Miya St John1, Charlotte Ponchard1, Olivia van Reyk2, Cristina Mei2, Lauren Pigdon2, David J Amor3, Angela T Morgan4. 1. University of Melbourne, Parkville, Victoria 3010, Australia; Murdoch Children's Research Institute, 50 Flemington Road, Parkville, Victoria 3052, Australia. 2. Murdoch Children's Research Institute, 50 Flemington Road, Parkville, Victoria 3052, Australia. 3. University of Melbourne, Parkville, Victoria 3010, Australia; Murdoch Children's Research Institute, 50 Flemington Road, Parkville, Victoria 3052, Australia; Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria 3052, Australia; Victorian Clinical Genetics Service, 50 Flemington Road, Parkville, Victoria 3052, Australia. 4. University of Melbourne, Parkville, Victoria 3010, Australia; Murdoch Children's Research Institute, 50 Flemington Road, Parkville, Victoria 3052, Australia; Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria 3052, Australia. Electronic address: angela.morgan@mcri.edu.au.
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.
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.
Authors: Nicole Tartaglia; Susan Howell; Shanlee Davis; Karen Kowal; Tanea Tanda; Mariah Brown; Cristina Boada; Amanda Alston; Leah Crawford; Talia Thompson; Sophie van Rijn; Rebecca Wilson; Jennifer Janusz; Judith Ross Journal: Am J Med Genet C Semin Med Genet Date: 2020-06-07 Impact factor: 3.908
Authors: Marielle B Plug; Vivian van Wijngaarden; Hester de Wilde; Ellen van Binsbergen; Inge Stegeman; Marie-José H van den Boogaard; Adriana L Smit Journal: Front Pediatr Date: 2021-07-01 Impact factor: 3.418