Rett Syndrome

Rett Syndrome ◽

Clinical Phenotype ◽

Autism Spectrum ◽

Mecp2 Gene ◽

Spectrum Disorders ◽

Andreas Rett

Rett Syndrome (RTT) is a neurodevelopmental disorder that predominantly affects females but males with RTT have been identified. RTT was first described by an Austrian pediatrician, Andreas Rett. Rett syndrome was mapped to chromosome Xq28 in 1998 and a year later it was determined to be due to mutations in the MeCP2 gene at this locus. Identification of the gene led to the broadening of the clinical phenotype and further characterization into classic and atypical forms of the disease that overlap with Autism spectrum disorders during the period of regression. More than 95% of individuals with classic RTT have mutations in the MeCP2 gene.

Fatty Acids and Autism Spectrum Disorders: The Rett Syndrome Conundrum

Food and Nutrition Sciences ◽

10.4236/fns.2013.49a1012 ◽

2013 ◽

Vol 04 (09) ◽

pp. 71-75 ◽

Cited By ~ 3

Author(s):

Claudio De Felice ◽

Cinzia Signorini ◽

Silvia Leoncini ◽

Alessandra Pecorelli ◽

Thierry Durand ◽

...

Keyword(s):

Fatty Acids ◽

Rett Syndrome ◽

Autism Spectrum ◽

Spectrum Disorders

Dysregulated brain immunity and neurotrophin signaling in Rett syndrome and autism spectrum disorders

Journal of Neuroimmunology ◽

10.1016/j.jneuroim.2014.12.003 ◽

2015 ◽

Vol 279 ◽

pp. 33-38 ◽

Cited By ~ 35

Author(s):

Theoharis C. Theoharides ◽

Marianna Athanassiou ◽

Smaro Panagiotidou ◽

Robert Doyle

Keyword(s):

Rett Syndrome ◽

Autism Spectrum ◽

Spectrum Disorders ◽

Neurotrophin Signaling

Autism spectrum disorders: Unbiased functional connectomics provide new insights into a multifaceted neurodevelopmental disorder

Connectomics ◽

10.1016/b978-0-12-813838-0.00001-7 ◽

2019 ◽

pp. 1-25

Author(s):

Archana Venkataraman

Keyword(s):

Autism Spectrum ◽

Spectrum Disorders

Rett Syndrome: On Clinical and Genetic Features, and Experimental Models Based on MeCP2 Dysfunction

10.1093/med/9780199744312.003.0005 ◽

2013 ◽

Author(s):

Gaston Calfa ◽

Alan K. Percy ◽

Lucas Pozzo-Miller

Keyword(s):

Rett Syndrome ◽

Autism Spectrum ◽

Experimental Models ◽

Genetic Features ◽

Spectrum Disorders ◽

Genetic Bases

Chapter 5 reviews the features of Rett syndrome (RTT) and its genetic bases, as well as the role of MECP2 in neurodevelopment at the clinical as well as molecular and cellular levels, exploring potential neurobiological mechanisms shared with other autism spectrum disorders.

The Gut Microbiota and Oxidative Stress in Autism Spectrum Disorders (ASD)

Oxidative Medicine and Cellular Longevity ◽

10.1155/2020/8396708 ◽

2020 ◽

Vol 2020 ◽

pp. 1-13

Author(s):

Tingting Hu ◽

Yinmiao Dong ◽

Caixia He ◽

Mingyi Zhao ◽

Qingnan He

Keyword(s):

Oxidative Stress ◽

Autism Spectrum ◽

Mucosal Barrier ◽

Autistic Children ◽

Early Assessment ◽

Assessment And Treatment ◽

Spectrum Disorders ◽

And Oxidative Stress

Autism spectrum disorders (ASDs) are a kind of neurodevelopmental disorder with rapidly increasing morbidity. In recent years, many studies have proposed a possible link between ASD and multiple environmental as well as genetic risk factors; nevertheless, recent studies have still failed to identify the specific pathogenesis. An analysis of the literature showed that oxidative stress and redox imbalance caused by high levels of reactive oxygen species (ROS) are thought to be integral parts of ASD pathophysiology. On the one hand, this review aims to elucidate the communications between oxidative stress, as a risk factor, and ASD. As such, there is also evidence to suggest that early assessment and treatment of antioxidant status are likely to result in improved long-term prognosis by disturbing oxidative stress in the brain to avoid additional irreversible brain damage. Accordingly, we will also discuss the possibility of novel therapies regarding oxidative stress as a target according to recent literature. On the other hand, this review suggests a definite relationship between ASD and an unbalanced gastrointestinal tract (GIT) microbiota (i.e., GIT dysbiosis). A variety of studies have concluded that the intestinal microbiota influences many aspects of human health, including metabolism, the immune and nervous systems, and the mucosal barrier. Additionally, the oxidative stress and GIT dysfunction in autistic children have both been reported to be related to mitochondrial dysfunction. What is the connection between them? Moreover, specific changes in the GIT microbiota are clearly observed in most autistic children, and the related mechanisms and the connection among ASD, the GIT microbiota, and oxidative stress are also discussed, providing a theory and molecular strategies for clinical practice as well as further studies.

Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations

Nature Communications ◽

10.1038/s41467-021-25532-4 ◽

2021 ◽

Vol 12 (1) ◽

Author(s):

Elliott Rees ◽

Hugo D. J. Creeth ◽

Hai-Gwo Hwu ◽

Wei J. Chen ◽

Ming Tsuang ◽

...

Keyword(s):

Neurodevelopmental Disorders ◽

Developmental Disorders ◽

De Novo ◽

Autism Spectrum ◽

Increase Risk ◽

Spectrum Disorders ◽

Using Data ◽

Shared Risk

AbstractPeople with schizophrenia are enriched for rare coding variants in genes associated with neurodevelopmental disorders, particularly autism spectrum disorders and intellectual disability. However, it is unclear if the same changes to gene function that increase risk to neurodevelopmental disorders also do so for schizophrenia. Using data from 3444 schizophrenia trios and 37,488 neurodevelopmental disorder trios, we show that within shared risk genes, de novo variants in schizophrenia and neurodevelopmental disorders are generally of the same functional category, and that specific de novo variants observed in neurodevelopmental disorders are enriched in schizophrenia (P = 5.0 × 10−6). The latter includes variants known to be pathogenic for syndromic disorders, suggesting that schizophrenia be included as a characteristic of those syndromes. Our findings imply that, in part, neurodevelopmental disorders and schizophrenia have shared molecular aetiology, and therefore likely overlapping pathophysiology, and support the hypothesis that at least some forms of schizophrenia lie on a continuum of neurodevelopmental disorders.

MTHFR Gene C677T Polymorphism in Autism Spectrum Disorders

Genetics Research International ◽

10.1155/2014/698574 ◽

2014 ◽

Vol 2014 ◽

pp. 1-5 ◽

Cited By ~ 5

Author(s):

Elif Funda Sener ◽

Didem Behice Oztop ◽

Yusuf Ozkul

Keyword(s):

Autism Spectrum ◽

Mthfr Gene ◽

C677t Polymorphism ◽

Autistic Children ◽

Dsm V ◽

Pcr Rflp ◽

Spectrum Disorders ◽

Genetic And Environmental Factors

Aim. Autism is a subgroup of autism spectrum disorders, classified as a heterogeneous neurodevelopmental disorder and symptoms occur in the first three years of life. The etiology of autism is largely unknown, but it has been accepted that genetic and environmental factors may both be responsible for the disease. Recent studies have revealed that the genes involved in the folate/homocysteine pathway may be risk factors for autistic children. In particular, C677T polymorphism in the MTHFR gene as a possible risk factor for autism is still controversial. We aimed to investigate the possible effect of C677T polymorphism in a Turkish cohort. Methods. Autism patients were diagnosed by child psychiatrists according to DSM-IV and DSM-V criteria. A total of 98 children diagnosed as autistic and 70 age and sex-matched children who are nonautistic were tested for C677T polymorphism. This polymorphism was studied by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods. Results. MTHFR 677T-allele frequency was found to be higher in autistic children compared with nonautistic children (29% versus 24%), but it was not found statistically significant. Conclusions. We conclude that other MTHFR polymorphisms such as A1298C or other folate/homocysteine pathway genes may be studied to show their possible role in autism.

Association of Autism Spectrum Disorders With Neonatal Hyperbilirubinemia

Global Pediatric Health ◽

10.1177/2333794x15596518 ◽

2015 ◽

Vol 2 ◽

pp. 2333794X1559651 ◽

Cited By ~ 4

Author(s):

Luis E. Lozada ◽

Cade M. Nylund ◽

Gregory H. Gorman ◽

Elizabeth Hisle-Gorman ◽

Christine R. Erdie-Lalena ◽

...

Keyword(s):

Confidence Interval ◽

Odds Ratio ◽

Autism Spectrum ◽

Unknown Etiology ◽

Military Health ◽

Spectrum Disorders ◽

Procedure Codes ◽

The Military

Autism spectrum disorders (ASD) are a common neurodevelopmental disorder of unknown etiology. Studies suggest a link between autism and neonatal jaundice. A 1:3 matched case–control study was conducted with children enrolled in the Military Health System born between October 2002 and September 2009. Diagnostic and procedure codes were used for identifying ASD and hyperbilirubinemia. Two definitions for hyperbilirubinemia were evaluated: an inpatient admission with a diagnosis of jaundice and treatment with phototherapy. A total of 2917 children with ASD and 8751 matched controls were included in the study. After adjustment, there remained an association between ASD in children and an admission with a diagnosis of jaundice (odds ratio = 1.18; 95% confidence interval = 1.06-1.31; P = .001) and phototherapy treatment (odds ratio = 1.33; 95% confidence interval = 1.04-1.69; P = .008). Children who develop ASD are more likely to have an admission with a diagnosis of jaundice in the neonatal period and more likely to require treatment for this jaundice.

Lactonase Activity and Lipoprotein-Phospholipase A2as Possible Novel Serum Biomarkers for the Differential Diagnosis of Autism Spectrum Disorders and Rett Syndrome: Results from a Pilot Study

Oxidative Medicine and Cellular Longevity ◽

10.1155/2017/5694058 ◽

2017 ◽

Vol 2017 ◽

pp. 1-9 ◽

Cited By ~ 12

Author(s):

Joussef Hayek ◽

Carlo Cervellati ◽

Ilaria Crivellari ◽

Alessandra Pecorelli ◽

Giuseppe Valacchi

Keyword(s):

Rett Syndrome ◽

Roc Analysis ◽

Brain Dysfunction ◽

Autism Spectrum ◽

Serum Biomarkers ◽

Paraoxonase 1 ◽

Pairwise Comparisons ◽

Spectrum Disorders ◽

Operator Curve

Rett syndrome (RTT) and autism spectrum disorders (ASDs) are not merely expression of brain dysfunction but also reflect the perturbation of physiological/metabolic homeostasis. Accordingly, both disorders appear to be associated with increased vulnerability to toxicants produced by redox imbalance, inflammation, and pollution, and impairment of systemic-detoxifying agents could play a role in the exacerbation of these detrimental processes. To check this hypothesis, the activities of two mechanistically related blood-based enzymes, paraoxonase-1 (arylesterase, paraoxonase, and lactonase), and lipoprotein-associated phospholipase A2(Lp-PLA2) were measured in the serum of 79 ASD and 95 RTT patients, and 77 controls. Lactonase and Lp-PLA2showed a similar trend characterized by significantly lower levels of both activities in ASD compared to controls and RTT (p<0.001for all pairwise comparisons). Noteworthy, receiving operator curve (ROC) analysis revealed that lactonase and, mostly, Lp-PLA2were able to discriminate between ASD and controls (lactonase: area under curve, AUC = 0.660; Lp-PLA2, AUC = 0.780), and, considering only females, between ASD and RTT (lactonase, AUC = 0.714; Lp-PLA2, AUC = 0.881). These results suggest that lactonase and, especially, Lp-PLA2activities might represent novel candidate biomarkers for ASD.

Red blood cells in Rett syndrome: oxidative stress, morphological changes and altered membrane organization

Biological Chemistry ◽

10.1515/hsz-2015-0117 ◽

2015 ◽

Vol 396 (11) ◽

pp. 1233-1240 ◽

Cited By ~ 10

Author(s):

Lucia Ciccoli ◽

Claudio De Felice ◽

Silvia Leoncini ◽

Cinzia Signorini ◽

Alessio Cortelazzo ◽

...

Keyword(s):

Rett Syndrome ◽

Morphological Changes ◽

Single Gene ◽

Gene Mutations ◽

Autism Spectrum ◽

Current Evidence ◽

Loss Of Function ◽

Beneficial Effects ◽

Spectrum Disorders

Abstract In this review, we summarize the current evidence on the erythrocyte as a previously unrecognized target cell in Rett syndrome, a rare (1:10 000 females) and devastating neurodevelopmental disorder caused by loss-of-function mutations in a single gene (i.e. MeCP2, CDKL5, or rarely FOXG1). In particular, we focus on morphological changes, membrane oxidative damage, altered membrane fatty acid profile, and aberrant skeletal organization in erythrocytes from patients with typical Rett syndrome and MeCP2 gene mutations. The beneficial effects of ω-3 polyunsaturated fatty acids (PUFAs) are also summarized for this condition to be considered as a ‘model’ condition for autism spectrum disorders.