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Frontiers in Psychiatry 2022I suggest that the current study of autism is problematic, due to: (1) its failure to pursue a medical model of disease causation, with protocols for differential...
I suggest that the current study of autism is problematic, due to: (1) its failure to pursue a medical model of disease causation, with protocols for differential diagnoses of causes; (2) a notable incidence of unrecognized false positive diagnoses in children; (3) the conceptual equating of autism with sets of traits that have been shown to be genetically and phenotypically unrelated to one another; and (4) the expansion of use of the terms "autism" and "autism traits" to psychiatric conditions that have no substantive etiological or symptomatic overlap with autism. These problems can be alleviated by, like Kanner, considering autism as a syndrome, a constellation of traits, conceptualized as differences rather than deficits, some set of which is found in each affected individual to some degree. The original, prototypical form of autism can be delineated based on the "hallmarks" of autism: a set of core traits, originally explicated by Kanner, that defines a relatively-homogeneous group, and that connects with the larger set of autism symptoms. The hallmarks of autism provide a touchstone for research that is unambiguous, historically continuous to the present, and linked with major theories for explaining the causes and symptoms of autism. Use of the hallmarks of autism does not impact recognition and treatment of individuals with DSM diagnosed autism, or individuals with the many disorders that involve social deficits. This perspective is compatible with the research domain criteria approach to studying autism, analyses of autism's constituent traits and the differential diagnosis of its individual-specific causes.
PubMed: 35982934
DOI: 10.3389/fpsyt.2022.937163 -
Nutrients Dec 2019The metabolic syndrome (MetS) is a constellation of cardiometabolic risk factors that identifies people at increased risk for type 2 diabetes and cardiovascular disease.... (Review)
Review
The metabolic syndrome (MetS) is a constellation of cardiometabolic risk factors that identifies people at increased risk for type 2 diabetes and cardiovascular disease. While the global prevalence is 20%-25% of the adult population, the prevalence varies across different racial/ethnic populations. In this narrative review, evidence is reviewed regarding the assessment, management and prevention of MetS among people of different racial/ethnic groups. The most popular definition of MetS considers race/ethnicity for assessing waist circumference given differences in visceral adipose tissue and cardiometabolic risk. However, defining race/ethnicity may pose challenges in the clinical setting. Despite 80% of the world's population being of non-European descent, the majority of research on management and prevention has focused on European-derived populations. In these studies, lifestyle management has proven an effective therapy for reversal of MetS, and randomised studies are underway in specific racial/ethnic groups. Given the large number of people at risk for MetS, prevention efforts need to focus at community and population levels. Community-based interventions have begun to show promise, and efforts to improve lifestyle behaviours through alterations in the built environment may be another avenue. However, careful consideration needs to be given to take into account the unique cultural context of the target race/ethnic group.
Topics: Diet; Exercise; Humans; Metabolic Syndrome; Risk Factors
PubMed: 31861719
DOI: 10.3390/nu12010015 -
Paediatric and Perinatal Epidemiology May 2021Fetal aneuploidy risk increases with maternal age, but the majority of pregnancies complicated by trisomy 21 occur in younger women. It has been suggested that...
BACKGROUND
Fetal aneuploidy risk increases with maternal age, but the majority of pregnancies complicated by trisomy 21 occur in younger women. It has been suggested that grandmaternal and/or paternal age may also play a role.
OBJECTIVES
To assess the association between grandmaternal and paternal age and trisomy 21.
METHODS
For the grandmaternal assessments, we included all offspring with trisomy 21 in a statewide birth defects surveillance system (1995-2015) that could be linked to 3-generation matrilineal pedigrees in the Utah Population Database. Ten sex/birth year-matched controls were selected for each case (770 cases and 7700 controls). For the paternal assessments, our cohort included all trisomy 21 cases (1995-2015) where both the mother and father resided in Utah at the time of birth (1409 cases and 14 090 controls). Ages were categorised by 5-year intervals (reference: 25-29 years). Conditional logistic regression, adjusting for potential confounding factors, was used to model the association between grandmaternal and paternal age and trisomy 21.
RESULTS
No association between grandmaternal age and trisomy 21 was detected, whether age was assessed continuously (adjusted odds ratio [OR] 1.01, 95% confidence interval [CI] 0.98, 1.03) or categorically after adjusting for grandmaternal and grandpaternal race/ethnicity and grandpaternal age. Compared to fathers aged 20-29 years, fathers <20 years (OR 3.15, 95% CI 1.99, 4.98) and 20-24 years (OR 1.39, 95% CI 1.11, 1.73) had increased odds of trisomy 21 offspring, after adjusting for maternal and paternal race/ethnicity and maternal age. Results were consistent after excluding stillbirths, multiples, and trisomy 21 due to translocation or mosaicism.
CONCLUSIONS
Maternal age is an important risk factor for trisomy 21 offspring; however, this population-based study shows that that young paternal age is also associated with trisomy 21, after taking into account maternal age and race/ethnicity.
Topics: Case-Control Studies; Child, Preschool; Down Syndrome; Fathers; Female; Humans; Male; Odds Ratio; Paternal Age; Pregnancy; Risk Factors; Trisomy
PubMed: 33258505
DOI: 10.1111/ppe.12737 -
Evolutionary Applications Jul 2021Evolutionary and comparative approaches can yield novel insights into human adaptation and disease. Endometriosis and polycystic ovary syndrome (PCOS) each affect up to... (Review)
Review
Evolutionary and comparative approaches can yield novel insights into human adaptation and disease. Endometriosis and polycystic ovary syndrome (PCOS) each affect up to 10% of women and significantly reduce the health, fertility, and quality of life of those affected. PCOS and endometriosis have yet to be considered as related to one another, although both conditions involve alterations to prenatal testosterone levels and atypical functioning of the hypothalamic-pituitary-gonadal (HPG) axis. Here, we propose and evaluate the novel hypothesis that endometriosis and PCOS represent extreme and diametric (opposite) outcomes of variation in HPG axis development and activity, with endometriosis mediated in notable part by low prenatal and postnatal testosterone, while PCOS is mediated by high prenatal testosterone. This diametric disorder hypothesis predicts that, for characteristics shaped by the HPG axis, including hormonal profiles, reproductive physiology, life-history traits, and body morphology, women with PCOS and women with endometriosis will manifest opposite phenotypes. To evaluate these predictions, we review and synthesize existing evidence from developmental biology, endocrinology, physiology, life history, and epidemiology. The hypothesis of diametric phenotypes between endometriosis and PCOS is strongly supported across these diverse fields of research. Furthermore, the contrasts between endometriosis and PCOS in humans parallel differences among nonhuman animals in effects of low versus high prenatal testosterone on female reproductive traits. These findings suggest that PCOS and endometriosis represent maladaptive extremes of both female life-history variation and expression of sexually dimorphic female reproductive traits. The diametric disorder hypothesis for endometriosis and PCOS provides novel, unifying, proximate, and evolutionary explanations for endometriosis risk, synthesizes diverse lines of research concerning the two most common female reproductive disorders, and generates future avenues of research for improving the quality of life and health of women.
PubMed: 34295358
DOI: 10.1111/eva.13244 -
Clinical Science (London, England :... Aug 2023The placental syndromes gestational hypertension, preeclampsia and intrauterine growth restriction are associated with an increased cardiovascular risk to the mother... (Review)
Review
The placental syndromes gestational hypertension, preeclampsia and intrauterine growth restriction are associated with an increased cardiovascular risk to the mother later in life. In this review, we argue that a woman's pre-conception cardiovascular health drives both the development of placental syndromes and long-term cardiovascular risk but acknowledge that placental syndromes can also contribute to future cardiovascular risk independent of pre-conception health. We describe how preclinical studies in models of preeclampsia inform our understanding of the links with later cardiovascular disease, and how current pre-pregnancy studies may explain relative contributions of both pre-conception factors and the occurrence of placental syndromes to long-term cardiovascular disease.
Topics: Pregnancy; Female; Humans; Cardiovascular Diseases; Pre-Eclampsia; Syndrome; Placenta; Cardiovascular System
PubMed: 37606085
DOI: 10.1042/CS20211130 -
Journal of Human Hypertension Aug 2023Higher blood pressure prior to pregnancy is associated with increased risk of placental abruption, hypertension and preeclampsia, preterm delivery and fetal growth... (Review)
Review
Higher blood pressure prior to pregnancy is associated with increased risk of placental abruption, hypertension and preeclampsia, preterm delivery and fetal growth restriction. These conditions are jointly termed placental syndromes as they are characterised by impaired placentation and early placental vascularization. Placental syndromes are associated with an increased maternal risk of progression to hypertension and cardiovascular disease (CVD) in later life. Women affected by both a clinical placental syndrome and with evidence of placental maternal vascular malperfusion (MVM) have a particularly high risk of hypertension and CVD. Yet whether placental impairment and clinical syndromes are causes or consequences of higher blood pressure in women remains unclear. In this review, we address the relationship between blood pressure and maternal health in pregnancy. We conclude that there is a pressing need for studies with a range of detailed measures of cardiac and vascular structure and function taken before, during and after pregnancy to solve the 'chicken and egg' puzzle of women's blood pressure and pregnancy health, and to inform effective precision medicine prevention and treatment of both placental syndromes and chronic hypertension in women.
Topics: Pregnancy; Female; Humans; Placenta; Syndrome; Hypertension; Pre-Eclampsia; Cardiovascular Diseases; Placentation
PubMed: 36702879
DOI: 10.1038/s41371-023-00802-4 -
Orphanet Journal of Rare Diseases Nov 2007Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these... (Review)
Review
Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem examination and genetic studies suggest that these conditions represent a phenotypic continuum. Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome, as in one-third of cases. Anophthalmia/microphthalmia have complex aetiology with chromosomal, monogenic and environmental causes identified. Chromosomal duplications, deletions and translocations are implicated. Of monogenic causes only SOX2 has been identified as a major causative gene. Other linked genes include PAX6, OTX2, CHX10 and RAX. SOX2 and PAX6 mutations may act through causing lens induction failure. FOXE3 mutations, associated with lens agenesis, have been observed in a few microphthalmic patients. OTX2, CHX10 and RAX have retinal expression and may result in anophthalmia/microphthalmia through failure of retinal differentiation. Environmental factors also play a contributory role. The strongest evidence appears to be with gestational-acquired infections, but may also include maternal vitamin A deficiency, exposure to X-rays, solvent misuse and thalidomide exposure. Diagnosis can be made pre- and post-natally using a combination of clinical features, imaging (ultrasonography and CT/MR scanning) and genetic analysis. Genetic counselling can be challenging due to the extensive range of genes responsible and wide variation in phenotypic expression. Appropriate counselling is indicated if the mode of inheritance can be identified. Differential diagnoses include cryptophthalmos, cyclopia and synophthalmia, and congenital cystic eye. Patients are often managed within multi-disciplinary teams consisting of ophthalmologists, paediatricians and/or clinical geneticists, especially for syndromic cases. Treatment is directed towards maximising existing vision and improving cosmesis through simultaneous stimulation of both soft tissue and bony orbital growth. Mild to moderate microphthalmia is managed conservatively with conformers. Severe microphthalmia and anophthalmia rely upon additional remodelling strategies of endo-orbital volume replacement (with implants, expanders and dermis-fat grafts) and soft tissue reconstruction. The potential for visual development in microphthalmic patients is dependent upon retinal development and other ocular characteristics.
Topics: Anophthalmos; HMGB Proteins; Humans; Magnetic Resonance Imaging; Microphthalmos; Mutation; Prevalence; SOXB1 Transcription Factors; Transcription Factors; Vitamin A Deficiency
PubMed: 18039390
DOI: 10.1186/1750-1172-2-47 -
Cureus Jul 2019Anti-N-methyl-D-aspartate receptor (NMDA) encephalitis is an underrecognized encephalitis that may be mistaken for a wide variety of mental illnesses and causes of...
Anti-N-methyl-D-aspartate receptor (NMDA) encephalitis is an underrecognized encephalitis that may be mistaken for a wide variety of mental illnesses and causes of delirium. This syndrome is predominantly present in young females presenting with acute psychotic episodes, autonomic instability, and neurologic abnormalities. It is commonly associated with ovarian teratoma. Our case illustrates anti-NMDA encephalitis presenting in a young female with progressive mental status changes and neurologic abnormalities throughout her emergency department course. We review the investigative approach, diagnostic modalities, and treatment options in patient management. This case emphasizes the need for a high index of suspicion of anti-NMDA receptor encephalitis when approaching a patient with unexplained changes in mentation.
PubMed: 31565599
DOI: 10.7759/cureus.5192 -
Skin Therapy Letter 2013Chronic urticaria is defined as hives, typically occurring daily, for greater than 6 weeks duration. Chronic idiopathic urticaria, which has no discernable external... (Review)
Review
Chronic urticaria is defined as hives, typically occurring daily, for greater than 6 weeks duration. Chronic idiopathic urticaria, which has no discernable external cause, comprises the majority of cases of chronic urticaria. Over half of all cases of chronic idiopathic urticaria are thought to occur by an autoimmune mechanism, primarily autoantibodies against the high affinity immunoglobulin E (IgE) receptor (FcεRI). Chronic urticaria is hypothesized to occur because of a predilection in the patient to develop reactions to self. Supporting this hypothesis, a strong association has been found between chronic urticaria and additional autoimmune diseases, such as thyroid disease, rheumatoid arthritis, systemic lupus erythematosus, Sjögren's syndrome, celiac disease and type 1 diabetes, among others. Herein, we review the associations between chronic urticaria, thyroid disease, and other autoimmune disorders, as well as the implications that these correlations hold for therapeutic intervention in chronic urticaria.
Topics: Autoimmunity; Chronic Disease; Humans; Thyroid Diseases; Urticaria
PubMed: 24305753
DOI: No ID Found -
Ultrasound in Obstetrics & Gynecology :... Jul 2001Fraser syndrome (cryptophthalmos-syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos,... (Review)
Review
Fraser syndrome (cryptophthalmos-syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos, syndactyly, laryngeal atresia and urogenital defects. Enlarged hyperechogenic lungs contrasted by oligohydramnios, non-visualization of the kidneys and microphthalmia were sonographic markers leading to the prenatal detection of this rare autosomal recessive disorder in earlier reports. We report a case of Fraser syndrome diagnosed at 16 weeks' gestational age in a woman whose previous pregnancy was terminated because of multiple fetal malformations. Abnormal sonographic findings included bilateral agenesis of the kidneys, dilated trachea and main bronchi (suggestive of high airway obstruction), hyperechogenic lungs, syndactyly of the fingers, hepatomegaly, oligohydramnios and hydrops placentae. Face and cerebral structures appeared normal. These findings together with those of the previously affected child led to the diagnosis of Fraser syndrome. The parents elected to terminate the pregnancy. Autopsy results were confirmatory. In conclusion, prenatal diagnosis of Fraser syndrome is possible in the hands of an expert, but due to the great variety of possible malformations the diagnosis will remain doubtful in most cases in which no previous child is affected.
Topics: Abnormalities, Multiple; Adult; Eyelids; Female; Humans; Pregnancy; Syndactyly; Syndrome; Ultrasonography, Prenatal
PubMed: 11489232
DOI: 10.1046/j.1469-0705.2001.00374.x