scholarly journals Assessment of tuberous sclerosis-associated neuropsychiatric disorders using the MINI-KID tool: a pediatric cohort study

2021 ◽  
Author(s):  
Yifeng Ding ◽  
Ji Wang ◽  
Hao Zhou ◽  
Taoli Li ◽  
Shuizhen Zhou ◽  
...  

Abstract Background: Tuberous sclerosis-associated neuropsychiatric disorders (TANDs) have not been studied before in China. We aimed to assess the psychiatric level of TAND using the Mini International Neuropsychiatric Interview for Children (MINI-KID) in China.Results: A total of 83.16% of patients (79/95) had at least one TAND, and 70.53% (67/95) had an intellectual disability. The MINI-KID tool diagnosed a total of 16 neuropsychiatric diseases, the most common of which were attention-deficit/hyperactivity disorder (ADHD) (51.58%, 49/95) and social anxiety disorder (41.05%, 39/95). The number of children with neuropsychiatric diseases in the TSC group was significantly greater than the number in the normal development group (p <0.0001). Epilepsy before the age of 2 years, a seizure frequency of more than once a month, and the use of more than 2 antiepileptic drugs were closely associated with the occurrence of TAND.Conclusion: The MINI-KID can be used as a standardized tool to examine the psychiatric level of TANDs in children with TSC aged 6-16 years. The rate of neuropsychiatric diseases in children with TSC reached 83.16%. Early onset of epilepsy, frequent seizures, and refractory epilepsy are risk factors for TAND. Early, reasonable, and rapid control of seizures is related to reducing the risk of neuropsychiatric illness in children with epilepsy.

2020 ◽  
Author(s):  
Yifeng Ding ◽  
Ji Wang ◽  
Hao Zhou ◽  
Taoli Li ◽  
Shuizhen Zhou ◽  
...  

Abstract Background: The tuberous sclerosis-associated neuropsychiatric disorders (TAND) has not been studied before in China. We aimed to assess TAND using the Mini International Neuropsychiatric Interview for Children (MINI-KID) in China.Results: A total of 81.05% of patients (77/95) had at least one TAND, and 70.53% (67/95) had an intellectual disability. The MINI-KID tool diagnosed a total of 15 neuropsychiatric diseases, the most common of which were attention-deficit/hyperactivity disorder (ADHD) (51.58%, 49/95) and social anxiety disorder (41.05%, 39/95). The number of children with neuropsychiatric diseases in the TSC group was significantly greater than the numbers in the normal development group (P <0.0001). Epilepsy before the age of 2 years, an epilepsy duration exceeding 2 years, a seizure frequency of more than once a month, and use of more than 2 antiepileptic drugs were closely associated the occurrence of TAND.Conclusion: The MINI-KID can be used for the screening and diagnosis of TAND in children with TSC aged 6-16 years. The incidence of neuropsychiatric diseases in children with TSC can arrive at 81.05%. Early onset of epilepsy, long duration of epilepsy, frequent seizures, and refractory epilepsy are risk factors for TAND. Early, reasonable, and rapid control of seizures may reduce the risk of neuropsychiatric illness in children with epilepsy.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Yifeng Ding ◽  
Ji Wang ◽  
Hao Zhou ◽  
Taoli Li ◽  
Shuizhen Zhou ◽  
...  

Abstract Background The tuberous sclerosis-associated neuropsychiatric disorders (TAND) have not previously been studied in China. We aimed to assess the psychiatric level of individuals with TAND using the Mini International Neuropsychiatric Interview for Children (MINI-KID) in China. Results A total of 83.16% of individuals (79/95) had at least one TAND, and 70.53% (67/95) had an intellectual disability. The MINI-KID tool diagnosed 16 neuropsychiatric diseases, the most common of which were attention-deficit/hyperactivity disorder (ADHD) (51.58%, 49/95) and social anxiety disorder (30.53%, 29/95). The number of children with psychiatric diseases in the tuberous sclerosis complex (TSC) group was significantly greater than the number in the typically developing group (P < 0.0001). Notably, 69.47% (66/95) had two or more psychiatric disorders. Pervasive developmental disorder (PDD) was often co-morbid with other psychiatric disorders. Conclusions This study used the structured and systematic MINI-KID scale to determine the diagnosis of psychiatric co-morbidities in a relatively large sample, suggesting a higher rate. By comparing the status of individuals with TSC with typically developing children, the results suggests that neuropsychiatric co-morbidities are significantly higher in individuals with TSC. Research has revealed the frequent presence of two, three or more neuropsychiatric diseases in individuals with TSC.


2021 ◽  
Vol 11 (9) ◽  
pp. 1199
Author(s):  
Olivia O. F. Williams ◽  
Madeleine Coppolino ◽  
Susan R. George ◽  
Melissa L. Perreault

Dopamine is an important neurotransmitter that plays a key role in neuropsychiatric illness. Sex differences in dopaminergic signaling have been acknowledged for decades and have been linked to sex-specific heterogeneity in both dopamine-related behaviours as well as in various neuropsychiatric disorders. However, the overall number of studies that have evaluated sex differences in dopamine signaling, both in health and in these disorders, is low. This review will bring together what is known regarding sex differences in innate dopamine receptor expression and function, as well as highlight the known sex-specific roles of dopamine in addiction, depression, anxiety, schizophrenia, and attention deficit hyperactivity disorder. Due to differences in prognosis, diagnosis, and symptomatology between male and female subjects in disorders that involve dopamine signaling, or in responses that utilize pharmacological interventions that target dopamine receptors, understanding the fundamental sex differences in dopamine receptors is of vital importance for the personalization of therapeutic treatment strategies.


Author(s):  
Tiffany M. Shader ◽  
Theodore P. Beauchaine

As described in the literature for many years, a sizable number of children with hyperactive-impulsive and combined subtypes/presentations of attention-deficit/hyperactivity disorder (ADHD)—especially males—progress to more serious externalizing syndromes across development. Such outcomes include oppositional defiant disorder, conduct problems, delinquency, substance use disorders, and in some cases antisocial personality disorder, incarceration, and recidivism. This chapter summarizes a developmental model that emphasizes different contributions of trait impulsivity, a highly heritable, subcortically mediated vulnerability, versus emotion dysregulation, a highly socialized, cortically mediated vulnerability, to externalizing progression. According to this perspective, trait impulsivity confers vulnerability to all externalizing disorders, but this vulnerability is unlikely to progress beyond ADHD in protective environments. In contrast, for children who are reared under conditions of adversity—including poverty, family violence, deviant peer influences, and neighborhood violence/criminality—neurodevelopment of prefrontal cortex structure and function is compromised, resulting in failures to achieve age-expected gains in emotion regulation and other forms of executive control. For these children, subcortical vulnerabilities to trait impulsivity are amplified by deficient cortical modulation, which facilitates progression along the externalizing spectrum.


2021 ◽  
pp. 1-55
Author(s):  
Siu Wa Tang ◽  
Daiga Helmeste ◽  
Brian Leonard

Abstract Neuropsychiatric sequalae to COVID-19 infection are beginning to emerge, like previous Spanish influenza and SARS episodes. Streptococcal infection in pediatric patients causing OCD (PANDAS) is another recent example of an infection-based psychiatric disorder. Inflammation associated with neuropsychiatric disorders has been previously reported but there is no standard clinical management approach established. Part of the reason is that it is unclear what factors determine the specific neuronal vulnerability and the efficacy of anti-inflammatory treatment in neuroinflammation. The emerging COVID-19 data suggested that in the acute stage, wide-spread neuronal damage appears to be the result of abnormal and overactive immune responses and cytokine storm is associated with poor prognosis. It is still too early to know if there are long term specific neuronal or brain regional damages associated with COVID-19, resulting in distinct neuropsychiatric disorders. In several major psychiatric disorders where neuroinflammation is present, patients with abnormal inflammatory markers may also experience less than favorable response or treatment resistance when standard treatment is used alone. Evidence regarding the benefits of co-administered anti-inflammatory agents such as COX-2 inhibitor is encouraging in selected patients though may not benefit others. Disease modifying therapies are increasingly being applied to neuropsychiatric diseases characterized by abnormal or hyperreactive immune responses. Adjunct anti-inflammatory treatment may benefit selected patients and is definitely an important component of clinical management in the presence of neuroinflammation.


F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 859 ◽  
Author(s):  
Tanjala T. Gipson ◽  
Michael V. Johnston

Tuberous sclerosis complex (TSC) is a multi-system disorder resulting from mutations in either the TSC1 or TSC2 genes leading to hyperactivation of mechanistic target of rapamycin (mTOR) signaling. TSC is commonly associated with autism (61%), intellectual disability (45%), and behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties that are collectively referred to as TSC-associated neuropsychiatric disorders (TAND). More than 90% of children with TSC have epilepsy, including infantile spasms, and early onset of seizures, especially infantile spasms, is associated with greater impairment in intellectual development compared with individuals with TSC without seizures. Development of the mTOR inhibitors everolimus and sirolimus has led to considerable progress in the treatment of renal angiomyolipomata, pulmonary lymphangioleiomyomatosis, and subependymal giant cell astrocytomas in the brain. However, similar therapeutic progress is needed in the treatment of TAND.


2019 ◽  
Vol 72 (7) ◽  
pp. 1359-1363
Author(s):  
Marcin Zarzycki ◽  
Magdalena Flaga-Łuczkiewicz ◽  
Joanna Czuwara ◽  
Lidia Rudnicka

Systemic lupus erythematosus (SLE) is a chronic multiorgan autoimmune disease belonging to spectrum of interest of many medical specialties. Wide range of patients 14−75% with SLE suffers from neuropsychiatric disorders. The problematic diagnosis of neuropsychiatric SLE has generated many studies focusing on etiology of the disease with the presence of specific autoantibodies, abnormalities which can be detected by imaging examinations or correlation with catecholamine levels. The aim of this review paper is to discuss the frequency of neuropsychiatric disturbances in patients with SLE and their potential association with immunological abnormalities and specific disease markers. So far published literature regarding this topic indicates the usefulness of autoantibodies specificity. The use of the specific antibodies may be helpful in targeting diagnostics towards psychiatric disorders, especially depressive ones. Imaging scanning techniques such as computed tomography (CT) have limited value in psychiatric disorders diagnosis but can be useful in neurological symptoms and complains. Therapeutic use of systemic glucocorticosteroids due to anti-inflammatory properties with multidirectional action, may also significantly influence the course of neuropsychiatric diseases, especially in patients with SLE. Awareness of the morbidity of neuropsychiatric disorders and the possibilities of their diagnosis are important in the management of patients with systemic lupus erythematosus, which significantly affects the quality of life of patients, treatment efficacy and psyche.


2013 ◽  
Vol 104 (3) ◽  
pp. 269-274 ◽  
Author(s):  
Melanie Jennesson ◽  
Agnies M. van Eeghen ◽  
Paul A. Caruso ◽  
Jan L. Paolini ◽  
Elizabeth A. Thiele

2020 ◽  
Vol 22 (1) ◽  
pp. 73-84 ◽  
Author(s):  
Emma van der Poest Clement ◽  
Floor E. Jansen ◽  
Kees P. J. Braun ◽  
Jurriaan M. Peters

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