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01.12.2017 | Protocol | Ausgabe 1/2017 Open Access

Systematic Reviews 1/2017

Risk factors for the development of autism spectrum disorder in children with tuberous sclerosis complex: protocol for a systematic review

Zeitschrift:
Systematic Reviews > Ausgabe 1/2017
Autoren:
Rebecca Mitchell, Sarah Barton, A. Simon Harvey, Katrina Williams
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​s13643-017-0448-0) contains supplementary material, which is available to authorized users.

Abstract

Background

Tuberous sclerosis complex (TSC) is an autosomal dominant condition, caused by mutations in either the TSC1 or TSC2 gene. It has widespread systemic manifestations and is associated with significant neurological morbidity. In addition to seizures and cerebral pathology including cortical tubers, subependymal nodules, subependymal giant cell astrocytoma and abnormal white matter, there are recognised neuropsychiatric difficulties including intellectual disability, autism spectrum disorder (ASD) and a range of learning and behaviour problems, recently conceptualised as “tuberous sclerosis-associated neuropsychiatric disorders”, or “TAND”. ASD in TSC is of particular importance because (1) it affects up to 50% of people with TSC and is a source of considerable difficulty for them and their families and (2) it provides a model for considering neurobiological pathways involved in ASD. Multiple factors are implicated in the development of ASD in TSC, including (1) seizures and related electrophysiological factors, (2) cerebral pathology, (3) genotype and (4) child characteristics. However, the neurobiological pathway remains unclear. We will conduct a systematic review to investigate and synthesise existing evidence about the role of these risk factors, individually and in combination, in leading to the development of ASD.

Methods

Our review will report on all studies that include one or more of four predefined risk factors in the development of ASD in children with TSC. We will search five databases: MEDLINE, EMBASE, PubMed, The Cochrane Library and Web of Science (Conference Proceedings Citation Index). Studies will be selected for reporting after two authors independently (1) review all titles and abstracts, (2) read full text of all appropriate papers and (3) assess for bias using the Newcastle-Ottawa Scale recommended by the Guidelines for Meta-Analysis and Systematic Reviews of Observational Studies (MOOSE guidelines) and the ROBINS-I.

Discussion

To our knowledge, this is the first systematic review investigating multiple risk factors in the development of ASD in children with TSC. Clarifying the evidence in this area will be important to researchers in the field and to clinicians providing prognostic information to families.

Systematic review registration

PROSPERO CRD42016042841
Zusatzmaterial
Additional file 1: The full search strategy. (PDF 636 kb)
13643_2017_448_MOESM1_ESM.pdf
Additional file 2: PRISMA-P checklist. (DOC 85 kb)
13643_2017_448_MOESM2_ESM.doc
Literatur
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