrier family members ( n = 58 families), including general cognitive ability (FSIQ), as well as continuous measures of traits related to autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). (biomedcentral.com)
This review summarizes the results from the TRIXY Early Childhood Study, focusing on early behavioral symptoms in areas of autism spectrum disorder, attention-deficit hyperactivity disorder, and communication disorders, and underlying neurocognitive mechanisms in domains of language, emotion regulation, executive functioning, and social cognition. (bioscientifica.com)
The incidence of autism, like that of learning disabilities, attention deficit hyperactivity disorder (ADHD), asthma, diabetes, arthritis, chronic fatigue syndrome, inflammatory bowel disease and other autoimmune and neurological disorders, has risen dramatically in the U.S. and other technologically advanced countries, while high vaccination rates have caused the incidence of childhood infectious diseases to fall just as dramatically in these countries. (nvic.org)
People often deal with some types of behavioral issues, such as ADHD or attention-deficit/hyperactivity disorder. (breakingnews21.com)

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. (duke.edu)
A partial duplication in the ASMT gene, located in the pseudoautosomal region 1 (PAR1) of the sex chromosomes and previously suggested to be involved in ASD susceptibility, was observed in 6-7% of the cases but in only 2% of controls (P = 0.003). (biomedcentral.com)
Microdeletion of a region in chromosome 16p11.2 increases susceptibility to autism. (eur.nl)
Although sex hormones play a key role in sex differences in susceptibility, severity, outcomes, and response to therapy of different diseases, sex chromosomes are also increasingly recognized as an important factor. (biomedcentral.com)

Cross-species analysis of autosomal gene expression across 12 tissues identified over 2,700 gene-tissue pairs with conserved sex-biased gene expression. (biomedcentral.com)

Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. (elsevier.com)
Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is evolving rapidly and expected to grow in scope as more disorders are linked to specific genetic markers. (elsevier.com)
CNVs varied from involvement of over 100 genes to single exons and explained X-linked, autosomal dominant, or - recessive disorders, the latter due to either a homozygous CNV or a compound heterozygous CNV with a sequence variant on the other allele. (cdc.gov)
A study shows that rare copy number variants and common variants across 16p that contribute to autism risk functionally converge to downregulate the expression of a large group of neuronally expressed genes in the 16p subtelomeric region. (cdc.gov)
Prader-Willi syndrome (PWS) is a disorder caused by a deletion or disruption of genes in the proximal arm of chromosome 15 or by maternal disomy in the proximal arm of chromosome 15. (medscape.com)
In such disorders, genes are expressed differentially based on the parent of origin. (medscape.com)
In the second keynote address, David Page (Whitehead Institute) investigated overlapping sets of genes retained on sex chromosomes over the course of evolution from autosomes (see Fig. 1 ). (biomedcentral.com)
Interestingly, human X chromosome and its bird counterpart Z chromosome retain a much higher number of autosomal genes than the Y and W chromosomes in humans and birds, respectively. (biomedcentral.com)
developmental language disorders are genetic and is therefore caused (at least in part) by the genes passed on from parents to children. (brookes.ac.uk)
Although there is strong evidence for the role of a genetic component in language disorder, we do not know which genes contribute to this disorder or how the inheritance of language problems work. (brookes.ac.uk)
In most cases, it is likely that several genes combine to bring about a heightened risk of disorder. (brookes.ac.uk)
Y chromosome harbors male‑specific genes, which either solely or in cooperation with their X-counterpart, and independent or in conjunction with sex hormones have a considerable impact on basic physiology and disease mechanisms in most or all tissues development. (biomedcentral.com)
Furthermore, loss of Y chromosome and/or aberrant expression of Y chromosome genes cause sex differences in disease mechanisms. (biomedcentral.com)
In this review, the involvement of Y chromosome genes in male-specific diseases such as prostate cancer and the cases that are more prevalent in men, such as cardiovascular disease, neurological disease, and cancers, has been highlighted. (biomedcentral.com)
X-degenerate sequences are single copy and broadly expressed genes which were evolved from ancestral autosomes to generate sex chromosomes. (biomedcentral.com)
Their X homologs excessively escape X chromosome inactivation, thus researchers classified them as dose-sensitive and haplolethal genes. (biomedcentral.com)
The role of MSY genes in important cellular processes such as transcription regulation, translation, and protein stability in males is vital not only in sex determination but also in sex-dependent organ development [ 3 ]. (biomedcentral.com)
Chromosome aberrations can affect one or more genes in a complex manner, such as by changing the regulation of gene expression, by disrupting exons, and by creating fusion genes. (biomedcentral.com)

XYY syndrome XYYY syndrome While some writers suggest intellectual disability is moderate to severe, this has not been recorded in any descriptions of the disorder. (wikipedia.org)
Fragile X syndrome is a genetic abnormality on the X chromosome that leads to intellectual disability and behavioral disorders. (msdmanuals.com)
Martin and Bell [ 4 ] reported the first documented pedigree of sex linked mental retardation (intellectual disability). (omicsonline.org)
Multiple groups have made recommendations regarding additional testing for fragile X syndrome (FXS), inborn errors of metabolism (IEMs), X-linked intellectual disability, MECP2 -related disorders, PTEN -related disorders, and/or chromosome analysis, depending on clinical findings and family history. (arupconsult.com)
Refer to the Testing for Genetic Syndromes Related to Developmental Delay, Intellectual Disability, and Autism Spectrum Disorder Algorithm for suggested tiered testing approaches. (arupconsult.com)
Which genetic test provides the highest diagnostic yield for developmental delay, intellectual disability, and autism spectrum disorders of unknown cause? (arupconsult.com)
Refer to the Testing for Genetic Syndromes Related to Developmental Delay, Intellectual Disability, and Autism Spectrum Disorder Algorithm for more information. (arupconsult.com)
8] Even when poor academic performance is recognized, it may take expert assessment to distinguish mild intellectual disability from specific learning disability or emotional/behavioral disorders. (nursing-assignments.com)

After adjustment for sex-differences in brain size, karyotypically normal males (XY) and females (XX) did not differ in volume or shape of either structure. (ox.ac.uk)
Neural Transcriptomic Analysis of Sex Differences in Autism Spectrum Disorder: Current Insights and Future Directions. (wisc.edu)
Pena G, Michalski C, Donnelly RJ, Qin Y, Sifri ZC, Mosenthal AC, Livingston DH, Spolarics Z. Trauma-Induced Acute X Chromosome Skewing in White Blood Cells Represents an Immuno-Modulatory Mechanism Unique to Females and a Likely Contributor to Sex-Based Outcome Differences. (umassmed.edu)
Direct being the direct result of differences prescribed by the Y-chromosome, and indirect being a characteristic influenced indirectly (e.g. hormonally) by the Y-chromosome. (en-academic.com)
Direct sex differences follow a binary distribution . (en-academic.com)
The complimentary result for the X-chromosome follows, either a double or a single X. Therefore, direct sex differences are usually binary in expression (although the deviations in complex biological processes produce a menagerie of exceptions). (en-academic.com)
Indirect sex differences are general differences in class, as quantified by empirical data and statistical analysis. (en-academic.com)
These gonadal hormones are produced by the hypothalamic-pituitary-gonadal (HPG) axis and have been shown to determine sex differences in adult HPA function after acute stress via their activational and organizational effects. (nature.com)
Moreover, questions remain regarding sex differences in the activity of the HPA axis following chronic stress and the underlying contributions of gonadal hormones and sex chromosomes. (nature.com)
The present review examines what is currently known about sex differences in the neuroendocrine response to stress, as well as outstanding questions regarding this sex bias. (nature.com)
Although it primarily focuses on the rodent literature, a brief discussion of sex differences in the human HPA axis is also included. (nature.com)
Strikingly, women are at twice the risk of men for developing many of these diseases, likely due to sex differences in the function and regulation of the HPA axis [ 5 ]. (nature.com)
Thus, understanding the nature and causes of such sex differences in the HPA axis following stress has important implications for understanding sex-biased risk for disease. (nature.com)
Much of what is known about sex differences in the stress-induced activity of the HPA axis and their underlying mechanisms comes from studies done in rodents. (nature.com)
The present review accordingly focuses on advances revealed from rodent studies in our understanding of sex differences in the stress-induced activity of the HPA axis in adulthood. (nature.com)
We conclude with a brief discussion of sex differences in the human HPA axis with the caveat that they are less pronounced than in rodents and are largely dependent on the stress modality. (nature.com)
Sex differences at the genetic/epigenetic level in early development. (ubc.ca)

Of these 23 pairs of chromosomes, 22 are autosomes, and one is a sex chromosome. (en-academic.com)

About 95% of the Y chromosome is composed of the male-specific region of the Y chromosome (MSY), and the other 5% is two pseudoautosomal regions (PAR1 and PAR2) in two ends of this chromosome (Fig. 1 ). (biomedcentral.com)

Recurrent pathogenic gene dosage disorders have been associated with increases in risk for several neuropsychiatric phenotypes, including autism spectrum disorder (ASD), bipolar disorder, and schizophrenia [ 2 ]. (biomedcentral.com)

Genetics of autism spectrum disorder Daniel Geschwind22. (elsevier.com)
The exact cause of autism is not entirely known, although genetics clearly plays an important role. (genome.gov)
The genetics underlying the autism spectrum disorders (ASDs) is complex and remains poorly understood. (duke.edu)

One particularly striking example is autism spectrum disorder (ASD): Males are diagnosed with ASD at least three times more frequently than females, and this skew is one of the most consistent, yet mechanistically unexplained, features of ASD. (wisc.edu)
Males did not predominate in psychotic or autism spectrum disorders. (nih.gov)
Females with the disorder are typically less impaired than males. (msdmanuals.com)
Fragile X syndrome is a genetic disorder that affects both males and females but males are more severely affected than females. (omicsonline.org)
Fragile X syndrome is a genetic disorder that affects both males and females but males are more severely affected compared to females. (omicsonline.org)
Later in 1969, Lubs [ 5 ] revealed a fragile site on the long arm of the X chromosome in males and some females of the same family . (omicsonline.org)
Then, non endocrinological macro-orchidism has been linked to the disorder in the affected males of some families [ 6 , 7 ]. (omicsonline.org)
A sex difference is a distinction of biological and/or physiological characteristics associated with either males or females of a species. (en-academic.com)
There are two kinds of sex chromosomes- "X" and "Y" . In humans and in almost all other mammals, females carry two X chromosomes, designated XX, and males carry one X and one Y, designated XY. (en-academic.com)
for example, autism is four times more prevalent in males than females [ 7 ]. (biomedcentral.com)

Linking statewide health and education data is an effective way for states to have actionable local autism spectrum disorder (ASD) prevalence estimates when resources are limited. (cdc.gov)
Additionally, the sex-biased prevalence of many psychiatric disorders could potentially reflect sex chromosome dosage effects on brain development. (ox.ac.uk)

Genetic methodologies are having a significant impact on the study of neurological and psychiatric disorders. (elsevier.com)
This advance helps us to understand genetic mechanisms underlying male vulnerability to autism spectrum disorder, Tourette syndrome and ADHD," says study lead investigator Jeremy Willsey , associate professor of psychiatry and behavioral sciences and co-director of the Psychiatric Cell Map Initiative at the University of California, San Francisco. (spectrumnews.org)
Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. (nih.gov)
The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome. (nih.gov)
The 1,402 participants with 22q11.2 deletion syndrome, ages 6-68 years, were assessed for psychiatric disorders with validated diagnostic instruments. (nih.gov)
ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls. (biomedcentral.com)

Though other Y-chromosome polysomy disorders are associated with tall stature, this does not appear to be true in XYYYY syndrome, with recorded heights ranging from the 10th to 97th percentile. (wikipedia.org)
47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of an individual's cells. (medlineplus.gov)
Most individuals with 47,XYY syndrome have normal production of the male sex hormone testosterone and normal male sexual development, and they are usually able to father children. (medlineplus.gov)
Some people with 47,XYY syndrome have an extra Y chromosome in only some of their cells. (medlineplus.gov)
Although he did not meet diagnostic criteria for septooptic dysplasia, the findings may likely represent a congenital syndrome within the broad spectrum of septooptic dysplasia. (hindawi.com)
Autism, Tourette syndrome and ADHD appear significantly more often in boys , even after potential diagnostic biases are taken into account. (spectrumnews.org)
Previous attempts to find gene variants on the X chromosome that are associated with autism, Tourette syndrome and ADHD in idiopathic cases - in which there is no known genetic cause - proved fruitless, however, perhaps in part because those efforts didn't analyze enough people to detect such variants. (spectrumnews.org)
When the researchers analyzed exome data from 570 boys and men with Tourette syndrome and 332 boys and men with ADHD, they found even stronger effects than those seen in people with autism. (spectrumnews.org)
Those with Tourette syndrome were 2.1 times more likely to have rare damaging variants on their X chromosomes than controls, whereas those with ADHD were 2.5 times more likely. (spectrumnews.org)
The symptoms of Fragile X syndrome are caused by an abnormality of the FMR1 gene on the X chromosome. (msdmanuals.com)
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Fragile X-associated tremor/ataxia syndrome is a genetic disorder affecting mostly men and causing tremor, ataxia, and dementia. (msdmanuals.com)
Fragile X cases have more than 200 repeats of the trinucleotide CGG at a fragile locus of the X chromosome (Xq27.3) which affords the basis of the molecular diagnosis of the syndrome. (omicsonline.org)
After examining the child, I decided to do some investigations that settled my provisional diagnosis of Fragile X syndrome with Autism Spectrum Disorder (ASD). (omicsonline.org)
Prader-Willi syndrome is the first human disorder attributed to genomic imprinting. (medscape.com)
Approximately 70% of Prader-Willi syndrome cases arise from deletion of band 15q11-13 on chromosome 15. (medscape.com)
Autism spectrum disorders (ASDs) are pervasive developmental disorders that include autism, Asperger syndrome, and pervasive developmental disorder-not otherwise specified (PDD-NOS). (biomedcentral.com)
Fragile X syndrome arises from a genetic mutation in a gene on the X chromosome. (findresources.co.uk)
80% of individuals with fragile X syndrome will have one or more of the physical features of the syndrome, but the presence of these features varies with age and sex. (findresources.co.uk)
The link between fragile X syndrome and Autism Spectrum Disorder (ASD) is complex. (findresources.co.uk)
Triple X syndrome, also referred to as 47, XXX, or trisomy X, is a complicated genetic condition where a woman is born with an additional X chromosome. (breakingnews21.com)
Non-invasive prenatal testing (NIPT) is a way of examining fetal DNA by taking a sample of blood from a pregnant woman to determine the baby's risk for a number of genetic disorders, including Down's syndrome. (healthchecks360.com)

The aim of this case report is to further understand the phenotypic features associated with interstitial deletions at the long arm of chromosome 7 and offer a basis for the development of a possible syndromic profile for these deletions in the future. (hindawi.com)
These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders. (biomedcentral.com)
Improved prediction of penetrance for individual carriers of rare genetic disorders is of great importance because information about the penetrance of a given genetic disorder (for example as used in a genetic counseling context) is typically based on reported phenotypic averages in clinical groups. (biomedcentral.com)
Several sexually dimorphic phenotypes correlate with sex-chromosome dosage rather than with phenotypic sex. (duke.edu)

Anxiety and unipolar mood disorders were overrepresented in females. (nih.gov)

Autosomal dominant is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
Autosomal" means that the gene in question is located on one of the numbered, or non-sex, chromosomes. (genome.gov)
By contrast, an autosomal recessive disorder requires two copies of the mutated gene (one from each parent) to cause the disorder. (genome.gov)
Huntington's disease is an example of an autosomal dominant genetic disorder. (genome.gov)
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
By contrast, an autosomal dominant disorder requires only a single copy of the mutated gene from one parent to cause the disorder. (genome.gov)
Sickle cell anemia is an example of an autosomal recessive genetic disorder. (genome.gov)
CNVs are linked to a diverse range of genetic disorders, including Autism Spectrum Disorders, autosomal disorders, X-linked Inheritance, UPD (Uniparental Disomy), and more. (mapmygenome.in)
Furthermore, X chromosome dosage is a major determinant of sex-biased autosomal gene expression, potentially explaining the many disorders where penetrance or expressivity may vary between individuals of different sexes. (biomedcentral.com)

The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans. (umassmed.edu)
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. (umassmed.edu)

Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders. (wisc.edu)

One potential path to advance precision medicine for neurogenetic disorders is modeling penetrance in probands relative to observed phenotypes in their non-carrier relatives. (biomedcentral.com)
Finally, we summarize the possible molecular consequences of chromosome aberrations for gene expression and function, and we discuss approaches for identification and unraveling the molecular determinants of congenital disease phenotypes. (biomedcentral.com)

Five of CDC's ADDM Network sites (Arkansas, Georgia, Maryland, Utah, and Wisconsin) began monitoring autism spectrum disorder (ASD) in 2018 among 16-year-old adolescents who were initially identified as having characteristics of ASD in 2010. (cdc.gov)

It has previously been shown that specific microdeletions and microduplications, many of which also associated with cognitive impairment (CI), can present with autism spectrum disorders (ASDs). (biomedcentral.com)
In the current study, a total of 279 unrelated subjects ascertained for ASDs were screened for genomic disorders associated with CI using MLPA. (biomedcentral.com)

Four sites on the X chromosome were 60 percent richer in rare, damaging variants in autistic boys than in their non-autistic brothers. (spectrumnews.org)
Rare and common autism risk variants converge across 16p. (cdc.gov)
Genetic risk factors for autism include both rare and common variants. (cdc.gov)
Patrick Short from Matthew Hurles' group at the Wellcome Sanger Institute investigated the de novo mutation rate in regulatory elements using over 10,000 whole genome sequencing samples from the Deciphering Developmental Disorders (DDD) study and found that de novo mutations (DNMs) in these individuals are enriched within the ultra-conserved elements and these variants may contribute to 1-3% of subjects without a diagnostic finding. (biomedcentral.com)
The X chromosome and X-linked variants have largely been ignored in genome-wide and candidate association studies of infectious diseases due to the complexity of statistical analysis of the X chromosome. (biomedcentral.com)

To clarify how limbic anatomy varies across sex and sex chromosome complement, we characterized amygdala and hippocampus structure in a uniquely large sample of patients carrying supernumerary sex chromosomes (n = 132) and typically developing controls (n = 166). (ox.ac.uk)
One possible explanation is that boys, who typically have only one X chromosome, cannot compensate for an altered copy of an X-chromosome gene in the same way that girls, who have two X chromosomes, can. (spectrumnews.org)
A term for people whose gender identity, expression or behavior aligns with those typically associated with their assigned sex at birth. (sonomacountybar.org)

RNA-seq, single cell analyses, eQTLs) in human tissue and model systems to identify and characterize the mechanisms involved in sex-differential and disorder-associated neurobiology. (wisc.edu)
Understanding the molecular mechanisms underlying Y chromosome-related diseases can have a significant impact on the prevention, diagnosis, and treatment of diseases. (biomedcentral.com)
However, a thorough understanding of the molecular mechanisms that lead to MCA/MR as a result of chromosome aberrations is often lacking. (biomedcentral.com)
Here, we review current methods for breakpoint identification and their impact on the interpretation of chromosome aberrations in patients with MCA/MR. In addition, we discuss opportunities to dissect disease mechanisms based on large-scale genomic technologies and studies in model organisms. (biomedcentral.com)
At the heart of the debate stand a few courageous physicians whose independent, multi-disciplinary approach to investigating the possible biological mechanisms of vaccine-induced autism is serving as a counterweight to the steadfast denials by infectious disease specialists and government health officials defending current mass vaccination policies. (nvic.org)

As a result of the extra Y chromosome, each cell has a total of 47 chromosomes instead of the usual 46. (medlineplus.gov)

This inheritance pattern may reflect the way in which DNA in a woman's X chromosomes can shuffle, or 'recombine,' during the creation of egg cells. (spectrumnews.org)

because they help determine whether a person will develop male or female sex characteristics. (medlineplus.gov)
Studies demonstrated that the Y chromosome is not a 'genetic wasteland' and can be a useful genetic marker for interpreting various male-specific physiological and pathophysiological characteristics. (biomedcentral.com)
What a doctor determines to be your physical sex based on the appearance of one's primary sex characteristics at birth. (sonomacountybar.org)

An egg's sex chromosome is always an X, so it is the sperm's sex chromosome that determines an individual's sex. (en-academic.com)

This project aims to translate the known biology of bipolar disorder, enhance the accessibility of the latest discoveries and interpret the meaning and relevance to individuals with bipolar disorder, their families, carers and health professionals that are not research active. (hrb.ie)

With regard to the "Biology" of genomes, several talks provided early results of elegant, yet massive, screens to better understand the biological and functional consequence of variation seen in either genomic disorders or cancer. (biomedcentral.com)

This study examined the association between insurance status and community-based services received outside of school among preschool-aged children with a prior autism spectrum disorder (ASD) diagnosis. (cdc.gov)
What are the most common co-occurring disorders found that make the diagnosis more complex? (nursing-assignments.com)

MVP+/- mice of both sexes show impairment in strengthening of open-eye responses after several days of monocular deprivation (MD), whereas closed-eye responses are weakened as normal, resulting in reduced overall OD plasticity. (eur.nl)
It may allow us to identify new kinds of language disorders and will clarify the relationships between language impairment and other developmental disorders. (brookes.ac.uk)

Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins. (wisc.edu)

There was substantial overlap between DNMs identified in cohorts diagnosed with developmental delay and autism-spectrum disorders. (biomedcentral.com)

Researchers working on the Study to Explore Early Development (SEED) have recently published many studies reporting on important findings related to autism spectrum disorder (ASD). (cdc.gov)

Morcillo P, Qin Y, Pe?a G, Mosenthal AC, Livingston DH, Spolarics Z. Directional X Chromosome Skewing of White Blood Cells from Subjects with Heterozygous Mosaicism for the Variant IRAK1 Haplotype. (umassmed.edu)

By looking at the proportions of fragments it is possible to determine if they come from a person with the standard complement of 46 chromosomes, or if there are more or fewer chromosomes. (healthchecks360.com)

Autism Spectrum Disorders (ASD) are a group of neurological conditions characterized by stereotypical or repetitive behaviors as well as impairments in social interaction and communication skills, often of genetic basis. (ist.ac.at)
This report was the first major review of evidence that vaccines can cause acute and chronic brain inflammation leading to neurological dysfunction associated with regressive autism. (nvic.org)
This enhanced public awareness has been fueled by persistent reports by parents in the U.S., Canada and Europe that their children were healthy, bright and happy until they received one or more vaccines and then descended into the isolated, painful world of autism marked by chronic immune and neurological dysfunction, including repetitive and uncontrollable behavior. (nvic.org)
Conservative estimates are that about 500,000 Americans are autistic but that number is growing daily, with new evidence that perhaps as many as 1 in 150 children are suffering from autism spectrum disorder that can include a range of neurological, behavior and immune system dysfunction. (nvic.org)

A human egg contains only one set of chromosomes (23) and is said to be haploid. (en-academic.com)
Sperm also have only one set of 23 chromosomes and are therefore haploid. (en-academic.com)
The human Y chromosome is a haploid male-specific chromosome. (biomedcentral.com)

The work also implicates the X-chromosome gene MAGEC3 in autism for the first time. (spectrumnews.org)

The hypothalamic-pituitary-adrenal (HPA) axis, a neuroendocrine network that controls hormonal responses to internal and external challenges in an organism's environment, exhibits strikingly sex-biased activity. (nature.com)

This suggests a potential role for sex-differential biology in modulating the impact of genetic and other risk factors, such that one sex is sensitized and/or the other is protected from risk. (wisc.edu)
The role of sex-differential biology in risk for autism spectrum disorder. (wisc.edu)

We encourage all chromosome variations to sign up for both the specialist consultations and the educational conference. (ndcforchildren.com)

This theory suggests that girls are inherently more resistant to factors that predispose someone to autism. (spectrumnews.org)
In our lab, we are trying to identify genetic factors that might play a role in these disorders. (brookes.ac.uk)

Recessive" means that two copies of the mutated gene (one from each parent) are required to cause the disorder. (genome.gov)
The human genome consists of two copies of each of 23 chromosomes (a total of 46). (en-academic.com)
This is due to the fetus having three, rather than two, copies of chromosome 21. (healthchecks360.com)
This is due to the fetus having three, rather than the normal two, copies of chromosome 18. (healthchecks360.com)

The long-term goal of this research program is to uncover fundamental etiological pathways in both sexes that will facilitate treatment development and benefit affected individuals and their families. (wisc.edu)

Autism is a condition related to brain development that can cause significant social, communication and behavioral challenges. (genome.gov)

Anatomy17

Organisms2

Diseases9

Analytical, Diagnostic and Therapeutic Techniques and Equipment5

Psychiatry and Psychology4

Phenomena and Processes30

Neurodevelopmental15

Aneuploidy7

Chromosomal7

Aneuploidies5

Attention-deficit7

Susceptibility4

Conserved sex-biased1

Genes18

Intellectual disability8

Differences17

Autosomes1

PAR11

Neuropsychiatric1

Genetics3

Males10

Prevalence2

Psychiatric6

Syndrome21

Phenotypic4

Females1

Autosomal9

Humans2

Sexually dimorphic1

Phenotypes2

20181

ASDs2

Variants5

Typically3

Mechanisms5

Usual 461

Inheritance1

Characteristics3

Individual's1

Bipolar disorder1

Genomic1

Diagnosis2

Impairment2

Familial1

Developmental delay1

Findings1

Mosaicism1

Complement1

Neurological4

Haploid3

Implicates1

Strikingly1

Biology2

Variations1

Factors2

Copies4

Pathways1

Behavioral1