Literature DB >> 28003905

Coexistence of Autism Spectrum Disorders Among Three Children with Tuberous Sclerosis Complex: Case reports and review of literature.

Amna Al-Futaisi1, Ahmed Idris1, Abeer Al-Sayegh2, Watfa S Al-Mamari1.   

Abstract

Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the brain and other vital organs such as the heart, eyes, kidneys, skin and lungs. Links between autism spectrum disorder (ASD) and TSC have been postulated for many decades, with TSC considered to be one of the main syndromic causes of ASD; however, precise confirmation of a relationship between these two disorders required validated diagnostic tools. Fortunately, accurate evaluation of this relationship is now possible with standardised criteria for ASD diagnosis. We report three children who presented to the Sultan Qaboos University Hospital, Muscat, Oman, between 2014 and 2015 with ASD and TSC. These cases demonstrate the spectrum of neuropsychiatric involvement in TSC and highlight the importance of screening children with TSC for ASD features in order to encourage the early enrolment of these children in educational and rehabilitation programmes.

Entities:  

Keywords:  Autism Spectrum Disorder; Case Report; Oman; Tuberous Sclerosis

Year:  2016        PMID: 28003905      PMCID: PMC5135470          DOI: 10.18295/squmj.2016.16.04.022

Source DB:  PubMed          Journal:  Sultan Qaboos Univ Med J        ISSN: 2075-051X


  22 in total

1.  Psychiatric comorbidity and treatment response in patients with tuberous sclerosis complex.

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Journal:  Ann Clin Psychiatry       Date:  2011-11       Impact factor: 1.567

2.  Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex.

Authors:  C Joinson; F J O'Callaghan; J P Osborne; C Martyn; T Harris; P F Bolton
Journal:  Psychol Med       Date:  2003-02       Impact factor: 7.723

Review 3.  Autism and tuberous sclerosis.

Authors:  Max Wiznitzer
Journal:  J Child Neurol       Date:  2004-09       Impact factor: 1.987

Review 4.  Autism spectrum disorders and autistic traits: a decade of new twin studies.

Authors:  Angelica Ronald; Rosa A Hoekstra
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2011-01-13       Impact factor: 3.568

Review 5.  Evolving neurobiology of tuberous sclerosis complex.

Authors:  Peter B Crino
Journal:  Acta Neuropathol       Date:  2013-02-06       Impact factor: 17.088

6.  Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis.

Authors:  Dan Ehninger; Sangyeul Han; Carrie Shilyansky; Yu Zhou; Weidong Li; David J Kwiatkowski; Vijaya Ramesh; Alcino J Silva
Journal:  Nat Med       Date:  2008-06-22       Impact factor: 53.440

Review 7.  Identification and evaluation of children with autism spectrum disorders.

Authors:  Chris Plauché Johnson; Scott M Myers
Journal:  Pediatrics       Date:  2007-10-29       Impact factor: 7.124

8.  Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis.

Authors:  Sek Won Kong; Mustafa Sahin; Christin D Collins; Mary H Wertz; Malcolm G Campbell; Jarrett D Leech; Dilja Krueger; Mark F Bear; Louis M Kunkel; Isaac S Kohane
Journal:  Mol Autism       Date:  2014-02-24       Impact factor: 7.509

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.  TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex.

Authors:  John C Kingswood; Paolo Bruzzi; Paolo Curatolo; Petrus J de Vries; Carla Fladrowski; Christoph Hertzberg; Anna C Jansen; Sergiusz Jozwiak; Rima Nabbout; Matthias Sauter; Renaud Touraine; Finbar O'Callaghan; Bernard Zonnenberg; Stefania Crippa; Silvia Comis; Guillaume Beaure d'Augères; Elena Belousova; Tom Carter; Vincent Cottin; Maria Dahlin; José Carlos Ferreira; Alfons Macaya; Mirjana Perkovic Benedik; Valentin Sander; Sotirios Youroukos; Ramon Castellana; Bulent Ulker; Martha Feucht
Journal:  Orphanet J Rare Dis       Date:  2014-11-26       Impact factor: 4.123

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  2 in total

1.  Re: Coexistence of Autism Spectrum Disorders Among Three Children with Tuberous Sclerosis Complex: Case reports and review of literature.

Authors:  Mahmood D Al-Mendalawi
Journal:  Sultan Qaboos Univ Med J       Date:  2017-03-30

2.  Diagnostic features of tuberous sclerosis complex: case report and literature review.

Authors:  Sultan Abdulwadoud Alshoabi; Abdullgabbar M Hamid; Fahad H Alhazmi; Abdulaziz A Qurashi; Osamah M Abdulaal; Khaled M Aloufi; Tareef S Daqqaq
Journal:  Quant Imaging Med Surg       Date:  2022-01
  2 in total

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