The value of the DEMSS in differential diagnosis of severe speech impairments was supported on the basis of evidence of reliability and validity.

We report clinical findings that extend the phenotype of the B550 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.

Objective: To compare language and audiological outcomes among infants (<9 and <12 mo) and older children receiving cochlear implantation (CI). Study design: Retrospective chart review. Setting: Tertiary academic referral center. Patients: Pediatric patients receiving CI between October 1995 and October 2019. Intervention: Cochlear implantation Main Outcome Measures: Most recent language and audiological assessment scores were evaluated by age group. Results: A total of 118 children were studied, including 19 who were implanted <9 months of age, 19 implanted 9 to <12 months of age, and 80 implanted 12 to <36 months of age. The mean duration of follow-up was 7.4 AE 5.0 years. Most recent REEL-3 receptive (88 AE 12 vs. 73 AE 15;p ¼ 0.020) and expressive (95 AE 13 vs. 79 AE 12; p ¼ 0.013) communication scores were significantly higher in the <9 months group compared to the 9 to <12 months group. PLS and OWLS auditory comprehension and oral expression scores were significantly higher in the <12 months group compared to the 12 to <36 months group. The difference in NU-CHIPS scores between <12 and 12 to <36 months was statistically significant (89% AE 6 vs. 83% AE 12; p ¼ 0.009). LNT scores differed significantly between <9 and 9 to <12 months (94% AE 4 vs. 86% AE 10; p ¼ 0.028). Conclusions: The recent FDA expansion of pediatric CI eligibility criteria to include infants as young as 9 months of age should not serve as a strict clinical cutoff. Rather, CI can be pursued in appropriately selected younger infants to optimize language and audiological outcomes.

4 Laryngoscope, 126:S5-S13, 2016.

Motor learning principles guide treatment of childhood apraxia of speech (CAS). Previous studies found children to benefit from higher-intensity conditions; however, they did not control for the total amount of therapy time. The aims of the article are to examine the effects of high versus low treatment frequency in intervention for CAS in German-speaking children. An alternating single-subject design with multiple baselines was applied to compare frequent, short sessions with fewer, longer sessions in terms of speech production accuracy in four children with CAS while keeping the total therapy time constant. We administered a version of integral stimulation treatment. Despite inter-individual differences, changes under both treatment conditions showed similar positive trajectories for all four children. Untreated control targets also improved across participants and conditions. Maintenance and generalization to untreated targets were observed two weeks and three months post treatment, independent of treatment intensity. Our results show no significant advantage of more intensive treatment when the total therapy time is held constant. This study contributes to the evidence base for the use of integral stimulation in treating children with CAS, and in particular those who speak languages other than English.