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Gutierrez, Griselda; Smalley, Susan L.; Tanguay, Peter E.

doi:10.1023/a:1026032413811

Cited by 85 publications

(17 citation statements)

References 23 publications

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“…Eighty five percent of those with TS have central nervous system complications including epilepsy, cognitive impairment, and behavioral problems [171]. The comorbidity of autism diagnosis and TS is 29% [172, 173], though more than 50% of TS patients report some autism-like features [174]. TS results from inactivating mutations in either TSC1 or TSC2 encoding for either hamartin or tuberin, respectively [175, 176].…”

Section: Spine Dysgenesis In Autism Related Disordersmentioning

confidence: 99%

Dendritic spine dysgenesis in autism related disorders

Phillips

Pozzo-Miller

2015

Neuroscience Letters

151

133

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The activity-dependent structural and functional plasticity of dendritic spines has led to the long-standing belief that these neuronal compartments are the subcellular sites of learning and memory. Of relevance to human health, central neurons in several neuropsychiatric illnesses, including autism related disorders, have atypical numbers and morphologies of dendritic spines. These so-called dendritic spine dysgeneses found in individuals with autism related disorders are consistently replicated in experimental mouse models. Dendritic spine dysgenesis reflects the underlying synaptopathology that drives clinically relevant behavioral deficits in experimental mouse models, providing a platform for testing new therapeutic approaches. By examining molecular signaling pathways, synaptic deficits, and spine dysgenesis in experimental mouse models of autism related disorders we find strong evidence for mTOR to be a critical point of convergence and promising therapeutic target.

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Section: Spine Dysgenesis In Autism Related Disordersmentioning

confidence: 99%

Dendritic spine dysgenesis in autism related disorders

Phillips

Pozzo-Miller

2015

Neuroscience Letters

151

133

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“…The hypomelanotic skin disorders that have been reported to occur co-morbidly with autism include oculocutaneous albinism (41, 42, 43), hypomelanosis of Ito (44, 45), tuberous sclerosis (14, 46, 47), Angelman syndrome (48, 49, 50, 51) and Prader-Willi syndrome (51, 52, 53). …”

Section: Hypomelanotic Skin Disorders and Autismmentioning

confidence: 99%

Association of hypomelanotic skin disorders with autism: links to possible etiologic role of vitamin-D levels in autism?

Bakare¹,

Münir²,

Kinney³

2011

HYP

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“…Epilepsy is one of the major issues in TSC [ 4 ] and is considered a potential risk factor for ASD in TSC patients, especially when epilepsy starts early and with infantile spasms. Several reports have indicated infantile spasms as risk factors for developing autism in children with TSC [ 5 , 6 ]. However, infantile spasms are not a sufficient cause of ADS, suggesting that a common neurobiological mechanism can lead to both infantile spasms and ASD [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

“…The localization of cortical tubers was identified as another risk factor for developing ASD in TSC patients: both frontal and temporal tubers were associated with ASD, and cyst-like cortical tubers were more common in patients with TSC and ASD [ 8 ]. Finally, intellectual disability (ID) is considered another risk factor for ASD in patients with TSC [ 5 , 9 ]. Interestingly, correlations between ASD and genotype are emerging, and TSC2 mutations seem to be more frequently associated with ASD, regardless the mutation type [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

Vignoli

Briola

Peron

et al. 2015

Orphanet J Rare Dis

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BackgroundNeuropsychiatric disorders are present in up to 90 % of patients with Tuberous Sclerosis Complex (TSC), and represent an important issue for families. Autism Spectrum Disorder (ASD) is the most common neurobehavioral disease, affecting up to 61 % of patients. The aims of this study were: 1) to assess the prevalence of ASD in a TSC population; 2) to describe the severity of ASD; 3) to identify potential risk factors associated with the development of ASD in TSC patients.MethodsWe selected 42 individuals over age 4 years with a definite diagnosis of TSC and followed at a TSC clinic in Northern Italy. We collected and reported clinical and genetic data, as well as cognitive level, for each of them. We administered the Social Communication Questionnaire (SCQ) as a reliable screening tool for ASD, and performed comparisons between the average scores and each clinical and genetic feature.ResultsSeventeen out of 42 patients (40.5 %) had a score at the SCQ suggestive of ASD (≥15 points). When calculated for each cognitive level category, the average SCQ score tended to be progressively higher in patients with a worse cognitive level, and the number of pathological SCQ scores increased with worsening of intellectual disability. With respect to ASD severity, the scores were equally distributed, indicating that the degree of ASD in TSC patients may have a large variability. By comparing the average SCQ scores with the clinical features, we found statistically significant correlations with epilepsy, seizure onset before age one year, spasms, mutations in TSC2, cognitive level, sleep disorders, and other psychiatric problems, but not with seizure frequency, tubers localization and gender.ConclusionsOur study showed a prevalence of ASD of 40.5 %, confirming the higher risk for this disorder in patients with TSC. However, the severity seems to have a notable variability in TSC patients. Risk factors for ASD are epilepsy, infantile spams, and mutations in TSC2.

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Untitled

Cited by 85 publications

References 23 publications

Dendritic spine dysgenesis in autism related disorders

Dendritic spine dysgenesis in autism related disorders

Association of hypomelanotic skin disorders with autism: links to possible etiologic role of vitamin-D levels in autism?

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

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