Title G418 Treatment for The Suppression of a Nonsense Mutation in the X-Linked Intellectual Disability Gene CUL4B School Name Governor's School for Science & Mathematics Presentation Topic Physiology and Health Presentation Type Mentored Abstract Intellectual [scholarexchange.furman.edu]

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals [books.google.de]

Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. [gene.sfari.org]

Congenital heart disease is present in approximately 40%. GI malformations are present in 5%. Congenital cataracts are found in 3%, and as many as 35% require treatment for strabismus or refractive error. Infantile spasms may develop in 5%. [emedicine.medscape.com]

Additional therapies for an NSID syndrome depend upon the specific abnormalities present and generally follow standard guidelines. [rarediseases.org]

Recently, Cooper and colleagues 82 looked at data from 15,767 patients who had undergone array CGH analysis as part of the diagnostic workup. [nejm.org]

Clinical workup of patients with ID should include karyotyping and, if clinically indicated, analysis for specific chromosome (Wolf-Hirschhorn, Angelman, Williams, etc.) or single gene (Noonan syndrome, Kabuki syndrome, etc.) disorders. [karger.com]

Standard Therapies Clinical Testing and Workup Genetic testing provides definitive diagnosis of SYNGAP1 -related NISD. [rarediseases.org]

History of admission to neonatal intensive care unit was significantly higher among the patient group than among the controls ( P Conclusion: Metabolic testing should be considered in the workup of individuals with nonsyndromic ID, which will need further [dovepress.com]

Thus, SYCP3 testing may be considered in the workup for women with recurrent pregnancy loss, and in males with non-obstructive azoospermia. Our laboratory offers DNA sequencing of all coding exons (2-9) of the SYCP3 gene. [chginc.org]

One proposed treatment approach for genetic diseases like syndromic intellectual disability is to suppress the nonsense mutation causing the disease by administering a low molecular weight drug. [scholarexchange.furman.edu]

[…] trio approach using next generation sequencing could explain a consistent percentage of patients with isolated ID, thus increasing our knowledge on the molecular bases of this disease and opening new perspectives for a better diagnosis, counseling, and treatment [moh-it.pure.elsevier.com]

Treatment Like other forms of intellectual disability, there are no known disease-altering treatments for SYNGAP1-related disorders. Current treatment for NSID in general is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

It also helps in initiating the treatment in the earlier stages of development as it will be more effective and will improve the outcome at a later stage. [dovepress.com]

In this Review, we highlight the insights obtained from recent studies on the role of genetics in ID and its impact on diagnosis, prognosis and therapy. [nature.com]

Moreover, such diagnosis often has direct consequences for the medical prognosis of patients or their optimised healthcare, and even (yet in still a minority of cases) can indicate specific therapeutic options. [jmg.bmj.com]

As the data continue to accumulate, our understanding of genes, pathways, and molecular mechanisms will continue to evolve and translate into better diagnosis, prognosis, and therapies for these severe disorders. [nejm.org]

[…] tests include establishing an etiologic diagnosis in patients with neurodevelopmental manifestations but without syndromic features, ending the diagnostic odyssey of many visits to specialists, avoiding other forms of testing, improving understanding of prognosis [effectivehealthcare.ahrq.gov]

The etiology remains unknown in up to 80% of cases with mild intellectual disability. Depending on the underlying etiology, the recurrence risk can vary between the background and 50%. [dnatesting.uchicago.edu]

Etiology is heterogeneous, owing to numerous genetic and environmental factors. Underlying etiology remains undetermined in 75–80% of mildly disabled patients and 20–50% of those severely disabled. [karger.com]

Mental retardation and multiple congenital anomalies of unknown etiology: frequency of occurrence in similarly affected sibs of the proband. Birth Defects Orig Artic Ser 1978; 14: 127-37. 8. [jpma.org.pk]

They were also subjected to general and local examination, with specific attention to dysmorphic features that may suggest genetic or syndromic etiologies. Chromosomal study was done for all cases to exclude syndromic cases. [dovepress.com]

I'll give you one epidemial large scale epidemiological study. [coursera.org]

Epidemiologic and family studies have suggested that the risk associated with CHEK2*1100 del C is modified by other genetic factors in a multiplicative fashion. [science.gov]

The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment. Retard. Dev. Disabil. Res. Rev. 8, 117–134 (2002). 22. Lubs, H. A., Stevenson, R. E. & Schwartz, C. E. [nature.com]

An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt. Clin Genet. 1994;46(5):347–351. 20. Wasant P, Vatanavicharn N, Srisomsap C, Sawangareetrakul P, Liammongkolkul S, Svasti J. [dovepress.com]

The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002; 8: 117-34. 2. Diagnostic and statistical manual of mental disorders. Text revision (DSM-IV-TR). 4th ed. [jpma.org.pk]

X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology [books.google.de]

[…] findings suggest a critical regulatory role for CDKL5 in the formation of excitatory synapses by coupling, through NGL-1 phosphorylation, the Netrin G1-NGL-1 adhesion with the recruitment of PSD95 and thereby provide important molecular insights into the pathophysiology [molgen.mpg.de]

Further Reading Chelly J, Khelfaoui M, Francis F, Cherif B and Bienvenu T (2006) Genetics and pathophysiology of mental retardation. European Journal of Human Genetics 14: 701–713. [els.net]

The pathophysiological processes of MR in the human brain are very complex and, have most probably started already in early pregnancy. [latunisiemedicale.com]

Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis, Biol Chem., 2009, 390, 591-599. PubMed Google Scholar [58] Rafiq M. A., Kuss A. [degruyter.com]

In some cases (eg, phenylketonuria [PKU] and hypothyroidism), retardation is preventable with early treatment. Other disorders (eg, mucopolysaccharidosis and sphingolipidoses) are less responsive to early intervention. [dovepress.com]

He joined the Healthy Mothers, Babies and Children theme in April 2016 after being awarded the Inaugural Channel 7 Children’s Research Foundation Chair for the Prevention of Childhood Disability. [sahmriresearch.org]

Common (but preventable) environmental causes of ID are iodine deficiency and malnutrition (of both mother and child), affecting millions of people in “developing countries”. [f1000research.com]

It is essential that therapies are continued on a year-round basis to promote development of new skills and to prevent regression. Additional medical, social and/or vocational services including special remedial education may be necessary. [rarediseases.org]

Atlanta (GA): Centers for Disease Control and Prevention (CDC); 2013 Dec 26 [accessed 2014 Apr 1]. [4 p]. Available: . Shevell M, Ashwal S, Donley D, et al. [effectivehealthcare.ahrq.gov]