Getting Quality Autism Therapy From Thousands of Miles Away

TUESDAY, Feb. 25, 2020 -- By the time he was 7 months old, John Michael Crawford had been diagnosed with a rare genetic disorder called tuberous sclerosis, associated with a high risk of developmental delays, including autism. Early intervention...
Source: Drugs.com - Daily MedNews - Category: General Medicine Source Type: news

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Authors: Uysal SP, Sahin M Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in With the advent of genetic and molecular techniques, mutations in TSC1 or TSC2 genes were discovered to be responsible for mTOR overactivation, which is the underlying mechanism of pathogenesis. TSC is a highly heterogenous clinical entity with variable presentations and severity of disease. The brain, heart, skin, eyes, kidneys, and lungs are commonly involved in this syndrome, with the neurologic symptoms comprising a significant source of mo...
Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
Tuberous sclerosis complex (TSC) is an autosomal dominant, neurocutaneous disorder due to mutations of either the TSC1 (located on the chromosome 9q34 and encodes for hamartin) or TSC2 (located in the chromosome 16p13.3 and encodes for tuberin) gene. Besides multiorgan and system dysfunction from tubers, various neuropsychiatric features, including autism, are extremely common and debilitating features of TSC. Despite the high prevalence of autism in TSC, in only the last ten years significant progress has been made to prospectively calculate the prevalence of autism in TSC population, to identify early clinical and neurop...
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Review Article Source Type: research
Tuberous sclerosis complex (TSC) is a rare genetic syndrome that confers risk for neurodevelopmental disorders, including autism spectrum disorder and intellectual disability. Delays in social communication and early cognitive abilities are observable as early as 9 months of age in children with TSC; however, there have been no studies of early behavioral intervention in TSC. We conducted a pilot study of an evidence-based, parent-mediated behavioral intervention focused on improving early social communication and play skills in 5 children with TSC (aged 1–3 years). Participants showed maintenance and sometimes gains...
Source: Infants and Young Children - Category: Child Development Tags: Original Research/Study Source Type: research
AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by epilepsy, intellectual disability, and benign tumors of the brain, heart, skin, and kidney. Animal models have contributed to our understanding of normal and abnormal human brain development, but the construction of models that accurately recapitulate a human pathology remains challenging. Recent advances in stem cell biology with the derivation of human-induced pluripotent stem cells (hiPSCs) from somatic cells from patients have opened new avenues to the study of TSC. This approach combined with gene-editing tools such as CRISPR/C...
Source: Molecular Autism - Category: Molecular Biology Source Type: research
AbstractCHD8, which encodes Chromodomain helicase DNA-binding protein 8, is one of a few well-established Autism Spectrum Disorder (ASD) genes. Over 60 mutations have been reported in subjects with variable phenotypes, but little is known concerning genotype –phenotype correlations. We have identified four novel de novo mutations in Chinese subjects: two nonsense variants (c.3562C>T/p.Arg1188X, c.2065C>A/p.Glu689X), a splice site variant (c.4818-1G>A) and a missense variant (c.3502T>A/p.Tyr1168Asn). Three of these were identified from a 445-member ASD cohort by ASD gene panel sequencing of the 96 subjects...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
ConclusionThe design and implementation of more scalable methods to disseminate research remotely can substantially improve access to clinical trials in rare neurodevelopmental disorders. The lessons learned from this trial can serve as a model for future studies not only in rare conditions, but in other populations that lack adequate access, such as families with limited financial or clinical resources. Continued efforts will further refine delivery methods to enhance efficiency and ease of these delivery systems for families.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
ConclusionAnalysis of language variables and epilepsy characteristics from 6 to 36 months and ASD diagnosis at 36 months revealed significant relationships between all three variables. While the direction of these relationships needs further research, epilepsy, language, and the development of ASD are integrally related in young children with TSC.
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
CONCLUSION: Analysis of language variables and epilepsy characteristics from 6 to 36 months and ASD diagnosis at 36 months revealed significant relationships between all three variables. While the direction of these relationships needs further research, epilepsy, language, and the development of ASD are integrally related in young children with TSC. PMID: 31864941 [PubMed - as supplied by publisher]
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
ConclusionsDifferent types of glial cells have both cell autonomous effects and interactions with neurons and other cells that are involved in the pathophysiology of the neurological phenotype of TSC. Targeting glial-mediated mechanisms may represent a novel therapeutic approach for epilepsy and TAND in TSC patients.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
ConclusionsUnderconnectivity across multiple white matter fiber bundles develops over the first 2 years of life in subjects with TSC and ASD. Future studies examining brain-behavior relationships are needed to determine how variation in the brain structure is associated with ASD symptoms.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
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