scholarly journals The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex

2019 ◽  
Vol 30 (4) ◽  
pp. 2199-2214
Author(s):  
Benoit Scherrer ◽  
Anna K Prohl ◽  
Maxime Taquet ◽  
Kush Kapur ◽  
Jurriaan M Peters ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Face Processing ◽  
Genetic Disorder ◽  
Neuropsychiatric Symptoms ◽  
Autism Spectrum ◽  
The Body ◽  
Fusiform Gyrus ◽  
Benign Tumors ◽  
Anatomical Connectivity

Abstract Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumors throughout the body; it is generally diagnosed early in life and has a high prevalence of autism spectrum disorder (ASD), making it uniquely valuable in studying the early development of autism, before neuropsychiatric symptoms become apparent. One well-documented deficit in ASD is an impairment in face processing. In this work, we assessed whether anatomical connectivity patterns of the fusiform gyrus, a central structure in face processing, capture the risk of developing autism early in life. We longitudinally imaged TSC patients at 1, 2, and 3 years of age with diffusion compartment imaging. We evaluated whether the anatomical connectivity fingerprint of the fusiform gyrus was associated with the risk of developing autism measured by the Autism Observation Scale for Infants (AOSI). Our findings suggest that the fusiform gyrus connectivity captures the risk of developing autism as early as 1 year of age and provides evidence that abnormal fusiform gyrus connectivity increases with age. Moreover, the identified connections that best capture the risk of developing autism involved the fusiform gyrus and limbic and paralimbic regions that were consistent with the ASD phenotype, involving an increased number of left-lateralized structures with increasing age.

TUBEROUS SCLEROSIS: PRESENTATION OF A CASE AND REVIEW OF THE LITERATURE

2021 ◽  
pp. 95-96
Author(s):  
Fabricio Andrés Lasso Andrade ◽  
Jorge Alejandro Cadena Arteaga ◽  
Ángela Maria Fajardo Arteaga ◽  
Viviana Lizeth Echeverry Morillo ◽  
David Alfredo Acevedo Vargas ◽  
...  
Keyword(s):  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Causal Link ◽  
Benign Tumors ◽  
Review Of The Literature ◽  
Dominant Inheritance ◽  
Variable Expression

Tuberous Sclerosis Complex (TSC) also known as Bournneville disease. TSC is a multisystemic genetic disorder with autosomal dominant inheritance, of variable expression, which is mainly characterized by the presence of benign tumors or hamartomas in the nervous system and skin, but which may also be present in the heart, kidney, lung and other organs. The most frequent symptom is epilepsy, affecting 80-90% of patients with TSC which manifests itself in childhood between 1 to 3 years of age. We present a case of sporadic onset tuberous sclerosis with epilepsy that had a causal link with TSC after admission to the emergency room in a convulsive status.

scholarly journals Tuberous sclerosis with cardiac rhabdomyoma: a case report

2017 ◽  
Vol 4 (2) ◽  
pp. 666
Author(s):  
Sunita Arora ◽  
Harnoorjit Kaur Brar ◽  
Prabhjot Kaur Dhillon
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Female Child ◽  
The Body ◽  
Cardiac Rhabdomyoma ◽  
Cardiac Evaluation ◽  
Benign Tumours ◽  
High Index Of Suspicion

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a genetic disorder, caused by mutations on either of two genes TSC1 and TSC2. Clinical manifestations are caused by growth of benign tumours in different parts of the body. Ten months old female child with four major criteria of tuberous sclerosis complex and asymptomatic cardiac rhabdomyoma is presented. A case of TSC warrants cardiac evaluation for the presence of cardiac rhabdomyoma and if a cardiac rhabdomyoma is detected on antenatal ultrasound or postnatal echocardiography, one should have high index of suspicion for the diagnosis of TSC. Continued research on this disease has unfolded many realities regarding its etiology as well as treatment.

scholarly journals Behavioral Symptoms May Correlate With the Load and Spatial Location of Tubers and With Radial Migration Lines in Tuberous Sclerosis Complex

2021 ◽  
Vol 12 ◽  
Author(s):  
Rony Cohen ◽  
Jacob Genizi ◽  
Liora Korenrich
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Neuropsychiatric Symptoms ◽  
Brain Mri ◽  
Spatial Location ◽  
Neuropsychiatric Disorders ◽  
Temporal Area ◽  
Radial Migration ◽  
Parietal Area

Objective: Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous genetic disorder. The clinical manifestations are extensive and include neurological, dermatological, cardiac, ophthalmic, nephrological, and neuropsychiatric manifestations. The prediction and pathophysiology of neuropsychiatric disorders such as emotional symptoms, conduct problems, hyperactivity, and poor social behavior are poorly understood. The aim of the study was to diagnose neuropsychiatric symptoms in individuals with TSC, and to examine their possible correlations with quantity, magnitude, and spatial location of tubers and radial migration (RM) lines.Methods: The cohort comprised 16 individuals with TSC, aged 5–29 years, with normal or low normal intelligence. The participants or their parents were requested to fill Strengths and Difficulties Questionnaire (SDQ) and the TAND (TSC-associated neuropsychiatric disorders) Checklist for assessment of their neuropsychiatric symptoms. Correlations were examined between these symptoms and the magnitude, quantities, and locations of tubers and white matter RM lines, as identified in T2/FLAIR brain MRI scans.Results: The SDQ score for peer relationship problems showed correlation with the tuber load (r = 0.52, p < 0.05). Tuber load and learning difficulties correlated significantly in the temporal and parietal area. Mood swings correlated with tubers in the parietal area (r = 0.529, p < 0.05). RM lines in the temporal area correlated with abnormal total SDQ (r = 0.51, p < 0.05). Anxiety and extreme shyness were correlated with RM lines in the parietal area, r = 0.513, p < 0.05 and r = 0.593, p < 0.05, respectively. Hyperactive/inattention correlated negatively with RM lines in the parietal area (r = −707, p < 0.01).Conclusions: These observations may lead to future studies for precise localization of neuropsychiatric symptoms, thereby facilitating directed therapy.

scholarly journals Case Report on: Tuberous Sclerosis

2021 ◽  
pp. 140-147
Author(s):  
Ruchira Ankar ◽  
Archana Dhengare ◽  
Arti Raut ◽  
Seema Singh ◽  
Samruddhi Gujar
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Hereditary Disease ◽  
Chief Complaint ◽  
Benign Tumors ◽  
Surrounding Area ◽  
Benign Tumours ◽  
Intellectual Incapacity ◽  
The Brain

Introduction: Tuberous sclerosis is a rare hereditary disease that creates noncancerous tumours in the brain, kidneys, heart, liver, eyes, lungs, and skin. Seizures, intellectual incapacity, developmental delays, and behavioral issues are just a few of the warning symptoms. Like Skin problems, and lung and kidney problems. A hereditary mutation in one of two genes causes TSC.TSC1 and TSC2 are two distinct TSC types. The proteins hemartin and tuberin, which act as tumour suppressors and govern cell proliferation and differentiation, are produced by these genes. [1]. Background: Tuberous sclerosis complex (TSC) is a rare genetic disorder that affects 1 in every 6,000 to 1 in every 18,000 people. It's a life-threatening condition caused by the formation of benign tumors/lesions in several organs. Tumors can affect organ growth and/or function and are frequent in the brain, heart, skin, kidneys, and lungs. The number of organs affected, as well as the size of tumours inside each organ, varies greatly. As a result, the disease's symptoms are extremely variable and unexpected [2]. Case Presentation: A 35-year old female admitted to AVBRH on date 25/11/2021 with the chief complaint of fever chills, nausea, vomiting and itching and back skin over mouth and eye surrounding area since in 10 days.   History of Present Illness: Tuberous sclerosis, also known as tuberous sclerosis complex, is a rare genetic disease that causes non-cancerous (benign) tumours in the brain, skin, kidneys, heart, eyes, and lungs. A 35-yearold female admitted to hospital on date 25/11/2020 with the chief complaint was fever chills, nausea, vomiting and itching and back skin over mouth and eye surrounding area since in 4month. Interventions: The patient was treated the patient was started on Injection- Ceftriaxone, 1gm - Intravenous – BD- Antibiotic, Injection- Pan, 40mg – Intravenous- BD – Antacid, Injection- Livipril, 100mg – Intravenous- BD- Anticonvulsant, Injection- Paracetamol, 150mg – Intra muscular- SOS- Antipyretic. Conclusion: During hospital stay with the chief complaint of patient are fever chills, nausea, vomiting and itching and back skin over mouth and eye surrounding area since in 10 days. Her situation was critical, therefore she was brought to AVBR Hospital and treatment was started right away.

scholarly journals Tuberous sclerosis complex associated neuropsychiatric disorder in children: experience sharing from a tertiary care hospital

2021 ◽  
Vol 8 (6) ◽  
pp. 961
Author(s):  
Kanij Fatema ◽  
Mizanur Rahman ◽  
Shaheen Akhter ◽  
Roushan Jahan
Keyword(s):  
Psychiatric Disorders ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Early Onset ◽  
Tertiary Care Hospital ◽  
Genetic Disorder ◽  
Tertiary Care ◽  
Autism Spectrum ◽  
Psychiatric Evaluation ◽  
Care Hospital

Background: Tuberous sclerosis complex (TSC) is a genetic disorder where there is multisystem involvement. Most important manifestations are neurological and psychiatric disorders. These disorders should be detected timely and addressed adequately. The common psychiatric disorders are autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), intellectual disability (ID), learning disorder etc. This study has been done to describe the pattern of psychiatric disorders in children with TSC.Methods: This is an observational study taken place in a tertiary care hospital taken place on Children of 0-18 years of age. The study subjects were 84 patients with TSC. Detail history and physical examination had been done along with neuroimaging, EEG and target organs screening. Different psychometric tool was used for psychiatric evaluation.  Results: Total 84 patients were included in this study, mean age was 7+3.96 years, 54% were female. Physical finding were as follows: ash leaf spot, shagreen patch, adenoma sebaceum, cafe au lait spot, rhabdomyoma, renal cyst and angiomyolipoma etc.  Seventy patients had epilepsy, most common being focal epilepsy (45.7%), 17.1% had epileptic spasm. Fifty percent patients had developmental delay. Regarding psychiatric disorders, most common disorder was ADHD in 27.38%, ASD in 23.81% and both in 10.71%. ID was found in 20.24% study subjects. Early onset of seizure was associated with more psychiatric disorders.Conclusions: Neuropsychiatric manifestations of TSC are diverse and often are poorly addressed. The most commonly found disorders in this study were ADHD, ASD and ID. Early onset of seizure was associated with the psychiatric disorders in TSC.

scholarly journals Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex

2019 ◽  
Author(s):  
Abigail Dickinson ◽  
Kandice J. Varcin ◽  
Mustafa Sahin ◽  
Charles A. Nelson ◽  
Shafali S. Jeste
Keyword(s):  
Brain Development ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Brain Regions ◽  
Autism Spectrum ◽  
Alpha Phase ◽  
Cognitive Outcomes ◽  
Alpha Power ◽  
Network Function

Lay AbstractAround half of infants with tuberous sclerosis complex (TSC) develop autism. Here, using EEG, we find that there is a reduction in communication between brain regions during infancy in TSC, and that the infants who show the largest reductions are those who later develop autism. Being able to identify infants who show early signs of disrupted brain development may improve the timing of early prediction and interventions in TSC, and also help us to understand how early brain changes lead to autism.AbstractTuberous sclerosis complex (TSC) is a rare genetic disorder that confers a high risk for autism spectrum disorders (ASD), with behavioral predictors of ASD emerging early in life. Deviations in structural and functional neuronal connectivity are highly implicated in both TSC and ASD.For the first time, we explore whether electroencephalographic (EEG) measures of network function precede or predict the emergence of ASD in TSC. We determine whether altered brain function (1) is present in infancy in TSC, (2) differentiates infants with TSC based on ASD diagnostic status, and (3) is associated with later cognitive function.We studied 35 infants with TSC (N=35), and a group of typically developing infants (n=20) at 12 and 24 months of age. Infants with TSC were later subdivided into ASD and non-ASD groups based on clinical evaluation. We measured features of spontaneous alpha oscillations (6-12Hz) that are closely associated with neural network development: alpha power, alpha phase coherence (APC) and peak alpha frequency (PAF).Infants with TSC demonstrated reduced interhemispheric APC compared to controls at 12 months of age, and these differences were found to be most pronounced at 24 months in the infants who later developed ASD. Across all infants, PAF at 24 months was associated with verbal and non-verbal cognition at 36 months.Associations between early network function and later neurodevelopmental and cognitive outcomes highlight the potential utility of early scalable EEG markers to identify infants with TSC requiring additional targeted intervention initiated very early in life.

Oral Findings in Children, Adolescents and Adults with Tuberous Sclerosis Complex

2020 ◽  
Vol 44 (3) ◽  
pp. 190-195
Author(s):  
Emil Korporowicz ◽  
Dorota Olczak-Kowalczyk ◽  
Maja Lipiec ◽  
Monika Słowińska ◽  
Dariusz Gozdowski ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Tooth Wear ◽  
Benign Tumors ◽  
Oral Lesions ◽  
Gingival Hyperplasia ◽  
Enamel Defects ◽  
Traumatic Lesions ◽  
Adolescents And Adults

Objectives: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder characterized by the development of benign tumors. The aim of the study was to assess the prevalence of oral lesions in patients with TSC and healthy individuals. Study design: The study included 120 patients aged 1.1 to 42.7 years: 60 patients with TSC and 60 controls. Clinical assessment of oral hygiene (Plaque Index–PLI), gingiva (Gingival Index–GI, Gingival Overgrowth Index–GOI), oral mucosa and dentition (caries, tooth wear, enamel defects) was performed. Statistical analysis was performed. Results: 40 patients with TSC received anticonvulsants. Neglected hygiene (PLI: 1.50±0.96 vs 0.92±0.72), gingival hyperplasia (50.0% vs.1.7%), gingivitis (80.7% vs. 53.4%), oral mucosal fibromas (10.0% vs. 0.0%), mucous membrane traumatic lesions (11.7% vs. 1.7%), enamel pits and hypoplasia of incisal borders (41.7% vs. 6.7%), tooth wear (35.0% vs. 11.7%) were more common in patients with TSC compared to controls; increased gingival hyperplasia was correlated with vigabatrin and levetiracetam treatment (r = 0.266 and 0.279, respectively), gingivitis was correlated with PLI (r= 0.635). Conclusions: Although gingival fibromas in TSC are independent of patient’s age, young age, anticonvulsant therapy and local factors increase their severity. Enamel defects in TSC include pits, but also enamel loss on the incisal edges and tooth wear.

scholarly journals Early developmental pathways to autism spectrum disorder in tuberous sclerosis complex

2016 ◽  
Vol 2 (2) ◽  
pp. 84-93 ◽  
Author(s):  
Charlotte Tye ◽  
Kandice Varcin ◽  
Patrick Bolton ◽  
Shafali Spurling Jeste
Keyword(s):  
Autism Spectrum Disorder ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Developmental Trajectories ◽  
Genetic Disorder ◽  
Familial Risk ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Content Type ◽  
Cascading Effects

Purpose – Tuberous sclerosis complex (TSC) is a genetic disorder with a high prevalence of autism spectrum disorder (ASD), yet no single genetic, neurological or neurophysiological risk marker is necessary or sufficient to increase risk for ASD. This paper aims to discuss the utility of adopting a developmental perspective. Design/methodology/approach – The increasing number of TSC infants presenting with abnormalities prenatally provides a unique opportunity to study risk pathways to ASD from birth. Here, the authors review findings to date that support the investigation of infants with TSC to further our understanding of typical and atypical development. Findings – Evidence has accumulated from studies of infants at familial risk for ASD (“baby siblings”) to suggest that early markers of ASD are present in the first year of life. The early waves of prospective studies of infants with TSC indicate dynamic changes in developmental trajectories to ASD and are likely to provide insight into cascading effects of brain “insult” early in development. Emerging evidence of phenotypic and biological homology between syndromic and idiopathic cases of ASD supports the notion of a convergence of risk factors on a final common pathway in ASD. Originality/value – The delineation of brain-based biomarkers of risk, prediction and treatment response in TSC will be critical in aiding the development of targeted intervention and prevention strategies for those infants at high risk of poorer developmental outcomes.

scholarly journals When Aesthetic Concern Discovered the Mister: A Renal Angiomyolipoma

2020 ◽  
Vol 3 (2) ◽  
pp. 99-101
Author(s):  
Rasso A ◽  
Chaoui R ◽  
Elloudi S ◽  
Baybay H ◽  
Mernissi FZ
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Benign Tumors ◽  
Renal Angiomyolipoma ◽  
Rare Genetic Disorder

Tuberous sclerosis complex (TSC) is a rare genetic disorder that affects about 1 in 5000 individuals worldwide. It does can affect many organs, leading to benign tumors presenting preferentially in the skin, brain, and kidneys [1]. We report the case of a young man with cutaneous angiofibromes who is incidentally diagnosed with renal angiomyolipoma.

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