Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. 2013

Gordana Raca, and Becky S Baas, and Salman Kirmani, and Jennifer J Laffin, and Craig A Jackson, and Edythe A Strand, and Kathy J Jakielski, and Lawrence D Shriberg
University of Wisconsin-Madison, Madison, WI 53705, USA.

We report clinical findings that extend the phenotype of the ~550 kb 16p11.2 microdeletion syndrome to include a rare, severe, and persistent pediatric speech sound disorder termed Childhood Apraxia of Speech (CAS). CAS is the speech disorder identified in a multigenerational pedigree ('KE') in which half of the members have a mutation in FOXP2 that co-segregates with CAS, oromotor apraxia, and low scores on a nonword repetition task. Each of the two patients in the current report completed a 2-h assessment protocol that provided information on their cognitive, language, speech, oral mechanism, motor, and developmental histories and performance. Their histories and standard scores on perceptual and acoustic speech tasks met clinical and research criteria for CAS. Array comparative genomic hybridization analyses identified deletions at chromosome 16p11.2 in each patient. These are the first reported cases with well-characterized CAS in the 16p11.2 syndrome literature and the first report of this microdeletion in CAS genetics research. We discuss implications of findings for issues in both literatures.

UI MeSH Term Description Entries
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002885 Chromosomes, Human, Pair 16 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 16
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001072 Apraxias A group of cognitive disorders characterized by the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function. The two major subtypes of this condition are ideomotor (see APRAXIA, IDEOMOTOR) and ideational apraxia, which refers to loss of the ability to mentally formulate the processes involved with performing an action. For example, dressing apraxia may result from an inability to mentally formulate the act of placing clothes on the body. Apraxias are generally associated with lesions of the dominant PARIETAL LOBE and supramarginal gyrus. (From Adams et al., Principles of Neurology, 6th ed, pp56-7) Dressing Apraxia,Dyspraxia,Ideational Apraxia,Apraxia,Apraxia of Phonation,Apraxia, Articulatory,Apraxia, Developmental Verbal,Apraxia, Facial-Oral,Apraxia, Gestural,Apraxia, Motor,Apraxia, Oral,Apraxia, Verbal,Developmental Verbal Dyspraxia,Dyspraxia, Articulatory,Dyspraxia, Oral,Dyspraxia, Verbal,Speech And Language Disorder With Orofacial Dyspraxia,Speech-Language Disorder 1,1s, Speech-Language Disorder,Apraxia, Dressing,Apraxia, Facial Oral,Apraxia, Ideational,Apraxias, Articulatory,Apraxias, Developmental Verbal,Apraxias, Dressing,Apraxias, Facial-Oral,Apraxias, Gestural,Apraxias, Ideational,Apraxias, Motor,Apraxias, Oral,Apraxias, Verbal,Articulatory Apraxia,Articulatory Apraxias,Articulatory Dyspraxia,Articulatory Dyspraxias,Developmental Verbal Apraxia,Developmental Verbal Apraxias,Developmental Verbal Dyspraxias,Disorder 1, Speech-Language,Disorder 1s, Speech-Language,Dressing Apraxias,Dyspraxia, Developmental Verbal,Dyspraxias,Dyspraxias, Articulatory,Dyspraxias, Developmental Verbal,Dyspraxias, Oral,Dyspraxias, Verbal,Facial-Oral Apraxia,Facial-Oral Apraxias,Gestural Apraxia,Gestural Apraxias,Ideational Apraxias,Motor Apraxia,Motor Apraxias,Oral Apraxia,Oral Apraxias,Oral Dyspraxia,Oral Dyspraxias,Phonation Apraxia,Phonation Apraxias,Speech Language Disorder 1,Speech-Language Disorder 1s,Verbal Apraxia,Verbal Apraxia, Developmental,Verbal Apraxias,Verbal Apraxias, Developmental,Verbal Dyspraxia,Verbal Dyspraxia, Developmental,Verbal Dyspraxias,Verbal Dyspraxias, Developmental
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D017384 Sequence Deletion Deletion of sequences of nucleic acids from the genetic material of an individual. Deletion Mutation,Deletion Mutations,Deletion, Sequence,Deletions, Sequence,Mutation, Deletion,Mutations, Deletion,Sequence Deletions
D051858 Forkhead Transcription Factors A subclass of winged helix DNA-binding proteins that share homology with their founding member fork head protein, Drosophila. Forkhead Box Protein,Forkhead Box Transcription Factor,Forkhead Protein,Forkhead Transcription Factor,Forkhead Box Proteins,Forkhead Box Transcription Factors,Forkhead Proteins,Fox Transcription Factors,Box Protein, Forkhead,Box Proteins, Forkhead,Factor, Forkhead Transcription,Protein, Forkhead,Protein, Forkhead Box,Proteins, Forkhead Box,Transcription Factor, Forkhead,Transcription Factors, Forkhead,Transcription Factors, Fox
D055028 Comparative Genomic Hybridization A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations. Array Comparative Genomic Hybridization,Array-Based Comparative Genomic Hybridization,Comparative Genome Hybridization,Array Based Comparative Genomic Hybridization,Comparative Genome Hybridizations,Comparative Genomic Hybridizations,Genome Hybridization, Comparative,Genome Hybridizations, Comparative,Genomic Hybridization, Comparative,Genomic Hybridizations, Comparative,Hybridization, Comparative Genome,Hybridization, Comparative Genomic,Hybridizations, Comparative Genome,Hybridizations, Comparative Genomic

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