Provision of Genetic Services for Autism and its Impact on Spanish Families

Marta Codina-Solà,Ivon Cuscó,Luis A Pérez-Jurado,Clara Serra-Juhé

doi:10.1007/s10803-017-3203-4

Abstract

Although a genetic evaluation can identify the etiology in 15–30% of individuals with autism spectrum disorder, several studies show an underuse of genetic services by affected families. We have explored the access to genetic services and perception of genetics and recurrence risk in parents of autistic children in Spain. Despite the high interest in genetics, our results show a remarkable underutilization of genetic services, with only 30% of families having visited a genetic service and 13% of patients having undergone the recommended genetic test. This poor service provision influenced recurrence risk perception and had a great impact on family planning. The National Health System should ensure their access to genetic services allowing them to take informed decisions with precise information.

Highlights

Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders characterized by impairments in three main domains: communication, social interaction and behavior
They are estimated to affect 1 in 68 to 256 children in developed countries, with a male to female ratio of 5:1 (Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators and Centers for Disease Control and Prevention (CDC) 2014; Taylor et al 2013). They are among the most inheritable neurodevelopmental disorders, with concordance rates of 60% between monozygotic twin pairs for classic autism, that increase to 90% when considering the broader autistic phenotype (BAP; Bailey et al 1995; Folstein and Rutter 1977; Lichtenstein et al 2010; Ritvo et al 1985; Ronald and Hoekstra 2011; Rosenberg et al 2009; Steffenburg et al 1989; Taniai et al 2008)
Genetic factors involved in ASD comprise all type of genetic variation: chromosomal alterations, triplet expansions, de novo or rare inherited single nucleotide variants (SNVs), and deletions and duplications, known as copy number variants (CNVs)

Summary

Introduction

Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders characterized by impairments in three main domains: communication, social interaction and behavior They are estimated to affect 1 in 68 to 256 children in developed countries, with a male to female ratio of 5:1 (Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators and Centers for Disease Control and Prevention (CDC) 2014; Taylor et al 2013). ASD present a high degree of genetic heterogeneity, involving various types of genetic variation that might follow several modes of inheritance

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