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Unspoken Words (Blum and Shipon-Blum)

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While the personal cause remains unknown for most cerebral palsy cases, researchers now know that only a tiny percentage of cerebral palsy cases arise from birth-related complications, such as lack of oxygen. It's scientifically accepted that cerebral palsy usually arises from a series of causal pathways - sequences of events that combine to cause or accelerate injury to the developing brain.

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While the personal cause remains unknown for most cerebral palsy cases, researchers now know that only a tiny percentage of cerebral palsy cases arise from birth-related complications, such as lack of oxygen. It's scientifically accepted that cerebral palsy usually arises from a series of causal pathways - sequences of events that combine to cause or accelerate injury to the developing brain.

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Orphanet Journal of Rare Diseases 14, Article number: 121 (2019) Cite this article

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Abstract

Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness and social disinhibition, often defined as "overfriendliness" and "hyersociability". WBS is generally considered as the polar opposite phenotype to Autism Spectrum Disorder (ASD). Surprisingly, the prevalence of ASD has been reported to be significantly higher in WBS (12%) than in general population (1%). Our study aims to investigate the molecular basis of the peculiar association of ASD and WBS. We performed chromosomal microarray analysis and whole exome sequencing in six patients presenting with WBS and ASD, in order to evaluate the possible presence of chromosomal or gene variants considered as pathogenic.

Our study shows that the presence of ASD in the recruited WBS patients is due to i) neither atypically large deletions; ii) nor the presence of pathogenic variants in genes localized in the non-deleted 7q11.23 allele which would unmask recessive conditions; iii) moreover, we did not identify a second, indisputable independent genetic diagnosis, related to pathogenic Copy Number Variations or rare pathogenic exonic variants in known ID/ASD causing genes, although several variants of unknown significance were found. Finally, imprinting effect does not appear to be the only cause of autism in WBS patients, since the deletions occurred in alleles of both maternal and paternal origin.

The social disinhibition observed in WBS does not follow common social norms and symptoms overlapping with ASD, such as restricted interests and repetitive behavior, can be observed in "typical" WBS patients: therefore, the terms "overfriendliness" and "hypersociability" appear to be a misleading oversimplification.

The etiology of ASD in WBS is likely to be heterogeneous. Further studies on large series of patients are needed to clarify the observed variability in WBS social communication, ranging from excessive talkativeness and social disinhibition to absence of verbal language and social deficit.

Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome clinically characterized by typical facies, vascular involvement including arterial stenosis and hypertension, and global developmental delay. The prevalence of WBS is reported to be about 1/7500 [ 1]. This condition is caused by a 7q11.23 microdeletion of 1.4-1.55 megabases (Mb) (about 90-95% of patients) or 1.84 Mb (about 5-10% of patients), including 26-28 genes [ 1].

WBS patients generally show a neurological involvement including mild to moderate ID, attention problems, difficulties in visuospatial construction, anxiety and phobias. The hallmarks of the typical WBS neurocognitive profile are excessive talkativeness and social disinhibition, often defined as "overfriendliness" and "hyersociability" [ 1]; hence, WBS is generally considered as the polar opposite phenotype to Autism Spectrum Disorder (ASD) [ 2]. Among the genes included in the WBS critical region, GTF2I is a strong candidate to explain the typical WBS neurocognitive profile [ 3, 4].

Surprisingly, some WBS patients have been reported to show severe ASD [ 2, 5] and, overall, the prevalence of ASD has been reported to be significantly higher in WBS (12%) than in general population (1%) [ 6]. Our study aims to investigate the molecular basis of the peculiar association of ASD and WBS.

We recruited 6 patients with WBS and ASD. The diagnosis of WBS was confirmed by fluorescent in situ hybridization. All patients met formal ASD criteria. The diagnosis of ASD was set by clinical psychiatric assessment according to ICD-10 (International Classification of Diseases, World Health Organization, Genève, Switzerland, 1993) and DSM-5 (American Psychiatric Association, Washington, D.C., United States, 2013) and confirmed by standard direct evaluation scales (Autism Diagnostic Observation Schedule/ADOS scale for patients 1-4 and Childhood Autism Rating Scale/CARS for patients 5 and 6) (Table 1) and parental interviews (Autism Diagnostic Interviews-ADI/ADI-R for patients 1-5). This approach, combining information from multiple sources based on a clinical assessment and the administration of the ADOS/CARS/ADI improves the confidence in the diagnosis of ASD. All patients exhibited symptoms from the social affect and restricted/repetitive behaviors domains and were considered as impaired in all dimensions of ASD, avoiding biases due to WBS characteristics rather than to ASD profile [ 7]. Parental samples were available for 5/6 patients. All parents were asymptomatic. Fragile X syndrome molecular analysis was negative in all patients. Families gave written informed consent and the study was approved by the ethical committee of our institution (IRB 11263).

Table 1 Main features of patients affected by Williams Beuren syndrome (WBS) and Autism Spectrum Disorder (ASD)

We made a few alternative hypotheses to explain the occurrence of ASD in a subset of WBS patients: i) atypically large 7q11.23 deletions including additional genes, as previously reported [ 8]; ii) rare pathogenic variants in genes located within the deletion, in particular GTF2I, on the basis of its previous specific association to ASD (PMID: 22048961) and its overriding role in the molecular impact of 7q11.23 Copy Number Variations (CNVs) [ 4, 5]; iii) additional pathogenic CNVs or rare intragenic pathogenic variants located in other chromosomal regions with various inheritance patterns (autosomal recessive, X-linked, de novo autosomal dominant); given the small number of patients recruited, we focused on rare exonic variants considered to be pathogenic according to the criteria of the American College of Medical Genetics and Genomics (ACMG) [ 9].

In order to evaluate these hypotheses, we performed chromosomal microarray analysis (CMA) in the 6 index patients and whole exome sequencing (WES) in five trios (WBS patients and their unaffected parents) and one single patient (patient 3, whose parental samples were not available). For 4 patients (patients 1, 2, 3 and 6) CMA was performed with a custom 244 K microarray (Agilent Technologies, Santa Clara, CA, USA) enriched in oligonucleotides in the critical region for the WBS (28,147 oligonucleotides were spotted in the 7q11.23 region between position: 67558714-79,837,248 pb (hg19)). For patients 4 and 5, CMA was performed with a 105 K microarray (Agilent Technologies) and a Constitutional Chip 4.0 BAC array (Perkin Elmer, Wellesley, MA, USA) respectively. CMA procedures were performed in accordance with the manufacturer's instructions. For WES, genomic DNA was captured using Agilent in-solution enrichment methodology (SureSelect Human All Exon Kits Version 5, Agilent) with their biotinylated oligonucleotides probes library (Human All Exon v5-50 Mb, Agilent), followed by paired-end 75 bases massively parallel sequencing on Illumina HiSEQ 2500. The bioinformatic analyses were performed using Papillyon, an in-house script which follows the Broad Institute recommendations. Briefly, the reads were trimmed with Trimmomatic and aligned against the hg19 version of the human genome using BWA-MEM. The variant calling was performed using GATK HaplotypeCaller (SNV/Indels detection), and DeCovA (CNV detection). GenoFilter (an in-house script) was used to filter the identified variants according to the hypothesized possible inheritance patterns (autosomal recessive; de novo; and X-linked inheritance). Then on all exome data, we filtered variants that had a depth lower than 5X, intronic variants, variants with an occurrence > 3 in the ExAC database (the ACMG recommendation for classifying a de novo dominant variant as pathogenic is its absence from population database like ExAC, 1000 genomes, dbSNP), to keep only rare exonic variants. Moreover, we looked for possible cerebral expression (GTEx) and used pathogenic prediction based on in silico methods (Sift, Polyphen 2, and Mutation Taster) to help us to conclude about the pathogenic role, in order to select rare exonic pathogenic variants.

CMA confirmed the presence of typical 7q11.23 deletions in all patients and ruled out other additional pathogenic CNVs (> 50 kb). Patient 1 had a variant of unknown significance (VOUS) of 386 kb: arr[GRCh37] 10q26.3(134545665_134931858)× 3, containing 8 Refseq genes, among whom 3 are referenced in OMIM; none of them were of interest for ASD or other neurodevelopmental disorders. Decipher reports several individuals with duplications of this region; however, the referral clinicians classified them as likely benign and most of them were inherited from a healthy parent.

WES did not disclose any pathogenic intragenic variant either in GTF2I or in other genes in the non-deleted 7q11.23 allele, as well as in 450 known genes causing ID or ASD (gene list available in Additional file 1). Concerning whole exome analysis, based on Genofilter analysis, we reviewed in average for each patient with trio exome analysis: 78 variants for recessive inheritance hypothesis, 29 variants for de novo hypothesis and 11 variants for X linked inheritance hypothesis. Moreover, after filtering to look for rare exonic variant, we reviewed 9 variant, on average, for each patient with trio exome analysis, and 144 variants for the patient with solo exome analysis. We considered 2 de novo single nucleotide variants (SNV) (1 in patient 1 and 1 in patient 2) as well as 4 SNV in patient 3 (who was sequenced on a solo basis) for their expression in brain tissue or their association with neurodevelopmental disorders; according to the ACMG, these variants were considered as VOUS (Table 2). In particular, the SNV in PDPK1 seemed to be interesting: it was predicted as pathogenic by all in silico methods, it had a cerebral expression and it was de novo. Nevertheless, to the best of our knowledge, this variant has not been reported to date; only one article reported a large deletion encompassing PDPK1 and 2 other genes in 6 patients presenting with developmental delay, ID and seizures. Overall, this SNV is currently considered as a VOUS.

Table 2 Annotation of 6 exonic variants of unknown significance, found by WES in the recruited patients

DeCova did not allow us to detect any CNV because of its poor sensitivity due to WES depth heterogeneity.

The study of single-nucleotide polymorphisms in the five trios, showed that the deletion was of maternal origin in 4/5 cases.

In conclusion, our study shows that the presence of ASD in the recruited WBS patients is due to i) neither atypically large deletions; ii) nor the presence of pathogenic variants in genes localized in the non-deleted allele which would unmask recessive conditions; iii) moreover, we did not identify a second, indisputable independent genetic diagnosis, related to pathogenic CNVs or rare pathogenic exonic variants in known ID/ASD causing genes, although several variants of unknown significance were found. Finally, these results did not suggest an imprinting effect as the only cause of autism in patients with WBS, since the deletion occurred in alleles of both maternal and paternal origin.

The WBS neuropsychological profile is characterized by social disinhibition and excessive empathy which do not follow common social norms; therefore, the terms "overfriendliness" and "hypersociability" appear to be a misleading oversimplification. Excessive talkativeness is often not directed toward others, and verbal communication can be therefore impaired in WBS as in ASD. Furthermore, WBS patients can show other symptoms overlapping with ASD, such as restricted interests, repetitive behavior and hyperacousia, even in the absence of a formal diagnosis of ASD [ 1, 7, 10].

Our study had some limitations. Firstly, we could not exclude some small differences in the deletion breakpoints due to the presence of repeated duplicated flanking regions that are not easily mapped and sequenced. In other words, we could not rule out the hypothesis that GTF2I or its regulatory regions may be disrupted in WBS patients with ASD and not in those presenting with a classical neuropsychological profile. Secondly, given the small number of patients recruited, we focused on rare exonic variants considered to be pathogenic and we could not evaluate the possible role of second hits currently not classified as pathogenic, frequent variants or predisposition factors. Thirdly, we could not exclude that the etiology of ASD in WBS is heterogeneous. In this respect, the hypothesis that an imprinting effect might influence the occurrence of autistic features in a subset of WBS patients cannot be excluded.

Nevertheless, it is interesting to notice that Kopp et al. recently reported the characterization of 85 WBS patients by WES: even if the recruited patients did not undergo a formal evaluation for ASD, the authors did not find any significant variant contributing to the WBS social phenotype [ 11], this fitting with the conclusions of the present study.

We hope that further molecular studies by whole genome sequencing, functional expression studies on Induced Pluripotent Stem Cells [ 3], or studies on large series of patients exploring complex mechanisms including multi-gene inheritance, RNA modification or gene-environment interactions, will help to explain the observed variability in WBS social communication, ranging from excessive talkativeness and social disinhibition to absence of verbal language and social deficit.

Abbreviations

ADI-R:

Autism Diagnostic Interview-Revised scale

ADOS:

Autism Diagnostic Observation Schedule scale

ASD:

Autism Spectrum Disorder

CARS:

Childhood Autism Rating Scale

CMA:

Chromosomal Microarray Analysis

ICD:

International Classification of Diseases

ID:

Intellectual disability

VOUS:

Variant Of Unknown Significance

WBS:

Williams Beuren syndrome

WES:

Whole Exome Sequencing

Acknowledgements

We would like to thank patients and their families for their collaboration and the WBS patients' associations "Williams France" and "Autour des Williams" which co-funded this study. We also thank the NGS platform of CHU de Lyon; Mrs Mélanie Langlois, Service de génétique, CHU Lyon, France, for her technical assistance; Mrs Marie-Noëlle Babinet, Centre de Référence GénoPsy, CH Le Vinatier, Bron, and Dr. Hélène Desrosières, Centre de ressource pour l'autisme, Caen, France for providing clinical information. Several authors of this publication (AV, DS, PE, MR) are members of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA).

Funding

This study was funded by the French Williams Beuren patients' Associations: "Williams France" and "Autour des Williams". GT is supported by the Italian Ministry of Health (Ricerca Corrente Grant) and European Research Council (ERC, DISEASEAVATARS 616441).

Availability of data and materials

The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.

Author information

Authors and Affiliations

1. Service de Génétique, Centre de Référence Anomalies du Développement, Hospices Civils de Lyon, Bron, France

Julie Masson, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Damien Sanlaville, Patrick Edery, Gaetan Lesca & Massimiliano Rossi

2. Centre de Recherche en Neurosciences de Lyon, GENDEV Team, INSERM U1028, CNRS UMR5292, Université Claude Bernard Lyon 1, 59 boulevard Pinel, 69677, Bron cedex, France

Julie Masson, Nicolas Chatron, Caroline Schluth-Bolard, Damien Sanlaville, Patrick Edery, Gaetan Lesca & Massimiliano Rossi

3. Centre de Référence GénoPsy, Service Hospitalo-Universitaire, CRMR Maladies Rares à Expression Psychiatrique, Centre Hospitalier le Vinatier, Pôle Ouest, Bron, Université Lyon 1, Lyon, France

Caroline Demily

4. Service de génétique médicale, CHU de Poitiers, and EA 3808, Université de Poitiers, Poitiers, France

Brigitte Gilbert-Dussardier

5. Service de génétique, CHU de Nice, Nice, France

Fabienne Giuliano

6. Service de génétique clinique, chromosomique et moléculaire, CHU Saint-Etienne, Saint Priez en Jarez, France

Renaud Touraine

7. Pôle Hospitalo-Universitaire de Psychiatrie Enfant et Adolescent (PHUPEA), Centre Hospitalier Guillaume Régnier, Université Rennes 1, Rennes, France

Sylvie Tordjman

8. Laboratoire de Psychologie de la Perception (LPP), CNRS UMR 8158, Université Paris Descartes, Paris, France

Sylvie Tordjman

9. Département de Génétique, APHP-Robert DEBRE University Hospital, USPC University and INSERM UMR1141, Paris, France

Alain Verloes

10. Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy

Giuseppe Testa

11. European Institute of Oncology, Milan, Italy

Giuseppe Testa

Contributions

JM, NC, PAF, and GL analyzed and interpreted WES data. AL and CSB performed and interpreted CMA. CD characterized the patients' neurocognitive profile. BGD, FG, RT provided clinical information about recruited patients. ST, AV, GT, DS and PE gave major contributions to the study design. MR coordinated the study and wrote the manuscript. All the authors read and approved the final manuscript.

Corresponding author

Correspondence to Massimiliano Rossi.

Ethics declarations

Ethics approval and consent to participate

Families of recruited patients gave written informed consent and the study was approved by the ethical committee of our institution (Comité de Protection des Personnes SUD-EST II: committee's reference number: IRB 11263).

Consent for publication

All families provided written informed consent.

Competing interests

All the authors declare no competing interests.

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Additional file

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# data[].attributes.attachment_link.title
Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder - Orphanet Journal of Rare Diseases

# data[].attributes.attachment_link.description
Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness and social disinhibition, often defined as "overfriendliness" and "hyersociability". WBS is generally considered as the polar opposite phenotype to Autism Spectrum Disorder (ASD).

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Language Benchmarks in Children with ASD

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Defining Spoken Language Benchmarks and Selecting Measures of Expressive Language Development for Young Children with Autism Spectrum Disorder

Helen Tager-Flusberg, Boston University School of Medicine
Sally Rogers, University of California, Davis/MIND Institute
Judith Cooper, NIDCD
Rebecca Landa, Kennedy Krieger Institute, Johns Hopkins School of Medicine
Catherine Lord, University of Michigan;
Rhea Paul, Yale Child Study Center
Mabel Rice, University of Kansas
Carol Stoel-Gammon, University of Washington
Amy Wetherby, Florida State University
Paul Yoder, Vanderbilt University

KEYWORDS: Autism; Autism Spectrum Disorders; Language Acquisition

Abstract

Purpose:
The aims of this paper are:

1. To offer a set of recommended measures that can be used for evaluating the efficacy of interventions that target spoken language acquisition as part of treatment research studies or for use in applied settings.

2. To propose and define a common terminology for describing levels of spoken language ability in the expressive modality and set benchmarks for determining a child's language level in order to establish a framework for comparing outcomes across intervention studies.

Method:
The NIDCD assembled a group of researchers with interests and experience in the study of language development and disorders in young children with ASD. The group worked for 18 months through a series of conference calls and correspondence, culminating in a meeting held in December 2007 to achieve consensus on these aims.

1. We recommend moving away from using the term "functional speech," replacing it with a developmental framework;

2. We recommend multiple sources of information to define language phases, including natural language samples, parent report, and standardized measures;

3. We provide guidelines and objective criteria for defining children's spoken language expression in three major phases that correspond to developmental levels between 8 and 48 months of age.

Introduction

Autism is a neurodevelopmental disorder characterized by primary impairments in social interactions, communication, and repetitive and stereotyped behaviors (American Psychiatric Association, 2000). In addition, autism often results in significant disability, including intellectual deficits, language and adaptive behavior deficits, as well as problem behaviors. It is now recognized that classic autism is part of a spectrum of related disorders that includes pervasive developmental disorder-not otherwise specified (PDD-NOS) and Asperger syndrome; this set of diagnoses, collectively, is referred to here as autism spectrum disorders (ASD). Outcomes for children with ASD represent a broad continuum, with only a small percentage achieving independence and full employment as adults (Howlin, Goode, Hutton, & Rutter, 2004). ASDs are no longer thought to be rare disorders. Current reports indicate that 1 in every 150 children in the United States will receive an ASD diagnosis (Bertrand, Mars, Byle, Bove, 2001; Kuehn, 2007; Yeargin-Allsopp, Rice, Karapurka, Doernberg, Boyle, Murphy, 2003).

Children with ASD have long been known to respond to interventions that target specific skills and behaviors (NRC, 2001), and numerous studies have demonstrated the positive effects of early intervention on language development for the majority of children with ASD (Dawson & Osterling, 1997; Koegel & Koegel, 1988; Lovaas, 1987; Rogers, 2005; Rogers & Vismara, 2008), with some, though sparse, evidence of long lasting benefit. The fact that language development can be positively affected by early treatment has tremendous potential significance, because the emergence of spoken language is one of the most important variables predicting better outcomes in later childhood and adulthood (Gillberg & Steffenburg, 1987; Howlin et al., 2004; Venter, Lord, & Schopler, 1992). Thus, given the role of language acquisition in shaping long term outcomes, it has become important to identify the most successful strategies for facilitating language acquisition in young children with ASD, who uniformly demonstrate significant delays in at least some aspects of language and communicative development, especially in the domain of pragmatics (Tager-Flusberg, Paul & Lord, 2005).

While various intervention approaches teach and measure language acquisition in different ways, depending on the philosophy and underlying theory of the approach (see Rogers 2005 for a review), consumers of this literature must be able to compare language outcomes from different treatment approaches. Despite the numerous published language outcome studies of early intervention in ASD (Rogers, 2005), it is not possible to compare language outcomes across reports, because of the lack of uniform measurement approaches to assessing language skills, and the lack of uniform terminology for describing language outcomes in ASD. Many intervention programs for children with ASD, aim to facilitate the development of "functional speech." However, because there has never been consensus on the definition of "functional speech" it is impossible to compare the longer term efficacy of different treatment programs. In this paper we offer an alternative framework for describing spoken language acquisition in children with ASD. The proposal described here replaces the arbitrary singular categorical distinction encompassed by the terminology of "functional speech" with a framework that captures the continuous developmental processes that underlie language acquisition.

Goals

In December 2006 the NIDCD assembled a group of experts in language disorders and language acquisition in young children with ASD to address these issues. Over the next year the group worked together through a series of conference calls and correspondence, culminating in a meeting held in December 2007. This paper summarizes the group's recommendations relating to our primary goal of providing benchmarks for defining the acquisition of spoken language in the expressive modality in young children with ASD.
The working group set two major objectives:

1. To develop a set of recommended measures that can be used for evaluating the efficacy of interventions that target spoken language acquisition as part of treatment research studies or for use in applied settings.

2. To propose and define a common terminology for describing levels of spoken language ability and set benchmarks for determining a child's spoken language level in order to establish a framework for comparing outcomes across intervention studies.

As such, this paper is addressed primarily to researchers; however, practitioners and other consumers are also relevant audiences. For researchers in early autism intervention, who may come from a wide range of theoretical backgrounds and practices, our goal is to provide common terminology and a suggested approach to defining language abilities before, during, and after treatment. The varying measurement approaches used in language intervention research require different levels of financial and human resources and expertise. In addition, researchers have differing aims and hypotheses that may require specialized descriptions of language acquisition of their participants. Thus, we propose a measurement approach that may be applied in a "bare bones" fashion (e.g., relying on direct assessments and parent reports), as well as a more elaborated measurement system (e.g., adding in measures derived from natural language samples), covering the full range of language domains that could be included in treatment programs. By proposing these guidelines we hope to move beyond the ambiguously defined treatment goal of "functional speech" to a more standardized approach, using common measures and common definitions that will allow comparison of outcomes across studies.

For practitioners, the proposed measures and benchmarks presented here provide a framework for describing the language progress of their clients during treatment. By providing a common framework we hope to facilitate the assessment process for clinicians, allowing them to measure their clients' language gains in relation to the research literature. Thus, we aim to enhance the relationship between treatment research and clinical practice in the field of language intervention in ASD.

Our final target group of readers includes parents, early intervention professionals, and others who work to extract evidence of progress, whether research effectiveness or clinical efficacy, from clinical reports and research papers that use language measures to chart change in children with ASD. Clearly defined benchmarks of speech and language development will aid families, early childhood educators, and others who turn to the language research literature to understand language growth in young children with ASD.

Some additional comments are in order. First, we focus here exclusively on the development of spoken language through the preschool years, omitting consideration of measures and benchmarks for defining preverbal communicative skills. While the working group recognizes that sophisticated language skills take many forms, including both verbal and non-verbal means for effective communication, and that children with ASD continue to make important advances in language well into the school years, we selected these constraints because outcome studies are uniform in the predictive power of spoken language (i.e., speaking in sentences that serve a variety of functions; e.g., Paul & Cohen, 1984) by age five for individuals with ASD (e.g., Howlin et al., 2004; Venter et al., 1992). Second, we limited our focus to the development of expressive language skills in children with ASD because most intervention studies target expressive language as the primary outcome and also because expressive language is more reliably assessed, especially in children with ASD (cf. Tager-Flusberg, 2000). Third, we have limited our recommendations for measures and benchmarks to English, in part because almost all current studies have focused on English-speaking children with ASD. We hope, however, that the overall framework and guidelines presented here can be readily translated into other languages with some modifications.

Recommendations for Measuring Expressive Language

In order to capture the spoken language and communicative abilities of young children with ASD and to avoid sampling effects, assessments in this domain should include measures derived from multiple sources. These sources should ideally include (1) natural language samples, (2) parent report, and (3) direct standardized assessment.

a) Natural Language Sample (NLS)
Natural language samples that are collected in different communicative contexts provide excellent measures of a child's expressive language abilities, including phonological repertoire, lexical and grammatical knowledge, and pragmatic/communicative skills; the latter are especially difficult to measure using other types of assessment. A NLS may be collected during either experimenter/clinician-child or mother-child interactions. Contexts during which a NLS may be collected include the administration of the Autism Diagnostic Observation Schedule (ADOS; Lord et al., 2000), the Communication and Symbolic Behavior Scales (CSBS; Wetherby & Prizant, 2002), the Early Social and Communication Scales (ESCS; Mundy et al. 1996; Siebert et al., 1982), or equivalent contexts that include social communicative presses. The specific context should be determined based on the goals of the assessment. For example, if a primary outcome measure of a treatment program includes the functional use of specifically targeted forms, then adequate sampling of a range of different communicative contexts (e.g., contexts for requesting, protesting, sharing) would be needed.

Typically, natural language samples will be at least 30 minutes in length to provide adequate time and opportunity to sample a sufficient number and range of utterances. For children with ASD, one may need to concatenate several short language samples to obtain 30 minutes of language behavior. Following the collection of a NLS (see Miller & Chapman, 2000 for discussion of methods), the data must be transcribed and coded to derive useful measures of the child's language. The particular level of transcription (e.g., phonetic, lexical, inclusion of adult language) will again depend on the specific focus of the assessment. Transcription and analyses can be supported by computer-based software, including the widely used Systematic Analysis of Language Transcripts (SALT; Miller & Chapman, 2008), Child Language Data Exchange System (CHILDES; MacWhinney, 2000), Lingquest (Mordecai & Palin, 1982), or Computerized Profiling (Long & Fey, 2004).

b) Parent Report
Parent report measures, administered in questionnaire or interview format, can provide useful information about a child's language skills that may not be observed in a laboratory or clinic setting. The most widely used measure is the MacArthur-Bates Communicative Development Inventory (MCDI; Fenson et al., 1993; 2007). The MCDI can be used to assess children's expressive vocabulary and grammatical knowledge between the ages of 8 and 42 months. Although there are concerns that some parents may over- or under-report their child's language repertoire, parent report instruments have generally been shown to provide valid assessments of young children's language as measured by evidence that early predictors of language also predict MCDI productive raw scores in children with ASD (Charman, Baron-Cohen, Swettenham, Baird, Drew, & Cox, 2003; Luyster, Qui, Lopez & Lord, 2007). There is also evidence that MDCI scores are highly correlated with other measures of language in children with autism (Luyster, Kadlec, Connolly, Carter & Tager-Flusberg, 2008).

c) Direct Assessment/Standardized Tests
Direct assessment of a child's language skills should be accomplished using standardized tests that have good psychometric properties, with particular attention paid to the reliability and validity of the measures that are derived from such tests for children with ASD. Standardized tests can be used to assess expressive language skills in phonological, lexical, grammatical and pragmatic domains of language. We note, however, that few standardized assessment instruments provide opportunities for assessing language skills aside from basic naming ability in children younger than 24 months of age. In addition, most elicited production tests have very few items during this early language period, which means that age equivalency or standard scores can change dramatically with a difference of only one or two raw score points.

Imitation/Echolalia

Many children in the process of acquiring language use imitation and repetition of spoken language, especially during the early stages, to serve some functional communicative goals. Echolalia and stereotyped language, consisting of scripts heard in previous contexts repeated in a non-communicative way, are atypical imitation behaviors that are part of the symptom pattern of ASDs (Kanner, 1946; Prizant, 1983). During the early stages of language acquisition, it may be difficult to discriminate typical from atypical verbal repetition in young children, and there are no clear criteria for defining delayed echolalia (Prizant & Duchan, 1981). Nevertheless, when characterizing the complexity of children's language, we recommend that echolalic (and imitative) language should be omitted from analyses, and from speech samples used to classify children according to the benchmarks described below.

Framework for Describing Spoken Language Acquisition in ASD

We take as our starting point a developmental approach in which we benchmark criteria for the acquisition of spoken language, and recommend measures for expressive language at different development levels. For each level we provide approximate age ranges, though these should be viewed as overlapping and not necessarily definitive. A developmental perspective provides a conceptual framework to guide intervention and evaluation of children with ASD, ensuring that researchers and clinicians strategically plan to target key language milestones within language intervention programs for children with ASD. Within a developmental framework, we identify 5 key phases of expressive language acquisition:

1. Preverbal Communication. Children in this phase communicate using preverbal intentional communication through vocal (babble) and gestural means. This phase generally covers the age range of 6 to 12 months in typically developing children. As noted earlier, we have not included measures or benchmarks for this developmental phase as it is outside the scope of our goals.

2. First Words. Children in this phase use non-imitated spontaneous single words referentially and symbolically to communicate about objects and events, including those outside the immediate context. At least some of their speech is intelligible and incorporates the most frequent consonant sounds heard in typical babble (Oller, 2000; Stoel-Gammon, 1998). Children in this phase use speech with a variety of people in different settings to serve several functions, including, but not limited to, labeling, requesting, and commenting on (directing joint attention) some objects or activities. This phase generally covers the age range of 12 to 18 months in typically developing children.

3. Word Combinations. Children in this phase have a vocabulary that is rapidly increasing in size and includes a variety of parts of speech (nouns, verbs, descriptors). They are able to combine words creatively to refer to objects and events. Two- and three-word combinations are used for several different communicative functions. This phase generally covers the age range of 18 to 30 months in typically developing children.

4. Sentences. Children in this phase combine words into clausal structures, or sentences, and use some morphological markers such as plurals, prepositions, and some verb endings. Their vocabulary is sufficiently large to serve their communicative needs in everyday situations. They communicate a wide range of functions in different settings with both familiar and unfamiliar people. The portion of this phase relevant for the proposed benchmarks defined here corresponds to typically developing children between the ages of 30 to 48 months.

5. Complex Language. By the end of the preschool years, typically developing children have large and rich vocabularies that they use to communicate a wide range of topics (including abstract or hypothetical ideas) using complex grammatical constructions (e.g., relative clauses, sentential complements, anaphora) in different discourse contexts (e.g., conversation, narrative). We do not include either measures or benchmarks for this developmental phase (excluding measures not designed for children below the age of 48 months) as our focus is primarily on younger children with ASD. (For further reading, see Hoff & Shatz, 2007; Menn & Bernstein Ratner, 2000).

Language Benchmarks

Table 1 provides a summary of our proposed benchmarks that define the key developmental phases for spoken language expression (First Words, Word Combinations; Sentences) across the different domains of language, with examples of how each type of measure can be used to assess children's level of language use. As noted earlier, our objective in presenting this framework of benchmarks in each language domain at different developmental phases is explicitly designed to move away from the commonly used term "functional speech" as the outcome goal for intervention studies.

The benchmarks presented in Table 1 can be used for multiple purposes: (1) evaluating whether a child meets criteria for achieving the various language phases in the context of treatment research; (2) as measures to be incorporated into intervention studies; or (3) as a means for monitoring a child's progress in ongoing community treatment. Although we present our benchmarks in each of the developing phases of language, it is important to keep in mind that these phases are dynamic and overlapping periods that, in reality, have no clear boundaries.

Criteria for Defining a Child's Language Level

Some treatment studies include goals to advance a child's language to a particular level. For example, in studies that begin with very young or preverbal children (i.e., children who do not meet the criteria for being in the First Words phase), the goal might be to provide interventions that lead the child into becoming "verbal" - which might then be defined as the First Words level. Other studies might have a more flexible goal of advancing children to the next level within a prescribed treatment period, or to chart language gains based on continuous measures (e.g., number of different consonants, words, or communication functions). Across all intervention studies, criteria for defining each language phase will facilitate the comparison of different treatment studies that may have different designs or measures.

For each language phase we defined the minimum criteria for evaluating a child's language level: In order for a child to be considered to be at a particular level of expressive language functioning, the child's measured language must meet at least one of the defined minimum benchmarks in every language domain that defines that phase. This stringent approach recognizes the comprehensive developmental approach to language acquisition in children with ASD that we have proposed, one which encompasses all aspects of language used to communicate effectively with others in everyday life.

Though each phase contains benchmarks for all language domains based on how language develops in typically developing children, we recognize that particularly in children with ASD there is likely to be asynchrony across different language domains (e.g., vocabulary development may be significantly more advanced than pragmatics). This will result in a mixed phase profile for many children. A child might meet minimum criteria for one phase in all domains and also meet criteria for the more advanced level in one or two domains assessed. Researchers or clinicians may choose to describe a child's language separately for each language domain in place of the criteria defining the language phase.

First Words

This phase represents the emergence of spoken language covering the age range of 12 - 18 months in typically developing children. The benchmarks targeting this phase are placed at the 15 month age-equivalent level. To conclude that a child has reached the First Words phase, he or she must meet the following criteria within each of the following domains:

Phonology: meets one of the two phonological criteria presented in Table 1 based on a NLS; and

Vocabulary: meets criterion for number of different words used on the NLS, or the age-equivalent criterion on a parent report measure, or the age-equivalent criterion on a direct assessment measure; and

Pragmatics: Meets criterion of a minimum of 2 communicative functions, including use of spoken language to comment.

Word Combinations

The phase covers the age range of 18 - 30 months in typically developing children. The benchmarks targeting this phase are placed at the 24 month age-equivalent level. The following criteria define meeting the benchmarks for this phase:

Phonology: meets one of the four phonological criteria presented in Table 1 based on a NLS;

Vocabulary: meets criterion for number of different words used on the NLS or the age-equivalent criterion on a parent report measure, or the age-equivalent criterion on a direct assessment measure. The table lists one measure that focuses exclusively on vocabulary at this age range; in addition a number of direct assessment tests, for example the Mullen Scales for Early Learning (Mullen, 1995), Reynell Developmental Language Scales (Reynell & Gruber, 1990) or Preschool Language Scale-4 (Zimmerman, Steiner & Pond, 2002) all provide measures of expressive language that combine vocabulary and word combination/grammar items. These measures may be used as an alternative to cover the vocabulary and grammar domains for this phase.

Grammar: meets the criteria on the NLS, parent report, or direct assessment measures (see above) listed;

Pragmatics: meets criterion for one of the 3 measures based on the NLS or the age-equivalent score on a parent report measure.

This phase covers the broad age range from 30 to 48 months in typically developing children. The benchmarks are targeted to the 36 month age-equivalent level. The following criteria need to be met for this phase:

Phonology: meets criterion of 75% intelligible in a NLS, or a 36 month level on a direct assessment measure.

Vocabulary: meets criterion for number of different words used on the NLS or the age-equivalent criterion on a direct assessment measure.

Grammar: meets criterion for a 36 month age-equivalent score on a direct assessment measure or the MLU criterion on a NLS. By this phase it is strongly preferred that the NLS include a minimum of 100 spontaneous (non imitative/echolalic) child utterances, for obtaining a more reliable MLU estimate.

Pragmatics: meets criterion based on an elicited narrative, or the criterion for a conversational NLS, or a 36-month age-equivalent on parent report or direct assessment measures.

Conclusions

This report represents the consensus of our working group based on discussions carried out over the course of 18 months. We offer here the following summary and conclusions.

We recommend a move away from using the term "functional speech" as a goal for intervention research and practice, replacing it with a developmental framework. We recognize that the impetus for the use of the term came from studies suggesting that achieving functional speech by age five is an important prognostic indicator in children with ASD. Nevertheless, it is not clear from the literature what definitions earlier studies relied on, though the descriptions in these studies suggest that children with optimal outcomes were able to speak in full sentences serving a range of communicative functions (Paul & Cohen, 1984). In our view, given the significant changes in the age of diagnosis and the increased access to early intensive intervention, it is time to re-open the question of the timing and role of language acquisition as key prognostic indicators in ASD.

In evaluating treatment outcomes, we depend on objective measures, but we recognize that the measures available to us are imperfect. This is particularly evident when assessing the earliest phases of language in the emergence of words, grammatical combinations or the pragmatic uses of communication for which few if any standardized direct assessments are available for children under the age of two. To address these limitations we encourage the use of measures derived from natural language samples and parent report. We recognize that the collection, transcription and coding of natural language samples involves increased labor costs in research and clinical settings. However, we believe this cost cannot be avoided if we are to ensure that the data gathered have the highest degree of validity possible.

We provide objective criteria for defining children's expressive language development in order to provide guidance to researchers and clinicians who assess language in young children with ASD. These may be used to guide intervention research as well as treatment offered in clinical settings. The use of benchmarks based on typical development for charting children's progress reflects findings that language development in early ASD generally follows a similar developmental pathway as in other children (Tager-Flusberg et al., 2005). Using benchmarks from typical development also draws attention to those typical language milestones that should be targeted by early intervention programs. These definitions and benchmarks will allow comparisons of outcomes across different studies.

Finally, we set ourselves a practical goal: to provide a common vocabulary for discussing language acquisition to a wide interdisciplinary professional and lay audience. The terms selected for the benchmarks are intended to be transparent, reflecting important language features that define them. For each benchmark, we have provided definitions for behavior that can be objectively assessed by a broad range of early intervention professionals.

The framework we have developed here should be expanded in several ways: (1) incorporating benchmarks for identifying a range of preverbal communication skills; (2) development of valid and reliable measures of language comprehension for children with ASD; (3) adaptation of the framework for assessing children who communicate using AAC systems; and (4) evaluating the relative merits of different types of measures for children with ASD. Further research is needed to address these important issues, nevertheless, we hope that the concepts and recommendations presented in this paper will enhance early intervention research targeting spoken language development in ASD and will provide clinical professionals the ability to extract and clearly define important information about treatment effectiveness in their work.

Notes

*The group was co-chaired by Helen Tager-Flusberg, Sally Rogers and Judith Cooper (NIH). Members included Rebecca Landa, Catherine Lord, Rhea Paul, Mabel Rice, Carol Stoel-Gammon, Amy Wetherby and Paul Yoder.

*We have limited our recommendations on measures and benchmarks to spoken language, although we recognize that many children with ASD who do not speak can successfully acquire some expressive language skills using augmentative or alternative communication (AAC) systems such as vocal-output devices or manual signing. We have not included a detailed presentation of how our framework might apply to interventions that target AAC systems as there are no clear guidelines available for how to measure non-spoken language skills that are comparable to those available for spoken language.

*Children with ASD will often have a very small spoken vocabulary used primarily to regulate others' behavior, however, unless the criteria for the definition of the First Words phase as specified in Table 1 are met, they should be considered to be in the Preverbal Communication phase.
Language Benchmarks Table.
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Author Note

Support for the preparation of this report was provided by the National Institute on Deafness and Other Communication Disorders - National Institutes of Health, and Autism Speaks. We are especially grateful to Andy Shih and Alycia Halladay of Autism Speaks for their support of this project.
Address for correspondence: Helen Tager-Flusberg, PhD., Department of Anatomy and Neurobiology, Boston University School of Medicine, 715 Albany Street L-814, Boston MA 02118. Email: htagerf@bu.edu

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Language Benchmarks in Children with Autism Spectrum Disorder (ASD)

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Defining Spoken Language Benchmarks and Selecting Measures of Expressive Language Development for Young Children with Autism Spectrum Disorder Helen Tager-Flusberg, Boston University School of Medicine Sally Rogers, University of California, Davis/MIND Institute Judith Cooper, NIDCD Rebecca Landa, Kennedy Krieger Institute, Johns Hopkins School of Medicine Catherine Lord, University of Michigan;

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Autism is also known as autism spectrum disorder (ASD). People with autism have challenges with communication and social skills. They also have repetitive behaviors or restricted interests. Speech-language pathologists, or SLPs, can help. Visit ASHA ProFind to locate a professional in your area.

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About Autism

People with autism have challenges with communication and social skills. They often find it hard to have conversations and may not notice social cues. Some people with autism may not talk at all, and others may not have trouble talking. All people with autism have some degree of challenge with communication (such as making friends or maintaining relationships at school or work).

People with autism also have some type of restricted interests or repetitive behaviors. They may focus on one topic, like cars or a television show, or they may be attached to a certain object or activity. A person with autism may not like changes in their schedule or changes in the way they do something.

Although the medical community uses the term "autism" to refer to a disorder or a disability, many consider autistic people to be neurodiverse-that autism is a difference, not a "disability." It is important to respect the viewpoint of the person with autism and/or their families regarding the type of services or care they want to receive.

When talking to or about someone with autism, some people like to be called a "person with autism," while others prefer to be called an "autistic person" or even "autistic." Different people prefer different terms, and each individual should be allowed to be identified in the way that they prefer.

Autism is present throughout the person's lifetime, and you may not know what caused it. Sometimes, autism runs in families. Some possible causes include

genetic differences;

differences in brain development or in brain function; and

exposure to harmful materials or chemicals in the environment.

Autism can range from mild to severe, depending on how much these challenges affect everyday life.

Signs and Symptoms of Autism

You can often see signs and symptoms of autism in very young children. But, sometimes, these signs and symptoms are not very noticeable-and they might not be recognized until school age or even adulthood. Signs and symptoms may change as the person gets older, but autistic people likely have some challenges with communication, social skills, and behaviors.

Communication

Communication includes understanding, talking, reading, and writing. A person with autism may have challenges

understanding and using gestures like pointing or waving;

understanding and using words;

following directions;

learning to read or write-some children with autism read early but do not understand what they read (this is called hyperlexia); and

having conversations.

A person with autism may

lose early words;

be hard to understand;

repeat words or phrases that they just heard recently or that they heard days or weeks earlier (this is called echolalia);

use a robotic or singsong speaking voice;

talk very little or not at all; and

use challenging behaviors instead of words or gestures to communicate what they want.

Social Skills

A person with autism may have challenges relating to others. It might seem like they are not interested in others or in making friends.

It may be hard for a person with autism to

share attention with someone else and focus on the same object or event;

join in play with others and share toys;

respond when others invite them to play or talk;

understand how others feel;

take turns in play or in conversation; and

make and keep friends.

Behaviors

A person with autism may

repeat certain behaviors, including hand or body movements;

cry, laugh, or become angry for unknown reasons;

have trouble changing from one activity to the next;

get upset by certain sounds, smells, or textures;

like only a few foods;

choose foods based on look or texture; and

show interest in only a few objects or topics.

Seeing a Professional

Testing for Autism

Testing is usually done by a team who knows about autism. The team may include a medical doctor, a neurologist, a developmental psychologist, and an SLP. The individual and their family members are always part of the team. An audiologist may also test the person's hearing to make sure that they do not have a hearing loss.

SLPs test the person's communication and social skills. They may talk with others to learn about the person's communication in settings like home, school, or work.

Some people with autism don't talk at all, talk very little, or have trouble talking. SLPs may test the person's ability to use augmentative and alternative communication (AAC) to help them communicate. AAC can include sign language, gestures, pictures, computer tablets, and other electronic devices.

All people with autism have social communication challenges. But not all people with social communication challenges have autism. SLPs can help figure out if a person has autism or a social (pragmatic) communication.

Treatments for People With Autism

It is best to get help early for young children with autism. Ask about local early intervention and preschool programs. Autistic adolescents and adults also benefit from treatment to help them communicate better in school, at work, and in the community.

A variety of specialists might work with a person with autism throughout their lifetime. These specialists can include audiologists, SLPs, psychologists, special educators, vocational counselors, and job coaches.

SLPs play an important role in autism treatment. They can help the person with autism build communication and social skills in different settings like home, school, and work. SLPs can also help the person learn to use AAC if they need help communicating. SLPs may work with the person alone or in small groups. Groups can help the autistic person practice their skills with others.

Depending on the person's needs, SLPs may work on some of the following skills:

getting along with others in different settings

using a variety of communication supports

taking turns in conversation

moving from one task or setting to another

accepting change and expanding interests, including trying new foods and activities

reading and writing skills

SLPs may also teach families and/or caregivers how to play with their child while teaching skills like

talking about what you are saying/doing;

talking about what a child is saying/doing;

adding extra words for what a child has said;

providing enough help to complete a task while still letting the child do it themselves; and

providing sensory supports during play.

For autistic people who are transitioning to work, SLPs can also help them

write cover letters;

practice interview skills;

learn strategies to communicate at work;

practice advocating for their needs; and

problem-solve regarding appropriate accommodations.

SLPs also work to help people with autism communicate their preferred terminology and advocate for themselves.

See ASHA information for professionals on ASHA's Practice Portal pages on Autism Spectrum Disorder, Social Communication Disorder, and Augmentative and Alternative Communication. See also ASHA's resource on ASHA-certified speech-language pathologists and autism spectrum disorder [PDF].

Other Resources

See the list below for additional resources. This list does not include every website on this topic. ASHA does not endorse the information on these sites.

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Autism is also known as autism spectrum disorder (ASD). People with autism have challenges with communication and social skills. They also have repetitive behaviors or restricted interests. Speech-language pathologists, or SLPs, can help.