Elsevier

Journal of Communication Disorders

Volume 78, March–April 2019, Pages 84-96
Journal of Communication Disorders

Speech and language in children with Klinefelter syndrome

https://doi.org/10.1016/j.jcomdis.2019.02.003Get rights and content

Highlights

  • The communication profile in Klinefelter syndrome is variable.

  • Language, literacy and social-pragmatic deficits are common.

  • More notable deficits in older boys, relating to increased academic/social demands.

  • Persistent phonological errors in speech production is a novel finding.

Abstract

Background

Speech and language deficits are frequent in males with Klinefelter syndrome (KS), yet the research base is slim and specific strengths and deficits in communication have not been well characterised. Nor have studies examined communication abilities across a wide age-range from infancy to adolescence.

Objective

To characterise communication in children and adolescents with KS.

Method

Twenty-six males, aged 1;1–17;4 years, took part in the study. Oromotor, speech, language, literacy and pragmatic abilities were assessed.

Results

Communication impairment was seen in 92% of cases (24/26), with salient findings being impairments in social-pragmatic language (15/18; 83%), language-memory (12/15; 80%) and literacy (13/17; 76%). Mild to severe receptive and expressive language deficits were common (16/23; 70%), although performance was varied across linguistic domains of semantics, syntax, and morphology. Oromotor impairment (21/21; 100%) and speech impairments were evident from preschool through to adolescence. Whilst speech was highly intelligible (22/26; 85%), articulation errors (12/26; 46%), phonological delay (12/26; 46%), phonological disorder (5/26; 19%) and dysarthria (2/23 8.7%) were observed. Other atypical, yet mild, speech features were noted such as hyponasality (16/23; 70%).

Conclusions

Language, literacy and social-pragmatic deficits are common in KS. Data suggested a trend for more notable deficits with age and increasing academic and social demands. We added novel data on the nature of speech production deficits, including persistent phonological errors in a number of cases. Earlier detection and intervention of phonological errors may reduce the risk for later language and literacy challenges and optimise academic, and ultimately social and behavioural difficulties later in life.

Introduction

Klinefelter Syndrome (KS) is caused by the presence, in a male, of one or more extra X chromosomes. KS affects between one in 500 to one in 1000 males (Bojesen, Juul, & Gravholt, 2003; Nieschlag, 2013), although approximately half remain undiagnosed (Herlihy, Halliday, Cock, & McLachlan, 2011). KS was first characterised as an endocrine disorder associated with small firm testes, gynaecomastia, azoospermia, hypogonadism, and high levels of follicle-stimulating hormone (Klinefelter, Reifenstein, & Albright, 1942). The medical phenotype of KS has since expanded to include tall stature, increased arm span, feminine distribution of adipose tissue (gynaecomastia included), decreased facial or pubic hair, hypotonia, infertility and small penis size, as well as below average verbal IQ, learning difficulties, and a poorly specified need for speech therapy (Lanfranco, Kamischke, Zitzmann, & Nieschlag, 2004; Nieschlag, 2013; Simpson et al., 2003; Zeger et al., 2008).

There has been little inquiry into the specific communication phenotype in males with KS that takes into account all linguistic domains (Leggett, Jacobs, Nation, Scerif, & Bishop, 2010). In particular, there is limited information about deficits in oral motor and speech production. Infants with KS are reported to have delayed babbling and sound acquisition, as well as difficulties with breastfeeding, suck-swallow coordination and organisation of oromotor musculature (Samango-Sprouse & Law, 2001; Samango-Sprouse, 2001), yet there has been no examination of oral motor function in childhood or adolescence. Further, in regards to speech, although early studies report articulation issues in children with KS, lack of methodological specificity make results difficult to interpret. Specifically, two studies that report articulation issues (Leonard, Schowalter, Landy, Ruddle, & Lubs, 1979 [n = 11]; Robinson, Lubs, Nielsen, & Sorensen, 1979 [n = 51]), utilised only school records as their measure, and had multiple aneuploidies other than 47,XXY within their sample (i.e., 47,XYY, 45,X, 47,XXX); making generalisations to KS specifically problematic. A study delineating speech sound disorder diagnoses remains elusive.

Delayed language milestones have been noted in early childhood, and a recent study investigating 18-month old KS males (n = 13) found a decrease in early lexical and syntactic abilities compared to controls (Zampini et al., 2018). Throughout development, language skills appear to remain a weakness relative to overall cognitive performance for those with KS (see Boada, Janusz, Hutaff-Lee, & Tartaglia, 2009 for review). Specific deficits in vocabulary, grammar and/or auditory memory have been reported. For example, Netley and Rovet (1982, n = 33) found decreased vocabulary and comprehension in KS boys compared to sibling/parent controls. Smaller samples (both n = 14) also noted significant impairments in expressive vocabulary, verbal memory, and expressive grammar (Bender, Linden, & Robinson, 1993; Graham, Bashir, Stark, Silbert, & Walzer, 1988). In contrast, others have found intact receptive and expressive vocabulary in KS boys (n = 50); yet deficits in higher-level metalinguistics and pragmatics (Ross et al., 2008). Adults with KS (n = 35) have also been found to have deficits in language skills, verbal processing, and verbal executive functioning (see Boone et al., 2001).

In general, reading and writing difficulties are closely linked to speech and language disorders in early life (Durand, Loe, Yeatman, & Feldman, 2013), and literacy is reportedly a core challenge for boys with KS (Aksglaede, Skakkebaek, Almstrup, & Juul, 2011). Deficits are noted in the early school years, and seem to be exacerbated with age. By late adolescence, KS males are reported to be four to five grades behind their peers, across multiple academic areas (Rovet, Netley, Keenan, Bailey, & Stewart, 1996). Small samples (both n = 14) have noted both strengths in single-word reading and phonetic decoding in comparison to passage comprehension but also found significant difficulty across a number of other reading and spelling tasks (Bender, Puck, Salenblatt, & Robinson, 1986; Graham et al., 1988). Authors have deduced the literacy and language challenges faced by boys with KS may be related to auditory short-term memory deficits (Bender et al., 1986; Graham et al., 1988). Further study examining the association between speech, language, literacy, and language memory (i.e., the ability to apply working memory to linguistic content/structure) is required.

A final critical skill required for successful communication is pragmatic or social language and, as aforementioned, Ross et al. (2008) found pragmatics to be the key communication impairment relative to other language skills in KS. Boys with KS have been described as shy, withdrawn, dependent, non-assertive, anxious, and at risk of emotional maladjustment (see Geschwind & Dykens, 2004 for review). These social and pragmatic challenges may continue into adolescence and beyond, with reported increased passiveness, social impulsivity and inappropriate behaviour into adulthood (Geschwind & Dykens, 2004). Autism spectrum disorder (ASD) has also been reported in two case studies (total of n = 4 boys) (Jha, Sheth, & Ghaziuddin, 2007; Merhar & Manning-Courtney, 2006) with higher levels of autistic-traits and social stress also noted in adults with KS (van Rijn, Swaab, Aleman, & Kahn, 2008). Unfortunately, data in this domain largely stems from small case studies, with only brief categorical descriptions reported (i.e. the child is either ‘sociable’ or ‘shy’).

In summary, speech, language, literacy and social skill difficulties have been reported in approximately 70–80% of individuals with KS in childhood (Boada et al., 2009). Yet interpretation of data has been challenging due to the variable methodologies employed across previous studies, as well as largely small sample sizes. Additionally, no single study has examined oral motor, speech (e.g., articulation or phonological ability), expressive and receptive language, reading, and pragmatic abilities within the same cohort of children with KS. Further, a comprehensive communication profile has not been determined in a cross-sectional cohort representing the full age spectrum from pre-school to adolescence. The aim of this study was to characterise the broad communication phenotype of individuals with KS, in a cohort of individuals from pre-school age through to adolescence. Verifying the communication phenotype associated with KS will help guide clinicians to identify and diagnose deficits, ultimately leading to more targeted speech therapies.

Section snippets

Materials and methods

Eligible participants were identified from the records of Victorian Clinical Genetics Services. Ethics approval was granted by the Royal Children’s Hospital Human Research Ethics Committee (HREC#27053). Forty-one boys were identified as eligible, based on inclusion criteria: KS diagnosis, age 18 years or younger, residing in Victoria and family were contactable. Eligible families were sent information statements and consent forms and were invited to take part in the study. All assessments were

Results

Of the 41 individuals deemed eligible, 19 elected not to participate due to: travel distance to MCRI (n = 5), too busy (n = 7), cited as no benefit to them (n = 1), no reason given (n = 6). Twenty-two families consented and were recruited. An additional four families contacted the research group after hearing about the research through family members (n = 2) or via a sex chromosome support group (n = 2).

A total of 26 participants (aged between 1;1 and 17;4 years) with English as their primary

Discussion

Past reviews have noted that those with KS are at risk of various neuropsychological and communication concerns, however they also conclude that this is in light of a remarkably small evidence base and that the need for research delineating the nature of these concerns is needed (Leggett et al., 2010). This study has provided a comprehensive characterisation of communication abilities, including speech deficits, in a cohort of boys with KS, from infancy to adolescence. Our detailed phenotyping

Conclusion

In conclusion, communication impairments are common in boys with Klinefelter syndrome, and characterised by a combination of oromotor, speech, language, and pragmatic impairments. Data suggest a possible trend for more notable deficits with age and increasing academic and social demands. Although there was variability in communication profiles across the group, pragmatic language, language memory, and literacy deficits were common; and are more salient in later childhood. A new finding here was

Author contributions

AM designed the research, supervised staff and students on the project and took ultimate responsibility for the project. DA was responsible for identification of participants suitable for recruitment and for supporting clinical genetic queries. MSJ, CP, OV, CM, LP, DA collected clinical data. MSJ, CP, AM, DA analysed and interpreted the data. MSJ and AM generated the original draft. MSJ, AM and DA revised multiple early versions of the manuscript. All authors contributed to writing and revision

Funding

This work was supported by the National Health and Medical Research Council (NHMRC) Centre of Research Excellence in Speech and Language [#1116976] and NHMRC Project grant [#APP1127144], awarded to AM, DA. The work was also supported by NHMRC Career Development Award [#607315] and Practitioner Fellowship [#1105008], awarded to AM. This work was supported by the Victorian Government’s Operational Infrastructure Support Programme. The authors report no disclosures relevant to the manuscript.

Acknowledgement

We thank Amber Boys of the Victorian Clinical Genetics Service for support with identification of participants for recruitment.

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