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What’s new in autism?

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Abstract

This review on autism spectrum disorder (ASD) focusses on recent insights in the clinical picture, such as continuity of the phenotype and the concept of broader phenotype, on epidemiology and on clinical issues relevant to physicians, including new methods for early screening and diagnosis, psychiatric and somatic co-morbidity, and the expansion of so-called complementary and alternative treatments. ASD is a disorder with mainly genetic causes and recent insights show that a variety of genetic mechanisms may be involved, i.e. single gene disorders, copy number variations and polygenic mechanisms. Technological advances in genetics have lead to a number of promising findings, which, together with other lines of fundamental research, suggest that ASD may be a disorder of connectivity in the brain, at least in a subgroup of patients. It is possible that part of the genetic load in autism actually reflects gene–environment interaction, but there is no evidence for purely environmental causes in a substantial number of cases. Clinical research suggests that ASD may be a multi-system disorder in at least a subgroup of subjects, affecting the gastro-intestinal (GI) tract, the immune system and perhaps other systems. Behavioural treatments remain the cornerstone of management, and are mainly aimed at stimulation of the domains of impaired development and reducing secondary behaviours. These treatments are constantly being refined, but the main progress in this area may be the increase of research on effectiveness.

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Abbreviations

ADHD:

Attention deficit and hyperactivity disorder

ASD:

Autism spectrum disorder

BAP:

Broader autism phenotype

CAM:

Complementary and alternative medical treatments

CDD:

Childhood disintegrative disorder

DSM-IV:

Diagnostic and statistical manual of mental disorders, 4th edition

GERD:

Gastro-oesophageal reflux disorder

LKS:

Landau-Kleffner syndrome

MEG:

Magnetoencephalography

MNS:

Mirror neuron system

PECS:

Picture exchange communication system

PDD:

Pervasive developmental disorder

PDD-NOS:

Pervasive developmental disorder not otherwise specified

NLD:

Non-verbal learning disability

SLI:

Specific language impairment

TEACCH:

Treatment and Education of Autistic and related Communication-handicapped Children

TSC:

Tuberous sclerosis complex

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Acknowledgements

This research was supported by the Clinical Research Fund of the University Hospital Leuven and by the Flanders Fund for Scientific Research (grant ZKB5798).

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Steyaert, J.G., De La Marche, W. What’s new in autism?. Eur J Pediatr 167, 1091–1101 (2008). https://doi.org/10.1007/s00431-008-0764-4

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