Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of .

Introduction: Copy-number variations (CNVs) impacting on small DNA stretches and associated with language deficits provide a unique window to the role played by specific genes in language function.

Methods: We report in detail on the cognitive, language, and genetic features of a girl bearing a small deletion (0.186 Mb) in the 2p16.

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

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.

Pragmatic Profiles of Adults with Fragile X Syndrome and Williams Syndrome.

Linguistic phenotypes of individuals with Fragile X (FXS) and Williams (WS) syndromes exhibit various degrees of pragmatic impairment, involving difficulties in social communication and in adapting to conversational principles. The goal of the present study was to explore syndrome-specific pragmatic profiles of adults with FXS and WS based on the assessment of the observance of Gricean maxims of conversation. The participants were 12 Spanish-speaking adults (6 FXS/6 WS), without a diagnosis of ASD, whose extensive naturalistic conversations (71,859 words) were transcribed and coded with the CHILDES/TALKBANK tools and the PREP-CORP pragmatic protocol.

Language Impairment with a Partial Duplication of .

Duplications of the distal region of the short arm of chromosome 9 are rare, but are associated with learning disabilities and behavioral disturbances. We report in detail the cognitive and language features of a child with a duplication in the 9p24.3 region, arr[hg19] 9p24.

Language impairment with a microduplication in 1q42.3q43.

Deletions and duplications of the distal region of the long arm of chromosome 1 are associated with brain abnormalities and developmental delay. Because duplications are less frequent than deletions, no detailed account of the cognitive profile of the affected people is available, particularly, regarding their language (dis)abilities. In this paper we report on the cognitive and language capacities of a girl with one of the smallest interstitial duplications ever described in this region, affecting to 1q42.

Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome.

The chromosome 1q21.1 duplication syndrome (OMIM# 612475) is characterized by head anomalies, mild facial dysmorphisms, and cognitive problems, including autistic features, mental retardation, developmental delay, and learning disabilities. Speech and language development are sometimes impaired, but no detailed characterization of language problems in this condition has been provided to date.

Explicit Oral Narrative Intervention for Students with Williams Syndrome.

Narrative skills play a crucial role in organizing experience, facilitating social interaction and building academic discourse and literacy. They are at the interface of cognitive, social, and linguistic abilities related to school engagement. Despite their relative strengths in social and grammatical skills, students with Williams syndrome (WS) do not show parallel cognitive and pragmatic performance in narrative generation tasks.