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.

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.

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.

The influence of cochlear implants on behaviour problems in deaf children.

Background: This study seeks to analyse the relationship between behaviour problems in deaf children and their auditory and communication development subsequent to cochlear implantation and to examine the incidence of these problems in comparison to their hearing peers.

Method: This study uses an ex post facto prospective design with a sample of 208 Spanish children, of whom 104 were deaf subjects with cochlear implants. The first objective assesses the relationships between behaviour problems, auditory integration, and social and communication skills in the group of deaf children.