scholarly journals A Case Review of a Male Chinese Savant Adult with Tuberous Sclerosis Complex and Syndromic Low-Functioning/Non-verbal Autism

2019 ◽  
Vol 2 (1) ◽  
pp. 13-28
Author(s):  
Lyndsey Aik Lwee Goh ◽  
Guohui Xie

This is a case review of a male Chinese adult, BK, who has been previously diagnosed with tuberous sclerosis complex, syndromic low-functioning/non-verbal autistic savantism and intellectual disability. He has the gift of painting and has since produced many works that show he has an eye for detail, color, texture, and stroke application (Camulli, Goh and Chia, 2018). This paper adopts a different perspective to study the case by re-examining BK’s systemizing ability, i.e., his innate drive to analyze or construct any kind of system, and in his case, painting. Systemizing is defined as the ability to follow a certain set of implicit rules that is governing the system in order to predict how that system will behave (Baron-Cohen 2006). In BK’s case, the focus is on his gift of systemizing ability in the cognitive process of acrylic painting using the following cognitive formulation: [input]->[operation]->[output].

2018 ◽  
Vol 3 (2) ◽  
pp. 276-280 ◽  
Author(s):  
Charlotte Tye ◽  
Laura E. Thomas ◽  
Julian R. Sampson ◽  
Julia Lewis ◽  
Finbar O'Callaghan ◽  
...  

2007 ◽  
Vol 11 (1) ◽  
pp. 140-146 ◽  
Author(s):  
Deepak Madhavan ◽  
Howard L. Weiner ◽  
Chad Carlson ◽  
Orrin Devinsky ◽  
Ruben Kuzniecky

Neurology ◽  
2019 ◽  
Vol 93 (2) ◽  
pp. e200-e209 ◽  
Author(s):  
Iris E. Overwater ◽  
André B. Rietman ◽  
Sabine E. Mous ◽  
Karen Bindels-de Heus ◽  
Dimitris Rizopoulos ◽  
...  

ObjectiveTo investigate whether mammalian target of rapamycin inhibitor everolimus can improve intellectual disability, autism, and other neuropsychological deficits in children with tuberous sclerosis complex (TSC).MethodsIn this 12-month, randomized, double-blind, placebo-controlled trial, we attempted to enroll 60 children with TSC and IQ <80, learning disability, special schooling, or autism, aged 4–17 years, without intractable seizures to be assigned to receive everolimus or placebo. Everolimus was titrated to blood trough levels of 5–10 ng/mL. Primary outcome was full-scale IQ; secondary outcomes included autism, neuropsychological functioning, and behavioral problems.ResultsThirty-two children with TSC were randomized. Intention-to-treat analysis showed no benefit of everolimus on full-scale IQ (treatment effect −5.6 IQ points, 95% confidence interval −12.3 to 1.0). No effect was found on secondary outcomes, including autism and neuropsychological functioning, and questionnaires examining behavioral problems, social functioning, communication skills, executive functioning, sleep, quality of life, and sensory processing. All patients had adverse events. Two patients on everolimus and 2 patients on placebo discontinued treatment due to adverse events.ConclusionsEverolimus did not improve cognitive functioning, autism, or neuropsychological deficits in children with TSC. The use of everolimus in children with TSC with the aim of improving cognitive function and behavior should not be encouraged in this age group.Clinicaltrials.gov identifierNCT01730209.Classification of evidenceThis study provides Class I evidence that for children with TSC, everolimus does not improve intellectual disability, autism, behavioral problems, or other neuropsychological deficits.


Author(s):  
James C. Harris

Although intellectual disability has been recognized since antiquity, interest in its classification did not develop until the nineteenth century, when it became apparent that intellectual disability is not one homogeneous category, as was previously thought, but has many causes. Moreover, it became apparent that intervention could be beneficial and that interventions might be tailored for specific disorders. Early authors prepared the way for modern efforts to differentiate specific conditions that differ in both etiology and pathology, yet all result in intellectual disability. Some attempts were misguided. J. Langdon Hayden Down, in his ethnic classification (1866; Jordan, 2000), sought to classify based on the physical appearance of the individuals he examined. His goal was to absolve parents of self-blame for the handicap by emphasizing a constitutional basis for their child’s disorder. He proposed an “ethnic classification,” suggesting that the various forms of intellectual disability represented regressions to stereotypical racial forms (e.g., mongoloid, Aztec). Although he later abandoned this unfortunate idea, he continues to be known for it. Still, he is credited with drawing scientific attention to the syndrome bearing his name (Jordan, 2000) and for suggesting that the best classification is one based on etiology. Subsequently, he anticipated current efforts at classification by describing three major groups: (1) congenital, which included microcephalic, macrocephalic, hydrocephalic, epileptic, and paralytic types; (2) developmental, with a vulnerability to mental breakdown with stress during a developmental crisis; and (3) accidental (caused by injury or illness). Later, William Weatherspoon Ireland (1877), in his textbook on intellectual disability, suggested 10 subdivisions. Among these are genetous (congential), microcephalic, epileptic, eclamptic, hydrocephalic, paralytic, traumatic, inflammatory, cretinism, and idiocy by social and physical deprivation. In 1880, tuberous sclerosis complex was identified by Désiré-Maglione Bourneville (1880), who established that intellectual disability might result from brain pathology. Subsequently, many other intellectual disability syndromes were recognized. Thus began a new era, with investigators searching for clearly defined disorders associated with intellectual disability; these were commonly named after their discoverers. It was an era when intellectual disability syndromes were beginning to be recognized, but medicine had little to offer therapeutically.


2021 ◽  
Vol 8 ◽  
pp. 2329048X2110128
Author(s):  
Daad Alsowat ◽  
Robyn Whitney ◽  
Stacy Hewson ◽  
Puneet Jain ◽  
Valerie Chan ◽  
...  

Objective: We aimed to further elucidate the phenotypic spectrum of Tuberous Sclerosis Complex (TSC) depending on genotype. Methods: A retrospective review of patients seen in the TSC clinic at the Hospital for Sick Children was conducted and the frequency of TSC manifestations was compared based on genotype. Results: Nineteen-patients had TSC1 mutations, 36 had TSC2 mutations and 11 had no mutation identified (NMI). Patients with TSC2 mutations had a higher frequency of early-onset epilepsy and more frequent systemic manifestations. The NMI group had milder neurologic and systemic manifestations. Our data did not demonstrate that intellectual disability and infantile spasms were more common in TSC2 mutations. Conclusions: This is the first Canadian pediatric cohort exploring the genotype-phenotype relationship in TSC. We report that some manifestations are more frequent and severe in TSC2 mutations and that NMI may have a milder phenotype. Disease surveillance and counseling should continue regardless of genotype until this is better elucidated.


Intelligence ◽  
2009 ◽  
Vol 37 (2) ◽  
pp. 174-180 ◽  
Author(s):  
Chunshui Yu ◽  
Fuchun Lin ◽  
Li Zhao ◽  
Jing Ye ◽  
Wen Qin

Author(s):  
Michael Wong

Abstract Background Tuberous sclerosis complex (TSC) is a genetic disorder characterized by severe neurological manifestations, including epilepsy, intellectual disability, autism, and a range of other behavioral and psychiatric symptoms, collectively referred to as TSC-associated neuropsychiatric disorders (TAND). Various tumors and hamartomas affecting different organs are the pathological hallmarks of the disease, especially cortical tubers of the brain, but specific cellular and molecular abnormalities, such as involving the mechanistic target of rapamycin (mTOR) pathway, have been identified that also cause or contribute to neurological manifestations of TSC independent of gross structural lesions. In particular, while neurons are immediate mediators of neurological symptoms, different types of glial cells have been increasingly recognized to play important roles in the phenotypes of TSC. Main body This review summarizes the literature supporting glial dysfunction from both mouse models and clinical studies of TSC. In particular, evidence for the role of astrocytes, microglia, and oligodendrocytes in the pathophysiology of epilepsy and TAND in TSC is analyzed. Therapeutic implications of targeting glia cells in developing novel treatments for the neurological manifestations of TSC are also considered. Conclusions Different 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.


2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Claudia Ioana Borțea ◽  
Vlad Laurentiu David ◽  
Florina Stoica ◽  
Cezara Mureșan ◽  
Marioara Boia

Tuberous sclerosis complex is a multisystemic genetic disorder with high phenotypical variability. Its progress frequently brings along autism (61%), epilepsy, intellectual disability (45%), and neurocognitive impairment (Gipson and Johnston, 2017). We are considering the case of an infant suspected with tuberous sclerosis complex by imagistic investigation in the prenatal period. The pre- and postnatal ultrasound, fetal MRI, ophthalmoscopy, and dermatological and neurological examinations were used for diagnosis and follow-up. The seven major and minor criteria were regarded as sufficient for accurate diagnosis.


Author(s):  
C Wilbur ◽  
C Sanguansermsri ◽  
H Chable ◽  
A Mihaela ◽  
MB Connolly

Background: Recent consensus recommendations for Tuberous Sclerosis Complex (TSC) stress the importance of multidisciplinary follow-up for these patients. The objective of our study was to review the manifestations of TSC seen in our hospital to determine the care needs of this population. Methods: This was a systematic, retrospective chart review of children with TSC treated at our institution. Patients were identified through epilepsy and clinical neurophysiology databases. Results: The study population comprised 81 patients, born between 1987-2014, who were a median 10 (Range 0.2-23.2) years of age at last follow-up. 88% of patients had epilepsy, including 30% with a history of infantile spasms. Developmental delay was reported in 65%, while 40% had intellectual disability. Psychiatric co-morbidities occurred in 49%. The most common psychiatric diagnoses were autism (25%), ADHD (19%), and anxiety (16%). Cardiac rhabdomyomas occurred in 35% of patients and renal angiomyolipomas in 42%, while only 4% had polycystic kidneys. Subependymal giant cell astrocytomas were observed in 14% of patients. 86% had skin manifestations. Conclusions: This study reaffirms the multi-system manifestations of TSC and the need to provide comprehensive, multidisciplinary care. As many children are still very young, the prevalence of autism and intellectual disability is likely underestimated.


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