scholarly journals Sleep disorders and neuropsychiatric disorders in a pediatric sample of tuberous sclerosis complex: a questionnaire-based study

2021 ◽  
Author(s):  
Romina Moavero ◽  
Alessandra Voci ◽  
Francesca La Briola ◽  
Sara Matricardi ◽  
Irene Toldo ◽  
...  
Keyword(s):  
Sleep Disorders ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Neuropsychiatric Disorders

scholarly journals Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders

2017 ◽  
Vol 4 (12) ◽  
pp. 877-887 ◽  
Author(s):  
Darcy A. Krueger ◽  
Anjali Sadhwani ◽  
Anna W. Byars ◽  
Petrus J. de Vries ◽  
David N. Franz ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Neuropsychiatric Disorders

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.

Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders and Parental Stress: Findings from a National, Prospective TSC Surveillance Study

2019 ◽  
Vol 50 (05) ◽  
pp. 294-299
Author(s):  
Daniel Ebrahimi-Fakhari ◽  
Justine Hussong ◽  
Marina Flotats-Bastardas ◽  
Darius Ebrahimi-Fakhari ◽  
Michael Zemlin ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Developmental Delay ◽  
Tuberous Sclerosis Complex ◽  
Parental Stress ◽  
Child Behavior Checklist ◽  
Screening Tool ◽  
Psychiatric Symptoms ◽  
Neuropsychiatric Disorders ◽  
Stress Factors ◽  
Surveillance Study

Abstract Aim To assess the role of the TAND (tuberous sclerosis complex [TSC] associated neuropsychiatric disorders) checklist as a screening tool for neuropsychiatric pathology, to evaluate behavioral and psychiatric symptoms and related parental stress in children with TSC, and to analyze associations between parental stress, TAND findings, and TSC pathology. Method This is a prospective cohort study including 22 individuals from a national TSC surveillance study in Germany using demographic and clinical data, the TAND checklist, the Child Behavior Checklist (CBCL), and the Parenting Stress Index (PSI). Results Mean (standard deviation) age at follow-up was 4 years (3 years 9 months), and 13/22 of patients were male. Seventeen children had epilepsy (focal: 9; generalized: 4; infantile spasms: 4). Developmental delay was diagnosed in 12/22 patients. The most prevalent TAND items were anxiety and mood swings in 10/22 children. At least one TAND item was reported by 17/22 patients, internalizing symptoms by 10/22, and externalizing symptoms by 11/22. In contrast, only one patient had a clinically relevant score in the CBCL scales. Of 22 parents, 12 reported clinically relevant parental stress due to both child and parenting factors. Higher total parental stress was associated with a higher TAND externalizing score (r = 0.49; p = 0.028) and TAND total score (r = 0.51; p = 0.016), a higher CBCL total score (r = 0.59; p = 0.005), and the number of antiepileptic drugs (r = 0.50; p = 0.017). Developmental delay was correlated with child stress factors (r = 0.48; p = 0.023). Interpretation The TAND checklist appears to be a promising screening tool for neuropsychiatric problems in very young children with TSC. Parental stress in children with TSC is modified by TSC-related pathology, both neuropsychiatric and neurological.

scholarly journals Manifestations of Tuberous Sclerosis Complex: The Experience of a Provincial Clinic

2016 ◽  
Vol 44 (1) ◽  
pp. 35-43 ◽  
Author(s):  
Colin Wilbur ◽  
Chinnuwat Sanguansermsri ◽  
Hedi Chable ◽  
Mihaela Anghelina ◽  
Sharon Peinhof ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Wide Spectrum ◽  
Neuropsychiatric Disorders ◽  
Care Needs ◽  
Neurocutaneous Disorder ◽  
Hospital Patients ◽  
History Of ◽  
Study Population

AbstractBackground: Tuberous sclerosis complex (TSC) is a neurocutaneous disorder with a wide spectrum of manifestations. Recent consensus recommendations stress the importance of multidisciplinary management of children with TSC. The objective of this study was to examine the manifestations of TSC at a large referral centre to determine the care needs of this population. Methods: A retrospective, systematic chart review was performed of children with TSC managed at British Columbia Children’s Hospital. Patients were identified through epilepsy and clinical neurophysiology databases. Results: The study population comprised 81 patients, born between 1987 and 2014, who were a median of 10 years (range, 0.2-23.2) at most recent follow-up. Epilepsy occurred in 91% of patients, including 32% with a history of infantile spasms. Nineteen patients underwent epilepsy surgery, nine (47%) of whom were seizure-free at most recent follow-up. Overall, 61% of epilepsy patients had been seizure-free for at least 1 year at the time of last follow-up. Neuropsychiatric disorders were diagnosed in 49% of children, with autism (25%), attention deficit hyperactivity order (19%) and anxiety (16%) being the most common. Cardiac rhabdomyomata occurred in 35% of children and renal angiomyolipomas were seen in 43%. A total of 91% had skin manifestations. Conclusion: This study outlines the multisystem manifestations of TSC, observed through a large pediatric referral center. Epilepsy and neuropsychiatric disorders are the major source of morbidity in this age group and provide many challenges to the treating clinician. Because a subset of the study population is still quite young, the prevalence of neuropsychiatric disorders is likely underestimated.

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