Language and Communication Deficits in Chromosome 16p11.2 Deletion Syndrome

Autor/inn/en	Jiménez-Romero, Ma Salud; Fernández-Urquiza, Maite; Benítez-Burraco, Antonio
Titel	Language and Communication Deficits in Chromosome 16p11.2 Deletion Syndrome
Quelle	In: Journal of Speech, Language, and Hearing Research, 65 (2022) 12, S.4724-4740 (17 Seiten) PDF als Volltext Verfügbarkeit
Zusatzinformation	ORCID (Jiménez-Romero, Ma Salud) ORCID (Fernández-Urquiza, Maite) ORCID (Benítez-Burraco, Antonio)
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	1092-4388
Schlagwörter	Genetic Disorders; Disabilities; Language Impairments; Communication Disorders; Speech Impairments; Males; Expressive Language; Receptive Language; Suprasegmentals; Symptoms (Individual Disorders); Interpersonal Competence; Autism Spectrum Disorders; Intellectual Disability; Child Development; Children; Spanish Speaking; Battelle Developmental Inventory; Wechsler Intelligence Scale for Children; Clinical Evaluation of Language Fundamentals + Suchen Sie Ihr Suchwort? Handicap; Behinderung; Speech disorder; Speech disorders; Speech disabilities; Speech disability; Speech handicap; Speech handicaps; Speech impairment; Speech impairments; Language handicaps; Sprachbehinderung; Kommunikationsstörung; Language handicps; Language impairments; Male; Männliches Geschlecht; Rezeptive Kommunikationsfähigkeit; Psychiatrische Symptomatik; Interpersonale Kompetenz; Autism; Autismus; Intellect; Disability; Disabilities; Verstand; Kindesentwicklung; Child; Kind; Kinder
Abstract	Purpose: Chromosome 16p11.2 deletion syndrome (OMIM #611913) is a rare genetic condition resulting from the partial deletion of approximately 35 genes located at Chromosome 16. Affected people exhibit a variable clinical profile, featuring mild dysmorphisms, motor problems, developmental delay, mild intellectual disability (ID), socialization deficits and/or autism spectrum disorder (ASD) traits, and problems with language. Specifically, a precise characterization of the speech, language, and communication (dis)abilities of people with this condition is still pending. Method: We used standardized tests and samples of naturalistic speech to provide a longitudinal profile of the speech, language, and communication problems of a boy with Chromosome 16p11.2 deletion syndrome and without ID or ASD. Results: The proband shows impaired expressive abilities as well as problems with receptive language, dysprosody, and ASD-like communication deficits, such as impaired interactive skills, perseverative verbal behavior, overabundance of tangential responses, and lack of metapragmatic awareness and communicative use of gaze, meeting the criteria for social pragmatic communication disorder. Conclusions: Our results support the view that language and communication impairment should be regarded as one core symptom of Chromosome 16p11.2 deletion syndrome, even without a diagnosis of ASD or ID. Clinical implications of our results, with a focus on therapeutic interventions for children with 16p11.2 deletion syndrome and no ASD or ID, are also discussed. (As Provided).
Anmerkungen	American Speech-Language-Hearing Association. 2200 Research Blvd #250, Rockville, MD 20850. Tel: 301-296-5700; Fax: 301-296-8580; e-mail: slhr@asha.org; Web site: http://jslhr.pubs.asha.org
Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2024/1/01