Literature DB >> 30117265

A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).

Petrus J de Vries1, Lucy Wilde2, Magdalena C de Vries1, Romina Moavero3,4, Deborah A Pearson5, Paolo Curatolo3.   

Abstract

Tuberous sclerosis complex (TSC) is associated with a wide range of behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties, which are often underdiagnosed and undertreated. Here, we present a clinical update on TSC-associated neuropsychiatric disorders, abbreviated as "TAND," to guide screening, diagnosis, and treatment in practice. The review is aimed at clinical geneticists, genetic counselors, pediatricians, and all generalists involved in the assessment and treatment of children, adolescents and adults with TSC, and related disorders. The review starts with a summary of the construct and levels of TAND, before presenting up-to-date information about each level of investigation. The review concludes with a synopsis of current and future TAND research.
© 2018 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals, Inc.

Entities:  

Keywords:  ADHD; TANDTSC; anxiety; autism spectrum disorder; behavior; depression; mental health; neuropsychological deficits; scholastic difficulties

Mesh:

Year:  2018        PMID: 30117265      PMCID: PMC6209538          DOI: 10.1002/ajmg.c.31637

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN: 1552-4868            Impact factor:   3.908


  78 in total

1.  Neuropsychological attention skills and related behaviours in adults with tuberous sclerosis complex.

Authors:  Kevin M Tierney; Deborah L McCartney; Jaco R Serfontein; Petrus J de Vries
Journal:  Behav Genet       Date:  2010-12-30       Impact factor: 2.805

2.  Caring for Children With Tuberous Sclerosis Complex: What Is the Physical and Mental Health Impact on Caregivers?

Authors:  Anne M Rentz; Anne M Skalicky; Chris L Pashos; Zhimei Liu; Matthew Magestro; Corey L Pelletier; Judith A Prestifilippo; JoAnne Nakagawa; Michael D Frost; David W Dunn; James W Wheless
Journal:  J Child Neurol       Date:  2015-04-02       Impact factor: 1.987

3.  Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Authors:  S L Dabora; S Jozwiak; D N Franz; P S Roberts; A Nieto; J Chung; Y S Choy; M P Reeve; E Thiele; J C Egelhoff; J Kasprzyk-Obara; D Domanska-Pakiela; D J Kwiatkowski
Journal:  Am J Hum Genet       Date:  2000-12-08       Impact factor: 11.025

Review 4.  Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review.

Authors:  Lindsay Hallett; Talia Foster; Zhimei Liu; Marissa Blieden; Joice Valentim
Journal:  Curr Med Res Opin       Date:  2011-06-21       Impact factor: 2.580

5.  Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex.

Authors:  Patrick F Bolton; Rebecca J Park; J Nicholas P Higgins; Paul D Griffiths; Andrew Pickles
Journal:  Brain       Date:  2002-06       Impact factor: 13.501

6.  Cognitive and adaptive development of patients with tuberous sclerosis complex: a retrospective, longitudinal investigation.

Authors:  Agnies M van Eeghen; Catherine J Chu-Shore; Margaret B Pulsifer; Susana E Camposano; Elizabeth A Thiele
Journal:  Epilepsy Behav       Date:  2011-11-17       Impact factor: 2.937

7.  Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins.

Authors:  Ho Tin Wong; Deborah L McCartney; Julia C Lewis; Julian R Sampson; Christopher J Howe; Petrus J de Vries
Journal:  J Med Genet       Date:  2015-09-25       Impact factor: 6.318

8.  Follow-up of genetic linkage findings on chromosome 16p13: evidence of association of N-methyl-D aspartate glutamate receptor 2A gene polymorphism with ADHD.

Authors:  D Turic; K Langley; S Mills; M Stephens; D Lawson; C Govan; N Williams; M Van Den Bree; N Craddock; L Kent; M Owen; M O'Donovan; A Thapar
Journal:  Mol Psychiatry       Date:  2004-02       Impact factor: 15.992

9.  Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.

Authors:  Darcy A Krueger; Hope Northrup
Journal:  Pediatr Neurol       Date:  2013-10       Impact factor: 3.372

10.  Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers.

Authors:  Kate E Eden; Petrus J de Vries; Jo Moss; Caroline Richards; Chris Oliver
Journal:  J Neurodev Disord       Date:  2014-05-10       Impact factor: 4.025

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  29 in total

1.  Effects of Extended-Release Methylphenidate Treatment on Cognitive Task Performance in Children with Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder.

Authors:  Deborah A Pearson; Cynthia W Santos; Michael G Aman; L Eugene Arnold; David M Lane; Katherine A Loveland; Rosleen Mansour; Anthony R Ward; Charles D Casat; Susan Jerger; Russell J Schachar; Oscar G Bukstein; Lynne A Cleveland
Journal:  J Child Adolesc Psychopharmacol       Date:  2020-07-09       Impact factor: 2.576

2.  Ketogenic Diet Therapy for Drug-Resistant Epilepsy and Cognitive Impairment in Children With Tuberous Sclerosis Complex.

Authors:  Yu Fang; Dan Li; Man Wang; Xia Zhao; Jing Duan; Qiang Gu; Baomin Li; Jian Zha; Daoqi Mei; Guangbo Bian; Man Zhang; Huiting Zhang; Junjie Hu; Liu Yang; Lifei Yu; Hua Li; Jianxiang Liao
Journal:  Front Neurol       Date:  2022-05-24       Impact factor: 4.086

3.  Abnormal activation of Yap/Taz contributes to the pathogenesis of tuberous sclerosis complex.

Authors:  Bethany K Terry; Raehee Park; Seo-Hee Cho; Peter B Crino; Seonhee Kim
Journal:  Hum Mol Genet       Date:  2022-06-22       Impact factor: 5.121

Review 4.  Current Approaches and Future Directions for the Treatment of mTORopathies.

Authors:  Vasiliki Karalis; Helen S Bateup
Journal:  Dev Neurosci       Date:  2021-04-28       Impact factor: 2.984

5.  Involvement of mental health professionals in the treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND): results of a multinational European electronic survey.

Authors:  Robert Waltereit; Guillaume Beaure d'Augères; Jasna Jancic; John Chris Kingswood; Maya Koleva; Ruben Marques; Vicente Villanueva; Stéphane Auvin
Journal:  Orphanet J Rare Dis       Date:  2021-05-12       Impact factor: 4.123

6.  Postnatal Cytomegalovirus Infection May Increase the Susceptibility of Tuberous Sclerosis Complex to Autism Spectrum Disorders.

Authors:  Xiao-Yan Yang; Yang-Yang Wang; Yue-Peng Zhou; Jing He; Meng-Jie Mei; Meng-Na Zhang; Bin Wang; Wen-Jing Zhou; Min-Hua Luo; Qiu-Hong Wang; Zhong-Yuan Li; Yong Xu; Qian Lu; Li-Ping Zou
Journal:  Microbiol Spectr       Date:  2022-04-25

7.  A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report.

Authors:  Stéphane Auvin; John J Bissler; Vincent Cottin; Ayataka Fujimoto; Günther F L Hofbauer; Anna C Jansen; Sergiusz Jóźwiak; Larissa Kerecuk; J Christopher Kingswood; Romina Moavero; Roser Torra; Vicente Villanueva
Journal:  Orphanet J Rare Dis       Date:  2019-04-30       Impact factor: 4.123

8.  Tuberous Sclerosis (tsc2+/-) Model Eker Rats Reveals Extensive Neuronal Loss with Microglial Invasion and Vascular Remodeling Related to Brain Neoplasia.

Authors:  Viera Kútna; Libor Uttl; Robert Waltereit; Zdenka Krištofiková; Daniel Kaping; Tomáš Petrásek; Cyril Hoschl; Saak V Ovsepian
Journal:  Neurotherapeutics       Date:  2020-01       Impact factor: 7.620

9.  The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1.

Authors:  Francesca Cervi; Veronica Saletti; Katherine Turner; Angela Peron; Sara Bulgheroni; Matilde Taddei; Francesca La Briola; Maria Paola Canevini; Aglaia Vignoli
Journal:  Orphanet J Rare Dis       Date:  2020-09-07       Impact factor: 4.123

10.  Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype.

Authors:  Petrus J de Vries; Elena Belousova; Mirjana P Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D'Amato; Guillaume Beaure d'Augères; José C Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; John A Lawson; Alfons Macaya; Ruben Marques; Rima Nabbout; Finbar O'Callaghan; Jiong Qin; Valentin Sander; Matthias Sauter; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; John C Kingswood; Anna C Jansen
Journal:  Front Neurol       Date:  2020-07-07       Impact factor: 4.003

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