Article
Psychiatry
Veronica Nistico, Adriano Iacono, Diana Goeta, Roberta Tedesco, Barbara Giordano, Raffaella Faggioli, Alberto Priori, Orsola Gambini, Benedetta Demartini
Summary: Autism spectrum disorders (ASDs) and functional neurological disorders (FNDs) share some clinical characteristics and both exhibit symptoms related to hypermobile Ehlers-Danlos Syndrome and hypermobile spectrum disorders. A study found that both ASDs and FNDs individuals have a higher prevalence of symptoms related to hEDS/HSD compared to the general population. This could be due to impaired executive functions and abnormal joint mobility.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Gastroenterology & Hepatology
Radha Dhingra, Rebecca Bascom, Elizabeth Thompson, Clair A. Francomano, Jane R. Schubart
Summary: Compared to controls, individuals with EDS had a higher proportion of GI drug prescription claims, especially among women and adults; indicating a predominant GI medication burden in female patients, with a significantly higher use of GI drugs also confirming the common gastrointestinal motility issues among individuals with EDS.
NEUROGASTROENTEROLOGY AND MOTILITY
(2021)
Article
Genetics & Heredity
Huitao Qian, Tao Zhou, Nan Zheng, Qiulun Lu, Yi Han
Summary: This study reports a congenital equinovarus deformity patient with a mutation located at the CHST14 gene. The mutation induces a truncated CHST14 protein, leading to unanticipated multiple tissue deformation and organ dysfunction in musculocontractural EDS patients.
FRONTIERS IN GENETICS
(2022)
Article
Psychology, Clinical
Courtney A. Polenick, Kira S. Birditt, Angela Turkelson, Helen C. Kales
Summary: The study found that discordance in chronic conditions between individuals and their spouses can affect physical activity levels and changes over time. Inconsistency in managing chronic conditions at the individual level is associated with lower initial moderate activity, while inconsistency between spouses does not significantly impact physical activity.
Article
Health Care Sciences & Services
Matteo Rocchetti, Alessandra Bassotti, Jacopo Corradi, Stefano Damiani, Gianluigi Pasta, Salvatore Annunziata, Viviana Guerrieri, Mario Mosconi, Davide Gentilini, Natascia Brondino
Summary: The study conducted in a diagnostic center in northern Italy found that EDS patients have a high level of psychological distress, low quality of life, and a high prevalence of autistic traits. Pain is significantly associated with psychological distress and worse quality of life.
Review
Gastroenterology & Hepatology
Phoebe A. Thwaites, Peter R. Gibson, Rebecca E. Burgell
Summary: Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) pose challenges in diagnosis and management. Gastrointestinal symptoms are common in this group, with possible links to connective tissue laxity, autonomic dysfunction, medication, and comorbid mental health disorders. Early diagnosis is crucial for management.
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2022)
Article
Gastroenterology & Hepatology
Ching Y. Lam, Olafur S. Palsson, William E. Whitehead, Ami D. Sperber, Hans Tornblom, Magnus Simren, Imran Aziz
Summary: Individuals with HSD/hEDS have a high prevalence of Rome IV FGIDs, with factors such as number of somatic symptoms, quality of life, and healthcare utilization playing a role. Treatment of somatic symptoms related to FGIDs should be emphasized in patients with HSD/hEDS to reduce the burden of gastrointestinal illness.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Article
Rheumatology
Rachel S. Brooks, James Grady, Thomas W. Lowder, Svetlana Blitshteyn
Summary: The study found that gastrointestinal, cardiovascular, autonomic, and allergic manifestations are significantly more prevalent in EDS patients compared with hospitalized patients without EDS, and EDS patients are more likely to have longer hospital stays.
Article
Clinical Neurology
Erik Kindgren, Antonia Quinones Perez, Rajna Knez
Summary: The study reveals a strong association between HSD or hEDS and ADHD or ASD, with higher ADHD prevalence in children with the conditions and those with both ADHD and the condition showing more associated symptoms.
NEUROPSYCHIATRIC DISEASE AND TREATMENT
(2021)
Article
Gastroenterology & Hepatology
Xiao Jing Wang, Mary Babameto, Dusica Babovic-Vuksanovic, Juan M. Bowen, Michael Camilleri
Summary: This study summarized the abdominal manifestations in patients with LDS and vEDS, revealing a propensity for gastrointestinal symptoms, abdominal hernias, and aneurysm formation in both disorders. However, arterial repair was more prevalent in LDS patients compared to vEDS patients.
DIGESTIVE DISEASES AND SCIENCES
(2021)
Review
Genetics & Heredity
Carolina Baeza-Velasco
Summary: Joint hypermobility, Ehlers-Danlos syndromes, and hypermobility spectrum disorders are related to neurodevelopmental conditions, although the latter often go unnoticed in clinical settings. The coexistence of connective tissue-altered conditions and neurodevelopmental atypisms may increase disability in patients, highlighting the need for greater awareness among clinicians and researchers.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
(2021)
Review
Genetics & Heredity
Gregory Reychler, Maya-Mafalda De Backer, Elise Piraux, William Poncin, Gilles Caty
Summary: Different physiotherapy techniques have shown beneficial effects in patients with hEDS, with improvements in pain and proprioception regardless of the intervention type. Inspiratory muscle training has been observed to be beneficial for functional exercise capacity. Despite the lack of robust randomized control studies, physiotherapy has been systematically shown to improve quality of life in patients with hEDS.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Review
Clinical Neurology
Kiley C. Whalen, Wilson Crone
Summary: Ehlers-Danlos syndromes (EDS) are a group of genetic disorders that affect connective tissues, with hypermobile EDS (hEDS) being the most common type. It causes various symptoms, with chronic pain being a significant issue. Current guidelines for managing chronic pain in EDS are lacking, leading medical professionals to adopt a conservative multidisciplinary approach, although the efficacy of these methods is not well-established.
JOURNAL OF PAIN RESEARCH
(2022)
Article
Psychiatry
Carolina Baeza-Velasco, Sonia Lorente, Elisabet Tasa-Vinyals, Sebastien Guillaume, Maria Soledad Mora, Paola Espinoza
Summary: This study compared gastrointestinal symptoms, disordered eating, and body mass index (BMI) between Ehlers-Danlos syndrome (EDS) patients and healthy controls, finding that EDS patients had more gastrointestinal symptoms, food allergies/intolerances, a higher prevalence of eating disorder history, a higher risk of current eating disorder, and lower BMI than controls. Additionally, for the first time, the study confirmed the association between disordered eating and gastrointestinal problems in this specific population.
EATING AND WEIGHT DISORDERS-STUDIES ON ANOREXIA BULIMIA AND OBESITY
(2021)
Review
Rehabilitation
Mackenzie Garreth Brittain, Sarah Flanagan, Lindsey Foreman, Patricia Teran-Wodzinski
Summary: This review article aims to systematically map the evidence on physical therapy interventions for individuals with G-HSD and hEDS. The findings suggest that therapeutic exercise and motor function training are effective methods for treating these patients. There is also limited evidence supporting the use of adaptive equipment, patient instruction, manual therapy, and functional training. Further research is needed to determine the effectiveness and dosage of physical therapy interventions in this population.
DISABILITY AND REHABILITATION
(2023)
Article
Multidisciplinary Sciences
Varun Warrier, David M. Greenberg, Elizabeth Weir, Clara Buckingham, Paula Smith, Meng-Chuan Lai, Carrie Allison, Simon Baron-Cohen
NATURE COMMUNICATIONS
(2020)
Article
Genetics & Heredity
Elizabeth Weir, Carrie Allison, Ken K. Ong, Simon Baron-Cohen
Summary: Studies show that autistic adults, especially females, often exhibit unhealthy diet, exercise, and sleep patterns, and are more likely to be underweight or obese. Limited sleep duration and disturbances are common, unrelated to epilepsy. Lifestyle factors are linked to higher risk of cardiovascular conditions in autistic males, surpassing family history.
Article
Behavioral Sciences
Elizabeth Weir, Carrie Allison, Simon Baron-Cohen
Summary: There are significant differences in sexual orientation and behavior between autistic and nonautistic individuals, with autistic individuals more likely to report asexuality or other sexual orientations. When comparing sexes, autistic males are more likely to be bisexual, while autistic females are more likely to be homosexual. Autistic adults also tend to have a wider range of sexual orientations compared to the general population.
Article
Psychology, Developmental
Tslil Simantov, Alexa Pohl, Alexandros Tsompanidis, Elizabeth Weir, Michael Lombardo, Amber Ruigrok, Paula Smith, Carrie Allison, Simon Baron-Cohen, Florina Uzefovsky
Summary: The study aimed to investigate the association between autism and autistic traits with conditions and symptoms related to the sex-steroid system in adult women. Results showed that higher rates of reproductive system diagnoses, prediabetes symptoms, irregular puberty onset, and menstrual length were associated with autism diagnosis. Additionally, conditions related to steroid hormones function were more frequent in autistic women and correlated with autistic traits. The findings suggest an important role of steroids in autistic women beyond prenatal development.
Article
Health Care Sciences & Services
Robin van Kessel, Rok Hrzic, Ella O'Nuallain, Elizabeth Weir, Brian Li Han Wong, Michael Anderson, Simon Baron-Cohen, Elias Mossialos
Summary: The COVID-19 pandemic has accelerated the adoption of digital health worldwide, revealing both the benefits and inequalities in accessing these innovations. This article uses the autism community as a case study to explore the potential benefits of digital technologies for the global population. Additionally, policies in various countries are examined to understand how they can promote inclusive digital health systems. The study concludes that digital health ecosystems should prioritize health equity and calls for a better understanding of digital health literacy.
JOURNAL OF MEDICAL INTERNET RESEARCH
(2022)
Article
Genetics & Heredity
Elizabeth Weir, Carrie Allison, Simon Baron-Cohen
Summary: Recent research suggests that autistic individuals have shorter lifespans and experience worse health than non-autistic individuals. This study found that autistic adults reported lower quality healthcare, including poor access to healthcare and communication difficulties, along with increased anxiety and sensory sensitivity. Autistic adults were also more likely to have chronic health conditions.
Editorial Material
Pediatrics
Elizabeth. M. M. Weir
Article
Psychology, Developmental
Elizabeth Weir, Carrie Allison, Varun Warrier, Simon Baron-Cohen
Summary: Autistic individuals may have a higher risk of premature mortality due to various physical health conditions. This study found that autistic adults, especially females, are more likely to develop cardiovascular conditions, respiratory conditions, asthma, and other health issues compared to their non-autistic counterparts. Even after adjusting for factors like age, ethnicity, education level, and lifestyle habits, autistic individuals still face increased health risks.