Showing posts with label autism. Show all posts
Showing posts with label autism. Show all posts

Sunday, January 5, 2020

ARTICLE: Neurodevelopmental Disorders and Adaptive Functions: A Study of Children With ASD and/or ADHD

Posted by A on January 05, 2020 in

ARTICLE:

Neurodevelopmental Disorders and Adaptive Functions: A Study of Children With Autism Spectrum Disorders (ASD) and/or Attention Deficit and Hyperactivity Disorder (ADHD) (2019)

ABSTRACT:

Introduction: Autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder (ADHD) are the two most common neurodevelopmental disorders observed in childhood. The DSM-5 accepts a combined diagnosis of ADHD and ASD, while the DSM-IV did not. The aim of this study was to identify and evaluate the adaptive profile of children and adolescents with a diagnosis of comorbid ADHD and ASD, in comparison with adaptive functioning in subjects with a diagnosis of only ASD or ADHD. 
Materials and Methods: Ninety-one children (77 boys, 14 girls), aging from 3.1 to 13.4 years (mean age: 8.3 ± 7.2), who met the criteria for a diagnosis of ASD and/or ADHD were enrolled. A neuropsychological evaluation involving cognitive and adaptive assessment was conducted using the Autism Diagnostic Observation Schedule – Second Edition (ADOS-2), the Conners’ Parent Rating Scale – Revised: Long Version (CPRS-R), the Wechsler Intelligence Scale – Fourth Edition or the Griffiths Mental Developmental Scales – Extended Revised, the Vineland Adaptive Behaviour Scale – Second Edition (VABS-II). 
Conclusion: As to the adaptive skills in the three groups evaluated, a worse general profile was ascertained in the ASD and in ASD plus ADHD groups in comparison with respect to the ADHD-only group. With VABS-II evaluation, we found significant differences among the three groups across all domains and combined scores: 

  • Communication (F = 18.960; p < 0.001), 
  • Socialization (F = 25.410; p < 0.001), 
  • Daily Living Skills (F = 19.760; p < 0.001), 
  • Motor (F = 9.615; p < 0.001), 
  • and Adaptive behavior composite [ABC] (F = 29.370; p < 0.001). 
Implications of neurodevelopmental double diagnosis such as ASD plus ADHD are discussed.

KEYWORDS:

Autism spectrum
Attention deficit hyperactivity disorder (ADHD)
adaptive function


CITATION: 

Scandurra V, Emberti Gialloreti L, Barbanera F, Scordo MR, Pierini A and Canitano R (2019) Neurodevelopmental Disorders and Adaptive Functions: A Study of Children With Autism Spectrum Disorders (ASD) and/or Attention Deficit and Hyperactivity Disorder (ADHD).
Front. Psychiatry 10:673. doi: 10.3389/fpsyt.2019.00673
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Sunday, November 17, 2019

MASTERPOST: Research on Autism in Women & Girls

Posted by A on November 17, 2019 in

On the Gender Difference in Autism Research

Neuroscience

* Not all females will fit these descriptions, and not everyone who fits these descriptions will be female.

Diagnosis & Girls and Women

The Experience of Autistic Girls & Women

The Experience of Late-Diagnosed Autistic Women

Last updated: 11/2019
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Monday, November 4, 2019

Genetics of Autism

Posted by A on November 04, 2019 in
This morning on Twitter I accidentally came across some discussions that made me start googling for articles about the genetics of autism, and I figured I'd share some of what I found here.

Sharing doesn't necessarily mean I agree (and certainly not with the ableist/pathologicalization wordings), and and I'd love to hear what folks who are more familiar with genetics/biology and such have to say about these (especially autistic folks)!

And obviously his is in NO way a comprehensive list, as I'm trying not to lose my whole morning by hyperfocusing on this, so these are just a few things googled this morning!

Some Autism Genetics News Articles:


  • Autistic children may inherit DNA mutations from their fathers (Science Mag, 2018)
    Reporting on: "Paternally inherited cis-regulatory structural variants are associated with autism" (Science, 2018)

    ‣ "Research into the genetic risk for autism has mainly focused on how mutations that arise spontaneously in an individual’s genome—rather than being inherited from a parent—disrupt protein-coding regions and lead to the condition. That’s because these sporadic mutations have relatively large effects and studies have shown that such mutations, although individually rare, together contribute to about 25% to 30% of cases, says Jonathan Sebat, a geneticist at the University of California, San Diego." ‣ "Each individual has thousands of structural variants in their genome, so the researchers narrowed down their analysis to examine just a handful of regulatory regions where genetic variation seemed most likely to cause disruption. They chose these by finding regions where the general population has less variation than expected, suggesting that genetic changes there could be detrimental. These included sites involved in regulating gene activity during brain development and initiating the transcription of genes." ‣ "The team found that mothers passed only half of their structural variants on to their autistic children—a frequency that would be expected by chance alone—suggesting that variants inherited from mothers were not associated with autism. But surprisingly, fathers did pass on substantially more than 50% of their variants. This suggests that autistic children might have inherited risk variants in regulatory regions from their fathers but not their mothers, the researchers report today in Science." ‣ "Based on these results, Sebat proposes a more complex model of how autism arises, in which mothers pass on mutations affecting coding regions, which have large effects that women are protected from, while fathers pass on variants affecting noncoding regions; their effects are much more moderate and may only cause symptoms when combined with risk variants from mothers."

  • Nature of risk mutations varies with families’ history of autism (Spectrum News, 2016)
    Reporting on: "Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families" (AJHG, 2016)

    ‣ "Large autism-linked mutations tend to be inherited in families with a history of the condition. By contrast, they often arise spontaneously in families with a single affected person, suggests a new study." ‣ "The findings validate something researchers have long assumed: Studying multiplex families — those in which two or more siblings have autism — yields clues about autism’s heritability, whereas simplex families point to spontaneous, or de novo, mutations.
    “The kinds of families you pick will influence what kinds of genetic variation you find,” says lead investigator Daniel Geschwind, distinguished professor of neurology, psychiatry and human genetics at the University of California, Los Angeles." ‣ "In the new study, his team found that large deletions or duplications of DNA tend not to occur spontaneously in multiplex families. These large mutations are called copy number variants (CNVs). They are known to be enriched in people with autism from simplex families, but their role in multiplex families was unclear." ‣ "Even though CNVs in multiplex families tend to be inherited, not all the siblings with autism in those families carry the same CNV. The finding suggests that other factors besides the CNV contribute to their condition.
    “The take-home message is, if you just focus on one particular flavor of genetic variation, you don’t get the whole story,” says Jonathan Sebat, chief of the Beyster Center for Genomics of Neuropsychiatric Diseases at the University of California, San Diego." ‣ "Of the 1,532 families with autism they looked at, 78 percent have more than one child with the condition; the rest are simplex families." ‣ "Only 27 of the children with autism (about 2 percent) and 1 unaffected sibling carry a spontaneous CNV. By contrast, a 2015 study of 2,591 simplex families found spontaneous CNVs in nearly 4 percent of children with autism." ‣ "Unexpectedly, the researchers found that siblings with autism rarely share the same autism-linked CNV. In 21 multiplex families, the mutation the researchers found is not present in all children with autism in the family."

  • Sequencing thousands of whole genomes yields new autism genes (Spectrum News, 2017)
    Reporting on: "Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder" (Science, 2018)

    ‣ "The new work identified 61 genes associated with autism, 43 of which turned up in previous studies." ‣ "People with autism carry an average of 74 spontaneous, or de novo, mutations, the researchers found. They also have an average of about 13 large DNA duplications or deletions, called copy number variations (CNVs). ‣ "One of the 15 new genes, MED13, is related to the intellectual disability gene MED13L. MED13L emerged as an autism candidate in the study published last month. The new study identified harmful MED13 mutations in three families." ‣ "Harmful mutations in another new candidate, PHF3, appeared in four families. PHF3 is related to PHF2, which has been linked to autism in previous studies. PHF3 encodes a protein that regulates the structure of chromatin — the coiled complex of DNA and protein." ‣ "Of the 61 genes unearthed in the new study, 49 play a role in chromatin remodeling, RNA processing or building connections between neurons. These findings are in line with those of previous studies. They highlight the fact that these genes are functionally related and tend to work together." ‣ "The study identified CNVs across coding and noncoding parts of the genome. About 7.2 percent of participants with autism carry one or more harmful CNVs, the researchers found.
    They identified three new autism-linked CNVs that were too small to be picked up by standard sequencing techniques. They also uncovered five CNVs linked to autism that land in noncoding regions of the genome." ‣ "Participants with autism who carry a harmful CNV have lower intelligence quotients than those who carry a harmful mutation in a candidate gene. But they score higher on a test of adaptive functioning, which measures daily-living skills.
    This finding suggests that mutations in genes give rise to autism’s behavioral features, whereas CNVs underlie problems with cognition."

  • Study identifies 69 genes that increase the risk for autism (MedicalXpress, 2019)
    Reporting on: "Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks" (Cell, 2019)

    ‣ "Researchers from UCLA, Stanford University and three other institutions used a technique called whole genome sequencing to map the DNA of 2,300 people from nearly 500 families. They found 69 genes that increase the risk for autism spectrum disorder, or ASD; 16 of those genes were not previously suspected to be associated with a risk for autism." ‣ "Researchers also identified several hundred genes they suspect may increase the risk of autism based on their proximity to genes that were previously identified to carry an increased risk. The study further revealed several new biological pathways that had not previously been identified in studies of autism." ‣ ""We show a substantial difference between the types of mutations that occur in different types of families, such as those that have more than one affected child versus those having only one child with ASD," said Geschwind, who also is director of the UCLA Center for Autism Research and Treatment and director of the Institute of Precision Health at UCLA." ‣ "The research also found that the 16 genes newly determined to be associated with an increased risk for autism form a network with previously identified genes that are associated with a risk for autism spectrum disorder. The way they interact with one another further heightens the risk, said Dennis Wall, the study's co-senior author, a Stanford University School of Medicine associate professor of pediatrics and of biomedical data science.
    "They associate with each other more tightly than we'd expect by chance," he said. "These genes are talking to each other, and those interactions appear to be an important link to autism spectrum disorder."" ‣ "The nearly 600 genes researchers suspect to carry an increased risk of autism were identified through "guilt by association," meaning through their interactions with other genes that already had been shown to carry an increased autism risk, Ruzzo said. Although not all of those genes will be found to increase the risk for autism, the analysis indicated that future studies will provide support for many of these genes."

  • Genetics By Far The Biggest Factor In Autism Risk, Study Says (HuffPost, 2019)
    Reporting on: "Association of Genetic and Environmental Factors With Autism in a 5-Country Cohortm" (JAMA Psychiatry, 2019)

    ‣ "Now, a sweeping new study looking at more than 2 million people from five countries (Denmark, Finland, Sweden, Israel and Australia) found that about 80% of an individual’s risk of developing autism comes from inherited genetic factors and not from “environmental” influences, meaning anything other than changes to a gene’s DNA." ‣ "“What’s immense about this study is the number of children across the world that were [included] — two million in the study population — and the large span of time, of a 16-year follow-up,” Dr. Wendy Sue Swanson, a pediatrician with Seattle Children’s who did not work on the study, told HuffPost. “It’s hard to argue with the kind of tonnage of that number.”" ‣ “There is a lot of work that still needs to be done,” Sandin told HuffPost. “We still do not know which specific genes contribute to risk. Also, there are numerous potential environmental factors that could be related to ASD either directly or acting together with genes. We have, so far, only been scratching the surface.” ‣ "Although they’re often called “environmental” influences in the scientific literature, these factors go beyond things like the potential impact of chemical exposures on a person’s likelihood of developing autism. Researchers are probing the possible role that everything from diet to infection during pregnancy might play. For now, the studies are ongoing. There just is not much that autism researchers and pediatricians can say in the way of, “If you avoid XYZ, you will decrease your child’s risk of developing autism.”" ‣ "In an editorial that accompanied the new study, a team of three autism and psychiatry experts said the media has focused disproportionately on those environmental factors, perhaps because they are modifiable. An understandable pull exists to focus on the things that parents might be able to control to a certain extent. But that may have contributed to an incorrectly skewed sense of how much nature versus nurture contributes to the autism risk."

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MASTERPOST: PDA (Pathological/Pervasive Demand Avoidance)

Posted by A on November 04, 2019 in
PDA is a newly but-not-ubiquitously recognized profile without Autism (and what is likely behind any Autistic or ADHDer, if not everyone, with an Oppositional Defiance Disorder diagnosis). PDA stands for "Pathological Demand Avoidance," but many people prefer the term "Persistent Demand Avoidance," "Extreme Demand Avoidance," or just "Demand Avoidance," while some others contest the existence of it as a specific profile all together. Regardless, many individuals and families have found significant validation and guidance from learning about PDA and finding support groups.

What is PDA?

More About PDA:


Useful Sites:

Research:

Critiques:
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Sunday, October 27, 2019

MASTERPOST: Autistic Women & Girls

Posted by A on October 27, 2019 in
Here is a compilation of links talking about autistic women & girls, especially relating to getting diagnosed or being undiagnosed, as well as how autism can present in some women. However not all autistic women and girls fit the descriptions in these articles, and plenty of boys/men and non-binary/gender-non-conforming people do. None of this is exclusive to girls/women or required of them!

These links may also include some problematic language (ableism, gender binarism, functioning labels, etc) and ideas (though I try to avoid the ones that are especially so). Sharing these links does not necessarily mean I agree with/approve of all the ideas (or language) therein. However I think a lot of these links can be useful for some people, so I am sharing them along with this warning. Also, I would LOVE to compile a list like this for non-binary and gender non-conforming people, so please send me any links on that subject you know of!

A masterpost featuring (select) peer-reviewed research on women & girls coming soon!

Common Traits & Experiences

Diagnosing Autism in Women & Girls

Articles Featuring Late Diagnosis Stories

Books

 I've not read these so I can't speak to how good any of them are, please leave a comment if you've read any of them!
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Saturday, October 26, 2019

MASTERPOST: Neurodevelopmental Disorders & Hypermobility/ Connective Tissue Disorders Research

Posted by A on October 26, 2019 in

Here is a compilation of links about the connection between hypermobility/connective tissue disorders and neurodevelopmental conditions. The abstract of each paper be read by clicking each "Abstract" button.

Jump to:

ADHD
  • Benign Joint Hypermobility Syndrome in Patients with Attention Deficit/Hyperactivity Disorders - A Case Study (2009) (PDF Link)

    Objectives: In this study, we determined whether attention deficit/hyperactivity disorder (ADHD) is accompanied by benign joint hypermobility syndrome (BJHS) and evaluated the incidence of BJHS in patients with ADHD.
    Results: Benign joint hypermobility syndrome was found in 31.5% of the patients with ADHD and 13.9% of the individuals in the control group, and the difference was statistically significant (p=0.05). There were no statistically significant differences between the groups in FPS-R or Likert Pain Scale scores (p>0.05). A statistically significant increase was observed in the Beighton total score in ADHD patients compared with the control group (p=0.004).
    Conclusion: The results of this study support that joint hypermobility may be associated with ADHD, and this condition should be taken into consideration in assessing the complaints of patients with ADHD-related musculoskeletal symptoms.

  • Evaluation of the Prevalence of Joint Laxity in Children with Attention Deficit/Hyperactivity Disorder - A Case Study (2013, Free Article)

    Objective: The purpose of this study was to assess the prevalence of joint laxity in children with attention deficit hyperactivity disorder (ADHD).
    Result: Joint laxity was discovered in 74.4% of children with attention deficit hyperactivity disorder and in 12.8% of healthy controls.
    Conclusion: The prevalence of benign joint hypermobility syndrome was high in children with attention deficit hyperactivity disorder, which shows a new basis for further studies.

  • Pilot Study of Attention Deficit Hyperactivity Disorder-related Behaviors in a Pediatric Ehlers-Danlos Syndrome-Hypermobility type Population (2015, Free Article)

    Introduction: Clinical observation in the Cincinnati Children’s Hospital Medical Center (CCHMC) Connective Tissue Clinic as well as recent published research suggests a link between joint hypermobility and ADHD. However, existing studies are few in number and of limited clinical usefulness. The primary goal of this pilot study was to examine the proposed relationship between Ehlers-Danlos syndrome-Hypermobility type (EDS-HT) and attention-related behaviors in order to assess whether further, larger studies might be warranted.
    Results: Compared with controls, cases showed significantly higher t-scores on the Sluggish Cognitive Tempo (SCT) scale (p=0.006), and scores on the SCT scale correlated highly with scores on the Attention Problems syndrome scale (R=0.8298) and ADHD Problems DSM-oriented scale (R=0.6981). When scores were dichotomized, the two attention-related CBCL scales were among the scales that showed the largest difference in proportion of cases with t-scores = 65 (ADHD Problems DSM-oriented scale, p=0.147; Attention Problems syndrome scale, p=0.333).
    Conclusion: The significant findings in the SCT scale and observed trends in other attention-related scales indicate that larger future studies are needed to further elucidate the relationship between EDS-HT and attention problems. An association between EDS-HT and ADHD may influence clinical management of patients with both disorders.

Autism
  • Asperger's Syndrome and Ligamentous Laxity - A Case Study (1990) (PDF Link)

    Aims: Abnormalities of gross motor function in children with autism are well known to clinicians but have not received much empirical documentation and, with the exception of stereotypies, are not among its diagnostic criteria. We recorded the characteristics of gait and prevalence of toe walking, the range of passive joint mobility, and age at walking in children with DSM IV autism spectrum disorders (ASDs) and in age- and gender-matched typically developing peers (mean age 4 years 6 months, range 22 months–10 years 9 months).
    Results: Children with ASDs had significantly greater joint mobility (p < .002), more gait abnormalities (p < .0001), and on average walked 1.6 months later than their non-autistic peers.
    Interpretation: This study indicates that attention should be directed to motor abnormalities as well as sociability, communication, and restricted and repetitive behaviors in individuals with ASDs. Motor deficits add to children’s other handicaps. They indicate that ASDs affect a broader range of central nervous system circuitry than often appreciated.

  • Autism and Ehlers-Danlos syndrome - A Case Study (1992) (PDF Link)

    Presents the case report of a 13-yr-old autistic boy with a concomitant connective tissue disorder, Ehlers-Danlos syndrome. This, along with another case noted by P. Fehlow and A. Tennstedt (see record 1986-14545-001), provides a reason to speculate about possible etiological links between connective tissue disease and autistic symptomatology. Central nervous system developmental abnormalities in Ehlers-Danlos syndrome are noted.

  • High‐functioning autistic disorder with Ehlers‐Danlos syndrome - A Case Study (2011, Free Article)

    EHLERS‐DANLOS SYNDROME (EDS) represents a group of genetically heterogeneous connective tissue disorders. Recent articles have suggested associations between connective tissue disorders and autistic disorders.1, 2 We encountered an adolescent with EDS and autistic disorder. The patient was a 17‐year‐old boy at the time of writing. He gave the authors informed consent to publish this letter.

  • Abnormalities of joint mobility and gait in children with autism spectrum disorders (2014) (PDF Link)

    Aims: Abnormalities of gross motor function in children with autism are well known to clinicians but have not received much empirical documentation and, with the exception of stereotypies, are not among its diagnostic criteria. We recorded the characteristics of gait and prevalence of toe walking, the range of passive joint mobility, and age at walking in children with DSM IV autism spectrum disorders (ASDs) and in age- and gender-matched typically developing peers (mean age 4 years 6 months, range 22 months–10 years 9 months).
    Results: Children with ASDs had significantly greater joint mobility (p < .002), more gait abnormalities (p < .0001), and on average walked 1.6 months later than their non-autistic peers.
    Interpretation: This study indicates that attention should be directed to motor abnormalities as well as sociability, communication, and restricted and repetitive behaviors in individuals with ASDs. Motor deficits add to children’s other handicaps. They indicate that ASDs affect a broader range of central nervous system circuitry than often appreciated.

  • Autism Spectrum Disorders and Ehlers-Danlos Syndrome Hypermobility-Type : Similarities in clinical presentation(2016, Free Article)

    Autism Spectrum Disorder (ASD) is an etiologically and clinically heterogeneous group of neurodevelopmental conditions, characterized by impairments in communication, social interaction and restricted repetitive and stereotyped behaviors. Ehlers-Danlos Syndrome hypermobility-type (EDS-HT; also known as Joint Hypermobility Syndrome), is the most common hereditary disorder of the connective tissue. It is characterized by joint hypermobility and a wide range of articular and non-articular manifestations, including disturbances in different systems due to the widespread distribution of collagen in the body. The clinical presentations of ASD and EDS-HT share several similar features, and although literature that relates these two conditions is scarce, it suggests that a connective tissue disorder may contribute to autistic symptomatology. The present work reviews the similarities in the clinical presentation of both conditions. In addition, the case of a 12-year-old boy diagnosed with ASD in which autistic manifestations overlap and/or might be explained by the presence of EDS-HT is presented as illustration.

  • A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility (2018) (PDF Link)

    Reports suggest comorbidity between autism spectrum disorder (ASD) and the connective tissue disorder, Ehlers-Danlos syndrome (EDS). People with EDS and the broader spectrum of Generalized Joint Hypermobility (GJH) often present with immune- and endocrine-mediated conditions. Meanwhile, immune/endocrine dysregulation is a popular theme in autism research. We surveyed a group of ASD women with/without GJH to determine differences in immune/endocrine exophenotypes. ASD women 25 years or older were invited to participate in an online survey. Respondents completed a questionnaire concerning diagnoses, immune/endocrine symptom history, experiences with pain, and seizure history. ASD women with GJH (ASD/GJH) reported more immune- and endocrine-mediated conditions than their non-GJH counterparts (p = 0.001). Autoimmune conditions were especially prominent in the ASD/GJH group (p = 0.027). Presence of immune-mediated symptoms often co-occurred with one another (p < 0.001–0.020), as did endocrine-mediated symptoms (p < 0.001–0.045), irrespective of the group. Finally, the numbers of immune- and endocrine-mediated symptoms shared a strong inter-relationship (p < 0.001), suggesting potential system crosstalk. While our results cannot estimate comorbidity, they reinforce concepts of an etiological relationship between ASD and GJH. Meanwhile, women with ASD/GJH have complex immune/endocrine exophenotypes compared to their non-GJH counterparts. Further, we discuss how connective tissue regulates the immune system and how the immune/endocrine systems in turn may modulate collagen synthesis, potentially leading to higher rates of GJH in this subpopulation.

  • Autism, Joint Hypermobility-Related Disorders and Pain (2018, Free Article)

    Autism Spectrum Disorder (ASD) and Joint Hypermobility-Related Disorders are blanket terms for two etiologically and clinically heterogeneous groups of pathologies that usually appears in childhood. These conditions are seen by different medical fields, such as psychiatry in the case of ASD, and musculoskeletal disciplines and genetics in the case of hypermobility-related disorders. Thus, a link between them is rarely established in clinical setting, despite a scarce but growing body of research suggesting that both conditions co-occur more often than expected by chance. Hypermobility is a frequent sign of hereditary disorders of connective tissue (e.g., Ehlers-Danlos syndromes, Marfan syndrome), in which the main characteristic is the multisystem fragility that prone to proprioceptive and motor coordination dysfunction and hence to trauma and chronic pain. Considering the high probability that pain remains disregarded and untreated in people with ASD due to communication and methodological difficulties, increasing awareness about the interconnection between ASD and hypermobility-related disorders is relevant, since it may help identify those ASD patients susceptible to chronic pain.

  • Immune, Autonomic, and Endocrine Dysregulation in Autism and Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorders Versus Unaffected Controls (2019, Free Article)

    Background: A growing body of literature suggests etiological overlap between Ehlers-Danlos syndrome (EDS)/hypermobility spectrum disorders (HSD) and some cases of autism, although this relationship is poorly delineated. In addition, immune, autonomic, and endocrine dysregulation are reported in both conditions and may be relevant to their respective etiologies.
    Aims: To study symptom overlap in these two comorbid spectrum conditions.
    Outcomes and Results: The autism group reported similar though less severe symptomology as the EDS/HSD group, especially in areas of immune/autonomic/endocrine dysregulation, connective tissue abnormalities (i.e., skin, bruising/bleeding), and chronic pain. EDS/HSD mothers with autistic children reported more immune symptoms than EDS/HSD mothers without, suggesting the maternal immune system could play a heritable role in these conditions (p = 0.0119).
    Conclusions and Implications: These data suggest that EDS/HSD and autism share aspects of immune/autonomic/endocrine dysregulation, pain, and some tissue fragility, which is typically more severe in the former. This overlap, as well as documented comorbidity, suggests some forms of autism may be hereditary connective tissue disorders (HCTD).

Multiple Neurodevelopmental Disorders
  • Joint Hypermobility and Autonomic Hyperactivity: Relevance to Neurodevelopmental Disorders (2014) (PDF Link)

    Objective: To test the hypothesis that Joint hypermobility and autonomic dysfunction are over-expressed within neurodevelopmental disorders. Joint hypermobility is a widespread poorly recognized connective tissue condition with affected individuals overrepresented among panic and anxiety disorders, irritable bowel syndrome, fibromyalgia, and chronic fatigue. The relevance of hypermobility to neuropsychiatric disorders of developmental origin is currently unknown, despite anecdotal case reports and clinical suspicion of a link. Autonomic nervous system dysregulation, typically postural tachycardia syndrome is often found in hypermobile individuals. Interestingly, differences in amygdala and superior temporal cortex anatomy have been reported in hypermobile populations and functional abnormalities in patients with autism.
    Results: The neurodevelopmental cohort had a mean age of 34.6 years (27 male). Nineteen had Attention Deficit Hyperactivity Disorder (ADHD), 4 Autistic Spectrum Disorder (ASD), 1 Tourette Syndrome (TS) and the remainder combinations of ADHD, ASD and TS. Nine had co-morbid affective disorder. Eighteen patients (48.6%) were classified as hypermobile compared to 67/204(32.7%) in the general psychiatric group (p=0.048) and 3/29(10.3%) in healthy controls (p=0.007) and this prevalence was also significantly higher that reported in a large general population cohort (1156/6022, 19.19%). Mean autonomic dysfunction score was significantly higher in the neurodevelopmental cohort compared to controls. This effect was seen across all sub-scales of the ASQoLS. Total autonomic dysfunction score did not differ significantly between neurodevelopmental cohort and the general psychiatric group, however neurodevelopmental disorder patients had significantly higher scores on orthostatic and gastrointestinal disturbance subscales.
    Conclusion: We demonstrate for the first time that rates of hypermobility and symptoms of autonomic dysfunction are particularly high in adults with neurodevelopmental diagnoses. It is likely that the importance of hypermobility and autonomic dysfunction to the generation and maintenance of psychopathology in neurodevelopmental disorders is poorly appreciated. Work underway(autonomic testing, fMRI) will test the hypothesis that autonomic reactivity and interoceptive sensitivity predispose to the expression of psychiatric symptoms, particularly anxiety. It is further hypothesized that inefficient neural co-ordination of efferent autonomic drive with imprecise interoceptive representations may be amplified in hypermobile individuals. In hypermobility, this mechanism might explain increased vulnerability to stress sensitive and developmental neuropsychiatric conditions.

  • Joint hypermobility and the heritable disorders of connective tissue: clinical and empirical evidence of links with psychiatry (2015) (PDF Link)

    Objective: The heritable disorders of connective tissue (HDCTs) are a group of genetic disorders affecting connective tissue matrix proteins. Fragility, laxity of tissues and joint hypermobility (JH) are commons features of HDCT for which the prognosis may range from benign to life threatening. JH and HDCTs, especially joint hypermobility syndrome, Ehlers–Danlos syndromes and Marfan syndrome, have been associated with psychiatric symptomatology. We explored the existing knowledge concerning this association in order to provide an overview of mental disorders linked to JH/HDCT, as well as the hypotheses proposed to explain such association.

    Results: Psychiatric conditions in which there is some evidence of an association with JH/HDCT are anxiety disorders, depression, schizophrenia, neurodevelopmental disorders (autism, attention deficit/hyperactivity disorder, and developmental coordination disorder), eating disorders, personality disorders and substance use/misuse.

    Conclusion: Despite the need of more research, the available data highlight the importance of examining psychiatric symptoms in those affected by JH/HDCT and the importance of providing interventions with a multidisciplinary approach. The relationship between JH/HDCT and mental disorders merits further attention in order to improve current knowledge and clarify a possible common etiology.

  • Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type: Update and perspectives (2015) (PDF Link)

    In the last decade, increasing attention has been devoted to the extra‐articular and extra‐cutaneous manifestations of joint hypermobility syndrome, also termed Ehlers–Danlos syndrome, hypermobility type (i.e., JHS/EDS‐HT). Despite the fact that the current diagnostic criteria for both disorders remain focused on joint hypermobility, musculoskeletal pain and skin changes, medical practice and research have started investigating a wide spectrum of visceral, neurological and developmental complications, which represent major burdens for affected individuals. In particular, children with generalized joint hypermobility often present with various neurodevelopmental issues and can be referred for neurological consultation.

    It is common that investigations in these patients yield negative or inconsistent results, eventually leading to the exclusion of any structural neurological or muscle disorder. In the context of specialized clinics for connective tissue disorders, a clear relationship between generalized joint hypermobility and a characteristic neurodevelopmental profile affecting coordination is emerging. The clinical features of these patients tend to overlap with those of developmental coordination disorder and can be associated with learning and other disabilities. Physical and psychological consequences of these additional difficulties add to the chief manifestations of the pre‐existing connective tissue disorder, affecting the well‐being and development of children and their families. In this review, particular attention is devoted to the nature of the link between joint hypermobility, coordination difficulties and neurodevelopmental issues in children. Presumed pathogenesis and management issues are explored in order to attract more attention on this association and nurture future clinical research.

  • Phenotypic variability in developmental coordination disorder: Clustering of generalized joint hypermobility with attention deficit/hyperactivity disorder, atypical swallowing and narrative difficulties (2015) (PDF Link)

    Developmental coordination disorder (DCD) is a recognized childhood disorder mostly characterized by motor coordination difficulties. Joint hypermobility syndrome, alternatively termed Ehlers–Danlos syndrome, hypermobility type (JHS/EDS‐HT), is a hereditary connective tissue disorder mainly featuring generalized joint hypermobility (gJHM), musculoskeletal pain, and minor skin features. Although these two conditions seem apparently unrelated, recent evidence highlights a high rate of motor and coordination findings in children with gJHM or JHS/EDS‐HT. Here, we investigated the prevalence of gJHM in 41 Italian children with DCD in order to check for the existence of recognizable phenotypic subgroups of DCD in relation to the presence/absence of gJHM.

    Nineteen (46%) children showed gJHM and 22 (54%) did not. Children with DCD and gJHM showed a significant excess of frequent falls (95 vs. 18%), easy bruising (74 vs. 0%), motor impersistence (89 vs. 23%), sore hands for writing (53 vs. 9%), attention deficit/hyperactivity disorder (89 vs. 36%), constipation (53 vs. 0%), arthralgias/myalgias (58 vs. 4%), narrative difficulties (74 vs. 32%), and atypical swallowing (74 vs. 18%).

    This study confirms the non‐causal association between DCD and gJHM, which, in turn, seems to increase the risk for non‐random additional features. The excess of language, learning, and swallowing difficulties in patients with DCD and gJHM suggests a wider effect of lax tissues in the development of the nervous system.

  • Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers–Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised (2015) (PDF Link)

    Psychological distress is a known feature of generalized joint hypermobility (gJHM), as well as of its most common syndromic presentation, namely Ehlers–Danlos syndrome, hypermobility type (a.k.a. joint hypermobility syndrome — JHS/EDS‐HT), and significantly contributes to the quality of life of affected individuals. Most published articles dealt with the link between gJHM (or JHS/EDS‐HT) and anxiety‐related conditions, and a novel generation of studies is emerging aimed at investigating the psychopathologic background of such an association. In this paper, literature review was carried out with a semi‐systematic approach spanning the entire spectrum of psychopathological findings in gJHM and JHS/EDS‐HT.

    Interestingly, in addition to the confirmation of a tight link between anxiety and gJHM, preliminary connections with depression, attention deficit (and hyperactivity) disorder, autism spectrum disorders, and obsessive–compulsive personality disorder were also found. Few papers investigated the relationship with schizophrenia with contrasting results. The mind–body connections hypothesized on the basis of available data were discussed with focus on somatotype, presumed psychopathology, and involvement of the extracellular matrix in the central nervous system. The hypothesis of positive Beighton score and alteration of interoceptive/proprioceptive/body awareness as possible endophenotypes in families with symptomatic gJHM or JHS/EDS‐HT is also suggested. Concluding remarks addressed the implications of the psychopathological features of gJHM and JHS/EDS‐HT in clinical practice.

  • Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers–Danlos syndrome or hypermobility syndrome and their siblings (2016, Free Article)

    Background: To assess the risk of psychiatric disorders in Ehlers-Danlos syndrome (EDS) and hypermobility syndrome.

    Results: EDS was associated with ASD: risk ratio (RR) 7.4, 95 % confidence interval (95 % CI) 5.2–10.7; bipolar disorder: RR 2.7, CI 1.5–4.7; ADHD: RR 5.6, CI 4.2–7.4; depression: RR 3.4, 95 % CI 2.9–4.1; and attempted suicide: RR 2.1, 95 % CI 1.7–2.7, but not with suicide or schizophrenia. EDS siblings were at increased risk of ADHD: RR 2.1, 95 % CI 1.4–3.3; depression: RR 1.5, 95 % CI 1.1–1.8; and suicide attempt: RR 1.8, 95 % CI 1.4–2.3. Similar results were observed for individuals with hypermobility syndrome and their siblings.

    Conclusions: Individuals with EDS and hypermobility syndrome are at increased risks of being diagnosed with psychiatric disorders. These risk increases may have a genetic and/or early environmental background as suggested by evidence showing that siblings to patients have elevated risks of certain psychiatric disorders.

  • A connective tissue disorder may underlie ESSENCE problems in childhood (2017) (PDF Link)

    Background: Ehlers-Danlos syndrome hypermobility type, also known as Joint Hypermobility Syndrome (EDS-HT/JHS), is the most common hereditary disorder of the connective tissue (HDCT). It is characterized by tissue fragility, joint hypermobility and a wide range of articular and non-articular manifestations, which often appear in infancy. The clinical picture of EDS-HT/JHS is poorly known by the medical community, as is the presence of “ESSENCE” (Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations) problems in affected children.
    Aim: The present work reviews the clinical and empirical evidence for ESSENCE difficulties in children with EDS-HT/JHS.
    Results: Motor abnormality, hyperactivity/hypoactivity, inattention, speech/language, social interaction, behavioral, sleep, feeding and emotional problems are ESSENCE difficulties for which there is some evidence of an association with EDS-HT/JHS.
    Conclusion: Children with EDS-HT/JHS present ESSENCE problems that often coexist and tend to be recognized before the HDCT. Clinicians encountering children with ESSENCE problems should consider the possibility of an underlying HDCT such as EDS-HT/JHS, probably influencing neurodevelopmental attributes in a subgroup of children. Awareness of these interconnected clinical problems might help improve early referral, diagnosis and treatment of EDS-HT/JHS.

  • Joint hypermobility in young children: Exploring associations with behavioral profiles (2017) (No Free Article Found)

    Joint Hypermobility (JH) describes excessive movement in the normal plane of movement—in lay terms, “double-jointedness.” JH is common among children, occurring in about 8% - 39% of the population (Tofts, Elliott, Munns, Pacey, & Sillence, 2009) and is often associated, in older populations, with psychological symptoms such as anxiety, depression, panic disorder, and attention deficit hyperactive disorder (Bulbena, Pailhez, Bulbena-Cabre, MallorquiBague, & Baeza-Velasco, 2015). While there are numerous studies focusing upon the associations between JH and various psychological symptoms in adolescents and adults, there are still few studies that explore possible associations between JH and wide-range behavioral and psychological implications in younger children (Smith, et al., 2014). Given the statistically significant associations in adolescents and adults between JH symptoms and anxiety, panic, obsessive compulsive, and depressive disorders, and other psychiatric symptoms (Smith et al., 2014), and since JH is more prevalent in children than in adolescents and adults (Smith et al., 2014; Tofts et al., 2009), it was hypothesized that JH would be associated with behavioral profiles that may create problems for young children.

  • Psychiatric and psychological aspects in the Ehlers–Danlos syndromes (2017, Free Article)

    There is increasing amount of evidence pointing toward a high prevalence of psychiatric conditions among individuals with hypermobile type of Ehlers–Danlos syndrome (JHS/hEDS). A literature review confirms a strong association between anxiety disorders and JHSh/hEDS, and there is also limited but growing evidence that JHSh/hEDS is also associated with depression, eating, and neuro‐developmental disorders as well as alcohol and tobacco misuse. The underlying mechanisms behind this association include genetic risks, autonomic nervous system dysfunction, increased exteroceptive and interoceptive mechanisms and decreased proprioception. Recent neuroimaging studies have also shown an increase response in emotion processing brain areas which could explain the high affective reactivity seen in JHS/hEDS. Management of these patients should include psychiatric and psychological approaches, not only to relieve the clinical conditions but also to improve abilities to cope through proper drug treatment, psychotherapy, and psychological rehabilitation adequately coupled with modern physiotherapy. A multidimensional approach to this “neuroconnective phenotype” should be implemented to ensure proper assessment and to guide for more specific treatments. Future lines of research should further explore the full dimension of the psychopathology associated with JHS/hEDS to define the nature of the relationship. © 2017 Wiley Periodicals, Inc.

  • A possible connection between childhood pain, joint hypermobility and Neurodevelopmental disorders (2018) (PDF Link)

    We read with interest the paper “A case report and literature review of autism and attention deficit hyperactivity disorder in paediatric chronic pain” by Wiwe Lipsker et al in Acta Paediatrica (1) and would like to add some further paediatric aspects. The authors discussed the importance of adopting a broad paediatric and neuropsychiatric perspective and screening for neurodevelopmental comorbidities in children with chronic pain without any identified cause. Their informative case presentation was a six-year-old girl who had experienced chronic pain from a very young age. This had mainly been in her joint and muscles, combined with headache, and her joints were hypermobile. Her parents had visited different clinics and the medical work-up had been extensive. A tertiary pain clinic strongly suspected both autism and attention deficit hyperactivity disorder (ADHD) and these diagnoses were subsequently confirmed...

  • Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination disorder (2018) (PDF Link)

    Joint hypermobility (JH) is a common, though largely ignored physical trait with increasing clinical reverberations. A few papers suggest a link between JH and selected neurodevelopmental disorders, such as developmental coordination disorder (DCD). JH is also the hallmark of various hereditary connective tissue disorders (HCTDs). Children with HCTDs may present abnormal neurodevelopment but its manifestations remain undetermined.

    This study examined 23 children (group 1), aged 4–13 years, with different HCTDs (i.e., 19 with hypermobile Ehlers‐Danlos syndrome (EDS)/hypermobility spectrum disorder, 3 with molecularly confirmed classical EDS, and 1 with Loeys‐Dietz syndrome type 1 due to TGFBR2 mutation) and 23, age‐ and sex‐matched children with DCD (group 2). All underwent 14 different psychometric tests exploring motor, cognitive, executive‐attentive, and emotional‐behavior features.

    In group 1, 30%, 22%, and 13% patients presented DCD (with or without dysgraphia), learning disabilities, and attention deficit‐hyperactivity disorder, respectively. None had cognitive delay. In group 2, 17% patients presented generalized JH and none had HCTDs. DCD children presented more motor and coordination troubles than HCTDs patients, while quality of life of children with HCTDs resulted more deteriorated due to somatic manifestations and behavioral traits.

    This study presents the full overview of neurodevelopmental attributes in HCTDs, and compares with standardized tools the neurodevelopmental profile of children with DCD and HCTDs. While the high rate of neurodevelopmental comorbidities in HCTDs deserves attention, the impact of a dysfunctional connective tissue in children with a primary diagnosis of DCD needs more research.

  • Generalised joint hypermobility and neurodevelopmental traits in a non-clinical adult population (2018, Free Article)

    Background: Generalised joint hypermobility (GJH) is reportedly overrepresented among clinical cases of attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and developmental coordination disorder (DCD). It is unknown if these associations are dimensional and, therefore, also relevant among non-clinical populations.
    Aims: To investigate if GJH correlates with sub-syndromal neurodevelopmental symptoms in a normal population.
    Results: In total, 887 individuals met our entry criteria. We found no associations between GJH and sub-syndromal symptoms of ADHD, ASD or DCD.
    Conclusions: Although GJH is overrepresented in clinical cases with neurodevelopmental disorders, such an association seems absent in a normal population. Thus, if GJH serves as a biomarker cutting across diagnostic boundaries, this association is presumably limited to clinical populations.

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Sunday, October 20, 2019

ARTICLE: Trends in the Overlap of ASD and ADHD (2018)

Posted by A on October 20, 2019 in

ARTICLE:

Trends in the Overlap of Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder: Prevalence, Clinical Management, Language and Genetics (2018) (PDF Link)


ABSTRACT:

Purpose of Review

To review recent literature on the overlap of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), now both conditions can be dually diagnosed in the Diagnostic and Statistical Manual of Mental disorders 5th edition. 

Recent Findings

There is a high comorbidity with rates of comorbid ASD and ADHD ranging from 40 to 83%. Multidisciplinary assessment and management of the combined presentation is thus required. Language difficulties are a common comorbidity in both ASD and ADHD with around 60% of children with ASD and 40% of those with ADHD having language problems. Twin studies show up to 72% of the co-variance of ADHD, and ASD symptoms can be explained by shared additive genetic factors providing a genetic basis for the observed clinical overlap. 

Summary

There are still many gaps in our knowledge with limited research exploring well-defined groups of children with ASD only, ADHD only and ASD with ADHD. Clinicians should thoroughly assess ADHD symptomatology in children with ASD and vice versa to understand the challenges for these children and inform treatment planning.



KEYWORDS:

  • Autism spectrum disorder
  • Attention deficit hyperactivity disorder
  • Comorbidity
  • Treatment
  • Language


CITATION:

May, T., Brignell, A., Hawi, Z. et al. Curr Dev Disord Rep (2018) 5: 49. https://doi.org/10.1007/s40474-018-0131-8 
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Monday, January 7, 2019

Autism & EDS/HSD Studies

Posted by A on January 07, 2019 in
Here is an ongoing compilation of studies related to EDS/HSD & Autism Spectrum Disorders

A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility
Reports suggest comorbidity between autism spectrum disorder (ASD) and the connective tissue disorder, Ehlers-Danlos syndrome (EDS). People with EDS and the broader spectrum of Generalized Joint Hypermobility (GJH) often present with immune- and endocrine-mediated conditions. Meanwhile, immune/endocrine dysregulation is a popular theme in autism research. We surveyed a group of ASD women with/without GJH to determine differences in immune/endocrine exophenotypes. ASD women 25 years or older were invited to participate in an online survey. Respondents completed a questionnaire concerning diagnoses, immune/endocrine symptom history, experiences with pain, and seizure history. ASD women with GJH (ASD/GJH) reported more immune- and endocrine-mediated conditions than their non-GJH counterparts (p = 0.001). Autoimmune conditions were especially prominent in the ASD/GJH group (p = 0.027). Presence of immune-mediated symptoms often co-occurred with one another (p < 0.001–0.020), as did endocrine-mediated symptoms (p < 0.001–0.045), irrespective of the group. Finally, the numbers of immune- and endocrine-mediated symptoms shared a strong inter-relationship (p < 0.001), suggesting potential system crosstalk. While our results cannot estimate comorbidity, they reinforce concepts of an etiological relationship between ASD and GJH. Meanwhile, women with ASD/GJH have complex immune/endocrine exophenotypes compared to their non-GJH counterparts. Further, we discuss how connective tissue regulates the immune system and how the immune/endocrine systems in turn may modulate collagen synthesis, potentially leading to higher rates of GJH in this subpopulation.

A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk. (Marfan's + ASD)
Although countless highly penetrant variants have been associated with Mendelian disorders, the genetic etiologies underlying complex diseases remain largely unresolved. By mining the medical records of over 110 million patients, we examine the extent to which Mendelian variation contributes to complex disease risk. We detect thousands of associations between Mendelian and complex diseases, revealing a nondegenerate, phenotypic code that links each complex disorder to a unique collection of Mendelian loci. Using genome-wide association results, we demonstrate that common variants associated with complex diseases are enriched in the genes indicated by this "Mendelian code." Finally, we detect hundreds of comorbidity associations among Mendelian disorders, and we use probabilistic genetic modeling to demonstrate that Mendelian variants likely contribute nonadditively to the risk for a subset of complex diseases. Overall, this study illustrates a complementary approach for mapping complex disease loci and provides unique predictions concerning the etiologies of specific diseases.

Abnormalities of joint mobility and gait in children with autism spectrum disorders
Abnormalities of gross motor function in children with autism are well known to clinicians but have not received much empirical documentation and, with the exception of stereotypies, are not among its diagnostic criteria. We recorded the characteristics of gait and prevalence of toe walking, the range of passive joint mobility, and age at walking in children with DSM IV autism spectrum disorders (ASDs) and in age- and gender-matched typically developing peers (mean age 4 years 6 months, range 22 months–10 years 9 months). Methods: We evaluated maximum range of mobility at the elbow, wrist, metacarpo–phalangeal, and ankle joints and videoed children walking and running. Two neurologists blind to diagnosis independently scored features of gait clinically. Results: Children with ASDs had significantly greater joint mobility (p < .002), more gait abnormalities (p < .0001), and on average walked 1.6 months later than their non-autistic peers. Interpretation: This study indicates that attention should be directed to motor abnormalities as well as sociability, communication, and restricted and repetitive behaviors in individuals with ASDs. Motor deficits add to children’s other handicaps. They indicate that ASDs affect a broader range of central nervous system circuitry than often appreciated.

Autism, Joint Hypermobility-Related Disorders and Pain
Autism Spectrum Disorder (ASD) and Joint Hypermobility-Related Disorders are blanket terms for two etiologically and clinically heterogeneous groups of pathologies that usually appears in childhood. These conditions are seen by different medical fields, such as psychiatry in the case of ASD, and musculoskeletal disciplines and genetics in the case of hypermobility-related disorders. Thus, a link between them is rarely established in clinical setting, despite a scarce but growing body of research suggesting that both conditions co-occur more often than expected by chance. Hypermobility is a frequent sign of hereditary disorders of connective tissue (e.g., Ehlers-Danlos syndromes, Marfan syndrome), in which the main characteristic is the multisystem fragility that prone to proprioceptive and motor coordination dysfunction and hence to trauma and chronic pain. Considering the high probability that pain remains disregarded and untreated in people with ASD due to communication and methodological difficulties, increasing awareness about the interconnection between ASD and hypermobility-related disorders is relevant, since it may help identify those ASD patients susceptible to chronic pain.
Autism and heritable bone fragility: A true association? (Osteogenesis Imperfecta + ASD)
Osteogenesis Imperfecta (OI) is a heterogeneous condition mainly characterised by bone fragility; intelligence is reported to be normal. However, a minority of children seen also show symptomology consistent with an ‘Autism Spectrum Disorder’. A joint genetics and psychology research study was undertaken to identify these patients using ‘Gold Standard’ research tools: Autism Diagnostic Inventory Revised (ADI-R); Autism Diagnostic Observation Schedule (ADOS) and undertake genetic analyses in them.
Autism Spectrum Disorders and Ehlers-Danlos Syndrome Hypermobility-Type : Similarities in clinical presentation
Autism Spectrum Disorder (ASD) is an etiologically and clinically heterogeneous group of neurodevelopmental conditions, characterized by impairments in communication, social interac- tion and restricted repetitive and stereotyped behaviors. Ehlers-Danlos Syndrome hypermobility- type (EDS-HT; also known as Joint Hypermobility Syndrome), is the most common hereditary disorder of the connective tissue. It is characterized by joint hypermobility and a wide range of articular and non-articular manifestations, including disturbances in different systems due to the widespread distribution of collagen in the body. The clinical presentations of ASD and EDS-HT share several similar features, and although literature that relates these two conditions is scarce, it suggests that a connective tissue disorder may contribute to autistic symptomatology. The pre- sent work reviews the similarities in the clinical presentation of both conditions. In addition, the case of a 12-year-old boy diagnosed with ASD in which autistic manifestations overlap and/or might be explained by the presence of EDS-HT is presented as illustration.
Key

Generalised joint hypermobility and neurodevelopmental traits in a non-clinical adult population
Although GJH is overrepresented in clinical cases with neurodevelopmental disorders, such an association seems absent in a normal population. Thus, if GJH serves as a biomarker cutting across diagnostic boundaries, this association is presumably limited to clinical populations.
Joint hypermobility and the heritable disorders of connective tissue: clinical and empirical evidence of links with psychiatry
The heritable disorders of connective tissue (HDCTs) are a group of genetic disorders affecting connective tissue matrix proteins. Fragility, laxity of tissues and joint hypermobility (JH) are commons features of HDCT for which the prognosis may range from benign to life threatening. JH and HDCTs, especially joint hypermobility syndrome, Ehlers–Danlos syndromes and Marfan syndrome, have been associated with psychiatric symptomatology. We explored the existing knowledge concerning this association in order to provide an overview of mental disorders linked to JH/HDCT, as well as the hypotheses proposed to explain such association. Results- Psychiatric conditions in which there is some evidence of an association with JH/HDCT are anxiety disorders, depression, schizophrenia, neurodevelopmental disorders (autism, attention deficit/hyperactivity disorder, and developmental coordination disorder), eating disorders, personality disorders and substance use/misuse.

Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers–Danlos syndrome or hypermobility syndrome and their siblings
Individuals with EDS and hypermobility syndrome are at increased risks of being diagnosed with psychiatric disorders. These risk increases may have a genetic and/or early environmental background as suggested by evidence showing that siblings to patients have elevated risks of certain psychiatric disorders.


Case Studies

Asperger's syndrome and ligamentous laxity.
Two autistic girls and one autistic man in whom Asperger's syndrome coexists with lifelong ligamentous laxity and muscular incoordination are described. Two had cranial circumferences at or above the 90th percentile as children, two have complex partial epilepsy, one has a colloid cyst of the third ventricle, and one had evidence of Sotos syndrome. Echocardiography was performed in the two girls and both had evidence of increased aortic compliance. It is suggested that all three suffer from a Marfan-like disorder of connective tissue and, more speculatively, that this has led to anomalous development of midline brain structures with consequent social handicaps characteristic of Asperger's syndrome.
 Concomitant neuropsychiatric symptoms in a case of Ehlers-Danlos syndrome
The case of a 15-year-old boy with Ehlers-Danlos-Syndrome (EDS) is described. Clinically the symptoms of considerable hyperextension of joints, abnormal extensibility of skin, moderate bleeding tendencies and slight vulnerability of the skin, deformity of the thorax are corresponding with type I of EDS. Ocular symptoms are missing. Histologically the picture is that of mitis type resp. type II of EDS. An autosomal dominant inheritance is to be supposed. Psychically an imbecillity likely as a result of perinatally acquired brain damage, and an autistic syndrome of broken home situation are present. Differential diagnosis and genetic significance of EDS are discussed.
Cornelia de Lange and Ehlers-Danlos: comorbidity of two rare syndromes
We present a case of a young adult with both Cornelia de Lange syndrome and Ehlers-Danlos syndrome. The patient showed non-verbal autism, intellectual disability and severe/intractable self-harming behaviours that led to a life-threatening complication (ie, septicaemia). A significant reduction in the self-harming behaviours was attained in a multidisciplinary neurobehavioural inpatient unit after addressing all causes of somatic pains, managing pain using level II and III analgesics, stabilising the patient's mood, limiting the iatrogenic effects of multiple prescriptions and offering a specific psychoeducational approach.

High‐functioning autistic disorder with Ehlers‐Danlos syndrome

----------------------------------


Related (But perhaps doesn't specifically talk about EDS/Connective Tissue Disorders + Autism specifically, or much)

A connective tissue disorder may underlie ESSENCE problems in childhood
Ehlers-Danlos syndrome hypermobility type, also known as Joint Hypermobility Syndrome (EDS-HT/JHS), is the most common hereditary disorder of the connective tissue (HDCT). It is characterized by tissue fragility, joint hypermobility and a wide range of articular and non-articular manifestations, which often appear in infancy. The clinical picture of EDS-HT/JHS is poorly known by the medical community, as is the presence of “ESSENCE” (Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations) problems in affected children. -- Children with EDS-HT/JHS present ESSENCE problems that often coexist and tend to be recognized before the HDCT. Clinicians encountering children with ESSENCE problems should consider the possibility of an underlying HDCT such as EDS-HT/JHS, probably influencing neurodevelopmental attributes in a subgroup of children. Awareness of these interconnected clinical problems might help improve early referral, diagnosis and treatment of EDS-HT/JHS.

Brain structure and joint hypermobility: Relevance to the expression of psychiatric symptoms
Joint hypermobility is overrepresented among people with anxiety and can be associated with abnormal autonomic reactivity. We tested for associations between regional cerebral grey matter and hypermobility in 72 healthy volunteers using voxel-based morphometry of structural brain scans. Strikingly, bilateral amygdala volume distinguished those with from those without hypermobility. The hypermobility group scored higher for interoceptive sensitivity yet were not significantly more anxious. Our findings specifically link hypermobility to the structural integrity of a brain centre implicated in normal and abnormal emotions and physiological responses. Our observations endorse hypermobility as a multisystem phenotype and suggest potential mechanisms mediating clinical vulnerability to neuropsychiatric symptoms.
Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives
In the last decade, increasing attention has been devoted to the extra-articular and extra-cutaneous manifestations of joint hypermobility syndrome, also termed Ehlers–Danlos syndrome, hypermobility type (i.e., JHS/EDS-HT). Despite the fact that the current diagnostic criteria for both disorders remain focused on joint hypermobility, musculoskeletal pain and skin changes, medical practice and research have started investigating a wide spectrum of visceral, neurological and developmental complications, which represent major burdens for affected individuals. In particular, children with generalized joint hypermobility often present with various neurodevelopmental issues and can be referred for neurological consultation. It is common that investigations in these patients yield negative or inconsistent results, eventually leading to the exclusion of any structural neurological or muscle disorder. In the context of specialized clinics for connective tissue disorders, a clear relationship between generalized joint hypermobility and a characteristic neurodevelopmental profile affecting coordination is emerging. The clinical features of these patients tend to overlap with those of developmental coordination disorder and can be associated with learning and other disabilities. Physical and psychological consequences of these additional difficulties add to the chief manifestations of the pre-existing connective tissue disorder, affecting the well-being and development of children and their families. In this review, particular attention is devoted to the nature of the link between joint hypermobility, coordination difficulties and neurodevelopmental issues in children. Presumed pathogenesis and management issues are explored in order to attract more attention on this association and nurture future clinical research. ©
Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers-Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised
Psychological distress is a known feature of generalized joint hypermobility (gJHM), as well as of its most common syndromic presentation, namely Ehlers–Danlos syndrome, hypermobility type (a.k.a. joint hypermobility syndrome — JHS/EDS‐HT), and significantly contributes to the quality of life of affected individuals. Most published articles dealt with the link between gJHM (or JHS/EDS‐HT) and anxiety‐related conditions, and a novel generation of studies is emerging aimed at investigating the psychopathologic background of such an association. In this paper, literature review was carried out with a semi‐systematic approach spanning the entire spectrum of psychopathological findings in gJHM and JHS/EDS‐HT. Interestingly, in addition to the confirmation of a tight link between anxiety and gJHM, preliminary connections with depression, attention deficit (and hyperactivity) disorder, autism spectrum disorders, and obsessive–compulsive personality disorder were also found. Few papers investigated the relationship with schizophrenia with contrasting results. The mind–body connections hypothesized on the basis of available data were discussed with focus on somatotype, presumed psychopathology, and involvement of the extracellular matrix in the central nervous system. The hypothesis of positive Beighton score and alteration of interoceptive/proprioceptive/body awareness as possible endophenotypes in families with symptomatic gJHM or JHS/EDS‐HT is also suggested. Concluding remarks addressed the implications of the psychopathological features of gJHM and JHS/EDS‐HT in clinical practice.
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